Chr Start End Ref Alt Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene 1000G_ALL 1000G_AFR 1000G_AMR 1000G_EAS 1000G_EUR 1000G_SAS ExAC_Freq ExAC_AFR ExAC_AMR ExAC_EAS ExAC_FIN ExAC_NFE ExAC_OTH ExAC_SAS ESP6500si_ALL ESP6500si_AA ESP6500si_EA CG46 NCI60 dbSNP COSMIC_ID COSMIC_DIS ClinVar_SIG ClinVar_DIS ClinVar_ID ClinVar_DB ClinVar_DBID GWAS_DIS GWAS_OR GWAS_BETA GWAS_PUBMED GWAS_SNP GWAS_P SIFT_score SIFT_converted_rankscore SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_rankscore Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_rankscore Polyphen2_HVAR_pred LRT_score LRT_converted_rankscore LRT_pred MutationTaster_score MutationTaster_converted_rankscore MutationTaster_pred MutationAssessor_score MutationAssessor_score_rankscore MutationAssessor_pred FATHMM_score FATHMM_converted_rankscore FATHMM_pred PROVEAN_score PROVEAN_converted_rankscore PROVEAN_pred VEST3_score VEST3_rankscore MetaSVM_score MetaSVM_rankscore MetaSVM_pred MetaLR_score MetaLR_rankscore MetaLR_pred M-CAP_score M-CAP_rankscore M-CAP_pred CADD_raw CADD_raw_rankscore CADD_phred DANN_score DANN_rankscore fathmm-MKL_coding_score fathmm-MKL_coding_rankscore fathmm-MKL_coding_pred Eigen_coding_or_noncoding Eigen-raw Eigen-PC-raw GenoCanyon_score GenoCanyon_score_rankscore integrated_fitCons_score integrated_fitCons_score_rankscore integrated_confidence_value GERP++_RS GERP++_RS_rankscore phyloP100way_vertebrate phyloP100way_vertebrate_rankscore phyloP20way_mammalian phyloP20way_mammalian_rankscore phastCons100way_vertebrate phastCons100way_vertebrate_rankscore phastCons20way_mammalian phastCons20way_mammalian_rankscore SiPhy_29way_logOdds SiPhy_29way_logOdds_rankscore Interpro_domain GTEx_V6_gene GTEx_V6_tissue gnomAD_exome_ALL gnomAD_exome_AFR gnomAD_exome_AMR gnomAD_exome_ASJ gnomAD_exome_EAS gnomAD_exome_FIN gnomAD_exome_NFE gnomAD_exome_OTH gnomAD_exome_SAS gnomAD_genome_ALL gnomAD_genome_AFR gnomAD_genome_AMR gnomAD_genome_ASJ gnomAD_genome_EAS gnomAD_genome_FIN gnomAD_genome_NFE gnomAD_genome_OTH Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo 1 881627 881627 G A exonic NOC2L synonymous SNV NOC2L:NM_015658:exon16:c.C1843T:p.L615L 0.44 0.064 0.44 0.62 0.63 0.57 0.5653 0.1397 0.4840 0.6560 0.6221 0.6283 0.5737 0.5648 0.47 0.16 0.64 0.42 0.52 rs2272757 COSM1344685 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5703 0.1305 0.4852 0.5441 0.6577 0.6262 0.6355 0.5652 0.5650 0.4889 0.1429 0.4844 0.5265 0.6751 0.6175 0.6336 0.5855 hom 2284.93 67 1 881627 . G A 2284.93 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6594;MQ=59.10;MQ0=0;QD=34.10;VQSLOD=9.2260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2318,184,0 1 881918 881918 G A exonic NOC2L nonsynonymous SNV NOC2L:NM_015658:exon15:c.C1667T:p.S556L 0.029 0.0038 0.026 . 0.057 0.069 0.0470 0.0114 0.0212 0.0002 0.0264 0.0609 0.0403 0.0657 0.046 0.015 0.062 0.011 0.057 rs35471880 . . . . . . . . . . . . . 0.036 0.433 D 0.484 0.434 P 0.183 0.343 B 0.000 0.449 D 0.999 0.463 D 2.87 0.836 M 0.92 0.445 T -3.63 0.697 D 0.091 0.196 -1.137 0.015 T 0.012 0.047 T . . . 4.347 0.582 24.1 0.995 0.667 0.974 0.743 D c -0.052 0.005 1.000 0.500 0.672 0.522 0 4.09 0.469 6.418 0.731 0.062 0.168 1.000 0.715 0.901 0.381 12.671 0.561 Armadillo-type fold . . 0.0455 0.0096 0.0207 0.0365 0.0001 0.0301 0.0631 0.0471 0.0663 0.0419 0.0131 0.0191 0.0298 0 0.0321 0.0665 0.0509 het 861.50 83 1 881918 . G A 861.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.048;DP=83;Dels=0.00;FS=1.848;HRun=1;HaplotypeScore=0.7887;MQ=58.53;MQ0=0;MQRankSum=0.265;QD=10.38;ReadPosRankSum=-0.749;VQSLOD=5.7609;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,33:83:99:891,0,1300 1 887801 887801 A G exonic NOC2L synonymous SNV NOC2L:NM_015658:exon10:c.T1182C:p.T394T 0.92 0.91 0.92 0.92 0.95 0.92 0.9355 0.9094 0.9558 0.9127 0.9599 0.9406 0.9521 0.9184 0.93 0.91 0.94 0.91 0.87 rs3828047 COSM426785 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9378 0.9077 0.9545 0.9346 0.9111 0.9603 0.9417 0.9395 0.9198 0.9350 0.9086 0.9487 0.9238 0.9097 0.9598 0.9459 0.9479 hom 1723.16 53 1 887801 . A G 1723.16 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8154;MQ=57.26;MQ0=0;QD=32.51;VQSLOD=6.9285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1756,138,0 1 888639 888639 T C exonic NOC2L synonymous SNV NOC2L:NM_015658:exon9:c.A918G:p.E306E 0.92 0.91 0.92 0.92 0.95 0.92 0.9356 0.9096 0.9558 0.9124 0.9601 0.9407 0.9511 0.9184 0.93 0.91 0.94 0.91 0.87 rs3748596 COSM4144218 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9379 0.9078 0.9546 0.9346 0.9110 0.9605 0.9418 0.9397 0.9197 0.9348 0.9086 0.9487 0.9238 0.9100 0.9599 0.9456 0.9481 hom 1861.39 59 1 888639 . T C 1861.39 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.83;MQ0=0;QD=31.55;VQSLOD=7.5017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1894,150,0 1 888659 888659 T C exonic NOC2L nonsynonymous SNV NOC2L:NM_015658:exon9:c.A898G:p.I300V 0.92 0.91 0.92 0.92 0.95 0.92 0.9355 0.9096 0.9557 0.9126 0.9600 0.9407 0.9509 0.9183 0.93 0.91 0.94 0.91 0.87 rs3748597 COSM4144219 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.070 0.216 N 1 0.090 P -1.56 0.005 N -0.39 0.692 T 0.76 0.020 N 0.031 0.089 -0.957 0.397 T 0.000 0.000 T . . . -1.330 0.021 0.004 0.237 0.010 0.042 0.096 N c -1.383 -1.178 0.029 0.139 0.672 0.522 0 4.28 0.500 0.037 0.136 0.016 0.142 0.009 0.180 0.143 0.203 7.695 0.276 Armadillo-type fold ENSG00000188976.6|ENSG00000187583.6|ENSG00000187961.9|ENSG00000188976.6|ENSG00000187583.6|ENSG00000188976.6|ENSG00000188976.6|ENSG00000187961.9|ENSG00000188976.6|ENSG00000188976.6|ENSG00000187583.6 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Lung|Lung|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.9378 0.9079 0.9546 0.9347 0.9110 0.9604 0.9417 0.9396 0.9197 0.9348 0.9086 0.9487 0.9238 0.9100 0.9599 0.9455 0.9480 hom 1257.45 39 1 888659 . T C 1257.45 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.53;MQ0=0;QD=32.24;VQSLOD=8.1358;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1290,105,0 1 897325 897325 G C exonic KLHL17 synonymous SNV KLHL17:NM_198317:exon4:c.G609C:p.A203A 0.86 0.7 0.88 0.92 0.94 0.92 0.9077 0.7210 0.9401 0.9079 0.9345 0.9261 0.9283 0.9161 0.86 0.73 0.93 0.77 0.85 rs4970441 COSM3997700 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9130 0.7136 0.9368 0.9157 0.9060 0.9370 0.9282 0.9124 0.9168 0.8705 0.7170 0.9260 0.9040 0.9035 0.9382 0.9325 0.9325 hom 4465.20 148 1 897325 . G C 4465.20 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4583;MQ=59.34;MQ0=0;QD=30.17;VQSLOD=7.0370;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,146:148:99:4430,340,0 1 909238 909238 G C exonic PLEKHN1 nonsynonymous SNV PLEKHN1:NM_001160184:exon13:c.G1355C:p.R452P,PLEKHN1:NM_032129:exon14:c.G1460C:p.R487P 0.78 0.82 0.69 0.89 0.62 0.83 0.6685 0.7890 0.6912 0.8778 0.5664 0.5916 0.6964 0.8120 0.65 0.78 0.58 0.84 0.45 rs3829740 COSM3751449;COSM3751448 1(large_intestine) . . . . . . . . . . . 0.195 0.244 T 0.0 0.026 B 0.0 0.013 B 0.414 0.130 N 1 0.090 P -1.32 0.007 N 0.99 0.418 T 1.54 0.007 N 0.035 0.088 -1.043 0.165 T 0.000 0.000 T . . . 1.098 0.200 11.20 0.505 0.043 0.001 0.005 N c -1.283 -1.227 0.009 0.118 0.646 0.450 0 2.45 0.288 -0.431 0.070 -0.400 0.062 0.000 0.063 0.008 0.104 2.650 0.047 . ENSG00000169962.4|ENSG00000187642.5 Testis|Testis 0.6685 0.7893 0.6978 0.6988 0.8786 0.5648 0.5857 0.6773 0.8111 0.6498 0.7752 0.6909 0.6689 0.8670 0.5611 0.5739 0.6066 het 1019.26 66 1 909238 . G C 1019.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.146;DP=66;Dels=0.00;FS=0.949;HRun=1;HaplotypeScore=0.9665;MQ=60.00;MQ0=0;MQRankSum=0.201;QD=15.44;ReadPosRankSum=-0.590;VQSLOD=6.1256;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,38:66:99:1049,0,717 1 949654 949654 A G exonic ISG15 synonymous SNV ISG15:NM_005101:exon2:c.A294G:p.V98V 0.83 0.51 0.92 0.93 0.95 0.96 0.9122 0.5636 0.9528 0.9254 0.9472 0.9446 0.9202 0.9501 0.82 0.57 0.95 0.69 0.83 rs8997 COSM3773520 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9197 0.5601 0.9467 0.8977 0.9256 0.9504 0.9477 0.9193 0.9492 0.8403 0.5650 0.9308 0.9139 0.9216 0.9519 0.9528 0.9357 hom 2541.96 76 1 949654 . A G 2541.96 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3692;MQ=59.39;MQ0=0;QD=33.45;VQSLOD=9.1752;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2575,208,0 1 978762 978762 G A exonic AGRN nonsynonymous SNV AGRN:NM_198576:exon8:c.G1528A:p.G510S 0.003 0.0015 0.0043 . 0.0099 . 0.0083 0.0027 0.0043 0 0.0110 0.0123 0.0076 0.0019 0.0092 0.0025 0.013 . . rs138288952 COSM5353209 4(large_intestine) Benign not_specified RCV000244472.2 MedGen CN169374 . . . . . . 0.236 0.179 T 0.991 0.622 D 0.949 0.670 D 0.000 0.629 D 1.000 0.492 D 0.325 0.104 N 3.85 0.037 T -2.72 0.579 D 0.185 0.226 -0.773 0.567 T 0.014 0.056 T . . . 4.544 0.608 24.3 0.997 0.839 0.968 0.710 D c 0.188 0.171 1.000 0.473 0.732 0.924 0 4.76 0.600 3.607 0.536 1.045 0.669 1.000 0.715 0.163 0.208 17.782 0.884 Kazal domain . . 0.0076 0.0015 0.0054 0.0085 0 0.0084 0.0117 0.0098 0.0018 0.0100 0.0021 0.0072 0.0132 0 0.0092 0.0160 0.0081 het 224.89 20 1 978762 . G A 224.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.821;DP=20;Dels=0.00;FS=2.392;HRun=0;HaplotypeScore=7.6397;MQ=58.84;MQ0=0;MQRankSum=-0.222;QD=11.24;ReadPosRankSum=1.288;VQSLOD=2.8342;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:10,9:20:99:255,0,244 1 981931 981931 A G exonic AGRN synonymous SNV AGRN:NM_198576:exon18:c.A3066G:p.S1022S 0.8 0.46 0.89 0.96 0.91 0.91 0.8767 0.5130 0.9312 0.9649 0.9266 0.9018 0.8983 0.8890 0.78 0.53 0.91 0.2 0.73 rs2465128 COSM1126908 1(prostate);2(thyroid);2(large_intestine) Benign not_specified RCV000116259.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8872 0.4965 0.9296 0.8882 0.9679 0.9317 0.9055 0.8859 0.8882 0.8061 0.5008 0.9093 0.8841 0.9654 0.9337 0.9223 0.8979 hom 951.32 32 1 981931 . A G 951.32 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=29.73;VQSLOD=8.3029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.24:984,81,0 1 982994 982994 T C exonic AGRN synonymous SNV AGRN:NM_198576:exon21:c.T3558C:p.F1186F 0.84 0.52 0.9 1. 0.92 0.97 0.8989 0.5354 0.9420 0.9995 0.9490 0.9151 0.9256 0.9543 0.79 0.54 0.92 0.72 0.86 rs10267 COSM4144271 1(thyroid) Benign not_specified RCV000116264.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9089 0.5239 0.9387 0.9222 0.9994 0.9533 0.9164 0.9101 0.9525 0.8239 0.5275 0.9248 0.9272 0.9981 0.9599 0.9313 0.9226 hom 4089.18 131 1 982994 . T C 4089.18 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7449;MQ=58.65;MQ0=0;QD=31.22;VQSLOD=7.9157;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,130:131:99:4089,319,0 1 1158631 1158631 A G exonic SDF4 synonymous SNV SDF4:NM_016176:exon4:c.T570C:p.D190D,SDF4:NM_016547:exon4:c.T570C:p.D190D 0.95 1. 0.93 1. 0.86 0.96 0.9166 0.9825 0.9568 0.9998 0.8569 0.8864 0.9106 0.9499 0.92 0.98 0.89 0.96 0.79 rs6603781 COSM3750257;COSM3750258 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9139 0.9840 0.9513 0.8566 0.9998 0.8533 0.8881 0.8982 0.9484 0.9219 0.9820 0.9379 0.8278 1 0.8543 0.8957 0.9134 hom 3725.20 124 1 1158631 . A G 3725.20 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5233;MQ=60.00;MQ0=0;QD=30.04;VQSLOD=8.5809;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:124:99:3724,322,0 1 1222963 1222963 C T exonic SCNN1D synonymous SNV SCNN1D:NM_001130413:exon10:c.C1386T:p.P462P 0.009 0.0015 0.0072 . 0.02 0.018 0.0140 0.0036 0.0051 0.0002 0.0096 0.0180 0.0187 0.0227 0.014 0.0034 0.019 0.011 0.057 rs74735644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0128 0.0031 0.0054 0.0052 0.0004 0.0107 0.0180 0.0117 0.0186 0.0128 0.0036 0.0084 0.0132 0 0.0089 0.0206 0.0153 het 1374.17 95 1 1222963 . C T 1374.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.531;DP=95;Dels=0.00;FS=3.021;HRun=0;HaplotypeScore=3.8646;MQ=60.00;MQ0=0;MQRankSum=1.578;QD=14.46;ReadPosRankSum=0.595;VQSLOD=4.4969;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,53:95:99:1404,0,1003 1 1249187 1249187 G A exonic INTS11 synonymous SNV INTS11:NM_001256462:exon7:c.C588T:p.F196F,INTS11:NM_001256463:exon7:c.C579T:p.F193F,INTS11:NM_017871:exon9:c.C882T:p.F294F,INTS11:NM_001256460:exon10:c.C795T:p.F265F,INTS11:NM_001256456:exon11:c.C900T:p.F300F 0.31 0.065 0.44 0.019 0.81 0.34 0.5791 0.1560 0.3152 0.0138 0.7382 0.7965 0.6473 0.3875 0.59 0.17 0.8 0.28 0.84 rs12142199 COSM4142284 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5798 0.1459 0.3345 0.8168 0.0142 0.7280 0.7982 0.6567 0.3927 0.5528 0.1626 0.3759 0.7616 0.0179 0.7162 0.7961 0.6884 hom 4417.18 135 1 1249187 . G A 4417.18 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.9937;MQ=59.38;MQ0=0;QD=32.72;VQSLOD=9.2520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4417,346,0 1 1254841 1254841 C G exonic INTS11 synonymous SNV INTS11:NM_017871:exon4:c.G264C:p.G88G,INTS11:NM_001256460:exon5:c.G177C:p.G59G,INTS11:NM_001256456:exon6:c.G282C:p.G94G 0.71 0.3 0.85 0.84 0.92 0.83 0.8476 0.3848 0.7911 0.8258 0.8814 0.9295 0.8330 0.8477 0.75 0.4 0.93 0.59 0.85 rs10907179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8528 0.3695 0.7960 0.9208 0.8220 0.8757 0.9316 0.8665 0.8467 0.7582 0.3862 0.7661 0.9 0.8083 0.8683 0.9322 0.8806 hom 4734.14 141 1 1254841 . C G 4734.14 Mask AC=2;AF=1.00;AN=2;DP=141;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.4913;MQ=59.14;MQ0=0;QD=33.58;VQSLOD=8.7662;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4734,373,0 1 1262966 1262966 C T exonic CPTP synonymous SNV CPTP:NM_001029885:exon3:c.C468T:p.R156R 0.76 0.48 0.87 0.83 0.92 0.83 0.8716 0.6069 0.8069 0.8336 0.8795 0.9301 0.8512 0.8483 0.81 0.58 0.93 0.69 0.84 rs307349 COSM3750295 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8649 0.5567 0.8057 0.9213 0.8217 0.8673 0.9304 0.8765 0.8458 0.8070 0.5607 0.7780 0.9007 0.8083 0.8605 0.9318 0.8908 hom 1352.95 41 1 1262966 . C T 1352.95 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.00;VQSLOD=13.7986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:41:99:1386,120,0 1 1269554 1269554 T C exonic TAS1R3 nonsynonymous SNV TAS1R3:NM_152228:exon6:c.T2269C:p.C757R 0.95 0.98 0.98 0.91 0.97 0.92 0.9613 0.9873 0.988 0.9128 0.9366 0.9721 0.9321 0.9239 0.98 0.99 0.97 0.98 0.78 rs307377 COSM4142285 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.048 0.233 N 1 0.090 P -2.125 0.001 N -2.22 0.871 D 4.08 0.001 N 0.026 0.165 -0.948 0.413 T 0.000 0.000 T . . . -2.119 0.007 0.001 0.506 0.043 0.083 0.141 N c -1.491 -1.411 1.000 0.462 0.421 0.056 0 -0.839 0.102 0.360 0.198 -0.332 0.074 0.075 0.220 0.351 0.246 1.084 0.015 GPCR family 3\x2c C-terminal . . 0.9604 0.9883 0.9874 0.9827 0.9124 0.9254 0.9725 0.9547 0.9216 0.9682 0.9884 0.9857 0.9702 0.9210 0.9258 0.9712 0.9561 hom 912.95 26 1 1269554 . T C 912.95 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=35.11;VQSLOD=9.2646;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:78.23:946,78,0 1 1425700 1425700 T C exonic ATAD3B synonymous SNV ATAD3B:NM_001317238:exon12:c.T1263C:p.I421I,ATAD3B:NM_031921:exon14:c.T1401C:p.I467I 0.49 0.85 0.34 0.62 0.099 0.36 0.2546 0.7544 0.3993 0.6331 0.2016 0.0867 0.2287 0.3351 0.3 0.73 0.083 0.53 0.074 rs819980 COSM423664 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2497 0.7648 0.3869 0.0748 0.6298 0.2060 0.0819 0.2011 0.3355 0.3325 0.7473 0.3765 0.0894 0.6072 0.2206 0.0987 0.1959 het 1404.29 144 1 1425700 . T C 1404.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.147;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1669;MQ=58.73;MQ0=0;MQRankSum=0.018;QD=9.75;ReadPosRankSum=-1.253;VQSLOD=5.9270;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,60:144:99:1434,0,2525 1 1430985 1430985 C T exonic ATAD3B nonsynonymous SNV ATAD3B:NM_001317238:exon14:c.C1597T:p.R533C,ATAD3B:NM_031921:exon16:c.C1735T:p.R579C 0.079 0.037 0.091 0.13 0.058 0.098 0.0760 0.0344 0.1495 0.1308 0.1019 0.0565 0.0824 0.0893 0.048 0.033 0.056 0.087 0.025 rs139902189 COSM3747531 1(liver) . . . . . . . . . . . 0.016 0.518 D 0.99 0.615 D 0.556 0.476 P 0.732 0.064 U 1 0.090 P 1.15 0.294 L -3.31 0.938 D -2.09 0.476 N 0.095 0.157 -0.688 0.610 T 0.024 0.103 T . . . 4.753 0.637 24.7 0.982 0.387 0.021 0.062 N c -0.734 -0.972 0.002 0.087 0.707 0.730 0 0.203 0.144 -0.688 0.052 -0.410 0.061 0.000 0.063 0.000 0.016 3.358 0.067 . ENSG00000235098.4|ENSG00000272455.1|ENSG00000215915.5|ENSG00000215915.5 Adipose_Subcutaneous|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.0789 0.0352 0.1397 0.0429 0.1284 0.0988 0.0557 0.0758 0.0882 0.0657 0.0363 0.1591 0.0430 0.1252 0.1084 0.0614 0.0686 het 993.69 87 1 1430985 . C T 993.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.170;DP=87;Dels=0.00;FS=0.998;HRun=0;HaplotypeScore=3.9004;MQ=59.25;MQ0=0;MQRankSum=0.999;QD=11.42;ReadPosRankSum=-0.004;VQSLOD=4.5955;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,40:87:99:1024,0,1117 1 1479333 1479333 A G exonic SSU72 synonymous SNV SSU72:NM_014188:exon4:c.T399C:p.P133P 0.69 0.91 0.56 0.87 0.31 0.71 0.4601 0.8304 0.5888 0.8837 0.3289 0.2840 0.4447 0.6767 0.47 0.82 0.29 0.67 0.24 rs7533 COSM3747545 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4575 0.8402 0.5854 0.3190 0.8804 0.3310 0.2818 0.4077 0.6726 0.4809 0.8295 0.5477 0.31 0.8821 0.3378 0.2746 0.3697 het 1254.51 102 1 1479333 . A G 1254.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.293;DP=102;Dels=0.00;FS=2.574;HRun=2;HaplotypeScore=3.7255;MQ=58.81;MQ0=0;MQRankSum=0.405;QD=12.30;ReadPosRankSum=-0.385;VQSLOD=5.7718;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,48:102:99:1285,0,1488 1 1551927 1551927 T C exonic MIB2 nonsynonymous SNV MIB2:NM_001170686:exon2:c.T214C:p.F72L,MIB2:NM_001170687:exon2:c.T214C:p.F72L,MIB2:NM_001170688:exon2:c.T214C:p.F72L,MIB2:NM_080875:exon2:c.T214C:p.F72L 0.48 0.54 0.48 0.21 0.71 0.44 0.6228 0.5830 0.3726 0.2442 0.7421 0.7375 0.6557 0.5010 0.67 0.56 0.72 0.54 0.61 rs7418389 COSM4142786 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.212 P -0.55 0.024 N 1.41 0.377 T 0.08 0.085 N 0.026 0.101 -0.931 0.440 T 0.000 0.000 T . . . -1.287 0.022 0.005 0.719 0.095 0.004 0.020 N c -1.498 -1.485 1.000 0.500 0.767 0.994 0 0.364 0.153 -0.394 0.073 -0.010 0.132 0.000 0.063 0.016 0.126 1.104 0.016 Mib-herc2 ENSG00000197530.8|ENSG00000272004.1|ENSG00000227775.3|ENSG00000189339.7|ENSG00000189339.7|ENSG00000215790.2|ENSG00000227775.3|ENSG00000189339.7|ENSG00000272004.1|ENSG00000227775.3|ENSG00000189339.7|ENSG00000272106.1|ENSG00000189339.7|ENSG00000189339.7|ENSG00000189339.7|ENSG00000197530.8|ENSG00000272004.1|ENSG00000189339.7|ENSG00000272004.1|ENSG00000189339.7|ENSG00000189339.7|ENSG00000197530.8|ENSG00000272106.1|ENSG00000272004.1|ENSG00000227775.3|ENSG00000189339.7|ENSG00000197530.8|ENSG00000215790.2|ENSG00000272004.1|ENSG00000227775.3|ENSG00000272106.1|ENSG00000189339.7|ENSG00000197530.8|ENSG00000189339.7|ENSG00000197530.8|ENSG00000228594.1|ENSG00000272106.1|ENSG00000189339.7|ENSG00000272004.1|ENSG00000189339.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5863 0.5317 0.3624 0.7393 0.1890 0.7182 0.7163 0.6393 0.4728 0.6266 0.5437 0.3962 0.7450 0.1912 0.7187 0.7089 0.6584 hom 899.80 35 1 1551927 . T C 899.80 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3990;MQ=58.26;MQ0=0;QD=25.71;VQSLOD=5.6157;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:69.22:933,69,0 1 1558792 1558792 T C exonic MIB2 nonsynonymous SNV MIB2:NM_001170686:exon3:c.T305C:p.M102T,MIB2:NM_001170688:exon3:c.T305C:p.M102T,MIB2:NM_080875:exon3:c.T305C:p.M102T 0.77 0.71 0.87 0.55 0.94 0.86 0.8797 0.7673 0.8125 0.6241 0.9004 0.9411 0.9115 0.8605 0.89 0.77 0.94 0.76 0.6 rs12755088 . . . . . . . . . . . . . 0.065 0.912 T 0.013 0.154 B 0.004 0.093 B 0.135 0.028 U 1 0.090 P 0 0.065 N 1.36 0.344 T 0.21 0.093 N 0.062 0.149 -1.000 0.300 T 0.000 0.000 T . . . -1.067 0.029 0.012 0.724 0.097 0.002 0.011 N c -1.343 -1.415 0.006 0.111 0.706 0.609 0 -2.47 0.060 -0.194 0.095 -1.025 0.021 0.000 0.063 0.002 0.062 4.729 0.123 Mib-herc2 ENSG00000269227.1 Thyroid 0.8679 0.7442 0.8097 0.9773 0.5707 0.8976 0.9381 0.9039 0.8568 0.8553 0.7507 0.8086 0.9868 0.5646 0.8940 0.9356 0.8965 hom 357.42 16 1 1558792 . T C 357.42 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=22.34;VQSLOD=13.1025;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:33.08:390,33,0 1 1647893 1647893 - TTTCTT exonic CDK11A;CDK11B nonframeshift insertion CDK11B:NM_001291345:exon5:c.349_350insAAGAAA:p.E116_R117insKE,CDK11A:NM_001313896:exon5:c.349_350insAAGAAA:p.E116_R117insKE,CDK11A:NM_001313982:exon5:c.349_350insAAGAAA:p.E116_R117insKE,CDK11B:NM_001787:exon5:c.379_380insAAGAAA:p.E126_R127insKE,CDK11A:NM_024011:exon5:c.379_380insAAGAAA:p.E126_R127insKE,CDK11B:NM_033486:exon5:c.379_380insAAGAAA:p.E126_R127insKE,CDK11A:NM_033529:exon5:c.349_350insAAGAAA:p.E116_R117insKE,CDK11B:NM_033489:exon6:c.277_278insAAGAAA:p.E92_R93insKE . . . . . . 0.4974 0.4974 0.4983 0.4938 0.4982 0.4969 0.4989 0.4998 . . . . . rs199866927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4075 0.3412 0.3731 0.4508 0.2980 0.4651 0.4263 0.3918 0.4194 0.4017 0.4940 0.4719 0.084 0.4988 0.5 0.3090 0.4397 het 1790.86 100 1 1647893 . C CTTTCTT 1790.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.605;DP=100;FS=10.963;HRun=0;HaplotypeScore=620.7623;MQ=52.65;MQ0=0;MQRankSum=-6.299;QD=17.56;ReadPosRankSum=-0.015;set=variant2 GT:AD:DP:GQ:PL 0/1:81,16:100:99:1830,0,3732 1 1686040 1686040 G T exonic NADK nonsynonymous SNV NADK:NM_001198995:exon6:c.C690A:p.N230K,NADK:NM_001198993:exon8:c.C786A:p.N262K,NADK:NM_023018:exon8:c.C786A:p.N262K,NADK:NM_001198994:exon10:c.C1221A:p.N407K 0.25 0.05 0.27 0.28 0.41 0.31 0.3564 0.0973 0.2580 0.2600 0.3780 0.4307 0.3789 0.3291 0.32 0.11 0.42 0.18 0.37 rs4751 COSM424509;COSM3750562;COSM1472949 1(large_intestine) . . . . . . . . . . . 0.109 0.302 T 0.562 0.365 P 0.229 0.365 B 0.000 0.629 D 0.967 0.282 P 1.075 0.273 L 0.93 0.441 T -1.04 0.273 N 0.029 0.101 -0.956 0.399 T 0.000 0.000 T . . . -0.260 0.071 0.815 0.683 0.084 0.381 0.257 N c -1.473 -1.536 0.990 0.318 0.672 0.522 0 -1.93 0.071 -1.130 0.033 -1.814 0.006 0.005 0.169 0.001 0.043 13.146 0.587 NAD kinase/diacylglycerol kinase-like domain ENSG00000231050.1|ENSG00000008130.11|ENSG00000008130.11|ENSG00000178821.8|ENSG00000008130.11|ENSG00000169885.5|ENSG00000008130.11|ENSG00000178821.8|ENSG00000178821.8|ENSG00000231050.1|ENSG00000178821.8|ENSG00000231050.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Esophagus_Mucosa|Heart_Atrial_Appendage|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.3551 0.0907 0.2534 0.4895 0.2654 0.3786 0.4252 0.3985 0.3270 0.3038 0.1020 0.2638 0.4967 0.2516 0.3773 0.4042 0.3671 hom 5146.84 153 1 1686040 . G T 5146.84 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.2100;MQ=59.88;MQ0=0;QD=33.64;VQSLOD=8.4095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:5146,397,0 1 1916890 1916890 C T exonic CFAP74 synonymous SNV CFAP74:NM_001304360:exon6:c.G435A:p.L145L 0.44 0.66 0.28 0.43 0.31 0.39 0.3733 0.6239 0.2815 0.4395 0.3922 0.3375 0.3460 0.3930 0.41 0.58 0.33 0.51 0.28 rs3795280 COSM5427269 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3647 0.6246 0.2840 0.3387 0.4326 0.3712 0.3367 0.3429 0.3944 0.4261 0.6137 0.2715 0.3467 0.4386 0.3820 0.3390 0.3809 het 2498.65 202 1 1916890 . C T 2498.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.409;DP=202;Dels=0.00;FS=2.513;HRun=0;HaplotypeScore=2.8715;MQ=59.77;MQ0=0;MQRankSum=-1.208;QD=12.37;ReadPosRankSum=-1.205;VQSLOD=5.3726;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,98:202:99:2529,0,2768 1 1957037 1957037 T C exonic GABRD synonymous SNV GABRD:NM_000815:exon4:c.T330C:p.G110G 0.56 0.75 0.51 0.35 0.68 0.44 0.5934 0.7290 0.4569 0.3148 0.6309 0.6578 0.6473 0.4732 0.68 0.73 0.66 0.53 0.72 rs2229110 COSM424897 2(thyroid) Benign not_specified RCV000254456.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5883 0.7308 0.4730 0.6909 0.3125 0.6383 0.6570 0.6246 0.4739 0.6471 0.7303 0.5012 0.6967 0.3102 0.6380 0.6455 0.6293 hom 5016.54 157 1 1957037 . T C 5016.54 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7050;MQ=59.44;MQ0=0;QD=31.95;VQSLOD=7.7508;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5016,391,0 1 2161153 2161153 G A exonic SKI synonymous SNV SKI:NM_003036:exon1:c.G948A:p.K316K . . . . . . 0.0001 0 0.0010 0 0 0.0001 0 0 0.0002 . 0.0002 . . rs368128582 . . Benign|Likely benign not_specified|Shprintzen-Goldberg_syndrome RCV000196098.2|RCV000231718.2 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C1321551:182212:83092002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0 0.0006 0 0 0 0.0001 0 0 0.0002 0 0.0012 0 0 0 0.0003 0 het 147.17 14 1 2161153 . G A 147.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.065;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.194;QD=10.51;ReadPosRankSum=2.517;VQSLOD=9.2967;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,6:14:99:177,0,217 1 2340200 2340200 T C exonic PEX10 synonymous SNV PEX10:NM_002617:exon3:c.A291G:p.T97T,PEX10:NM_153818:exon3:c.A291G:p.T97T 0.7 0.57 0.77 0.73 0.79 0.7 0.7714 0.6008 0.7699 0.7265 0.8119 0.8116 0.7595 0.7258 0.74 0.6 0.82 0.54 0.74 rs2494598 . . other|Benign not_specified|Zellweger_syndrome RCV000117902.3|RCV000326499.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0043459:214100:ORPHA912:88469006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7743 0.5896 0.7707 0.8259 0.7203 0.8077 0.8113 0.7766 0.7253 0.7385 0.5953 0.7721 0.8278 0.7006 0.8083 0.8031 0.7781 hom 1624.59 51 1 2340200 . T C 1624.59 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2778;MQ=59.55;MQ0=0;QD=31.85;VQSLOD=9.0933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1658,138,0 1 2430617 2430617 C T exonic PLCH2 synonymous SNV PLCH2:NM_001303012:exon19:c.C2448T:p.I816I,PLCH2:NM_001303013:exon19:c.C2589T:p.I863I,PLCH2:NM_014638:exon19:c.C2529T:p.I843I 0.37 0.17 0.45 0.48 0.48 0.33 0.4352 0.2208 0.4693 0.5221 0.4063 0.4689 0.4543 0.3643 0.39 0.22 0.47 0.37 . rs2296442 COSM3751044;COSM3751045 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4329 0.2084 0.4550 0.4282 0.5191 0.4022 0.4706 0.4552 0.3548 0.3832 0.2211 0.4678 0.4172 0.5186 0.4012 0.4514 0.4131 het 254.75 33 1 2430617 . C T 254.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.125;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.430;QD=7.72;ReadPosRankSum=0.692;VQSLOD=10.4700;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,12:33:99:285,0,540 1 2444414 2444414 G A exonic PANK4 nonsynonymous SNV PANK4:NM_018216:exon13:c.C1664T:p.A555V 0.23 0.014 0.3 0.3 0.39 0.21 0.3141 0.0663 0.2257 0.3693 0.3522 0.3738 0.3457 0.2456 0.27 0.072 0.37 0.21 0.43 rs7535528 COSM3746888 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.086 0.496 T 0.769 0.419 P 0.119 0.306 B 0.364 0.136 N 1 0.090 P 2.18 0.615 M 3.19 0.074 T -2.49 0.561 N 0.034 0.420 -0.867 0.508 T 0.000 0.000 T . . . 3.130 0.436 22.6 0.996 0.735 0.655 0.325 D c -0.119 -0.125 1.000 0.747 0.672 0.522 0 5.59 0.846 3.998 0.565 1.045 0.669 0.610 0.276 0.006 0.095 18.568 0.910 Domain of unknown function DUF89 ENSG00000142606.11|ENSG00000228037.1|ENSG00000142606.11 Lung|Spleen|Whole_Blood 0.3154 0.0612 0.2312 0.3740 0.3638 0.3504 0.3754 0.3433 0.2406 0.2736 0.0717 0.2614 0.3709 0.3758 0.3532 0.3580 0.3078 het 2224.67 160 1 2444414 . G A 2224.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.842;DP=160;Dels=0.00;FS=4.777;HRun=0;HaplotypeScore=5.4332;MQ=59.30;MQ0=0;MQRankSum=0.874;QD=13.90;ReadPosRankSum=-1.720;VQSLOD=4.5545;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,83:160:99:2255,0,1884 1 2452569 2452569 T C exonic PANK4 synonymous SNV PANK4:NM_018216:exon3:c.A417G:p.K139K 0.85 0.91 0.81 0.96 0.73 0.79 0.7806 0.9020 0.8555 0.9625 0.6845 0.7384 0.7655 0.7655 0.8 0.9 0.74 0.87 0.71 rs2985862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7786 0.9047 0.8472 0.7261 0.9652 0.6853 0.7414 0.7681 0.7579 0.7894 0.8982 0.8294 0.7267 0.9636 0.6954 0.7324 0.7229 het 1909.27 145 1 2452569 . T C 1909.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.430;DP=145;Dels=0.00;FS=2.179;HRun=1;HaplotypeScore=0.0000;MQ=59.79;MQ0=1;MQRankSum=1.065;QD=13.17;ReadPosRankSum=-0.094;VQSLOD=6.5538;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,70:145:99:1939,0,1978 1 2488153 2488153 A G exonic TNFRSF14 nonsynonymous SNV TNFRSF14:NM_001297605:exon1:c.A50G:p.K17R,TNFRSF14:NM_003820:exon1:c.A50G:p.K17R 0.61 0.78 0.53 0.54 0.47 0.67 0.5443 0.7367 0.5341 0.5096 0.5385 0.4939 0.5566 0.6529 0.56 0.73 0.47 0.53 0.38 rs4870 COSM4143682;COSM4999217 1(pancreas);1(thyroid) not provided not_specified RCV000122164.1 MedGen CN169374 . . . . . . 0.471 0.176 T 0.61 0.377 P 0.145 0.330 B . . . 1 0.090 P 1.175 0.300 L -2.37 0.885 D -0.59 0.176 N 0.032 0.214 -0.931 0.441 T 0.000 0.000 T . . . -0.182 0.077 1.198 0.932 0.222 0.014 0.046 N c -0.956 -1.130 1.000 0.747 0.442 0.072 0 -1.09 0.093 -1.268 0.029 -0.844 0.029 0.000 0.063 0.000 0.016 7.533 0.267 . ENSG00000157873.13|ENSG00000272449.1|ENSG00000157873.13|ENSG00000228037.1|ENSG00000238164.2|ENSG00000142606.11|ENSG00000157873.13|ENSG00000157870.10|ENSG00000272449.1|ENSG00000142606.11|ENSG00000157873.13|ENSG00000238164.2|ENSG00000142606.11|ENSG00000142606.11 Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Pancreas|Pancreas|Thyroid|Whole_Blood 0.5129 0.7273 0.5109 0.4435 0.4874 0.4882 0.4662 0.4990 0.6332 0.5446 0.7156 0.5143 0.4467 0.4609 0.4842 0.4735 0.5154 het 146.56 16 1 2488153 . A G 146.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.573;QD=9.16;ReadPosRankSum=-2.115;VQSLOD=10.0782;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,6:16:99:177,0,265 1 2526746 2526746 A G exonic MMEL1 nonsynonymous SNV MMEL1:NM_033467:exon16:c.T1553C:p.M518T 0.54 0.73 0.49 0.54 0.33 0.54 0.4142 0.6816 0.4535 0.4994 0.3765 0.3345 0.4195 0.5090 0.45 0.68 0.34 0.52 0.27 rs3748816 COSM3746907 1(liver) . . . . . . . . . . . 0.715 0.040 T 0.0 0.026 B 0.0 0.013 B 0.090 0.024 N 1 0.090 P -1.28 0.007 N -1.51 0.814 D 1.61 0.007 N 0.038 0.018 -1.028 0.211 T 0.000 0.000 T . . . -2.189 0.006 0.001 0.239 0.010 0.016 0.052 N c -2.283 -2.243 0.998 0.361 0.516 0.203 0 -5.48 0.024 -2.273 0.012 -2.928 0.002 0.000 0.063 0.000 0.016 2.161 0.036 Peptidase M13\x2c N-terminal domain ENSG00000142606.11|ENSG00000272449.1|ENSG00000142606.11|ENSG00000142606.11|ENSG00000142606.11|ENSG00000142606.11|ENSG00000157873.13|ENSG00000142606.11|ENSG00000142606.11|ENSG00000142606.11|ENSG00000142606.11 Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Liver|Lung|Pancreas|Small_Intestine_Terminal_Ileum|Spleen|Thyroid|Whole_Blood 0.4107 0.6870 0.4542 0.3010 0.5034 0.3776 0.3365 0.3814 0.5073 0.4521 0.6774 0.4522 0.2980 0.4857 0.3833 0.3408 0.3820 het 779.20 62 1 2526746 . A G 779.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.317;DP=62;Dels=0.00;FS=1.044;HRun=0;HaplotypeScore=1.8934;MQ=59.63;MQ0=0;MQRankSum=0.063;QD=12.57;ReadPosRankSum=-0.768;VQSLOD=6.7565;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,32:62:99:809,0,840 1 2535613 2535613 C A exonic MMEL1 synonymous SNV MMEL1:NM_033467:exon10:c.G924T:p.V308V 0.5 0.61 0.45 0.53 0.31 0.53 0.3908 0.5739 0.4242 0.4897 0.3592 0.3183 0.4080 0.4999 0.4 0.57 0.32 0.45 0.16 rs4648562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3863 0.5702 0.4247 0.2974 0.4928 0.3574 0.3168 0.3643 0.4950 0.4040 0.5579 0.4231 0.2914 0.4794 0.3587 0.3206 0.3595 het 749.71 64 1 2535613 . C A 749.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.083;DP=64;Dels=0.00;FS=1.422;HRun=1;HaplotypeScore=4.3874;MQ=59.64;MQ0=0;MQRankSum=1.715;QD=11.71;ReadPosRankSum=-1.083;VQSLOD=4.5776;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,30:64:99:780,0,972 1 2541269 2541269 A G exonic MMEL1 synonymous SNV MMEL1:NM_033467:exon5:c.T294C:p.A98A 0.53 0.7 0.49 0.54 0.33 0.53 0.4114 0.6580 0.4510 0.4963 0.3750 0.3330 0.4188 0.5257 0.44 0.66 0.33 0.51 0.23 rs10797440 COSM3997438;COSM3997439 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4075 0.6633 0.4512 0.3048 0.5033 0.3781 0.3330 0.3824 0.5003 0.4435 0.6524 0.4424 0.3 0.4919 0.3827 0.3378 0.3814 het 1438.58 128 1 2541269 . A G 1438.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.886;DP=128;Dels=0.00;FS=0.718;HRun=1;HaplotypeScore=4.5071;MQ=59.64;MQ0=0;MQRankSum=0.983;QD=11.24;ReadPosRankSum=-0.386;VQSLOD=5.7703;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,56:128:99:1469,0,1866 1 2938265 2938265 C T exonic ACTRT2 synonymous SNV ACTRT2:NM_080431:exon1:c.C15T:p.H5H 0.2 0.13 0.24 0.4 0.16 0.11 0.1941 0.1510 0.3204 0.4222 0.1367 0.1753 0.1787 0.1055 0.17 0.14 0.18 0.24 0.17 rs4576609 COSM3997474 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1951 0.1458 0.3036 0.1045 0.4289 0.1444 0.1787 0.1762 0.0981 0.1695 0.1390 0.2854 0.0993 0.4493 0.1411 0.1597 0.1507 het 995.23 79 1 2938265 . C T 995.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.844;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4661;MQ=59.53;MQ0=0;MQRankSum=0.103;QD=12.60;ReadPosRankSum=-0.958;VQSLOD=5.7858;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,42:79:99:1025,0,925 1 2938408 2938410 AGA - exonic ACTRT2 nonframeshift deletion ACTRT2:NM_080431:exon1:c.158_160del:p.K55del 0.11 0.011 0.22 0.19 0.16 0.046 0.1552 0.0360 0.3108 0.2243 0.1315 0.1676 0.1456 0.0454 0.12 0.036 0.17 . . rs4013154 COSM5713020 2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1624 0.0337 0.2952 0.0979 0.2267 0.1404 0.1727 0.1543 0.0460 0.1235 0.0351 0.2745 0.0933 0.2273 0.1357 0.1527 0.1293 het 1707.72 93 1 2938407 . CAGA C 1707.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.003;DP=93;FS=14.114;HRun=0;HaplotypeScore=363.2259;MQ=56.20;MQ0=0;MQRankSum=-1.278;QD=18.36;ReadPosRankSum=0.166;set=variant2 GT:AD:DP:GQ:PL 0/1:51,42:93:99:1747,0,2678 1 2938697 2938697 T G exonic ACTRT2 synonymous SNV ACTRT2:NM_080431:exon1:c.T447G:p.S149S 0.21 0.17 0.24 0.4 0.16 0.098 0.1923 0.1778 0.3208 0.4170 0.1364 0.1740 0.1786 0.0906 0.18 0.17 0.18 0.25 0.18 rs3795262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1957 0.1731 0.3050 0.1038 0.4247 0.1442 0.1788 0.1764 0.0911 0.1763 0.1643 0.2883 0.0993 0.4438 0.1411 0.1596 0.1507 het 1475.26 142 1 2938697 . T G 1475.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.120;DP=142;Dels=0.00;FS=4.136;HRun=1;HaplotypeScore=6.7389;MQ=59.02;MQ0=0;MQRankSum=0.251;QD=10.39;ReadPosRankSum=-3.017;VQSLOD=3.0503;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,60:142:99:1505,0,2410 1 3301721 3301721 C T exonic PRDM16 synonymous SNV PRDM16:NM_022114:exon4:c.C444T:p.S148S,PRDM16:NM_199454:exon4:c.C444T:p.S148S 0.34 0.039 0.33 0.62 0.27 0.54 0.3295 0.0802 0.4145 0.5966 0.3095 0.2706 0.3158 0.5226 0.2 0.082 0.27 0.26 0.22 rs2282198 COSM3746938 1(liver);1(thyroid);1(biliary_tract) Benign not_specified RCV000213616.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3332 0.0761 0.4029 0.2102 0.5989 0.3076 0.2715 0.3016 0.5230 0.2446 0.0786 0.3816 0.2649 0.6075 0.2991 0.2782 0.2982 het 2361.94 198 1 3301721 . C T 2361.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.048;DP=198;Dels=0.00;FS=0.546;HRun=0;HaplotypeScore=4.7806;MQ=59.34;MQ0=0;MQRankSum=0.238;QD=11.93;ReadPosRankSum=-0.281;VQSLOD=5.5801;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,86:198:99:2392,0,2971 1 3328358 3328358 T C exonic PRDM16 nonsynonymous SNV PRDM16:NM_022114:exon9:c.T1597C:p.S533P,PRDM16:NM_199454:exon9:c.T1597C:p.S533P 0.95 0.99 0.9 1. 0.84 0.96 0.8897 0.9721 0.9243 0.9998 0.9099 0.8404 0.8873 0.9508 0.88 0.97 0.84 0.91 0.76 rs870124 COSM3751146 1(large_intestine) Benign not_specified RCV000217271.2 MedGen CN169374 . . . . . . 0.651 0.061 T 0.0 0.026 B 0.0 0.013 B 0.005 0.328 N 0.909 0.289 P -1.7 0.004 N 3.38 0.060 T 1.31 0.010 N 0.026 0.009 -0.955 0.401 T 0.000 0.000 T . . . -0.543 0.053 0.172 0.663 0.078 0.059 0.117 N c -0.721 -0.498 0.994 0.336 0.487 0.133 0 5.33 0.756 2.031 0.405 0.058 0.164 0.426 0.261 0.826 0.345 14.274 0.656 . . . 0.8901 0.9726 0.9239 0.8534 0.9997 0.9133 0.8350 0.8740 0.9500 0.9008 0.9696 0.9332 0.86 0.9994 0.9196 0.8459 0.8794 hom 6598.71 212 1 3328358 . T C 6598.71 Mask AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4079;MQ=59.64;MQ0=0;QD=31.13;VQSLOD=7.4685;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6598,512,0 1 3389727 3389727 C T exonic ARHGEF16 nonsynonymous SNV ARHGEF16:NM_014448:exon7:c.C1108T:p.H370Y 0.68 0.39 0.76 0.67 0.86 0.86 0.8050 0.4548 0.6769 0.6607 0.9028 0.8731 0.8497 0.8753 0.74 0.47 0.87 0.61 0.82 rs2185639 COSM4143832;COSM4143831 1(thyroid) . . . . . . . . . . . 0.476 0.228 T 0.004 0.147 B 0.012 0.220 B 0.000 0.629 D 0.000 0.588 P 1.935 0.520 L 0.07 0.617 T -2.16 0.547 N 0.255 0.311 -0.940 0.427 T 0.000 0.000 T . . . 1.043 0.194 10.90 0.914 0.201 0.840 0.428 D c -0.426 -0.327 1.000 0.500 0.696 0.567 0 3.43 0.382 1.729 0.375 0.925 0.434 0.681 0.282 0.649 0.298 7.811 0.282 Dbl homology (DH) domain ENSG00000130762.10|ENSG00000130762.10|ENSG00000130762.10|ENSG00000130762.10|ENSG00000130762.10|ENSG00000130762.10 Brain_Cerebellum|Esophagus_Mucosa|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.8060 0.4437 0.6844 0.8547 0.6503 0.9015 0.8727 0.8344 0.875 0.7351 0.4470 0.7261 0.9073 0.6361 0.9023 0.8638 0.8466 hom 3696.05 126 1 3389727 . C T 3696.05 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9388;MQ=60.00;MQ0=0;QD=29.33;VQSLOD=5.2251;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,124:126:99:3695,310,0 1 3394456 3394456 T C exonic ARHGEF16 synonymous SNV ARHGEF16:NM_014448:exon11:c.T1491C:p.S497S 0.97 0.9 0.99 1. 1. 1. 0.9903 0.9036 0.9943 1 1 0.9986 0.9944 0.9986 0.97 0.91 1. 0.86 0.98 rs4638054 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9922 0.9025 0.9946 0.9959 1 1.0000 0.9987 0.9952 0.9987 0.9730 0.9078 0.9964 1 1 1 0.9987 0.9918 hom 2735.21 93 1 3394456 . T C 2735.21 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;QD=29.41;VQSLOD=8.6753;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2768,220,0 1 3395039 3395039 G A exonic ARHGEF16 synonymous SNV ARHGEF16:NM_014448:exon12:c.G1677A:p.V559V 0.69 0.39 0.76 0.68 0.86 0.86 0.8037 0.4608 0.6739 0.6602 0.9019 0.8707 0.8517 0.8743 0.73 0.47 0.87 0.6 0.81 rs10797395 COSM4143834;COSM4143833 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8043 0.4465 0.6827 0.8519 0.6490 0.9000 0.8703 0.8325 0.8735 0.7350 0.4494 0.7231 0.9040 0.6321 0.9018 0.8630 0.8432 hom 6409.18 206 1 3395039 . G A 6409.18 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4783;MQ=59.53;MQ0=0;QD=31.11;VQSLOD=8.9549;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:6408,497,0 1 3428160 3428160 T G exonic MEGF6 synonymous SNV MEGF6:NM_001409:exon9:c.A1068C:p.T356T 0.5 0.75 0.4 0.64 0.29 0.3 0.3713 0.6994 0.4680 0.6653 0.2605 0.2988 0.3200 0.2928 0.42 0.67 0.3 0.62 0.24 rs2820999 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3699 0.7082 0.4598 0.2643 0.6705 0.2543 0.3048 0.3357 0.2940 0.4286 0.7051 0.4318 0.2815 0.7076 0.2380 0.2925 0.3149 het 896.33 66 1 3428160 . T G 896.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.176;DP=66;Dels=0.00;FS=2.605;HRun=1;HaplotypeScore=2.6159;MQ=59.88;MQ0=0;MQRankSum=-0.578;QD=13.58;ReadPosRankSum=0.989;VQSLOD=5.8717;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,31:66:99:926,0,935 1 3428608 3428608 G A exonic MEGF6 nonsynonymous SNV MEGF6:NM_001409:exon8:c.C938T:p.A313V 0.26 0.34 0.19 0.4 0.15 0.14 0.1840 0.3202 0.1761 0.4212 0.1373 0.1513 0.1705 0.1355 0.2 0.3 0.15 0.37 0.2 rs11585362 COSM3746942 1(haematopoietic_and_lymphoid_tissue);2(liver) . . . . . . . . . . . 0.035 0.437 D 0.95 0.519 P 0.36 0.414 B 0.000 0.513 D 1 0.090 P 1.955 0.530 M -3.01 0.922 D -2.04 0.468 N 0.074 0.338 -1.110 0.031 T 0.000 0.000 T . . . 2.464 0.357 19.23 0.994 0.639 0.901 0.508 D c -0.310 -0.365 0.093 0.162 0.732 0.924 0 3.71 0.416 5.734 0.680 0.030 0.149 0.979 0.349 0.018 0.130 8.415 0.316 EGF-like calcium-binding domain|EGF-like domain|EGF-like\x2c conserved site|Growth factor receptor cysteine-rich domain;EGF-like domain|Growth factor receptor cysteine-rich domain . . 0.1813 0.3197 0.1750 0.1687 0.4128 0.1463 0.1487 0.1763 0.1378 0.2060 0.3198 0.1790 0.1987 0.4326 0.1356 0.1367 0.1544 het 1665.84 109 1 3428608 . G A 1665.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.690;DP=109;Dels=0.00;FS=3.943;HRun=0;HaplotypeScore=2.5922;MQ=59.10;MQ0=0;MQRankSum=2.449;QD=15.28;ReadPosRankSum=-0.948;VQSLOD=5.0504;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,65:109:99:1696,0,1053 1 3496479 3496479 T C exonic MEGF6 nonsynonymous SNV MEGF6:NM_001409:exon4:c.A391G:p.S131G 0.85 0.87 0.89 0.71 0.92 0.89 0.8831 0.8634 0.8712 0.6875 0.9095 0.9112 0.9132 0.8815 0.9 0.88 0.92 0.85 0.59 rs2794340 COSM1162425 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.014 0.287 N 1 0.090 P 0.655 0.162 N -2.92 0.918 D 1.7 0.006 N 0.023 0.006 -0.951 0.409 T 0.000 0.000 T . . . -0.908 0.036 0.025 0.153 0.004 0.001 0.007 N c -1.158 -1.117 0.021 0.134 0.696 0.567 0 4.35 0.513 0.204 0.170 -0.052 0.122 0.000 0.063 0.011 0.114 8.494 0.321 EGF-like domain . . 0.8849 0.8558 0.8630 0.8930 0.6540 0.9230 0.9103 0.8924 0.8757 0.8917 0.8702 0.8699 0.9437 0.6910 0.9324 0.9160 0.9012 hom 473.69 20 1 3496479 . T C 473.69 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.520;DP=20;Dels=0.00;FS=5.006;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=1.561;QD=23.68;ReadPosRankSum=1.561;VQSLOD=3.2560;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,19:20:14.70:506,15,0 1 3511934 3511934 A G exonic MEGF6 nonsynonymous SNV MEGF6:NM_001409:exon3:c.T344C:p.M115T 0.23 0.24 0.19 0.33 0.15 0.21 0.1900 0.2205 0.2274 0.3726 0.1567 0.1532 0.1828 0.2087 0.16 0.19 0.14 0.13 0.16 rs7513275 . . . . . . . . . . . . . 0.532 0.070 T 0.0 0.026 B 0.0 0.013 B 0.702 0.101 N 1.000 0.192 P -0.97 0.012 N -1.75 0.835 D 0.44 0.033 N 0.051 0.032 -1.101 0.040 T 0.000 0.000 T . . . -1.165 0.026 0.008 0.244 0.011 0.145 0.183 N c -1.136 -1.022 0.054 0.150 0.646 0.450 0 -0.333 0.120 0.757 0.259 -0.780 0.033 0.468 0.265 0.021 0.135 2.150 0.035 EMI domain . . 0.1875 0.2139 0.2202 0.1871 0.3711 0.1525 0.1475 0.1743 0.2061 0.1735 0.2134 0.2279 0.1987 0.3897 0.1425 0.1317 0.1582 het 587.91 62 1 3511934 . A G 587.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.029;DP=62;Dels=0.00;FS=4.349;HRun=0;HaplotypeScore=2.7658;MQ=59.02;MQ0=0;MQRankSum=1.366;QD=9.48;ReadPosRankSum=0.955;VQSLOD=5.2348;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,27:62:99:618,0,768 1 3548136 3548136 T C exonic WRAP73 synonymous SNV WRAP73:NM_017818:exon11:c.A1134G:p.A378A 0.91 0.89 0.85 0.99 0.84 0.95 0.8727 0.8771 0.8693 0.9971 0.8891 0.8402 0.8681 0.9303 0.85 0.88 0.84 0.77 0.79 rs2760321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8701 0.8776 0.8709 0.8074 0.9966 0.8802 0.8382 0.8484 0.9268 0.8677 0.8737 0.8556 0.7715 0.9944 0.8812 0.8500 0.8671 het 698.35 66 1 3548136 . T C 698.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.177;DP=66;Dels=0.00;FS=7.734;HRun=0;HaplotypeScore=3.5362;MQ=58.89;MQ0=0;MQRankSum=1.298;QD=10.58;ReadPosRankSum=-1.231;VQSLOD=4.5648;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,28:66:99:728,0,1070 1 3638674 3638674 C T exonic TP73 synonymous SNV TP73:NM_001126240:exon3:c.C372T:p.T124T,TP73:NM_001126241:exon3:c.C372T:p.T124T,TP73:NM_001126242:exon3:c.C372T:p.T124T,TP73:NM_001204189:exon3:c.C372T:p.T124T,TP73:NM_001204190:exon3:c.C372T:p.T124T,TP73:NM_001204191:exon3:c.C372T:p.T124T,TP73:NM_001204192:exon3:c.C306T:p.T102T,TP73:NM_001204184:exon5:c.C519T:p.T173T,TP73:NM_001204185:exon5:c.C519T:p.T173T,TP73:NM_001204186:exon5:c.C519T:p.T173T,TP73:NM_001204187:exon5:c.C519T:p.T173T,TP73:NM_001204188:exon5:c.C519T:p.T173T,TP73:NM_005427:exon5:c.C519T:p.T173T 0.74 0.77 0.72 0.53 0.91 0.73 0.8101 0.7695 0.6204 0.5180 0.8475 0.8972 0.8303 0.7576 0.85 0.77 0.89 0.79 0.91 rs1801174 COSM3997495;COSM3997496 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8051 0.7681 0.6279 0.9287 0.5133 0.8573 0.8973 0.8483 0.7614 0.8295 0.7682 0.6408 0.9338 0.5260 0.8641 0.8957 0.8684 het 2033.73 144 1 3638674 . C T 2033.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.903;DP=144;Dels=0.00;FS=4.538;HRun=0;HaplotypeScore=9.5367;MQ=58.28;MQ0=0;MQRankSum=1.418;QD=14.12;ReadPosRankSum=-0.559;VQSLOD=3.6388;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,74:144:99:2064,0,1582 1 3745924 3745924 G A exonic CEP104 nonsynonymous SNV CEP104:NM_014704:exon15:c.C2057T:p.A686V 0.21 0.08 0.13 0.52 0.056 0.28 0.1428 0.0947 0.2680 0.5181 0.0941 0.0510 0.1272 0.2774 0.06 0.088 0.046 0.17 0.016 rs2275831 . . . . . . . . . . . . . 0.183 0.217 T 0.061 0.217 B 0.019 0.176 B 0.019 0.274 N 0.858 0.284 P 1.81 0.478 L 1.05 0.400 T -1.55 0.375 N 0.082 0.075 -0.916 0.461 T 0.000 0.000 T . . . 2.627 0.377 20.4 0.922 0.210 0.903 0.511 D c -0.282 -0.147 0.033 0.141 0.706 0.609 0 4.39 0.520 2.135 0.415 0.120 0.210 1.000 0.715 0.625 0.293 7.149 0.246 . ENSG00000235169.3 Cells_Transformed_fibroblasts 0.1385 0.0890 0.2351 0.0429 0.5047 0.0832 0.0496 0.1012 0.2678 0.1003 0.0909 0.1945 0.0530 0.5266 0.0894 0.0583 0.0957 het 590.05 61 1 3745924 . G A 590.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.974;DP=61;Dels=0.00;FS=2.321;HRun=0;HaplotypeScore=4.6547;MQ=58.46;MQ0=0;MQRankSum=1.787;QD=9.67;ReadPosRankSum=0.007;VQSLOD=5.1125;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,28:61:99:620,0,866 1 3753136 3753136 A T exonic CEP104 nonsynonymous SNV CEP104:NM_014704:exon10:c.T1240A:p.L414I 0.3 0.06 0.49 0.34 0.43 0.33 0.3698 0.1096 0.4091 0.3225 0.3356 0.4291 0.3491 0.3058 0.33 0.12 0.43 0.26 0.47 rs2275824 COSM3746952 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver) . . . . . . . . . . . 0.166 0.323 T 0.021 0.174 B 0.018 0.173 B 0.863 0.071 N 1 0.090 P 0 0.065 N 2.35 0.162 T -0.02 0.116 N 0.03 0.245 -0.898 0.482 T 0.000 0.000 T . . . 1.122 0.202 11.33 0.919 0.206 0.040 0.094 N c -1.193 -1.215 0.039 0.144 0.732 0.924 0 -3.25 0.047 -0.286 0.084 -0.509 0.051 0.000 0.063 0.004 0.083 2.575 0.045 . ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000130764.5|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000235169.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood|Whole_Blood 0.3750 0.1026 0.4230 0.3396 0.3250 0.3351 0.4350 0.3838 0.3068 0.3190 0.1036 0.4296 0.3311 0.3194 0.3194 0.4328 0.4019 het 2012.37 178 1 3753136 . A T 2012.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.250;DP=178;Dels=0.00;FS=2.004;HRun=0;HaplotypeScore=1.9722;MQ=58.97;MQ0=0;MQRankSum=-0.001;QD=11.31;ReadPosRankSum=-0.254;VQSLOD=5.9230;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,83:178:99:2042,0,2380 1 3755675 3755675 T C exonic CEP104 synonymous SNV CEP104:NM_014704:exon8:c.A744G:p.E248E 0.79 0.92 0.87 0.48 0.94 0.72 0.8584 0.9075 0.7321 0.4837 0.9061 0.9496 0.8733 0.7233 0.94 0.91 0.95 0.83 0.98 rs1891941 COSM5619177 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8565 0.9092 0.7574 0.9561 0.4882 0.9154 0.9499 0.8938 0.7260 0.8998 0.9088 0.8055 0.9470 0.4764 0.9106 0.9416 0.9043 het 2278.97 163 1 3755675 . T C 2278.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.938;DP=163;Dels=0.00;FS=2.268;HRun=0;HaplotypeScore=3.3471;MQ=58.84;MQ0=0;MQRankSum=1.213;QD=13.98;ReadPosRankSum=-0.090;VQSLOD=6.1581;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,79:163:99:2309,0,2185 1 3761479 3761479 C T exonic CEP104 synonymous SNV CEP104:NM_014704:exon6:c.G558A:p.T186T 0.35 0.23 0.49 0.34 0.43 0.33 0.3832 0.2530 0.4161 0.3233 0.3356 0.4297 0.3557 0.3060 0.38 0.26 0.43 0.38 0.46 rs2275822 COSM3997506;COSM3997507 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3857 0.2506 0.4301 0.3396 0.3255 0.3352 0.4358 0.3919 0.3070 0.3630 0.2532 0.4415 0.3311 0.3226 0.3196 0.4341 0.4127 het 1081.43 101 1 3761479 . C T 1081.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.358;DP=101;Dels=0.00;FS=13.589;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;MQRankSum=0.430;QD=10.71;ReadPosRankSum=-0.194;VQSLOD=4.4158;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,45:101:99:1111,0,1420 1 3786189 3786189 G A exonic DFFB synonymous SNV DFFB:NM_001282669:exon5:c.G603A:p.T201T,DFFB:NM_001320132:exon5:c.G384A:p.T128T,DFFB:NM_001320136:exon5:c.G339A:p.T113T,DFFB:NM_004402:exon5:c.G531A:p.T177T 0.21 0.14 0.23 0.13 0.35 0.26 0.2939 0.1677 0.1520 0.1384 0.3086 0.3653 0.2860 0.2606 0.31 0.18 0.37 0.22 0.3 rs1141070 COSM4143881 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2892 0.1639 0.1620 0.3153 0.1400 0.2981 0.3709 0.2979 0.2614 0.2856 0.1759 0.1933 0.2748 0.1562 0.3032 0.3622 0.3289 het 1257.72 92 1 3786189 . G A 1257.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.015;DP=92;Dels=0.00;FS=0.798;HRun=0;HaplotypeScore=3.7097;MQ=59.59;MQ0=0;MQRankSum=0.698;QD=13.67;ReadPosRankSum=-0.149;VQSLOD=6.0042;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,44:92:99:1288,0,1235 1 3800242 3800242 A G exonic DFFB synonymous SNV DFFB:NM_001282669:exon7:c.A1026G:p.P342P,DFFB:NM_001320132:exon7:c.A807G:p.P269P,DFFB:NM_001320136:exon7:c.A762G:p.P254P,DFFB:NM_004402:exon7:c.A954G:p.P318P 0.36 0.31 0.33 0.35 0.41 0.39 0.3971 0.3391 0.2580 0.3335 0.3716 0.4409 0.4108 0.3969 0.41 0.34 0.45 0.4 0.43 rs3205087 COSM4143882 1(kidney);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3871 0.3373 0.2544 0.3233 0.3233 0.3647 0.4505 0.3953 0.3977 0.3905 0.3411 0.2959 0.2667 0.3240 0.3698 0.4365 0.4255 het 2262.07 232 1 3800242 . A G 2262.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.416;DP=232;DS;Dels=0.00;FS=1.046;HRun=0;HaplotypeScore=11.5315;MQ=58.73;MQ0=0;MQRankSum=2.244;QD=9.75;ReadPosRankSum=1.413;VQSLOD=3.0018;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,96:232:99:2292,0,3572 1 3807593 3807593 G C exonic C1orf174 nonsynonymous SNV C1orf174:NM_207356:exon3:c.C158G:p.T53R 1. 1. 1. 1. 0.99 1. 0.9941 0.9988 0.9980 0.9999 0.9941 0.9912 0.9978 0.9968 0.99 1. 0.99 1. 0.99 rs4274008 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1 0.090 P -2.08 0.002 N 3.42 0.055 T 4.18 0.000 N 0.071 0.059 -1.001 0.297 T 0.000 0.000 T . . . -0.465 0.058 0.268 0.101 0.001 0.009 0.034 N c -1.378 -1.187 1.000 0.517 0.707 0.730 0 4.36 0.515 0.120 0.154 0.067 0.174 0.440 0.263 0.479 0.267 5.550 0.163 . . . 0.9944 0.9990 0.9973 0.9986 0.9998 0.9951 0.9905 0.9960 0.9976 0.9938 0.9985 0.9976 0.9967 1 0.9937 0.9906 0.9868 hom 6394.95 205 1 3807593 . G C 6394.95 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6109;MQ=59.02;MQ0=0;QD=31.19;VQSLOD=6.9033;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:6394,488,0 1 4772717 4772717 G A exonic AJAP1 nonsynonymous SNV AJAP1:NM_001042478:exon2:c.G787A:p.G263R,AJAP1:NM_018836:exon2:c.G787A:p.G263R 0.36 0.17 0.38 0.27 0.64 0.41 0.5284 0.2346 0.2865 0.2568 0.5495 0.6596 0.5527 0.4748 0.52 0.25 0.67 0.46 0.68 rs242056 . . . . . . . . . . . . . 0.261 0.165 T 0.999 0.764 D 0.892 0.615 P 0.004 0.346 N 0.829 0.288 P 1.67 0.430 L 0.9 0.453 T -3.86 0.724 D 0.13 0.149 -1.012 0.263 T 0.000 0.000 T . . . 2.786 0.396 21.3 0.987 0.444 0.832 0.420 D c 0.027 -0.050 1.000 0.441 0.677 0.550 0 4.76 0.600 1.474 0.348 0.994 0.605 0.019 0.194 0.308 0.238 13.265 0.594 AJAP1/PANP\x2c C-terminal . . 0.5238 0.2274 0.3062 0.6046 0.2586 0.5621 0.6676 0.5588 0.4636 0.4902 0.2327 0.3498 0.5861 0.2235 0.5576 0.6538 0.5780 het 2517.43 197 1 4772717 . G A 2517.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.649;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1268;MQ=58.31;MQ0=0;MQRankSum=0.293;QD=12.78;ReadPosRankSum=-0.865;VQSLOD=4.3708;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,100:197:99:2547,0,2435 1 5926507 5926507 T C exonic NPHP4 synonymous SNV NPHP4:NM_001291594:exon22:c.A2034G:p.E678E,NPHP4:NM_001291593:exon23:c.A2031G:p.E677E,NPHP4:NM_015102:exon26:c.A3570G:p.E1190E 0.32 0.16 0.38 0.28 0.41 0.43 0.4604 0.2681 0.4606 0.3327 0.4990 0.4929 0.4565 0.4711 0.35 0.2 0.42 0.28 . rs555164 COSM1126976 1(breast);1(prostate) Benign|Benign|Benign not_specified|Renal_dysplasia_and_retinal_aplasia|Nephronophthisis RCV000081716.5|RCV000266333.1|RCV000324301.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|CN117960:ORPHA3156:236531005|C0687120:204958008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3935 0.2006 0.3708 0.4706 0.2574 0.4254 0.4226 0.4067 0.4305 0.3592 0.2075 0.3771 0.5099 0.2837 0.4237 0.4333 0.4066 het 161.67 18 1 5926507 . T C 161.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.532;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.133;QD=8.98;ReadPosRankSum=1.022;VQSLOD=11.4778;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:192,0,275 1 5937168 5937168 G A exonic NPHP4 synonymous SNV NPHP4:NM_001291594:exon16:c.C1266T:p.R422R,NPHP4:NM_001291593:exon17:c.C1263T:p.R421R,NPHP4:NM_015102:exon20:c.C2802T:p.R934R 0.45 0.29 0.46 0.73 0.42 0.42 0.4751 0.3408 0.5633 0.7722 0.4541 0.4302 0.4315 0.4962 0.35 0.29 0.38 0.46 . rs3747992 COSM426517 1(haematopoietic_and_lymphoid_tissue);1(liver) Benign|Benign|Benign not_specified|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia RCV000081712.5|RCV000288432.1|RCV000343148.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0687120:204958008|CN117960:ORPHA3156:236531005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4289 0.2861 0.5138 0.3719 0.7590 0.3931 0.3854 0.4017 0.4190 0.3757 0.2893 0.4940 0.4007 0.7342 0.3959 0.3744 0.3898 het 324.81 22 1 5937168 . G A 324.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.670;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;MQRankSum=-1.883;QD=14.76;ReadPosRankSum=-0.604;VQSLOD=6.1520;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,13:22:99:355,0,247 1 6046264 6046264 G A exonic NPHP4 nonsynonymous SNV NPHP4:NM_015102:exon2:c.C86T:p.T29M 0.038 0.098 0.0086 0.001 0.027 0.029 0.0323 0.0868 0.0114 0.0002 0.0427 0.0310 0.0361 0.0326 0.043 0.078 0.025 0.022 . rs12142270 COSM3751330 1(large_intestine) Benign|Likely benign|Likely benign not_specified|Renal_dysplasia_and_retinal_aplasia|Nephronophthisis RCV000253888.1|RCV000307502.1|RCV000359933.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|CN117960:ORPHA3156:236531005|C0687120:204958008 . . . . . . 0.01 0.564 D 0.992 0.629 D 0.59 0.486 P 0.104 0.197 N 1 0.090 N 1.32 0.331 L -2.25 0.873 D -0.81 0.223 N 0.161 0.315 -0.953 0.404 T 0.027 0.116 T . . . 2.265 0.333 17.93 0.997 0.811 0.056 0.114 N c -0.163 -0.296 1.000 0.462 0.651 0.465 0 3.77 0.423 0.911 0.280 1.048 0.713 0.009 0.180 0.915 0.391 9.094 0.356 . . . 0.0294 0.0894 0.0099 0.0317 0.0001 0.0443 0.0275 0.0340 0.0321 0.0446 0.0894 0.0167 0.0430 0.0006 0.0470 0.0247 0.0387 het 720.32 52 1 6046264 . G A 720.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.710;DP=52;Dels=0.00;FS=4.076;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=-0.653;QD=13.85;ReadPosRankSum=1.278;VQSLOD=5.8022;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,29:52:99:750,0,613 1 6158562 6158562 A G exonic KCNAB2 synonymous SNV KCNAB2:NM_001199863:exon14:c.A831G:p.S277S,KCNAB2:NM_172130:exon15:c.A990G:p.S330S,KCNAB2:NM_001199860:exon16:c.A1032G:p.S344S,KCNAB2:NM_001199861:exon16:c.A1032G:p.S344S,KCNAB2:NM_001199862:exon16:c.A1176G:p.S392S,KCNAB2:NM_003636:exon16:c.A1032G:p.S344S 0.54 0.64 0.61 0.4 0.61 0.44 0.5750 0.6385 0.6817 0.4055 0.5546 0.6044 0.5343 0.4419 0.61 0.64 0.6 0.63 0.63 rs2229002 COSM3747041;COSM3747040 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5745 0.6397 0.6743 0.4136 0.4049 0.5581 0.6153 0.5765 0.4447 0.6086 0.6488 0.6355 0.3907 0.3810 0.5673 0.6239 0.5859 het 924.45 98 1 6158562 . A G 924.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.619;DP=98;Dels=0.00;FS=1.679;HRun=0;HaplotypeScore=3.5159;MQ=58.52;MQ0=0;MQRankSum=0.181;QD=9.43;ReadPosRankSum=-0.414;VQSLOD=5.8335;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,39:98:99:954,0,1441 1 6184092 6184092 A G exonic CHD5 nonsynonymous SNV CHD5:NM_015557:exon31:c.T4615C:p.S1539P 0.73 0.61 0.6 0.99 0.6 0.83 0.6570 0.6074 0.6040 0.9969 0.7162 0.5919 0.6765 0.7811 0.59 0.6 0.58 0.63 0.57 rs2843493 COSM4144117;COSM4144116 1(thyroid) . . . . . . . . . . . 0.365 0.117 T 0.0 0.026 B 0.0 0.013 B 0.024 0.262 N 1.000 0.090 P 0.345 0.112 N -2.8 0.911 D -0.06 0.079 N 0.013 0.005 -0.976 0.359 T 0.000 0.000 T . . . 2.368 0.346 18.61 0.973 0.329 0.005 0.025 N c -0.930 -0.794 0.053 0.150 0.646 0.450 0 3.35 0.373 0.362 0.199 0.062 0.168 0.161 0.236 0.946 0.421 6.147 0.194 . . . 0.6509 0.6008 0.5903 0.6946 0.9964 0.7045 0.5747 0.6241 0.7752 0.6270 0.5932 0.5754 0.7152 0.9975 0.7002 0.5893 0.6458 hom 1107.11 36 1 6184092 . A G 1107.11 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;QD=30.75;VQSLOD=9.3692;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:93.27:1140,93,0 1 6196869 6196869 A G exonic CHD5 synonymous SNV CHD5:NM_015557:exon16:c.T2493C:p.I831I 0.52 0.34 0.47 0.8 0.39 0.63 0.4835 0.3458 0.5081 0.7965 0.5425 0.4241 0.5155 0.6030 0.39 0.34 0.41 0.43 0.38 rs2250358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4860 0.3394 0.4973 0.5004 0.7918 0.5342 0.4135 0.4629 0.6024 0.4371 0.3428 0.4772 0.5497 0.7983 0.5355 0.4214 0.4990 hom 1914.65 68 1 6196869 . A G 1914.65 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;QD=28.16;VQSLOD=8.0494;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:1948,159,0 1 6204161 6204161 G A exonic CHD5 synonymous SNV CHD5:NM_015557:exon12:c.C1857T:p.Y619Y 0.083 0.015 0.21 0.034 0.12 0.096 0.1142 0.0316 0.1675 0.0197 0.1234 0.1296 0.1435 0.1109 0.092 0.033 0.12 0.076 0.066 rs17436816 COSM3751336 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1171 0.0284 0.1616 0.2171 0.0191 0.1170 0.1219 0.1442 0.1133 0.0875 0.0298 0.1663 0.2351 0.0167 0.1176 0.1126 0.1153 het 3976.52 250 1 6204161 . G A 3976.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.371;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8629;MQ=59.48;MQ0=0;MQRankSum=2.252;QD=15.91;ReadPosRankSum=-0.716;VQSLOD=5.4455;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:124,126:250:99:3340,0,3181 1 6209363 6209363 T C exonic CHD5 synonymous SNV CHD5:NM_015557:exon8:c.A1104G:p.V368V 0.52 0.72 0.21 0.65 0.31 0.56 0.4012 0.6645 0.2514 0.6691 0.4357 0.3113 0.3968 0.5383 0.41 0.65 0.29 0.58 0.34 rs12565328 COSM3751337 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3790 0.6667 0.2321 0.3503 0.6619 0.4242 0.2939 0.3314 0.5292 0.4378 0.6593 0.2458 0.3523 0.6740 0.4147 0.3060 0.3872 het 981.27 78 1 6209363 . T C 981.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.624;DP=78;Dels=0.00;FS=1.059;HRun=0;HaplotypeScore=1.8920;MQ=59.70;MQ0=0;MQRankSum=-0.225;QD=12.58;ReadPosRankSum=-0.205;VQSLOD=6.7843;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:1011,0,1129 1 6211183 6211183 G A exonic CHD5 synonymous SNV CHD5:NM_015557:exon7:c.C903T:p.F301F 0.51 0.69 0.21 0.65 0.3 0.53 0.3806 0.6243 0.2336 0.6627 0.4215 0.2984 0.3675 0.4989 0.39 0.61 0.28 0.56 0.34 rs9434711 COSM3751338 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3673 0.6304 0.2236 0.3499 0.6582 0.4214 0.2876 0.3215 0.4946 0.4260 0.6217 0.2375 0.3510 0.6693 0.4145 0.3033 0.3830 het 1409.44 99 1 6211183 . G A 1409.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.257;DP=99;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5887;MQ=60.00;MQ0=0;MQRankSum=0.256;QD=14.24;ReadPosRankSum=0.370;VQSLOD=5.6038;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,51:99:99:1439,0,1236 1 6215736 6215736 C G exonic CHD5 synonymous SNV CHD5:NM_015557:exon4:c.G429C:p.L143L 0.15 0.37 0.06 0.0079 0.081 0.13 0.0956 0.3194 0.0390 0.0067 0.0607 0.0791 0.0956 0.1213 0.16 0.32 0.075 0.16 0.11 rs12074369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0868 0.3270 0.0424 0.1000 0.0061 0.0574 0.0758 0.0778 0.1202 0.1342 0.3163 0.0561 0.0795 0.0080 0.0556 0.0697 0.0796 het 924.96 104 1 6215736 . C G 924.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.053;DP=104;Dels=0.00;FS=0.796;HRun=0;HaplotypeScore=0.9992;MQ=59.42;MQ0=0;MQRankSum=1.052;QD=8.89;ReadPosRankSum=-0.707;VQSLOD=5.6722;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,40:104:99:955,0,1884 1 6313938 6313938 C T exonic GPR153 nonsynonymous SNV GPR153:NM_207370:exon3:c.G626A:p.R209H 0.7 0.7 0.79 0.61 0.71 0.7 0.7075 0.7225 0.8217 0.5941 0.7000 0.7036 0.7235 0.6936 . . . 0.63 0.58 rs12735670 COSM3805738 1(breast);22(upper_aerodigestive_tract) . . . . . . . . . . . 0.394 0.107 T 0.012 0.151 B 0.011 0.145 B 0.002 0.369 N 0.411 0.324 P 0.695 0.181 N 0.97 0.425 T -0.35 0.129 N 0.146 0.172 -1.009 0.273 T 0.000 0.000 T . . . 1.052 0.195 10.95 0.937 0.230 0.512 0.286 D c -0.983 -0.894 0.889 0.258 0.660 0.495 0 2.03 0.256 -0.046 0.118 -0.902 0.026 0.653 0.280 0.000 0.016 7.468 0.263 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000158292.6|ENSG00000158292.6 Cells_Transformed_fibroblasts|Spleen 0.7068 0.7154 0.8109 0.7164 0.5942 0.7006 0.6961 0.7146 0.6882 0.7029 0.7154 0.7854 0.7053 0.5565 0.7100 0.7062 0.6871 hom 1192.73 36 1 6313938 . C T 1192.73 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.36;MQ0=0;QD=33.13;VQSLOD=9.0164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:99:1226,102,0 1 6314822 6314822 T C exonic GPR153 synonymous SNV GPR153:NM_207370:exon2:c.A144G:p.T48T 0.73 0.81 0.8 0.62 0.71 0.71 0.7092 0.7926 0.8205 0.5927 0.6900 0.6961 0.7195 0.6999 0.73 0.79 0.7 0.7 0.53 rs11590458 COSM4144138 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7121 0.7897 0.8151 0.7147 0.5978 0.6983 0.6942 0.7169 0.6984 0.7265 0.7927 0.7919 0.7053 0.5644 0.7106 0.7080 0.6930 hom 4410.28 140 1 6314822 . T C 4410.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.866;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3171;MQ=59.17;MQ0=0;MQRankSum=-1.658;QD=31.50;ReadPosRankSum=-0.619;VQSLOD=8.2040;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,139:140:99:4378,347,0 1 6614535 6614535 G A exonic NOL9 nonsynonymous SNV NOL9:NM_024654:exon1:c.C28T:p.R10W 0.72 0.43 0.85 0.79 0.86 0.82 0.8446 0.5262 0.9255 0.7922 0.9116 0.8716 0.8178 0.8249 0.79 0.57 0.89 0.62 0.57 rs4908923 COSM3751365 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.925 0.643 D 0.092 0.203 N 1 0.090 P 1.04 0.263 L 1.96 0.223 T -2.44 0.534 N 0.215 0.291 -1.090 0.055 T 0.000 0.000 T . . . 5.337 0.723 25.8 0.998 0.894 0.006 0.026 N c -0.228 -0.409 1.0 0.983 0.442 0.072 0 2.15 0.265 0.060 0.141 1.048 0.713 0.002 0.151 0.005 0.090 6.737 0.225 . ENSG00000162408.10|ENSG00000162408.10|ENSG00000171680.16 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.8459 0.4838 0.9168 0.8481 0.7716 0.9030 0.8689 0.8417 0.8161 0.7655 0.5112 0.8904 0.8510 0.7702 0.9095 0.8670 0.8193 hom 410.80 20 1 6614535 . G A 410.80 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.84;MQ0=0;QD=20.54;VQSLOD=6.1364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:20:39.09:444,39,0 1 6635231 6635231 A G exonic TAS1R1 nonsynonymous SNV TAS1R1:NM_138697:exon3:c.A1039G:p.K347E 0.92 0.72 0.98 1. 1. 1. 0.9769 0.7550 0.9886 1 1 0.9991 0.9863 0.9989 0.92 0.76 1. 0.85 0.97 rs10864628 COSM4144162 1(thyroid) . . . . . . . . . . . 0.986 0.020 T 0.056 0.214 B 0.028 0.201 B 0.834 0.091 N 1 0.090 P -1.4 0.006 N -2.1 0.862 D -0.13 0.090 N 0.285 0.344 -0.971 0.370 T 0.000 0.000 T . . . -1.767 0.011 0.002 0.335 0.020 0.006 0.026 N c -1.379 -1.350 0.635 0.220 0.554 0.283 0 -0.461 0.115 -0.130 0.104 -0.281 0.084 0.000 0.063 0.000 0.016 6.901 0.233 Periplasmic binding protein-like I|Receptor\x2c ligand binding region . . 0.9811 0.7492 0.9877 0.9990 1 1 0.9991 0.9882 0.9990 0.9312 0.7590 0.9905 1 1 1 0.9995 0.9878 hom 1878.02 56 1 6635231 . A G 1878.02 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;QD=33.54;VQSLOD=9.6260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1911,150,0 1 6659505 6659505 G A exonic KLHL21 synonymous SNV KLHL21:NM_001324309:exon2:c.C1029T:p.S343S,KLHL21:NM_014851:exon2:c.C1029T:p.S343S 0.35 0.27 0.31 0.38 0.32 0.48 0.3456 0.2716 0.2667 0.4095 0.2836 0.3385 0.3747 0.4686 0.31 0.27 0.34 0.41 0.31 rs2232460 COSM426608 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3364 0.2657 0.2612 0.3754 0.4032 0.2765 0.3343 0.3421 0.4504 0.3110 0.2563 0.2644 0.3609 0.4064 0.2692 0.3437 0.3119 hom 1146.02 36 1 6659505 . G A 1146.02 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.36;MQ0=0;QD=31.83;VQSLOD=9.0316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:93.28:1179,93,0 1 6693097 6693097 A G exonic THAP3 nonsynonymous SNV THAP3:NM_001195752:exon5:c.A677G:p.Q226R,THAP3:NM_001195753:exon6:c.A680G:p.Q227R 0.37 0.31 0.34 0.39 0.33 0.49 0.3911 0.3605 0.3266 0.4572 0.3063 0.3782 0.3925 0.4864 0.33 0.31 0.34 0.4 . rs3174820 COSM4417829 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.868 0.026 T 0.0 0.026 B 0.0 0.013 B 0.000 0.003 N 1 0.090 P 0 0.065 N -3.4 0.943 D 0.23 0.046 N 0.022 0.005 -0.934 0.436 T 0.000 0.000 T . . . -2.999 0.001 0.001 0.403 0.028 0.012 0.042 N c -2.020 -2.090 1.000 0.747 0.672 0.522 0 -7.5 0.012 -2.196 0.013 -0.552 0.047 0.000 0.063 0.008 0.104 1.286 0.019 . ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11 Adrenal_Gland|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis 0.3511 0.3137 0.2783 0.3974 0.4098 0.2766 0.3463 0.3588 0.4682 0.3339 0.3126 0.2883 0.3808 0.4151 0.2738 0.3540 0.3194 het 317.03 28 1 6693097 . A G 317.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.091;DP=28;Dels=0.00;FS=7.402;HRun=3;HaplotypeScore=2.4432;MQ=57.03;MQ0=0;MQRankSum=0.534;QD=11.32;ReadPosRankSum=-1.370;VQSLOD=2.9647;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,12:28:99:347,0,415 1 6704635 6704635 A G exonic DNAJC11 synonymous SNV DNAJC11:NM_018198:exon10:c.T1080C:p.G360G 0.83 0.87 0.96 0.57 0.92 0.87 0.8836 0.8781 0.9655 0.5977 0.8741 0.9093 0.8612 0.8803 0.9 0.88 0.91 0.86 0.87 rs200458 COSM3747064 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8861 0.8774 0.9650 0.9187 0.5945 0.8708 0.9087 0.9055 0.8829 0.8748 0.8724 0.9499 0.8841 0.5730 0.8712 0.9033 0.9041 hom 3233.06 104 1 6704635 . A G 3233.06 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4972;MQ=59.60;MQ0=0;QD=31.09;VQSLOD=9.3102;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3266,271,0 1 7723534 7723534 G A exonic CAMTA1 synonymous SNV CAMTA1:NM_001349608:exon8:c.G837A:p.S279S,CAMTA1:NM_001349612:exon8:c.G837A:p.S279S,CAMTA1:NM_001349609:exon9:c.G927A:p.S309S,CAMTA1:NM_001349610:exon9:c.G927A:p.S309S,CAMTA1:NM_015215:exon9:c.G927A:p.S309S 0.15 0.18 0.25 0.24 0.063 0.051 0.1189 0.1491 0.3579 0.2544 0.0634 0.0714 0.0928 0.0551 0.091 0.14 0.068 0.16 0.041 rs3737907 COSM5827993;COSM3751389 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1216 0.1556 0.3403 0.0318 0.2595 0.0665 0.0686 0.1032 0.0439 0.1076 0.1487 0.2876 0.0298 0.2469 0.0641 0.0719 0.0837 het 3029.02 161 1 7723534 . G A 3029.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.677;DP=161;DS;Dels=0.01;FS=1.408;HRun=0;HaplotypeScore=8.6476;MQ=59.58;MQ0=0;MQRankSum=-1.233;QD=18.70;ReadPosRankSum=-0.032;VQSLOD=3.1087;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,99:161:99:3059,0,1587 1 7723957 7723957 G A exonic CAMTA1 synonymous SNV CAMTA1:NM_001349608:exon8:c.G1260A:p.S420S,CAMTA1:NM_001349612:exon8:c.G1260A:p.S420S,CAMTA1:NM_001349609:exon9:c.G1350A:p.S450S,CAMTA1:NM_001349610:exon9:c.G1350A:p.S450S,CAMTA1:NM_015215:exon9:c.G1350A:p.S450S 0.4 0.39 0.45 0.33 0.43 0.42 0.4450 0.3792 0.5023 0.3479 0.5012 0.4652 0.3819 0.3961 0.43 0.37 0.46 0.41 0.4 rs12128526 COSM3751390;COSM5827995 1(breast);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign not_specified RCV000116536.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4477 0.3836 0.5062 0.3893 0.3513 0.5112 0.4621 0.4230 0.3947 0.4396 0.3886 0.4964 0.4333 0.3456 0.4891 0.4624 0.4754 hom 5209.57 148 1 7723957 . G A 5209.57 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.03;MQ0=0;QD=35.20;VQSLOD=8.9071;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:5209,412,0 1 7870048 7870048 T C exonic PER3 synonymous SNV PER3:NM_001289861:exon12:c.T1338C:p.S446S,PER3:NM_001289862:exon12:c.T1338C:p.S446S,PER3:NM_001289863:exon12:c.T1338C:p.S446S,PER3:NM_001289864:exon12:c.T381C:p.S127S,PER3:NM_016831:exon12:c.T1335C:p.S445S 0.88 0.97 0.76 0.72 0.93 0.94 0.8916 0.9634 0.6337 0.7226 0.9525 0.9295 0.9207 0.9361 0.94 0.96 0.93 0.85 0.93 rs228669 COSM4144191 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8810 0.9659 0.6494 0.9403 0.7160 0.9561 0.9280 0.8889 0.9389 0.9258 0.9636 0.7160 0.9570 0.7132 0.9588 0.9299 0.9294 hom 4216.30 134 1 7870048 . T C 4216.30 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4287;MQ=59.72;MQ0=0;QD=31.46;VQSLOD=7.3510;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4216,337,0 1 7880683 7880683 T G exonic PER3 nonsynonymous SNV PER3:NM_001289861:exon16:c.T1940G:p.V647G,PER3:NM_001289862:exon16:c.T1940G:p.V647G,PER3:NM_001289863:exon16:c.T1919G:p.V640G,PER3:NM_001289864:exon16:c.T983G:p.V328G,PER3:NM_016831:exon16:c.T1916G:p.V639G 0.12 0.07 0.21 0.0079 0.2 0.16 0.1662 0.0905 0.1862 0.0078 0.2470 0.1838 0.1659 0.1804 0.16 0.096 0.19 0.098 0.2 rs10462020 . . . . . . . . . . . . . 0.001 0.784 D 0.22 0.516 B 0.115 0.537 B 0.021 0.269 N 1.000 0.192 P 1.975 0.537 M 1.7 0.280 T -5.36 0.852 D 0.153 0.267 -1.097 0.045 T 0.000 0.001 T . . . 0.901 0.180 10.08 0.986 0.427 0.196 0.205 N c -0.790 -1.043 0.020 0.132 0.732 0.924 0 -6.91 0.015 0.678 0.248 -0.121 0.113 0.309 0.252 0.000 0.016 8.540 0.324 . ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8 Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Thyroid|Whole_Blood 0.1704 0.0897 0.1920 0.1458 0.0044 0.2445 0.1857 0.1754 0.1784 0.1592 0.0872 0.1611 0.1788 0.0025 0.2477 0.1950 0.1884 het 867.69 82 1 7880683 . T G 867.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.890;DP=82;Dels=0.00;FS=1.960;HRun=1;HaplotypeScore=3.1233;MQ=58.69;MQ0=0;MQRankSum=0.128;QD=10.58;ReadPosRankSum=0.109;VQSLOD=6.2401;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,37:82:99:898,0,1140 1 7887493 7887493 T C exonic PER3 nonsynonymous SNV PER3:NM_001289861:exon18:c.T2504C:p.L835P,PER3:NM_001289862:exon18:c.T2504C:p.L835P,PER3:NM_001289863:exon18:c.T2483C:p.L828P,PER3:NM_001289864:exon18:c.T1547C:p.L516P,PER3:NM_016831:exon18:c.T2480C:p.L827P 0.98 0.98 0.97 1. 0.95 0.98 0.9688 0.9724 0.9892 0.9990 0.9645 0.9591 0.9769 0.9771 0.96 0.97 0.95 0.97 0.97 rs228696 . . . . . . . . . . . . . 0.501 0.077 T 0.0 0.026 B 0.0 0.040 B 0.738 0.064 N 1 0.090 P -1.435 0.006 N 2.88 0.103 T 3.58 0.001 N 0.05 0.100 -0.965 0.383 T 0.000 0.000 T . . . -0.730 0.043 0.061 0.453 0.035 0.002 0.014 N c -1.279 -1.279 1.000 0.747 0.707 0.730 0 2.16 0.265 0.951 0.285 -0.327 0.075 0.002 0.151 0.000 0.016 6.979 0.237 . . . 0.9695 0.9737 0.9858 0.9741 0.9994 0.9680 0.9572 0.9650 0.9782 0.9676 0.9709 0.9845 0.9801 1 0.9691 0.9606 0.9674 hom 4646.80 138 1 7887493 . T C 4646.80 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4496;MQ=59.23;MQ0=0;QD=33.67;VQSLOD=7.9222;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,137:138:99:4646,379,0 1 7890064 7890064 A G exonic;splicing PER3;PER3 NM_001289861:exon20:c.3002-2A>G;NM_001289863:exon20:c.2981-2A>G synonymous SNV PER3:NM_001289862:exon19:c.A3057G:p.T1019T,PER3:NM_001289864:exon19:c.A2097G:p.T699T,PER3:NM_016831:exon19:c.A3030G:p.T1010T 0.24 0.24 0.21 0.15 0.29 0.33 0.1347 0.1460 0.0618 0.0671 0.1506 0.1544 0.1582 0.1539 . . . . 0.32 rs12023156 COSM3747080 1(breast);2(liver) . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . -0.721 0.044 0.064 0.478 0.039 0.014 0.047 N c -0.742 -0.983 1.000 0.454 0.707 0.730 0 0.119 0.139 -0.791 0.047 -1.623 0.009 0.000 0.063 0.000 0.016 . . . . . 0.1385 0.1506 0.0969 0.1174 0.1019 0.2008 0.1417 0.1659 0.1427 0.4091 0.3826 0.3552 0.4430 0.3528 0.4270 0.4224 0.4245 het 2819.82 173 1 7890064 . A G 2819.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.237;DP=173;Dels=0.00;FS=2.761;HRun=2;HaplotypeScore=9.0990;MQ=59.21;MQ0=1;MQRankSum=-0.569;QD=16.30;ReadPosRankSum=0.270;VQSLOD=3.3368;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,102:173:99:2850,0,1825 1 7890117 7890117 T C exonic PER3 nonsynonymous SNV PER3:NM_001289862:exon19:c.T3110C:p.M1037T,PER3:NM_001289864:exon19:c.T2150C:p.M717T,PER3:NM_016831:exon19:c.T3083C:p.M1028T,PER3:NM_001289861:exon20:c.T3053C:p.M1018T,PER3:NM_001289863:exon20:c.T3032C:p.M1011T 0.19 0.097 0.29 0.051 0.29 0.26 0.2531 0.1146 0.2469 0.0538 0.3247 0.2903 0.2852 0.2677 0.24 0.13 0.3 0.15 0.29 rs2640909 COSM1741534 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . 0.203 0.201 T 0.0 0.163 B 0.001 0.154 B 0.039 0.019 N 1 0.090 P 0 0.065 N 2.58 0.134 T 0.76 0.028 N 0.051 0.043 -0.939 0.428 T 0.000 0.000 T . . . -1.496 0.017 0.003 0.390 0.026 0.001 0.007 N c -1.594 -1.674 1.000 0.462 0.707 0.730 0 -1.54 0.081 -0.207 0.093 0.341 0.273 0.007 0.175 0.031 0.148 3.401 0.068 . ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Whole_Blood 0.1356 0.0570 0.1371 0.1342 0.0241 0.2251 0.1539 0.1548 0.1326 0.2280 0.1115 0.2373 0.3179 0.0489 0.3251 0.2876 0.2697 het 4023.71 246 1 7890117 . T C 4023.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.525;DP=246;Dels=0.00;FS=5.194;HRun=0;HaplotypeScore=9.9578;MQ=59.36;MQ0=0;MQRankSum=-1.743;QD=16.36;ReadPosRankSum=-0.501;VQSLOD=2.2427;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,134:246:99:3409,0,2955 1 7897133 7897133 A G exonic PER3 nonsynonymous SNV PER3:NM_001289862:exon21:c.A3473G:p.H1158R,PER3:NM_001289864:exon21:c.A2513G:p.H838R,PER3:NM_016831:exon21:c.A3446G:p.H1149R,PER3:NM_001289861:exon22:c.A3416G:p.H1139R,PER3:NM_001289863:exon22:c.A3395G:p.H1132R 0.12 0.071 0.21 0.0079 0.2 0.16 0.1659 0.0907 0.1876 0.0073 0.2483 0.1839 0.1674 0.1757 0.16 0.096 0.19 0.098 0.2 rs10462021 COSM3751396 1(large_intestine) . . . . . . . . . . . 0.254 0.189 T 0.002 0.090 B 0.003 0.080 B 0.119 0.027 N 1 0.090 P 0.345 0.112 N 2.57 0.136 T -0.76 0.212 N 0.015 0.007 -0.990 0.327 T 0.000 0.000 T . . . -0.101 0.084 1.720 0.729 0.098 0.023 0.065 N c -1.408 -1.500 0.409 0.202 0.563 0.310 0 -8.51 0.008 -0.017 0.124 -0.855 0.029 0.000 0.063 0.019 0.132 1.389 0.021 Period circadian-like\x2c C-terminal ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8 Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Thyroid|Whole_Blood 0.1706 0.0902 0.1920 0.1458 0.0042 0.2446 0.1861 0.1758 0.1777 0.1591 0.0875 0.1611 0.1788 0.0025 0.2480 0.1947 0.1878 het 1030.65 79 1 7897133 . A G 1030.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.684;DP=79;Dels=0.00;FS=1.874;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.456;QD=13.05;ReadPosRankSum=-0.260;VQSLOD=6.6268;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,41:79:99:1061,0,983 1 7913430 7913430 G A exonic UTS2 nonsynonymous SNV UTS2:NM_021995:exon1:c.C62T:p.T21M 0.48 0.43 0.41 0.35 0.57 0.63 0.5229 0.4688 0.2982 0.3526 0.4511 0.5730 0.5650 0.6278 0.54 0.47 0.57 0.46 0.51 rs228648 COSM3751400 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.017 0.512 D 0.216 0.285 B 0.023 0.188 B . . . 1 0.090 P . . . 1.34 0.348 T -0.58 0.174 N 0.053 0.035 -0.943 0.422 T 0.000 0.000 T . . . 1.600 0.254 13.85 0.930 0.220 0.012 0.042 N c -0.958 -1.083 0.395 0.201 0.497 0.185 0 -3.06 0.050 -0.447 0.068 -0.102 0.116 0.001 0.137 0.052 0.166 10.906 0.461 . . . 0.5129 0.4691 0.3172 0.6255 0.3496 0.4497 0.5722 0.5339 0.6302 0.5079 0.4647 0.3852 0.6225 0.3683 0.4607 0.5617 0.5358 het 1040.38 89 1 7913430 . G A 1040.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.387;DP=89;Dels=0.00;FS=1.870;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=2.047;QD=11.69;ReadPosRankSum=1.426;VQSLOD=5.6363;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,39:89:99:1070,0,1283 1 8390495 8390495 A G exonic SLC45A1 synonymous SNV SLC45A1:NM_001080397:exon5:c.A1044G:p.P348P 0.78 0.74 0.78 0.85 0.74 0.79 0.7693 0.7588 0.7824 0.8524 0.8560 0.7457 0.7664 0.7799 0.74 0.75 0.74 0.71 0.5 rs1058619 COSM3749072;COSM3749071 1(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7694 0.7563 0.7774 0.6359 0.8537 0.8548 0.7484 0.7389 0.7807 0.7804 0.7466 0.7673 0.6733 0.8605 0.8697 0.7717 0.8031 het 223.13 31 1 8390495 . A G 223.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=59.25;MQ0=0;MQRankSum=0.094;QD=7.20;ReadPosRankSum=-0.188;VQSLOD=5.1249;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,11:31:99:253,0,440 1 8390888 8390888 G A exonic SLC45A1 synonymous SNV SLC45A1:NM_001080397:exon5:c.G1437A:p.P479P 0.34 0.54 0.29 0.17 0.33 0.3 0.3144 0.5137 0.2599 0.1689 0.2096 0.3238 0.3114 0.3086 0.39 0.51 0.32 0.36 0.43 rs2289731 COSM4144193;COSM426744 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3049 0.5146 0.2643 0.4091 0.1700 0.2037 0.3176 0.3328 0.3099 0.3433 0.5203 0.2768 0.3675 0.1677 0.1916 0.3022 0.2781 het 605.09 88 1 8390888 . G A 605.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.843;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9937;MQ=58.62;MQ0=0;MQRankSum=0.162;QD=6.88;ReadPosRankSum=-0.478;VQSLOD=5.1706;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,27:88:99:635,0,1694 1 8418644 8418644 C A exonic RERE synonymous SNV RERE:NM_001042682:exon10:c.G2289T:p.R763R,RERE:NM_001042681:exon20:c.G3951T:p.R1317R,RERE:NM_012102:exon21:c.G3951T:p.R1317R 0.8 0.86 0.78 0.9 0.67 0.75 0.7221 0.8407 0.7936 0.8888 0.5744 0.6787 0.7215 0.7390 0.73 0.84 0.68 0.79 0.48 rs11121172 COSM681943 1(lung);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7177 0.8441 0.7906 0.7888 0.8932 0.5656 0.6675 0.7118 0.7403 0.7193 0.8373 0.7897 0.7979 0.9005 0.5594 0.6675 0.6495 het 213.28 19 1 8418644 . C A 213.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.184;DP=19;Dels=0.00;FS=2.077;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.204;QD=11.23;ReadPosRankSum=0.449;VQSLOD=6.2385;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:243,0,274 1 8418650 8418650 T C exonic RERE synonymous SNV RERE:NM_001042682:exon10:c.A2283G:p.R761R,RERE:NM_001042681:exon20:c.A3945G:p.R1315R,RERE:NM_012102:exon21:c.A3945G:p.R1315R 0.8 0.87 0.78 0.9 0.67 0.75 0.7225 0.8439 0.7936 0.8889 0.5734 0.6795 0.7195 0.7379 0.73 0.84 0.68 0.77 0.51 rs1058766 COSM3751406 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7186 0.8477 0.7910 0.7921 0.8940 0.5666 0.6682 0.7124 0.7403 0.7210 0.8395 0.7909 0.8027 0.9016 0.5598 0.6688 0.6546 het 252.58 21 1 8418650 . T C 252.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.532;DP=21;Dels=0.00;FS=4.269;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.608;QD=12.03;ReadPosRankSum=0.988;VQSLOD=5.3832;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,10:21:99:283,0,351 1 9009406 9009406 C T exonic CA6 nonsynonymous SNV CA6:NM_001215:exon2:c.C164T:p.T55M,CA6:NM_001270500:exon2:c.C164T:p.T55M 0.27 0.081 0.38 0.24 0.42 0.33 0.3544 0.1368 0.3180 0.2471 0.4672 0.4141 0.3708 0.2854 0.32 0.14 0.41 0.21 0.39 rs2274327 COSM4144237;COSM4144236 1(thyroid) . . . . . . . . . . . 0.101 0.496 T 0.987 0.600 D 0.715 0.528 P 0.734 0.098 N 1 0.090 P 1.335 0.334 L -0.32 0.682 T -0.27 0.291 N 0.069 0.426 -1.028 0.210 T 0.000 0.000 T . . . 3.011 0.422 22.3 0.991 0.530 0.033 0.083 N c -1.054 -1.300 0.990 0.320 0.487 0.133 0 -7.73 0.011 -0.241 0.089 -1.310 0.013 0.000 0.063 0.001 0.043 12.547 0.554 Alpha carbonic anhydrase . . 0.3583 0.1278 0.3189 0.5068 0.2462 0.4649 0.4041 0.4001 0.2799 0.3213 0.1341 0.3529 0.5563 0.2600 0.4593 0.3935 0.3932 het 684.62 62 1 9009406 . C T 684.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.852;DP=62;Dels=0.00;FS=5.329;HRun=0;HaplotypeScore=0.0000;MQ=58.64;MQ0=0;MQRankSum=1.150;QD=11.04;ReadPosRankSum=0.951;VQSLOD=4.9975;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,27:62:99:715,0,994 1 9009444 9009444 A C exonic CA6 nonsynonymous SNV CA6:NM_001215:exon2:c.A202C:p.M68L,CA6:NM_001270500:exon2:c.A202C:p.M68L 0.5 0.56 0.47 0.41 0.54 0.5 0.4908 0.5392 0.3747 0.4284 0.5486 0.5145 0.4922 0.4548 0.53 0.55 0.52 0.47 0.57 rs2274328 COSM1599878;COSM1599877 1(haematopoietic_and_lymphoid_tissue);2(liver);1(thyroid);1(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.588 P -2.295 0.001 N 0.07 0.617 T 0.77 0.020 N 0.093 0.092 -0.928 0.444 T 0.000 0.000 T . . . -1.161 0.026 0.008 0.303 0.016 0.002 0.010 N c -1.321 -1.198 0.325 0.194 0.487 0.133 0 2.4 0.284 0.643 0.243 -0.305 0.080 0.416 0.261 0.002 0.062 4.599 0.117 Alpha carbonic anhydrase . . 0.4892 0.5381 0.3807 0.6239 0.4265 0.5470 0.5102 0.5090 0.4529 0.5087 0.5392 0.4305 0.7053 0.4134 0.5347 0.4965 0.4929 het 879.15 73 1 9009444 . A C 879.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.741;DP=73;Dels=0.00;FS=0.951;HRun=0;HaplotypeScore=4.3123;MQ=59.37;MQ0=0;MQRankSum=0.116;QD=12.04;ReadPosRankSum=-0.249;VQSLOD=6.1297;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:40,33:73:99:909,0,1101 1 9079365 9079365 G A exonic SLC2A7 synonymous SNV SLC2A7:NM_207420:exon4:c.C339T:p.I113I 0.085 0.1 0.06 0.19 0.004 0.056 0.0355 0.0910 0.0622 0.1824 0.0208 0.0039 0.0334 0.0381 0.032 0.085 0.0044 0.087 . rs10864379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0363 0.0888 0.0625 0.0035 0.1856 0.0204 0.0039 0.0299 0.0386 0.0417 0.0898 0.0489 0.0033 0.1807 0.0206 0.0053 0.0244 het 802.58 59 1 9079365 . G A 802.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.189;DP=59;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9987;MQ=59.22;MQ0=0;MQRankSum=-1.253;QD=13.60;ReadPosRankSum=-0.375;VQSLOD=6.1784;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,29:59:99:833,0,765 1 9304979 9304986 CCCAGGCA - exonic H6PD nonframeshift deletion H6PD:NM_001282587:exon2:c.24_26del:p.W8_H9delinsC 0.11 0.011 0.23 0.072 0.15 0.15 0.1526 0.0293 0.3293 0.0847 0.1725 0.1478 0.1498 0.1555 0.098 0.029 0.13 . . rs139855605 COSN518150 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1594 0.0247 0.3248 0.1343 0.0869 0.1703 0.1423 0.1466 0.1532 0.1198 0.0282 0.2993 0.1325 0.0666 0.1682 0.1548 0.1605 het 1074.52 95 1 9304978 . CCCCAGGCA C 1074.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.133;DP=95;FS=0.000;HRun=0;HaplotypeScore=663.9329;MQ=53.72;MQ0=0;MQRankSum=-5.411;QD=11.19;ReadPosRankSum=-0.750;set=variant2 GT:AD:DP:GQ:PL 0/1:79,17:95:99:1114,0,8158 1 9324571 9324571 T C exonic H6PD synonymous SNV H6PD:NM_001282587:exon5:c.T2052C:p.Y684Y,H6PD:NM_004285:exon5:c.T2019C:p.Y673Y 0.4 0.5 0.42 0.17 0.41 0.5 0.4157 0.4853 0.5444 0.1495 0.3444 0.4022 0.4022 0.5032 0.43 0.49 0.4 0.43 0.36 rs9434742 COSM426841 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4124 0.4848 0.5268 0.4239 0.1535 0.3376 0.3979 0.4019 0.5011 0.4092 0.4845 0.4713 0.4 0.1506 0.3406 0.4051 0.4252 het 1345.74 109 1 9324571 . T C 1345.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.578;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8815;MQ=58.89;MQ0=0;MQRankSum=1.598;QD=12.35;ReadPosRankSum=1.154;VQSLOD=5.8438;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,50:109:99:1376,0,1636 1 9324670 9324670 A G exonic H6PD synonymous SNV H6PD:NM_001282587:exon5:c.A2151G:p.S717S,H6PD:NM_004285:exon5:c.A2118G:p.S706S 0.4 0.51 0.43 0.15 0.4 0.49 0.4093 0.4942 0.5433 0.1347 0.3456 0.3926 0.4 0.4979 0.42 0.49 0.39 0.46 0.28 rs9434743 COSM3751457 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4070 0.4949 0.5269 0.4069 0.1391 0.3373 0.3900 0.3941 0.4966 0.4060 0.4930 0.4797 0.3907 0.1324 0.3390 0.3965 0.4105 het 1194.58 108 1 9324670 . A G 1194.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.341;DP=108;Dels=0.00;FS=18.546;HRun=0;HaplotypeScore=2.2566;MQ=58.75;MQ0=0;MQRankSum=0.526;QD=11.06;ReadPosRankSum=-0.162;VQSLOD=2.7642;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,47:108:99:1225,0,1618 1 9416346 9416346 C T exonic SPSB1 synonymous SNV SPSB1:NM_025106:exon2:c.C396T:p.L132L 0.2 0.065 0.18 0.28 0.32 0.18 0.2535 0.0921 0.1220 0.2989 0.3248 0.3016 0.2746 0.1993 0.23 0.097 0.3 0.23 0.36 rs3795309 COSM3747118 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2519 0.0870 0.1345 0.2272 0.2937 0.3156 0.3074 0.2537 0.1987 0.2367 0.0913 0.1667 0.2285 0.2571 0.3091 0.3035 0.2797 het 1174.32 81 1 9416346 . C T 1174.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.400;DP=81;Dels=0.00;FS=0.859;HRun=1;HaplotypeScore=1.8295;MQ=59.14;MQ0=0;MQRankSum=0.506;QD=14.50;ReadPosRankSum=1.432;VQSLOD=5.6617;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,39:81:99:1204,0,1134 1 9811541 9811541 A G exonic CLSTN1 synonymous SNV CLSTN1:NM_014944:exon4:c.T609C:p.V203V,CLSTN1:NM_001009566:exon5:c.T639C:p.V213V,CLSTN1:NM_001302883:exon5:c.T639C:p.V213V 0.31 0.61 0.22 0.19 0.077 0.33 0.1771 0.5353 0.2567 0.1770 0.0992 0.0854 0.1645 0.2984 0.23 0.52 0.084 0.45 0.057 rs11674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1692 0.5468 0.2376 0.0669 0.1718 0.1024 0.0849 0.1400 0.2975 0.2217 0.5455 0.2045 0.0695 0.1735 0.0939 0.0789 0.1332 het 1488.48 101 1 9811541 . A G 1488.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.651;DP=101;Dels=0.00;FS=2.986;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=1.324;QD=14.74;ReadPosRankSum=-0.709;VQSLOD=6.1443;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,60:101:99:1518,0,1142 1 10421878 10421878 A G exonic KIF1B synonymous SNV KIF1B:NM_015074:exon38:c.A4161G:p.P1387P 0.08 0.0045 0.092 0.013 0.12 0.2 0.1128 0.0222 0.0561 0.0052 0.1102 0.1292 0.1093 0.2003 0.09 0.021 0.13 0.043 0.074 rs12125492 COSM3747465 1(liver) other|Likely benign|Likely benign|Likely benign not_specified|Neuroblastoma|Charcot-Marie-Tooth\x2c_Type_2|Pheochromocytoma RCV000117407.3|RCV000311387.1|RCV000336025.1|RCV000404134.1 MedGen|MeSH:MedGen:OMIM|MedGen|MedGen:OMIM CN169374|D009447:C0027819:256700|CN239171|C0031511:171300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1120 0.0208 0.0575 0.1950 0.0041 0.1144 0.1263 0.1119 0.1976 0.0854 0.0218 0.0680 0.1623 0.0031 0.1042 0.1237 0.1255 het 2217.43 209 1 10421878 . A G 2217.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.757;DP=209;Dels=0.00;FS=0.528;HRun=1;HaplotypeScore=1.7046;MQ=59.60;MQ0=0;MQRankSum=-0.302;QD=10.61;ReadPosRankSum=-0.067;VQSLOD=6.7002;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:120,88:209:99:2247,0,3345 1 10511544 10511544 C T exonic CENPS-CORT;CORT synonymous SNV CORT:NM_001302:exon2:c.C210T:p.A70A,CENPS-CORT:NM_001243768:exon4:c.C324T:p.A108A,CENPS-CORT:NM_198544:exon5:c.C387T:p.A129A 0.29 0.021 0.31 0.49 0.39 0.32 0.3679 0.0723 0.3283 0.4906 0.3945 0.4097 0.4241 0.3250 0.29 0.08 0.4 0.2 0.27 rs628462 COSM1332195;COSM1332194 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3692 0.0619 0.3400 0.4005 0.4896 0.3975 0.4032 0.4054 0.3284 0.3111 0.0708 0.3756 0.3967 0.4771 0.3938 0.4048 0.3706 het 324.70 25 1 10511544 . C T 324.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.548;DP=25;Dels=0.00;FS=6.701;HRun=0;HaplotypeScore=0.9916;MQ=60.00;MQ0=0;MQRankSum=-0.837;QD=12.99;ReadPosRankSum=-0.144;VQSLOD=4.8090;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:355,0,355 1 10511589 10511589 T C exonic CENPS-CORT;CORT synonymous SNV CORT:NM_001302:exon2:c.T255C:p.S85S,CENPS-CORT:NM_001243768:exon4:c.T369C:p.S123S,CENPS-CORT:NM_198544:exon5:c.T432C:p.S144S 0.87 0.88 0.82 0.86 0.93 0.83 0.8965 0.8969 0.7740 0.8237 0.8631 0.9404 0.9087 0.8556 0.93 0.91 0.94 0.83 0.81 rs666103 COSM146398;COSM146397 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8922 0.8937 0.7932 0.9892 0.8251 0.8679 0.9390 0.9011 0.8561 0.9116 0.8981 0.8496 0.9834 0.8393 0.8645 0.9408 0.9018 hom 599.59 22 1 10511589 . T C 599.59 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=27.25;VQSLOD=8.4574;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:54.13:633,54,0 1 10596341 10596341 C T exonic PEX14 synonymous SNV PEX14:NM_004565:exon3:c.C156T:p.F52F 0.23 0.066 0.43 0.2 0.31 0.25 0.2843 0.1040 0.4313 0.2069 0.3381 0.3052 0.2577 0.2303 0.25 0.11 0.32 0.17 0.39 rs12375 COSM3750201 1(large_intestine) Benign|Benign not_specified|Zellweger_syndrome RCV000253456.1|RCV000408124.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0043459:214100:ORPHA912:88469006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2951 0.0992 0.4109 0.2756 0.2106 0.3299 0.3132 0.2915 0.2296 0.2537 0.0992 0.3624 0.2550 0.2005 0.3353 0.3220 0.2906 het 862.89 65 1 10596341 . C T 862.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.121;DP=65;Dels=0.00;FS=9.134;HRun=2;HaplotypeScore=1.9311;MQ=59.14;MQ0=0;MQRankSum=0.427;QD=13.28;ReadPosRankSum=-1.320;VQSLOD=4.7518;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,34:65:99:893,0,811 1 11087524 11087524 G A exonic MASP2 synonymous SNV MASP2:NM_006610:exon11:c.C1479T:p.S493S 0.69 0.3 0.8 0.87 0.84 0.8 0.7855 0.3490 0.8305 0.8675 0.8269 0.8289 0.8084 0.7929 0.67 0.36 0.83 0.56 0.84 rs1782455 COSM527457 1(pancreas) Benign|Benign|Benign|Benign Amyotrophic_Lateral_Sclerosis\x2c_Dominant|MASP2_deficiency|Frontotemporal_dementia|not_specified RCV000262387.1|RCV000294328.1|RCV000357134.1|RCV000455702.1 MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN239175|C3151085:613791:ORPHA331187|C0338451:600274:ORPHA282:230270009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7941 0.3379 0.8241 0.7317 0.8664 0.8306 0.8344 0.8007 0.7934 0.6937 0.3467 0.8198 0.6854 0.8818 0.8277 0.8310 0.7821 hom 7432.36 230 1 11087524 . G A 7432.36 Mask AC=2;AF=1.00;AN=2;DP=230;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5993;MQ=59.23;MQ0=0;QD=32.31;VQSLOD=8.1073;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7431,581,0 1 11090916 11090916 C A exonic MASP2 nonsynonymous SNV MASP2:NM_006610:exon9:c.G1111T:p.D371Y 0.58 0.17 0.75 0.67 0.82 0.68 0.7359 0.2507 0.8123 0.6551 0.8172 0.8092 0.7616 0.7001 0.63 0.27 0.81 0.42 0.78 rs12711521 COSM3996739 1(haematopoietic_and_lymphoid_tissue) Benign|Benign MASP2_deficiency|not_specified RCV000396976.1|RCV000454761.1 MedGen:OMIM:Orphanet|MedGen C3151085:613791:ORPHA331187|CN169374 . . . . . . 0.057 0.379 T 0.748 0.413 P 0.566 0.479 P 0.005 0.336 N 0.060 0.373 P 2.855 0.832 M -0.28 0.676 T -2.85 0.600 D 0.296 0.356 -1.010 0.270 T 0.000 0.000 T . . . 2.949 0.415 22.1 0.991 0.530 0.454 0.273 N c -0.107 -0.279 1.000 0.517 0.498 0.195 0 3.5 0.390 0.882 0.276 0.071 0.179 0.019 0.194 0.048 0.163 10.583 0.443 Sushi/SCR/CCP domain ENSG00000271895.1|ENSG00000171824.9|ENSG00000226849.1|ENSG00000171824.9|ENSG00000009724.12|ENSG00000271895.1|ENSG00000271895.1|ENSG00000171824.9 Adipose_Subcutaneous|Brain_Cerebellum|Brain_Cortex|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7464 0.2350 0.8028 0.6923 0.6559 0.8200 0.8157 0.7630 0.7001 0.6413 0.2450 0.7914 0.6533 0.6636 0.8153 0.8128 0.7505 hom 2919 104 1 11090916 . C A 2919 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.266;DP=104;Dels=0.00;FS=3.054;HRun=1;HaplotypeScore=4.5539;MQ=59.64;MQ0=0;MQRankSum=1.699;QD=28.07;ReadPosRankSum=-0.666;VQSLOD=3.8605;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,103:104:99:2952,199,0 1 11106666 11106666 T C exonic MASP2 nonsynonymous SNV MASP2:NM_006610:exon3:c.A359G:p.D120G,MASP2:NM_139208:exon3:c.A359G:p.D120G 0.012 0.0008 0.023 . 0.039 0.0041 0.0225 0.0050 0.0088 0 0.0479 0.0326 0.0204 0.0041 0.021 0.0059 0.029 0.022 0.033 rs72550870 COSM1320150 1(ovary) other|Benign MASP2_deficiency|not_specified RCV000005520.4|RCV000239142.1 MedGen:OMIM:Orphanet|MedGen C3151085:613791:ORPHA331187|CN169374 . . . . . . 0.0 0.912 D 0.996 0.670 D 0.954 0.710 D 0.000 0.629 D 1 0.810 A 3.615 0.940 H 1.1 0.390 T -6.57 0.936 D 0.97 0.970 -0.375 0.728 T 0.104 0.382 T . . . 5.811 0.795 27.2 0.998 0.923 0.974 0.742 D c 0.798 0.713 1.000 0.747 0.554 0.283 0 4.77 0.603 7.729 0.837 1.061 0.807 1.000 0.715 0.990 0.544 13.272 0.594 CUB domain . . 0.0216 0.0043 0.0102 0.0033 0 0.0473 0.0323 0.0173 0.0040 0.0252 0.0054 0.0084 0.0033 0 0.0461 0.0355 0.0337 het 843.17 81 1 11106666 . T C 843.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.011;DP=81;Dels=0.00;FS=0.861;HRun=1;HaplotypeScore=1.6439;MQ=59.72;MQ0=0;MQRankSum=0.462;QD=10.41;ReadPosRankSum=-0.532;VQSLOD=5.9209;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,33:81:99:873,0,1204 1 11119899 11119899 T C exonic SRM synonymous SNV SRM:NM_003132:exon1:c.A102G:p.S34S 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.36 0.61 rs7545802 COSM4142128 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 417.44 17 1 11119899 . T C 417.44 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.39;MQ0=0;QD=24.56;VQSLOD=6.7419;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:39.10:450,39,0 1 11132217 11132217 G A exonic EXOSC10 synonymous SNV EXOSC10:NM_002685:exon19:c.C2094T:p.R698R,EXOSC10:NM_001001998:exon20:c.C2169T:p.R723R 0.61 0.2 0.76 0.78 0.74 0.72 0.7022 0.2696 0.8060 0.7950 0.7227 0.7326 0.7081 0.7220 0.59 0.29 0.74 0.53 0.7 rs1130683 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7108 0.2533 0.7993 0.5819 0.7885 0.7204 0.7420 0.7036 0.7217 0.6023 0.2664 0.7799 0.5497 0.7887 0.7101 0.7384 0.6830 hom 4086.71 137 1 11132217 . G A 4086.71 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=29.83;VQSLOD=9.2324;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4086,331,0 1 11141187 11141187 C G exonic EXOSC10 synonymous SNV EXOSC10:NM_001001998:exon11:c.G1389C:p.P463P,EXOSC10:NM_002685:exon11:c.G1389C:p.P463P 0.77 0.54 0.84 0.94 0.77 0.87 0.7790 0.5476 0.8896 0.9412 0.7737 0.7617 0.7892 0.8338 0.69 0.56 0.76 0.76 0.76 rs2258621 COSM4142130;COSM4142129 1(skin);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7844 0.5371 0.8822 0.6479 0.9384 0.7750 0.7663 0.7717 0.8330 0.7153 0.5512 0.8652 0.6159 0.9400 0.7726 0.7640 0.7541 hom 2548.96 87 1 11141187 . C G 2548.96 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=59.25;MQ0=0;QD=29.30;VQSLOD=7.3208;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2582,226,0 1 11205058 11205058 C T exonic MTOR synonymous SNV MTOR:NM_004958:exon33:c.G4731A:p.A1577A 0.55 0.064 0.7 0.82 0.74 0.62 0.6779 0.1588 0.7357 0.8203 0.7245 0.7321 0.7004 0.6512 0.55 0.18 0.73 0.46 0.69 rs1057079 COSM4142146 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6868 0.1410 0.7281 0.5828 0.8135 0.7214 0.7409 0.6849 0.6543 0.5689 0.1535 0.7124 0.5530 0.8004 0.7093 0.7379 0.6735 hom 6691.67 237 1 11205058 . C T 6691.67 Mask AC=2;AF=1.00;AN=2;DP=237;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=28.23;VQSLOD=8.3208;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,237:237:99:6691,503,0 1 11288758 11288758 G A exonic MTOR synonymous SNV MTOR:NM_004958:exon19:c.C2997T:p.N999N 0.7 0.34 0.81 0.92 0.72 0.86 0.7429 0.3842 0.8724 0.9192 0.7455 0.7316 0.7731 0.8284 0.62 0.4 0.73 0.65 0.7 rs1064261 COSM4142152 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7517 0.3697 0.8633 0.6567 0.9183 0.7462 0.7336 0.7446 0.8278 0.6449 0.3858 0.8365 0.6126 0.9283 0.7467 0.7263 0.7157 hom 2823.14 87 1 11288758 . G A 2823.14 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=32.45;VQSLOD=9.1889;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2856,232,0 1 11301714 11301714 A G exonic MTOR synonymous SNV MTOR:NM_004958:exon10:c.T1437C:p.D479D 0.64 0.22 0.76 0.88 0.72 0.78 0.7170 0.2905 0.8029 0.8811 0.7454 0.7313 0.7577 0.7681 0.59 0.31 0.73 0.59 0.57 rs1135172 COSM4142157 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7257 0.2740 0.7938 0.6566 0.8782 0.7473 0.7333 0.7251 0.7700 0.6129 0.2871 0.7751 0.6126 0.8837 0.7487 0.7263 0.7070 hom 7327.47 246 1 11301714 . A G 7327.47 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9392;MQ=59.20;MQ0=0;QD=29.79;VQSLOD=4.5779;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7326,602,0 1 11561593 11561593 G A exonic DISP3 nonsynonymous SNV DISP3:NM_020780:exon2:c.G544A:p.G182S 0.37 0.14 0.63 0.27 0.66 0.3 0.5561 0.2300 0.6722 0.2823 0.6473 0.6451 0.6008 0.3745 0.51 0.25 0.63 0.34 0.43 rs2817580 COSM3750253;COSM3750254 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.008 0.135 B 0.011 0.145 B . . . 1 0.090 P 0 0.065 N 1.99 0.217 T -0.31 0.121 N 0.063 0.048 -0.987 0.334 T 0.000 0.000 T . . . -1.561 0.015 0.002 0.962 0.284 0.076 0.134 N c -1.167 -1.206 0.037 0.143 0.495 0.175 0 0.794 0.177 0.571 0.232 0.784 0.316 0.002 0.151 0.002 0.062 6.431 0.209 . . . 0.5487 0.2079 0.6644 0.5536 0.2801 0.6370 0.6366 0.5932 0.3567 0.4976 0.2128 0.6790 0.5497 0.2859 0.6190 0.6426 0.5645 het 290.56 28 1 11561593 . G A 290.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.952;DP=28;Dels=0.00;FS=3.674;HRun=0;HaplotypeScore=0.7887;MQ=58.33;MQ0=0;MQRankSum=0.073;QD=10.38;ReadPosRankSum=1.391;VQSLOD=4.9796;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,12:28:99:321,0,455 1 11771988 11771988 A G exonic DRAXIN synonymous SNV DRAXIN:NM_198545:exon4:c.A723G:p.L241L 0.097 0.094 0.082 0.066 0.13 0.11 0.1301 0.1037 0.0970 0.0492 0.1620 0.1469 0.1179 0.1335 0.12 0.096 0.13 0.098 0.13 rs17037327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1202 0.0915 0.0899 0.1107 0.0520 0.1455 0.1381 0.1196 0.1259 0.1163 0.0913 0.0993 0.1060 0.0494 0.1453 0.1304 0.1466 het 773.04 61 1 11771988 . A G 773.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.791;DP=61;Dels=0.00;FS=2.178;HRun=0;HaplotypeScore=2.7769;MQ=59.62;MQ0=0;MQRankSum=-0.036;QD=12.67;ReadPosRankSum=-0.137;VQSLOD=6.3076;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,32:61:99:803,0,699 1 11854457 11854457 G A exonic MTHFR synonymous SNV MTHFR:NM_001330358:exon8:c.C1428T:p.F476F,MTHFR:NM_005957:exon8:c.C1305T:p.F435F 0.9 0.66 0.97 1. 1. 1. 0.9697 0.6834 0.9845 0.9990 1 0.9974 0.9845 0.9992 0.89 0.68 1. 0.85 1. rs4846051 . . Benign|Benign not_specified|Neural_tube_defects\x2c_folate-sensitive RCV000153514.4|RCV000293357.1 MedGen|MedGen:OMIM CN169374|C1866558:601634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9755 0.6770 0.9820 0.9850 0.9992 1 0.9984 0.9803 0.9992 0.9091 0.6825 0.9809 0.9768 0.9988 1 0.9992 0.9867 hom 5799.26 194 1 11854457 . G A 5799.26 Mask AC=2;AF=1.00;AN=2;DP=194;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5769;MQ=58.91;MQ0=0;QD=29.89;VQSLOD=8.9623;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:194:99:5799,442,0 1 11856378 11856378 G A exonic MTHFR nonsynonymous SNV MTHFR:NM_001330358:exon5:c.C788T:p.A263V,MTHFR:NM_005957:exon5:c.C665T:p.A222V 0.25 0.09 0.47 0.3 0.36 0.12 0.3037 0.1124 0.5141 0.3052 0.2227 0.3450 0.3062 0.1409 0.27 0.12 0.35 0.16 0.35 rs1801133 COSM146404;COSM3927609 1(stomach);3(haematopoietic_and_lymphoid_tissue);24(soft_tissue);1(prostate) other|Uncertain significance|other|drug response|drug response|Likely benign|drug response|not provided|Benign MTHFR_deficiency\x2c_thermolabile_type|Gastrointestinal_stromal_tumor|not_provided|cyclophosphamide_response_-_Toxicity/ADR|carboplatin_response_-_Efficacy|Neural_tube_defects\x2c_folate-sensitive|methotrexate_response_-_Dosage\x2c_Efficacy\x2c_Toxicity/ADR|Neoplasm_of_stomach|not_specified RCV000003697.6|RCV000144921.1|RCV000153516.4|RCV000211133.1|RCV000211336.1|RCV000259890.1|RCV000417131.1|RCV000427078.1|RCV000428048.1 MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen|MedGen:OMIM|MedGen|MeSH:MedGen:OMIM:SNOMED_CT|MedGen C1856059|D046152:C0238198:606764:ORPHA44890|CN221809|CN236519|CN236495|C1866558:601634|CN240598|D013274:C0038356:613659:126824007|CN169374 Homocysteine levels . .05 20031578 rs1801133 8E-35 0.002 0.721 D 0.998 0.764 D 0.941 0.759 D 0.000 0.843 D 0.000 0.588 P 2.965 0.855 M -4.03 0.964 D -3.76 0.712 D 0.955 0.952 -1.455 0.000 T 0.000 0.000 T . . . 4.914 0.660 25.0 0.999 0.995 0.980 0.783 D c 0.739 0.658 1.0 0.983 0.722 0.854 0 5.08 0.682 9.137 0.937 1.048 0.713 1.000 0.715 0.530 0.276 17.432 0.874 FAD-linked oxidoreductase-like ENSG00000242349.1 Nerve_Tibial 0.3143 0.1055 0.5031 0.4572 0.2937 0.2300 0.3397 0.3254 0.1444 0.2572 0.1131 0.4845 0.4470 0.2866 0.2351 0.3265 0.2633 het 2598.71 239 1 11856378 . G A 2598.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.571;DP=239;DS;Dels=0.00;FS=2.975;HRun=0;HaplotypeScore=7.9562;MQ=59.34;MQ0=0;MQRankSum=1.340;QD=10.87;ReadPosRankSum=0.229;VQSLOD=4.5684;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,101:239:99:2629,0,3877 1 11884555 11884555 A G exonic CLCN6 nonsynonymous SNV CLCN6:NM_001256959:exon7:c.A527G:p.E176G,CLCN6:NM_001286:exon8:c.A593G:p.E198G 1. 1. 1. 1. 1. 1. 0.9994 0.9997 0.9996 1 1 0.9990 0.9989 1 1. 1. 1. 1. 0.79 rs198400 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.013 B 0.000 0.843 N 0.883 0.280 P -3.9 0.000 N 0.63 0.531 T 7.57 0.000 N 0.335 0.436 -0.910 0.469 T 0.000 0.000 T . . . 1.519 0.245 13.41 0.740 0.102 0.207 0.209 N c -0.991 -0.593 1.000 0.747 0.461 0.090 0 5.79 0.917 7.784 0.842 0.138 0.222 1.000 0.715 0.988 0.529 14.207 0.651 Chloride channel\x2c core . . 0.9994 0.9997 0.9997 1 1 1 0.9989 0.9996 0.9999 0.9997 0.9999 0.9988 1 1 1 0.9995 0.9990 hom 3851.55 124 1 11884555 . A G 3851.55 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4734;MQ=58.46;MQ0=0;QD=31.06;VQSLOD=7.8971;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3851,295,0 1 12024235 12024235 C T exonic PLOD1 synonymous SNV PLOD1:NM_000302:exon12:c.C1206T:p.N402N,PLOD1:NM_001316320:exon13:c.C1347T:p.N449N 0.35 0.27 0.35 0.38 0.32 0.45 0.3631 0.2908 0.3748 0.3933 0.5194 0.3325 0.3987 0.4434 0.31 0.29 0.32 0.37 0.2 rs1130529 COSM3996784;COSM3996785 2(haematopoietic_and_lymphoid_tissue);2(thyroid) Benign|Benign not_specified|Ehlers-Danlos_syndrome\x2c_hydroxylysine-deficient RCV000252620.3|RCV000350343.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268342:225400:ORPHA1900:25606004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3624 0.2925 0.3687 0.2219 0.3874 0.5038 0.3279 0.3640 0.4443 0.3530 0.2900 0.3636 0.2351 0.3990 0.5020 0.3484 0.4018 het 3151.38 244 1 12024235 . C T 3151.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.043;DP=244;DS;Dels=0.00;FS=6.254;HRun=0;HaplotypeScore=4.2434;MQ=59.28;MQ0=0;MQRankSum=0.826;QD=12.92;ReadPosRankSum=-0.892;VQSLOD=4.6730;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,119:244:99:3181,0,3074 1 12082926 12082926 A G exonic MIIP nonsynonymous SNV MIIP:NM_021933:exon4:c.A499G:p.K167E 0.67 0.8 0.6 0.55 0.73 0.61 0.7058 0.7973 0.5936 0.5744 0.8337 0.7297 0.7094 0.6438 0.74 0.79 0.71 0.67 0.58 rs2295283 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.201 0.166 N 1 0.090 P -1.545 0.005 N 2.68 0.124 T 1.84 0.005 N 0.016 0.003 -1.010 0.268 T 0.000 0.000 T . . . -0.850 0.038 0.033 0.725 0.097 0.006 0.028 N c -1.499 -1.351 1.000 0.517 0.707 0.730 0 1.47 0.217 2.408 0.440 0.038 0.153 0.682 0.282 0.019 0.132 5.711 0.171 . ENSG00000116688.12|ENSG00000116688.12|ENSG00000116688.12|ENSG00000083444.12|ENSG00000116688.12|ENSG00000116691.6 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Whole_Blood|Whole_Blood|Whole_Blood 0.6826 0.7910 0.5676 0.6075 0.5499 0.8228 0.7173 0.6921 0.6279 0.7440 0.7845 0.6098 0.5993 0.5762 0.8246 0.7310 0.7320 het 800.59 44 1 12082926 . A G 800.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.096;DP=44;Dels=0.00;FS=1.306;HRun=0;HaplotypeScore=3.8277;MQ=59.48;MQ0=0;MQRankSum=-0.920;QD=18.20;ReadPosRankSum=0.391;VQSLOD=5.3199;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,30:44:99:831,0,345 1 12164437 12164437 C T exonic TNFRSF8 synonymous SNV TNFRSF8:NM_001243:exon4:c.C270T:p.D90D 0.29 0.21 0.38 0.33 0.23 0.37 0.2802 0.2045 0.4358 0.3293 0.2580 0.2353 0.2881 0.3833 0.23 0.22 0.24 0.28 0.31 rs2230622 COSM4142271 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2876 0.2039 0.4144 0.3002 0.3346 0.2566 0.2332 0.2743 0.3823 0.2394 0.1967 0.3616 0.2881 0.3420 0.2524 0.2403 0.2706 het 1698.63 146 1 12164437 . C T 1698.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.825;DP=146;Dels=0.00;FS=6.188;HRun=0;HaplotypeScore=3.3274;MQ=58.90;MQ0=0;MQRankSum=0.216;QD=11.63;ReadPosRankSum=-0.924;VQSLOD=5.1206;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,70:146:99:1729,0,1857 1 12175729 12175729 C T exonic TNFRSF8 nonsynonymous SNV TNFRSF8:NM_001281430:exon7:c.C556T:p.R186C,TNFRSF8:NM_001243:exon8:c.C889T:p.R297C 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 0.9999 1 1 . . . 1. 1. rs1763642 COSM4142272 1(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 0.9999 1 1 1 1 1 1 1 1 1 1 hom 5170.96 153 1 12175729 . C T 5170.96 Mask AC=2;AF=1.00;AN=2;DP=153;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8725;MQ=59.55;MQ0=0;QD=33.80;VQSLOD=8.2705;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:5170,418,0 1 12248942 12248942 A G exonic TNFRSF1B synonymous SNV TNFRSF1B:NM_001066:exon2:c.A168G:p.K56K 0.2 0.2 0.13 0.15 0.21 0.27 0.2248 0.2171 0.1198 0.1608 0.2043 0.2454 0.2283 0.2622 0.24 0.22 0.24 0.16 0.17 rs945439 COSM3747514 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2157 0.2183 0.1193 0.2688 0.1564 0.1983 0.2390 0.2171 0.2633 0.2184 0.2139 0.1587 0.2947 0.1646 0.2038 0.2321 0.2194 het 668.69 70 1 12248942 . A G 668.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.256;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;MQRankSum=-0.977;QD=9.55;ReadPosRankSum=0.290;VQSLOD=6.2140;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,27:70:99:699,0,1138 1 12252955 12252955 T G exonic TNFRSF1B nonsynonymous SNV TNFRSF1B:NM_001066:exon6:c.T587G:p.M196R 0.19 0.19 0.13 0.15 0.22 0.28 0.2249 0.2049 0.1171 0.1575 0.2408 0.2447 0.2337 0.2613 0.23 0.21 0.24 0.16 0.21 rs1061622 COSM146406 1(stomach);1(liver) . . . . . . . . . . . 0.255 0.168 T 0.0 0.026 B 0.001 0.040 B 0.217 0.034 N 1 0.090 P 0.3 0.102 N 0.18 0.604 T -0.4 0.138 N 0.068 0.055 -1.075 0.084 T 0.000 0.000 T . . . 0.369 0.130 6.341 0.836 0.143 0.038 0.091 N c -1.150 -1.183 1.000 0.439 0.707 0.730 0 -4.13 0.036 -1.605 0.022 -0.265 0.087 0.000 0.063 0.971 0.463 7.083 0.243 TNFR/NGFR cysteine-rich region . . 0.2167 0.2080 0.1188 0.2692 0.1547 0.2260 0.2379 0.2201 0.2624 0.2194 0.2036 0.1527 0.2947 0.1611 0.2336 0.2333 0.2279 het 804.82 67 1 12252955 . T G 804.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.089;DP=67;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9779;MQ=58.96;MQ0=0;MQRankSum=0.985;QD=12.01;ReadPosRankSum=-1.307;VQSLOD=6.3332;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,31:67:99:835,0,984 1 12336147 12336147 T C exonic VPS13D synonymous SNV VPS13D:NM_015378:exon19:c.T2502C:p.N834N,VPS13D:NM_018156:exon19:c.T2502C:p.N834N 0.027 0.08 0.014 . 0.0099 0.0082 0.0189 0.0769 0.0089 0 0.0209 0.0170 0.0110 0.0064 0.04 0.079 0.019 0.043 0.0082 rs7546794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0178 0.0771 0.0096 0.0431 0 0.0170 0.0160 0.0175 0.0061 0.0340 0.0802 0.0072 0.0530 0 0.0215 0.0162 0.0143 het 1068.88 77 1 12336147 . T C 1068.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.775;DP=77;Dels=0.00;FS=7.921;HRun=0;HaplotypeScore=2.8729;MQ=60.00;MQ0=0;MQRankSum=-2.338;QD=13.88;ReadPosRankSum=0.572;VQSLOD=3.3319;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,39:77:99:1099,0,1014 1 12389953 12389953 T C exonic VPS13D synonymous SNV VPS13D:NM_015378:exon37:c.T8265C:p.D2755D,VPS13D:NM_018156:exon37:c.T8265C:p.D2755D 0.022 0.063 0.014 . 0.0099 0.0082 0.0176 0.0643 0.0080 0.0001 0.0209 0.0168 0.0088 0.0064 0.035 0.065 0.019 0.022 0.0082 rs79566132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0166 0.0625 0.0083 0.0427 0 0.0170 0.0159 0.0162 0.0061 0.0287 0.0617 0.0072 0.0530 0 0.0215 0.0159 0.0153 het 998.86 78 1 12389953 . T C 998.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.877;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.74;MQ0=0;MQRankSum=0.490;QD=12.81;ReadPosRankSum=2.478;VQSLOD=5.1524;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,39:78:99:1029,0,962 1 12401868 12401868 A C exonic VPS13D synonymous SNV VPS13D:NM_018156:exon40:c.A8583C:p.P2861P,VPS13D:NM_015378:exon41:c.A8658C:p.P2886P 0.8 0.74 0.76 0.9 0.79 0.8 0.7910 0.7549 0.6982 0.9027 0.7486 0.8004 0.7985 0.7992 0.79 0.76 0.8 0.86 0.85 rs28551666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7873 0.7495 0.7078 0.7749 0.8958 0.7599 0.8023 0.7935 0.8002 0.7863 0.7572 0.7151 0.7517 0.8861 0.7575 0.8033 0.7959 hom 5335.58 173 1 12401868 . A C 5335.58 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8633;MQ=59.10;MQ0=0;QD=30.84;VQSLOD=9.3223;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5335,406,0 1 12638964 12638964 T C exonic DHRS3 synonymous SNV DHRS3:NM_001319225:exon4:c.A225G:p.P75P,DHRS3:NM_001324370:exon4:c.A225G:p.P75P,DHRS3:NM_004753:exon4:c.A480G:p.P160P 0.8 0.8 0.73 0.73 0.85 0.9 0.8314 0.8238 0.6487 0.7254 0.8293 0.8620 0.8314 0.8962 0.85 0.83 0.86 0.77 0.74 rs2275875 COSM5438334 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8213 0.8216 0.6558 0.8430 0.7250 0.8283 0.8620 0.8247 0.8965 0.8345 0.8233 0.7033 0.8377 0.7407 0.8222 0.8612 0.8340 het 549.91 48 1 12638964 . T C 549.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.134;DP=48;Dels=0.00;FS=2.541;HRun=0;HaplotypeScore=2.7312;MQ=59.13;MQ0=0;MQRankSum=0.010;QD=11.46;ReadPosRankSum=0.362;VQSLOD=6.5575;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,22:48:99:580,0,673 1 12776344 12776344 A T exonic AADACL3 unknown UNKNOWN 0.66 0.4 0.85 0.62 0.82 0.74 0.7779 0.4753 0.8512 0.6424 0.8051 0.8290 0.7956 0.7585 0.73 0.51 0.83 0.65 0.8 rs3000859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7834 0.4677 0.8418 0.7726 0.6398 0.8118 0.8332 0.7935 0.7576 0.7158 0.4731 0.8266 0.7980 0.6132 0.8224 0.8309 0.7806 het 1576.11 145 1 12776344 . A T 1576.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.579;DP=145;Dels=0.00;FS=3.052;HRun=1;HaplotypeScore=8.4126;MQ=59.26;MQ0=0;MQRankSum=-0.398;QD=10.87;ReadPosRankSum=0.194;VQSLOD=3.7045;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,62:145:99:1606,0,2030 1 12779560 12779560 T C exonic AADACL3 unknown UNKNOWN 0.85 0.92 0.88 0.78 0.83 0.82 0.8328 0.9124 0.8897 0.7770 0.7746 0.8260 0.8333 0.8257 0.86 0.91 0.83 0.94 0.81 rs3010876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8343 0.9130 0.8891 0.8605 0.7728 0.7796 0.8271 0.8296 0.8280 0.8377 0.9116 0.8795 0.8510 0.7608 0.7837 0.8148 0.8084 hom 5433.95 160 1 12779560 . T C 5433.95 Mask AC=2;AF=1.00;AN=2;DP=160;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8606;MQ=59.62;MQ0=0;QD=33.96;VQSLOD=9.9990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:5433,427,0 1 12779618 12779618 T C exonic AADACL3 unknown UNKNOWN 0.85 0.92 0.88 0.78 0.83 0.82 0.8317 0.9100 0.8889 0.7768 0.7753 0.8244 0.8333 0.8253 0.86 0.92 0.83 0.94 0.81 rs3010877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8329 0.9102 0.8878 0.8606 0.7728 0.7799 0.8249 0.8285 0.8276 0.8355 0.9088 0.8747 0.8510 0.7623 0.7841 0.8123 0.8045 hom 4399.39 128 1 12779618 . T C 4399.39 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=34.37;VQSLOD=9.4852;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4399,343,0 1 12785494 12785494 G T exonic AADACL3 unknown UNKNOWN 0.68 0.48 0.78 0.78 0.73 0.73 0.7182 0.5227 0.8252 0.78 0.6973 0.7210 0.7133 0.7240 0.67 0.52 0.73 0.74 0.7 rs7513079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7262 0.5198 0.8206 0.7732 0.7759 0.6928 0.7223 0.7103 0.7240 0.6590 0.5124 0.8026 0.7748 0.7674 0.6984 0.7123 0.6694 hom 5416.84 166 1 12785494 . G T 5416.84 Mask AC=2;AF=1.00;AN=2;DP=166;DS;Dels=0.00;FS=0.000;HRun=7;HaplotypeScore=6.4303;MQ=59.37;MQ0=0;QD=32.63;VQSLOD=7.1851;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5416,433,0 1 12820870 12820870 T C exonic C1orf158 nonsynonymous SNV C1orf158:NM_001330361:exon3:c.T457C:p.F153L,C1orf158:NM_152290:exon4:c.T571C:p.F191L 0.82 0.92 0.85 0.78 0.79 0.76 0.7952 0.9006 0.8652 0.7792 0.7596 0.7789 0.7909 0.7681 0.82 0.89 0.79 0.91 0.72 rs1132185 COSM5424326 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7964 0.9005 0.8621 0.8192 0.7750 0.7654 0.7788 0.7816 0.7663 0.8099 0.8963 0.8413 0.8046 0.7636 0.7722 0.7747 0.7648 hom 3577.14 109 1 12820870 . T C 3577.14 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4394;MQ=59.58;MQ0=0;QD=32.82;VQSLOD=8.8097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3577,280,0 1 12835868 12835868 T C exonic PRAMEF12 nonsynonymous SNV PRAMEF12:NM_001080830:exon2:c.T470C:p.M157T 0.72 0.57 0.82 0.72 0.8 0.75 0.7739 0.6069 0.8468 0.7309 0.7790 0.7955 0.7764 0.7606 0.74 0.61 0.8 0.74 0.8 rs1812242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7806 0.6014 0.8420 0.8622 0.7282 0.7731 0.7947 0.7765 0.7612 0.7257 0.5975 0.8067 0.8433 0.7146 0.7682 0.7830 0.7464 hom 5298.88 171 1 12835868 . T C 5298.88 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.29;MQ0=0;QD=30.99;VQSLOD=9.1062;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,171:171:99:5298,433,0 1 12837634 12837634 T A exonic PRAMEF12 synonymous SNV PRAMEF12:NM_001080830:exon3:c.T1344A:p.I448I 0.66 0.37 0.81 0.72 0.8 0.76 0.7635 0.4233 0.8431 0.7331 0.7841 0.8049 0.7759 0.7620 0.68 0.43 0.81 0.63 0.81 rs848578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7798 0.4188 0.8395 0.8657 0.7372 0.7844 0.8112 0.7802 0.7729 0.6806 0.4193 0.8058 0.8523 0.7204 0.7753 0.7929 0.7361 hom 5850.40 176 1 12837634 . T A 5850.40 Mask AC=2;AF=1.00;AN=2;DP=176;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9925;MQ=59.50;MQ0=0;QD=33.24;VQSLOD=8.9422;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:176:99:5819,469,0 1 12854530 12854530 C G exonic PRAMEF1 nonsynonymous SNV PRAMEF1:NM_023013:exon3:c.C754G:p.Q252E 0.87 0.93 0.89 0.8 0.86 0.84 0.8553 0.9125 0.8941 0.7989 0.8470 0.8538 0.8642 0.8301 0.87 0.91 0.86 0.043 0.84 rs1063776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8567 0.9110 0.8900 0.9231 0.7990 0.8444 0.8518 0.8544 0.8307 0.8687 0.9118 0.8699 0.9020 0.7932 0.8445 0.8580 0.8423 hom 7697.13 245 1 12854530 . C G 7697.13 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8892;MQ=51.08;MQ0=10;QD=31.42;VQSLOD=3.1488;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,245:245:99:7695,653,0 1 13940864 13940864 C G exonic PDPN nonsynonymous SNV PDPN:NM_001006624:exon5:c.C314G:p.A105G,PDPN:NM_001006625:exon5:c.C314G:p.A105G,PDPN:NM_006474:exon5:c.C668G:p.A223G,PDPN:NM_198389:exon5:c.C668G:p.A223G 0.98 1. 0.99 1. 0.93 0.99 0.9552 0.9929 0.9891 0.9999 0.8669 0.9386 0.9482 0.9872 0.97 0.99 0.95 1. 0.95 rs2486188 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.018 0.275 N 1 0.090 P -1.935 0.002 N 2.71 0.121 T 4.97 0.001 N 0.086 0.089 -0.947 0.415 T 0.000 0.000 T . . . 1.587 0.252 13.78 0.289 0.015 0.019 0.058 N c -0.953 -0.685 0.077 0.158 0.707 0.730 0 5.93 0.959 0.775 0.262 0.136 0.221 0.977 0.347 0.043 0.159 13.370 0.600 . . . 0.9558 0.9936 0.9870 0.9684 0.9999 0.8620 0.9435 0.9513 0.9876 0.9492 0.9932 0.9880 0.9669 1 0.8626 0.9380 0.9134 het 1837.76 192 1 13940864 . C G 1837.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.789;DP=192;Dels=0.00;FS=0.548;HRun=1;HaplotypeScore=8.5136;MQ=58.87;MQ0=0;MQRankSum=-1.087;QD=9.57;ReadPosRankSum=0.805;VQSLOD=3.0545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,79:192:99:1868,0,2770 1 14109319 14109319 G A exonic PRDM2 nonsynonymous SNV PRDM2:NM_001007257:exon3:c.G4426A:p.D1476N,PRDM2:NM_012231:exon8:c.G5029A:p.D1677N,PRDM2:NM_015866:exon8:c.G5029A:p.D1677N . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.114 0.286 T 0.999 0.764 D 0.879 0.662 P 0.000 0.843 D 1.000 0.810 D 0.975 0.246 L 4.61 0.021 T -1.18 0.309 N 0.145 0.179 -0.640 0.632 T 0.013 0.052 T 0.023 0.458 T 3.503 0.479 23.1 0.997 0.829 0.988 0.864 D c 0.648 0.747 1.0 0.983 0.632 0.406 0 6.07 0.987 9.352 0.965 1.048 0.713 1.000 0.715 1.000 0.888 19.208 0.937 Zinc finger\x2c C2H2 . . . . . . . . . . . . . . . . . . . het 718.95 49 1 14109319 . G A 718.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.737;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.09;MQ0=0;MQRankSum=-0.273;QD=14.67;ReadPosRankSum=0.515;VQSLOD=4.7500;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,28:49:99:749,0,506 1 14143003 14143003 A G exonic PRDM2 nonsynonymous SNV PRDM2:NM_001135610:exon7:c.A593G:p.Q198R 0.82 0.93 0.86 0.71 0.86 0.73 0.8256 0.9304 0.8019 0.7162 0.8166 0.8451 0.8381 0.7571 0.87 0.93 0.84 0.81 0.84 rs1046331 COSM5021264;COSM5021263 1(bone) . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 0.56 0.546 T -0.75 0.740 N . . -1.038 0.180 T 0.000 0.000 T . . . 0.129 0.106 3.917 0.594 0.061 0.002 0.010 N c -1.464 -1.534 0.016 0.129 0.706 0.609 0 -4.33 0.034 -1.752 0.019 -0.876 0.028 0.000 0.063 0.332 0.243 7.200 0.249 . . . 0.8223 0.9294 0.8103 0.8044 0.7117 0.8157 0.8487 0.8349 0.7570 0.8594 0.9377 0.8067 0.7748 0.6968 0.8144 0.8477 0.8388 hom 3124.46 104 1 14143003 . A G 3124.46 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6628;MQ=59.60;MQ0=0;QD=30.04;VQSLOD=8.3682;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:104:99:3157,259,0 1 15438990 15438990 G A exonic KAZN nonsynonymous SNV KAZN:NM_201628:exon14:c.G2116A:p.A706T 0.44 0.26 0.44 0.66 0.4 0.51 0.4799 0.3171 0.6221 0.6988 0.4808 0.4344 0.4778 0.5336 0.36 0.28 0.4 0.49 . rs10803354 COSM3747562;COSM3747563 1(liver);1(large_intestine) . . . . . . . . . . . 0.243 0.175 T 0.001 0.067 B 0.002 0.063 B 0.118 0.191 N 0.985 0.247 P 1.79 0.469 L 2.24 0.179 T -0.19 0.100 N 0.054 0.036 -1.025 0.220 T 0.000 0.000 T . . . 2.285 0.336 18.07 0.987 0.439 0.363 0.253 N c -0.338 -0.162 1.000 0.489 0.516 0.207 1 3.61 0.403 1.583 0.360 1.044 0.665 0.998 0.411 0.181 0.213 6.379 0.206 . . . 0.4534 0.2751 0.5783 0.4397 0.6870 0.4299 0.3942 0.4286 0.5057 0.4055 0.2878 0.5617 0.4555 0.7095 0.4368 0.4194 0.4629 hom 283.61 10 1 15438990 . G A 283.61 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;QD=28.36;VQSLOD=8.3438;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:27.06:317,27,0 1 15789297 15789297 A C exonic CELA2A synonymous SNV CELA2A:NM_033440:exon4:c.A297C:p.A99A 0.4 0.68 0.32 0.23 0.32 0.34 0.3399 0.6126 0.2717 0.2393 0.2472 0.3276 0.3458 0.3552 0.43 0.61 0.33 0.38 0.29 rs3815787 COSM301916 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3301 0.6150 0.2731 0.4493 0.2393 0.2453 0.3206 0.3527 0.3552 0.3832 0.6122 0.3055 0.4564 0.2287 0.2451 0.3071 0.3074 hom 3991.88 124 1 15789297 . A C 3991.88 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5578;MQ=58.67;MQ0=0;QD=32.19;VQSLOD=8.2689;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3991,322,0 1 15812432 15812432 A G exonic CELA2B nonsynonymous SNV CELA2B:NM_015849:exon6:c.A530G:p.Q177R 0.99 0.98 0.99 1. 1. 1. 0.9982 0.9821 0.9986 0.9995 1 0.9999 0.9989 0.9998 0.99 0.98 1. 1. 1. rs6429745 . . . . . . . . . . . . . 0.379 0.112 T 0.0 0.026 B 0.0 0.013 B 0.305 0.145 N 1 0.090 P -0.14 0.045 N -2.38 0.883 D 1.23 0.010 N 0.01 0.137 -0.971 0.370 T 0.000 0.000 T . . . -0.274 0.070 0.762 0.880 0.171 0.043 0.098 N c -1.503 -1.494 0.012 0.123 0.428 0.059 0 -2.83 0.054 -1.209 0.031 -0.001 0.135 0.000 0.063 0.562 0.282 0.461 0.005 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9984 0.9803 0.9979 1 0.9998 1 0.9999 0.9998 0.9997 0.9947 0.9819 0.9964 1 0.9994 0.9997 1 1 hom 8020.08 250 1 15812432 . A G 8020.08 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4440;MQ=59.48;MQ0=0;QD=32.08;VQSLOD=9.2452;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8019,671,0 1 16056364 16056364 G A exonic PLEKHM2 synonymous SNV PLEKHM2:NM_015164:exon14:c.G2148A:p.T716T 0.31 0.71 0.26 0.044 0.21 0.17 0.2415 0.6578 0.1754 0.0453 0.1694 0.2289 0.2528 0.2222 0.35 0.62 0.23 0.34 . rs3817269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2305 0.6578 0.1855 0.2655 0.0442 0.1650 0.2262 0.2476 0.2201 0.3334 0.6667 0.2220 0.2483 0.0451 0.1740 0.2232 0.2159 het 1026.99 73 1 16056364 . G A 1026.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.393;DP=73;Dels=0.00;FS=7.940;HRun=0;HaplotypeScore=3.8279;MQ=59.17;MQ0=0;MQRankSum=-0.197;QD=14.07;ReadPosRankSum=0.998;VQSLOD=4.8117;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,38:73:99:1057,0,949 1 16069644 16069644 C T exonic TMEM82 synonymous SNV TMEM82:NM_001013641:exon3:c.C291T:p.L97L 0.19 0.23 0.17 0.034 0.29 0.18 0.2340 0.2198 0.1521 0.0360 0.2170 0.2767 0.2650 0.2389 0.25 0.21 0.28 0.2 0.25 rs11584945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2273 0.2123 0.1581 0.3221 0.0333 0.1999 0.2746 0.2554 0.2345 0.2311 0.2147 0.1969 0.3377 0.0247 0.2038 0.2688 0.2387 het 430.16 43 1 16069644 . C T 430.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.188;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=2.622;QD=10.00;ReadPosRankSum=-1.982;VQSLOD=9.0380;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,18:43:99:460,0,582 1 16096934 16096934 C T exonic FBLIM1 nonsynonymous SNV FBLIM1:NM_001024216:exon4:c.C281T:p.S94F,FBLIM1:NM_001024215:exon5:c.C572T:p.S191F,FBLIM1:NM_017556:exon6:c.C572T:p.S191F,FBLIM1:NM_001350151:exon7:c.C572T:p.S191F 0.64 0.38 0.69 0.83 0.65 0.76 0.6816 0.4195 0.7554 0.8033 0.6219 0.6895 0.6493 0.7246 0.62 0.43 0.71 0.6 0.63 rs10927851 COSM3750523;COSM3750522 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.766 0.386 T 0.996 0.689 D 0.916 0.634 D 0.059 0.223 N 0.146 0.391 P 0.875 0.216 L 0.93 0.441 T -2.34 0.672 N 0.332 0.396 -1.081 0.071 T 0.000 0.000 T . . . 6.698 0.916 32 0.998 0.858 0.981 0.797 D c 0.398 0.444 1.000 0.747 0.672 0.522 0 5.24 0.728 3.730 0.545 0.888 0.391 1.000 0.715 0.996 0.625 14.607 0.679 Zinc finger\x2c LIM-type . . 0.6883 0.4162 0.7576 0.5612 0.8049 0.6245 0.7003 0.6723 0.7282 0.6206 0.4192 0.7271 0.5728 0.8149 0.6380 0.7049 0.6660 het 1781.97 149 1 16096934 . C T 1781.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.439;DP=149;Dels=0.00;FS=2.145;HRun=1;HaplotypeScore=2.2859;MQ=59.19;MQ0=1;MQRankSum=2.490;QD=11.96;ReadPosRankSum=-0.693;VQSLOD=5.0239;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,72:149:99:1812,0,1899 1 16101217 16101217 C T exonic FBLIM1 synonymous SNV FBLIM1:NM_001024216:exon5:c.C525T:p.C175C,FBLIM1:NM_001024215:exon6:c.C816T:p.C272C,FBLIM1:NM_017556:exon7:c.C816T:p.C272C,FBLIM1:NM_001350151:exon8:c.C816T:p.C272C 0.055 0.045 0.085 . 0.12 0.035 0.0760 0.0499 0.0516 0.0010 0.0838 0.1025 0.0784 0.0388 0.078 0.051 0.092 0.076 0.098 rs41268337 COSM3750524;COSM3750525 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0752 0.0448 0.0555 0.1242 0.0009 0.0814 0.1008 0.0866 0.0387 0.0684 0.0468 0.0656 0.1523 0.0012 0.0799 0.0835 0.0777 het 2185.09 208 1 16101217 . C T 2185.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DP=208;Dels=0.00;FS=5.912;HRun=0;HaplotypeScore=0.9867;MQ=58.75;MQ0=0;MQRankSum=1.924;QD=10.51;ReadPosRankSum=-0.775;VQSLOD=4.1337;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,86:208:99:2215,0,3196 1 16256007 16256007 T C exonic SPEN nonsynonymous SNV SPEN:NM_015001:exon11:c.T3272C:p.L1091P 0.65 0.98 0.71 0.32 0.56 0.59 0.6154 0.9195 0.7683 0.3288 0.6043 0.5770 0.6018 0.6278 0.69 0.91 0.58 0.59 0.41 rs848209 COSM4142934 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.846 0.028 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -0.895 0.014 N 3.2 0.073 T 0.6 0.025 N 0.012 0.012 -1.030 0.206 T 0.000 0.000 T . . . -0.797 0.040 0.043 0.776 0.115 0.020 0.059 N c -1.030 -0.892 0.097 0.163 0.707 0.730 0 3.51 0.391 1.064 0.300 -0.302 0.080 0.124 0.230 0.197 0.217 11.158 0.475 . ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000186510.7 Artery_Aorta|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid 0.6159 0.9253 0.7545 0.6131 0.3282 0.6082 0.5749 0.6194 0.6276 0.6713 0.9243 0.7584 0.61 0.2983 0.6105 0.5802 0.5867 het 634.25 58 1 16256007 . T C 634.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.041;DP=58;Dels=0.00;FS=2.243;HRun=1;HaplotypeScore=0.9916;MQ=59.36;MQ0=0;MQRankSum=0.122;QD=10.94;ReadPosRankSum=-0.155;VQSLOD=6.8665;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,24:58:99:664,0,899 1 16259813 16259813 A G exonic SPEN nonsynonymous SNV SPEN:NM_015001:exon11:c.A7078G:p.N2360D 0.65 0.98 0.71 0.32 0.56 0.59 0.6146 0.9193 0.7674 0.3278 0.6050 0.5760 0.6020 0.6270 0.69 0.91 0.58 0.61 0.69 rs848210 COSM4142938 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.853 0.027 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.625 0.021 N 3.13 0.080 T 0.77 0.020 N 0.001 0.000 -1.042 0.168 T 0.000 0.000 T . . . -1.105 0.028 0.010 0.538 0.049 0.094 0.150 N c -1.237 -1.093 0.230 0.184 0.707 0.730 0 3.1 0.346 3.586 0.534 0.076 0.183 0.665 0.281 0.006 0.095 7.596 0.271 . ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000186510.7 Artery_Aorta|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid 0.6160 0.9254 0.7544 0.6132 0.3282 0.6086 0.5750 0.6205 0.6272 0.6706 0.9239 0.7590 0.6033 0.2976 0.6101 0.5793 0.5866 het 1229.48 110 1 16259813 . A G 1229.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.635;DP=110;Dels=0.00;FS=9.439;HRun=0;HaplotypeScore=2.9912;MQ=59.24;MQ0=0;MQRankSum=-1.058;QD=11.18;ReadPosRankSum=0.641;VQSLOD=4.3830;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,47:110:99:1259,0,1766 1 16260606 16260606 G A exonic SPEN nonsynonymous SNV SPEN:NM_015001:exon11:c.G7871A:p.R2624Q . . . . . . 0.0003 0 0 0 0 0.0004 0.0022 6.104e-05 0.0002 . 0.0003 . . rs200512596 COSM4024565 1(stomach) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.994 0.807 D . . . 1.000 0.530 D 1.79 0.469 L 2.35 0.162 T -1.31 0.328 N 0.615 0.637 -1.094 0.048 T 0.110 0.397 T 0.017 0.392 T 6.762 0.922 32 0.999 0.940 0.982 0.803 D c 0.697 0.689 1.000 0.747 0.707 0.730 0 5.24 0.728 7.464 0.798 1.048 0.713 1.000 0.715 0.990 0.544 18.818 0.920 . . . 0.0002 0 0 0 0 4.489e-05 0.0004 0 3.257e-05 0.0003 0.0001 0 0 0 0.0003 0.0004 0 het 2893.81 190 1 16260606 . G A 2893.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.310;DP=190;Dels=0.00;FS=0.541;HRun=0;HaplotypeScore=4.9852;MQ=59.09;MQ0=0;MQRankSum=0.131;QD=15.23;ReadPosRankSum=-1.425;VQSLOD=3.5290;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,106:190:99:2924,0,1998 1 16272250 16272250 A G exonic ZBTB17 synonymous SNV ZBTB17:NM_001242884:exon5:c.T375C:p.A125A,ZBTB17:NM_001324137:exon5:c.T393C:p.A131A,ZBTB17:NM_001324138:exon5:c.T432C:p.A144A,ZBTB17:NM_001287603:exon6:c.T621C:p.A207A,ZBTB17:NM_001287604:exon6:c.T393C:p.A131A,ZBTB17:NM_003443:exon6:c.T621C:p.A207A 0.48 0.47 0.63 0.32 0.5 0.54 0.5232 0.4727 0.7181 0.3291 0.5210 0.5075 0.5150 0.5811 0.48 0.46 0.49 0.45 0.52 rs848217 COSM5425001;COSM3930473;COSM1747901;COSM1747902 1(haematopoietic_and_lymphoid_tissue);7(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5310 0.4693 0.7009 0.5844 0.3299 0.5266 0.5005 0.5325 0.5819 0.4920 0.4741 0.6909 0.5728 0.2996 0.5382 0.4991 0.4990 het 664.96 70 1 16272250 . A G 664.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.329;DP=70;Dels=0.00;FS=4.946;HRun=1;HaplotypeScore=3.4691;MQ=59.34;MQ0=0;MQRankSum=0.837;QD=9.50;ReadPosRankSum=0.902;VQSLOD=4.9315;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,28:70:99:695,0,1005 1 16342237 16342237 A G exonic HSPB7 synonymous SNV HSPB7:NM_001349683:exon3:c.T363C:p.T121T,HSPB7:NM_001349685:exon3:c.T333C:p.T111T,HSPB7:NM_001349687:exon3:c.T336C:p.T112T,HSPB7:NM_001349688:exon3:c.T348C:p.T116T,HSPB7:NM_001349689:exon3:c.T366C:p.T122T,HSPB7:NM_014424:exon3:c.T351C:p.T117T,HSPB7:NM_001349682:exon4:c.T576C:p.T192T 0.65 0.72 0.46 0.76 0.59 0.64 0.5938 0.7044 0.3760 0.7423 0.5752 0.5930 0.6024 0.6121 0.62 0.7 0.59 0.69 0.44 rs1739840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5787 0.7045 0.3917 0.5170 0.7526 0.5691 0.5939 0.5721 0.5933 0.6276 0.7075 0.4200 0.5563 0.7932 0.5562 0.5932 0.6227 het 1482.14 103 1 16342237 . A G 1482.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.792;DP=103;Dels=0.00;FS=1.747;HRun=1;HaplotypeScore=2.7040;MQ=59.40;MQ0=0;MQRankSum=1.679;QD=14.39;ReadPosRankSum=-0.433;VQSLOD=5.9636;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,58:103:99:1512,0,1295 1 16344360 16344360 A G exonic HSPB7 synonymous SNV HSPB7:NM_001349683:exon1:c.T99C:p.A33A,HSPB7:NM_001349685:exon1:c.T99C:p.A33A,HSPB7:NM_001349686:exon1:c.T99C:p.A33A,HSPB7:NM_001349687:exon1:c.T99C:p.A33A,HSPB7:NM_001349688:exon1:c.T99C:p.A33A,HSPB7:NM_001349689:exon1:c.T99C:p.A33A,HSPB7:NM_014424:exon1:c.T99C:p.A33A 0.65 0.71 0.46 0.76 0.59 0.64 0.5893 0.6905 0.3768 0.7401 0.5837 0.5903 0.5979 0.5926 0.62 0.68 0.59 0.65 0.34 rs732286 COSM5428072;COSM5428071 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5750 0.6889 0.3910 0.5108 0.7515 0.5669 0.5915 0.5694 0.5897 0.6239 0.6927 0.4189 0.5563 0.7920 0.5565 0.5944 0.6214 het 658.06 37 1 16344360 . A G 658.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.799;DP=37;Dels=0.00;FS=3.278;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.830;QD=17.79;ReadPosRankSum=-0.423;VQSLOD=5.1023;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,23:37:99:688,0,318 1 16344402 16344402 G A exonic HSPB7 synonymous SNV HSPB7:NM_001349683:exon1:c.C57T:p.S19S,HSPB7:NM_001349685:exon1:c.C57T:p.S19S,HSPB7:NM_001349686:exon1:c.C57T:p.S19S,HSPB7:NM_001349687:exon1:c.C57T:p.S19S,HSPB7:NM_001349688:exon1:c.C57T:p.S19S,HSPB7:NM_001349689:exon1:c.C57T:p.S19S,HSPB7:NM_014424:exon1:c.C57T:p.S19S 0.65 0.71 0.46 0.76 0.59 0.64 0.5885 0.6896 0.3758 0.7420 0.5779 0.5900 0.5978 0.5908 0.62 0.68 0.58 0.67 . rs945416 COSM5483361;COSM4142947 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5750 0.6884 0.3910 0.5107 0.7512 0.5672 0.5913 0.5693 0.5897 0.6228 0.6911 0.4187 0.5567 0.7907 0.5559 0.5933 0.6235 het 783.48 54 1 16344402 . G A 783.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.805;DP=54;Dels=0.00;FS=5.672;HRun=1;HaplotypeScore=2.7256;MQ=58.37;MQ0=0;MQRankSum=0.035;QD=14.51;ReadPosRankSum=0.647;VQSLOD=5.0704;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,31:54:99:813,0,579 1 16351275 16351275 A G exonic CLCNKA nonsynonymous SNV CLCNKA:NM_001042704:exon4:c.A247G:p.R83G,CLCNKA:NM_004070:exon4:c.A247G:p.R83G 0.64 0.72 0.45 0.77 0.56 0.63 0.5636 0.7042 0.3644 0.7458 0.5317 0.5580 0.5642 0.5549 0.6 0.7 0.55 0.67 0.48 rs10927887 COSM1737823 1(liver);2(central_nervous_system) . . . . . . . . . . . 0.389 0.109 T 0.0 0.026 B 0.0 0.013 B 0.728 0.099 N 1.000 0.242 P 1.385 0.346 L -3.05 0.924 D -0.17 0.096 N 0.056 0.039 -0.919 0.457 T 0.000 0.000 T . . . 0.117 0.105 3.790 0.886 0.175 0.204 0.208 N c -0.925 -0.843 0.014 0.126 0.549 0.223 0 0.872 0.182 0.107 0.151 -1.287 0.014 0.003 0.159 0.826 0.345 7.321 0.255 Chloride channel\x2c core ENSG00000184908.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000184908.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000184908.13|ENSG00000173641.13|ENSG00000186510.7 Adipose_Subcutaneous|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Thyroid|Thyroid 0.5497 0.7056 0.3784 0.4636 0.7568 0.5231 0.5600 0.5427 0.5534 0.6030 0.7043 0.3986 0.4967 0.7954 0.5143 0.5592 0.5746 het 1422.42 109 1 16351275 . A G 1422.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.134;DP=109;Dels=0.00;FS=2.660;HRun=3;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;MQRankSum=-0.343;QD=13.05;ReadPosRankSum=0.725;VQSLOD=4.8723;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,57:109:99:1452,0,1447 1 16356501 16356501 G A exonic CLCNKA nonsynonymous SNV CLCNKA:NM_001257139:exon13:c.G1210A:p.A404T,CLCNKA:NM_001042704:exon14:c.G1339A:p.A447T,CLCNKA:NM_004070:exon14:c.G1339A:p.A447T 0.65 0.75 0.45 0.77 0.56 0.63 0.5612 0.7221 0.3629 0.7457 0.5284 0.5529 0.5601 0.5492 0.6 0.71 0.54 0.72 0.42 rs1805152 COSM3747578 2(liver);2(thyroid) . . . . . . . . . . . 0.122 0.276 T 0.006 0.126 B 0.005 0.127 B 0.019 0.272 N 0.984 0.248 P 1.55 0.394 L -3.11 0.927 D -0.1 0.096 N 0.012 0.040 -0.938 0.429 T 0.000 0.000 T . . . 0.469 0.139 7.191 0.852 0.152 0.057 0.115 N c -1.332 -1.345 0.001 0.076 0.554 0.283 0 0.33 0.151 -0.320 0.080 -1.817 0.006 0.000 0.063 0.000 0.016 5.676 0.169 Chloride channel\x2c core ENSG00000184908.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000184908.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000184908.13|ENSG00000173641.13|ENSG00000186510.7 Adipose_Subcutaneous|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Thyroid|Thyroid 0.5465 0.7225 0.3763 0.4502 0.7560 0.5206 0.5549 0.5383 0.5482 0.6045 0.7211 0.3962 0.4698 0.7932 0.5115 0.5541 0.5755 het 736.47 103 1 16356501 . G A 736.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.363;DP=103;Dels=0.00;FS=1.785;HRun=0;HaplotypeScore=3.4265;MQ=59.09;MQ0=0;MQRankSum=1.122;QD=7.15;ReadPosRankSum=-1.400;VQSLOD=5.3143;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,33:103:99:766,0,1707 1 16371067 16371067 G T exonic CLCNKB nonsynonymous SNV CLCNKB:NM_000085:exon2:c.G80T:p.R27L 0.56 0.25 0.69 0.65 0.66 0.66 0.6413 0.3297 0.7585 0.6597 0.5866 0.6565 0.6387 0.6965 0.53 0.3 0.64 0.52 0.49 rs2015352 COSM3750546 1(large_intestine) . . . . . . . . . . . 0.025 0.473 D 0.468 0.346 P 0.162 0.332 B 0.094 0.202 N 0.882 0.280 P 2.745 0.805 M -1.92 0.848 D -3.05 0.629 D 0.16 0.192 -0.903 0.477 T 0.000 0.000 T . . . 4.307 0.577 24.0 0.995 0.698 0.137 0.178 N c -0.286 -0.299 0.002 0.094 0.497 0.185 0 3.16 0.353 0.008 0.130 0.926 0.436 0.000 0.063 0.983 0.502 6.147 0.194 . . . 0.6271 0.2847 0.7316 0.6828 0.6346 0.5516 0.6333 0.6228 0.6876 0.5347 0.2923 0.7146 0.6788 0.6464 0.5570 0.6378 0.6445 hom 232.48 10 1 16371067 . G T 232.48 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.25;VQSLOD=11.9894;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:21.05:265,21,0 1 16373124 16373124 A G exonic CLCNKB synonymous SNV CLCNKB:NM_000085:exon4:c.A324G:p.S108S 0.74 0.31 0.85 0.99 0.83 0.89 0.8022 0.3879 0.9074 0.9898 0.7626 0.8104 0.8002 0.8742 0.67 0.4 0.81 0.7 0.7 rs5257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8123 0.3761 0.9003 0.8342 0.9891 0.7625 0.8095 0.8088 0.8739 0.6923 0.3788 0.8675 0.8212 0.9864 0.7649 0.8061 0.8039 hom 3507.58 114 1 16373124 . A G 3507.58 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.23;MQ0=0;QD=30.77;VQSLOD=8.4599;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3507,289,0 1 16374533 16374533 G C exonic CLCNKB synonymous SNV CLCNKB:NM_000085:exon5:c.G492C:p.G164G 0.89 0.72 0.93 1. 0.94 0.94 0.9298 0.7633 0.9605 0.9997 0.9258 0.9424 0.9292 0.9277 0.88 0.77 0.94 0.86 0.86 rs2014562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9317 0.7566 0.9581 0.8928 0.9997 0.9235 0.9438 0.9251 0.9276 0.8936 0.7582 0.9475 0.8808 1 0.9189 0.9492 0.9376 hom 1992.80 59 1 16374533 . G C 1992.80 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=58.10;MQ0=0;QD=33.78;VQSLOD=7.8309;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:2026,159,0 1 16376319 16376319 T C exonic CLCNKB synonymous SNV CLCNKB:NM_001165945:exon3:c.T369C:p.C123C,CLCNKB:NM_000085:exon10:c.T876C:p.C292C 0.83 0.49 0.91 1. 0.94 0.94 0.9114 0.5638 0.9532 0.9998 0.9262 0.9414 0.9218 0.9267 0.82 0.58 0.94 0.79 0.81 rs7368151 COSM4142955;COSM4142954 1(thyroid) Benign not_specified RCV000427070.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9173 0.5553 0.9490 0.8919 0.9998 0.9234 0.9431 0.9155 0.9268 0.8369 0.5588 0.9296 0.8833 1 0.9189 0.9490 0.9252 hom 8071.32 247 1 16376319 . T C 8071.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.376;DP=247;DS;Dels=0.00;FS=5.105;HRun=0;HaplotypeScore=4.5311;MQ=55.03;MQ0=0;MQRankSum=1.943;QD=32.68;ReadPosRankSum=-0.363;VQSLOD=3.4175;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,245:247:99:8033,610,0 1 16380196 16380196 T C exonic CLCNKB nonsynonymous SNV CLCNKB:NM_001165945:exon9:c.T1178C:p.M393T,CLCNKB:NM_000085:exon16:c.T1685C:p.M562T 0.84 0.65 0.92 0.84 0.97 0.91 0.9310 0.6908 0.9539 0.8081 0.9356 0.9802 0.9302 0.9302 0.89 0.7 0.98 0.84 0.97 rs5253 . . . . . . . . . . . . . 0.872 0.032 T 0.0 0.026 B 0.003 0.080 B 0.986 0.081 N 1 0.090 P -0.935 0.013 N -3.01 0.922 D 0.22 0.047 N 0.008 0.198 -0.983 0.344 T 0.000 0.000 T . . . -1.784 0.011 0.002 0.534 0.048 0.002 0.014 N c -1.919 -1.856 0.088 0.160 0.615 0.372 0 -3.73 0.041 -1.338 0.027 -2.268 0.003 0.000 0.063 0.299 0.237 7.111 0.244 CBS domain . . 0.9354 0.6839 0.9477 0.9514 0.8066 0.9378 0.9843 0.9515 0.9315 0.8837 0.6920 0.9414 0.9735 0.8230 0.9393 0.9803 0.9358 hom 4340.35 158 1 16380196 . T C 4340.35 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.707;DP=158;Dels=0.00;FS=3.163;HRun=0;HaplotypeScore=2.4703;MQ=51.79;MQ0=6;MQRankSum=0.091;QD=27.47;ReadPosRankSum=0.684;VQSLOD=3.0190;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,157:158:99:4307,331,0 1 16388646 16388646 T C exonic FAM131C synonymous SNV FAM131C:NM_182623:exon4:c.A216G:p.R72R 0.82 0.72 0.86 0.83 0.87 0.85 0.8516 0.7235 0.9126 0.8321 0.7969 0.8664 0.8180 0.8579 0.82 0.72 0.87 0.5 0.77 rs2863456 COSM3930479 1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8546 0.7251 0.9051 0.8854 0.8334 0.7986 0.8666 0.8579 0.8610 0.8132 0.7281 0.8902 0.89 0.8383 0.8110 0.8535 0.8224 hom 1731.62 63 1 16388646 . T C 1731.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.540;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9992;MQ=44.52;MQ0=2;MQRankSum=0.596;QD=27.49;ReadPosRankSum=0.994;VQSLOD=2.6219;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,62:63:99:1765,117,0 1 16451767 16451767 G A exonic EPHA2 synonymous SNV EPHA2:NM_001329090:exon16:c.C2712T:p.I904I,EPHA2:NM_004431:exon17:c.C2874T:p.I958I 0.24 0.11 0.31 0.15 0.32 0.35 0.2751 0.1305 0.3441 0.1479 0.2591 0.2811 0.2926 0.3645 0.23 0.12 0.28 0.16 0.29 rs3754334 COSM4142961 2(thyroid) Benign|Benign not_specified|Age-related_cortical_cataract RCV000244865.1|RCV000304354.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0011143:C2880562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2787 0.1263 0.3420 0.2842 0.1464 0.2620 0.2805 0.2968 0.3595 0.2237 0.1269 0.3337 0.2848 0.1429 0.2669 0.2687 0.2649 het 451.89 42 1 16451767 . G A 451.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.858;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=0.390;QD=10.76;ReadPosRankSum=-1.347;VQSLOD=6.2693;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,20:42:99:482,0,575 1 16464653 16464653 G C exonic EPHA2 nonsynonymous SNV EPHA2:NM_001329090:exon4:c.C845G:p.T282R,EPHA2:NM_004431:exon5:c.C1007G:p.T336R . . . . . . 0.0001 0 0 0 0 0.0002 0 0 0.0003 . 0.0005 . . rs146085387 . . . . . . . . . . . . . 0.002 0.721 D 0.938 0.506 P 0.589 0.486 P 0.010 0.302 N 1.000 0.537 D 1.4 0.355 L 0.39 0.574 T -2.7 0.576 D 0.708 0.710 -0.766 0.571 T 0.175 0.519 T 0.075 0.722 D 5.134 0.692 25.4 0.991 0.522 0.651 0.323 D c 0.136 0.153 1.000 0.747 0.722 0.854 0 4.97 0.653 0.655 0.244 1.048 0.713 0.026 0.200 0.978 0.483 16.109 0.810 Fibronectin type III|Immunoglobulin-like fold . . 0.0001 0 0 0 0 5.299e-05 0.0003 0 0 0.0001 0 0 0 0 0.0003 0.0002 0 het 916.39 60 1 16464653 . G C 916.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.252;DP=60;Dels=0.00;FS=3.607;HRun=0;HaplotypeScore=4.8923;MQ=57.96;MQ0=0;MQRankSum=0.160;QD=15.27;ReadPosRankSum=1.443;VQSLOD=2.7532;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,33:60:99:946,0,688 1 16464673 16464673 G A exonic EPHA2 synonymous SNV EPHA2:NM_001329090:exon4:c.C825T:p.P275P,EPHA2:NM_004431:exon5:c.C987T:p.P329P 0.35 0.34 0.43 0.15 0.42 0.44 0.3787 0.3621 0.3510 0.1218 0.3417 0.4022 0.3855 0.4607 0.39 0.36 0.4 0.33 0.44 rs2230597 COSM3749009 1(breast);4(large_intestine) Benign|Benign not_specified|Age-related_cortical_cataract RCV000247172.1|RCV000281939.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0011143:C2880562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3775 0.3497 0.3589 0.4487 0.1249 0.3438 0.4019 0.4061 0.4583 0.3666 0.3567 0.3753 0.4669 0.1239 0.3430 0.3990 0.4059 het 784.84 48 1 16464673 . G A 784.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.031;DP=48;Dels=0.00;FS=4.180;HRun=1;HaplotypeScore=1.7781;MQ=59.52;MQ0=0;MQRankSum=0.652;QD=16.35;ReadPosRankSum=0.238;VQSLOD=6.2009;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,26:48:99:815,0,625 1 16475123 16475123 C T exonic EPHA2 synonymous SNV EPHA2:NM_001329090:exon2:c.G411A:p.L137L,EPHA2:NM_004431:exon3:c.G573A:p.L191L 0.23 0.15 0.37 0.031 0.36 0.3 0.2900 0.1663 0.3174 0.0176 0.2533 0.3320 0.2993 0.3365 0.28 0.17 0.35 0.26 0.33 rs6678616 . . Benign|Benign not_specified|Age-related_cortical_cataract RCV000253199.1|RCV000309096.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0011143:C2880562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2989 0.1615 0.3307 0.3980 0.0174 0.2776 0.3343 0.3326 0.3368 0.2598 0.1617 0.3233 0.4371 0.0179 0.2786 0.3281 0.3180 het 895.47 107 1 16475123 . C T 895.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.183;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=60.00;MQ0=0;MQRankSum=0.494;QD=8.37;ReadPosRankSum=0.202;VQSLOD=5.2062;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,40:107:99:925,0,1833 1 16475126 16475126 C T exonic EPHA2 synonymous SNV EPHA2:NM_001329090:exon2:c.G408A:p.A136A,EPHA2:NM_004431:exon3:c.G570A:p.A190A 0.23 0.15 0.37 0.031 0.36 0.3 0.2900 0.1667 0.3175 0.0176 0.2535 0.3320 0.2993 0.3365 0.28 0.17 0.35 0.26 0.36 rs6678618 COSM1178394 1(prostate) Benign|Benign not_specified|Age-related_cortical_cataract RCV000249831.1|RCV000363768.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0011143:C2880562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2988 0.1616 0.3307 0.3981 0.0174 0.2765 0.3342 0.3329 0.3369 0.2598 0.1612 0.3241 0.4371 0.0179 0.2788 0.3282 0.3186 het 943.78 104 1 16475126 . C T 943.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.223;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=59.78;MQ0=0;MQRankSum=0.286;QD=9.07;ReadPosRankSum=-0.529;VQSLOD=6.3645;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,41:104:99:974,0,1559 1 16532498 16532498 G A exonic ARHGEF19 nonsynonymous SNV ARHGEF19:NM_153213:exon8:c.C1379T:p.P460L 0.036 0.0038 0.062 . 0.1 0.032 0.1135 0.0302 0.0876 0.0002 0.1285 0.1623 0.1270 0.0413 0.087 0.023 0.12 . 0.082 rs41269185 COSM4999250;COSM4999249 1(pancreas) . . . . . . . . . . . 0.008 0.586 D 0.999 0.764 D 0.983 0.742 D 0.000 0.513 D 0.000 0.588 P 1.925 0.515 L 1.45 0.325 T -9.03 0.983 D 0.298 0.358 -1.030 0.205 T 0.005 0.017 T . . . 6.683 0.915 32 0.997 0.819 0.934 0.577 D c 0.380 0.439 1.000 0.747 0.609 0.349 0 4.66 0.577 5.008 0.635 1.048 0.713 1.000 0.715 0.968 0.456 15.048 0.714 Dbl homology (DH) domain ENSG00000142632.12|ENSG00000237276.4|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000237276.4|ENSG00000142632.12|ENSG00000237276.4|ENSG00000142632.12|ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Hippocampus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Stomach|Testis|Whole_Blood|Whole_Blood|Whole_Blood 0.0809 0.0204 0.0559 0.1262 6.075e-05 0.0716 0.1208 0.0951 0.0307 0.0735 0.0218 0.0646 0.1490 0 0.0722 0.1110 0.0723 het 396.58 35 1 16532498 . G A 396.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.432;DP=35;Dels=0.00;FS=1.281;HRun=0;HaplotypeScore=1.5592;MQ=58.93;MQ0=0;MQRankSum=2.363;QD=11.33;ReadPosRankSum=-2.053;VQSLOD=4.9272;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,16:35:99:427,0,450 1 16534646 16534646 C G exonic ARHGEF19 nonsynonymous SNV ARHGEF19:NM_153213:exon3:c.G487C:p.G163R 0.24 0.086 0.39 0.15 0.27 0.42 0.2700 0.1023 0.4630 0.1269 0.1736 0.2584 0.2428 0.3996 0.21 0.1 0.26 0.3 0.25 rs221058 COSM1335927 1(thyroid) . . . . . . . . . . . 0.069 0.355 T 0.014 0.156 B 0.011 0.145 B 0.615 0.057 N 0.998 0.222 P 0.975 0.246 L 0.76 0.499 T -2.16 0.488 N 0.087 0.083 -0.995 0.312 T 0.000 0.000 T . . . 2.399 0.350 18.81 0.988 0.457 0.186 0.201 N c -0.669 -0.606 1.000 0.747 0.646 0.442 0 2.13 0.263 0.184 0.166 0.848 0.348 0.001 0.137 0.674 0.303 6.672 0.221 . ENSG00000142632.12|ENSG00000132881.7|ENSG00000142632.12|ENSG00000204377.3|ENSG00000132881.7|ENSG00000132881.7|ENSG00000132881.7|ENSG00000142632.12|ENSG00000142632.12|ENSG00000132881.7|ENSG00000142632.12|ENSG00000132881.7|ENSG00000234166.1|ENSG00000142627.9|ENSG00000234166.1|ENSG00000142632.12|ENSG00000234166.1|ENSG00000184908.13|ENSG00000132881.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2776 0.0968 0.4515 0.2914 0.1261 0.1815 0.2573 0.2914 0.3990 0.1994 0.0968 0.4199 0.2933 0.1187 0.1956 0.2502 0.2673 het 1174.13 81 1 16534646 . C G 1174.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.781;DP=81;Dels=0.00;FS=0.850;HRun=0;HaplotypeScore=0.9973;MQ=59.72;MQ0=0;MQRankSum=0.882;QD=14.50;ReadPosRankSum=-0.262;VQSLOD=6.6528;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,46:81:99:1204,0,890 1 16577908 16577908 G C exonic FBXO42 nonsynonymous SNV FBXO42:NM_018994:exon10:c.C1411G:p.P471A 0.27 0.43 0.21 0.17 0.33 0.13 0.3035 0.4361 0.1663 0.1889 0.3377 0.3558 0.2919 0.1532 0.38 0.42 0.36 0.37 0.37 rs12069239 COSM3747581 1(liver) . . . . . . . . . . . 0.885 0.030 T 0.0 0.026 B 0.0 0.013 B 0.323 0.142 N 1.000 0.198 P 0 0.065 N 3.68 0.394 T 0.08 0.060 N 0.01 0.100 -0.919 0.456 T 0.000 0.000 T . . . -1.071 0.029 0.011 0.457 0.036 0.046 0.102 N c -0.995 -0.856 0.713 0.228 0.707 0.730 0 0.736 0.174 0.318 0.191 -1.646 0.008 0.073 0.219 0.941 0.415 1.564 0.024 . ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000142632.12|ENSG00000037637.6|ENSG00000142632.12|ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000142632.12|ENSG00000237276.4|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000237276.4|ENSG00000142632.12|ENSG00000037637.6|ENSG00000204377.3|ENSG00000142632.12|ENSG00000237276.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood 0.2971 0.4341 0.1745 0.2938 0.1848 0.3376 0.3637 0.3064 0.1539 0.3632 0.4307 0.2249 0.2947 0.1805 0.3342 0.3638 0.2959 het 731.58 69 1 16577908 . G C 731.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.596;DP=69;Dels=0.00;FS=2.191;HRun=0;HaplotypeScore=5.5690;MQ=59.67;MQ0=0;MQRankSum=0.486;QD=10.60;ReadPosRankSum=-1.727;VQSLOD=4.2012;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,27:69:99:762,0,1168 1 16641899 16641899 C T exonic FBXO42 synonymous SNV FBXO42:NM_018994:exon2:c.G15A:p.S5S 0.36 0.047 0.34 0.68 0.42 0.39 0.3970 0.1106 0.3606 0.6819 0.5105 0.4000 0.4404 0.3936 0.3 0.12 0.4 0.27 0.29 rs2273311 COSM5427407 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4031 0.1039 0.3641 0.3605 0.6867 0.5111 0.3979 0.3851 0.3927 0.3434 0.1044 0.3270 0.3344 0.6952 0.5003 0.4039 0.4255 het 1389.45 99 1 16641899 . C T 1389.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.870;DP=99;Dels=0.00;FS=1.625;HRun=0;HaplotypeScore=2.8276;MQ=59.24;MQ0=0;MQRankSum=-0.447;QD=14.03;ReadPosRankSum=0.877;VQSLOD=6.4193;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,55:99:99:1419,0,1046 1 16727305 16727305 - CTT exonic SPATA21 nonframeshift insertion SPATA21:NM_198546:exon11:c.1083_1084insAAG:p.K361_L362insK 0.099 0.22 0.084 0.001 0.11 0.034 0.1018 0.2226 0.0594 0.0005 0.0712 0.1232 0.0947 0.0350 0.16 0.21 0.13 . . rs80260069 COSM327968;COSM5713024 1(pancreas);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0978 0.2207 0.0663 0.1277 0.0004 0.0734 0.1250 0.1074 0.0332 0.1290 0.2127 0.0704 0.1490 0 0.0736 0.1131 0.0835 het 5046.08 233 1 16727305 . G GCTT 5046.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.829;DP=233;DS;FS=2.399;HRun=0;HaplotypeScore=753.4762;MQ=57.34;MQ0=0;MQRankSum=-1.048;QD=21.56;ReadPosRankSum=1.287;set=variant2 GT:AD:DP:GQ:PL 0/1:147,85:233:99:5046,0,5067 1 16730308 16730308 G T exonic SPATA21 nonsynonymous SNV SPATA21:NM_198546:exon10:c.C915A:p.H305Q 0.051 0.0061 0.068 0.069 0.074 0.059 0.0678 0.0126 0.0604 0.0760 0.0959 0.0758 0.0779 0.0587 0.05 0.015 0.068 0.033 0.082 rs41269193 COSM146418 1(stomach) . . . . . . . . . . . 0.358 0.185 T 0.257 0.297 B 0.074 0.267 B 0.980 0.078 N 1 0.090 N 0.69 0.170 N 1.03 0.626 T -0.91 0.245 N 0.05 0.031 -1.101 0.040 T 0.008 0.029 T . . . 0.263 0.119 5.324 0.870 0.164 0.007 0.031 N c -1.086 -1.098 0.086 0.160 0.428 0.059 0 -4.0 0.038 -0.790 0.047 -1.367 0.012 0.095 0.225 0.597 0.288 8.329 0.312 EF-hand domain|EF-hand domain pair . . 0.0693 0.0116 0.0643 0.0885 0.0747 0.1053 0.0724 0.0788 0.0561 0.0600 0.0114 0.0573 0.0927 0.0717 0.0964 0.0767 0.0809 het 1959.03 162 1 16730308 . G T 1959.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DP=162;Dels=0.00;FS=4.933;HRun=2;HaplotypeScore=8.8221;MQ=59.74;MQ0=0;MQRankSum=0.144;QD=12.09;ReadPosRankSum=-1.068;VQSLOD=3.9562;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,75:162:99:1989,0,2197 1 16736326 16736326 C T exonic SPATA21 synonymous SNV SPATA21:NM_198546:exon6:c.G357A:p.P119P 0.0026 . 0.0072 . 0.008 . 0.0037 0.0011 0.0035 0 0.0010 0.0056 0.0048 0.0002 0.0044 0.0009 0.0062 . . rs146259783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0007 0.0042 0.0017 0 0.0006 0.0064 0.004 0.0001 0.0036 0.0016 0.0072 0.0033 0 0.0003 0.0057 0.0031 het 271.53 25 1 16736326 . C T 271.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.637;DP=25;Dels=0.00;FS=6.761;HRun=0;HaplotypeScore=2.6492;MQ=59.07;MQ0=0;MQRankSum=0.579;QD=10.86;ReadPosRankSum=-0.463;VQSLOD=3.4440;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,11:25:99:302,0,372 1 16892272 16892272 - T exonic NBPF1 unknown UNKNOWN . . . . . . 0.0582 0.0702 0.0424 0.0569 0.1047 0.0584 0.0657 0.0391 . . . . . rs373748839 COSN15651581;COSN20094404;COSN20094406;COSN15651580;COSN20094405;COSN20094403 2(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0280 0.0182 0.0366 0.0340 0.0163 0.0295 0.0279 0.0332 0.0255 0.0024 0.0033 0 0 0.0014 0.0004 0.0031 0 het 697.55 42 1 16892272 . C CT 697.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.528;DP=42;DS;FS=88.834;HRun=1;HaplotypeScore=407.5146;MQ=13.50;MQ0=153;MQRankSum=-5.049;QD=2.85;ReadPosRankSum=-1.171;set=variant2 GT:AD:DP:GQ:PL 0/1:222,23:42:99:737,0,647 1 16892277 16892277 G - exonic NBPF1 unknown UNKNOWN . . . . . . 0.1505 0.1435 0.1584 0.1502 0.2398 0.1426 0.1609 0.1340 0.17 0.17 0.17 . . rs368729374 COSN15648855;COSN15648856;COSN20094407;COSN20094409;COSN20094408;COSN20094410 2(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0787 0.0492 0.0891 0.1382 0.0381 0.0631 0.0889 0.0867 0.0861 0.0903 0.1087 0.0288 0.0488 0.235 0.0149 0.1258 0.0726 het 670.93 42 1 16892276 . TG T 670.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.459;DP=42;DS;FS=95.161;HRun=1;HaplotypeScore=398.5461;MQ=13.46;MQ0=154;MQRankSum=-5.006;QD=2.76;ReadPosRankSum=0.101;set=variant2 GT:AD:DP:GQ:PL 0/1:220,23:42:99:710,0,796 1 17087542 17087546 GTGCT - exonic MST1L frameshift deletion MST1L:NM_001271733:exon2:c.119_123del:p.Q40Pfs*17 . . . . . . 0.4409 0.4598 0.4695 0.4701 0.4653 0.4310 0.4317 0.4238 . . . . . rs56364660 COSM1317622;COSM1317623 3(haematopoietic_and_lymphoid_tissue);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3555 0.4646 0.3883 0.2176 0.4370 0.3943 0.3318 0.3245 0.2905 0.4837 0.4949 0.4904 0.4722 0.4967 0.4916 0.4726 0.4765 het 1171.99 152 1 17087541 . GGTGCT G 1171.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.327;DP=152;DS;FS=35.118;HRun=0;HaplotypeScore=853.6694;MQ=40.47;MQ0=6;MQRankSum=-4.137;QD=5.48;ReadPosRankSum=-3.075;set=variant2 GT:AD:DP:GQ:PL 0/1:142,72:152:99:1211,0,10568 1 17250836 17250836 A G exonic CROCC synonymous SNV CROCC:NM_014675:exon3:c.A213G:p.T71T . . . . . . 0.3367 0.3872 0.3081 0.4356 0.3474 0.3351 0.3485 0.2748 0.34 0.38 0.32 0.34 0.26 rs57174186 COSM424603 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3250 0.3789 0.3037 0.3157 0.4344 0.3249 0.3244 0.3360 0.2641 0.3442 0.3819 0.3195 0.2736 0.4394 0.3120 0.3236 0.3240 het 393.30 55 1 17250836 . A G 393.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.821;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.600;QD=7.15;ReadPosRankSum=0.493;VQSLOD=10.2539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,20:55:99:423,0,957 1 17265560 17265560 C T exonic CROCC nonsynonymous SNV CROCC:NM_014675:exon12:c.C1531T:p.P511S . . . . . . 0.3898 0.4256 0.3720 0.4628 0.4178 0.3852 0.4216 0.3465 . . . 0.26 0.11 rs9435793 COSM424610 1(haematopoietic_and_lymphoid_tissue);1(skin);7(thyroid);13(upper_aerodigestive_tract);9(large_intestine);4(central_nervous_system) . . . . . . . . . . . 0.217 0.191 T 0.007 0.384 B 0.013 0.416 B . . . 0.888 0.279 N 0.82 0.209 L 3.0 0.092 T 0.15 0.053 N 0.196 0.240 -0.958 0.397 T 0.000 0.000 T . . . 2.197 0.325 17.49 0.951 0.256 0.642 0.321 D c -0.186 0.002 0.980 0.300 0.731 0.878 0 4.42 0.526 1.342 0.333 0.931 0.441 0.816 0.297 0.924 0.398 8.338 0.312 . ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000268869.1|ENSG00000235241.1|ENSG00000238142.1 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.3461 0.4030 0.3260 0.3492 0.4453 0.3563 0.3404 0.3546 0.2954 0.3421 0.3812 0.3074 0.2945 0.4395 0.3098 0.3205 0.3219 het 109.82 12 1 17265560 . C T 109.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.678;DP=12;Dels=0.00;FS=6.264;HRun=0;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=-0.678;QD=9.15;ReadPosRankSum=-1.663;VQSLOD=3.2823;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,8:12:99:140,0,125 1 17266536 17266536 G C exonic CROCC nonsynonymous SNV CROCC:NM_014675:exon13:c.G1756C:p.D586H . . . . . . 0.2566 0.1719 0.2157 0.4145 0.2473 0.2537 0.3025 0.2611 . . . 0.13 0.057 rs9435714 COSM1747941 3(breast);1(haematopoietic_and_lymphoid_tissue);2(urinary_tract);2(thyroid);8(upper_aerodigestive_tract);4(large_intestine) . . . . . . . . . . . 0.005 0.632 D 0.999 0.899 D 0.964 0.715 D . . . 0.990 0.412 D 2.215 0.627 M 2.82 0.109 T -3.9 0.729 D 0.531 0.571 -0.955 0.402 T 0.000 0.000 T . . . 5.102 0.688 25.3 0.983 0.398 0.959 0.665 D c 0.559 0.485 0.448 0.205 0.757 0.989 0 4.08 0.467 7.569 0.816 1.048 0.713 1.000 0.715 0.580 0.285 11.879 0.517 . ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000058453.12|ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.2292 0.1382 0.1904 0.2707 0.4013 0.2114 0.2218 0.2373 0.2411 0.2107 0.1454 0.2039 0.2483 0.4185 0.2068 0.2248 0.2278 het 252.18 42 1 17266536 . G C 252.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.832;DP=42;Dels=0.00;FS=1.574;HRun=0;HaplotypeScore=0.9469;MQ=58.09;MQ0=0;MQRankSum=0.715;QD=6.00;ReadPosRankSum=-1.030;VQSLOD=3.3778;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,11:42:99:282,0,903 1 17295679 17295679 T C exonic CROCC synonymous SNV CROCC:NM_014675:exon32:c.T5145C:p.A1715A 0.94 0.99 0.95 0.97 0.89 0.91 0.9155 0.9821 0.9612 0.9653 0.9146 0.8959 0.9308 0.8955 0.93 0.98 0.9 0.96 0.72 rs4920574 COSM4143042 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9152 0.9827 0.9581 0.9093 0.9653 0.9033 0.8937 0.9123 0.8950 0.9223 0.9820 0.9451 0.9106 0.9710 0.8986 0.8882 0.9008 hom 819.03 24 1 17295679 . T C 819.03 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;QD=34.13;VQSLOD=9.8757;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:66.21:852,66,0 1 17297252 17297252 A C exonic CROCC nonsynonymous SNV CROCC:NM_014675:exon35:c.A5774C:p.Q1925P . . . . . . 0.0002 0.0001 9.009e-05 0 0 0.0004 0 0 0.0004 . 0.0006 . . rs140590876 . . . . . . . . . . . . . 0.015 0.524 D 0.998 0.764 D 0.99 0.774 D . . . 0.947 0.376 D 2.72 0.798 M 2.72 0.120 T -3.68 0.703 D 0.566 0.599 -1.024 0.225 T 0.092 0.351 T 0.022 0.453 T 3.020 0.423 22.3 0.990 0.499 0.706 0.344 D c 0.543 0.490 0.993 0.330 0.635 0.413 0 4.6 0.564 2.290 0.430 1.083 0.853 1.000 0.715 0.994 0.587 12.282 0.539 . . . 0.0003 6.786e-05 0.0001 0 0 9.689e-05 0.0005 0 7.819e-05 0.0003 0.0001 0 0 0 0.0003 0.0004 0 het 87.88 18 1 17297252 . A C 87.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.070;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5606;MQ=58.71;MQ0=0;MQRankSum=-0.394;QD=4.88;ReadPosRankSum=0.000;VQSLOD=2.6560;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,5:18:99:118,0,367 1 17301780 17301780 A G exonic MFAP2 synonymous SNV MFAP2:NM_001135247:exon8:c.T429C:p.H143H,MFAP2:NM_001135248:exon8:c.T429C:p.H143H,MFAP2:NM_002403:exon8:c.T432C:p.H144H,MFAP2:NM_017459:exon8:c.T432C:p.H144H 0.42 0.47 0.46 0.24 0.49 0.41 0.4427 0.4557 0.4797 0.2560 0.3895 0.4635 0.4473 0.4425 0.47 0.45 0.47 0.43 0.47 rs761422 COSM4417131 1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4460 0.4527 0.4859 0.4752 0.2586 0.3842 0.4724 0.4365 0.4461 0.4420 0.4433 0.4678 0.4868 0.2556 0.3793 0.4737 0.4424 het 424.66 45 1 17301780 . A G 424.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.796;DP=45;Dels=0.00;FS=2.704;HRun=0;HaplotypeScore=0.9469;MQ=58.55;MQ0=0;MQRankSum=1.054;QD=9.44;ReadPosRankSum=-0.197;VQSLOD=5.9954;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,18:45:99:455,0,672 1 17313343 17313343 G A exonic ATP13A2 synonymous SNV ATP13A2:NM_001141974:exon26:c.C3060T:p.A1020A,ATP13A2:NM_001141973:exon27:c.C3177T:p.A1059A,ATP13A2:NM_022089:exon27:c.C3192T:p.A1064A 0.34 0.14 0.46 0.26 0.51 0.43 0.4648 0.1973 0.4806 0.2930 0.4935 0.5210 0.4736 0.4700 0.42 0.21 0.52 0.26 0.55 rs9435659 COSM3747592;COSM3747591 3(liver);1(thyroid);1(large_intestine) Benign|Benign not_specified|Parkinson_disease_9 RCV000116442.2|RCV000309613.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1847640:606693:ORPHA306674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4669 0.1868 0.4792 0.4839 0.2913 0.4828 0.5224 0.4668 0.4729 0.4122 0.1849 0.4665 0.5132 0.2923 0.4822 0.5309 0.4898 het 785.93 47 1 17313343 . G A 785.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.829;DP=47;Dels=0.00;FS=4.422;HRun=0;HaplotypeScore=0.0000;MQ=56.47;MQ0=0;MQRankSum=2.119;QD=16.72;ReadPosRankSum=1.115;VQSLOD=2.5731;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,27:47:99:816,0,426 1 17313654 17313654 C T exonic ATP13A2 synonymous SNV ATP13A2:NM_001141974:exon25:c.G2838A:p.V946V,ATP13A2:NM_001141973:exon26:c.G2955A:p.V985V,ATP13A2:NM_022089:exon26:c.G2970A:p.V990V 0.35 0.17 0.46 0.25 0.51 0.43 0.4639 0.2236 0.4803 0.2894 0.4831 0.5174 0.4693 0.4688 0.43 0.24 0.52 0.23 0.54 rs761421 COSM3750608;COSM3750609 1(thyroid);1(large_intestine) Benign|Benign not_specified|Parkinson_disease_9 RCV000116439.2|RCV000360410.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1847640:606693:ORPHA306674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4670 0.2153 0.4798 0.4841 0.2851 0.4812 0.5201 0.4673 0.4729 0.4177 0.2127 0.4664 0.5132 0.2844 0.4814 0.5274 0.4877 het 593.16 50 1 17313654 . C T 593.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.290;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-2.590;QD=11.86;ReadPosRankSum=-0.910;VQSLOD=9.3893;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,24:50:99:623,0,682 1 17314942 17314942 G A exonic ATP13A2 synonymous SNV ATP13A2:NM_001141974:exon23:c.C2505T:p.G835G,ATP13A2:NM_001141973:exon24:c.C2622T:p.G874G,ATP13A2:NM_022089:exon24:c.C2637T:p.G879G 0.34 0.14 0.46 0.26 0.51 0.43 0.4590 0.1922 0.4754 0.2900 0.4779 0.5152 0.4635 0.4681 0.42 0.21 0.52 0.27 0.57 rs9435662 COSM3750612;COSM3750613 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Parkinson_disease_9 RCV000116435.2|RCV000331660.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1847640:606693:ORPHA306674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4650 0.1860 0.4781 0.4835 0.2909 0.4808 0.5192 0.4664 0.4726 0.4103 0.1853 0.4616 0.5133 0.2915 0.4808 0.5279 0.4866 het 2787.09 192 1 17314942 . G A 2787.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.800;DP=192;DS;Dels=0.00;FS=2.011;HRun=0;HaplotypeScore=3.6448;MQ=59.76;MQ0=0;MQRankSum=2.737;QD=14.52;ReadPosRankSum=0.084;VQSLOD=4.5543;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,113:192:99:2817,0,2062 1 17319011 17319011 G A exonic ATP13A2 synonymous SNV ATP13A2:NM_001141973:exon17:c.C1800T:p.P600P,ATP13A2:NM_001141974:exon17:c.C1800T:p.P600P,ATP13A2:NM_022089:exon17:c.C1815T:p.P605P 0.45 0.41 0.52 0.26 0.62 0.47 0.5540 0.4426 0.5381 0.2867 0.5433 0.6189 0.5640 0.5165 0.57 0.45 0.63 0.46 0.57 rs2076603 COSM3997075;COSM3997076 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Parkinson_disease_9 RCV000116434.2|RCV000299686.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1847640:606693:ORPHA306674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5576 0.4421 0.5458 0.6199 0.2882 0.5435 0.6259 0.5737 0.5186 0.5417 0.4381 0.5324 0.6367 0.2881 0.5424 0.6261 0.5675 hom 6970.57 240 1 17319011 . G A 6970.57 Mask AC=2;AF=1.00;AN=2;DP=240;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8940;MQ=58.96;MQ0=0;QD=29.04;VQSLOD=3.4517;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,240:240:99:6970,542,0 1 17380497 17380497 G T exonic SDHB synonymous SNV SDHB:NM_003000:exon1:c.C18A:p.A6A 0.96 0.88 0.98 1. 0.97 0.99 0.9721 0.9100 0.9875 0.9986 0.9812 0.9701 0.9789 0.9878 0.95 0.91 0.97 0.92 0.75 rs2746462 . . Benign|Benign|Benign|Benign not_specified|Hereditary_cancer-predisposing_syndrome|Paraganglioma_and_gastric_stromal_sarcoma|Pheochromocytoma RCV000037717.7|RCV000162442.1|RCV000262815.1|RCV000329603.1 MedGen|MedGen:SNOMED_CT|MedGen:OMIM:Orphanet|MedGen:OMIM CN169374|C0027672:699346009|C1847319:606864:ORPHA97286|C0031511:171300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9737 0.9123 0.9830 0.9540 0.9990 0.9790 0.9720 0.9670 0.9878 0.9577 0.9069 0.9690 0.9371 0.9994 0.9823 0.9755 0.9785 hom 804.36 32 1 17380497 . G T 804.36 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.286;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7077;MQ=59.28;MQ0=0;MQRankSum=1.455;QD=25.14;ReadPosRankSum=0.956;VQSLOD=5.6127;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,28:32:69.19:837,69,0 1 17396703 17396703 T C exonic PADI2 synonymous SNV PADI2:NM_007365:exon15:c.A1644G:p.L548L 0.44 0.31 0.54 0.39 0.59 0.47 0.5538 0.3768 0.5760 0.4075 0.5738 0.6085 0.5430 0.4979 0.53 0.39 0.6 0.37 0.67 rs2076595 COSM3750623 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5553 0.3716 0.5698 0.5461 0.4097 0.5920 0.6075 0.5600 0.4988 0.5313 0.3784 0.5203 0.5662 0.3830 0.6015 0.6160 0.5891 het 2698.59 232 1 17396703 . T C 2698.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.814;DP=232;DS;Dels=0.00;FS=1.628;HRun=1;HaplotypeScore=2.9294;MQ=58.88;MQ0=0;MQRankSum=-0.244;QD=11.63;ReadPosRankSum=0.788;VQSLOD=6.3571;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:129,103:232:99:2729,0,3402 1 17402255 17402255 C T exonic PADI2 synonymous SNV PADI2:NM_007365:exon12:c.G1374A:p.A458A 0.53 0.48 0.58 0.4 0.66 0.54 0.6133 0.5310 0.6212 0.4127 0.5890 0.6639 0.6233 0.5694 0.62 0.54 0.65 0.41 0.69 rs3818032 COSM3750624 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6126 0.5251 0.6184 0.6819 0.4154 0.6056 0.6593 0.6323 0.5704 0.6009 0.5335 0.5817 0.7053 0.3859 0.6155 0.6579 0.6145 hom 5347 171 1 17402255 . C T 5347 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6513;MQ=59.29;MQ0=0;QD=31.27;VQSLOD=7.3140;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,170:171:99:5346,433,0 1 17405809 17405809 G A exonic PADI2 synonymous SNV PADI2:NM_007365:exon11:c.C1260T:p.N420N 0.43 0.29 0.53 0.39 0.57 0.46 0.5377 0.3526 0.5738 0.4020 0.5455 0.5876 0.5430 0.4944 0.5 0.36 0.58 0.39 0.61 rs2057096 COSM3997079;COSM3750625 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5393 0.3484 0.5656 0.5258 0.4034 0.5644 0.5863 0.5449 0.4964 0.5083 0.3580 0.5156 0.5662 0.3708 0.5742 0.5902 0.5592 het 1840.23 140 1 17405809 . G A 1840.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.516;DP=140;Dels=0.00;FS=4.282;HRun=0;HaplotypeScore=6.9513;MQ=59.38;MQ0=0;MQRankSum=-1.237;QD=13.14;ReadPosRankSum=0.620;VQSLOD=4.3099;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,75:140:99:1870,0,1506 1 17550121 17550121 G A exonic PADI1 synonymous SNV PADI1:NM_013358:exon3:c.G279A:p.R93R 0.15 0.048 0.31 0.16 0.14 0.16 0.1662 0.0587 0.3570 0.1437 0.1334 0.1577 0.1391 0.1610 0.12 0.055 0.16 0.12 0.12 rs2293912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1749 0.0552 0.3525 0.1492 0.1483 0.1277 0.1580 0.1606 0.1617 0.1345 0.0514 0.3110 0.1325 0.1389 0.1334 0.1708 0.1673 het 1129.49 85 1 17550121 . G A 1129.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.560;DP=85;Dels=0.00;FS=13.853;HRun=0;HaplotypeScore=2.7979;MQ=58.25;MQ0=0;MQRankSum=1.313;QD=13.29;ReadPosRankSum=0.641;VQSLOD=3.7928;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,47:85:99:1159,0,899 1 17555508 17555508 G T exonic PADI1 synonymous SNV PADI1:NM_013358:exon8:c.G891T:p.T297T 0.21 0.18 0.19 0.059 0.35 0.29 0.3318 0.2453 0.2376 0.0814 0.3743 0.3750 0.3476 0.3445 0.28 0.21 0.32 0.18 0.16 rs2977234 COSM424650 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2682 0.1970 0.1730 0.2762 0.0502 0.3248 0.3167 0.2860 0.3220 0.2782 0.2173 0.2055 0.2947 0.0512 0.3359 0.3275 0.2953 het 282.58 27 1 17555508 . G T 282.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.854;DP=27;Dels=0.00;FS=5.734;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.073;QD=10.47;ReadPosRankSum=1.439;VQSLOD=5.0178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:313,0,401 1 17557133 17557133 A C exonic PADI1 synonymous SNV PADI1:NM_013358:exon10:c.A1120C:p.R374R 0.41 0.4 0.32 0.37 0.43 0.5 0.4193 0.4200 0.2639 0.3643 0.4492 0.4336 0.3790 0.4862 0.41 0.41 0.42 0.4 0.33 rs3003406 COSM146420 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4032 0.4119 0.2619 0.3867 0.3590 0.4424 0.4281 0.3851 0.4674 0.4219 0.4131 0.2804 0.4238 0.3998 0.4467 0.4320 0.4143 hom 609.16 24 1 17557133 . A C 609.16 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.38;VQSLOD=13.5756;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:51.15:642,51,0 1 17601165 17601165 C T exonic PADI3 synonymous SNV PADI3:NM_016233:exon11:c.C1191T:p.R397R 0.061 0.012 0.099 0.001 0.18 0.042 0.1219 0.0296 0.0592 0.0002 0.2032 0.1724 0.1217 0.0507 0.11 0.029 0.15 0.065 0.13 rs11585357 COSM3750634 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1210 0.0280 0.0652 0.1098 0.0002 0.2049 0.1720 0.1308 0.0514 0.1252 0.0301 0.0646 0.1291 0 0.2142 0.1738 0.1697 het 1686.38 126 1 17601165 . C T 1686.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.577;DP=126;Dels=0.00;FS=4.421;HRun=0;HaplotypeScore=2.7886;MQ=59.85;MQ0=0;MQRankSum=0.117;QD=13.38;ReadPosRankSum=-1.388;VQSLOD=5.5991;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,67:126:99:1716,0,1459 1 17657534 17657534 G A exonic PADI4 nonsynonymous SNV PADI4:NM_012387:exon2:c.G163A:p.G55S 0.52 0.45 0.54 0.56 0.58 0.52 0.5612 0.4751 0.5016 0.5836 0.5975 0.5877 0.5639 0.5238 0.55 0.48 0.58 0.39 0.56 rs11203366 COSM3746670 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.900 0.073 N 1 0.090 P -1.15 0.009 N 3.29 0.065 T 1.46 0.010 N 0.022 0.005 -0.912 0.466 T 0.000 0.000 T . . . -1.891 0.009 0.002 0.485 0.040 0.005 0.024 N c -2.090 -2.135 1.000 0.500 0.554 0.246 0 -10.9 0.002 -1.239 0.030 -1.964 0.005 0.000 0.063 0.000 0.016 4.291 0.102 Cupredoxin|Protein-arginine deiminase (PAD) N-terminal ENSG00000159339.9|ENSG00000159339.9|ENSG00000159339.9 Brain_Cortex|Brain_Frontal_Cortex_BA9|Lung 0.5593 0.4690 0.5007 0.5960 0.5763 0.5905 0.5861 0.5702 0.5221 0.5579 0.4784 0.5489 0.5867 0.5989 0.5854 0.5918 0.5786 het 1231.64 100 1 17657534 . G A 1231.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.871;DP=100;Dels=0.00;FS=2.683;HRun=0;HaplotypeScore=5.9130;MQ=59.19;MQ0=0;MQRankSum=0.406;QD=12.32;ReadPosRankSum=-1.162;VQSLOD=4.9922;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:55,45:100:99:1262,0,1357 1 17657616 17657616 T C exonic PADI4 nonsynonymous SNV PADI4:NM_012387:exon2:c.T245C:p.V82A 0.53 0.48 0.55 0.56 0.57 0.52 0.5641 0.4996 0.5030 0.5837 0.5976 0.5878 0.5653 0.5279 0.55 0.51 0.58 0.41 0.55 rs11203367 COSM3746671 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 1.0 0.030 T 0.0 0.026 B 0.0 0.013 B 0.173 0.173 N 1 0.090 P -2.405 0.001 N 3.24 0.069 T 2.3 0.004 N 0.011 0.002 -0.959 0.394 T 0.000 0.000 T . . . -1.269 0.023 0.005 0.260 0.012 0.001 0.005 N c -1.343 -1.171 0.068 0.154 0.549 0.223 0 4.66 0.577 1.251 0.322 0.069 0.176 0.070 0.219 0.007 0.100 9.012 0.351 Cupredoxin|Protein-arginine deiminase (PAD) N-terminal ENSG00000159339.9|ENSG00000159339.9|ENSG00000159339.9 Brain_Cortex|Brain_Frontal_Cortex_BA9|Lung 0.5619 0.4966 0.5021 0.5968 0.5777 0.5903 0.5862 0.5722 0.5270 0.5648 0.5040 0.5489 0.5894 0.5979 0.5853 0.5913 0.5792 het 721.43 75 1 17657616 . T C 721.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.325;DP=75;Dels=0.00;FS=0.904;HRun=0;HaplotypeScore=5.4511;MQ=59.17;MQ0=0;MQRankSum=1.779;QD=9.62;ReadPosRankSum=1.173;VQSLOD=4.8413;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,30:75:99:751,0,1183 1 17660499 17660499 G C exonic PADI4 nonsynonymous SNV PADI4:NM_012387:exon3:c.G335C:p.G112A 0.52 0.46 0.54 0.56 0.55 0.52 0.5462 0.4786 0.4969 0.5812 0.5648 0.5644 0.5463 0.5242 0.53 0.49 0.55 0.39 0.52 rs874881 COSM3746672 1(bone);1(haematopoietic_and_lymphoid_tissue);2(liver) . . . . . . . . . . . 0.821 0.054 T 0.639 0.385 P 0.19 0.347 B 0.001 0.436 D 0.290 0.335 P 1.715 0.445 L 3.16 0.077 T -2.94 0.614 D 0.191 0.360 -1.027 0.214 T 0.000 0.000 T . . . 1.496 0.242 13.29 0.861 0.158 0.793 0.390 D c 0.016 0.108 0.905 0.262 0.487 0.133 0 4.74 0.596 3.695 0.542 0.948 0.535 0.912 0.315 0.975 0.474 13.600 0.613 Cupredoxin ENSG00000159339.9|ENSG00000159339.9|ENSG00000159339.9 Brain_Cortex|Brain_Frontal_Cortex_BA9|Lung 0.5454 0.4767 0.4979 0.5775 0.5780 0.5587 0.5637 0.5545 0.5252 0.5399 0.4802 0.5432 0.5733 0.5962 0.5567 0.5624 0.5602 het 1367.51 119 1 17660499 . G C 1367.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.510;DP=119;Dels=0.00;FS=0.700;HRun=0;HaplotypeScore=2.6287;MQ=59.65;MQ0=0;MQRankSum=-0.683;QD=11.49;ReadPosRankSum=0.481;VQSLOD=6.1207;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,60:119:99:1398,0,1624 1 17662662 17662662 T C exonic PADI4 synonymous SNV PADI4:NM_012387:exon4:c.T349C:p.L117L 0.59 0.54 0.58 0.62 0.66 0.57 0.6373 0.5738 0.5278 0.6332 0.6863 0.6778 0.6192 0.5738 0.64 0.58 0.66 0.47 0.62 rs1748033 COSM3746673 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6326 0.5702 0.5325 0.6537 0.6276 0.6817 0.6768 0.6332 0.5731 0.6488 0.5772 0.5839 0.6424 0.6450 0.6718 0.6882 0.6639 het 503.14 54 1 17662662 . T C 503.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.475;DP=54;Dels=0.00;FS=2.509;HRun=2;HaplotypeScore=3.9897;MQ=58.02;MQ0=0;MQRankSum=-0.188;QD=9.32;ReadPosRankSum=-0.116;VQSLOD=4.9379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,20:54:99:533,0,935 1 17674537 17674537 C A exonic PADI4 synonymous SNV PADI4:NM_012387:exon10:c.C1149A:p.R383R 0.42 0.35 0.41 0.56 0.35 0.45 0.3895 0.3722 0.4149 0.5867 0.3462 0.3545 0.3794 0.4389 0.36 0.37 0.35 0.25 0.3 rs2240335 COSM4143062 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3887 0.3731 0.4123 0.4147 0.5831 0.3361 0.3493 0.3779 0.4369 0.3668 0.3711 0.4475 0.3907 0.6046 0.3339 0.3409 0.3709 het 804.19 91 1 17674537 . C A 804.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.722;DP=91;Dels=0.00;FS=0.878;HRun=0;HaplotypeScore=2.1101;MQ=59.18;MQ0=0;MQRankSum=0.235;QD=8.84;ReadPosRankSum=1.964;VQSLOD=5.9461;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,36:91:99:834,0,1401 1 17739586 17739586 G A exonic RCC2 synonymous SNV RCC2:NM_001136204:exon9:c.C1296T:p.I432I,RCC2:NM_018715:exon10:c.C1296T:p.I432I 0.33 0.37 0.37 0.16 0.37 0.39 0.3577 0.3934 0.3412 0.1624 0.4101 0.3635 0.34 0.4055 0.36 0.39 0.35 0.23 0.25 rs942457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3534 0.3883 0.3475 0.2454 0.1651 0.4060 0.3660 0.3314 0.4030 0.3683 0.3899 0.3505 0.2748 0.1741 0.4084 0.3688 0.3924 het 745.94 65 1 17739586 . G A 745.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.647;DP=65;Dels=0.00;FS=3.459;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.136;QD=11.48;ReadPosRankSum=0.085;VQSLOD=6.3027;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,31:65:99:776,0,850 1 17991052 17991052 T C exonic ARHGEF10L nonsynonymous SNV ARHGEF10L:NM_001319838:exon15:c.T2080C:p.W694R,ARHGEF10L:NM_001328124:exon18:c.T2305C:p.W769R,ARHGEF10L:NM_001319837:exon23:c.T2839C:p.W947R,ARHGEF10L:NM_001011722:exon24:c.T2854C:p.W952R,ARHGEF10L:NM_018125:exon26:c.T2971C:p.W991R 1. 1. 1. 1. 1. 1. 1.0000 0.9995 1 1 1 1 1 1 1. 1. 1. 1. 0.97 rs6695710 COSM4143083;COSM4143084;COSM4143082 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9992 0.9999 0.9999 1 0.9996 0.9999 0.9998 1.0000 0.9999 0.9997 1 1 1 1 1 1 hom 987.92 33 1 17991052 . T C 987.92 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8321;MQ=58.15;MQ0=0;QD=29.94;VQSLOD=7.8664;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:81.24:1021,81,0 1 18023365 18023365 C T exonic ARHGEF10L synonymous SNV ARHGEF10L:NM_001319838:exon18:c.C2439T:p.N813N,ARHGEF10L:NM_001328124:exon21:c.C2664T:p.N888N,ARHGEF10L:NM_001319837:exon26:c.C3198T:p.N1066N,ARHGEF10L:NM_001011722:exon27:c.C3213T:p.N1071N,ARHGEF10L:NM_018125:exon29:c.C3330T:p.N1110N 0.78 0.59 0.87 0.84 0.82 0.91 0.8169 0.6268 0.8969 0.8160 0.7810 0.8202 0.8467 0.8946 0.76 0.63 0.83 0.73 0.84 rs2270978 COSM3750657;COSM3750656;COSM3750658 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8223 0.6202 0.8898 0.8464 0.8184 0.7846 0.8207 0.8386 0.8920 0.7625 0.6163 0.8831 0.8808 0.8337 0.7785 0.8245 0.8 hom 1981.48 68 1 18023365 . C T 1981.48 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=58.98;MQ0=0;QD=29.14;VQSLOD=9.0940;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2014,156,0 1 18023509 18023509 T C exonic ARHGEF10L synonymous SNV ARHGEF10L:NM_001319838:exon18:c.T2583C:p.D861D,ARHGEF10L:NM_001328124:exon21:c.T2808C:p.D936D,ARHGEF10L:NM_001319837:exon26:c.T3342C:p.D1114D,ARHGEF10L:NM_001011722:exon27:c.T3357C:p.D1119D,ARHGEF10L:NM_018125:exon29:c.T3474C:p.D1158D 0.83 0.72 0.88 0.9 0.82 0.91 0.8351 0.7444 0.9004 0.8931 0.7815 0.8194 0.8527 0.8920 0.81 0.76 0.83 0.74 0.6 rs2270977 COSM3750661;COSM3750660;COSM3750659 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8387 0.7405 0.8962 0.8506 0.8947 0.7819 0.8195 0.8455 0.8929 0.8031 0.7421 0.8911 0.8841 0.9036 0.7806 0.8260 0.8102 hom 1060.31 32 1 18023509 . T C 1060.31 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.95;MQ0=0;QD=33.13;VQSLOD=8.4404;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:87.27:1093,87,0 1 18023690 18023690 A G exonic ARHGEF10L nonsynonymous SNV ARHGEF10L:NM_001319838:exon18:c.A2764G:p.I922V,ARHGEF10L:NM_001328124:exon21:c.A2989G:p.I997V,ARHGEF10L:NM_001319837:exon26:c.A3523G:p.I1175V,ARHGEF10L:NM_001011722:exon27:c.A3538G:p.I1180V,ARHGEF10L:NM_018125:exon29:c.A3655G:p.I1219V 0.82 0.67 0.87 0.9 0.82 0.92 0.8355 0.7006 0.9020 0.8953 0.7883 0.8238 0.8561 0.8947 0.8 0.71 0.84 0.48 0.69 rs2270976 COSM3750662;COSM3750664;COSM3750663 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.018 0.276 N 1 0.090 P -1.195 0.008 N 0.63 0.580 T 0.26 0.044 N 0.02 0.004 -0.952 0.407 T 0.000 0.000 T . . . 0.292 0.122 5.618 0.702 0.089 0.021 0.061 N c -0.971 -0.769 0.370 0.199 0.632 0.408 0 2.98 0.334 1.226 0.320 0.073 0.181 0.841 0.301 0.996 0.625 7.746 0.279 . . . 0.8387 0.6957 0.8960 0.8499 0.8950 0.7852 0.8242 0.8462 0.8960 0.7914 0.6948 0.8878 0.8841 0.9036 0.7818 0.8293 0.8078 hom 1223.16 39 1 18023690 . A G 1223.16 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=31.36;VQSLOD=9.5518;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1256,111,0 1 18149510 18149510 G T exonic ACTL8 nonsynonymous SNV ACTL8:NM_030812:exon2:c.G7T:p.A3S 0.31 0.14 0.32 0.43 0.44 0.25 0.3921 0.2029 0.3192 0.4187 0.5284 0.4430 0.4066 0.2816 0.35 0.2 0.42 0.25 0.4 rs694214 COSM3746686 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.164 0.233 T 0.004 0.112 B 0.008 0.127 B 0.426 0.047 N 1 0.090 P -0.2 0.042 N -3.46 0.945 D -0.23 0.107 N 0.073 0.062 -1.017 0.247 T 0.000 0.000 T . . . -1.302 0.022 0.004 0.880 0.171 0.113 0.164 N c -1.276 -1.338 0.000 0.041 0.554 0.283 0 -3.42 0.045 0.210 0.171 -0.465 0.055 0.000 0.063 0.052 0.166 3.746 0.080 . . . 0.3889 0.1977 0.3176 0.4680 0.4263 0.5170 0.4302 0.4047 0.2721 0.3735 0.1932 0.3341 0.4667 0.4440 0.5046 0.4364 0.4367 het 740.31 69 1 18149510 . G T 740.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.818;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9977;MQ=59.67;MQ0=0;MQRankSum=-0.682;QD=10.73;ReadPosRankSum=0.043;VQSLOD=6.4687;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,27:69:99:770,0,1307 1 18149566 18149566 C A exonic ACTL8 synonymous SNV ACTL8:NM_030812:exon2:c.C63A:p.G21G 0.48 0.32 0.58 0.69 0.47 0.43 0.4969 0.3488 0.6865 0.6575 0.5808 0.4792 0.4912 0.4116 0.42 0.34 0.46 0.43 0.43 rs2296035 COSM3746687 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5095 0.3508 0.6786 0.5444 0.6674 0.5726 0.4664 0.5009 0.4161 0.4630 0.3370 0.6391 0.5633 0.6689 0.5633 0.4756 0.5143 het 1326.18 119 1 18149566 . C A 1326.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.889;DP=119;Dels=0.00;FS=3.897;HRun=0;HaplotypeScore=4.1893;MQ=59.30;MQ0=0;MQRankSum=-0.088;QD=11.14;ReadPosRankSum=0.019;VQSLOD=5.5784;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,53:119:99:1356,0,1948 1 18807897 18807897 C G exonic KLHDC7A nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.C422G:p.P141R 0.65 0.57 0.71 0.9 0.61 0.48 0.6493 0.5786 0.8126 0.8993 0.6345 0.6326 0.6512 0.5159 0.62 0.6 0.63 0.59 0.64 rs2992755 COSM1742560 1(urinary_tract) . . . . . . . . . . . 0.482 0.082 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N -0.68 0.726 T 0.32 0.040 N 0.037 0.017 -1.015 0.253 T 0.000 0.000 T . . . -0.317 0.067 0.607 0.758 0.109 0.010 0.037 N c -1.400 -1.365 1.000 0.407 0.545 0.220 0 1.18 0.200 0.014 0.131 -1.654 0.008 0.000 0.063 0.000 0.016 5.254 0.148 . ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7 Adipose_Subcutaneous|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6583 0.5810 0.8040 0.6972 0.8954 0.6454 0.6290 0.6618 0.5068 0.6361 0.5783 0.7673 0.6391 0.8776 0.6431 0.6339 0.6439 hom 1814.17 58 1 18807897 . C G 1814.17 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=31.28;VQSLOD=8.9509;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1847,159,0 1 18807953 18807953 C A exonic KLHDC7A nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.C478A:p.R160S 0.28 0.25 0.34 0.23 0.36 0.24 0.3362 0.2715 0.3790 0.2293 0.3699 0.3689 0.3650 0.2535 0.32 0.25 0.35 0.27 0.46 rs11261022 COSM3750705 1(haematopoietic_and_lymphoid_tissue);2(large_intestine);1(central_nervous_system) . . . . . . . . . . . 0.724 0.039 T 0.026 0.181 B 0.008 0.127 B 0.550 0.054 U 1 0.090 P 0.69 0.170 N -0.62 0.719 T 0.34 0.038 N 0.033 0.013 -1.049 0.146 T 0.000 0.000 T . . . -0.191 0.077 1.144 0.886 0.176 0.051 0.108 N c -1.576 -1.611 1.000 0.473 0.387 0.051 2 -3.99 0.038 -4.109 0.003 -1.000 0.022 0.000 0.063 0.001 0.043 2.446 0.042 . ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7 Lung|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3386 0.2719 0.3695 0.3951 0.2279 0.3720 0.3661 0.3703 0.2528 0.3286 0.2668 0.3657 0.3907 0.2292 0.3786 0.3580 0.3635 hom 2830.55 88 1 18807953 . C A 2830.55 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9962;MQ=58.65;MQ0=0;QD=32.17;VQSLOD=8.8923;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2864,226,0 1 18808292 18808292 C A exonic KLHDC7A nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.C817A:p.H273N 0.67 0.66 0.73 0.9 0.61 0.48 0.6539 0.6651 0.8149 0.8996 0.6345 0.6310 0.6582 0.5053 0.64 0.67 0.63 0.62 0.63 rs2992753 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.182 0.171 N 1 0.090 P -2.135 0.001 N -0.31 0.680 T 1.5 0.007 N 0.012 0.001 -0.948 0.413 T 0.000 0.000 T . . . 0.181 0.111 4.482 0.296 0.016 0.041 0.094 N c -1.052 -0.824 1.000 0.434 0.487 0.133 0 4.92 0.640 3.380 0.519 0.125 0.212 0.918 0.317 0.947 0.422 10.544 0.440 . ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7 Adipose_Subcutaneous|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6638 0.6700 0.8076 0.6959 0.8954 0.6439 0.6283 0.6655 0.5068 0.6624 0.6702 0.7745 0.6391 0.8781 0.6420 0.6345 0.6469 hom 5402.15 169 1 18808292 . C A 5402.15 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7591;MQ=59.46;MQ0=0;QD=31.97;VQSLOD=8.8115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5402,436,0 1 18808465 18808465 T A exonic KLHDC7A synonymous SNV KLHDC7A:NM_152375:exon1:c.T990A:p.A330A 0.67 0.66 0.73 0.89 0.61 0.48 0.6557 0.6701 0.8170 0.8988 0.6397 0.6324 0.6540 0.5058 0.64 0.66 0.63 0.62 0.58 rs3007718 COSM3722302 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6646 0.6721 0.8079 0.6961 0.8950 0.6445 0.6288 0.6642 0.5065 0.6621 0.6699 0.7745 0.6367 0.8782 0.6418 0.6340 0.6459 hom 1096.55 36 1 18808465 . T A 1096.55 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2859;MQ=58.71;MQ0=0;QD=30.46;VQSLOD=8.4087;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:36:93.28:1130,93,0 1 18808526 18808526 A C exonic KLHDC7A nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.A1051C:p.T351P 0.67 0.66 0.73 0.89 0.61 0.48 0.6552 0.6690 0.8169 0.8983 0.6390 0.6318 0.6519 0.5065 0.64 0.66 0.63 0.64 0.59 rs2992752 COSM424852 4(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.496 0.051 N 1 0.090 P -2.005 0.002 N -0.57 0.713 T 2.23 0.003 N 0.053 0.035 -0.969 0.374 T 0.000 0.000 T . . . -2.153 0.006 0.001 0.086 0.001 0.021 0.062 N c -1.876 -1.772 1.000 0.409 0.487 0.133 0 0.69 0.171 -0.725 0.050 -0.975 0.023 0.000 0.063 0.000 0.016 3.866 0.085 . ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7 Adipose_Subcutaneous|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6640 0.6707 0.8079 0.6961 0.8947 0.6435 0.6277 0.6648 0.5071 0.6622 0.6704 0.7763 0.6391 0.8778 0.6421 0.6339 0.6469 hom 1150.74 35 1 18808526 . A C 1150.74 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=32.88;VQSLOD=9.1507;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:93.29:1184,93,0 1 19175846 19175846 T C exonic TAS1R2 nonsynonymous SNV TAS1R2:NM_152232:exon4:c.A1456G:p.I486V 0.13 0.14 0.24 0.002 0.21 0.07 0.1755 0.1441 0.2150 0.0020 0.2462 0.2069 0.1938 0.1028 0.19 0.15 0.21 0.15 0.19 rs28374389 COSM4986357 8(soft_tissue);1(pancreas) . . . . . . . . . . . 0.276 0.157 T 0.0 0.026 B 0.0 0.013 B 0.168 0.174 N 1 0.090 P 0.69 0.170 N -2.34 0.880 D 0.49 0.030 N 0.014 0.002 -1.105 0.035 T 0.000 0.000 T . . . -0.985 0.033 0.017 0.585 0.059 0.015 0.048 N c -1.387 -1.388 0.000 0.055 0.497 0.185 0 -1.92 0.072 -0.517 0.063 -0.954 0.024 0.000 0.063 0.885 0.372 9.840 0.400 . . . 0.1799 0.1460 0.2092 0.1954 0.0020 0.2517 0.2079 0.1870 0.1067 0.1933 0.1423 0.2315 0.1887 0.0018 0.2556 0.2263 0.2086 het 967.14 66 1 19175846 . T C 967.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.344;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5757;MQ=59.05;MQ0=0;MQRankSum=0.439;QD=14.65;ReadPosRankSum=-0.401;VQSLOD=6.2664;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,37:66:99:997,0,748 1 19186129 19186129 G C exonic TAS1R2 nonsynonymous SNV TAS1R2:NM_152232:exon1:c.C26G:p.S9C 0.8 0.82 0.84 0.77 0.78 0.78 0.7804 0.8181 0.8332 0.7517 0.7009 0.7755 0.75 0.7880 0.79 0.83 0.77 0.87 0.75 rs9701796 COSM3746703 1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.675 0.000 N -2.47 0.890 D 2.02 0.004 N 0.061 0.045 -0.963 0.387 T 0.000 0.000 T . . . -2.170 0.006 0.001 0.564 0.054 0.002 0.010 N c -1.595 -1.511 0.000 0.029 0.447 0.083 0 1.14 0.197 -0.020 0.124 -0.478 0.053 0.000 0.063 0.004 0.083 8.487 0.321 . . . 0.7815 0.8159 0.8301 0.8186 0.7566 0.6902 0.7785 0.7886 0.7890 0.7696 0.8202 0.8270 0.7815 0.7550 0.6887 0.7591 0.7393 hom 3656.48 110 1 19186129 . G C 3656.48 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4787;MQ=58.95;MQ0=0;QD=33.24;VQSLOD=8.6540;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3656,280,0 1 19201956 19201956 A G exonic ALDH4A1 synonymous SNV ALDH4A1:NM_001319218:exon12:c.T1227C:p.D409D,ALDH4A1:NM_001161504:exon13:c.T1200C:p.D400D,ALDH4A1:NM_003748:exon13:c.T1380C:p.D460D,ALDH4A1:NM_170726:exon13:c.T1380C:p.D460D 0.74 0.7 0.81 0.71 0.74 0.76 0.7298 0.6894 0.8260 0.7163 0.6986 0.7175 0.7208 0.7575 0.7 0.68 0.71 0.72 0.64 rs2230708 . . Benign Hyperprolinemia RCV000316598.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7323 0.6882 0.8184 0.7179 0.7132 0.6822 0.7192 0.7393 0.7578 0.6951 0.6823 0.7959 0.6987 0.7140 0.6725 0.6993 0.7070 het 1361.92 142 1 19201956 . A G 1361.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.512;DP=142;Dels=0.00;FS=3.122;HRun=0;HaplotypeScore=4.1164;MQ=59.40;MQ0=0;MQRankSum=0.954;QD=9.59;ReadPosRankSum=-0.230;VQSLOD=5.3178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,57:142:99:1392,0,2382 1 19202896 19202896 G A exonic ALDH4A1 synonymous SNV ALDH4A1:NM_001161504:exon12:c.C1071T:p.A357A,ALDH4A1:NM_003748:exon12:c.C1251T:p.A417A,ALDH4A1:NM_170726:exon12:c.C1251T:p.A417A 0.52 0.46 0.65 0.6 0.45 0.49 0.5069 0.4468 0.7109 0.6211 0.4430 0.4738 0.5056 0.5007 0.45 0.44 0.46 0.51 0.24 rs2230707 COSM4143136;COSM4143135 1(thyroid);1(large_intestine) Likely benign Hyperprolinemia RCV000295896.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5110 0.4397 0.6940 0.4964 0.6119 0.4345 0.4696 0.5110 0.4988 0.4583 0.4380 0.6468 0.4967 0.6035 0.4390 0.4470 0.4682 het 1095.72 67 1 19202896 . G A 1095.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.082;DP=67;Dels=0.00;FS=2.508;HRun=0;HaplotypeScore=4.5456;MQ=58.96;MQ0=0;MQRankSum=1.500;QD=16.35;ReadPosRankSum=-0.563;VQSLOD=4.8755;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,38:67:99:1126,0,857 1 19202917 19202917 T C exonic ALDH4A1 synonymous SNV ALDH4A1:NM_001161504:exon12:c.A1050G:p.S350S,ALDH4A1:NM_003748:exon12:c.A1230G:p.S410S,ALDH4A1:NM_170726:exon12:c.A1230G:p.S410S 0.66 0.47 0.77 0.71 0.71 0.74 0.7024 0.5050 0.8090 0.7275 0.6789 0.7011 0.6974 0.7487 0.62 0.48 0.69 0.56 0.37 rs7550938 COSM1337325;COSM1337326 1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) Benign Hyperprolinemia RCV000350845.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6990 0.4836 0.7950 0.6881 0.7146 0.6512 0.6943 0.7086 0.7419 0.6232 0.4823 0.7632 0.66 0.7148 0.6503 0.6768 0.6784 het 505.98 45 1 19202917 . T C 505.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.478;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3901;MQ=58.97;MQ0=0;MQRankSum=0.114;QD=11.24;ReadPosRankSum=0.419;VQSLOD=5.2918;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,25:45:99:536,0,470 1 19202926 19202926 T C exonic ALDH4A1 synonymous SNV ALDH4A1:NM_001161504:exon12:c.A1041G:p.A347A,ALDH4A1:NM_003748:exon12:c.A1221G:p.A407A,ALDH4A1:NM_170726:exon12:c.A1221G:p.A407A 0.66 0.47 0.77 0.7 0.71 0.74 0.7061 0.5095 0.8123 0.7310 0.6821 0.7043 0.6975 0.7509 0.62 0.48 0.69 0.58 0.26 rs2230706 COSM1337328;COSM1337327 1(kidney);1(thyroid) Benign Hyperprolinemia RCV000397654.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6985 0.4825 0.7944 0.6896 0.7132 0.6489 0.6930 0.7087 0.7421 0.6223 0.4818 0.7620 0.66 0.7137 0.6503 0.6756 0.6776 het 390.06 33 1 19202926 . T C 390.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.264;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5506;MQ=59.30;MQ0=0;MQRankSum=1.246;QD=11.82;ReadPosRankSum=1.246;VQSLOD=4.2394;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:420,0,314 1 19203997 19203997 C G exonic ALDH4A1 synonymous SNV ALDH4A1:NM_001161504:exon10:c.G870C:p.A290A,ALDH4A1:NM_001319218:exon10:c.G1050C:p.A350A,ALDH4A1:NM_003748:exon10:c.G1050C:p.A350A,ALDH4A1:NM_170726:exon10:c.G1050C:p.A350A 0.64 0.73 0.74 0.47 0.71 0.56 0.7072 0.7378 0.7631 0.5004 0.8077 0.7353 0.7132 0.6051 0.71 0.72 0.71 0.69 0.66 rs2230705 COSM424869;COSM1473186 1(breast);2(thyroid);1(large_intestine) Benign Hyperprolinemia RCV000267887.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6899 0.7223 0.7466 0.6149 0.4518 0.8004 0.7184 0.7007 0.5899 0.7197 0.7211 0.7279 0.6159 0.4439 0.7994 0.7301 0.7474 het 363.05 34 1 19203997 . C G 363.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.107;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.090;QD=10.68;ReadPosRankSum=0.702;VQSLOD=12.0030;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,17:34:99:393,0,490 1 19411129 19411129 A G exonic UBR4 synonymous SNV UBR4:NM_020765:exon102:c.T14877C:p.H4959H 0.72 0.84 0.73 0.81 0.61 0.57 0.6447 0.8051 0.8129 0.8122 0.5252 0.6036 0.5773 0.5557 0.67 0.81 0.6 0.71 0.6 rs1043905 COSM3750714;COSM5827644;COSM4783669;COSM3750713 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6450 0.8033 0.7925 0.5685 0.8142 0.5235 0.6106 0.6202 0.5523 0.6701 0.8088 0.7883 0.57 0.7974 0.5284 0.6081 0.6063 het 1303.69 103 1 19411129 . A G 1303.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.386;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;MQRankSum=0.736;QD=12.66;ReadPosRankSum=0.300;VQSLOD=7.2795;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,50:103:99:1334,0,1491 1 19413261 19413261 T A exonic UBR4 nonsynonymous SNV UBR4:NM_020765:exon100:c.A14599T:p.M4867L 0.6 0.54 0.68 0.76 0.58 0.49 0.5830 0.5470 0.7738 0.7618 0.5058 0.5674 0.5365 0.4748 0.56 0.55 0.57 0.61 0.54 rs12584 COSM5827646;COSM3750715;COSM3750716;COSM4783674 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.163 0.234 T 0.0 0.026 B 0.0 0.013 B 0.001 0.437 N 0.751 0.296 P -0.345 0.033 N 1.64 0.278 T -0.11 0.087 N 0.045 0.071 -1.040 0.172 T 0.000 0.000 T . . . 2.334 0.342 18.39 0.875 0.167 0.751 0.365 D c -0.628 -0.417 0.965 0.288 0.707 0.730 0 0.893 0.183 2.611 0.458 0.964 0.580 1.000 0.715 1.000 0.888 5.268 0.148 . ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid 0.5888 0.5405 0.7552 0.5501 0.7636 0.5018 0.5726 0.5718 0.4707 0.5690 0.5376 0.7326 0.5497 0.7478 0.5057 0.5750 0.5520 het 669.01 61 1 19413261 . T A 669.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.410;DP=61;Dels=0.00;FS=0.982;HRun=1;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=-1.126;QD=10.97;ReadPosRankSum=-1.141;VQSLOD=5.0809;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,27:61:99:699,0,898 1 19415304 19415304 C T exonic UBR4 synonymous SNV UBR4:NM_020765:exon98:c.G14379A:p.K4793K 0.59 0.51 0.68 0.76 0.58 0.48 0.5807 0.5249 0.7729 0.7607 0.5059 0.5671 0.5341 0.4744 0.55 0.53 0.57 0.61 0.54 rs1043899 COSM3750718;COSM3750717;COSM5827648;COSM4783648 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5871 0.5187 0.7545 0.5498 0.7622 0.5019 0.5724 0.5715 0.4703 0.5611 0.5116 0.7314 0.5430 0.7450 0.5057 0.5743 0.5532 het 1182.18 108 1 19415304 . C T 1182.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.561;DP=108;Dels=0.00;FS=6.260;HRun=2;HaplotypeScore=2.8100;MQ=59.77;MQ0=0;MQRankSum=0.730;QD=10.95;ReadPosRankSum=-0.280;VQSLOD=5.1060;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,50:108:99:1212,0,1681 1 19433449 19433449 A G exonic UBR4 synonymous SNV UBR4:NM_020765:exon82:c.T12117C:p.V4039V 0.72 0.84 0.73 0.81 0.61 0.57 0.6461 0.8057 0.8138 0.8107 0.5322 0.6048 0.5766 0.5574 0.67 0.81 0.6 0.7 0.6 rs6426677 COSM4783664;COSM3750719;COSM3750720;COSM5827655 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6452 0.8027 0.7925 0.5715 0.8143 0.5236 0.6104 0.6202 0.5529 0.6702 0.8089 0.7902 0.5695 0.8015 0.5284 0.6078 0.6066 het 517.01 46 1 19433449 . A G 517.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.125;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6421;MQ=60.00;MQ0=0;MQRankSum=-0.221;QD=11.24;ReadPosRankSum=0.287;VQSLOD=6.1963;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,21:46:99:547,0,741 1 19447843 19447843 C G exonic UBR4 synonymous SNV UBR4:NM_020765:exon68:c.G9981C:p.L3327L 0.6 0.54 0.68 0.76 0.58 0.48 0.5831 0.5492 0.7736 0.7611 0.5056 0.5682 0.5366 0.4715 0.56 0.55 0.57 0.62 0.47 rs1044010 COSM5827658;COSM4783706;COSM3750721;COSM1337405 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5888 0.5422 0.7551 0.5497 0.7631 0.5019 0.5733 0.5718 0.4673 0.5701 0.5401 0.7321 0.5497 0.7488 0.5077 0.5752 0.5553 het 1516.41 112 1 19447843 . C G 1516.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.640;DP=112;Dels=0.00;FS=8.855;HRun=0;HaplotypeScore=3.5553;MQ=58.63;MQ0=0;MQRankSum=0.017;QD=13.54;ReadPosRankSum=0.320;VQSLOD=4.5542;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1546,0,1685 1 19499560 19499560 T C exonic UBR4 nonsynonymous SNV UBR4:NM_020765:exon25:c.A3319G:p.T1107A 0.14 0.28 0.17 0.011 0.16 0.031 0.1445 0.2545 0.2150 0.0087 0.1192 0.1586 0.1509 0.0496 0.19 0.25 0.16 0.18 0.16 rs16862578 COSM4778190;COSM146428;COSM4778191;COSM3927619 1(stomach);6(prostate) . . . . . . . . . . . 0.13 0.267 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 0.301 0.334 P 0.55 0.145 N 0.96 0.429 T -0.65 0.189 N 0.077 0.134 -1.025 0.221 T 0.000 0.000 T . . . 0.545 0.146 7.768 0.988 0.458 0.977 0.762 D c -0.257 -0.013 0.954 0.281 0.707 0.730 0 4.82 0.615 4.706 0.613 1.061 0.807 1.000 0.715 0.995 0.604 6.841 0.230 . ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Testis 0.1464 0.2508 0.2107 0.2157 0.0080 0.1234 0.1580 0.1588 0.0524 0.1745 0.2559 0.2208 0.2285 0.0068 0.1180 0.1567 0.1446 het 1344.99 91 1 19499560 . T C 1344.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.101;DP=91;Dels=0.00;FS=0.783;HRun=0;HaplotypeScore=1.7219;MQ=58.92;MQ0=0;MQRankSum=1.991;QD=14.78;ReadPosRankSum=-0.266;VQSLOD=6.0240;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,48:91:99:1375,0,1103 1 19566881 19566881 C T exonic EMC1 synonymous SNV EMC1:NM_001271429:exon6:c.G630A:p.E210E,EMC1:NM_001271427:exon7:c.G696A:p.E232E,EMC1:NM_001271428:exon7:c.G696A:p.E232E,EMC1:NM_015047:exon7:c.G696A:p.E232E 0.086 0.11 0.15 0.001 0.17 0.022 0.1278 0.1094 0.1886 0.0010 0.1181 0.1585 0.1347 0.0425 0.14 0.11 0.16 0.15 0.12 rs12084825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1324 0.1018 0.1911 0.2091 0.0010 0.1211 0.1581 0.1449 0.0452 0.1311 0.1057 0.2029 0.2219 0.0012 0.1168 0.1573 0.1337 het 1800.83 137 1 19566881 . C T 1800.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.418;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1361;MQ=59.07;MQ0=0;MQRankSum=-0.158;QD=13.14;ReadPosRankSum=-0.769;VQSLOD=5.7004;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,76:137:99:1831,0,1506 1 19595137 19595137 C T exonic AKR7L unknown UNKNOWN 0.67 0.4 0.73 0.8 0.69 0.81 0.6876 0.4364 0.7562 0.7769 0.7591 0.6719 0.6965 0.7847 0.59 0.44 0.67 0.49 0.63 rs2235795 . . . . . . . . . . . . . . . . 0.003 0.102 B 0.011 0.145 B 0.039 0.242 N 1 0.090 P . . . . . . . . . 0.312 0.373 -1.041 0.169 T 0.000 0.000 T . . . 0.730 0.164 9.025 0.962 0.285 0.039 0.091 N c -1.316 -1.436 0.474 0.207 0.208 0.033 0 -4.47 0.033 -0.273 0.085 -0.603 0.044 0.000 0.063 0.000 0.016 7.771 0.280 NADP-dependent oxidoreductase domain ENSG00000053372.4|ENSG00000053372.4 Esophagus_Mucosa|Muscle_Skeletal 0.6932 0.4359 0.7480 0.6172 0.7733 0.7604 0.6690 0.6915 0.7800 0.6188 0.4293 0.7117 0.6358 0.7813 0.7611 0.6681 0.6922 het 1475.17 121 1 19595137 . C T 1475.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.649;DP=121;Dels=0.00;FS=4.550;HRun=0;HaplotypeScore=3.9944;MQ=59.26;MQ0=0;MQRankSum=-0.569;QD=12.19;ReadPosRankSum=1.550;VQSLOD=4.2551;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,64:121:99:1505,0,1419 1 19611227 19611227 G A exonic AKR7A3 synonymous SNV AKR7A3:NM_012067:exon5:c.C657T:p.P219P 0.15 0.13 0.14 0.026 0.18 0.27 0.1678 0.1322 0.0860 0.0124 0.1653 0.1818 0.1971 0.2720 0.17 0.13 0.18 0.087 0.18 rs1065658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1643 0.1266 0.0928 0.2136 0.0114 0.1614 0.1801 0.1802 0.2726 0.1461 0.1231 0.1079 0.22 0.0111 0.1666 0.1694 0.1534 het 2210 176 1 19611227 . G A 2210 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.113;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7906;MQ=59.24;MQ0=0;MQRankSum=-0.124;QD=12.56;ReadPosRankSum=0.610;VQSLOD=4.1662;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,88:176:99:2240,0,2195 1 19611241 19611241 T C exonic AKR7A3 nonsynonymous SNV AKR7A3:NM_012067:exon5:c.A643G:p.N215D 0.81 0.64 0.86 0.85 0.86 0.9 0.8247 0.6594 0.8398 0.8202 0.8638 0.8320 0.8194 0.8752 0.77 0.66 0.83 0.71 0.8 rs1738023 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.090 P . . . 1.89 0.237 T 2.58 0.002 N 0.009 0.001 -0.957 0.397 T 0.000 0.000 T . . . -0.428 0.060 0.332 0.370 0.024 0.024 0.067 N c -0.993 -0.910 0.011 0.122 0.554 0.283 0 3.02 0.338 0.857 0.273 -0.153 0.108 1.000 0.715 0.919 0.394 8.979 0.349 NADP-dependent oxidoreductase domain . . 0.8264 0.6531 0.8380 0.7790 0.8180 0.8648 0.8320 0.8280 0.8713 0.7817 0.6489 0.8210 0.7833 0.8249 0.8694 0.8275 0.8330 het 2039.63 166 1 19611241 . T C 2039.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.651;DP=166;Dels=0.00;FS=0.573;HRun=1;HaplotypeScore=5.8570;MQ=59.35;MQ0=0;MQRankSum=-0.296;QD=12.29;ReadPosRankSum=-0.887;VQSLOD=5.0563;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:82,84:166:99:2070,0,2097 1 19652063 19652063 G A exonic PQLC2 synonymous SNV PQLC2:NM_001040125:exon4:c.G369A:p.T123T,PQLC2:NM_001040126:exon4:c.G174A:p.T58T,PQLC2:NM_001287531:exon4:c.G36A:p.T12T,PQLC2:NM_017765:exon5:c.G369A:p.T123T 0.21 0.16 0.18 0.083 0.29 0.33 0.2477 0.1853 0.1165 0.0817 0.2678 0.2819 0.2761 0.3183 0.25 0.18 0.29 0.22 0.3 rs11558390 COSM3750722 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2423 0.1840 0.1277 0.2586 0.0797 0.2650 0.2832 0.2441 0.3171 0.2343 0.1782 0.1566 0.3013 0.0983 0.2707 0.2746 0.2598 het 777.46 67 1 19652063 . G A 777.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.505;DP=67;Dels=0.00;FS=3.821;HRun=0;HaplotypeScore=3.4742;MQ=58.04;MQ0=0;MQRankSum=-1.041;QD=11.60;ReadPosRankSum=0.450;VQSLOD=4.3868;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,31:67:99:807,0,968 1 19950062 19950062 T C exonic MINOS1 synonymous SNV MINOS1:NM_001204082:exon2:c.T159C:p.H53H,MINOS1:NM_001032363:exon3:c.T207C:p.H69H,MINOS1:NM_001204083:exon3:c.T207C:p.H69H 0.35 0.7 0.2 0.14 0.23 0.29 0.2465 0.6529 0.1507 0.1741 0.2516 0.2090 0.2104 0.2473 0.35 0.65 0.2 0.4 0.19 rs1737428 COSM3997128 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2340 0.6575 0.1600 0.1587 0.1765 0.2451 0.2087 0.2171 0.2474 0.3357 0.6542 0.1770 0.1258 0.1921 0.2342 0.2091 0.2387 het 1583.38 138 1 19950062 . T C 1583.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.403;DP=138;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7840;MQ=59.39;MQ0=0;MQRankSum=-0.128;QD=11.47;ReadPosRankSum=-3.223;VQSLOD=4.4578;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,63:138:99:1613,0,2153 1 20005822 20005822 C T exonic HTR6 synonymous SNV HTR6:NM_000871:exon3:c.C1284T:p.P428P 0.011 0.0008 0.0043 0.016 0.007 0.027 0.0137 0.0049 0.0071 0.0223 0.0095 0.0104 0.0152 0.0344 0.0069 0.0029 0.0088 0.011 0.0082 rs8192534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0118 0.0034 0.0070 0.0037 0.0184 0.0086 0.0105 0.0086 0.0267 0.0088 0.0036 0.0119 0.0066 0.0185 0.0086 0.0108 0.0061 het 191.54 19 1 20005822 . C T 191.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.857;DP=19;Dels=0.00;FS=1.952;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.286;QD=10.08;ReadPosRankSum=-1.347;VQSLOD=5.7803;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,10:19:99:222,0,201 1 20020993 20020993 A G exonic TMCO4 synonymous SNV TMCO4:NM_001349112:exon14:c.T1434C:p.R478R,TMCO4:NM_001349113:exon15:c.T1434C:p.R478R,TMCO4:NM_181719:exon15:c.T1434C:p.R478R,TMCO4:NM_001349114:exon16:c.T1434C:p.R478R 0.66 0.53 0.68 0.58 0.8 0.76 0.7615 0.5714 0.6241 0.6000 0.8413 0.8203 0.7987 0.7906 0.73 0.57 0.81 0.2 0.53 rs4370779 COSM3997130 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7590 0.5706 0.6309 0.7775 0.5867 0.8495 0.8210 0.7702 0.7902 0.7392 0.5708 0.6519 0.7881 0.5954 0.8523 0.8252 0.8184 hom 6197.72 217 1 20020993 . A G 6197.72 Mask AC=2;AF=1.00;AN=2;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=59.69;MQ0=0;QD=28.56;VQSLOD=6.2904;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:6196,526,0 1 20020994 20020994 C T exonic TMCO4 nonsynonymous SNV TMCO4:NM_001349112:exon14:c.G1433A:p.R478H,TMCO4:NM_001349113:exon15:c.G1433A:p.R478H,TMCO4:NM_181719:exon15:c.G1433A:p.R478H,TMCO4:NM_001349114:exon16:c.G1433A:p.R478H 0.43 0.19 0.54 0.28 0.67 0.59 0.5734 0.2555 0.4925 0.2687 0.7067 0.6521 0.6308 0.6150 0.51 0.26 0.64 . 0.5 rs4515815 COSM4415151 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.194 0.208 T 0.006 0.322 B 0.004 0.208 B 0.848 0.070 N 1.000 0.182 P 1.055 0.270 L 0.84 0.475 T -0.19 0.100 N 0.059 0.043 -0.960 0.393 T 0.000 0.000 T . . . 0.629 0.154 8.358 0.925 0.213 0.016 0.051 N c -1.361 -1.440 0.868 0.253 0.707 0.730 0 -3.89 0.039 -0.026 0.122 -0.346 0.071 0.010 0.182 0.031 0.148 11.943 0.520 . ENSG00000158748.3 Whole_Blood 0.5761 0.2492 0.4953 0.5891 0.2691 0.7121 0.6533 0.5989 0.6125 0.5065 0.2468 0.5132 0.6126 0.2751 0.6972 0.6274 0.6391 het 2665.54 220 1 20020994 . C T 2665.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.251;DP=220;Dels=0.00;FS=1.811;HRun=0;HaplotypeScore=0.9993;MQ=59.70;MQ0=0;MQRankSum=-0.874;QD=12.12;ReadPosRankSum=-0.563;VQSLOD=6.2414;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:110,110:220:99:2696,0,2808 1 20246876 20246876 C T exonic PLA2G2E nonsynonymous SNV PLA2G2E:NM_014589:exon4:c.G353A:p.R118H 0.094 0.087 0.043 0.15 0.088 0.081 0.0936 0.0871 0.0486 0.1513 0.1011 0.0987 0.0850 0.0758 0.089 0.084 0.091 0.087 0.066 rs61729970 . . . . . . . . . . . . . 0.211 0.195 T 0.003 0.102 B 0.014 0.158 B 0.224 0.035 N 1 0.090 P 0.77 0.194 N 1.64 0.278 T -1.77 0.418 N 0.023 0.007 -1.058 0.121 T 0.000 0.002 T . . . 1.478 0.240 13.20 0.944 0.241 0.004 0.019 N c -1.301 -1.372 1.000 0.517 0.428 0.059 0 -7.18 0.013 -0.744 0.049 -0.264 0.087 0.000 0.063 0.834 0.348 16.572 0.844 Phospholipase A2 domain . . 0.0901 0.0865 0.0497 0.0911 0.1544 0.0988 0.0950 0.0861 0.0765 0.1010 0.0858 0.0609 0.1192 0.1634 0.1043 0.1041 0.1039 het 1021.19 74 1 20246876 . C T 1021.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.582;DP=74;Dels=0.00;FS=3.412;HRun=0;HaplotypeScore=4.3302;MQ=59.44;MQ0=0;MQRankSum=-0.371;QD=13.80;ReadPosRankSum=1.746;VQSLOD=4.8233;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,40:74:99:1051,0,827 1 20304926 20304926 G A exonic PLA2G2A synonymous SNV PLA2G2A:NM_001161728:exon3:c.C132T:p.Y44Y,PLA2G2A:NM_001161729:exon3:c.C132T:p.Y44Y,PLA2G2A:NM_000300:exon4:c.C132T:p.Y44Y,PLA2G2A:NM_001161727:exon4:c.C132T:p.Y44Y 0.11 0.097 0.11 0.027 0.21 0.095 0.1848 0.0998 0.0790 0.0305 0.2552 0.2481 0.1727 0.1193 0.17 0.099 0.21 0.13 0.3 rs4744 COSM1132970 1(liver);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1768 0.1028 0.0899 0.1326 0.0300 0.2466 0.2425 0.1830 0.1203 0.1989 0.1061 0.1050 0.1291 0.0321 0.2477 0.2623 0.2587 het 729.14 63 1 20304926 . G A 729.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.929;DP=63;Dels=0.00;FS=1.156;HRun=0;HaplotypeScore=3.5716;MQ=58.89;MQ0=0;MQRankSum=-1.517;QD=11.57;ReadPosRankSum=0.490;VQSLOD=5.4607;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,28:63:99:759,0,657 1 20411332 20411332 C T exonic PLA2G5 synonymous SNV PLA2G5:NM_000929:exon2:c.C9T:p.G3G 0.25 0.095 0.26 0.31 0.34 0.31 0.3298 0.1250 0.2351 0.3062 0.4152 0.3696 0.3689 0.3399 0.27 0.13 0.35 0.2 0.37 rs2020887 COSM146435 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3263 0.1196 0.2312 0.3638 0.3088 0.4156 0.3601 0.3518 0.3391 0.2998 0.1142 0.2464 0.3733 0.3288 0.4156 0.3732 0.3996 het 1965.19 195 1 20411332 . C T 1965.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.649;DP=195;Dels=0.00;FS=0.546;HRun=0;HaplotypeScore=4.4223;MQ=59.38;MQ0=0;MQRankSum=1.067;QD=10.08;ReadPosRankSum=-0.112;VQSLOD=5.8959;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,86:195:99:1995,0,2844 1 20442054 20442054 T C exonic PLA2G2D nonsynonymous SNV PLA2G2D:NM_012400:exon3:c.A238G:p.S80G 0.77 0.97 0.7 0.76 0.59 0.75 0.6607 0.9161 0.6828 0.7723 0.5920 0.5855 0.6498 0.7579 0.69 0.9 0.58 0.79 0.63 rs584367 COSM3750787 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.864 0.026 T 0.0 0.026 B 0.0 0.013 B 0.017 0.015 N 1 0.090 P 0.105 0.085 N 1.68 0.272 T 1.49 0.007 N 0.035 0.016 -0.975 0.362 T 0.000 0.000 T . . . -2.310 0.005 0.001 0.456 0.035 0.034 0.085 N c -1.922 -1.919 0.909 0.263 0.526 0.212 0 -4.38 0.034 -1.315 0.028 -2.592 0.002 0.000 0.063 0.000 0.016 1.181 0.017 Phospholipase A2 domain . . 0.6573 0.9203 0.6853 0.5957 0.7753 0.5933 0.5853 0.6484 0.7586 0.6942 0.9226 0.6718 0.5960 0.7825 0.6002 0.5829 0.5941 het 1241.80 123 1 20442054 . T C 1241.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.522;DP=123;Dels=0.00;FS=0.677;HRun=1;HaplotypeScore=3.8074;MQ=58.08;MQ0=0;MQRankSum=0.973;QD=10.10;ReadPosRankSum=-0.368;VQSLOD=5.4583;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,56:123:99:1272,0,1743 1 20490518 20490518 T C exonic PLA2G2C nonsynonymous SNV PLA2G2C:NM_001316722:exon4:c.A410G:p.Q137R 0.66 0.75 0.49 0.73 0.58 0.67 0.6079 0.7306 0.4106 0.7346 0.5347 0.5909 0.5833 0.7010 0.64 0.72 0.59 0.66 . rs6426616 COSM3746742 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.911 0.024 T 0.0 0.026 B 0.001 0.040 B 0.051 0.020 N 1 0.090 P -1.76 0.003 N 1.73 0.264 T 1.21 0.011 N 0.021 0.011 -0.948 0.414 T 0.000 0.000 T . . . -0.753 0.042 0.055 0.560 0.053 0.018 0.055 N c -1.008 -0.815 0.001 0.085 0.487 0.133 0 3.36 0.374 0.116 0.153 -0.384 0.065 0.991 0.370 0.009 0.108 5.563 0.163 Phospholipase A2 domain ENSG00000227066.1 Artery_Coronary 0.5902 0.7238 0.4101 0.6186 0.7280 0.5280 0.5855 0.5765 0.6988 0.6183 0.7183 0.4678 0.6192 0.7255 0.5306 0.5803 0.5724 hom 994.34 33 1 20490518 . T C 994.34 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.86;MQ0=0;QD=30.13;VQSLOD=9.2598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:81.25:1027,81,0 1 20915701 20915701 A C exonic CDA nonsynonymous SNV CDA:NM_001785:exon1:c.A79C:p.K27Q 0.19 0.067 0.31 0.12 0.31 0.23 0.2758 0.0914 0.2784 0.1253 0.2044 0.3427 0.2671 0.2272 0.26 0.1 0.35 0.17 0.27 rs2072671 COSM3750847 1(breast);2(haematopoietic_and_lymphoid_tissue);7(soft_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.308 0.141 T 0.004 0.112 B 0.005 0.104 B 0.001 0.394 N 0.000 0.489 P 1.17 0.299 L 0.98 0.421 T -0.29 0.117 N 0.164 0.238 -0.964 0.384 T 0.000 0.000 T . . . 1.907 0.290 15.63 0.972 0.322 0.532 0.291 D c -0.293 -0.089 1.000 0.747 0.726 0.872 0 3.98 0.452 1.373 0.337 1.199 0.960 0.999 0.424 1.000 0.888 7.795 0.281 Cytidine and deoxycytidylate deaminases\x2c zinc-binding|Cytidine deaminase-like ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158828.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Whole_Blood 0.2798 0.0846 0.2882 0.4322 0.1202 0.1995 0.3454 0.3038 0.2252 0.2258 0.0870 0.2852 0.4172 0.1222 0.1911 0.3161 0.2710 het 757.65 82 1 20915701 . A C 757.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.119;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=-0.440;QD=9.24;ReadPosRankSum=-0.622;VQSLOD=6.7718;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,31:82:99:788,0,1360 1 20945055 20945055 C T exonic CDA synonymous SNV CDA:NM_001785:exon4:c.C435T:p.T145T 0.31 0.38 0.32 0.24 0.32 0.27 0.3088 0.3883 0.2973 0.2393 0.3271 0.3166 0.2777 0.2660 0.34 0.4 0.31 0.43 0.33 rs1048977 COSM146436 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3069 0.3868 0.3078 0.2422 0.2387 0.3225 0.3207 0.2993 0.2651 0.3364 0.3875 0.3278 0.2053 0.2466 0.3072 0.3275 0.3189 het 771.89 64 1 20945055 . C T 771.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.366;DP=64;Dels=0.00;FS=0.955;HRun=0;HaplotypeScore=1.8664;MQ=59.12;MQ0=0;MQRankSum=-0.383;QD=12.06;ReadPosRankSum=-0.881;VQSLOD=6.5890;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,30:64:99:802,0,948 1 20972111 20972111 G A exonic PINK1 nonsynonymous SNV PINK1:NM_032409:exon5:c.G1018A:p.A340T 0.12 0.011 0.058 0.27 0.046 0.24 0.0921 0.0172 0.1044 0.2733 0.0905 0.0469 0.0916 0.2191 0.037 0.018 0.047 0.043 0.11 rs3738136 . . Likely benign Parkinson_Disease\x2c_Recessive RCV000322826.1 MedGen CN239372 . . . . . . 1.0 0.010 T 0.001 0.090 B 0.001 0.063 B 0.000 0.443 N 1 0.090 P 0.425 0.126 N -0.82 0.741 T 1.34 0.009 N 0.114 0.124 -1.075 0.084 T 0.000 0.000 T . . . 0.341 0.127 6.083 0.759 0.109 0.215 0.212 N c -0.991 -0.827 0.440 0.204 0.707 0.730 0 2.4 0.284 1.029 0.295 0.235 0.261 0.999 0.424 0.003 0.074 4.692 0.121 Protein kinase domain|Protein kinase-like domain . . 0.0923 0.0161 0.0997 0.0368 0.2649 0.0927 0.0454 0.0738 0.2163 0.0557 0.0142 0.0979 0.0530 0.2652 0.0932 0.0442 0.0878 het 1262.33 86 1 20972111 . G A 1262.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.307;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8874;MQ=57.05;MQ0=0;MQRankSum=-0.879;QD=14.68;ReadPosRankSum=0.628;VQSLOD=4.0622;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,46:86:99:1292,0,977 1 20977000 20977000 A C exonic PINK1 nonsynonymous SNV PINK1:NM_032409:exon8:c.A1562C:p.N521T 0.3 0.25 0.19 0.36 0.29 0.4 0.2974 0.2679 0.2290 0.3596 0.3665 0.2795 0.2907 0.3763 0.27 0.27 0.27 0.26 0.37 rs1043424 . . Likely benign|Likely benign Congenital_disorder_of_glycosylation|Parkinson_Disease\x2c_Recessive RCV000362537.1|RCV000408170.1 MedGen:Orphanet:SNOMED_CT|MedGen C0282577:ORPHA137:238049009|CN239372 . . . . . . 0.247 0.173 T 0.004 0.174 B 0.005 0.112 B 0.169 0.174 N 1 0.090 P 1.67 0.430 L -0.81 0.740 T -0.94 0.251 N 0.078 0.069 -1.033 0.195 T 0.000 0.000 T . . . 1.699 0.265 14.40 0.982 0.390 0.232 0.218 N c -0.672 -0.607 0.070 0.155 0.672 0.522 0 1.55 0.222 0.617 0.239 1.140 0.893 0.224 0.244 0.999 0.750 7.400 0.260 . . . 0.2930 0.2671 0.2323 0.1937 0.3526 0.3694 0.2780 0.2691 0.3742 0.2873 0.2556 0.2518 0.2152 0.3585 0.3655 0.2813 0.3180 het 1003.44 83 1 20977000 . A C 1003.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.770;DP=83;Dels=0.00;FS=4.981;HRun=0;HaplotypeScore=1.7882;MQ=59.19;MQ0=0;MQRankSum=-0.512;QD=12.09;ReadPosRankSum=-0.263;VQSLOD=5.9103;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,35:83:99:1033,0,1347 1 20987873 20987873 G C exonic DDOST nonsynonymous SNV DDOST:NM_005216:exon1:c.C22G:p.R8G 0.97 0.9 0.99 1. 1. 1. 0.9925 0.9175 0.9950 1 1 0.9996 0.9940 1 0.97 0.93 1. 0.96 0.72 rs537816 COSM3750850 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.449 N 1 0.090 P 0 0.065 N 0.72 0.510 T 0.01 0.069 N 0.205 0.258 -0.922 0.452 T 0.000 0.000 T . . . 2.284 0.336 18.06 0.909 0.195 0.080 0.138 N c -0.955 -0.793 1.0 0.983 0.442 0.072 0 3.4 0.379 -0.184 0.096 0.067 0.174 0.000 0.063 0.148 0.204 5.342 0.152 . ENSG00000244038.5 Muscle_Skeletal 0.9941 0.9186 0.9945 0.9998 0.9999 1 0.9997 0.9961 1.0000 0.9772 0.9206 0.9928 1 1 1 0.9998 0.9969 hom 715.64 21 1 20987873 . G C 715.64 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.08;VQSLOD=12.9095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:749,57,0 1 21024901 21024901 C T exonic KIF17 nonsynonymous SNV KIF17:NM_001122819:exon6:c.G1204A:p.V402M,KIF17:NM_001287212:exon6:c.G904A:p.V302M,KIF17:NM_020816:exon6:c.G1204A:p.V402M 0.6 0.45 0.72 0.65 0.69 0.57 0.6210 0.4918 0.6605 0.6299 0.6702 0.6411 0.6116 0.5700 0.59 0.5 0.64 0.54 0.64 rs522496 COSM1338584 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.794 0.050 T 0.006 0.126 B 0.008 0.127 B 0.914 0.085 N 1 0.090 P 0 0.065 N -0.64 0.721 T 0.15 0.053 N 0.035 0.015 -0.918 0.458 T 0.000 0.000 T . . . 0.859 0.176 9.821 0.703 0.090 0.011 0.041 N c -1.199 -1.129 1.000 0.489 0.626 0.397 0 2.87 0.324 0.127 0.155 0.090 0.195 0.017 0.192 0.064 0.173 7.644 0.273 . . . 0.6278 0.4868 0.6649 0.6877 0.6291 0.6781 0.6358 0.6298 0.5722 0.5999 0.4792 0.6487 0.6921 0.6170 0.6683 0.6447 0.6469 hom 2345.35 78 1 21024901 . C T 2345.35 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9940;MQ=58.78;MQ0=0;QD=30.07;VQSLOD=9.0026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2378,187,0 1 21036265 21036265 C T exonic KIF17 synonymous SNV KIF17:NM_001122819:exon4:c.G537A:p.V179V,KIF17:NM_001287212:exon4:c.G237A:p.V79V,KIF17:NM_020816:exon4:c.G537A:p.V179V 0.0054 0.0015 0.01 . 0.014 0.0041 0.0130 0.0037 0.0097 0.0002 0.0088 0.0186 0.0113 0.0067 0.014 0.0048 0.019 0.011 0.049 rs33996125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0127 0.0031 0.0105 0.0080 0.0001 0.0089 0.0196 0.0128 0.0063 0.0106 0.0018 0.0072 0.0033 0.0006 0.0109 0.0170 0.0112 het 1612.53 115 1 21036265 . C T 1612.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.411;DP=115;Dels=0.00;FS=7.521;HRun=0;HaplotypeScore=1.8245;MQ=60.00;MQ0=0;MQRankSum=-0.484;QD=14.02;ReadPosRankSum=1.200;VQSLOD=3.8246;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,58:115:99:1643,0,1588 1 21042033 21042033 T C exonic KIF17 nonsynonymous SNV KIF17:NM_001122819:exon2:c.A331G:p.R111G,KIF17:NM_001287212:exon2:c.A31G:p.R11G,KIF17:NM_020816:exon2:c.A331G:p.R111G 0.0066 0.0015 0.0058 . 0.025 0.002 0.0136 0.0021 0.0035 0 0.0403 0.0188 0.0122 0.0036 0.011 0.0023 0.016 0.011 0.0082 rs35835983 COSM3360618 1(kidney) . . . . . . . . . . . 0.002 0.721 D 0.944 0.585 P 0.596 0.550 P 0.069 0.216 U 0.989 0.409 D 2.465 0.718 M -0.94 0.753 T -5.27 0.841 D 0.254 0.310 -0.394 0.723 T 0.251 0.621 T . . . 3.942 0.531 23.5 0.994 0.613 0.772 0.376 D c 0.126 -0.039 1.000 0.747 0.696 0.567 0 2.27 0.274 0.718 0.254 0.085 0.192 0.631 0.278 0.751 0.322 6.448 0.210 Kinesin motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.0134 0.0017 0.0050 0.0001 0 0.0429 0.0174 0.0150 0.0038 0.0146 0.0029 0.0036 0 0 0.0430 0.0167 0.0234 het 1921.13 137 1 21042033 . T C 1921.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.303;DP=137;Dels=0.00;FS=0.640;HRun=1;HaplotypeScore=3.8587;MQ=59.18;MQ0=0;MQRankSum=1.291;QD=14.02;ReadPosRankSum=-0.694;VQSLOD=5.3310;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,71:137:99:1951,0,1846 1 21042115 21042115 G A exonic KIF17 synonymous SNV KIF17:NM_001122819:exon2:c.C249T:p.Y83Y,KIF17:NM_020816:exon2:c.C249T:p.Y83Y 0.01 0.0023 0.013 . 0.036 0.0031 0.0219 0.0046 0.0063 0 0.0642 0.0299 0.0188 0.0062 0.019 0.0059 0.026 0.022 0.0082 rs34126615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0222 0.0042 0.0087 0.0159 0 0.0641 0.0287 0.0235 0.0067 0.0240 0.0047 0.0072 0.0132 0 0.0670 0.0281 0.0378 het 1362.85 115 1 21042115 . G A 1362.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.654;DP=115;Dels=0.00;FS=0.751;HRun=0;HaplotypeScore=4.4891;MQ=59.60;MQ0=0;MQRankSum=-0.985;QD=11.85;ReadPosRankSum=0.188;VQSLOD=4.7688;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,53:115:99:1393,0,1700 1 21044161 21044161 A G exonic KIF17 synonymous SNV KIF17:NM_001122819:exon1:c.T39C:p.R13R,KIF17:NM_020816:exon1:c.T39C:p.R13R 0.71 0.6 0.62 0.89 0.72 0.74 0.7131 0.6303 0.6859 0.9048 0.7202 0.6954 0.6725 0.7393 0.67 0.63 0.69 0.46 0.48 rs601329 COSM3746771 1(liver);16(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7065 0.6121 0.6785 0.5592 0.9020 0.7176 0.7000 0.6855 0.7362 0.7003 0.6220 0.6542 0.5333 0.8965 0.7287 0.7224 0.7195 hom 1131.07 34 1 21044161 . A G 1131.07 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.27;VQSLOD=13.5182;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:90.28:1164,90,0 1 21050958 21050958 C T exonic SH2D5 synonymous SNV SH2D5:NM_001103160:exon5:c.G309A:p.Q103Q,SH2D5:NM_001103161:exon6:c.G561A:p.Q187Q 0.88 0.98 0.76 0.98 0.77 0.83 0.8054 0.9604 0.7693 0.9932 0.7566 0.7627 0.7717 0.8332 0.82 0.96 0.76 0.95 0.66 rs592060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7991 0.9611 0.7719 0.7319 0.9925 0.7606 0.7608 0.7767 0.8309 0.8342 0.9606 0.7524 0.7318 0.9907 0.7519 0.7719 0.7943 hom 1155.91 38 1 21050958 . C T 1155.91 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.39;MQ0=0;QD=30.42;VQSLOD=9.2606;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:96.27:1189,96,0 1 21071419 21071419 G A exonic HP1BP3 synonymous SNV HP1BP3:NM_016287:exon13:c.C1533T:p.P511P 0.013 0.0023 0.02 . 0.042 0.0072 0.0295 0.0067 0.0122 0 0.0659 0.0406 0.0220 0.0125 0.028 0.0098 0.037 0.022 0.033 rs17448349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0296 0.0059 0.0141 0.0250 0 0.0655 0.0398 0.0317 0.0128 0.0297 0.0064 0.0107 0.0199 0 0.0696 0.0375 0.0449 hom 2512.74 73 1 21071419 . G A 2512.74 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=59.37;MQ0=0;QD=34.42;VQSLOD=9.5603;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2546,199,0 1 21076274 21076274 G A exonic HP1BP3 synonymous SNV HP1BP3:NM_016287:exon10:c.C1083T:p.T361T 0.013 0.0023 0.02 . 0.042 0.0072 0.0296 0.0067 0.0124 0 0.0659 0.0407 0.0221 0.0126 0.028 0.0098 0.037 0.022 0.033 rs12729575 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0297 0.0059 0.0148 0.0251 0 0.0655 0.0399 0.0317 0.0128 0.0298 0.0064 0.0119 0.0199 0 0.0693 0.0376 0.0449 hom 4242.56 136 1 21076274 . G A 4242.56 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.04;MQ0=0;QD=31.20;VQSLOD=9.6947;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4242,331,0 1 21167404 21167404 A G exonic EIF4G3 synonymous SNV EIF4G3:NM_003760:exon25:c.T3838C:p.L1280L,EIF4G3:NM_001198801:exon28:c.T3946C:p.L1316L,EIF4G3:NM_001198802:exon28:c.T3856C:p.L1286L 0.94 0.78 0.98 1. 1. 1. 0.9831 0.8149 0.9914 1 1 0.9997 0.9945 0.9999 0.94 0.81 1. 0.95 0.98 rs2230573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9863 0.8078 0.9896 1 1 1 0.9997 0.9907 0.9996 0.9425 0.7985 0.9881 1 1 1 0.9997 0.9888 hom 3371.50 103 1 21167404 . A G 3371.50 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=58.55;MQ0=0;QD=32.73;VQSLOD=9.2273;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3371,265,0 1 21560080 21560080 A G exonic ECE1 synonymous SNV ECE1:NM_001113347:exon12:c.T1605C:p.D535D,ECE1:NM_001113349:exon13:c.T1632C:p.D544D,ECE1:NM_001113348:exon14:c.T1593C:p.D531D,ECE1:NM_001397:exon14:c.T1641C:p.D547D 0.14 0.45 0.065 0.004 0.047 0.026 0.0646 0.3800 0.0314 0.0035 0.0655 0.0398 0.0420 0.0228 0.15 0.37 0.035 0.12 0.066 rs2228321 . . Benign not_specified RCV000242717.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0582 0.3887 0.0359 0.0389 0.0030 0.0656 0.0385 0.0542 0.0225 0.1382 0.3900 0.0406 0.0265 0.0037 0.0691 0.0354 0.0634 het 768.79 76 1 21560080 . A G 768.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.119;DP=76;Dels=0.00;FS=1.951;HRun=1;HaplotypeScore=2.6203;MQ=58.55;MQ0=1;MQRankSum=1.205;QD=10.12;ReadPosRankSum=0.487;VQSLOD=6.1127;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,33:76:99:799,0,1150 1 21573722 21573722 G A exonic ECE1 synonymous SNV ECE1:NM_001113347:exon7:c.C1119T:p.T373T,ECE1:NM_001113349:exon8:c.C1146T:p.T382T,ECE1:NM_001113348:exon9:c.C1107T:p.T369T,ECE1:NM_001397:exon9:c.C1155T:p.T385T 0.15 0.014 0.27 0.13 0.25 0.15 0.2204 0.0526 0.2071 0.1339 0.2591 0.2684 0.2522 0.1696 0.2 0.057 0.27 0.12 0.29 rs2229450 COSM4143321;COSM4143320;COSM4143319 1(thyroid) Benign not_specified RCV000244888.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2224 0.0474 0.2117 0.2167 0.1329 0.2616 0.2698 0.2231 0.1730 0.2004 0.0484 0.2327 0.1788 0.1330 0.2657 0.2765 0.2490 het 1103.05 86 1 21573722 . G A 1103.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.524;DP=86;Dels=0.00;FS=1.847;HRun=0;HaplotypeScore=1.9940;MQ=58.44;MQ0=0;MQRankSum=0.497;QD=12.83;ReadPosRankSum=0.273;VQSLOD=5.8703;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,45:86:99:1133,0,978 1 21573855 21573855 G A exonic ECE1 nonsynonymous SNV ECE1:NM_001113347:exon7:c.C986T:p.T329I,ECE1:NM_001113349:exon8:c.C1013T:p.T338I,ECE1:NM_001113348:exon9:c.C974T:p.T325I,ECE1:NM_001397:exon9:c.C1022T:p.T341I 0.029 0.0038 0.032 . 0.079 0.038 0.0555 0.0133 0.0187 0 0.0779 0.0774 0.0442 0.0398 0.055 0.015 0.075 0.033 0.074 rs1076669 . . Benign not_specified RCV000253112.1 MedGen CN169374 . . . . . . 0.168 0.302 T 0.04 0.198 B 0.063 0.256 B 0.142 0.182 N 1.000 0.189 N 1.81 0.478 L -0.81 0.740 T -2.03 0.496 N 0.118 0.130 -1.102 0.038 T 0.015 0.058 T . . . 2.616 0.376 20.3 0.994 0.649 0.201 0.207 N c -0.318 -0.189 0.999 0.387 0.707 0.730 0 4.56 0.555 2.288 0.429 0.953 0.551 0.989 0.365 0.939 0.413 7.444 0.262 Peptidase M13\x2c N-terminal domain . . 0.0547 0.0122 0.0244 0.0448 0.0002 0.0796 0.0783 0.0490 0.0398 0.0509 0.0128 0.0298 0.0397 0 0.0833 0.0718 0.0591 het 1358.57 116 1 21573855 . G A 1358.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.695;DP=116;Dels=0.00;FS=3.674;HRun=0;HaplotypeScore=5.8423;MQ=58.88;MQ0=0;MQRankSum=-0.232;QD=11.71;ReadPosRankSum=0.533;VQSLOD=5.0288;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,57:116:99:1389,0,1487 1 21795388 21795388 A G exonic NBPF3 nonsynonymous SNV NBPF3:NM_001256416:exon3:c.A341G:p.Y114C,NBPF3:NM_032264:exon3:c.A341G:p.Y114C,NBPF3:NM_001330381:exon7:c.A173G:p.Y58C 0.42 0.14 0.48 0.58 0.54 0.48 0.5182 0.2062 0.5494 0.5618 0.5360 0.5603 0.5606 0.4898 0.44 0.22 0.55 0.35 0.48 rs1827293 COSM425331;COSM3750874 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.008 0.586 D 1.0 0.899 D 0.998 0.875 D . . . 1 0.090 P 1.995 0.543 M 3.55 0.049 T -6.03 0.897 D 0.083 0.432 -0.903 0.477 T 0.000 0.000 T . . . 2.367 0.346 18.61 0.976 0.341 0.012 0.043 N c -0.490 -0.860 0.992 0.327 0.657 0.484 0 -2.16 0.066 0.172 0.164 0.360 0.273 0.001 0.137 0.000 0.016 1.989 0.032 . ENSG00000142794.14|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000176378.8|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000176378.8|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000176378.8|ENSG00000227001.2|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.5268 0.1962 0.5554 0.5769 0.5682 0.5430 0.5579 0.5603 0.4902 0.4614 0.2084 0.5431 0.5795 0.5749 0.5307 0.5657 0.5798 hom 4891.88 148 1 21795388 . A G 4891.88 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.84;MQ0=0;QD=33.05;VQSLOD=9.8031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4892,373,0 1 21889635 21889635 T C exonic ALPL synonymous SNV ALPL:NM_001177520:exon3:c.T99C:p.S33S,ALPL:NM_001127501:exon4:c.T165C:p.S55S,ALPL:NM_000478:exon5:c.T330C:p.S110S 0.93 0.85 0.95 0.98 0.94 0.96 0.9450 0.8664 0.9735 0.9878 0.9318 0.9456 0.9502 0.9542 0.92 0.87 0.95 0.91 0.96 rs1780316 COSM3746801 1(liver) Benign not_specified RCV000178778.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9473 0.8639 0.9678 0.9772 0.9867 0.9376 0.9436 0.9522 0.9537 0.9266 0.8662 0.9678 0.9735 0.9864 0.9367 0.9495 0.9277 hom 4367.57 143 1 21889635 . T C 4367.57 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=59.15;MQ0=0;QD=30.54;VQSLOD=9.1929;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4367,355,0 1 21940555 21940555 C T exonic RAP1GAP nonsynonymous SNV RAP1GAP:NM_001145658:exon8:c.G511A:p.A171T,RAP1GAP:NM_002885:exon8:c.G319A:p.A107T,RAP1GAP:NM_001145657:exon9:c.G319A:p.A107T,RAP1GAP:NM_001330383:exon9:c.G319A:p.A107T,RAP1GAP:NM_001350524:exon10:c.G319A:p.A107T,RAP1GAP:NM_001350525:exon10:c.G319A:p.A107T,RAP1GAP:NM_001350527:exon10:c.G319A:p.A107T,RAP1GAP:NM_001350528:exon10:c.G319A:p.A107T,RAP1GAP:NM_001350526:exon11:c.G319A:p.A107T 0.39 0.36 0.28 0.42 0.44 0.43 0.4351 0.3814 0.2875 0.4109 0.4700 0.4708 0.4047 0.4247 0.43 0.37 0.46 0.4 0.46 rs2275363 . . . . . . . . . . . . . 0.508 0.088 T 0.001 0.067 B 0.001 0.063 B 0.247 0.156 N 1 0.090 P 1.79 0.469 L -3.27 0.936 D 0.42 0.034 N 0.037 0.137 -1.021 0.233 T 0.000 0.000 T . . . 2.331 0.341 18.37 0.967 0.304 0.030 0.078 N c -0.960 -0.921 0.992 0.328 0.706 0.609 0 -1.45 0.083 -1.826 0.018 -0.208 0.100 0.000 0.063 0.991 0.552 10.547 0.441 Rap GTPase activating protein domain . . 0.4087 0.3568 0.2748 0.4482 0.3950 0.4283 0.4520 0.3942 0.4092 0.4230 0.3641 0.2792 0.4533 0.3747 0.4493 0.4628 0.4388 hom 1445 44 1 21940555 . C T 1445 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=32.84;VQSLOD=9.0979;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1478,117,0 1 22149935 22149935 T C exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon97:c.A13053G:p.S4351S,HSPG2:NM_005529:exon97:c.A13050G:p.S4350S 0.78 0.68 0.75 0.82 0.83 0.85 0.8204 0.7297 0.7689 0.8206 0.8281 0.8389 0.8082 0.8304 0.79 0.72 0.83 0.73 0.44 rs897467 COSM3750884 1(thyroid);10(large_intestine) Benign|Benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000302221.1|RCV000359351.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8081 0.7074 0.7491 0.8896 0.8181 0.8161 0.8247 0.8100 0.8263 0.7927 0.7179 0.7679 0.9139 0.8195 0.8199 0.8235 0.8289 hom 407.76 12 1 22149935 . T C 407.76 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;QD=33.98;VQSLOD=8.7282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:36.09:441,36,0 1 22154387 22154387 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon91:c.C12561T:p.S4187S,HSPG2:NM_005529:exon91:c.C12558T:p.S4186S 0.029 0.0015 0.023 . 0.04 0.09 0.0699 0.0116 0.0672 0 0.0590 0.0813 0.0816 0.1036 0.035 0.0086 0.049 0.022 0.025 rs11552570 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000311383.1|RCV000392517.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0408 0.0083 0.0219 0.0406 0.0001 0.0217 0.0488 0.0423 0.0853 0.0316 0.0087 0.0191 0.0331 0 0.0209 0.0505 0.0458 het 261.63 24 1 22154387 . G A 261.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.430;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-1.025;QD=10.90;ReadPosRankSum=-1.259;VQSLOD=6.1354;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,10:24:99:292,0,346 1 22154845 22154845 A G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon89:c.T12315C:p.D4105D,HSPG2:NM_005529:exon89:c.T12312C:p.D4104D 0.26 0.12 0.22 0.16 0.32 0.51 0.2982 0.1360 0.1835 0.1607 0.3359 0.3143 0.2757 0.4733 0.25 0.15 0.31 0.23 0.27 rs2228347 COSM3746805 1(breast);1(liver) Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000319755.1|RCV000353544.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2931 0.1324 0.1841 0.3414 0.1598 0.3269 0.3081 0.2821 0.4744 0.2493 0.1328 0.1969 0.3245 0.1421 0.3459 0.3015 0.3422 hom 3784.22 112 1 22154845 . A G 3784.22 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.021;DP=112;Dels=0.00;FS=4.890;HRun=0;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;MQRankSum=-1.639;QD=33.79;ReadPosRankSum=-1.392;VQSLOD=4.0295;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,111:112:99:3749,269,0 1 22157545 22157545 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon85:c.C11604T:p.Y3868Y,HSPG2:NM_005529:exon85:c.C11601T:p.Y3867Y 0.029 0.0015 0.023 . 0.04 0.089 0.0693 0.0100 0.0547 0 0.0468 0.0795 0.0773 0.1024 0.034 0.0077 0.048 0.022 0.016 rs112494360 COSM1320466 1(ovary) Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000265105.1|RCV000359769.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0415 0.0069 0.0217 0.0401 0.0002 0.0212 0.0498 0.0409 0.0857 0.0310 0.0071 0.0203 0.0331 0 0.0206 0.0502 0.0459 het 139.03 13 1 22157545 . G A 139.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DP=13;Dels=0.00;FS=5.756;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.101;QD=10.69;ReadPosRankSum=-0.377;VQSLOD=4.7916;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,6:13:99:169,0,209 1 22158157 22158157 A G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon82:c.T11343C:p.N3781N,HSPG2:NM_005529:exon82:c.T11340C:p.N3780N 0.083 0.17 0.052 . 0.067 0.093 0.0827 0.1823 0.0468 0 0.0435 0.0811 0.0657 0.0977 0.11 0.17 0.077 0.098 0.016 rs2229488 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000296602.1|RCV000351453.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0719 0.1753 0.0419 0.0632 0.0001 0.0402 0.0794 0.0750 0.0915 0.0933 0.1740 0.0359 0.0464 0.0006 0.0378 0.0752 0.0686 het 241.27 18 1 22158157 . A G 241.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.148;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9950;MQ=56.56;MQ0=0;MQRankSum=0.795;QD=13.40;ReadPosRankSum=-0.088;VQSLOD=3.4432;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:271,0,239 1 22159774 22159774 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon80:c.C11085T:p.P3695P,HSPG2:NM_005529:exon80:c.C11082T:p.P3694P 0.086 0.17 0.052 . 0.068 0.11 0.0792 0.1712 0.0372 0 0.0587 0.0772 0.0710 0.1091 0.11 0.17 0.077 0.098 0.049 rs2229486 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000304022.1|RCV000393030.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0755 0.1717 0.0411 0.0571 0.0002 0.0588 0.0795 0.0768 0.1110 0.0958 0.1744 0.0346 0.0397 0.0006 0.0599 0.0745 0.0786 het 1037.54 88 1 22159774 . G A 1037.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.638;DP=88;Dels=0.00;FS=5.874;HRun=0;HaplotypeScore=0.9992;MQ=59.15;MQ0=0;MQRankSum=2.068;QD=11.79;ReadPosRankSum=1.344;VQSLOD=4.6027;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,38:88:99:1068,0,1129 1 22160001 22160001 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon79:c.G10940A:p.R3647H,HSPG2:NM_005529:exon79:c.G10937A:p.R3646H 0.0006 . . . 0.002 0.001 0.0035 0.0004 0.0009 0 0.0040 0.0051 0.0078 0.0021 0.0034 0.0005 0.0049 . . rs112062179 . . Likely benign|Uncertain significance|Uncertain significance not_specified|Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000180084.1|RCV000310089.1|RCV000364726.1 MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet CN169374|C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.047 0.403 D 0.999 0.899 D 0.986 0.916 D 0.034 0.248 N 0.757 0.340 D 1.57 0.397 L -1.25 0.791 T -2.39 0.526 N 0.106 0.112 -0.101 0.801 T 0.460 0.791 T 0.149 0.831 D 3.695 0.501 23.3 0.998 0.927 0.583 0.303 D c 0.103 0.014 0.994 0.332 0.722 0.854 0 2.11 0.262 0.573 0.232 0.807 0.329 0.958 0.332 0.998 0.697 8.825 0.340 Concanavalin A-like lectin/glucanase domain|Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.0032 0.0005 0.0009 0.0027 0 0.0040 0.0049 0.0042 0.0018 0.0035 0.0006 0.0012 0 0 0.0052 0.0053 0.0041 het 933.64 72 1 22160001 . C T 933.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.471;DP=72;Dels=0.00;FS=6.518;HRun=0;HaplotypeScore=0.8667;MQ=59.16;MQ0=0;MQRankSum=0.812;QD=12.97;ReadPosRankSum=0.329;VQSLOD=4.7444;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,33:72:99:964,0,896 1 22160043 22160043 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon79:c.G10898A:p.R3633Q,HSPG2:NM_005529:exon79:c.G10895A:p.R3632Q 0.086 0.17 0.05 . 0.068 0.11 0.0795 0.1733 0.0372 0 0.0588 0.0774 0.0702 0.1091 0.11 0.17 0.077 0.098 0.049 rs2229493 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000276227.1|RCV000389238.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.399 0.110 T 0.003 0.237 B 0.015 0.195 B 0.965 0.082 N 1 0.090 P 0.93 0.236 L -0.15 0.652 T -1.51 0.439 N 0.132 0.152 -1.067 0.102 T 0.000 0.001 T . . . 0.200 0.113 4.684 0.880 0.171 0.191 0.203 N c -1.666 -1.655 0.967 0.289 0.722 0.854 0 -1.15 0.092 0.057 0.140 -0.966 0.023 0.005 0.169 0.016 0.126 8.850 0.342 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.0756 0.1727 0.0411 0.0571 0.0001 0.0588 0.0795 0.0766 0.1111 0.0960 0.1748 0.0347 0.0397 0.0006 0.0599 0.0747 0.0777 het 1120.59 76 1 22160043 . C T 1120.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.074;DP=76;Dels=0.00;FS=0.918;HRun=1;HaplotypeScore=1.7675;MQ=58.65;MQ0=0;MQRankSum=0.260;QD=14.74;ReadPosRankSum=0.801;VQSLOD=5.8881;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,39:76:99:1151,0,882 1 22165901 22165901 A G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon73:c.T9855C:p.A3285A,HSPG2:NM_005529:exon73:c.T9852C:p.A3284A 0.35 0.55 0.24 0.16 0.27 0.41 0.2876 0.5338 0.1840 0.1621 0.2849 0.2616 0.2311 0.3795 0.35 0.53 0.26 0.37 0.22 rs2291826 COSM5427757 1(haematopoietic_and_lymphoid_tissue) Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000336014.1|RCV000399444.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2765 0.5378 0.1852 0.2533 0.1611 0.2762 0.2601 0.2551 0.3821 0.3318 0.5427 0.1930 0.2318 0.1445 0.2833 0.2519 0.3119 het 1018.43 83 1 22165901 . A G 1018.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.149;DP=83;Dels=0.00;FS=4.183;HRun=1;HaplotypeScore=8.5766;MQ=59.22;MQ0=0;MQRankSum=0.733;QD=12.27;ReadPosRankSum=-1.025;VQSLOD=4.1919;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:41,42:83:99:1048,0,1183 1 22167605 22167605 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon71:c.G9505A:p.A3169T,HSPG2:NM_005529:exon71:c.G9502A:p.A3168T 0.084 0.16 0.05 . 0.068 0.11 0.1176 0.2266 0.0711 0 0.1124 0.1144 0.1 0.1355 0.1 0.16 0.075 0.098 . rs2228349 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000259415.1|RCV000316947.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.271 0.160 T 0.006 0.126 B 0.027 0.198 B 0.510 0.118 N 1 0.090 P 0.925 0.236 L -0.25 0.670 T -1.16 0.297 N 0.028 0.009 -1.066 0.104 T 0.001 0.002 T . . . 1.523 0.245 13.43 0.936 0.228 0.306 0.239 N c -1.024 -1.018 0.001 0.077 0.672 0.522 0 -0.426 0.116 0.959 0.286 -0.249 0.090 0.865 0.305 0.024 0.140 10.313 0.427 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.0738 0.1605 0.0404 0.0566 0.0001 0.0578 0.0788 0.0742 0.1107 0.0929 0.1643 0.0346 0.0397 0.0006 0.0599 0.0744 0.0765 het 347.83 27 1 22167605 . C T 347.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.092;DP=27;Dels=0.00;FS=9.864;HRun=0;HaplotypeScore=0.9916;MQ=58.44;MQ0=0;MQRankSum=-1.480;QD=12.88;ReadPosRankSum=1.237;VQSLOD=3.6353;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,13:27:99:378,0,360 1 22168801 22168801 T C exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon68:c.A8986G:p.S2996G,HSPG2:NM_005529:exon68:c.A8983G:p.S2995G 0.089 0.18 0.053 . 0.068 0.11 0.0812 0.1832 0.0383 0 0.0614 0.0781 0.0727 0.1110 0.11 0.18 0.077 0.12 0.025 rs2229491 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000313160.1|RCV000370135.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.031 0.252 N 1 0.090 P 0.93 0.236 L 0.94 0.437 T 1.26 0.010 N 0.036 0.016 -1.020 0.237 T 0.000 0.000 T . . . -1.372 0.020 0.004 0.270 0.013 0.011 0.041 N c -1.431 -1.406 0.000 0.044 0.632 0.406 0 1.0 0.189 -0.183 0.096 -0.441 0.057 0.000 0.063 0.000 0.016 1.546 0.024 Immunoglobulin subtype 2|Immunoglobulin-like domain ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.0760 0.1809 0.0412 0.0568 0.0001 0.0585 0.0795 0.0773 0.1105 0.0975 0.1804 0.0346 0.0397 0.0006 0.0599 0.0745 0.0777 het 822.56 69 1 22168801 . T C 822.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.303;DP=69;Dels=0.00;FS=3.363;HRun=1;HaplotypeScore=1.7219;MQ=60.00;MQ0=0;MQRankSum=-0.367;QD=11.92;ReadPosRankSum=-0.150;VQSLOD=6.0626;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,32:69:99:853,0,935 1 22168845 22168845 A T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon68:c.T8942A:p.L2981H,HSPG2:NM_005529:exon68:c.T8939A:p.L2980H 0.034 0.0015 0.025 . 0.049 0.11 0.0560 0.0095 0.0258 0 0.0553 0.0606 0.0563 0.1160 0.04 0.0091 0.056 0.033 0.0082 rs2229489 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000262561.1|RCV000354940.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.446 0.126 N 1 0.090 N -0.895 0.014 N 1.03 0.405 T 2.3 0.003 N 0.052 0.034 -1.036 0.184 T 0.005 0.017 T . . . 0.574 0.149 7.972 0.263 0.013 0.180 0.199 N c -0.941 -0.733 0.001 0.085 0.632 0.406 0 4.95 0.648 3.368 0.518 0.088 0.194 0.998 0.411 0.772 0.328 10.134 0.417 Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000187942.7|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.0495 0.0082 0.0239 0.0421 0.0001 0.0439 0.0570 0.0479 0.1052 0.0378 0.0086 0.0191 0.0331 0 0.0470 0.0567 0.0562 het 604.76 50 1 22168845 . A T 604.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.486;DP=50;Dels=0.00;FS=12.025;HRun=0;HaplotypeScore=0.9665;MQ=59.25;MQ0=0;MQRankSum=1.175;QD=12.10;ReadPosRankSum=1.058;VQSLOD=3.7155;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,24:50:99:635,0,774 1 22174518 22174518 G T exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon60:c.C7809A:p.V2603V,HSPG2:NM_005529:exon60:c.C7806A:p.V2602V 0.035 0.0015 0.025 . 0.049 0.11 0.0511 0.0086 0.0225 0 0.0487 0.0558 0.0564 0.1060 0.041 0.0093 0.057 0.033 0.033 rs12737091 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000318918.1|RCV000375837.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0497 0.0082 0.0239 0.0421 0.0001 0.0439 0.0570 0.0495 0.1063 0.0375 0.0084 0.0191 0.0331 0 0.0467 0.0565 0.0542 het 662.05 56 1 22174518 . G T 662.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.783;DP=56;Dels=0.00;FS=3.480;HRun=1;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;MQRankSum=0.320;QD=11.82;ReadPosRankSum=0.386;VQSLOD=6.6048;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,26:56:99:692,0,861 1 22179244 22179244 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon52:c.G6676A:p.G2226S,HSPG2:NM_005529:exon52:c.G6673A:p.G2225S 0.035 0.0023 0.025 . 0.049 0.11 0.0509 0.0087 0.0222 0 0.0472 0.0558 0.0563 0.1050 0.041 0.0095 0.057 0.033 0.016 rs35669711 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000306325.1|RCV000398821.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.141 0.255 T 0.299 0.308 B 0.228 0.364 B 0.807 0.068 N 1 0.090 N 1.945 0.524 M -0.83 0.742 T -2.27 0.506 N 0.056 0.039 -0.861 0.512 T 0.072 0.293 T . . . 1.308 0.222 12.31 0.922 0.210 0.132 0.175 N c -0.638 -0.725 1.000 0.747 0.707 0.730 0 1.57 0.224 0.057 0.140 -1.623 0.009 0.000 0.063 0.000 0.016 8.045 0.295 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000187942.7|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.0498 0.0083 0.0240 0.0421 0.0001 0.0443 0.0571 0.0492 0.1064 0.0376 0.0086 0.0191 0.0331 0 0.0470 0.0564 0.0564 het 2949.57 195 1 22179244 . C T 2949.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.195;DP=195;DS;Dels=0.00;FS=0.714;HRun=0;HaplotypeScore=2.6493;MQ=59.53;MQ0=0;MQRankSum=0.666;QD=15.13;ReadPosRankSum=1.825;VQSLOD=5.2732;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,106:195:99:2980,0,2208 1 22179451 22179451 C T exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon51:c.G6555A:p.T2185T,HSPG2:NM_005529:exon51:c.G6552A:p.T2184T 0.035 0.0015 0.025 . 0.049 0.11 0.0512 0.0087 0.0223 0.0002 0.0475 0.0561 0.0567 0.1048 0.041 0.0095 0.057 0.033 0.0082 rs34443576 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000263025.1|RCV000318160.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0499 0.0084 0.0242 0.0421 0.0003 0.0442 0.0570 0.0495 0.1066 0.0377 0.0088 0.0191 0.0331 0 0.0464 0.0566 0.0562 het 779.32 77 1 22179451 . C T 779.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.429;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=0.202;QD=10.12;ReadPosRankSum=-0.377;VQSLOD=5.8927;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,32:77:99:809,0,1219 1 22180723 22180723 C T exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon50:c.G6405A:p.V2135V,HSPG2:NM_005529:exon50:c.G6402A:p.V2134V 0.035 0.0015 0.025 . 0.049 0.11 0.0895 0.0125 0.0502 0 0.1132 0.1021 0.0879 0.1323 0.039 0.0093 0.055 0.033 0.016 rs12742444 . . Benign|Likely benign|Likely benign not_specified|Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000289771.1|RCV000294008.1|RCV000330249.1 MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet CN169374|C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0477 0.0072 0.0234 0.0419 0.0001 0.0422 0.0542 0.0474 0.1050 0.0376 0.0086 0.0191 0.0331 0 0.0464 0.0563 0.0560 het 129.55 11 1 22180723 . C T 129.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DP=11;Dels=0.00;FS=2.430;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.717;QD=11.78;ReadPosRankSum=1.532;VQSLOD=5.9205;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,6:11:99:160,0,117 1 22181895 22181895 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon47:c.G5902A:p.V1968I,HSPG2:NM_005529:exon47:c.G5899A:p.V1967I 0.035 0.0015 0.025 . 0.05 0.11 0.0536 0.0092 0.0238 0 0.0532 0.0580 0.0615 0.1125 0.041 0.0093 0.057 0.043 0.025 rs2229475 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000339647.1|RCV000375538.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . 0.191 0.210 T 0.998 0.715 D 0.995 0.818 D 0.003 0.359 N 0.994 0.421 D 1.5 0.380 L -0.47 0.701 T -0.58 0.174 N 0.153 0.182 -0.638 0.632 T 0.090 0.345 T . . . 4.547 0.609 24.3 0.997 0.785 0.814 0.405 D c 0.411 0.383 1.000 0.747 0.672 0.522 0 5.12 0.693 1.934 0.396 0.852 0.362 0.992 0.373 0.958 0.437 16.043 0.804 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000187942.7|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.0492 0.0080 0.0238 0.0418 0.0001 0.0435 0.0563 0.0496 0.1058 0.0375 0.0085 0.0191 0.0298 0 0.0464 0.0564 0.0562 het 289.98 35 1 22181895 . C T 289.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.097;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=0.577;QD=8.29;ReadPosRankSum=0.122;VQSLOD=6.0116;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,14:35:99:320,0,570 1 22191454 22191454 G A exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon36:c.C4511T:p.A1504V,HSPG2:NM_005529:exon36:c.C4508T:p.A1503V 0.69 0.59 0.78 0.89 0.73 0.53 0.7463 0.6525 0.8269 0.9042 0.7712 0.7581 0.7778 0.6023 0.7 0.62 0.74 0.71 0.5 rs897471 COSM3750893 1(pancreas);1(thyroid);1(upper_aerodigestive_tract);6(large_intestine) Benign|Benign|Benign Schwartz_Jampel_syndrome_type_1|not_specified|Dyssegmental_Dysplasia RCV000274418.1|RCV000299057.1|RCV000371265.1 MedGen:OMIM:Orphanet|MedGen|MedGen:Orphanet C0036391:255800:ORPHA800|CN169374|C1857100:ORPHA1865 . . . . . . 0.056 0.381 T 1.0 0.899 D 0.997 0.850 D 0.002 0.381 N 0.999 0.214 P 2.045 0.562 M 1.27 0.361 T -3.11 0.636 D 0.088 0.084 -1.100 0.041 T 0.000 0.000 T . . . 3.682 0.500 23.3 0.999 0.972 0.459 0.274 N c -0.002 -0.161 1.000 0.500 0.672 0.522 0 4.37 0.517 4.315 0.587 0.998 0.613 0.998 0.411 0.536 0.277 12.819 0.569 Laminin IV . . 0.7312 0.6118 0.8066 0.7424 0.8933 0.7495 0.7348 0.7578 0.5761 0.7093 0.6147 0.7900 0.7384 0.9 0.7334 0.7329 0.7074 het 103.60 16 1 22191454 . G A 103.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.674;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9330;MQ=57.05;MQ0=0;MQRankSum=-0.061;QD=6.48;ReadPosRankSum=1.286;VQSLOD=2.7454;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,5:16:99:134,0,291 1 22206649 22206649 T C exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon17:c.A2297G:p.N766S,HSPG2:NM_005529:exon17:c.A2294G:p.N765S 0.93 0.75 0.98 1. 1. 1. 0.9811 0.7916 0.9923 1 1 0.9996 0.9868 0.9997 0.94 0.81 1. 0.88 0.99 rs989994 . . Benign|Benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000317586.1|RCV000372262.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.246 0.173 T 0.003 0.102 B 0.016 0.166 B 0.016 0.281 N 0.002 0.449 P 1.425 0.359 L 0.11 0.612 T -1.88 0.439 N 0.082 0.075 -0.967 0.378 T 0.000 0.000 T . . . 2.117 0.315 16.97 0.993 0.594 0.821 0.411 D c -0.124 0.050 1.000 0.747 0.707 0.730 0 5.38 0.772 0.800 0.265 0.964 0.580 1.000 0.715 1.000 0.888 13.348 0.599 Laminin EGF domain . . 0.9849 0.7857 0.9903 1 1 1 0.9996 0.9916 0.9995 0.9404 0.7918 0.9857 1 0.9988 1 0.9994 0.9939 hom 2604.58 83 1 22206649 . T C 2604.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.357;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9789;MQ=59.42;MQ0=0;MQRankSum=1.690;QD=31.38;ReadPosRankSum=1.315;VQSLOD=7.8585;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,82:83:99:2638,181,0 1 22206942 22206942 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon16:c.C2112T:p.A704A,HSPG2:NM_005529:exon16:c.C2109T:p.A703A 0.93 0.75 0.98 1. 1. 1. 0.9812 0.7924 0.9923 1 1 0.9996 0.9867 0.9998 0.94 0.81 1. 0.89 0.99 rs1874793 COSM4143367 1(thyroid) Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000282418.1|RCV000318734.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9850 0.7860 0.9903 1 1 1 0.9996 0.9916 0.9996 0.9405 0.7921 0.9857 1 0.9981 1 0.9994 0.9939 hom 1683.29 54 1 22206942 . G A 1683.29 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=59.14;MQ0=0;QD=31.17;VQSLOD=9.4576;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:54:99:1716,132,0 1 22207235 22207235 T C exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon15:c.A1915G:p.M639V,HSPG2:NM_005529:exon15:c.A1912G:p.M638V 0.97 0.9 0.99 1. 1. 1. 0.9931 0.9216 0.9971 1 1 0.9997 0.9985 1 0.98 0.93 1. 0.94 0.79 rs1874792 . . Benign|Benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000260399.1|RCV000296869.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.062 0.221 N 1.000 0.198 P -2.085 0.002 N 1.34 0.348 T 1.09 0.013 N 0.016 0.003 -0.979 0.352 T 0.000 0.000 T . . . -1.579 0.015 0.002 0.341 0.021 0.174 0.196 N c -1.163 -0.925 0.962 0.286 0.672 0.522 0 3.56 0.397 1.148 0.310 -0.425 0.059 0.757 0.290 0.008 0.104 7.569 0.269 Laminin IV . . 0.9946 0.9186 0.9965 1 1 1 0.9997 0.9970 0.9999 0.9785 0.9254 0.9916 1 0.9994 1 0.9996 0.9990 hom 454.51 15 1 22207235 . T C 454.51 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.30;VQSLOD=13.9582;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:488,39,0 1 22214127 22214127 A G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon8:c.T744C:p.L248L,HSPG2:NM_005529:exon8:c.T744C:p.L248L 0.54 0.71 0.58 0.65 0.32 0.38 0.4175 0.6406 0.5977 0.6264 0.3508 0.3354 0.4011 0.4014 0.43 0.63 0.32 0.5 0.34 rs2229478 COSM3750895;COSM3750894 3(large_intestine) Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000267416.1|RCV000317902.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . 0.0 0.912 D 0.001 0.067 B 0.001 0.040 B 0.682 0.102 N 1.000 0.090 P . . . 0.45 0.565 T 0.18 0.050 N . . -0.946 0.417 T 0.000 0.000 T . . . -0.843 0.038 0.034 0.896 0.184 0.061 0.120 N c -1.402 -1.444 0.998 0.365 0.672 0.522 0 0.117 0.139 -1.838 0.018 -0.948 0.024 0.000 0.063 0.000 0.016 0.623 0.007 . . . 0.4167 0.6396 0.5795 0.2545 0.6254 0.3575 0.3335 0.4032 0.4041 0.4500 0.6428 0.5373 0.2285 0.6445 0.3805 0.3370 0.3857 het 2030.21 163 1 22214127 . A G 2030.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.557;DP=163;Dels=0.00;FS=1.251;HRun=0;HaplotypeScore=1.6281;MQ=59.32;MQ0=0;MQRankSum=2.023;QD=12.46;ReadPosRankSum=0.616;VQSLOD=5.5305;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,81:163:99:2060,0,2196 1 22216604 22216604 C G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon6:c.G444C:p.L148L,HSPG2:NM_005529:exon6:c.G444C:p.L148L 0.44 0.22 0.42 0.35 0.68 0.62 0.5770 0.2937 0.3976 0.3732 0.6487 0.6657 0.5960 0.6000 0.55 0.3 0.68 0.46 0.65 rs2254357 COSM3997260;COSM3997259 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000295447.1|RCV000352676.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.243 0.175 T 0.946 0.514 P 0.509 0.461 P . . . 0.000 0.810 P . . . 0.56 0.546 T 0.76 0.020 N . . -1.050 0.143 T 0.000 0.000 T . . . 1.275 0.218 12.14 0.917 0.204 0.915 0.533 D c 0.227 0.286 1.000 0.747 0.672 0.522 0 4.5 0.542 1.139 0.309 0.935 0.490 1.000 0.715 0.992 0.562 14.050 0.641 . . . 0.5796 0.2904 0.4157 0.7461 0.3750 0.6427 0.6673 0.5947 0.5970 0.5299 0.2865 0.4606 0.7733 0.3559 0.6195 0.6626 0.6148 het 2391.28 243 1 22216604 . C G 2391.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.753;DP=243;DS;Dels=0.00;FS=5.372;HRun=0;HaplotypeScore=8.9823;MQ=59.23;MQ0=0;MQRankSum=-0.010;QD=9.84;ReadPosRankSum=2.176;VQSLOD=2.7482;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:146,97:243:99:2421,0,4144 1 22217108 22217108 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon4:c.C324T:p.F108F,HSPG2:NM_005529:exon4:c.C324T:p.F108F 0.95 0.81 0.98 1. 1. 1. 0.9861 0.8475 0.9944 1 1 0.9996 0.9879 0.9998 0.95 0.87 1. 0.91 1. rs2501260 . . Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000289547.1|RCV000406389.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9891 0.8440 0.9936 1 1 1 0.9997 0.9933 0.9997 0.9559 0.8462 0.9881 1 1 1 0.9996 0.9939 hom 6782.90 224 1 22217108 . G A 6782.90 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.5304;MQ=58.87;MQ0=0;QD=30.28;VQSLOD=5.8944;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:224:99:6782,539,0 1 22307538 22307538 C T exonic CELA3B nonsynonymous SNV CELA3B:NM_007352:exon4:c.C235T:p.R79W 0.89 0.84 0.96 0.76 0.99 0.95 0.9555 0.8584 0.9437 0.7490 0.9991 0.9922 0.9659 0.9672 0.95 0.86 0.99 0.84 0.98 rs7528405 COSM3997262;COSM3997263 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.148 0.386 T 0.962 0.536 D 0.598 0.488 P 0.718 0.100 N 1 0.090 P 1.5 0.380 L -2.49 0.892 D -4.64 0.836 D 0.156 0.503 -0.923 0.452 T 0.000 0.000 T . . . 1.946 0.295 15.87 0.995 0.687 0.107 0.160 N c -0.383 -0.621 0.000 0.012 0.526 0.212 0 -0.773 0.104 -0.489 0.065 0.022 0.145 0.000 0.063 0.011 0.114 1.847 0.029 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9574 0.8590 0.9470 0.9736 0.7494 0.9990 0.9933 0.9712 0.9662 0.9435 0.8638 0.9547 0.9669 0.7531 0.9983 0.9939 0.9826 hom 3947.76 120 1 22307538 . C T 3947.76 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=56.30;MQ0=0;QD=32.90;VQSLOD=8.0145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3948,304,0 1 22310725 22310725 G C exonic CELA3B synonymous SNV CELA3B:NM_007352:exon6:c.G543C:p.P181P . . . . . . 0.9105 0.7430 0.9219 0.7487 0.9311 0.9437 0.9084 0.9502 0.88 0.76 0.94 0.79 0.93 rs3820287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9146 0.7416 0.9219 0.9590 0.7495 0.9307 0.9446 0.9236 0.9490 0.8761 0.7525 0.9356 0.9570 0.7540 0.9321 0.9388 0.9427 hom 4126.63 123 1 22310725 . G C 4126.63 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7870;MQ=54.49;MQ0=0;QD=33.55;VQSLOD=3.8803;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4126,343,0 1 22313161 22313161 T C exonic CELA3B synonymous SNV CELA3B:NM_007352:exon7:c.T780C:p.I260I 0.88 0.79 0.95 0.76 0.99 0.96 0.9510 0.8078 0.9393 0.7505 0.9991 0.9915 0.9570 0.9710 0.93 0.81 0.99 0.76 1. rs1803530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9537 0.8067 0.9420 0.9744 0.7528 0.9990 0.9925 0.9671 0.9695 0.9273 0.8077 0.9545 0.9669 0.7547 0.9983 0.9929 0.9794 hom 2492.37 85 1 22313161 . T C 2492.37 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=43.80;MQ0=1;QD=29.32;VQSLOD=2.5593;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2525,217,0 1 22336277 22336277 C G exonic CELA3A nonsynonymous SNV CELA3A:NM_005747:exon7:c.C722G:p.A241G 0.9 0.9 0.9 0.74 0.98 0.95 0.9449 0.9252 0.8616 0.7543 0.9779 0.9784 0.9515 0.9657 0.96 0.92 0.98 0.85 0.98 rs3820285 COSM4143379 1(thyroid) . . . . . . . . . . . 0.47 0.085 T 0.0 0.026 B 0.004 0.093 B . . . 1 0.090 P -1.87 0.003 N 2.27 0.174 T 0.57 0.087 N 0.061 0.065 -0.994 0.316 T 0.000 0.000 T . . . -0.758 0.042 0.053 0.579 0.057 0.042 0.096 N c -1.318 -1.312 0.000 0.012 0.570 0.322 0 1.71 0.233 -0.043 0.119 -0.545 0.048 0.000 0.063 0.001 0.043 11.399 0.489 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9415 0.9244 0.8665 0.9685 0.7542 0.9781 0.9782 0.9527 0.9651 0.9507 0.9272 0.8864 0.96 0.7566 0.9797 0.9804 0.9702 hom 2806.68 89 1 22336277 . C G 2806.68 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.575;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7792;MQ=56.96;MQ0=0;MQRankSum=1.653;QD=31.54;ReadPosRankSum=1.142;VQSLOD=5.0463;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,88:89:99:2840,199,0 1 22835677 22835677 A G exonic ZBTB40 nonsynonymous SNV ZBTB40:NM_001330398:exon7:c.A1448G:p.Y483C,ZBTB40:NM_014870:exon9:c.A1784G:p.Y595C,ZBTB40:NM_001083621:exon10:c.A1784G:p.Y595C 0.82 0.94 0.84 0.89 0.72 0.69 0.7648 0.9102 0.8960 0.8982 0.7065 0.7209 0.7302 0.7137 0.78 0.9 0.72 0.88 0.75 rs209729 COSM3746832 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . 0.421 0.105 T 0.0 0.026 B 0.0 0.013 B 0.668 0.104 N 1 0.090 P -0.345 0.033 N 1.03 0.405 T 0.9 0.022 N 0.033 0.019 -1.050 0.144 T 0.000 0.000 T . . . 0.229 0.116 4.977 0.275 0.014 0.035 0.086 N c -1.416 -1.358 0.001 0.078 0.707 0.730 0 0.925 0.185 0.226 0.174 -0.827 0.030 0.006 0.172 0.000 0.016 2.866 0.052 . ENSG00000184677.12 Whole_Blood 0.7662 0.9142 0.8848 0.7503 0.8973 0.7111 0.7171 0.7465 0.7166 0.7793 0.9106 0.8816 0.7550 0.8813 0.7093 0.7054 0.7418 hom 5609.42 170 1 22835677 . A G 5609.42 Mask AC=2;AF=1.00;AN=2;DP=170;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5313;MQ=59.04;MQ0=0;QD=33.00;VQSLOD=7.9411;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,169:170:99:5609,433,0 1 22846709 22846709 G A exonic ZBTB40 nonsynonymous SNV ZBTB40:NM_001330398:exon12:c.G2653A:p.V885M,ZBTB40:NM_014870:exon14:c.G2989A:p.V997M,ZBTB40:NM_001083621:exon15:c.G2989A:p.V997M 1. 1. 1. 1. 0.99 1. 0.9970 0.9992 0.9979 1 0.9976 0.9955 0.9967 0.9992 1. 1. 0.99 1. 0.99 rs209720 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.040 B 0.000 0.629 N 1.000 0.189 P -0.465 0.027 N 3.53 0.049 T 1.03 0.015 N 0.085 0.080 -0.944 0.420 T 0.000 0.000 T . . . 1.673 0.262 14.26 0.844 0.147 0.389 0.259 N c -0.502 -0.249 0.383 0.200 0.707 0.730 0 5.79 0.917 1.868 0.389 -0.113 0.115 1.000 0.715 0.998 0.697 8.282 0.309 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9969 0.9992 0.9973 0.9996 1 0.9985 0.9949 0.9960 0.9993 0.9972 0.9991 0.9988 0.9967 1 0.9994 0.9951 0.9980 hom 5531.98 162 1 22846709 . G A 5531.98 Mask AC=2;AF=1.00;AN=2;DP=162;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8127;MQ=59.25;MQ0=0;QD=34.15;VQSLOD=8.4821;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5531,454,0 1 22852715 22852715 G C exonic ZBTB40 synonymous SNV ZBTB40:NM_001330398:exon16:c.G3210C:p.P1070P,ZBTB40:NM_014870:exon18:c.G3546C:p.P1182P,ZBTB40:NM_001083621:exon19:c.G3546C:p.P1182P 0.32 0.12 0.22 0.47 0.39 0.42 0.3422 0.1588 0.1585 0.4547 0.3439 0.3677 0.3532 0.4232 0.3 0.16 0.37 0.27 0.38 rs881646 COSM3746849 1(liver);1(large_intestine);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3392 0.1518 0.1762 0.3631 0.4569 0.3349 0.3727 0.3245 0.4210 0.2967 0.1588 0.2363 0.3510 0.4702 0.3381 0.3470 0.3592 het 1147.88 91 1 22852715 . G C 1147.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.111;DP=91;Dels=0.00;FS=7.979;HRun=2;HaplotypeScore=3.2388;MQ=59.08;MQ0=0;MQRankSum=2.187;QD=12.61;ReadPosRankSum=0.413;VQSLOD=3.6995;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,41:91:99:1178,0,1300 1 22852880 22852880 G C exonic ZBTB40 nonsynonymous SNV ZBTB40:NM_001330398:exon16:c.G3375C:p.E1125D,ZBTB40:NM_014870:exon18:c.G3711C:p.E1237D,ZBTB40:NM_001083621:exon19:c.G3711C:p.E1237D 0.026 0.0015 0.019 . 0.037 0.082 0.0362 0.0043 0.0162 0.0003 0.0467 0.0398 0.0396 0.0704 0.026 0.007 0.035 0.022 0.074 rs45502998 . . . . . . . . . . . . . 0.097 0.309 T 0.884 0.466 P 0.507 0.460 P 0.000 0.559 D 0.747 0.339 D 1.645 0.421 L 2.97 0.095 T -0.3 0.134 N 0.076 0.067 -1.031 0.201 T 0.007 0.023 T . . . 2.379 0.347 18.68 0.992 0.556 0.930 0.569 D c 0.124 0.182 0.052 0.149 0.707 0.730 0 3.74 0.419 1.701 0.372 1.048 0.713 1.000 0.715 1.000 0.888 7.607 0.271 . . . 0.0357 0.0037 0.0155 0.0420 0.0001 0.0498 0.0381 0.0414 0.0719 0.0334 0.0063 0.0107 0.0397 0.0006 0.0461 0.0502 0.0440 het 1769.29 167 1 22852880 . G C 1769.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.925;DP=167;Dels=0.00;FS=0.624;HRun=0;HaplotypeScore=4.1049;MQ=59.25;MQ0=0;MQRankSum=0.350;QD=10.59;ReadPosRankSum=0.477;VQSLOD=5.4406;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:91,76:167:99:1799,0,2540 1 22919904 22919904 C T exonic EPHA8 synonymous SNV EPHA8:NM_020526:exon6:c.C1401T:p.N467N 0.34 0.39 0.35 0.17 0.27 0.49 0.3741 0.4274 0.4974 0.2416 0.3275 0.3243 0.3664 0.5017 0.29 0.38 0.24 0.33 0.21 rs209696 COSM5019394 1(breast);8(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3025 0.3761 0.4058 0.2770 0.1955 0.2208 0.2476 0.2915 0.4755 0.2786 0.3716 0.3945 0.2781 0.1920 0.2352 0.2390 0.2571 het 160.63 12 1 22919904 . C T 160.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.588;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9950;MQ=58.43;MQ0=0;MQRankSum=0.779;QD=13.39;ReadPosRankSum=-0.259;VQSLOD=6.0895;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:191,0,154 1 23219493 23219493 T C exonic EPHB2 synonymous SNV EPHB2:NM_001309192:exon7:c.T1545C:p.G515G,EPHB2:NM_001309193:exon7:c.T1545C:p.G515G,EPHB2:NM_004442:exon7:c.T1545C:p.G515G,EPHB2:NM_017449:exon7:c.T1545C:p.G515G 1. 1. 1. 1. 0.99 1. 0.9963 0.9986 0.9984 1 0.9973 0.9943 0.9978 0.9993 0.99 1. 0.99 1. 1. rs309472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9988 0.9977 0.9976 1 0.9985 0.9940 0.9967 0.9995 0.9968 0.9994 0.9952 0.9934 1 0.9997 0.9943 0.9969 hom 3368.67 111 1 23219493 . T C 3368.67 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.575;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5568;MQ=59.46;MQ0=0;MQRankSum=0.094;QD=30.35;ReadPosRankSum=0.850;VQSLOD=8.9784;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,110:111:99:3346,259,0 1 23418153 23418153 C T exonic LUZP1 nonsynonymous SNV LUZP1:NM_001142546:exon3:c.G2602A:p.D868N,LUZP1:NM_033631:exon4:c.G2602A:p.D868N 0.75 0.84 0.62 0.81 0.83 0.56 0.7686 0.8271 0.4946 0.8123 0.8809 0.8373 0.8073 0.5760 0.83 0.82 0.83 0.78 0.84 rs10799790 COSM5002336 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.292 N 1 0.090 P -2.34 0.001 N 2.87 0.128 T 0.95 0.017 N 0.005 0.001 -1.004 0.288 T 0.000 0.000 T . . . 0.983 0.188 10.56 0.825 0.137 0.002 0.014 N c -1.299 -1.075 0.996 0.343 0.707 0.730 0 2.74 0.312 1.187 0.315 0.117 0.209 0.958 0.332 0.989 0.536 6.231 0.198 . ENSG00000215906.4 Testis 0.7612 0.8281 0.5228 0.8027 0.8111 0.8840 0.8367 0.7749 0.5824 0.8353 0.8253 0.5719 0.8311 0.8161 0.8912 0.8452 0.8282 hom 5300.49 175 1 23418153 . C T 5300.49 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3403;MQ=59.18;MQ0=0;QD=30.29;VQSLOD=7.7097;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5300,421,0 1 23418803 23418803 G C exonic LUZP1 nonsynonymous SNV LUZP1:NM_001142546:exon3:c.C1952G:p.S651C,LUZP1:NM_033631:exon4:c.C1952G:p.S651C 0.0034 0.0008 0.0029 . 0.014 . 0.0092 0.0026 0.0025 0 0.0221 0.0133 0.0154 0.0010 0.01 0.0034 0.014 0.022 . rs35645814 COSM3746865 1(liver) . . . . . . . . . . . 0.006 0.614 D 0.003 0.102 B 0.003 0.080 B 0.287 0.148 N 1.000 0.090 N 2.24 0.636 M 2.52 0.170 T -1.91 0.444 N 0.061 0.246 -1.015 0.255 T 0.025 0.105 T . . . 2.057 0.308 16.58 0.968 0.305 0.302 0.238 N c -0.606 -0.593 0.998 0.364 0.707 0.730 0 1.62 0.227 1.106 0.305 1.045 0.669 0.049 0.212 1.000 0.888 3.666 0.077 . . . 0.0092 0.0021 0.0030 0.0074 0 0.0216 0.0134 0.0111 0.0008 0.0103 0.0022 0.0012 0.0066 0 0.0252 0.0133 0.0092 het 4616.87 250 1 23418803 . G C 4616.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.604;DP=250;DS;Dels=0.00;FS=2.835;HRun=0;HaplotypeScore=3.5919;MQ=59.76;MQ0=0;MQRankSum=-0.767;QD=18.47;ReadPosRankSum=0.879;VQSLOD=4.3852;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,135:250:99:3969,0,3125 1 23419261 23419261 G A exonic LUZP1 synonymous SNV LUZP1:NM_001142546:exon3:c.C1494T:p.S498S,LUZP1:NM_033631:exon4:c.C1494T:p.S498S 0.69 0.64 0.59 0.81 0.83 0.56 0.7529 0.6559 0.4889 0.8124 0.8811 0.8364 0.7996 0.5764 0.77 0.66 0.83 0.69 0.81 rs477717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7484 0.6496 0.5150 0.7987 0.8110 0.8840 0.8358 0.7671 0.5823 0.7853 0.6531 0.5526 0.8278 0.8167 0.8912 0.8437 0.8219 hom 7673.38 250 1 23419261 . G A 7673.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.704;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8300;MQ=59.33;MQ0=0;MQRankSum=-0.182;QD=30.69;ReadPosRankSum=-0.880;VQSLOD=9.4121;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,247:250:99:7672,635,0 1 23419374 23419374 G T exonic LUZP1 nonsynonymous SNV LUZP1:NM_001142546:exon3:c.C1381A:p.Q461K,LUZP1:NM_033631:exon4:c.C1381A:p.Q461K 0.68 0.59 0.59 0.81 0.83 0.56 0.7490 0.6118 0.4871 0.8119 0.8811 0.8364 0.7996 0.5760 0.76 0.62 0.83 0.66 0.77 rs3765407 . . . . . . . . . . . . . 0.065 0.363 T 0.403 0.384 B 0.082 0.303 B 0.076 0.212 N 1.000 0.196 P 2.28 0.651 M 2.7 0.147 T -0.58 0.245 N 0.072 0.319 -1.097 0.045 T 0.000 0.000 T . . . 1.206 0.211 11.78 0.961 0.280 0.961 0.672 D c 0.150 0.235 1.000 0.489 0.707 0.730 0 3.97 0.451 2.989 0.488 1.048 0.713 0.657 0.280 0.971 0.463 13.124 0.586 . ENSG00000215906.4 Testis 0.7452 0.6056 0.5129 0.7982 0.8113 0.8838 0.8358 0.7656 0.5821 0.7712 0.6063 0.5525 0.8333 0.8157 0.8910 0.8428 0.8124 hom 7874.68 227 1 23419374 . G T 7874.68 Mask AC=2;AF=1.00;AN=2;DP=227;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5345;MQ=58.81;MQ0=0;QD=34.69;VQSLOD=9.4876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,227:227:99:7874,629,0 1 23419383 23419383 C T exonic LUZP1 nonsynonymous SNV LUZP1:NM_001142546:exon3:c.G1372A:p.G458S,LUZP1:NM_033631:exon4:c.G1372A:p.G458S 0.69 0.64 0.59 0.81 0.83 0.56 0.7530 0.6560 0.4886 0.8125 0.8808 0.8365 0.7996 0.5767 0.77 0.66 0.83 0.69 0.75 rs477830 . . . . . . . . . . . . . 0.183 0.231 T 0.038 0.196 B 0.012 0.149 B 0.000 0.491 D 1 0.090 P 2.485 0.726 M 2.59 0.158 T -0.06 0.079 N 0.104 0.211 -1.062 0.113 T 0.000 0.000 T . . . 1.118 0.202 11.31 0.995 0.695 0.178 0.198 N c -0.641 -0.621 1.000 0.500 0.707 0.730 0 3.97 0.451 1.564 0.358 0.935 0.490 0.019 0.194 0.665 0.302 12.789 0.567 . ENSG00000215906.4 Testis 0.7483 0.6493 0.5148 0.7983 0.8113 0.8839 0.8359 0.7663 0.5823 0.7844 0.6525 0.5514 0.8322 0.8164 0.8909 0.8427 0.8200 hom 8297.99 241 1 23419383 . C T 8297.99 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8215;MQ=58.88;MQ0=0;QD=34.43;VQSLOD=8.5651;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,240:241:99:8297,659,0 1 23419855 23419855 T C exonic LUZP1 synonymous SNV LUZP1:NM_001142546:exon3:c.A900G:p.T300T,LUZP1:NM_033631:exon4:c.A900G:p.T300T 0.75 0.84 0.62 0.81 0.83 0.56 0.7691 0.8299 0.4961 0.8113 0.8809 0.8376 0.8073 0.5766 0.83 0.82 0.83 0.79 0.84 rs1983965 COSM5420058 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7619 0.8311 0.5239 0.8030 0.8111 0.8839 0.8366 0.7757 0.5824 0.8359 0.8277 0.5730 0.8311 0.8177 0.8914 0.8450 0.8289 hom 6629.53 216 1 23419855 . T C 6629.53 Mask AC=2;AF=1.00;AN=2;DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8078;MQ=59.66;MQ0=0;QD=30.69;VQSLOD=7.5059;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:6628,530,0 1 23688933 23688933 A G exonic ZNF436 synonymous SNV ZNF436:NM_030634:exon3:c.T942C:p.N314N,ZNF436:NM_001077195:exon4:c.T942C:p.N314N 0.51 0.19 0.65 0.63 0.73 0.5 0.6487 0.2577 0.6241 0.6406 0.7299 0.7337 0.6586 0.5402 0.58 0.28 0.73 0.45 0.73 rs2849028 COSM5420061 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6596 0.2513 0.6384 0.7575 0.6325 0.7354 0.7327 0.6892 0.5443 0.5957 0.2594 0.6427 0.7583 0.6455 0.7497 0.7373 0.6953 hom 6661.30 196 1 23688933 . A G 6661.30 Mask AC=2;AF=1.00;AN=2;DP=196;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1365;MQ=59.22;MQ0=0;QD=33.99;VQSLOD=9.5428;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,196:196:99:6661,527,0 1 23763449 23763449 G A exonic ASAP3 synonymous SNV ASAP3:NM_001143778:exon14:c.C1404T:p.R468R,ASAP3:NM_017707:exon15:c.C1431T:p.R477R 0.05 0.012 0.06 . 0.1 0.089 0.0884 0.0256 0.0458 0.0002 0.1289 0.1141 0.0792 0.0848 0.074 0.027 0.098 0.033 0.16 rs115515935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0832 0.0229 0.0462 0.1184 0.0001 0.1148 0.1062 0.0913 0.0840 0.0745 0.0194 0.0513 0.0933 0.0006 0.1140 0.1042 0.1049 het 138.88 21 1 23763449 . G A 138.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.571;DP=21;Dels=0.00;FS=2.884;HRun=0;HaplotypeScore=0.8941;MQ=59.11;MQ0=0;MQRankSum=0.253;QD=6.61;ReadPosRankSum=-0.471;VQSLOD=5.2603;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,8:21:99:169,0,379 1 23847464 23847464 C A exonic E2F2 nonsynonymous SNV E2F2:NM_004091:exon4:c.G678T:p.Q226H 0.36 0.062 0.41 0.6 0.51 0.3 0.4514 0.1134 0.3623 0.6199 0.5781 0.5112 0.4570 0.3455 0.38 0.13 0.5 0.35 0.57 rs2075995 COSM3746872 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.44 0.092 T 0.985 0.592 D 0.669 0.512 P 0.000 0.457 D 0.024 0.392 P 2.15 0.603 M -2.0 0.854 D -1.61 0.387 N 0.132 0.152 -0.876 0.501 T 0.000 0.000 T . . . 4.114 0.552 23.8 0.996 0.717 0.775 0.378 D c 0.311 0.335 1.000 0.747 0.707 0.730 0 5.06 0.677 0.078 0.145 0.935 0.490 0.960 0.334 1.000 0.888 14.136 0.647 E2F transcription factor\x2c CC-MB domain ENSG00000204219.5|ENSG00000088280.14 Cells_Transformed_fibroblasts|Muscle_Skeletal 0.4550 0.1073 0.3645 0.4939 0.6122 0.5749 0.5072 0.4605 0.3486 0.4144 0.1110 0.3804 0.4503 0.6084 0.5833 0.5265 0.4969 het 1088.69 100 1 23847464 . C A 1088.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.180;DP=100;Dels=0.00;FS=2.749;HRun=0;HaplotypeScore=4.2716;MQ=59.77;MQ0=0;MQRankSum=-0.007;QD=10.89;ReadPosRankSum=-0.285;VQSLOD=5.5941;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,43:100:99:1119,0,1589 1 23885498 23885498 T C exonic ID3 nonsynonymous SNV ID3:NM_002167:exon2:c.A313G:p.T105A 0.89 0.99 0.74 0.97 0.76 0.92 0.8037 0.9508 0.7009 0.9754 0.6796 0.7620 0.8142 0.9101 0.82 0.94 0.76 0.88 0.77 rs11574 . . . . . . . . . . . . . 0.865 0.026 T 0.0 0.026 B 0.0 0.013 B 0.902 0.086 N 1 0.090 P -0.205 0.041 N -0.56 0.712 T 0.23 0.046 N 0.016 0.003 -0.986 0.337 T 0.000 0.000 T . . . -2.559 0.003 0.001 0.525 0.047 0.009 0.034 N c -1.707 -1.664 1.000 0.747 0.628 0.401 0 -2.76 0.055 -0.496 0.065 -1.609 0.009 0.000 0.063 0.145 0.203 4.909 0.131 . ENSG00000117318.8 Thyroid 0.7958 0.9544 0.7008 0.8988 0.9759 0.6854 0.7563 0.8021 0.9087 0.8086 0.9543 0.7303 0.9040 0.9746 0.6847 0.7405 0.7541 het 357.74 41 1 23885498 . T C 357.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.913;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=0.569;QD=8.73;ReadPosRankSum=-0.040;VQSLOD=6.6794;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,17:41:99:388,0,665 1 23965704 23965704 A C exonic MDS2 nonsynonymous SNV MDS2:NM_001348075:exon5:c.A109C:p.N37H 0.27 0.076 0.4 0.43 0.25 0.32 0.2848 0.1113 0.5187 0.4485 0.2446 0.2374 0.3056 0.3236 0.2 0.12 0.24 0.22 . rs10917403 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . 3.67 0.001 N 0.05 0.031 -0.954 0.404 T 0.000 0.000 T . . . -1.338 0.021 0.004 0.137 0.003 0.002 0.013 N c -0.807 -1.007 1.000 0.747 0.516 0.203 0 1.19 0.200 -0.884 0.042 -0.238 0.093 0.000 0.063 0.000 0.016 6.825 0.229 . . . 0.2901 0.1004 0.5002 0.2481 0.4397 0.2454 0.2337 0.2944 0.3090 0.2154 0.1022 0.4484 0.24 0.4637 0.2494 0.2318 0.2378 het 281.15 32 1 23965704 . A C 281.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.666;DP=32;Dels=0.00;FS=1.440;HRun=0;HaplotypeScore=3.8547;MQ=58.69;MQ0=0;MQRankSum=0.409;QD=8.79;ReadPosRankSum=0.058;VQSLOD=5.8618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,12:32:99:311,0,556 1 24134721 24134721 T C exonic HMGCL synonymous SNV HMGCL:NM_001166059:exon5:c.A441G:p.L147L,HMGCL:NM_000191:exon7:c.A654G:p.L218L 0.89 0.97 0.89 0.78 0.93 0.84 0.9042 0.9668 0.9007 0.7920 0.9631 0.9114 0.9108 0.8727 0.93 0.96 0.91 0.94 0.92 rs719400 . . Benign|Benign not_specified|Deficiency_of_hydroxymethylglutaryl-CoA_lyase RCV000078343.6|RCV000268428.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0268601:246450:124611007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9027 0.9674 0.8938 0.8706 0.7886 0.9592 0.9133 0.9081 0.8744 0.9306 0.9665 0.8816 0.8676 0.7829 0.9590 0.9234 0.9216 hom 5451.38 157 1 24134721 . T C 5451.38 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.85;MQ0=0;QD=34.72;VQSLOD=9.4761;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5451,427,0 1 24201094 24201094 G C exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.C1014G:p.T338T 0.65 0.79 0.64 0.5 0.59 0.7 0.6190 0.7589 0.7110 0.5385 0.5712 0.5720 0.6454 0.7159 0.63 0.75 0.57 0.67 0.57 rs2229581 COSM146443 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6179 0.7608 0.6862 0.5762 0.5298 0.5828 0.5747 0.6141 0.7176 0.6301 0.7604 0.6611 0.5795 0.5161 0.5759 0.5822 0.5714 hom 7092.22 229 1 24201094 . G C 7092.22 Mask AC=2;AF=1.00;AN=2;DP=229;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5696;MQ=59.38;MQ0=0;QD=30.97;VQSLOD=7.7104;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,229:229:99:7091,566,0 1 24201109 24201109 C T exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.G999A:p.P333P 0.65 0.79 0.64 0.5 0.59 0.7 0.6190 0.7589 0.7112 0.5391 0.5712 0.5720 0.6454 0.7158 0.63 0.75 0.57 0.67 0.57 rs2229580 COSM146444 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6179 0.7608 0.6863 0.5762 0.5300 0.5829 0.5747 0.6141 0.7177 0.6302 0.7603 0.6603 0.5795 0.5155 0.5751 0.5829 0.5714 hom 7737.36 239 1 24201109 . C T 7737.36 Mask AC=2;AF=1.00;AN=2;DP=239;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=32.37;VQSLOD=9.2744;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,239:239:99:7737,602,0 1 24201262 24201262 A G exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.T846C:p.A282A 0.65 0.79 0.64 0.5 0.59 0.7 0.6190 0.7589 0.7113 0.5389 0.5716 0.5719 0.6457 0.7160 0.63 0.75 0.57 0.67 0.57 rs2502993 COSM146445 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6179 0.7609 0.6863 0.5761 0.5302 0.5828 0.5747 0.6141 0.7177 0.6303 0.7604 0.6611 0.5767 0.5161 0.5754 0.5827 0.5706 hom 5467.72 156 1 24201262 . A G 5467.72 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8073;MQ=59.85;MQ0=0;QD=35.05;VQSLOD=9.3355;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:5467,424,0 1 24201357 24201357 A G exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.T751C:p.L251L 0.65 0.79 0.64 0.5 0.59 0.7 0.6184 0.7587 0.7102 0.5370 0.5708 0.5712 0.6460 0.7159 0.63 0.75 0.57 0.67 0.57 rs4649124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6175 0.7610 0.6858 0.5758 0.5294 0.5824 0.5742 0.6136 0.7176 0.6307 0.7604 0.6627 0.5845 0.5173 0.5759 0.5830 0.5716 hom 3554.03 105 1 24201357 . A G 3554.03 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.19;MQ0=0;QD=33.85;VQSLOD=10.0554;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3554,277,0 1 24201448 24201448 C T exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.G660A:p.V220V 0.65 0.79 0.64 0.5 0.59 0.7 0.6191 0.7590 0.7111 0.5402 0.5708 0.5722 0.6477 0.7180 0.63 0.75 0.57 0.67 0.57 rs3003336 COSM146446 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6175 0.7607 0.6865 0.5758 0.5298 0.5828 0.5739 0.6148 0.7167 0.6303 0.7600 0.6611 0.5795 0.5174 0.5756 0.5828 0.5716 hom 2963.27 90 1 24201448 . C T 2963.27 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9815;MQ=59.26;MQ0=0;QD=32.93;VQSLOD=9.4669;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2996,244,0 1 24201643 24201643 G A exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.C465T:p.G155G 0.65 0.79 0.64 0.5 0.59 0.7 0.6198 0.7588 0.7117 0.5412 0.5716 0.5723 0.6460 0.7199 0.63 0.75 0.57 0.67 0.57 rs2501431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6181 0.7607 0.6867 0.5765 0.5305 0.5831 0.5746 0.6140 0.7178 0.6298 0.7601 0.6603 0.5833 0.5161 0.5757 0.5822 0.5694 hom 3172.23 98 1 24201643 . G A 3172.23 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9138;MQ=59.76;MQ0=0;QD=32.37;VQSLOD=8.9585;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3205,268,0 1 24201919 24201919 T C exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.A189G:p.Q63Q 0.65 0.8 0.64 0.5 0.59 0.7 0.6183 0.7586 0.7106 0.5381 0.5711 0.5711 0.6449 0.7157 0.61 0.73 0.55 . 0.49 rs2502992 COSM146447;COSM3751042 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6174 0.7610 0.6860 0.5763 0.5296 0.5825 0.5739 0.6136 0.7175 0.6287 0.7599 0.6603 0.5767 0.5126 0.5763 0.5800 0.5694 hom 4087.11 122 1 24201919 . T C 4087.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.241;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6198;MQ=58.43;MQ0=0;MQRankSum=1.472;QD=33.50;ReadPosRankSum=1.184;VQSLOD=7.6584;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,121:122:99:4055,299,0 1 24201920 24201920 T C exonic CNR2 nonsynonymous SNV CNR2:NM_001841:exon2:c.A188G:p.Q63R 0.65 0.79 0.64 0.5 0.59 0.7 0.6182 0.7575 0.7104 0.5376 0.5711 0.5711 0.6449 0.7156 0.61 0.73 0.55 . 0.5 rs2501432 COSM3927625;COSM146448 1(stomach);1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.091 0.203 N 1 0.090 P -1.57 0.005 N -0.51 0.706 T 1.29 0.010 N 0.016 0.004 -0.955 0.400 T 0.000 0.000 T . . . -1.464 0.018 0.003 0.171 0.005 0.101 0.155 N c -0.914 -0.698 1.000 0.427 0.461 0.090 0 5.12 0.693 1.470 0.347 0.069 0.176 0.445 0.263 0.124 0.197 8.677 0.332 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000179163.11|ENSG00000188822.6|ENSG00000179163.11 Heart_Left_Ventricle|Testis|Whole_Blood 0.6174 0.7605 0.6859 0.5762 0.5296 0.5826 0.5739 0.6135 0.7175 0.6282 0.7589 0.6619 0.5805 0.5100 0.5760 0.5796 0.5706 hom 4132.49 126 1 24201920 . T C 4132.49 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3187;MQ=58.48;MQ0=0;QD=32.80;VQSLOD=6.2836;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4132,349,0 1 24393563 24393563 C T exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon28:c.G3371A:p.R1124Q 0.28 0.49 0.16 0.2 0.14 0.31 0.3076 0.4715 0.3078 0.3267 0.3458 0.2557 0.2724 0.3271 0.21 0.36 0.14 0.26 0.19 rs16829071 COSM3751049;COSM3751050 2(thyroid);1(large_intestine) . . . . . . . . . . . 0.059 0.375 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.090 P 0 0.065 N 0.64 0.529 T 1.87 0.005 N 0.023 0.016 -0.981 0.348 T 0.000 0.000 T . . . 4.883 0.656 24.9 0.991 0.528 0.015 0.049 N c -0.559 -0.376 0.998 0.367 0.487 0.133 0 5.53 0.825 5.368 0.657 0.119 0.209 1.000 0.715 0.603 0.289 11.538 0.497 Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.1880 0.4006 0.1525 0.3030 0.1967 0.1129 0.1384 0.1957 0.2949 0.2034 0.3860 0.1938 0.2815 0.2144 0.1144 0.1198 0.1442 het 80.26 18 1 24393563 . C T 80.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.577;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;MQRankSum=1.676;QD=4.46;ReadPosRankSum=-1.774;VQSLOD=4.5083;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,5:18:99:110,0,341 1 24394811 24394811 A G exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon26:c.T3197C:p.I1066T 0.2 0.23 0.14 0.2 0.14 0.25 0.1636 0.2013 0.1276 0.1941 0.1193 0.1445 0.1633 0.2456 0.15 0.18 0.13 0.17 0.23 rs12145360 COSM3997372;COSM3997371 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.28 0.155 T 0.004 0.161 B 0.02 0.179 B 0.003 0.358 N 0.050 0.377 P 0.765 0.194 N 3.65 0.043 T -2.19 0.493 N 0.083 0.100 -0.912 0.467 T 0.000 0.000 T . . . 2.448 0.355 19.13 0.973 0.330 0.963 0.685 D c -0.195 -0.010 0.970 0.291 0.497 0.185 0 4.69 0.584 4.828 0.622 0.187 0.248 1.000 0.715 0.909 0.387 9.561 0.383 Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000203589.2 Esophagus_Muscularis 0.1636 0.2001 0.1364 0.3020 0.1978 0.1145 0.1363 0.1709 0.2450 0.1478 0.1931 0.1695 0.2815 0.2163 0.1155 0.1190 0.1283 het 3059.13 250 1 24394811 . A G 3059.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.609;DP=250;DS;Dels=0.00;FS=1.025;HRun=1;HaplotypeScore=5.9263;MQ=58.75;MQ0=0;MQRankSum=1.667;QD=12.24;ReadPosRankSum=0.199;VQSLOD=5.1068;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:139,111:250:99:3089,0,3856 1 24406535 24406535 G A exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon20:c.C2557T:p.P853S 0.089 0.0091 0.24 0.002 0.19 0.082 0.1715 0.0385 0.2938 0.0003 0.1996 0.2030 0.1779 0.1143 0.15 0.041 0.2 0.043 0.11 rs35446243 COSM3746880;COSM3746881 1(liver);1(thyroid) . . . . . . . . . . . 0.131 0.266 T 0.004 0.176 B 0.012 0.149 B 0.094 0.202 N 1 0.090 P -0.93 0.013 N 0.66 0.524 T -0.24 0.108 N 0.015 0.009 -1.013 0.260 T 0.000 0.000 T . . . 0.020 0.096 2.782 0.845 0.148 0.103 0.157 N c -1.023 -0.934 0.000 0.053 0.497 0.185 0 1.21 0.201 0.043 0.137 0.135 0.219 0.018 0.193 0.134 0.200 1.576 0.024 Fibronectin type III|Immunoglobulin-like fold . . 0.1749 0.0361 0.2833 0.1152 0.0005 0.2026 0.2054 0.1823 0.1105 0.1563 0.0379 0.2494 0.1126 0.0006 0.1928 0.2254 0.2157 het 1706.45 118 1 24406535 . G A 1706.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.391;DP=118;Dels=0.00;FS=3.455;HRun=0;HaplotypeScore=8.0844;MQ=58.41;MQ0=0;MQRankSum=0.402;QD=14.46;ReadPosRankSum=-0.297;VQSLOD=4.2855;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,64:118:99:1736,0,1440 1 24409165 24409165 C T exonic MYOM3 synonymous SNV MYOM3:NM_152372:exon17:c.G2010A:p.E670E 0.18 0.19 0.14 0.19 0.13 0.25 0.1593 0.1781 0.1253 0.1917 0.1178 0.1404 0.1618 0.2491 0.14 0.15 0.13 0.18 0.17 rs4320728 COSM3997373;COSM3997374 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1564 0.1740 0.1307 0.2854 0.1893 0.1127 0.1304 0.1603 0.2429 0.1380 0.1714 0.1671 0.2567 0.2098 0.1147 0.1130 0.1253 het 1666.39 130 1 24409165 . C T 1666.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.070;DP=130;Dels=0.00;FS=5.438;HRun=1;HaplotypeScore=1.9849;MQ=59.34;MQ0=0;MQRankSum=2.058;QD=12.82;ReadPosRankSum=0.684;VQSLOD=5.2664;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,65:130:99:1696,0,1714 1 24416059 24416059 T C exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon14:c.A1583G:p.D528G 0.98 0.93 0.98 1. 1. 1. 0.9940 0.9306 0.9967 1 1 0.9997 1 0.9999 0.98 0.94 1. 0.94 0.87 rs4393101 COSM4143595;COSM4143594 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.997 0.229 P -3.43 0.000 N 0.83 0.478 T 6.45 0.000 N 0.083 0.163 -0.935 0.434 T 0.000 0.000 T . . . 0.753 0.166 9.170 0.715 0.093 0.038 0.090 N c -1.007 -0.652 1.000 0.747 0.554 0.283 0 5.29 0.743 4.714 0.614 0.016 0.142 1.000 0.715 0.262 0.230 14.151 0.648 Fibronectin type III|Immunoglobulin-like fold . . 0.9951 0.9303 0.9968 1 0.9999 1 0.9996 0.9970 0.9998 0.9790 0.9281 0.9893 1 1 1 0.9997 0.9929 hom 329.44 10 1 24416059 . T C 329.44 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;QD=32.94;VQSLOD=9.5604;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:362,30,0 1 24416133 24416133 C T exonic MYOM3 synonymous SNV MYOM3:NM_152372:exon14:c.G1509A:p.P503P 0.17 0.19 0.13 0.18 0.11 0.24 0.2006 0.2120 0.2024 0.2460 0.2080 0.1692 0.2037 0.2656 0.12 0.15 0.11 0.15 0.11 rs4276859 COSM3751057;COSM1340817 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1406 0.1670 0.1232 0.2264 0.1859 0.1037 0.1075 0.1497 0.2311 0.1254 0.1688 0.1487 0.2 0.1896 0.1065 0.0958 0.1102 het 137.87 14 1 24416133 . C T 137.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.406;DP=14;Dels=0.00;FS=2.522;HRun=0;HaplotypeScore=1.6643;MQ=56.62;MQ0=0;MQRankSum=-0.910;QD=9.85;ReadPosRankSum=0.068;VQSLOD=3.6270;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:168,0,161 1 24417415 24417415 T C exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon12:c.A1304G:p.Q435R 0.17 0.24 0.13 0.003 0.18 0.27 0.1634 0.2135 0.0822 0.0035 0.1503 0.1668 0.1704 0.2655 0.17 0.2 0.16 0.18 0.19 rs6700245 COSM3751059;COSM3751058 1(large_intestine) . . . . . . . . . . . 0.371 0.115 T 0.003 0.102 B 0.021 0.181 B 0.074 0.213 N 0.994 0.235 P 0.105 0.085 N 0.44 0.566 T -0.7 0.199 N 0.029 0.022 -1.052 0.137 T 0.000 0.000 T . . . 1.257 0.216 12.05 0.980 0.372 0.681 0.334 D c -0.419 -0.219 0.986 0.309 0.403 0.052 0 3.03 0.339 1.813 0.384 1.061 0.807 1.000 0.715 0.998 0.697 3.636 0.076 Fibronectin type III|Immunoglobulin-like fold . . 0.1632 0.2163 0.0904 0.3254 0.0039 0.1571 0.1602 0.1681 0.2682 0.1632 0.2116 0.1026 0.3113 0.0043 0.1588 0.1536 0.1626 het 1281.60 124 1 24417415 . T C 1281.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.169;DP=124;Dels=0.00;FS=5.856;HRun=0;HaplotypeScore=6.2808;MQ=59.14;MQ0=0;MQRankSum=-0.837;QD=10.34;ReadPosRankSum=-0.145;VQSLOD=4.4049;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,57:124:99:1312,0,1847 1 24447468 24447468 G C exonic IL22RA1 nonsynonymous SNV IL22RA1:NM_021258:exon7:c.C1552G:p.R518G 0.47 0.29 0.4 0.73 0.4 0.55 0.4174 0.3088 0.4231 0.6988 0.3186 0.3816 0.3918 0.5202 0.37 0.3 0.41 0.45 0.27 rs3795299 COSM3751064 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.257 0.167 T 0.178 0.273 B 0.039 0.223 B 0.248 0.036 N 1 0.090 P 0.69 0.170 N 3.11 0.082 T -0.28 0.116 N 0.094 0.094 -0.974 0.363 T 0.000 0.000 T . . . 2.946 0.415 22.0 0.976 0.342 0.609 0.311 D c -0.563 -0.468 1.000 0.747 0.554 0.283 0 4.24 0.493 1.882 0.390 -0.304 0.080 0.976 0.346 0.001 0.043 11.300 0.483 . ENSG00000142677.3|ENSG00000142677.3|ENSG00000142661.14|ENSG00000142677.3|ENSG00000142661.14 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.4179 0.3116 0.4116 0.3833 0.7016 0.3124 0.3895 0.3937 0.5134 0.3716 0.3146 0.3840 0.3874 0.7064 0.3164 0.3801 0.3758 het 848.07 73 1 24447468 . G C 848.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.250;DP=73;Dels=0.00;FS=2.003;HRun=1;HaplotypeScore=1.9989;MQ=59.49;MQ0=0;MQRankSum=0.398;QD=11.62;ReadPosRankSum=1.239;VQSLOD=6.3268;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,30:73:99:878,0,1115 1 24447943 24447943 G A exonic IL22RA1 synonymous SNV IL22RA1:NM_021258:exon7:c.C1077T:p.V359V 0.12 0.22 0.062 0.003 0.097 0.16 0.0983 0.1934 0.0443 0.0033 0.0565 0.0996 0.0970 0.1687 0.13 0.19 0.098 0.11 0.13 rs34967816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0946 0.1944 0.0472 0.1491 0.0031 0.0583 0.0982 0.0918 0.1697 0.1132 0.1927 0.0644 0.1722 0.0025 0.0624 0.0936 0.0969 het 1649.27 119 1 24447943 . G A 1649.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.302;DP=119;Dels=0.00;FS=1.504;HRun=1;HaplotypeScore=3.5964;MQ=57.22;MQ0=0;MQRankSum=0.609;QD=13.86;ReadPosRankSum=0.619;VQSLOD=3.8684;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,60:119:99:1679,0,1467 1 24460797 24460797 T G exonic IL22RA1 synonymous SNV IL22RA1:NM_021258:exon4:c.A435C:p.P145P 0.52 0.7 0.46 0.3 0.61 0.47 0.5715 0.6933 0.3874 0.3207 0.6353 0.6206 0.5940 0.5289 0.63 0.69 0.6 0.55 0.7 rs17852649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5612 0.6955 0.4086 0.6564 0.3132 0.6330 0.6125 0.5843 0.5247 0.6248 0.7021 0.4567 0.6854 0.3122 0.6252 0.6229 0.6020 het 1219.14 91 1 24460797 . T G 1219.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.766;DP=91;Dels=0.00;FS=1.674;HRun=2;HaplotypeScore=1.8937;MQ=59.49;MQ0=0;MQRankSum=-0.472;QD=13.40;ReadPosRankSum=2.159;VQSLOD=6.0112;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,47:91:99:1249,0,1234 1 24465113 24465113 C T exonic IL22RA1 synonymous SNV IL22RA1:NM_021258:exon2:c.G135A:p.P45P 0.47 0.26 0.52 0.76 0.36 0.53 0.4218 0.2723 0.6095 0.7316 0.3558 0.3667 0.3894 0.4733 0.34 0.27 0.38 0.41 0.3 rs10903022 COSM3746889 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4294 0.2656 0.5862 0.3207 0.7358 0.3580 0.3723 0.4010 0.4674 0.3584 0.2588 0.5335 0.3079 0.7407 0.3668 0.3629 0.3806 het 1325.22 78 1 24465113 . C T 1325.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.901;DP=78;Dels=0.00;FS=0.895;HRun=0;HaplotypeScore=2.8612;MQ=59.52;MQ0=0;MQRankSum=0.568;QD=16.99;ReadPosRankSum=1.089;VQSLOD=6.0788;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,50:78:99:1355,0,609 1 24496085 24496085 G A exonic IFNLR1 synonymous SNV IFNLR1:NM_170743:exon3:c.C189T:p.P63P,IFNLR1:NM_173064:exon3:c.C189T:p.P63P,IFNLR1:NM_173065:exon3:c.C189T:p.P63P 0.12 0.29 0.043 0.033 0.042 0.097 0.0609 0.2588 0.0271 0.0370 0.0147 0.0355 0.0576 0.0974 0.11 0.24 0.037 0.14 0.049 rs34654982 COSM4415269 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0536 0.2610 0.0284 0.0513 0.0327 0.0130 0.0354 0.0466 0.0856 0.0961 0.2677 0.0370 0.0430 0.0197 0.0109 0.0320 0.0489 het 1356.40 116 1 24496085 . G A 1356.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DP=116;Dels=0.00;FS=1.590;HRun=0;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;MQRankSum=1.945;QD=11.69;ReadPosRankSum=0.866;VQSLOD=5.6683;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,54:116:99:1386,0,1704 1 24785393 24785393 C T exonic NIPAL3 synonymous SNV NIPAL3:NM_001322860:exon6:c.C306T:p.A102A,NIPAL3:NM_001322861:exon6:c.C306T:p.A102A,NIPAL3:NM_001322859:exon7:c.C306T:p.A102A,NIPAL3:NM_001322864:exon8:c.C786T:p.A262A,NIPAL3:NM_001322854:exon9:c.C789T:p.A263A,NIPAL3:NM_001322857:exon9:c.C789T:p.A263A,NIPAL3:NM_001322863:exon9:c.C543T:p.A181A,NIPAL3:NM_001322866:exon9:c.C762T:p.A254A,NIPAL3:NM_020448:exon9:c.C789T:p.A263A,NIPAL3:NM_001322855:exon10:c.C789T:p.A263A,NIPAL3:NM_001322856:exon10:c.C789T:p.A263A,NIPAL3:NM_001322858:exon10:c.C306T:p.A102A,NIPAL3:NM_001322862:exon10:c.C543T:p.A181A,NIPAL3:NM_001330409:exon10:c.C789T:p.A263A 0.31 0.16 0.44 0.45 0.28 0.29 0.2959 0.1677 0.4834 0.4564 0.2542 0.2692 0.2885 0.2867 0.23 0.16 0.26 0.29 0.17 rs2272935 COSM3746895;COSM3746894 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3037 0.1663 0.4611 0.3073 0.4624 0.2551 0.2639 0.3137 0.2879 0.2522 0.1705 0.4368 0.3046 0.4666 0.2506 0.2628 0.2926 het 1472.87 136 1 24785393 . C T 1472.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.210;DP=136;Dels=0.00;FS=1.397;HRun=1;HaplotypeScore=3.9084;MQ=59.40;MQ0=0;MQRankSum=-0.378;QD=10.83;ReadPosRankSum=-0.176;VQSLOD=6.1181;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,57:136:99:1503,0,2103 1 24859617 24859617 G A exonic RCAN3 synonymous SNV RCAN3:NM_001251980:exon3:c.G384A:p.P128P,RCAN3:NM_001251981:exon3:c.G240A:p.P80P,RCAN3:NM_001251983:exon3:c.G39A:p.P13P,RCAN3:NM_001251984:exon3:c.G39A:p.P13P,RCAN3:NM_001251977:exon4:c.G414A:p.P138P,RCAN3:NM_001251978:exon4:c.G414A:p.P138P,RCAN3:NM_001251979:exon4:c.G414A:p.P138P,RCAN3:NM_013441:exon4:c.G414A:p.P138P 0.38 0.25 0.33 0.68 0.32 0.37 0.3597 0.2613 0.3410 0.6500 0.328 0.3373 0.3455 0.3895 0.3 0.27 0.32 0.3 0.22 rs196429 COSM3746902 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3352 0.2548 0.2993 0.2722 0.6377 0.3106 0.3228 0.3200 0.3408 0.3236 0.2625 0.2983 0.2649 0.6475 0.3138 0.3286 0.3320 het 642.96 46 1 24859617 . G A 642.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.315;DP=46;Dels=0.00;FS=1.988;HRun=0;HaplotypeScore=2.7743;MQ=59.50;MQ0=0;MQRankSum=0.634;QD=13.98;ReadPosRankSum=0.603;VQSLOD=6.2995;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,25:46:99:673,0,357 1 24859665 24859665 G A exonic RCAN3 synonymous SNV RCAN3:NM_001251980:exon3:c.G432A:p.P144P,RCAN3:NM_001251981:exon3:c.G288A:p.P96P,RCAN3:NM_001251983:exon3:c.G87A:p.P29P,RCAN3:NM_001251984:exon3:c.G87A:p.P29P,RCAN3:NM_001251977:exon4:c.G462A:p.P154P,RCAN3:NM_001251978:exon4:c.G462A:p.P154P,RCAN3:NM_001251979:exon4:c.G462A:p.P154P,RCAN3:NM_013441:exon4:c.G462A:p.P154P 0.38 0.25 0.33 0.68 0.32 0.37 0.3552 0.2603 0.3417 0.6501 0.3245 0.3346 0.3456 0.3659 0.3 0.27 0.32 0.3 0.22 rs196430 COSM3746903 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3445 0.2576 0.3155 0.2855 0.6430 0.3146 0.3294 0.3314 0.3583 0.3238 0.2641 0.3005 0.2649 0.6461 0.3139 0.3282 0.3313 het 1052.65 76 1 24859665 . G A 1052.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.916;DP=76;Dels=0.00;FS=3.172;HRun=0;HaplotypeScore=4.9350;MQ=58.56;MQ0=0;MQRankSum=1.775;QD=13.85;ReadPosRankSum=0.578;VQSLOD=4.9995;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,38:76:99:1083,0,876 1 24861704 24861704 G A exonic RCAN3 nonsynonymous SNV RCAN3:NM_001251985:exon2:c.G317A:p.R106Q,RCAN3:NM_001251982:exon3:c.G491A:p.R164Q 0.51 0.47 0.4 0.73 0.46 0.47 0.4822 0.4614 0.3865 0.7088 0.5061 0.4726 0.4525 0.4742 0.46 0.46 0.46 0.45 0.3 rs196432 COSM1341222 1(large_intestine) . . . . . . . . . . . 1.0 0.021 T 0.014 0.156 B 0.005 0.104 B . . . 1.000 0.588 P . . . . . . 0.68 0.070 N . . -1.029 0.207 T 0.000 0.000 T . . . 0.365 0.129 6.307 0.872 0.165 0.036 0.087 N c -2.199 -2.346 1.0 0.983 0.652 0.477 0 -11.6 0.000 -3.514 0.005 -2.227 0.004 0.000 0.063 0.080 0.181 9.401 0.374 Nucleotide-binding alpha-beta plait domain ENSG00000001461.12 Thyroid 0.4716 0.4608 0.3745 0.3810 0.7079 0.4946 0.4706 0.4547 0.4691 0.4811 0.4594 0.3711 0.3933 0.7036 0.4851 0.4767 0.4807 het 763.80 50 1 24861704 . G A 763.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.808;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=-0.934;QD=15.28;ReadPosRankSum=-0.253;VQSLOD=6.3753;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,27:50:99:794,0,542 1 25291010 25291010 A T exonic RUNX3 nonsynonymous SNV RUNX3:NM_001031680:exon1:c.T53A:p.I18N,RUNX3:NM_001320672:exon2:c.T53A:p.I18N 0.58 0.39 0.72 0.69 0.52 0.68 0.5703 0.4606 0.7847 0.7180 0.5685 0.4982 0.6003 0.6853 0.46 0.42 0.48 0.48 0.42 rs6672420 COSM3751117 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.013 0.538 D 1.0 0.899 D 0.994 0.807 D 0.414 0.046 N 0.783 0.293 P . . . -4.2 0.969 D -2.02 0.465 N 0.11 0.118 -0.903 0.477 T 0.000 0.000 T . . . 3.109 0.433 22.5 0.970 0.312 0.944 0.607 D c 0.446 0.455 1.000 0.747 0.497 0.185 0 5.67 0.876 5.815 0.687 1.199 0.960 1.000 0.715 0.931 0.405 12.316 0.541 . . . 0.5599 0.4203 0.7517 0.5046 0.7106 0.5332 0.4753 0.5568 0.6737 0.4953 0.4242 0.7208 0.4934 0.7395 0.5298 0.4873 0.5318 het 533.54 32 1 25291010 . A T 533.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.061;DP=32;Dels=0.00;FS=6.205;HRun=1;HaplotypeScore=0.9983;MQ=58.83;MQ0=0;MQRankSum=-0.305;QD=16.67;ReadPosRankSum=0.996;VQSLOD=4.0617;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,22:32:99:564,0,247 1 25570081 25570081 T C exonic RSRP1 nonsynonymous SNV RSRP1:NM_001321772:exon4:c.A716G:p.E239G,RSRP1:NM_020317:exon4:c.A716G:p.E239G 0.11 0.013 0.21 0.033 0.27 0.073 0.1996 0.0465 0.1331 0.0240 0.2628 0.2731 0.2274 0.1111 0.2 0.054 0.27 0.054 0.23 rs1043879 COSM5001454 1(pancreas) . . . . . . . . . . . 0.007 0.599 D 0.087 0.234 B 0.063 0.256 B 0.290 0.148 N 0.921 0.273 P 1.15 0.294 L 1.36 0.344 T -3.87 0.726 D 0.067 0.243 -1.036 0.185 T 0.000 0.000 T . . . 2.968 0.417 22.1 0.993 0.588 0.774 0.377 D c -0.407 -0.378 1.000 0.747 0.719 0.830 0 3.97 0.451 1.992 0.401 1.011 0.635 1.000 0.715 0.483 0.268 8.521 0.323 . ENSG00000187010.14|ENSG00000187010.14|ENSG00000188672.12|ENSG00000187010.14|ENSG00000224183.1|ENSG00000183726.6|ENSG00000187010.14|ENSG00000188672.12|ENSG00000187010.14|ENSG00000188672.12|ENSG00000188672.12|ENSG00000188672.12|ENSG00000224183.1|ENSG00000187010.14|ENSG00000188672.12|ENSG00000183726.6|ENSG00000187010.14|ENSG00000188672.12|ENSG00000187010.14|ENSG00000188672.12|ENSG00000224183.1|ENSG00000187010.14|ENSG00000204178.5|ENSG00000188672.12|ENSG00000187010.14|ENSG00000259984.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2030 0.0436 0.1487 0.3812 0.0218 0.2616 0.2655 0.2355 0.1110 0.1827 0.0485 0.1814 0.44 0.0216 0.2692 0.2505 0.2214 het 1509.97 120 1 25570081 . T C 1509.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.755;DP=120;Dels=0.00;FS=1.494;HRun=1;HaplotypeScore=0.9995;MQ=59.27;MQ0=0;MQRankSum=1.059;QD=12.58;ReadPosRankSum=-0.658;VQSLOD=6.7439;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,65:120:99:1540,0,1243 1 25572984 25572984 T G exonic RSRP1 nonsynonymous SNV RSRP1:NM_001321772:exon2:c.A471C:p.R157S,RSRP1:NM_020317:exon2:c.A471C:p.R157S 0.015 . 0.0072 . 0.043 0.03 0.0344 0.0071 0.0130 0.0002 0.0668 0.0410 0.0343 0.0449 0.028 0.0061 0.04 . 0.057 rs34484514 . . . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.994 0.807 D 0.001 0.432 D 1.000 0.090 N 1.935 0.520 L 0.06 0.672 T -5.45 0.854 D 0.278 0.341 -0.583 0.655 T 0.132 0.444 T . . . 4.441 0.595 24.2 0.985 0.422 0.093 0.149 N c -0.406 -0.703 1.000 0.747 0.628 0.401 0 -4.75 0.030 -1.872 0.017 0.141 0.225 0.001 0.137 0.330 0.242 13.205 0.590 . ENSG00000261349.1|ENSG00000261349.1|ENSG00000261349.1 Artery_Tibial|Esophagus_Mucosa|Thyroid 0.0343 0.0067 0.0141 0.0245 0.0002 0.0610 0.0422 0.0325 0.0444 0.0345 0.0066 0.0191 0.0099 0 0.0578 0.0505 0.0337 het 2503.17 232 1 25572984 . T G 2503.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.768;DP=232;DS;Dels=0.00;FS=2.291;HRun=0;HaplotypeScore=3.8192;MQ=59.44;MQ0=0;MQRankSum=1.338;QD=10.79;ReadPosRankSum=-0.348;VQSLOD=5.6684;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:135,97:232:99:2533,0,3534 1 25889632 25889632 T C exonic LDLRAP1 nonsynonymous SNV LDLRAP1:NM_015627:exon6:c.T604C:p.S202P 0.43 0.32 0.51 0.44 0.52 0.44 0.5011 0.3527 0.5547 0.4507 0.5026 0.5376 0.5223 0.4334 0.47 0.34 0.53 0.33 0.52 rs6687605 COSM4440827 2(large_intestine) Benign|Benign Familial_hypercholesterolemia|not_specified RCV000386734.1|RCV000427792.1 MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen C0020445:143890:397915002:398036000|CN169374 . . . . . . 0.14 0.256 T 0.079 0.230 B 0.048 0.236 B 0.252 0.155 N 1 0.090 P 1.755 0.458 L 0.36 0.579 T -0.76 0.212 N 0.023 0.006 -0.928 0.445 T 0.000 0.000 T . . . -1.042 0.030 0.013 0.596 0.061 0.021 0.061 N c -1.872 -1.900 1.000 0.517 0.646 0.450 0 -2.44 0.061 -0.666 0.053 -2.495 0.003 0.000 0.063 0.000 0.016 2.213 0.037 . ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hippocampus|Breast_Mammary_Tissue|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Ovary|Pancreas|Spleen|Thyroid|Whole_Blood 0.5055 0.3506 0.5521 0.5818 0.4496 0.5021 0.5346 0.5290 0.4316 0.4730 0.3534 0.5421 0.5960 0.4418 0.4860 0.5351 0.4969 hom 1409.68 45 1 25889632 . T C 1409.68 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=1.8646;MQ=59.03;MQ0=0;QD=31.33;VQSLOD=9.5429;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1443,114,0 1 25890189 25890189 A G exonic LDLRAP1 synonymous SNV LDLRAP1:NM_015627:exon7:c.A654G:p.T218T 0.59 0.83 0.6 0.44 0.53 0.45 0.5515 0.7906 0.5881 0.4524 0.5021 0.5497 0.5682 0.4533 0.63 0.78 0.56 0.55 0.59 rs28969504 COSM3751120 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Familial_hypercholesterolemia|not_specified RCV000329172.1|RCV000435861.1 MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen C0020445:143890:397915002:398036000|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5492 0.7968 0.5897 0.6212 0.4510 0.5040 0.5471 0.5655 0.4513 0.6038 0.7868 0.5967 0.6258 0.4431 0.4880 0.5469 0.5244 hom 1936.26 68 1 25890189 . A G 1936.26 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=28.47;VQSLOD=8.5979;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:68:99:1969,162,0 1 26131654 26131654 G A exonic SELENON unknown UNKNOWN 0.84 0.75 0.89 0.94 0.78 0.9 0.8144 0.7804 0.9150 0.9416 0.7282 0.7777 0.8158 0.8805 . . . 0.76 0.7 rs7349185 COSM4594405 1(upper_aerodigestive_tract) Benign|Benign not_specified|SEPN1-Related_Disorders RCV000082016.9|RCV000371932.1 MedGen|MedGen CN169374|CN239420 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.076 0.212 N 1 0.090 P 1.1 0.281 L 0.68 0.520 T 2.8 0.002 N 0.07 0.236 -0.907 0.472 T 0.000 0.000 T . . . -0.989 0.032 0.017 0.318 0.018 0.008 0.031 N c -1.121 -1.048 1.000 0.517 0.696 0.567 0 1.58 0.224 0.869 0.275 0.241 0.266 0.358 0.256 0.906 0.385 0.970 0.013 . ENSG00000272478.1|ENSG00000117640.13|ENSG00000117640.13|ENSG00000272478.1|ENSG00000117640.13|ENSG00000162430.12|ENSG00000228172.1|ENSG00000162430.12 Artery_Tibial|Artery_Tibial|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Thyroid 0.8181 0.7786 0.9056 0.7882 0.9425 0.7230 0.7833 0.8128 0.8774 0.7820 0.7789 0.9007 0.7781 0.9363 0.7357 0.7726 0.7643 hom 3932.86 128 1 26131654 . G A 3932.86 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.705;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3714;MQ=58.46;MQ0=0;MQRankSum=1.596;QD=30.73;ReadPosRankSum=0.832;VQSLOD=5.6727;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,127:128:99:3932,340,0 1 26136282 26136282 C T exonic SELENON unknown UNKNOWN 0.01 0.0008 0.019 . 0.031 0.0061 0.0251 0.0085 0.0195 0 0.0144 0.0379 0.0167 0.0052 0.031 0.0095 0.042 0.011 0.066 rs147587542 COSM5653779 1(haematopoietic_and_lymphoid_tissue) other|Likely benign not_specified|SEPN1-Related_Disorders RCV000082021.9|RCV000406527.1 MedGen|MedGen CN169374|CN239420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0256 0.0075 0.0196 0.0227 0 0.0181 0.0411 0.0261 0.0054 0.0298 0.0086 0.0167 0.0265 0 0.0226 0.0476 0.0336 het 2406.70 188 1 26136282 . C T 2406.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.604;DP=188;Dels=0.00;FS=8.496;HRun=0;HaplotypeScore=6.5302;MQ=59.75;MQ0=0;MQRankSum=0.504;QD=12.80;ReadPosRankSum=0.323;VQSLOD=2.8976;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,91:188:99:2437,0,2277 1 26138262 26138262 T C exonic SELENON unknown UNKNOWN 0.79 0.56 0.85 0.97 0.78 0.9 0.8132 0.6368 0.9016 0.9641 0.7717 0.7917 0.8045 0.8825 0.74 0.63 0.79 0.74 0.45 rs760597 COSM1127046 1(oesophagus);1(prostate) Benign|Benign not_specified|SEPN1-Related_Disorders RCV000082009.8|RCV000358370.1 MedGen|MedGen CN169374|CN239420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8096 0.6070 0.8895 0.7706 0.9651 0.7417 0.7843 0.8128 0.8773 0.7396 0.6114 0.8819 0.7450 0.9667 0.7547 0.7761 0.7664 hom 517.83 18 1 26138262 . T C 517.83 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;QD=28.77;VQSLOD=8.3958;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:42.13:551,42,0 1 26140573 26140573 C A exonic SELENON unknown UNKNOWN 0.7 0.21 0.83 0.97 0.78 0.9 0.7747 0.2938 0.8902 0.9643 0.7486 0.7769 0.7964 0.8804 0.63 0.32 0.79 0.55 0.72 rs2294228 COSM4143697 1(thyroid) Benign|Benign not_specified|SEPN1-Related_Disorders RCV000082012.8|RCV000299948.1 MedGen|MedGen CN169374|CN239420 . . . . . . 0.053 0.491 T 0.0 0.026 B 0.001 0.040 B 0.054 0.228 N 0.999 0.361 P 1.525 0.387 L -2.36 0.882 D -1.8 0.526 N 0.012 0.071 -0.998 0.306 T 0.000 0.000 T . . . 2.958 0.416 22.1 0.978 0.356 0.368 0.254 N c -0.749 -0.748 0.983 0.304 0.672 0.522 0 2.58 0.299 0.140 0.158 0.023 0.146 0.718 0.286 0.032 0.149 7.686 0.275 . ENSG00000117640.13|ENSG00000272478.1|ENSG00000117640.13|ENSG00000272478.1|ENSG00000117640.13|ENSG00000162430.12|ENSG00000117640.13|ENSG00000272478.1|ENSG00000117640.13|ENSG00000272478.1|ENSG00000162430.12|ENSG00000117640.13|ENSG00000228172.1|ENSG00000272478.1|ENSG00000117640.13 Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Thyroid|Thyroid 0.7861 0.2900 0.8782 0.7697 0.9655 0.7439 0.7829 0.7973 0.8771 0.6485 0.2947 0.8513 0.7450 0.9654 0.7549 0.7748 0.7526 hom 3451.44 111 1 26140573 . C A 3451.44 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.4833;MQ=58.45;MQ0=0;QD=31.09;VQSLOD=7.9826;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:111:99:3451,280,0 1 26357656 26357656 C A exonic EXTL1 nonsynonymous SNV EXTL1:NM_004455:exon5:c.C1135A:p.H379N 0.59 0.2 0.73 0.75 0.7 0.76 0.6742 0.2742 0.7677 0.7315 0.8157 0.6854 0.7192 0.7263 0.55 0.29 0.68 0.45 0.69 rs2736831 . . . . . . . . . . . . . 0.083 0.330 T 0.029 0.185 B 0.01 0.139 B 0.019 0.273 N 0.557 0.313 P 1.59 0.404 L -3.54 0.948 D -0.84 0.229 N 0.057 0.040 -0.903 0.477 T 0.000 0.000 T . . . 3.943 0.531 23.5 0.971 0.320 0.677 0.333 D c -0.449 -0.398 1.000 0.747 0.516 0.203 0 4.7 0.586 1.364 0.336 0.935 0.490 0.001 0.137 0.810 0.339 16.601 0.846 . ENSG00000158008.5|ENSG00000158008.5|ENSG00000158006.9|ENSG00000142675.13|ENSG00000158014.10|ENSG00000158022.6 Artery_Aorta|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6864 0.2688 0.7504 0.5917 0.7204 0.8187 0.6896 0.6960 0.7266 0.6026 0.2823 0.7237 0.5828 0.7333 0.8200 0.7103 0.7188 het 1553.27 136 1 26357656 . C A 1553.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.629;DP=136;Dels=0.00;FS=0.647;HRun=1;HaplotypeScore=3.6155;MQ=59.42;MQ0=0;MQRankSum=0.350;QD=11.42;ReadPosRankSum=-0.390;VQSLOD=6.4296;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,64:136:99:1583,0,1867 1 26392824 26392824 C A exonic TRIM63 synonymous SNV TRIM63:NM_032588:exon2:c.G267T:p.V89V 0.018 0.003 0.029 . 0.065 0.0031 0.0529 0.0135 0.0286 0 0.0604 0.0801 0.0509 0.0102 0.061 0.016 0.084 0.022 0.11 rs35123100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0545 0.0126 0.0300 0.0541 0 0.0655 0.0864 0.0498 0.0105 0.0659 0.0140 0.0322 0.0596 0 0.0698 0.1033 0.0825 het 1396.98 103 1 26392824 . C A 1396.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.974;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7320;MQ=59.33;MQ0=0;MQRankSum=0.274;QD=13.56;ReadPosRankSum=0.182;VQSLOD=6.3759;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,54:103:99:1427,0,1337 1 26487940 26487940 A G exonic FAM110D nonsynonymous SNV FAM110D:NM_024869:exon2:c.A158G:p.H53R 0.19 0.04 0.23 0.27 0.33 0.13 0.3310 0.1086 0.3640 0.3656 0.4848 0.4094 0.3195 0.1898 0.22 0.069 0.3 0.14 0.066 rs3748856 COSM3749044 3(large_intestine) . . . . . . . . . . . 0.531 0.070 T 0.677 0.394 P 0.326 0.402 B 0.070 0.216 U 0.894 0.278 P 1.32 0.331 L 1.08 0.394 T -1.48 0.362 N 0.096 0.097 -0.947 0.416 T 0.000 0.000 T . . . 1.147 0.205 11.47 0.706 0.091 0.229 0.217 N c -0.364 -0.329 1.000 0.747 0.658 0.486 0 4.42 0.526 0.582 0.234 1.005 0.623 0.041 0.208 0.790 0.333 13.078 0.583 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000236782.1|ENSG00000175087.5|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2722 0.0688 0.2351 0.2480 0.2787 0.3688 0.3276 0.2863 0.1680 0.2486 0.0707 0.2266 0.2517 0.2824 0.3548 0.3224 0.2863 het 45.74 10 1 26487940 . A G 45.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=0.248;QD=4.57;ReadPosRankSum=1.422;VQSLOD=4.3872;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,4:10:75.74:76,0,148 1 26520292 26520292 G T exonic CATSPER4 nonsynonymous SNV CATSPER4:NM_198137:exon3:c.G372T:p.L124F 0.023 0.0023 0.036 . 0.084 0.0051 0.0539 0.0135 0.0274 0 0.0803 0.0799 0.0552 0.0104 0.064 0.015 0.089 0.022 0.098 rs12138368 . . . . . . . . . . . . . 0.189 0.212 T 0.005 0.119 B 0.007 0.121 B 0.023 0.265 N 0.992 0.239 N 1.935 0.520 L -4.45 0.975 D -0.89 0.240 N 0.125 0.261 -0.465 0.699 T 0.103 0.381 T . . . 1.160 0.206 11.54 0.950 0.254 0.834 0.422 D c -0.931 -0.806 0.000 0.029 0.581 0.326 0 -1.38 0.085 0.056 0.140 -0.743 0.035 0.996 0.391 0.975 0.474 4.688 0.121 Ion transport domain ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000176092.9|ENSG00000142684.7|ENSG00000236782.1|ENSG00000176092.9|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.0561 0.0130 0.0298 0.0533 0 0.0840 0.0858 0.0501 0.0112 0.0671 0.0143 0.0335 0.0596 0 0.0859 0.1014 0.0878 het 2261.09 157 1 26520292 . G T 2261.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.185;DP=157;Dels=0.00;FS=2.063;HRun=2;HaplotypeScore=1.8519;MQ=59.47;MQ0=0;MQRankSum=-1.166;QD=14.40;ReadPosRankSum=-0.641;VQSLOD=6.2685;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,90:157:99:2291,0,1882 1 26527884 26527884 G A exonic CATSPER4 synonymous SNV CATSPER4:NM_198137:exon9:c.G1239A:p.E413E 0.023 0.0023 0.036 . 0.081 0.0051 0.0534 0.0129 0.0273 0 0.0813 0.0790 0.0543 0.0106 0.063 0.015 0.088 0.011 0.057 rs41310785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0556 0.0124 0.0297 0.0532 0 0.0862 0.0845 0.0492 0.0112 0.0664 0.0140 0.0346 0.0596 0 0.0875 0.0998 0.0881 het 2261.82 153 1 26527884 . G A 2261.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.693;DP=153;Dels=0.00;FS=2.389;HRun=1;HaplotypeScore=0.9992;MQ=59.51;MQ0=0;MQRankSum=-2.622;QD=14.78;ReadPosRankSum=-0.266;VQSLOD=4.6266;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,82:153:99:2292,0,1956 1 26527951 26527951 G A exonic CATSPER4 nonsynonymous SNV CATSPER4:NM_198137:exon9:c.G1306A:p.D436N 0.21 0.37 0.17 0.022 0.27 0.16 0.2235 0.3474 0.1109 0.0178 0.2753 0.2563 0.2203 0.1795 0.29 0.34 0.26 0.29 0.28 rs6657616 COSM4143709 1(thyroid) . . . . . . . . . . . 0.084 0.329 T 0.779 0.423 P 0.251 0.373 B 0.029 0.255 N 1 0.090 P 1.905 0.510 L -4.39 0.974 D -0.9 0.242 N 0.011 0.072 -1.190 0.002 T 0.000 0.000 T . . . 1.510 0.244 13.37 0.996 0.735 0.083 0.141 N c -0.335 -0.415 1.0 0.983 0.534 0.214 0 3.1 0.346 1.710 0.373 0.998 0.613 0.052 0.213 0.003 0.074 5.74 0.172 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000188782.3|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000169442.4|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood 0.2195 0.3520 0.1166 0.2277 0.0184 0.2842 0.2608 0.2196 0.1796 0.2806 0.3563 0.1504 0.2185 0.0198 0.2872 0.2731 0.2608 het 3930.54 250 1 26527951 . G A 3930.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.070;DP=250;DS;Dels=0.00;FS=0.470;HRun=1;HaplotypeScore=6.3014;MQ=59.00;MQ0=0;MQRankSum=0.496;QD=15.72;ReadPosRankSum=0.287;VQSLOD=4.1927;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:113,137:250:99:3345,0,2837 1 26582091 26582091 G A exonic CEP85 nonsynonymous SNV CEP85:NM_001281517:exon3:c.G485A:p.S162N,CEP85:NM_001319944:exon4:c.G638A:p.S213N,CEP85:NM_022778:exon4:c.G638A:p.S213N 0.19 0.058 0.24 0.26 0.3 0.13 0.2533 0.0867 0.2539 0.2477 0.2994 0.3003 0.2720 0.1515 0.24 0.095 0.31 0.21 0.25 rs3795686 COSM3997449 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.646 0.049 T 0.0 0.026 B 0.001 0.040 B 0.000 0.460 D 0.995 0.233 P -0.205 0.041 N 2.78 0.113 T -0.42 0.144 N 0.002 0.000 -0.933 0.437 T 0.000 0.000 T . . . -1.101 0.028 0.010 0.679 0.082 0.032 0.081 N c -1.174 -1.058 0.235 0.185 0.707 0.730 0 4.24 0.493 1.935 0.396 0.201 0.252 0.732 0.287 0.281 0.234 9.919 0.404 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000158062.16|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid 0.2596 0.0809 0.2547 0.2700 0.2520 0.3014 0.3052 0.2943 0.1530 0.2318 0.0879 0.2428 0.2881 0.2369 0.2956 0.2959 0.2688 het 2183.70 222 1 26582091 . G A 2183.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.662;DP=222;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.53;MQ0=0;MQRankSum=1.390;QD=9.84;ReadPosRankSum=0.746;VQSLOD=6.6861;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:130,92:222:99:2214,0,3520 1 26609259 26609259 C T exonic UBXN11 synonymous SNV UBXN11:NM_001077262:exon10:c.G813A:p.T271T,UBXN11:NM_145345:exon14:c.G1074A:p.T358T,UBXN11:NM_183008:exon15:c.G1173A:p.T391T 0.38 0.32 0.39 0.31 0.63 0.29 0.5273 0.3816 0.3836 0.29 0.5957 0.6443 0.5478 0.3371 0.58 0.42 0.66 0.43 0.62 rs7522905 COSM4143717 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5252 0.3741 0.3977 0.6179 0.2920 0.5966 0.6482 0.5698 0.3352 0.5362 0.3862 0.4330 0.6026 0.2797 0.5967 0.6387 0.5786 hom 3999.62 130 1 26609259 . C T 3999.62 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7741;MQ=59.39;MQ0=0;QD=30.77;VQSLOD=7.7153;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:3999,316,0 1 26610891 26610891 A C exonic UBXN11 nonsynonymous SNV UBXN11:NM_001077262:exon7:c.T575G:p.L192R,UBXN11:NM_145345:exon11:c.T836G:p.L279R,UBXN11:NM_183008:exon12:c.T935G:p.L312R 0.73 0.88 0.69 0.46 0.93 0.61 0.8276 0.8816 0.6272 0.4478 0.9031 0.9342 0.8618 0.6702 0.92 0.88 0.94 0.81 0.83 rs4332350 COSM3997450 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.555 0.068 T 0.0 0.026 B 0.0 0.013 B 0.372 0.044 N 1 0.090 P -2.2 0.001 N 2.35 0.162 T 1.45 0.009 N 0.055 0.326 -1.021 0.235 T 0.000 0.000 T . . . -0.960 0.033 0.019 0.644 0.073 0.003 0.018 N c -1.632 -1.597 1.000 0.747 0.722 0.854 0 -2.06 0.069 -0.358 0.076 -0.459 0.055 0.000 0.063 0.301 0.237 3.125 0.060 SEP domain ENSG00000130695.9|ENSG00000130695.9 Heart_Atrial_Appendage|Heart_Left_Ventricle 0.8220 0.8828 0.6537 0.9412 0.4420 0.9095 0.9348 0.8641 0.6710 0.8825 0.8874 0.6950 0.9139 0.4488 0.9082 0.9313 0.8684 hom 2102.03 72 1 26610891 . A C 2102.03 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=29.19;VQSLOD=8.5990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2135,177,0 1 26646726 26646726 A G exonic CD52 nonsynonymous SNV CD52:NM_001803:exon2:c.A119G:p.N40S 0.58 0.63 0.58 0.44 0.74 0.5 0.6711 0.6561 0.5513 0.4292 0.6992 0.7541 0.7004 0.5422 0.73 0.67 0.77 0.65 0.72 rs1071849 COSM1180632 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.009 0.139 B 0.007 0.121 B 0.493 0.120 N 1 0.090 P . . . 1.72 0.266 T -1.44 0.354 N 0.02 0.004 -1.013 0.260 T 0.000 0.000 T . . . 0.422 0.135 6.804 0.853 0.153 0.010 0.038 N c -1.074 -1.161 1.000 0.467 0.628 0.401 0 -1.87 0.073 0.160 0.162 -0.126 0.112 0.000 0.063 0.000 0.016 4.278 0.102 . ENSG00000169442.4|ENSG00000169442.4|ENSG00000169442.4|ENSG00000169442.4|ENSG00000158062.16|ENSG00000169442.4 Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Testis|Whole_Blood 0.6692 0.6558 0.5715 0.7643 0.4228 0.7058 0.7561 0.7109 0.5397 0.6982 0.6600 0.5947 0.7517 0.4265 0.7104 0.7523 0.6895 hom 3528.38 110 1 26646726 . A G 3528.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.644;DP=110;Dels=0.00;FS=3.100;HRun=0;HaplotypeScore=1.9963;MQ=59.60;MQ0=0;MQRankSum=-0.548;QD=32.08;ReadPosRankSum=-0.839;VQSLOD=4.5735;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,108:110:99:3457,202,0 1 26646730 26646730 A G exonic CD52 nonsynonymous SNV CD52:NM_001803:exon2:c.A123G:p.I41M 0.58 0.63 0.58 0.44 0.74 0.5 0.6711 0.6562 0.5514 0.4293 0.6992 0.7541 0.7004 0.5423 0.73 0.67 0.77 0.65 0.72 rs17645 COSM1180633 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.294 0.148 T 0.0 0.026 B 0.001 0.040 B 0.258 0.037 N 1 0.090 P . . . 1.53 0.304 T -0.68 0.195 N 0.062 0.047 -0.972 0.367 T 0.000 0.000 T . . . -0.605 0.050 0.122 0.315 0.018 0.002 0.010 N c -1.118 -1.127 1.000 0.517 0.628 0.401 0 3.42 0.381 0.094 0.148 -0.760 0.034 0.000 0.063 0.000 0.016 7.166 0.247 . ENSG00000169442.4|ENSG00000169442.4|ENSG00000169442.4|ENSG00000169442.4|ENSG00000158062.16|ENSG00000169442.4 Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Testis|Whole_Blood 0.6692 0.6559 0.5714 0.7645 0.4225 0.7058 0.7560 0.7104 0.5395 0.6981 0.6601 0.5962 0.7517 0.4265 0.7104 0.7518 0.6895 hom 3811.80 118 1 26646730 . A G 3811.80 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.998;DP=118;Dels=0.00;FS=5.367;HRun=0;HaplotypeScore=2.8284;MQ=59.24;MQ0=0;MQRankSum=0.969;QD=32.30;ReadPosRankSum=-1.116;VQSLOD=4.2992;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,117:118:99:3775,259,0 1 26673076 26673076 G A exonic CRYBG2 nonsynonymous SNV CRYBG2:NM_001039775:exon2:c.C73T:p.R25W 0.18 0.15 0.19 0.15 0.19 0.23 0.2614 0.2089 0.2770 0.2421 0.2873 0.2633 0.26 0.2721 0.18 0.14 0.19 0.2 . rs11247924 . . . . . . . . . . . . . 0.038 0.427 D 1.0 0.899 D 0.994 0.807 D . . . 0.987 0.245 P . . . 1.97 0.221 T -6.06 0.898 D 0.272 0.330 -1.061 0.114 T 0.000 0.000 T . . . 2.971 0.417 22.1 0.999 0.987 0.150 0.185 N c 0.159 0.094 0.053 0.149 0.615 0.372 0 3.01 0.337 1.170 0.313 0.857 0.375 0.177 0.238 0.992 0.562 9.806 0.398 Gamma-crystallin-related ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000130695.9|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000130695.9|ENSG00000142684.7 Adipose_Subcutaneous|Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.1978 0.1527 0.1947 0.1921 0.1583 0.1995 0.1995 0.1855 0.2394 0.1900 0.1442 0.1802 0.2053 0.1745 0.2005 0.2164 0.1844 het 164.27 13 1 26673076 . G A 164.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.244;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.20;MQ0=0;MQRankSum=0.244;QD=12.64;ReadPosRankSum=1.134;VQSLOD=5.8604;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,7:13:99:194,0,119 1 26691174 26691174 C A exonic ZNF683 nonsynonymous SNV ZNF683:NM_001114759:exon4:c.G863T:p.R288L,ZNF683:NM_001307925:exon4:c.G863T:p.R288L,ZNF683:NM_173574:exon4:c.G863T:p.R288L 0.26 0.12 0.42 0.28 0.34 0.25 0.3251 0.1631 0.4042 0.2583 0.3815 0.3561 0.3377 0.2577 0.29 0.16 0.36 0.23 . rs11247933 COSM5425316;COSM5425315 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.271 0.160 T 0.006 0.126 B 0.017 0.170 B 0.061 0.021 N 1 0.090 P 0.345 0.112 N 3.01 0.096 T -1.58 0.381 N 0.086 0.081 -0.933 0.438 T 0.000 0.000 T . . . -0.206 0.076 1.067 0.724 0.097 0.027 0.073 N c -1.911 -2.018 1.000 0.448 0.598 0.340 0 -7.04 0.014 -1.690 0.020 -0.302 0.080 0.000 0.063 0.000 0.016 3.865 0.085 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000225854.2|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis|Testis|Thyroid|Thyroid 0.3310 0.1567 0.3943 0.2655 0.2587 0.3793 0.3623 0.3584 0.2568 0.2986 0.1648 0.3807 0.2980 0.2546 0.3615 0.3595 0.3340 het 2150.76 155 1 26691174 . C A 2150.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.664;DP=155;Dels=0.00;FS=13.805;HRun=1;HaplotypeScore=7.4784;MQ=58.50;MQ0=0;MQRankSum=1.870;QD=13.88;ReadPosRankSum=0.009;VQSLOD=2.7802;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,72:155:99:2181,0,2117 1 26691287 26691310 CCACCGAGCGCTGGGGTGCCCCAG - exonic ZNF683 nonframeshift deletion ZNF683:NM_001114759:exon4:c.727_750del:p.L243_W250del,ZNF683:NM_001307925:exon4:c.727_750del:p.L243_W250del,ZNF683:NM_173574:exon4:c.727_750del:p.L243_W250del . . . . . . 0.1017 0.3078 0.0476 0.0439 0.0809 0.0863 0.1012 0.1146 . . . . . rs372936882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0951 0.3106 0.0509 0.0605 0.0421 0.0861 0.0903 0.0831 0.0991 0.1567 0.3126 0.0585 0.0728 0.0557 0.0895 0.1035 0.1012 het 1193.20 45 1 26691286 . CCCACCGAGCGCTGGGGTGCCCCAG C 1193.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.295;DP=45;FS=12.290;HRun=0;HaplotypeScore=762.4881;MQ=53.27;MQ0=0;MQRankSum=-3.252;QD=26.52;ReadPosRankSum=1.409;set=variant2 GT:AD:DP:GQ:PL 0/1:37,8:45:99:1232,0,9038 1 26694245 26694245 T C exonic ZNF683 nonsynonymous SNV ZNF683:NM_001114759:exon3:c.A158G:p.H53R,ZNF683:NM_001307925:exon3:c.A158G:p.H53R,ZNF683:NM_173574:exon3:c.A158G:p.H53R 0.49 0.59 0.32 0.62 0.29 0.57 0.3934 0.5525 0.3699 0.6332 0.3430 0.3084 0.3760 0.5316 0.36 0.52 0.28 0.5 . rs10794531 COSM5463889;COSM5463890 2(large_intestine) . . . . . . . . . . . 0.234 0.180 T 0.004 0.156 B 0.003 0.093 B 0.023 0.265 N 1 0.090 P 0.895 0.225 L 3.26 0.211 T -1.93 0.773 N 0.162 0.207 -0.974 0.364 T 0.000 0.000 T . . . -1.131 0.027 0.009 0.790 0.121 0.011 0.039 N c -1.215 -1.228 0.611 0.218 0.516 0.203 0 -3.22 0.048 -1.209 0.031 -0.892 0.027 0.000 0.063 0.027 0.143 5.429 0.156 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000169442.4|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3599 0.5341 0.3281 0.2615 0.6261 0.3053 0.2848 0.3088 0.5067 0.3837 0.5282 0.3169 0.2616 0.6274 0.3110 0.2986 0.3532 het 168.83 15 1 26694245 . T C 168.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.150;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;MQRankSum=-0.652;QD=11.26;ReadPosRankSum=0.428;VQSLOD=6.4286;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:199,0,156 1 26786627 26786627 G A exonic DHDDS nonsynonymous SNV DHDDS:NM_001243564:exon7:c.G655A:p.V219M,DHDDS:NM_001243565:exon7:c.G640A:p.V214M,DHDDS:NM_001319959:exon8:c.G478A:p.V160M,DHDDS:NM_024887:exon8:c.G757A:p.V253M,DHDDS:NM_205861:exon8:c.G757A:p.V253M 0.46 0.48 0.31 0.71 0.23 0.49 0.3133 0.4537 0.2753 0.7230 0.2493 0.2254 0.3128 0.4181 0.29 0.44 0.21 0.48 0.2 rs3816539 COSM146454 1(stomach);1(thyroid);1(meninges) Benign Retinitis_Pigmentosa\x2c_Recessive RCV000373487.1 MedGen CN239466 . . . . . . 0.116 0.284 T 0.001 0.090 B 0.006 0.112 B 0.143 0.182 N 1 0.090 P 0.55 0.145 N 0.93 0.441 T 0.25 0.048 N 0.028 0.298 -0.970 0.372 T 0.000 0.000 T . . . 1.997 0.301 16.19 0.950 0.253 0.506 0.285 D c -0.564 -0.504 0.086 0.160 0.707 0.730 0 -1.42 0.084 0.739 0.257 -0.720 0.036 0.908 0.314 0.041 0.157 12.092 0.529 Di-trans-poly-cis-decaprenylcistransferase-like\x2c conserved site ENSG00000117682.12|ENSG00000117676.9|ENSG00000117682.12|ENSG00000117682.12|ENSG00000117682.12 Cells_Transformed_fibroblasts|Liver|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3050 0.4527 0.2816 0.2106 0.7281 0.2421 0.2196 0.2712 0.4121 0.3034 0.4526 0.2482 0.2152 0.7121 0.2384 0.1951 0.2714 hom 3115.59 94 1 26786627 . G A 3115.59 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.14;VQSLOD=13.9609;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3149,253,0 1 26879920 26879920 T C exonic RPS6KA1 synonymous SNV RPS6KA1:NM_001006665:exon6:c.T534C:p.A178A,RPS6KA1:NM_001330441:exon6:c.T459C:p.A153A,RPS6KA1:NM_002953:exon7:c.T507C:p.A169A 0.99 0.97 1. 1. 1. 1. 0.9978 0.9755 0.9995 1 0.9995 1.0000 0.9989 0.9999 0.99 0.98 1. 1. 0.97 rs4970490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9984 0.9764 0.9996 1 1 0.9993 0.9999 1 0.9999 0.9931 0.9759 1 1 1 0.9991 0.9999 1 hom 5711.34 202 1 26879920 . T C 5711.34 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.663;DP=202;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.6333;MQ=58.78;MQ0=0;MQRankSum=1.316;QD=28.27;ReadPosRankSum=1.628;VQSLOD=4.6618;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,201:202:99:5710,448,0 1 26887592 26887592 T C exonic RPS6KA1 synonymous SNV RPS6KA1:NM_001006665:exon15:c.T1425C:p.Y475Y,RPS6KA1:NM_001330441:exon15:c.T1350C:p.Y450Y,RPS6KA1:NM_002953:exon16:c.T1398C:p.Y466Y 0.51 0.51 0.36 0.76 0.29 0.59 0.3793 0.4831 0.4282 0.7558 0.2954 0.2827 0.3722 0.5064 0.33 0.46 0.26 0.54 0.27 rs1064196 COSM4143734;COSM4143733 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3740 0.4926 0.4220 0.2939 0.7629 0.2879 0.2747 0.3358 0.4999 0.3557 0.4900 0.3768 0.2483 0.7488 0.2905 0.2534 0.3227 hom 3095.79 110 1 26887592 . T C 3095.79 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.66;MQ0=0;QD=28.14;VQSLOD=7.7406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3129,250,0 1 27210721 27210721 T C exonic GPN2 nonsynonymous SNV GPN2:NM_018066:exon4:c.A790G:p.R264G 0.87 0.98 0.83 1. 0.63 0.89 0.7320 0.9285 0.8590 0.9985 0.6239 0.6262 0.7241 0.8503 0.72 0.92 0.63 0.87 0.75 rs3170660 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.917 0.273 P -2.11 0.002 N 2.37 0.190 T 6.16 0.000 N 0.104 0.166 -0.920 0.456 T 0.000 0.000 T . . . 1.739 0.270 14.63 0.400 0.028 0.307 0.239 N c -0.598 -0.354 1.000 0.500 0.707 0.730 0 5.48 0.806 5.865 0.691 0.040 0.155 1.000 0.715 0.827 0.345 14.182 0.650 . . . 0.7310 0.9337 0.8410 0.6446 0.9984 0.6323 0.6248 0.7055 0.8485 0.7372 0.9318 0.8103 0.6291 0.9994 0.6097 0.6265 0.6865 het 1029.73 73 1 27210721 . T C 1029.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.323;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7740;MQ=58.47;MQ0=0;MQRankSum=-0.225;QD=14.11;ReadPosRankSum=1.182;VQSLOD=5.6933;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,40:73:99:1060,0,921 1 27332521 27332521 C T exonic FAM46B nonsynonymous SNV FAM46B:NM_052943:exon2:c.G1192A:p.V398I . . . . . . 1.726e-05 0 0 0 0 3.115e-05 0 0 0.0001 . 0.0001 . . rs199549779 . . . . . . . . . . . . . 0.309 0.140 T 0.0 0.026 B 0.001 0.040 B 0.148 0.180 N 1 0.090 N 0 0.065 N 1.93 0.229 T -0.21 0.103 N 0.043 0.023 -1.072 0.089 T 0.035 0.149 T 0.004 0.100 T -1.177 0.026 0.007 0.762 0.110 0.020 0.059 N c -1.320 -1.429 1.000 0.747 0.675 0.547 0 -5.78 0.022 -0.452 0.068 -0.380 0.065 0.000 0.063 0.004 0.083 4.164 0.097 . . . 4.521e-05 0 0 0 0 0 0.0001 0 0 . . . . . . . . het 952.40 71 1 27332521 . C T 952.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.761;DP=71;Dels=0.00;FS=5.836;HRun=0;HaplotypeScore=4.6523;MQ=58.13;MQ0=0;MQRankSum=-0.172;QD=13.41;ReadPosRankSum=-0.489;VQSLOD=3.0529;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,42:71:99:982,0,740 1 27427041 27427041 T C exonic SLC9A1 synonymous SNV SLC9A1:NM_003047:exon12:c.A2205G:p.E735E 0.99 1. 0.98 1. 0.96 1. 0.9694 0.9961 0.9814 1 0.9465 0.9568 0.9626 0.9890 0.97 0.99 0.96 0.99 0.96 rs4418629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9683 0.9957 0.9813 0.9037 1 0.9452 0.9611 0.9564 0.9884 0.9720 0.9939 0.9714 0.8874 1 0.9421 0.9657 0.9611 hom 8838.53 250 1 27427041 . T C 8838.53 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.7415;MQ=59.52;MQ0=0;QD=35.35;VQSLOD=3.6415;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8838,707,0 1 27432505 27432505 G A exonic SLC9A1 synonymous SNV SLC9A1:NM_003047:exon5:c.C1356T:p.I452I 0.0012 0.0008 0.0014 . 0.004 . 0.0027 0.0007 0.0017 0 0.0008 0.0039 0.0034 0.0016 0.0038 0.0009 0.0052 . 0.0082 rs35607809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0005 0.0023 0.0010 0 0.0008 0.0042 0.0033 0.0018 0.0029 0.0007 0 0 0 0 0.0055 0 het 902.97 62 1 27432505 . G A 902.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.856;DP=62;Dels=0.00;FS=2.337;HRun=1;HaplotypeScore=0.7887;MQ=59.63;MQ0=0;MQRankSum=-0.163;QD=14.56;ReadPosRankSum=-0.417;VQSLOD=5.9965;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,34:62:99:933,0,705 1 27676925 27676925 G A exonic SYTL1 synonymous SNV SYTL1:NM_001193308:exon10:c.G954A:p.K318K,SYTL1:NM_032872:exon10:c.G918A:p.K306K 0.24 0.14 0.21 0.18 0.38 0.34 0.3132 0.1630 0.1564 0.1726 0.4081 0.3652 0.3215 0.3428 0.31 0.17 0.38 0.27 0.34 rs6702341 COSM3997465;COSM3997464;COSM3997466 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3121 0.1519 0.1629 0.2740 0.1742 0.4045 0.3759 0.3091 0.3466 0.3083 0.1440 0.1839 0.2167 0.1698 0.4033 0.4029 0.3497 het 2269.45 215 1 27676925 . G A 2269.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.286;DP=215;Dels=0.00;FS=1.691;HRun=2;HaplotypeScore=9.4316;MQ=59.48;MQ0=0;MQRankSum=0.279;QD=10.56;ReadPosRankSum=-0.359;VQSLOD=3.9749;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,90:215:99:2299,0,3224 1 27677409 27677409 G A exonic SYTL1 nonsynonymous SNV SYTL1:NM_001193308:exon11:c.G1130A:p.G377D,SYTL1:NM_032872:exon11:c.G1094A:p.G365D 0.016 0.0015 0.037 . 0.044 0.0072 0.0210 0.0064 0.0154 0 0.0040 0.0318 0.0191 0.0090 0.027 0.007 0.037 0.033 0.016 rs113120872 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.525 0.117 N 1.000 0.090 N -1.415 0.006 N 3.1 0.083 T 1.44 0.008 N 0.035 0.317 -0.944 0.420 T 0.001 0.005 T . . . -0.735 0.043 0.060 0.844 0.147 0.041 0.094 N c -1.490 -1.383 1.000 0.747 0.726 0.872 0 -2.65 0.057 0.584 0.234 0.127 0.214 0.058 0.215 0.987 0.523 6.109 0.192 C2 domain . . 0.0207 0.0049 0.0187 0.0255 5.811e-05 0.0045 0.0323 0.0289 0.0090 0.0173 0.0047 0.0167 0.0232 0 0.0034 0.0290 0.0266 het 974.47 94 1 27677409 . G A 974.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.559;DP=94;Dels=0.00;FS=4.099;HRun=0;HaplotypeScore=2.6448;MQ=59.36;MQ0=0;MQRankSum=-0.027;QD=10.37;ReadPosRankSum=0.606;VQSLOD=5.3047;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,43:94:99:1004,0,1374 1 27679797 27679797 A G exonic SYTL1 nonsynonymous SNV SYTL1:NM_001193308:exon14:c.A1367G:p.Q456R,SYTL1:NM_032872:exon14:c.A1331G:p.Q444R 0.48 0.35 0.43 0.25 0.68 0.73 0.6508 0.4558 0.4485 0.3327 0.7133 0.7138 0.6661 0.7181 0.6 0.41 0.7 0.43 0.53 rs3813795 COSM4143749;COSM4143748 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.003 0.358 N 1 0.090 P -1.195 0.008 N 3.28 0.065 T 2.58 0.002 N 0.085 0.080 -0.999 0.301 T 0.000 0.000 T . . . 0.577 0.149 7.994 0.697 0.088 0.059 0.117 N c -1.111 -0.877 0.992 0.328 0.706 0.609 0 2.68 0.307 1.041 0.297 -0.221 0.097 0.134 0.232 0.996 0.625 4.745 0.123 C2 domain ENSG00000142733.10|ENSG00000174950.6 Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.5868 0.3890 0.3474 0.6657 0.2444 0.6598 0.6886 0.6047 0.7042 0.5780 0.3918 0.4296 0.6689 0.2528 0.6597 0.7061 0.6258 hom 653.94 22 1 27679797 . A G 653.94 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.72;VQSLOD=13.2972;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:57.17:687,57,0 1 27679954 27679954 G A exonic SYTL1 synonymous SNV SYTL1:NM_001193308:exon14:c.G1524A:p.G508G,SYTL1:NM_032872:exon14:c.G1488A:p.G496G 0.24 0.12 0.22 0.18 0.37 0.35 0.3509 0.1870 0.2157 0.1983 0.4540 0.3958 0.3567 0.3773 0.29 0.16 0.36 0.23 0.28 rs1128918 COSM3751127;COSM3751128 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3062 0.1477 0.1602 0.3032 0.1645 0.4048 0.3630 0.3035 0.3558 0.3022 0.1423 0.1782 0.2781 0.1588 0.4060 0.3916 0.3432 het 289.09 20 1 27679954 . G A 289.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.579;DP=20;Dels=0.00;FS=7.761;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.810;QD=14.45;ReadPosRankSum=-0.347;VQSLOD=4.0266;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,12:20:99:319,0,224 1 27680292 27680292 A G exonic SYTL1 synonymous SNV SYTL1:NM_001193308:exon15:c.A1638G:p.E546E,SYTL1:NM_032872:exon15:c.A1602G:p.E534E 0.55 0.69 0.48 0.24 0.72 0.53 0.6224 0.6938 0.3426 0.2405 0.6935 0.7219 0.6479 0.5412 0.72 0.69 0.73 0.49 0.67 rs8533 COSM3997468;COSM3997467 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6126 0.6950 0.3700 0.7050 0.2358 0.6839 0.7277 0.6330 0.5466 0.6804 0.6892 0.4581 0.6887 0.2398 0.6819 0.7372 0.6424 hom 2441.33 71 1 27680292 . A G 2441.33 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6963;MQ=59.47;MQ0=0;QD=34.38;VQSLOD=8.3021;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2474,199,0 1 27687466 27687466 G T exonic MAP3K6 nonsynonymous SNV MAP3K6:NM_001297609:exon13:c.C1842A:p.N614K,MAP3K6:NM_004672:exon14:c.C1866A:p.N622K 0.12 0.018 0.16 0.082 0.27 0.13 0.2622 0.0647 0.1470 0.1118 0.3023 0.3407 0.2847 0.1776 0.22 0.057 0.3 0.12 0.21 rs35659744 COSM1559293;COSM1559292 1(large_intestine);7(central_nervous_system) Benign not_specified RCV000455382.1 MedGen CN169374 . . . . . . 0.104 0.299 T 0.003 0.102 B 0.004 0.093 B . . . 1 0.090 P 2.255 0.644 M -0.16 0.654 T -2.55 0.551 D 0.029 0.031 -0.981 0.349 T 0.000 0.000 T . . . 1.018 0.192 10.76 0.966 0.298 0.032 0.080 N c -0.553 -0.610 1.000 0.454 0.651 0.465 0 -0.342 0.120 0.183 0.166 0.048 0.160 0.009 0.180 0.988 0.529 4.454 0.110 . ENSG00000142765.13 Brain_Cerebellum 0.2263 0.0485 0.1393 0.3675 0.0934 0.2480 0.3034 0.2413 0.1509 0.2093 0.0566 0.1659 0.3940 0.0919 0.2476 0.2991 0.2357 het 175.47 25 1 27687466 . G T 175.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.252;DP=25;Dels=0.00;FS=3.960;HRun=2;HaplotypeScore=0.9997;MQ=60.00;MQ0=0;MQRankSum=0.204;QD=7.02;ReadPosRankSum=0.786;VQSLOD=5.2759;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,8:25:99:205,0,489 1 27688633 27688633 G A exonic MAP3K6 nonsynonymous SNV MAP3K6:NM_001297609:exon8:c.C1340T:p.T447I,MAP3K6:NM_004672:exon9:c.C1364T:p.T455I 0.31 0.098 0.21 0.54 0.38 0.36 0.3293 0.1464 0.1594 0.5177 0.3976 0.3464 0.3367 0.3658 0.28 0.15 0.35 0.23 0.32 rs1138294 COSM4143756;COSM4143757 1(pancreas);1(thyroid) . . . . . . . . . . . 0.209 0.197 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.090 P 0.49 0.133 N 2.96 0.096 T -1.66 0.397 N 0.11 0.258 -0.927 0.446 T 0.000 0.000 T . . . 1.271 0.217 12.12 0.982 0.391 0.040 0.094 N c -0.852 -0.821 1.000 0.428 0.563 0.310 0 -1.12 0.093 -1.271 0.029 -0.304 0.080 0.000 0.063 0.981 0.494 0.626 0.007 Domain of unknown function DUF4071 . . 0.3257 0.1339 0.1650 0.2246 0.5214 0.3907 0.3545 0.3200 0.3680 0.3080 0.1294 0.1998 0.1767 0.5364 0.3909 0.3747 0.3381 het 563.14 51 1 27688633 . G A 563.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.603;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7381;MQ=59.14;MQ0=0;MQRankSum=-0.388;QD=11.04;ReadPosRankSum=1.070;VQSLOD=6.0684;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,23:51:99:593,0,747 1 27875824 27875824 C T exonic AHDC1 nonsynonymous SNV AHDC1:NM_001029882:exon6:c.G2803A:p.A935T 1. 1. 1. 1. 0.99 1. 0.9956 0.9987 0.9977 1 0.9995 0.9938 0.9967 0.9956 0.99 1. 0.99 1. 0.95 rs4908364 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.390 0.133 N 1 0.090 P 0.55 0.145 N 0.97 0.425 T -0.04 0.076 N 0.036 0.016 -0.955 0.401 T 0.000 0.000 T . . . 2.136 0.318 17.09 0.899 0.186 0.006 0.026 N c -1.303 -1.238 1.000 0.480 0.696 0.567 0 -2.09 0.068 -0.683 0.052 0.090 0.195 0.000 0.063 0.999 0.750 7.470 0.264 . . . 0.9952 0.9989 0.9979 0.9760 1 0.9995 0.9939 0.9956 0.9951 0.9969 0.9987 0.9964 0.9702 1 0.9997 0.9955 0.9959 hom 3170.35 107 1 27875824 . C T 3170.35 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5989;MQ=59.57;MQ0=0;QD=29.63;VQSLOD=7.7819;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3203,259,0 1 28209305 28209305 A G exonic THEMIS2 synonymous SNV THEMIS2:NM_001105556:exon4:c.A1470G:p.L490L,THEMIS2:NM_001286115:exon4:c.A882G:p.L294L,THEMIS2:NM_001286113:exon5:c.A1083G:p.L361L 0.47 0.14 0.51 0.51 0.63 0.69 0.5906 0.2203 0.5304 0.5385 0.6072 0.6315 0.58 0.7083 0.52 0.25 0.65 0.41 0.62 rs3766398 COSM4143769 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5961 0.2103 0.5384 0.6962 0.5453 0.6037 0.6325 0.6026 0.7085 0.5033 0.2151 0.5419 0.7119 0.5519 0.6002 0.6304 0.6002 hom 6234.32 190 1 28209305 . A G 6234.32 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9114;MQ=59.17;MQ0=0;QD=32.81;VQSLOD=8.2991;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,189:190:99:6234,479,0 1 28209362 28209362 T C exonic THEMIS2 synonymous SNV THEMIS2:NM_001105556:exon4:c.T1527C:p.V509V,THEMIS2:NM_001286115:exon4:c.T939C:p.V313V,THEMIS2:NM_001286113:exon5:c.T1140C:p.V380V 0.47 0.16 0.51 0.5 0.63 0.69 0.5908 0.2283 0.5339 0.5260 0.6071 0.6317 0.5767 0.7083 0.52 0.26 0.65 0.4 0.61 rs3766399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5970 0.2193 0.5420 0.7106 0.5349 0.6036 0.6324 0.6027 0.7087 0.5041 0.2264 0.5397 0.7285 0.5351 0.6003 0.6278 0.5979 hom 5464.26 187 1 28209362 . T C 5464.26 Mask AC=2;AF=1.00;AN=2;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8933;MQ=58.59;MQ0=0;QD=29.22;VQSLOD=8.4538;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,187:187:99:5463,466,0 1 28209366 28209366 A G exonic THEMIS2 nonsynonymous SNV THEMIS2:NM_001105556:exon4:c.A1531G:p.K511E,THEMIS2:NM_001286115:exon4:c.A943G:p.K315E,THEMIS2:NM_001286113:exon5:c.A1144G:p.K382E 0.45 0.071 0.5 0.5 0.63 0.69 0.5829 0.1511 0.5262 0.5262 0.6073 0.6304 0.57 0.7077 0.48 0.15 0.64 0.38 0.61 rs3766400 . . . . . . . . . . . . . 0.532 0.070 T 0.0 0.026 B 0.0 0.013 B 0.000 0.469 N 1.000 0.548 P -2.83 0.000 N 2.66 0.126 T 1.3 0.010 N 0.021 0.366 -0.933 0.438 T 0.000 0.000 T . . . -0.338 0.066 0.542 0.726 0.097 0.103 0.157 N c -0.583 -0.437 1.000 0.747 0.628 0.401 0 4.0 0.455 0.881 0.276 0.076 0.183 0.986 0.359 0.016 0.126 3.223 0.063 CABIT domain ENSG00000130775.11|ENSG00000130775.11|ENSG00000130775.11|ENSG00000117748.5|ENSG00000130775.11 Adipose_Subcutaneous|Esophagus_Mucosa|Lung|Whole_Blood|Whole_Blood 0.5901 0.1412 0.5345 0.6979 0.5348 0.6037 0.6318 0.5985 0.7079 0.4813 0.1478 0.5372 0.7119 0.5357 0.5997 0.6275 0.5921 hom 5769.99 179 1 28209366 . A G 5769.99 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.0534;MQ=58.79;MQ0=0;QD=32.23;VQSLOD=8.6835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5769,454,0 1 28282292 28282292 T C exonic SMPDL3B nonsynonymous SNV SMPDL3B:NM_001009568:exon6:c.T788C:p.V263A,SMPDL3B:NM_001304579:exon6:c.T170C:p.V57A,SMPDL3B:NM_014474:exon6:c.T788C:p.V263A 0.19 0.07 0.26 0.21 0.27 0.18 0.2507 0.1015 0.2423 0.2648 0.3377 0.2800 0.2709 0.1889 0.23 0.11 0.3 0.13 0.24 rs3813803 COSM4143771;COSM4143770 1(thyroid) . . . . . . . . . . . 0.017 0.546 D 0.99 0.629 D 0.716 0.570 P 0.000 0.473 D 0.420 0.323 P 1.925 0.515 L -3.1 0.927 D -2.99 0.634 D 0.314 0.391 -1.516 0.000 T 0.000 0.000 T . . . 4.073 0.547 23.7 0.987 0.451 0.975 0.751 D c 0.464 0.405 1.000 0.747 0.635 0.413 0 5.34 0.759 7.585 0.817 1.061 0.807 1.000 0.715 0.117 0.195 15.291 0.735 Calcineurin-like phosphoesterase domain\x2c apaH type|Metallo-dependent phosphatase-like;Metallo-dependent phosphatase-like . . 0.2553 0.0964 0.2362 0.2369 0.2567 0.3390 0.2857 0.2619 0.1885 0.2409 0.0926 0.2302 0.2384 0.2770 0.3340 0.2999 0.2777 hom 3514.32 106 1 28282292 . T C 3514.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.699;DP=106;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.5226;MQ=59.61;MQ0=0;MQRankSum=1.666;QD=33.15;ReadPosRankSum=0.233;VQSLOD=9.5333;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,105:106:99:3514,277,0 1 28800380 28800380 C A exonic PHACTR4 nonsynonymous SNV PHACTR4:NM_023923:exon6:c.C1168A:p.L390I,PHACTR4:NM_001048183:exon7:c.C1138A:p.L380I,PHACTR4:NM_001350158:exon8:c.C1162A:p.L388I,PHACTR4:NM_001350160:exon8:c.C1138A:p.L380I,PHACTR4:NM_001350161:exon8:c.C1090A:p.L364I,PHACTR4:NM_001350159:exon9:c.C1162A:p.L388I 0.23 0.3 0.27 0.07 0.31 0.16 0.2633 0.3140 0.2158 0.0796 0.3243 0.2946 0.2862 0.2104 0.28 0.31 0.27 0.25 0.32 rs61785974 COSM3751132 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.005 0.632 D 0.328 0.314 B 0.085 0.279 B 0.795 0.067 N 0.954 0.264 P 2.47 0.719 M 1.84 0.248 T -0.71 0.202 N 0.037 0.017 -0.948 0.414 T 0.000 0.000 T . . . 0.539 0.146 7.720 0.922 0.210 0.545 0.294 D c -0.551 -0.561 0.001 0.083 0.707 0.730 0 3.3 0.368 1.500 0.351 0.837 0.341 0.280 0.249 0.265 0.231 5.478 0.159 . ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000130770.13|ENSG00000204138.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Thyroid|Whole_Blood|Whole_Blood 0.2607 0.3059 0.2216 0.2757 0.0811 0.3200 0.2923 0.2863 0.2149 0.2896 0.3102 0.2524 0.2815 0.0774 0.3090 0.2965 0.3180 het 1852.13 123 1 28800380 . C A 1852.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.592;DP=123;Dels=0.00;FS=11.275;HRun=0;HaplotypeScore=2.0756;MQ=59.47;MQ0=0;MQRankSum=-0.226;QD=15.06;ReadPosRankSum=-0.885;VQSLOD=4.1570;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,66:123:99:1882,0,1606 1 28861636 28861636 G A exonic RCC1 synonymous SNV RCC1:NM_001269:exon5:c.G516A:p.V172V,RCC1:NM_001048194:exon6:c.G609A:p.V203V,RCC1:NM_001048195:exon6:c.G567A:p.V189V,RCC1:NM_001048199:exon7:c.G516A:p.V172V 0.22 0.31 0.25 0.072 0.31 0.16 0.2637 0.2989 0.2183 0.0820 0.3045 0.2968 0.2748 0.2178 0.28 0.3 0.27 0.26 0.36 rs2066726 COSM3751133;COSM3751134 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2610 0.2975 0.2241 0.2845 0.0830 0.3003 0.2946 0.2853 0.2229 0.2837 0.2950 0.2524 0.2914 0.0767 0.2927 0.2973 0.3106 het 1919.67 160 1 28861636 . G A 1919.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.647;DP=160;Dels=0.00;FS=2.132;HRun=0;HaplotypeScore=8.5006;MQ=58.26;MQ0=0;MQRankSum=-0.399;QD=12.00;ReadPosRankSum=0.596;VQSLOD=4.4117;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,83:160:99:1950,0,2012 1 28944528 28944528 C T exonic TAF12 synonymous SNV TAF12:NM_001135218:exon3:c.G183A:p.K61K,TAF12:NM_005644:exon3:c.G183A:p.K61K 0.0006 0.0008 . . 0.002 . 0.0014 0.0006 8.64e-05 0 0.0002 0.0023 0.0011 0 0.0016 0.0009 0.002 . . rs147570760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0003 0.0005 0 0 4.486e-05 0.0027 0.0009 9.787e-05 0.0017 0.0006 0 0 0 0 0.0031 0.0010 het 1992.59 154 1 28944528 . C T 1992.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.585;DP=154;DS;Dels=0.00;FS=1.374;HRun=3;HaplotypeScore=4.9375;MQ=59.45;MQ0=0;MQRankSum=-1.155;QD=12.94;ReadPosRankSum=-0.735;VQSLOD=3.3824;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,76:154:99:2023,0,1871 1 29189597 29189597 C T exonic OPRD1 synonymous SNV OPRD1:NM_000911:exon3:c.C921T:p.G307G 0.58 0.31 0.7 0.75 0.57 0.7 0.5918 0.3612 0.7378 0.7615 0.5932 0.5498 0.5647 0.7005 0.47 0.34 0.54 0.52 0.36 rs2234918 COSM1560682 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5895 0.3315 0.7176 0.4657 0.7676 0.5734 0.5432 0.5719 0.6926 0.5150 0.3330 0.6986 0.4570 0.7728 0.5791 0.5631 0.6031 hom 1188.33 38 1 29189597 . C T 1188.33 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=31.27;VQSLOD=8.8905;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1221,102,0 1 29475648 29475648 T G exonic SRSF4 nonsynonymous SNV SRSF4:NM_005626:exon6:c.A759C:p.E253D 0.72 0.72 0.74 0.56 0.88 0.69 0.8179 0.7488 0.7386 0.5665 0.9015 0.8862 0.8238 0.7388 0.85 0.77 0.89 0.75 0.89 rs2230679 COSM3997475 4(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.331 N 1 0.090 P -1.645 0.004 N 2.58 0.134 T 0.03 0.066 N 0.023 0.006 -0.959 0.394 T 0.000 0.000 T . . . -0.776 0.041 0.048 0.717 0.094 0.059 0.117 N c -1.472 -1.383 0.999 0.392 0.707 0.730 0 -3.25 0.047 -1.476 0.024 -0.905 0.026 0.011 0.184 0.901 0.381 1.100 0.016 . . . 0.8198 0.7424 0.7489 0.8917 0.5710 0.9025 0.8890 0.8364 0.7385 0.8324 0.7425 0.7715 0.8874 0.5800 0.9078 0.8954 0.8487 hom 6045.04 183 1 29475648 . T G 6045.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.141;DP=183;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4721;MQ=59.52;MQ0=0;MQRankSum=2.961;QD=33.03;ReadPosRankSum=2.656;VQSLOD=3.0252;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:3,179:183:99:5977,427,0 1 29529699 29529699 T C exonic MECR synonymous SNV MECR:NM_001024732:exon5:c.A369G:p.A123A,MECR:NM_001349717:exon5:c.A447G:p.A149A,MECR:NM_016011:exon5:c.A597G:p.A199A,MECR:NM_001349714:exon6:c.A369G:p.A123A,MECR:NM_001349715:exon6:c.A702G:p.A234A,MECR:NM_001349716:exon6:c.A681G:p.A227A,MECR:NM_001349712:exon7:c.A369G:p.A123A,MECR:NM_001349713:exon7:c.A369G:p.A123A,MECR:NM_001349711:exon8:c.A369G:p.A123A 0.75 0.82 0.75 0.56 0.88 0.69 0.8089 0.8296 0.7316 0.5825 0.8866 0.8749 0.7946 0.7360 0.88 0.85 0.89 0.76 0.74 rs1062924 COSM3930740;COSM1748339 2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8137 0.8278 0.7440 0.8889 0.5573 0.8966 0.8834 0.8279 0.7290 0.8575 0.8339 0.7804 0.8833 0.5778 0.9061 0.8942 0.8523 hom 507.97 20 1 29529699 . T C 507.97 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.92;MQ0=0;QD=25.40;VQSLOD=7.0045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:45.11:541,45,0 1 29542637 29542637 A G exonic MECR nonsynonymous SNV MECR:NM_001024732:exon3:c.T58C:p.F20L,MECR:NM_001349717:exon3:c.T136C:p.F46L,MECR:NM_016011:exon3:c.T286C:p.F96L,MECR:NM_001349714:exon4:c.T58C:p.F20L,MECR:NM_001349715:exon4:c.T391C:p.F131L,MECR:NM_001349716:exon4:c.T370C:p.F124L,MECR:NM_001349712:exon5:c.T58C:p.F20L,MECR:NM_001349713:exon5:c.T58C:p.F20L,MECR:NM_001349711:exon6:c.T58C:p.F20L 0.72 0.72 0.73 0.56 0.88 0.69 0.8168 0.7466 0.7374 0.5670 0.8992 0.8849 0.8205 0.7388 0.85 0.77 0.89 0.74 0.9 rs1128400 COSM3997476 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.679 0.044 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.182 P 0.055 0.082 N 1.01 0.411 T 1.33 0.009 N 0.016 0.003 -1.017 0.247 T 0.000 0.000 T . . . 1.453 0.237 13.07 0.678 0.082 0.218 0.213 N c -0.937 -0.758 0.238 0.185 0.732 0.924 0 1.39 0.212 0.049 0.139 0.128 0.215 0.472 0.265 0.963 0.446 4.877 0.129 Alcohol dehydrogenase\x2c N-terminal|GroES-like;Alcohol dehydrogenase\x2c N-terminal|GroES-like|Polyketide synthase\x2c enoylreductase domain . . 0.8190 0.7423 0.7464 0.8898 0.5719 0.9007 0.8884 0.8353 0.7386 0.8315 0.7425 0.7739 0.8841 0.5800 0.9061 0.8938 0.8493 hom 5969.34 184 1 29542637 . A G 5969.34 Mask AC=2;AF=1.00;AN=2;DP=184;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6254;MQ=59.90;MQ0=0;QD=32.44;VQSLOD=9.3347;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:184:99:5969,469,0 1 29630455 29630455 C T exonic PTPRU synonymous SNV PTPRU:NM_001195001:exon16:c.C2565T:p.Y855Y,PTPRU:NM_133177:exon16:c.C2565T:p.Y855Y,PTPRU:NM_133178:exon16:c.C2565T:p.Y855Y,PTPRU:NM_005704:exon17:c.C2595T:p.Y865Y 0.38 0.35 0.33 0.64 0.16 0.38 0.2631 0.3246 0.4277 0.6492 0.1888 0.1550 0.2649 0.3710 0.2 0.32 0.14 0.32 0.2 rs2295061 COSM1748344;COSM1748343;COSM1748345 1(haematopoietic_and_lymphoid_tissue);2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2670 0.3217 0.4013 0.2099 0.6480 0.1971 0.1512 0.2420 0.3725 0.2321 0.3142 0.3544 0.2219 0.6360 0.1936 0.1446 0.2092 het 971.04 96 1 29630455 . C T 971.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.945;DP=96;Dels=0.00;FS=0.829;HRun=0;HaplotypeScore=1.7333;MQ=59.57;MQ0=0;MQRankSum=0.072;QD=10.11;ReadPosRankSum=0.148;VQSLOD=6.4467;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,39:96:99:1001,0,1507 1 29631909 29631909 A G exonic PTPRU nonsynonymous SNV PTPRU:NM_001195001:exon18:c.A2789G:p.N930S,PTPRU:NM_133177:exon18:c.A2789G:p.N930S,PTPRU:NM_133178:exon18:c.A2789G:p.N930S,PTPRU:NM_005704:exon19:c.A2819G:p.N940S 0.34 0.22 0.38 0.49 0.24 0.41 0.2945 0.2314 0.4288 0.4782 0.2530 0.2394 0.3018 0.3834 0.23 0.23 0.23 0.27 0.34 rs2235937 COSM3997477;COSM146456;COSM3997478 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.798 0.031 T 0.0 0.026 B 0.0 0.040 B 0.001 0.436 D 0.904 0.276 P -0.47 0.027 N 1.62 0.282 T -0.54 0.166 N 0.012 0.069 -0.902 0.478 T 0.000 0.000 T . . . 0.761 0.166 9.220 0.527 0.047 0.786 0.385 D c -0.577 -0.446 0.804 0.242 0.706 0.609 0 1.77 0.237 1.679 0.370 0.237 0.263 0.133 0.232 0.846 0.353 6.934 0.235 PTP type protein phosphatase|Protein-tyrosine phosphatase-like . . 0.3006 0.2268 0.4126 0.3320 0.4766 0.2542 0.2322 0.3041 0.3870 0.2565 0.2239 0.3711 0.3609 0.4709 0.2524 0.2436 0.2751 het 2093.92 192 1 29631909 . A G 2093.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.188;DP=192;Dels=0.00;FS=5.183;HRun=0;HaplotypeScore=3.8083;MQ=59.57;MQ0=0;MQRankSum=0.922;QD=10.91;ReadPosRankSum=-1.395;VQSLOD=4.8807;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,82:192:99:2124,0,2845 1 29644328 29644328 C T exonic PTPRU synonymous SNV PTPRU:NM_001195001:exon25:c.C3573T:p.R1191R,PTPRU:NM_133178:exon25:c.C3582T:p.R1194R,PTPRU:NM_005704:exon26:c.C3612T:p.R1204R,PTPRU:NM_133177:exon26:c.C3600T:p.R1200R 0.073 0.088 0.053 0.004 0.12 0.093 0.0923 0.0918 0.0473 0.0010 0.1230 0.1029 0.0998 0.1162 0.093 0.09 0.095 0.065 0.098 rs1045453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0924 0.0900 0.0508 0.1593 0.0010 0.1205 0.1011 0.0958 0.1167 0.0935 0.0849 0.0477 0.1523 0 0.1222 0.1022 0.1110 het 1713.53 116 1 29644328 . C T 1713.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.463;DP=116;Dels=0.00;FS=3.595;HRun=0;HaplotypeScore=4.7553;MQ=60.00;MQ0=0;MQRankSum=0.965;QD=14.77;ReadPosRankSum=-0.025;VQSLOD=4.9426;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,64:116:99:1744,0,1264 1 31188089 31188089 C T exonic MATN1 synonymous SNV MATN1:NM_002379:exon6:c.G1275A:p.E425E 0.29 0.26 0.41 0.18 0.36 0.27 0.3253 0.2791 0.4120 0.1700 0.4094 0.3391 0.3135 0.2860 0.32 0.29 0.34 0.3 0.3 rs1065755 COSM4143785 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3322 0.2798 0.4093 0.2764 0.1664 0.4209 0.3424 0.3265 0.2845 0.3310 0.2837 0.3998 0.2649 0.1374 0.4124 0.3562 0.3574 hom 4983.44 160 1 31188089 . C T 4983.44 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6671;MQ=59.51;MQ0=0;QD=31.15;VQSLOD=9.3306;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4983,400,0 1 31188901 31188901 A G exonic MATN1 synonymous SNV MATN1:NM_002379:exon5:c.T1062C:p.T354T 0.6 0.84 0.68 0.61 0.47 0.37 0.5111 0.7819 0.7223 0.5979 0.5407 0.4531 0.4714 0.3720 0.56 0.77 0.45 0.65 0.41 rs20566 COSM3997479 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5151 0.7867 0.6986 0.3652 0.5958 0.5463 0.4582 0.4925 0.3708 0.5789 0.7871 0.6842 0.3841 0.5466 0.5492 0.4706 0.5133 hom 5707.34 192 1 31188901 . A G 5707.34 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4972;MQ=59.66;MQ0=0;QD=29.73;VQSLOD=8.4645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:5706,457,0 1 31215364 31215364 T C exonic LAPTM5 synonymous SNV LAPTM5:NM_006762:exon2:c.A120G:p.S40S 0.6 0.62 0.69 0.67 0.53 0.54 0.5520 0.6052 0.7461 0.6951 0.5821 0.4887 0.5466 0.5521 0.52 0.59 0.49 0.63 0.39 rs1050663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5559 0.6031 0.7299 0.4791 0.6941 0.5818 0.4824 0.5440 0.5401 0.5482 0.5980 0.7033 0.4702 0.6698 0.5676 0.4933 0.5644 het 545.76 38 1 31215364 . T C 545.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.138;DP=38;Dels=0.00;FS=7.256;HRun=1;HaplotypeScore=0.0000;MQ=57.38;MQ0=0;MQRankSum=0.990;QD=14.36;ReadPosRankSum=0.103;VQSLOD=4.4133;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,22:38:99:576,0,414 1 31346199 31346199 G A exonic SDC3 synonymous SNV SDC3:NM_014654:exon5:c.C1188T:p.G396G 0.059 0.0045 0.052 0.075 0.11 0.067 0.0905 0.0185 0.0425 0.0782 0.1216 0.1155 0.0741 0.0634 0.084 0.025 0.11 0.076 0.098 rs1539360 COSM5619179;COSM5619178 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0893 0.0170 0.0428 0.0872 0.0788 0.1231 0.1157 0.0920 0.0618 0.0858 0.0207 0.0525 0.0927 0.0921 0.1175 0.1162 0.1043 het 1214.98 100 1 31346199 . G A 1214.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.128;DP=100;Dels=0.00;FS=4.295;HRun=0;HaplotypeScore=4.9589;MQ=59.77;MQ0=0;MQRankSum=-1.679;QD=12.15;ReadPosRankSum=-1.232;VQSLOD=3.6213;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,48:100:99:1245,0,1260 1 31349642 31349642 C T exonic SDC3 synonymous SNV SDC3:NM_014654:exon3:c.G627A:p.R209R 0.015 0.0015 0.033 . 0.043 0.0072 0.0289 0.0071 0.0191 0 0.0269 0.0424 0.02 0.0075 0.029 0.0079 0.04 0.043 0.025 rs41269521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0273 0.0064 0.0198 0.0644 5.903e-05 0.0225 0.0404 0.0354 0.0060 0.0256 0.0068 0.0239 0.0662 0 0.0238 0.0392 0.0255 het 571.10 38 1 31349642 . C T 571.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.262;DP=38;Dels=0.00;FS=14.520;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.547;QD=15.03;ReadPosRankSum=-1.552;VQSLOD=2.8893;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,22:38:99:601,0,438 1 31349647 31349647 C T exonic SDC3 nonsynonymous SNV SDC3:NM_014654:exon3:c.G622A:p.V208I 0.076 0.0091 0.1 0.035 0.21 0.054 0.1599 0.0365 0.0764 0.0525 0.1982 0.2178 0.1305 0.0955 0.15 0.042 0.21 0.11 0.074 rs2491132 . . other Obesity\x2c_association_with RCV000013593.17 MedGen C4016383 . . . . . . 0.681 0.044 T 0.002 0.090 B 0.001 0.040 B 0.716 0.100 N 1 0.090 P -0.46 0.027 N 1.99 0.219 T -0.08 0.082 N 0.019 0.005 -0.956 0.399 T 0.000 0.000 T . . . -1.423 0.019 0.003 0.775 0.115 0.022 0.063 N c -1.604 -1.677 1.000 0.747 0.744 0.983 0 -8.71 0.007 -1.922 0.016 -0.265 0.087 0.000 0.063 0.517 0.274 6.035 0.188 . . . 0.1504 0.0320 0.0826 0.1375 0.0497 0.1923 0.2156 0.1656 0.0788 0.1614 0.0383 0.0945 0.1490 0.0573 0.1890 0.2407 0.1848 het 527.90 38 1 31349647 . C T 527.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.090;DP=38;Dels=0.00;FS=14.520;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.345;QD=13.89;ReadPosRankSum=-0.931;VQSLOD=3.5113;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,22:38:99:558,0,372 1 31351513 31351513 G A exonic SDC3 synonymous SNV SDC3:NM_014654:exon2:c.C213T:p.P71P 0.18 0.029 0.28 0.11 0.3 0.25 0.2595 0.0697 0.3001 0.1210 0.3756 0.2918 0.2489 0.2468 0.21 0.076 0.28 0.15 0.19 rs1891419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2656 0.0656 0.3024 0.1941 0.1230 0.3837 0.2923 0.2600 0.2463 0.2367 0.0677 0.3074 0.1954 0.1381 0.3865 0.3029 0.3125 het 1889.81 158 1 31351513 . G A 1889.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.731;DP=158;Dels=0.00;FS=2.020;HRun=0;HaplotypeScore=7.7870;MQ=59.14;MQ0=0;MQRankSum=2.775;QD=11.96;ReadPosRankSum=0.740;VQSLOD=3.8305;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,74:158:99:1920,0,2100 1 31898234 31898234 T C exonic SERINC2 synonymous SNV SERINC2:NM_001199037:exon4:c.T462C:p.I154I,SERINC2:NM_018565:exon4:c.T462C:p.I154I,SERINC2:NM_178865:exon4:c.T450C:p.I150I,SERINC2:NM_001199038:exon5:c.T477C:p.I159I,SERINC2:NM_001199039:exon5:c.T285C:p.I95I 0.35 0.15 0.45 0.36 0.56 0.33 0.4862 0.2094 0.4537 0.3402 0.5222 0.5803 0.5033 0.3646 0.45 0.23 0.57 0.35 0.5 rs4949402 COSM3997481 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4918 0.2059 0.4660 0.5663 0.3486 0.5347 0.5790 0.5175 0.3662 0.4558 0.2052 0.4714 0.5563 0.3618 0.5355 0.5855 0.5276 hom 4556.59 140 1 31898234 . T C 4556.59 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.1557;MQ=59.19;MQ0=0;QD=32.55;VQSLOD=9.9667;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:140:99:4556,355,0 1 31898687 31898687 C T exonic SERINC2 synonymous SNV SERINC2:NM_001199037:exon5:c.C549T:p.I183I,SERINC2:NM_018565:exon5:c.C549T:p.I183I,SERINC2:NM_178865:exon5:c.C537T:p.I179I,SERINC2:NM_001199038:exon6:c.C564T:p.I188I,SERINC2:NM_001199039:exon6:c.C372T:p.I124I 0.061 . 0.16 0.086 0.034 0.072 0.0607 0.0078 0.2034 0.0916 0.0540 0.0366 0.0608 0.0777 0.028 0.01 0.037 0.033 0.0082 rs2275434 COSM3751137;COSM5827849 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0670 0.0079 0.1964 0.0382 0.0936 0.0558 0.0349 0.0587 0.0758 0.0399 0.0080 0.1818 0.0233 0.1025 0.0590 0.0387 0.0531 het 3832.99 197 1 31898687 . C T 3832.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.336;DP=197;DS;Dels=0.00;FS=0.900;HRun=1;HaplotypeScore=6.8194;MQ=59.55;MQ0=0;MQRankSum=0.688;QD=19.46;ReadPosRankSum=-1.528;VQSLOD=2.8977;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:89,108:197:99:3275,0,2130 1 32084904 32084904 C T exonic HCRTR1 synonymous SNV HCRTR1:NM_001525:exon3:c.C111T:p.R37R 0.35 0.079 0.47 0.24 0.56 0.55 0.4903 0.1434 0.4871 0.2471 0.5634 0.5534 0.5231 0.5526 0.42 0.16 0.55 0.34 0.43 rs1056526 COSM3746932;COSM3746931 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4960 0.1364 0.4846 0.5627 0.2524 0.5626 0.5508 0.5082 0.5531 0.4147 0.1344 0.5095 0.5828 0.2438 0.5622 0.5445 0.5501 hom 7609.26 248 1 32084904 . C T 7609.26 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5191;MQ=59.66;MQ0=0;QD=30.68;VQSLOD=8.8001;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7608,623,0 1 32092525 32092525 A G exonic HCRTR1 nonsynonymous SNV HCRTR1:NM_001525:exon9:c.A1222G:p.I408V 0.44 0.28 0.51 0.24 0.63 0.62 0.5567 0.3071 0.5162 0.2475 0.6287 0.6177 0.6093 0.6253 0.51 0.31 0.61 0.49 0.51 rs2271933 COSM1341730 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.001 0.418 N 1 0.588 P -1.43 0.006 N 0.31 0.586 T 0.09 0.059 N 0.111 0.120 -0.925 0.449 T 0.000 0.000 T . . . -0.075 0.087 1.920 0.719 0.095 0.037 0.089 N c -0.896 -0.657 1.000 0.517 0.498 0.195 0 3.78 0.425 1.840 0.386 -0.243 0.092 0.982 0.353 0.984 0.507 8.216 0.305 . ENSG00000162517.8|ENSG00000162517.8 Artery_Aorta|Artery_Tibial 0.5579 0.2951 0.5172 0.6081 0.2514 0.6246 0.6164 0.5745 0.6257 0.4986 0.2914 0.5420 0.6291 0.2383 0.6138 0.6078 0.6137 hom 7137.03 239 1 32092525 . A G 7137.03 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.482;DP=239;DS;Dels=0.00;FS=2.963;HRun=0;HaplotypeScore=6.3487;MQ=59.24;MQ0=0;MQRankSum=1.880;QD=29.86;ReadPosRankSum=0.906;VQSLOD=3.8911;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,237:239:99:7064,521,0 1 32096265 32096265 A G exonic PEF1 synonymous SNV PEF1:NM_012392:exon5:c.T804C:p.I268I 0.36 0.079 0.47 0.25 0.57 0.54 0.4955 0.1451 0.4911 0.2567 0.5675 0.5596 0.5310 0.5549 0.43 0.17 0.56 0.34 0.5 rs1061770 COSM3746933 1(breast);1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5011 0.1376 0.4889 0.5744 0.2628 0.5646 0.5571 0.5137 0.5545 0.4199 0.1351 0.5167 0.5960 0.2519 0.5633 0.5527 0.5530 hom 2628.77 84 1 32096265 . A G 2628.77 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.41;MQ0=0;QD=31.29;VQSLOD=8.5047;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2662,205,0 1 32148571 32148571 A G exonic COL16A1 synonymous SNV COL16A1:NM_001856:exon37:c.T2502C:p.P834P 1. 1. 1. 1. 1. 1. 0.9998 0.9971 0.9999 1 1 1 1 1 1. 1. 1. 1. 0.98 rs10737358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9972 0.9999 1 1 1 1.0000 0.9996 1 0.9992 0.9972 1 1 1 1 1 1 hom 2087.55 66 1 32148571 . A G 2087.55 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.627;DP=66;Dels=0.00;FS=5.891;HRun=2;HaplotypeScore=3.9871;MQ=59.30;MQ0=0;MQRankSum=1.627;QD=31.63;ReadPosRankSum=1.102;VQSLOD=3.5154;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,65:66:99:2121,142,0 1 32158076 32158076 T C exonic COL16A1 nonsynonymous SNV COL16A1:NM_001856:exon16:c.A1193G:p.K398R 0.0028 . 0.0086 . 0.007 0.001 0.0051 0.0017 0.0034 0 0.0003 0.0081 0.0081 0.0007 0.0066 0.002 0.0087 0.033 0.0082 rs115606583 . . . . . . . . . . . . . 0.128 0.269 T 1.0 0.899 D 1.0 0.971 D 0.000 0.486 D 1 0.810 D 1.115 0.288 L -3.76 0.956 D -0.56 0.389 N 0.212 0.275 0.360 0.885 D 0.740 0.911 D 0.241 0.888 D 1.560 0.249 13.63 0.993 0.577 0.546 0.294 D c 0.148 0.157 1.000 0.451 0.615 0.352 0 4.53 0.548 1.171 0.313 1.061 0.807 1.000 0.715 0.995 0.604 8.593 0.327 . . . 0.0053 0.0012 0.0038 0.0287 0 0.0003 0.0073 0.0062 0.0009 0.0033 0.0010 0.0048 0.0298 0 0.0006 0.0051 0.0020 het 820.80 60 1 32158076 . T C 820.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.022;DP=60;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=58.84;MQ0=0;MQRankSum=0.244;QD=13.68;ReadPosRankSum=0.215;VQSLOD=5.9749;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,32:60:99:851,0,753 1 32158374 32158374 T C exonic COL16A1 synonymous SNV COL16A1:NM_001856:exon14:c.A1107G:p.P369P 0.63 0.77 0.68 0.36 0.65 0.67 0.6330 0.7338 0.6053 0.3207 0.6485 0.6489 0.65 0.6839 0.67 0.73 0.64 0.64 0.59 rs3818788 COSM3746934;COSM3746935 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6256 0.7382 0.6056 0.5675 0.3250 0.6495 0.6462 0.6434 0.6836 0.6585 0.7232 0.6337 0.5828 0.3185 0.6575 0.6588 0.6918 hom 1964.32 70 1 32158374 . T C 1964.32 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.67;MQ0=0;QD=28.06;VQSLOD=7.6522;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:1997,159,0 1 32164206 32164206 T G exonic COL16A1 synonymous SNV COL16A1:NM_001856:exon5:c.A268C:p.R90R 0.63 0.82 0.66 0.35 0.65 0.6 0.6289 0.7889 0.5856 0.3230 0.6439 0.6548 0.6371 0.6128 0.7 0.79 0.65 0.61 0.59 rs2228550 COSM3746937;COSM3746936 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6200 0.7904 0.5878 0.5754 0.3240 0.6459 0.6525 0.6394 0.6104 0.6771 0.7758 0.6319 0.5795 0.3176 0.6556 0.6668 0.6944 hom 1546.60 50 1 32164206 . T G 1546.60 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.63;MQ0=0;QD=30.93;VQSLOD=8.1202;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1580,126,0 1 32165495 32165495 G T exonic COL16A1 nonsynonymous SNV COL16A1:NM_001856:exon4:c.C185A:p.T62K 0.43 0.26 0.46 0.27 0.65 0.57 0.5629 0.3047 0.4545 0.2643 0.6400 0.6430 0.5933 0.5917 0.54 0.35 0.63 0.42 0.57 rs2228552 . . . . . . . . . . . . . 0.032 0.446 D 0.969 0.548 D 0.473 0.450 P 0.689 0.102 N 1 0.090 P 2.42 0.702 M 1.85 0.245 T -0.68 0.195 N 0.094 0.118 -0.969 0.375 T 0.000 0.000 T . . . 0.204 0.113 4.717 0.896 0.184 0.063 0.121 N c -1.314 -1.390 1.000 0.747 0.615 0.372 0 -2.4 0.062 -0.481 0.066 -1.931 0.005 0.000 0.063 0.723 0.315 8.052 0.296 Laminin G domain ENSG00000084636.13 Thyroid 0.5591 0.3013 0.4602 0.5662 0.2673 0.6412 0.6413 0.5905 0.5933 0.5276 0.2885 0.5167 0.5662 0.2716 0.6521 0.6570 0.6571 hom 3377.56 106 1 32165495 . G T 3377.56 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6988;MQ=58.15;MQ0=0;QD=31.86;VQSLOD=8.2309;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3377,259,0 1 32193647 32193647 T C exonic ADGRB2 synonymous SNV ADGRB2:NM_001294336:exon31:c.A4449G:p.A1483A,ADGRB2:NM_001294335:exon32:c.A4548G:p.A1516A 0.6 0.83 0.52 0.35 0.65 0.57 0.6758 0.8094 0.6000 0.4432 0.6922 0.6978 0.6389 0.6393 0.7 0.8 0.65 0.63 0.17 rs1127100 COSM3751138 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5980 0.7966 0.4903 0.5684 0.3207 0.6404 0.6456 0.6151 0.6095 0.6775 0.7876 0.5513 0.5762 0.3232 0.6552 0.6657 0.6872 hom 455.42 16 1 32193647 . T C 455.42 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=28.46;VQSLOD=7.8517;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:39.12:488,39,0 1 32196647 32196647 C G exonic ADGRB2 synonymous SNV ADGRB2:NM_001294336:exon28:c.G4035C:p.P1345P,ADGRB2:NM_001294335:exon29:c.G4134C:p.P1378P 0.39 0.76 0.26 0.23 0.16 0.36 0.3280 0.6924 0.3511 0.2891 0.3134 0.2284 0.3120 0.4573 0.3 0.58 0.16 0.41 0.049 rs909001 COSM3751139 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2590 0.6781 0.2713 0.1582 0.2279 0.2357 0.1778 0.2251 0.3913 0.3315 0.6694 0.2799 0.1367 0.2309 0.2334 0.1800 0.2724 het 218.93 17 1 32196647 . C G 218.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.358;DP=17;Dels=0.00;FS=6.726;HRun=2;HaplotypeScore=1.7719;MQ=60.00;MQ0=0;MQRankSum=-1.876;QD=12.88;ReadPosRankSum=1.010;VQSLOD=3.3409;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,9:17:99:249,0,205 1 32207720 32207720 G A exonic ADGRB2 nonsynonymous SNV ADGRB2:NM_001294335:exon8:c.C1351T:p.P451S,ADGRB2:NM_001294336:exon8:c.C1351T:p.P451S . . . . . . 0.0002 0.0003 0 0 0 0.0002 0 0 0.0005 0.0005 0.0005 . . rs139751061 . . . . . . . . . . . . . 0.513 0.398 T 0.058 0.320 B 0.18 0.372 B 0.002 0.384 N 0.980 0.396 D 1.93 0.516 L 0.77 0.496 T -1.03 0.344 N 0.308 0.405 -0.901 0.480 T 0.146 0.471 T 0.015 0.351 T 3.185 0.442 22.7 0.991 0.519 0.915 0.534 D c -0.005 0.098 1.000 0.747 0.718 0.821 0 4.1 0.470 2.263 0.427 1.048 0.713 0.996 0.391 0.959 0.439 15.639 0.766 . . . 0.0002 0.0003 0 0 0 0 0.0005 0 0 0.0003 0.0002 0 0 0 0.0003 0.0003 0 het 654.17 56 1 32207720 . G A 654.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.686;DP=56;Dels=0.00;FS=1.451;HRun=0;HaplotypeScore=2.9141;MQ=57.83;MQ0=0;MQRankSum=1.363;QD=11.68;ReadPosRankSum=1.304;VQSLOD=3.3082;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,28:56:99:684,0,651 1 32221913 32221913 G A exonic ADGRB2 synonymous SNV ADGRB2:NM_001294335:exon4:c.C525T:p.P175P,ADGRB2:NM_001294336:exon4:c.C525T:p.P175P 0.14 0.033 0.17 0.11 0.11 0.3 0.1632 0.0461 0.2224 0.1232 0.1792 0.1319 0.1551 0.3236 0.1 0.046 0.13 0.054 0.11 rs4949223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1650 0.0393 0.2102 0.1279 0.1287 0.1772 0.1299 0.1481 0.3235 0.1176 0.0416 0.2136 0.1060 0.1278 0.1822 0.1368 0.1741 het 1331.85 86 1 32221913 . G A 1331.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.937;DP=86;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=1.4538;MQ=59.30;MQ0=0;MQRankSum=0.416;QD=15.49;ReadPosRankSum=1.711;VQSLOD=5.7753;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,50:86:99:1362,0,834 1 32279629 32279629 G A exonic SPOCD1 nonsynonymous SNV SPOCD1:NM_001281987:exon2:c.C1306T:p.R436W,SPOCD1:NM_144569:exon2:c.C1306T:p.R436W 0.35 0.19 0.5 0.42 0.44 0.28 0.4068 0.2171 0.4969 0.4407 0.4703 0.4475 0.3795 0.2534 0.37 0.22 0.44 0.38 0.43 rs6669563 COSM146457 1(stomach);1(urinary_tract);1(meninges) . . . . . . . . . . . 0.103 0.303 T 0.825 0.439 P 0.237 0.368 B . . . 1 0.090 P 0.345 0.112 N 1.84 0.247 T -0.46 0.150 N 0.029 0.138 -0.929 0.443 T 0.000 0.000 T . . . 2.740 0.390 21.0 0.968 0.306 0.028 0.074 N c -0.813 -0.933 0.756 0.234 0.476 0.093 0 0.152 0.141 0.055 0.140 0.040 0.155 0.000 0.063 0.001 0.043 3.809 0.082 . . . 0.4141 0.2097 0.4958 0.4902 0.4359 0.4667 0.4424 0.4252 0.2474 0.3786 0.2103 0.4773 0.4437 0.4531 0.4722 0.4369 0.4264 het 1587.34 110 1 32279629 . G A 1587.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.019;DP=110;Dels=0.00;FS=13.993;HRun=0;HaplotypeScore=2.8857;MQ=59.34;MQ0=0;MQRankSum=-0.302;QD=14.43;ReadPosRankSum=1.294;VQSLOD=3.6773;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,54:110:99:1617,0,1456 1 32280610 32280610 T C exonic SPOCD1 nonsynonymous SNV SPOCD1:NM_001281987:exon2:c.A325G:p.T109A,SPOCD1:NM_144569:exon2:c.A325G:p.T109A 0.69 0.64 0.67 0.72 0.67 0.75 0.6822 0.6373 0.6319 0.7016 0.6655 0.6900 0.6574 0.7118 0.67 0.64 0.69 0.67 0.64 rs6664445 COSM4143799 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.695 0.019 N 2.2 0.187 T 1.15 0.012 N 0.018 0.003 -0.938 0.429 T 0.000 0.000 T . . . -1.922 0.009 0.001 0.147 0.003 0.000 0.002 N c -1.345 -1.321 0.993 0.331 0.476 0.093 0 2.32 0.278 0.370 0.200 -0.019 0.130 0.008 0.178 0.003 0.074 4.638 0.118 . ENSG00000134668.8|ENSG00000134668.8 Esophagus_Mucosa|Thyroid 0.6796 0.6329 0.6381 0.7100 0.6989 0.6699 0.6870 0.6755 0.7081 0.6657 0.6380 0.6313 0.6788 0.7198 0.6696 0.6769 0.6619 het 1811.28 115 1 32280610 . T C 1811.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.650;DP=115;Dels=0.00;FS=8.052;HRun=0;HaplotypeScore=2.7520;MQ=59.40;MQ0=0;MQRankSum=1.525;QD=15.75;ReadPosRankSum=-0.607;VQSLOD=4.4521;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,59:115:99:1841,0,1417 1 32557486 32557486 A G exonic TMEM39B synonymous SNV TMEM39B:NM_001319678:exon4:c.A204G:p.S68S,TMEM39B:NM_001319679:exon4:c.A204G:p.S68S,TMEM39B:NM_001319677:exon6:c.A420G:p.S140S,TMEM39B:NM_018056:exon6:c.A801G:p.S267S 0.22 0.29 0.23 0.24 0.06 0.28 0.1241 0.2699 0.1482 0.2426 0.0951 0.0589 0.1007 0.2298 0.13 0.27 0.065 0.21 0.082 rs744455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1234 0.2693 0.1406 0.0673 0.2497 0.1026 0.0594 0.0957 0.2313 0.1418 0.2612 0.1325 0.0629 0.2668 0.0950 0.0740 0.1110 het 1091.44 91 1 32557486 . A G 1091.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.833;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8911;MQ=58.82;MQ0=0;MQRankSum=0.420;QD=11.99;ReadPosRankSum=-1.108;VQSLOD=5.1707;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:42,45:91:99:1121,0,1157 1 32672908 32672908 T G exonic IQCC nonsynonymous SNV IQCC:NM_001160042:exon5:c.T866G:p.F289C,IQCC:NM_018134:exon5:c.T626G:p.F209C 0.23 0.31 0.24 0.23 0.057 0.29 0.1264 0.2939 0.1484 0.2398 0.0939 0.0593 0.1060 0.2315 0.14 0.29 0.065 0.22 0.082 rs3903683 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.091 0.204 N 1 0.090 P -1.495 0.005 N 3.11 0.082 T 5.57 0.000 N 0.068 0.055 -0.929 0.443 T 0.000 0.000 T . . . -1.398 0.019 0.003 0.576 0.057 0.001 0.008 N c -1.443 -1.376 1.000 0.429 0.660 0.495 0 2.32 0.278 1.092 0.303 -0.027 0.127 0.014 0.188 0.017 0.128 2.932 0.054 . ENSG00000220785.3|ENSG00000084652.11|ENSG00000220785.3|ENSG00000025800.9|ENSG00000220785.3 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Whole_Blood 0.1249 0.2913 0.1419 0.0676 0.2450 0.1014 0.0598 0.0955 0.2328 0.1469 0.2808 0.1348 0.0629 0.2602 0.0933 0.0743 0.1063 het 1204.87 96 1 32672908 . T G 1204.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.644;DP=96;Dels=0.00;FS=1.799;HRun=0;HaplotypeScore=0.8941;MQ=59.61;MQ0=0;MQRankSum=-1.165;QD=12.55;ReadPosRankSum=-0.996;VQSLOD=6.2838;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,44:96:99:1235,0,1315 1 32674927 32674927 T C exonic DCDC2B nonsynonymous SNV DCDC2B:NM_001099434:exon1:c.T233C:p.V78A 0.0014 . 0.0029 . 0.005 . 0.0053 0.0014 0.0061 0 0.0129 0.0068 0.0045 0.0006 0.0058 0.0012 0.0081 . . rs144804850 . . . . . . . . . . . . . 0.004 0.654 D 1.0 0.899 D 1.0 0.971 D . . . 1.000 0.494 D 3.43 0.922 M -4.22 0.970 D -3.73 0.709 D 0.861 0.848 0.919 0.960 D 0.936 0.979 D . . . 5.475 0.743 26.2 0.999 0.947 0.943 0.603 D c 0.825 0.759 1.000 0.747 0.421 0.056 0 5.16 0.704 7.580 0.817 0.964 0.580 1.000 0.715 1.000 0.888 14.958 0.707 Doublecortin domain . . 0.0058 0.0011 0.0050 0.0003 0 0.0161 0.0074 0.0057 0.0011 0.0063 0.0015 0.0060 0 0 0.0163 0.0074 0.0102 het 1594.20 134 1 32674927 . T C 1594.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=134;Dels=0.00;FS=0.665;HRun=0;HaplotypeScore=4.7569;MQ=59.38;MQ0=0;MQRankSum=-0.428;QD=11.90;ReadPosRankSum=0.694;VQSLOD=3.9707;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,66:134:99:1624,0,1598 1 32842319 32842319 T C exonic BSDC1 nonsynonymous SNV BSDC1:NM_001143890:exon7:c.A415G:p.I139V,BSDC1:NM_001143889:exon8:c.A532G:p.I178V,BSDC1:NM_001143888:exon9:c.A751G:p.I251V,BSDC1:NM_001300958:exon9:c.A751G:p.I251V,BSDC1:NM_018045:exon9:c.A700G:p.I234V 0.0084 0.0008 0.0058 . 0.033 0.0041 0.0243 0.0044 0.0114 0.0001 0.0496 0.0330 0.0232 0.0050 0.027 0.0066 0.037 0.011 0.098 rs34885668 . . . . . . . . . . . . . 0.614 0.173 T 0.001 0.131 B 0.007 0.179 B 0.251 0.155 N 1 0.090 N 0 0.065 N 1.0 0.414 T 0.08 0.060 N 0.013 0.069 -1.050 0.144 T 0.012 0.045 T . . . -0.734 0.043 0.060 0.702 0.089 0.384 0.257 N c -0.954 -0.840 0.074 0.157 0.707 0.730 0 0.721 0.173 -0.144 0.102 -1.191 0.016 0.665 0.281 0.922 0.397 4.765 0.124 BSD domain . . 0.0252 0.0040 0.0110 0.0219 0.0002 0.0574 0.0321 0.0247 0.0061 0.0285 0.0039 0.0119 0.0099 0 0.0559 0.0405 0.0346 het 470.26 66 1 32842319 . T C 470.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.883;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6775;MQ=59.08;MQ0=0;MQRankSum=1.410;QD=7.13;ReadPosRankSum=-0.229;VQSLOD=5.4969;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,22:66:99:500,0,1192 1 33065947 33065947 G C exonic ZBTB8A nonsynonymous SNV ZBTB8A:NM_001040441:exon5:c.G1253C:p.G418A 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs704886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 1.0000 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 3488.57 109 1 33065947 . G C 3488.57 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8184;MQ=59.43;MQ0=0;QD=32.01;VQSLOD=7.7755;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3488,262,0 1 33133968 33133968 T C exonic RBBP4 synonymous SNV RBBP4:NM_001135255:exon4:c.T450C:p.V150V,RBBP4:NM_001135256:exon4:c.T348C:p.V116V,RBBP4:NM_005610:exon4:c.T453C:p.V151V 0.97 0.89 0.98 1. 1. 1. 0.9913 0.9064 0.9959 1 1 0.9997 0.9923 1 0.97 0.91 1. 0.98 0.98 rs2762904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9932 0.9059 0.9953 0.9994 1 1 0.9997 0.9927 1.0000 0.9729 0.9055 0.9916 1 1 1 0.9998 0.9939 hom 3311.37 109 1 33133968 . T C 3311.37 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=30.38;VQSLOD=9.3293;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3311,250,0 1 33235626 33235626 G A exonic KIAA1522 synonymous SNV KIAA1522:NM_001198972:exon6:c.G669A:p.A223A,KIAA1522:NM_020888:exon6:c.G846A:p.A282A 0.31 0.033 0.44 0.45 0.36 0.38 0.3680 0.0960 0.4557 0.4686 0.3562 0.3734 0.3414 0.3879 0.27 0.1 0.35 0.28 0.21 rs3737995 COSM3751145;COSM3751144 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3629 0.0877 0.4470 0.3032 0.4634 0.3493 0.3693 0.3540 0.3593 0.2811 0.0950 0.4057 0.2881 0.4364 0.3407 0.3480 0.3378 hom 2249.77 69 1 33235626 . G A 2249.77 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;QD=32.61;VQSLOD=9.0045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2283,181,0 1 33236255 33236255 G A exonic KIAA1522 nonsynonymous SNV KIAA1522:NM_001198972:exon6:c.G1298A:p.R433H,KIAA1522:NM_020888:exon6:c.G1475A:p.R492H 0.0014 . . . 0.004 0.0031 0.0030 0.0002 0.0005 0 0.0115 0.0039 0.0015 0.0005 0.0022 0.0002 0.0032 . 0.025 rs116386430 . . . . . . . . . . . . . 0.017 0.512 D 0.956 0.527 P 0.301 0.393 B 0.000 0.629 D 1 0.810 D 2.095 0.583 M 2.52 0.142 T -2.64 0.606 D 0.688 0.694 -1.043 0.165 T 0.033 0.142 T . . . 3.463 0.474 23.0 0.998 0.840 0.468 0.276 N c 0.188 0.178 1.000 0.747 0.563 0.310 0 3.62 0.405 2.830 0.476 0.953 0.551 0.914 0.315 0.109 0.192 12.297 0.540 . . . 0.0031 0.0002 0.0009 0 0 0.0109 0.0038 0.0020 0.0004 0.0045 0.0006 0.0012 0 0 0.0109 0.0060 0.0071 het 401.64 39 1 33236255 . G A 401.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.724;DP=39;Dels=0.00;FS=1.293;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.050;QD=10.30;ReadPosRankSum=2.144;VQSLOD=4.5379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,16:39:99:432,0,630 1 33820033 33820033 C T exonic PHC2 synonymous SNV PHC2:NM_001330488:exon7:c.G1440A:p.T480T,PHC2:NM_198040:exon8:c.G1524A:p.T508T 0.12 0.0083 0.072 0.29 0.12 0.11 0.1165 0.0267 0.0803 0.2559 0.1537 0.1214 0.1170 0.0902 0.088 0.028 0.12 0.065 0.11 rs16835408 COSM3751150 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1176 0.0244 0.0813 0.0966 0.2622 0.1543 0.1217 0.1087 0.0898 0.1084 0.0222 0.0839 0.0695 0.2932 0.1615 0.1274 0.1263 het 983.62 100 1 33820033 . C T 983.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.834;DP=100;Dels=0.00;FS=0.775;HRun=1;HaplotypeScore=3.5116;MQ=58.26;MQ0=0;MQRankSum=1.794;QD=9.84;ReadPosRankSum=0.442;VQSLOD=5.4803;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,41:100:99:1014,0,1481 1 33832865 33832865 A G exonic PHC2 synonymous SNV PHC2:NM_001330488:exon5:c.T741C:p.P247P,PHC2:NM_198040:exon6:c.T828C:p.P276P 0.73 0.88 0.49 0.77 0.63 0.74 0.6850 0.8703 0.4839 0.7781 0.6663 0.6666 0.6652 0.7437 0.73 0.85 0.67 0.8 0.7 rs6425816 COSM4143830 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6730 0.8731 0.4918 0.6975 0.7749 0.6753 0.6634 0.6548 0.7425 0.7209 0.8681 0.5155 0.6556 0.7803 0.6676 0.6603 0.6224 het 1397.13 112 1 33832865 . A G 1397.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.915;DP=112;Dels=0.00;FS=19.218;HRun=4;HaplotypeScore=0.8321;MQ=59.79;MQ0=0;MQRankSum=0.280;QD=12.47;ReadPosRankSum=0.811;VQSLOD=3.3906;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1427,0,1615 1 33957152 33957152 T G exonic ZSCAN20 nonsynonymous SNV ZSCAN20:NM_145238:exon6:c.T1294G:p.Y432D 1. 1. 1. 1. 1. 1. 0.9944 0.9995 0.9996 1 0.9763 0.9925 0.9922 1 1. 1. 1. 1. 1. rs4403594 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.192 P -2.915 0.000 N 3.45 0.053 T 2.43 0.003 N 0.061 0.354 -0.966 0.381 T 0.000 0.000 T . . . 0.843 0.174 9.728 0.499 0.042 0.060 0.118 N c -0.867 -0.526 0.769 0.236 0.372 0.050 0 5.61 0.853 2.362 0.436 0.136 0.221 0.987 0.361 0.285 0.234 14.205 0.651 SANT/Myb domain . . 0.9948 0.9994 0.9995 1 1 0.9781 0.9935 0.9956 1 0.9940 0.9990 1 1 1 0.9768 0.9940 0.9939 hom 3117.55 93 1 33957152 . T G 3117.55 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8255;MQ=60.00;MQ0=0;QD=33.52;VQSLOD=8.9893;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3151,247,0 1 33960062 33960062 A G exonic ZSCAN20 synonymous SNV ZSCAN20:NM_145238:exon8:c.A2118G:p.A706A 0.75 0.85 0.62 0.74 0.74 0.74 0.7443 0.8250 0.5276 0.7444 0.6947 0.7790 0.7257 0.7288 0.81 0.84 0.79 0.81 0.72 rs9943259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7317 0.8264 0.5495 0.6810 0.7446 0.6994 0.7853 0.7272 0.7224 0.7769 0.8318 0.6002 0.6954 0.7308 0.6975 0.7805 0.7694 hom 5605.23 179 1 33960062 . A G 5605.23 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1814;MQ=58.55;MQ0=0;QD=31.31;VQSLOD=8.1221;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5604,451,0 1 34038214 34038214 T C exonic CSMD2 nonsynonymous SNV CSMD2:NM_001281956:exon50:c.A7654G:p.M2552V,CSMD2:NM_052896:exon51:c.A7660G:p.M2554V 0.51 0.54 0.65 0.41 0.49 0.48 0.4996 0.5201 0.7271 0.3764 0.5 0.4729 0.4747 0.5009 0.48 0.52 0.47 0.5 0.51 rs2641962 COSM3751157;COSM3751158 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.672 0.045 T 0.0 0.026 B 0.001 0.040 B 0.036 0.245 N 1 0.090 P -1.77 0.003 N -0.0 0.626 T 1.14 0.012 N 0.017 0.004 -0.933 0.437 T 0.000 0.000 T . . . -1.909 0.009 0.002 0.325 0.019 0.033 0.082 N c -1.620 -1.403 0.421 0.203 0.615 0.372 0 1.67 0.230 0.298 0.187 -1.712 0.008 0.118 0.229 0.573 0.284 6.160 0.194 Sushi/SCR/CCP domain ENSG00000121904.13 Thyroid 0.5091 0.5214 0.7102 0.6208 0.3778 0.4925 0.4613 0.5340 0.5026 0.4804 0.5129 0.6746 0.6358 0.3688 0.4914 0.4567 0.4835 het 2002.50 188 1 34038214 . T C 2002.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.640;DP=188;Dels=0.00;FS=1.165;HRun=0;HaplotypeScore=7.5173;MQ=59.13;MQ0=0;MQRankSum=-2.651;QD=10.65;ReadPosRankSum=-0.590;VQSLOD=2.7660;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,85:188:99:2032,0,2728 1 34329897 34329897 T C exonic HMGB4 synonymous SNV HMGB4:NM_145205:exon2:c.T105C:p.Y35Y 0.99 1. 0.99 1. 0.96 1. 0.9713 0.9913 0.9820 1 0.9675 0.9574 0.9679 0.9943 0.97 0.99 0.95 1. 0.84 rs911218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9706 0.9919 0.9813 0.9832 0.9999 0.9682 0.9530 0.9655 0.9939 0.9660 0.9891 0.9857 0.9834 1 0.9634 0.9484 0.9613 hom 5723.05 190 1 34329897 . T C 5723.05 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=59.09;MQ0=0;QD=30.12;VQSLOD=8.6338;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:5722,475,0 1 34663180 34663180 G A exonic C1orf94 synonymous SNV C1orf94:NM_001134734:exon2:c.G675A:p.R225R,C1orf94:NM_032884:exon2:c.G105A:p.R35R 0.12 0.13 0.11 0.058 0.16 0.099 0.1537 0.1535 0.1000 0.0532 0.1138 0.1918 0.1549 0.1061 0.18 0.16 0.2 0.054 0.26 rs3795412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1506 0.1511 0.1094 0.2192 0.0538 0.1135 0.1906 0.1668 0.1069 0.1549 0.1590 0.0907 0.2285 0.0568 0.1022 0.1787 0.1357 het 1864.91 107 1 34663180 . G A 1864.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.639;DP=107;Dels=0.00;FS=1.659;HRun=0;HaplotypeScore=2.7535;MQ=58.65;MQ0=0;MQRankSum=-0.068;QD=17.43;ReadPosRankSum=1.108;VQSLOD=5.1529;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,64:107:99:1895,0,1259 1 34663208 34663208 C G exonic C1orf94 nonsynonymous SNV C1orf94:NM_001134734:exon2:c.C703G:p.Q235E,C1orf94:NM_032884:exon2:c.C133G:p.Q45E 0.38 0.76 0.36 0.14 0.24 0.27 0.2847 0.6909 0.3119 0.1244 0.1583 0.2564 0.2489 0.2609 0.4 0.67 0.27 0.51 0.41 rs1382602 COSM5653452;COSM5653453 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.022 0.268 N 1 0.090 P -1.665 0.004 N 2.27 0.174 T 1.42 0.008 N 0.026 0.018 -0.986 0.336 T 0.000 0.000 T . . . -1.404 0.019 0.003 0.166 0.005 0.014 0.048 N c -1.175 -0.956 0.530 0.212 0.706 0.609 0 3.09 0.345 1.695 0.372 0.136 0.221 0.972 0.342 0.204 0.218 4.606 0.117 . . . 0.2756 0.7014 0.3098 0.2817 0.1242 0.1582 0.2581 0.2757 0.2582 0.3530 0.6934 0.2895 0.2848 0.1196 0.1427 0.2432 0.2200 het 1486.26 100 1 34663208 . C G 1486.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.420;DP=100;Dels=0.00;FS=4.984;HRun=1;HaplotypeScore=0.8321;MQ=59.40;MQ0=0;MQRankSum=-1.926;QD=14.86;ReadPosRankSum=-1.102;VQSLOD=4.0953;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,55:100:99:1516,0,1368 1 34663411 34663411 C G exonic C1orf94 nonsynonymous SNV C1orf94:NM_001134734:exon2:c.C906G:p.D302E,C1orf94:NM_032884:exon2:c.C336G:p.D112E 0.17 0.14 0.22 0.086 0.2 0.21 0.2021 0.1622 0.1971 0.0815 0.1379 0.2300 0.2053 0.2065 0.21 0.17 0.24 0.098 0.33 rs1414474 . . . . . . . . . . . . . 0.308 0.234 T 0.008 0.135 B 0.007 0.121 B 0.822 0.092 N 0.999 0.220 P 0.945 0.238 L 1.75 0.262 T -0.13 0.129 N 0.04 0.051 -0.995 0.314 T 0.000 0.000 T . . . 1.426 0.234 12.92 0.982 0.382 0.492 0.281 N c -0.542 -0.481 0.751 0.233 0.706 0.609 0 1.31 0.207 -0.105 0.108 -0.007 0.133 0.573 0.273 0.419 0.257 6.549 0.215 . . . 0.2007 0.1604 0.2037 0.2355 0.0791 0.1383 0.2319 0.2166 0.2040 0.1818 0.1682 0.1874 0.2417 0.0759 0.1247 0.2143 0.1622 het 1411.97 127 1 34663411 . C G 1411.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.233;DP=127;Dels=0.00;FS=0.675;HRun=0;HaplotypeScore=6.7259;MQ=59.52;MQ0=0;MQRankSum=-1.351;QD=11.12;ReadPosRankSum=0.174;VQSLOD=3.8699;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,52:127:99:1442,0,2122 1 35227008 35227011 TGTC - exonic GJB4 frameshift deletion GJB4:NM_153212:exon2:c.153_156del:p.V52Afs*54 . . . . . . 0.0336 0.0092 0.0152 0.0002 0.0539 0.0439 0.0333 0.0276 0.034 0.012 0.046 . . rs146812843 COSM5713027 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0328 0.0080 0.0145 0.0158 0.0001 0.0541 0.0454 0.0309 0.0270 0.0321 0.0077 0.0167 0.0167 0 0.0556 0.0432 0.0419 het 1761.34 77 1 35227007 . TTGTC T 1761.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.737;DP=77;FS=7.782;HRun=0;HaplotypeScore=376.5769;MQ=56.66;MQ0=0;MQRankSum=-0.161;QD=22.87;ReadPosRankSum=1.316;set=variant2 GT:AD:DP:GQ:PL 0/1:41,36:77:99:1800,0,3017 1 35250457 35250457 C T exonic GJB3 nonsynonymous SNV GJB3:NM_001005752:exon2:c.C94T:p.R32W,GJB3:NM_024009:exon2:c.C94T:p.R32W 0.013 0.0008 0.02 . 0.038 0.012 0.0242 0.0059 0.0062 0.0001 0.0543 0.0331 0.0211 0.0133 0.023 0.0082 0.031 0.022 0.049 rs1805063 . . Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000039325.4|RCV000288928.1 MedGen|MedGen CN169374|CN239435 . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 1.000 0.588 D 3.985 0.967 H -6.43 0.997 D -6.99 0.936 D 0.313 0.428 0.469 0.901 D 0.981 0.994 D . . . 5.898 0.809 27.5 0.999 0.981 0.846 0.434 D c 0.725 0.592 1.000 0.747 0.490 0.173 1 5.85 0.936 1.127 0.308 0.013 0.140 1.000 0.715 0.990 0.544 19.788 0.964 Connexin\x2c N-terminal . . 0.0237 0.0050 0.0073 0.0157 0.0001 0.0538 0.0327 0.0192 0.0129 0.0234 0.0045 0.0084 0.0132 0 0.0550 0.0300 0.0336 het 1561.85 119 1 35250457 . C T 1561.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.104;DP=119;Dels=0.00;FS=3.378;HRun=0;HaplotypeScore=5.1552;MQ=58.98;MQ0=0;MQRankSum=0.412;QD=13.12;ReadPosRankSum=-0.790;VQSLOD=4.5312;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,57:119:99:1592,0,1572 1 35259946 35259946 G A exonic GJA4 synonymous SNV GJA4:NM_002060:exon2:c.G132A:p.V44V 0.24 0.48 0.16 0.13 0.22 0.081 0.2044 0.4370 0.1002 0.1428 0.3100 0.2114 0.2081 0.0924 0.28 0.44 0.2 0.29 0.21 rs1764389 COSM146462 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1983 0.4416 0.1054 0.1857 0.1458 0.3106 0.2089 0.1921 0.0935 0.2780 0.4373 0.1041 0.2267 0.1323 0.3024 0.2074 0.2561 het 2181.73 233 1 35259946 . G A 2181.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.372;DP=233;Dels=0.00;FS=2.330;HRun=0;HaplotypeScore=7.9371;MQ=59.28;MQ0=0;MQRankSum=2.089;QD=9.36;ReadPosRankSum=-0.418;VQSLOD=3.5793;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:140,93:233:99:2212,0,3903 1 35259961 35259961 A G exonic GJA4 synonymous SNV GJA4:NM_002060:exon2:c.A147G:p.Q49Q 0.62 0.85 0.51 0.48 0.65 0.5 0.6175 0.8256 0.4546 0.4783 0.7136 0.6493 0.6399 0.5050 0.71 0.82 0.65 0.65 0.67 rs1764390 COSM3746944 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6087 0.8303 0.4665 0.6394 0.4742 0.7132 0.6444 0.6217 0.5114 0.6949 0.8361 0.4892 0.6667 0.4465 0.7023 0.6496 0.6926 het 2383.08 236 1 35259961 . A G 2383.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.321;DP=236;Dels=0.00;FS=0.493;HRun=0;HaplotypeScore=6.3038;MQ=59.29;MQ0=0;MQRankSum=-0.483;QD=10.10;ReadPosRankSum=0.447;VQSLOD=4.7418;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:143,93:236:99:2413,0,3737 1 35260769 35260769 C T exonic GJA4 nonsynonymous SNV GJA4:NM_002060:exon2:c.C955T:p.P319S 0.33 0.58 0.27 0.17 0.33 0.21 0.3134 0.5389 0.2376 0.1716 0.4314 0.3191 0.3103 0.2273 0.38 0.53 0.3 0.38 0.33 rs1764391 COSM4967511 9(soft_tissue);1(pancreas) . . . . . . . . . . . 0.802 0.031 T 0.0 0.026 B 0.0 0.013 B 0.088 0.024 N 1 0.090 P -0.585 0.023 N -4.25 0.971 D 0.34 0.038 N 0.025 0.007 -0.943 0.422 T 0.000 0.000 T . . . -0.871 0.037 0.030 0.540 0.049 0.036 0.087 N c -1.177 -1.057 0.086 0.160 0.646 0.450 0 0.013 0.134 -0.296 0.083 -0.202 0.102 0.000 0.063 0.176 0.212 5.862 0.179 . ENSG00000189280.3|ENSG00000189280.3 Artery_Tibial|Testis 0.3036 0.5394 0.2409 0.2909 0.1702 0.4285 0.3104 0.2989 0.2201 0.3873 0.5389 0.2566 0.3709 0.1553 0.4239 0.3240 0.3740 het 1257.12 113 1 35260769 . C T 1257.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.043;DP=113;Dels=0.00;FS=2.527;HRun=0;HaplotypeScore=2.7348;MQ=59.80;MQ0=0;MQRankSum=2.070;QD=11.12;ReadPosRankSum=-1.328;VQSLOD=5.4381;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,54:113:99:1287,0,1478 1 35562965 35562965 G A exonic ZMYM1 nonsynonymous SNV ZMYM1:NM_001289089:exon4:c.G217A:p.V73M,ZMYM1:NM_024772:exon4:c.G217A:p.V73M,ZMYM1:NM_001289088:exon5:c.G217A:p.V73M,ZMYM1:NM_001289090:exon5:c.G217A:p.V73M 0.83 0.8 0.74 0.74 0.92 0.93 0.8804 0.8185 0.7191 0.7640 0.8712 0.9257 0.8703 0.9124 0.89 0.83 0.93 0.81 0.96 rs2971408 COSM5426235 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.556 0.064 T 0.001 0.067 B 0.001 0.040 B 0.023 0.265 N 1 0.588 P -0.805 0.016 N 2.23 0.181 T 0.33 0.039 N 0.02 0.221 -1.052 0.139 T 0.000 0.000 T . . . 0.332 0.126 5.995 0.636 0.071 0.306 0.239 N c -1.186 -0.959 0.022 0.134 0.672 0.522 0 -0.077 0.130 0.069 0.143 -0.866 0.028 0.945 0.326 0.204 0.218 6.658 0.220 . ENSG00000197056.5|ENSG00000197056.5|ENSG00000197056.5 Artery_Tibial|Esophagus_Muscularis|Nerve_Tibial 0.8745 0.8200 0.7319 0.9014 0.7668 0.8690 0.9300 0.8794 0.9103 0.8741 0.8182 0.7661 0.8808 0.7553 0.8641 0.9260 0.8980 hom 4775.54 158 1 35562965 . G A 4775.54 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6014;MQ=59.25;MQ0=0;QD=30.22;VQSLOD=8.8230;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:4775,367,0 1 36202585 36202585 G A exonic CLSPN nonsynonymous SNV CLSPN:NM_001190481:exon23:c.C3647T:p.S1216L,CLSPN:NM_001330490:exon24:c.C3839T:p.S1280L,CLSPN:NM_022111:exon24:c.C3839T:p.S1280L 0.05 0.082 0.04 0.001 0.069 0.047 0.0563 0.0885 0.0352 0.0007 0.0411 0.0615 0.0551 0.0652 0.071 0.082 0.065 0.011 0.041 rs35490896 . . . . . . . . . . . . . 0.043 0.486 D 0.007 0.131 B 0.006 0.184 B 0.007 0.320 N 0.831 0.287 N 1.965 0.534 M 1.66 0.275 T -3.97 0.736 D 0.144 0.188 -1.108 0.033 T 0.004 0.014 T . . . 4.642 0.622 24.5 0.996 0.722 0.953 0.640 D c -0.112 0.064 0.653 0.222 0.732 0.924 0 4.27 0.498 3.431 0.523 0.135 0.219 1.000 0.715 0.999 0.750 12.711 0.563 . ENSG00000142686.7|ENSG00000142686.7 Lung|Muscle_Skeletal 0.0554 0.0888 0.0343 0.0879 0.0006 0.0464 0.0613 0.0567 0.0673 0.0613 0.0848 0.0453 0.0960 0.0006 0.0475 0.0586 0.0460 het 1875.13 132 1 36202585 . G A 1875.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.536;DP=132;Dels=0.00;FS=1.381;HRun=2;HaplotypeScore=3.8745;MQ=58.94;MQ0=0;MQRankSum=-0.440;QD=14.21;ReadPosRankSum=0.809;VQSLOD=5.6276;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,70:132:99:1905,0,1637 1 36203660 36203662 TTC - exonic CLSPN nonframeshift deletion CLSPN:NM_001190481:exon21:c.3403_3405del:p.E1135del,CLSPN:NM_001330490:exon22:c.3595_3597del:p.E1199del,CLSPN:NM_022111:exon22:c.3595_3597del:p.E1199del 0.028 0.0015 0.035 0.001 0.068 0.047 0.0490 0.0100 0.0315 0.0010 0.0411 0.0611 0.0540 0.0653 0.046 0.0098 0.065 . . rs200760879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0477 0.0083 0.0241 0.0823 0.0008 0.0442 0.0583 0.0500 0.0620 0.0363 0.0078 0.0370 0.0967 0.0006 0.0330 0.0562 0.0377 het 1227.55 92 1 36203659 . TTTC T 1227.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.574;DP=92;FS=2.438;HRun=0;HaplotypeScore=368.8009;MQ=54.88;MQ0=0;MQRankSum=-0.455;QD=13.34;ReadPosRankSum=-0.386;set=variant2 GT:AD:DP:GQ:PL 0/1:58,34:92:99:1267,0,2176 1 36225948 36225948 T C exonic CLSPN nonsynonymous SNV CLSPN:NM_001190481:exon8:c.A1574G:p.N525S,CLSPN:NM_001330490:exon8:c.A1574G:p.N525S,CLSPN:NM_022111:exon8:c.A1574G:p.N525S 0.45 0.67 0.43 0.74 0.14 0.2 0.2718 0.6133 0.4689 0.7944 0.1555 0.1370 0.2489 0.2278 0.29 0.59 0.13 0.41 0.066 rs7537203 COSM5425391;COSM5425390 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.015 0.524 D 0.999 0.764 D 0.994 0.807 D 0.000 0.843 D 0.015 0.402 P 2.71 0.795 M 1.62 0.301 T -2.27 0.529 N 0.07 0.077 -1.044 0.160 T 0.000 0.000 T . . . 4.773 0.640 24.7 0.999 0.956 0.883 0.478 D c 0.603 0.565 1.000 0.747 0.707 0.730 0 5.08 0.682 3.627 0.537 1.011 0.635 1.000 0.715 1.000 0.888 13.406 0.602 . ENSG00000142686.7|ENSG00000142686.7|ENSG00000142686.7|ENSG00000092850.7|ENSG00000116871.11 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Lung|Thyroid|Whole_Blood 0.2695 0.6240 0.4476 0.2228 0.7969 0.1657 0.1289 0.2245 0.2072 0.3161 0.6173 0.4294 0.2483 0.8027 0.1672 0.1281 0.1741 het 1013.45 75 1 36225948 . T C 1013.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.827;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;MQRankSum=-0.821;QD=13.51;ReadPosRankSum=-0.313;VQSLOD=6.8613;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,37:75:99:1043,0,981 1 36316571 36316571 A C exonic AGO4 synonymous SNV AGO4:NM_017629:exon17:c.A2394C:p.S798S 0.49 0.14 0.54 0.25 0.85 0.8 0.7157 0.2423 0.5244 0.1941 0.8376 0.8573 0.7517 0.7965 0.66 0.26 0.86 0.46 0.9 rs4652895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7161 0.2320 0.5435 0.7709 0.1910 0.8258 0.8637 0.7639 0.7979 0.6387 0.2431 0.5566 0.7450 0.1836 0.8226 0.8665 0.8078 het 748.43 72 1 36316571 . A C 748.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.970;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;MQRankSum=1.160;QD=10.39;ReadPosRankSum=-0.091;VQSLOD=6.6346;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,31:72:99:778,0,1123 1 36553673 36553673 A G exonic TEKT2 synonymous SNV TEKT2:NM_014466:exon10:c.A1179G:p.T393T 0.94 0.91 0.94 1. 0.91 0.94 0.9252 0.9205 0.9629 0.9992 0.9031 0.9140 0.9211 0.9170 0.92 0.92 0.92 0.8 0.94 rs399393 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9267 0.9163 0.9628 0.9040 0.9995 0.9030 0.9158 0.9273 0.9152 0.9254 0.9268 0.9475 0.8742 0.9994 0.9024 0.9223 0.9172 het 689.08 74 1 36553673 . A G 689.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.248;DP=74;Dels=0.00;FS=11.419;HRun=0;HaplotypeScore=0.8321;MQ=58.87;MQ0=0;MQRankSum=-0.941;QD=9.31;ReadPosRankSum=-0.152;VQSLOD=4.0214;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,29:74:99:719,0,1155 1 36642420 36642420 T C exonic MAP7D1 synonymous SNV MAP7D1:NM_001286365:exon7:c.T1245C:p.S415S,MAP7D1:NM_018067:exon8:c.T1356C:p.S452S,MAP7D1:NM_001286366:exon9:c.T1260C:p.S420S 0.75 0.89 0.78 0.91 0.58 0.55 0.6682 0.8440 0.8331 0.9305 0.6070 0.5929 0.6398 0.5931 0.66 0.82 0.58 0.72 0.14 rs475591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6476 0.8447 0.8071 0.5182 0.9261 0.5681 0.5696 0.6238 0.5780 0.6776 0.8380 0.7769 0.5133 0.9190 0.5818 0.5829 0.6027 het 128.80 14 1 36642420 . T C 128.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.406;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.54;MQ0=0;MQRankSum=0.545;QD=9.20;ReadPosRankSum=-1.276;VQSLOD=5.5494;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:159,0,204 1 36752433 36752433 C T exonic THRAP3 nonsynonymous SNV THRAP3:NM_001321473:exon4:c.C602T:p.A201V,THRAP3:NM_005119:exon4:c.C602T:p.A201V,THRAP3:NM_001321471:exon5:c.C602T:p.A201V 0.8 0.52 0.86 0.95 0.88 0.87 0.8625 0.5784 0.9248 0.9406 0.9173 0.8788 0.8590 0.8687 0.78 0.59 0.88 0.74 0.8 rs6425977 . . . . . . . . . . . . . 0.153 0.243 T 0.103 0.243 B 0.058 0.250 B 0.132 0.186 N 0.263 0.338 P 1.355 0.339 L 2.54 0.139 T -0.34 0.127 N 0.047 0.064 -1.020 0.238 T 0.000 0.000 T . . . 2.445 0.355 19.11 0.990 0.494 0.525 0.289 D c -0.394 -0.246 1.000 0.480 0.707 0.730 0 4.79 0.608 0.740 0.257 0.852 0.362 0.000 0.063 0.999 0.750 13.973 0.636 . ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.8691 0.5725 0.9218 0.8221 0.9373 0.9094 0.8793 0.8722 0.8689 0.8015 0.5772 0.9010 0.8113 0.9333 0.9050 0.8828 0.8783 het 2267.16 145 1 36752433 . C T 2267.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.701;DP=145;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0021;MQ=58.86;MQ0=0;MQRankSum=0.049;QD=15.64;ReadPosRankSum=-1.156;VQSLOD=5.6256;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,83:145:99:2297,0,1778 1 36807481 36807481 C T exonic STK40 nonsynonymous SNV STK40:NM_001282546:exon11:c.G1198A:p.A400T,STK40:NM_001282547:exon11:c.G1183A:p.A395T,STK40:NM_032017:exon12:c.G1183A:p.A395T 0.18 0.17 0.14 0.14 0.23 0.21 0.2128 0.1912 0.1185 0.1140 0.1963 0.2448 0.1944 0.2228 0.23 0.19 0.25 0.25 0.19 rs3795498 COSM3927627;COSM330293;COSM330292 1(haematopoietic_and_lymphoid_tissue);3(prostate);1(large_intestine) . . . . . . . . . . . 0.114 0.324 T 0.04 0.198 B 0.005 0.104 B 0.000 0.629 D 0.000 0.810 P 0.895 0.225 L -0.02 0.629 T -0.06 0.079 N 0.061 0.045 -1.106 0.034 T 0.000 0.000 T . . . 3.937 0.530 23.5 0.998 0.879 0.960 0.667 D c -0.102 0.112 1.000 0.747 0.707 0.730 0 5.11 0.691 5.743 0.681 0.919 0.430 1.000 0.715 0.979 0.486 17.506 0.876 . ENSG00000214193.5 Colon_Transverse 0.2074 0.1908 0.1288 0.1719 0.1162 0.1963 0.2490 0.2067 0.2227 0.2186 0.1975 0.1122 0.1821 0.1067 0.2064 0.2516 0.2331 het 803.29 70 1 36807481 . C T 803.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.925;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=59.67;MQ0=0;MQRankSum=-0.301;QD=11.48;ReadPosRankSum=0.808;VQSLOD=6.7424;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,32:70:99:833,0,1000 1 36887813 36887813 C A exonic OSCP1 nonsynonymous SNV OSCP1:NM_145047:exon7:c.G757T:p.V253L,OSCP1:NM_001330493:exon8:c.G787T:p.V263L 0.011 0.0015 0.04 . 0.022 0.0041 0.0211 0.0049 0.0477 0 0.0383 0.0243 0.0209 0.0038 0.014 0.0036 0.019 . . rs17442970 . . . . . . . . . . . . . 0.344 0.195 T 0.001 0.067 B 0.002 0.063 B 0.071 0.215 N 1.000 0.090 N 1.36 0.342 L 1.91 0.315 T -0.68 0.197 N 0.028 0.086 -1.051 0.141 T 0.024 0.102 T . . . 2.111 0.315 16.92 0.898 0.185 0.282 0.233 N c -0.850 -0.813 0.006 0.110 0.651 0.465 0 -0.414 0.117 0.910 0.280 -0.903 0.026 0.020 0.195 0.083 0.182 3.787 0.082 . . . 0.0210 0.0038 0.0440 0.0028 0 0.0372 0.0228 0.0226 0.0035 0.0179 0.0046 0.0382 0.0066 0 0.0392 0.0210 0.0285 het 1312.68 110 1 36887813 . C A 1312.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.128;DP=110;Dels=0.00;FS=2.905;HRun=1;HaplotypeScore=5.8699;MQ=58.78;MQ0=0;MQRankSum=0.253;QD=11.93;ReadPosRankSum=-0.854;VQSLOD=5.0867;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,49:110:99:1343,0,1428 1 36927733 36927733 G A exonic MRPS15 synonymous SNV MRPS15:NM_031280:exon3:c.C207T:p.P69P 0.98 0.99 0.98 1. 0.93 0.98 0.9479 0.9876 0.9795 0.9998 0.9076 0.9270 0.9460 0.9739 0.95 0.98 0.93 1. 0.96 rs7065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9488 0.9876 0.9784 0.9756 0.9998 0.9082 0.9256 0.9522 0.9732 0.9461 0.9874 0.9749 0.9702 1 0.9084 0.9241 0.9287 hom 2821.69 92 1 36927733 . G A 2821.69 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=58.98;MQ0=0;QD=30.67;VQSLOD=9.5115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2855,214,0 1 36937059 36937059 A G exonic CSF3R synonymous SNV CSF3R:NM_000760:exon10:c.T1260C:p.T420T,CSF3R:NM_156039:exon10:c.T1260C:p.T420T,CSF3R:NM_172313:exon10:c.T1260C:p.T420T 0.59 0.74 0.4 0.45 0.57 0.71 0.5648 0.7212 0.3853 0.4048 0.5994 0.5575 0.5662 0.6916 0.61 0.72 0.55 0.62 0.46 rs3917981 COSM1748391;COSM1748390 3(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(thyroid) Benign not_specified RCV000248446.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5542 0.7266 0.3953 0.5441 0.4069 0.6059 0.5552 0.5662 0.6843 0.5927 0.7304 0.4165 0.5397 0.4061 0.6111 0.5399 0.5809 het 2984.52 235 1 36937059 . A G 2984.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.102;DP=235;DS;Dels=0.00;FS=1.011;HRun=2;HaplotypeScore=6.4736;MQ=58.76;MQ0=0;MQRankSum=0.282;QD=12.70;ReadPosRankSum=2.312;VQSLOD=4.4357;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,109:235:99:3015,0,3461 1 36937065 36937065 A G exonic CSF3R synonymous SNV CSF3R:NM_000760:exon10:c.T1254C:p.R418R,CSF3R:NM_156039:exon10:c.T1254C:p.R418R,CSF3R:NM_172313:exon10:c.T1254C:p.R418R 0.25 0.17 0.2 0.13 0.34 0.41 0.3156 0.1959 0.2494 0.1025 0.3341 0.3478 0.3172 0.4114 0.3 0.2 0.35 0.23 0.32 rs3917980 COSM4143874;COSM4143873 1(thyroid) Benign not_specified RCV000243703.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3139 0.1971 0.2546 0.3551 0.0997 0.3424 0.3458 0.3243 0.4055 0.2815 0.2036 0.2404 0.3543 0.1168 0.3480 0.3277 0.3190 het 2946.95 231 1 36937065 . A G 2946.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.642;DP=231;DS;Dels=0.00;FS=5.512;HRun=3;HaplotypeScore=7.4694;MQ=58.37;MQ0=0;MQRankSum=0.346;QD=12.76;ReadPosRankSum=1.707;VQSLOD=3.9335;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,109:231:99:2977,0,3113 1 38019747 38019747 C T exonic SNIP1 synonymous SNV SNIP1:NM_024700:exon1:c.G84A:p.V28V 0.23 0.064 0.29 0.39 0.22 0.25 0.2183 0.0740 0.3541 0.3880 0.2284 0.1873 0.2037 0.2344 0.15 0.077 0.18 0.22 0.15 rs2273013 COSM1627042 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2229 0.0690 0.3448 0.1733 0.3861 0.2203 0.1850 0.2019 0.2280 0.1691 0.0662 0.3174 0.1689 0.3984 0.2183 0.1818 0.2094 het 764.45 57 1 38019747 . C T 764.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.667;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;MQRankSum=0.072;QD=13.41;ReadPosRankSum=0.217;VQSLOD=6.5311;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,25:57:99:794,0,1043 1 38023316 38023316 C T exonic DNALI1 nonsynonymous SNV DNALI1:NM_003462:exon2:c.C260T:p.A87V 0.2 0.068 0.2 0.35 0.25 0.19 0.2360 0.0944 0.2285 0.3683 0.1892 0.2501 0.2665 0.2210 0.2 0.097 0.26 0.17 0.22 rs11749 COSM4143883 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.08 0.335 T 0.749 0.413 P 0.492 0.456 P 0.002 0.385 N 0.000 0.810 P 0.49 0.133 N 0.97 0.425 T -0.63 0.185 N 0.197 0.241 -0.909 0.470 T 0.000 0.000 T . . . 4.910 0.660 25.0 0.998 0.896 0.928 0.563 D c 0.253 0.391 1.000 0.747 0.660 0.490 0 5.76 0.907 3.981 0.564 0.892 0.403 1.000 0.715 1.000 0.888 17.450 0.874 . ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163879.9|ENSG00000134697.8|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163879.9|ENSG00000232273.1|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Brain_Cerebellum|Brain_Cortex|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.2396 0.0882 0.2287 0.3261 0.3639 0.1899 0.2500 0.2636 0.2243 0.2007 0.0933 0.2428 0.3167 0.3644 0.1929 0.2434 0.1904 het 2641.16 248 1 38023316 . C T 2641.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.446;DP=248;DS;Dels=0.00;FS=3.032;HRun=0;HaplotypeScore=9.2660;MQ=59.06;MQ0=0;MQRankSum=0.515;QD=10.65;ReadPosRankSum=-2.748;VQSLOD=3.2466;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:141,107:248:99:2671,0,4284 1 38148765 38148765 A G exonic C1orf109 nonsynonymous SNV C1orf109:NM_001350755:exon5:c.T835C:p.Y279H,C1orf109:NM_001350756:exon5:c.T832C:p.Y278H,C1orf109:NM_001350760:exon5:c.T646C:p.Y216H,C1orf109:NM_001350761:exon5:c.T646C:p.Y216H,C1orf109:NM_001350764:exon5:c.T646C:p.Y216H,C1orf109:NM_001350762:exon7:c.T646C:p.Y216H,C1orf109:NM_001350763:exon7:c.T646C:p.Y216H 0.83 0.83 0.8 0.95 0.77 0.78 0.7846 0.8236 0.8128 0.9689 0.7629 0.7537 0.7395 0.7800 0.77 0.82 0.74 0.84 0.75 rs684260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7851 0.8226 0.8109 0.7163 0.9698 0.7631 0.7557 0.7694 0.7819 0.7938 0.8139 0.8067 0.7467 0.9698 0.7633 0.7707 0.7902 hom 2475.38 79 1 38148765 . A G 2475.38 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0979;MQ=58.04;MQ0=0;QD=31.33;VQSLOD=8.6867;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2508,196,0 1 38185647 38185647 G A exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon14:c.C2496T:p.F832F 0.056 0.057 0.048 0.028 0.11 0.034 0.0694 0.0706 0.0487 0.0149 0.0664 0.0887 0.0689 0.0348 0.086 0.066 0.096 0.065 0.082 rs2170809 COSM3746954 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0703 0.0676 0.0515 0.1091 0.0152 0.0637 0.0915 0.0863 0.0352 0.0715 0.0642 0.0692 0.1126 0.0154 0.0647 0.0828 0.0704 het 1974.79 160 1 38185647 . G A 1974.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.755;DP=160;Dels=0.00;FS=2.809;HRun=2;HaplotypeScore=1.6828;MQ=59.48;MQ0=0;MQRankSum=1.225;QD=12.34;ReadPosRankSum=-0.217;VQSLOD=5.9047;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,76:160:99:2005,0,2063 1 38185723 38185723 C T exonic EPHA10 nonsynonymous SNV EPHA10:NM_001099439:exon14:c.G2420A:p.R807Q 0.045 0.017 0.045 0.028 0.11 0.034 0.0660 0.0315 0.0464 0.0149 0.0666 0.0888 0.0705 0.0348 0.072 0.031 0.093 0.054 0.049 rs6670599 COSM4970363 1(central_nervous_system) . . . . . . . . . . . 0.001 0.784 D 0.985 0.592 D 0.566 0.479 P 0.004 0.338 N 0.005 0.810 P 0.36 0.120 N 0.02 0.623 T -1.55 0.375 N 0.237 0.296 -0.958 0.395 T 0.006 0.020 T . . . 7.169 0.944 34 0.999 0.999 0.601 0.308 D c 0.352 0.393 0.999 0.378 0.554 0.246 0 4.66 0.577 4.892 0.626 0.810 0.333 1.000 0.715 0.574 0.284 7.130 0.245 Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase\x2c catalytic domain ENSG00000183317.12|ENSG00000183317.12 Esophagus_Muscularis|Nerve_Tibial 0.0673 0.0290 0.0492 0.1091 0.0152 0.0637 0.0913 0.0842 0.0351 0.0618 0.0304 0.0658 0.1126 0.0148 0.0650 0.0827 0.0694 het 725.38 63 1 38185723 . C T 725.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.302;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9774;MQ=58.43;MQ0=0;MQRankSum=0.369;QD=11.51;ReadPosRankSum=1.562;VQSLOD=5.7857;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,27:63:99:755,0,860 1 38186206 38186206 C G exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon13:c.G2229C:p.V743V 0.045 0.017 0.045 0.028 0.11 0.034 0.0740 0.0366 0.0512 0.0169 0.0816 0.0988 0.0777 0.0381 0.073 0.034 0.093 0.054 0.049 rs12726343 COSM3746955 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0667 0.0291 0.0487 0.1085 0.0151 0.0634 0.0905 0.0840 0.0346 0.0621 0.0313 0.0680 0.1126 0.0154 0.0645 0.0826 0.0694 het 262.18 22 1 38186206 . C G 262.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.313;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.263;QD=11.92;ReadPosRankSum=0.525;VQSLOD=10.9069;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,11:22:99:292,0,293 1 38187447 38187447 A G exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon11:c.T2031C:p.H677H 0.19 0.3 0.16 0.029 0.26 0.14 0.2288 0.3355 0.1196 0.0164 0.2599 0.2710 0.2188 0.1805 0.27 0.29 0.26 0.23 0.26 rs579908 COSM3746956 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2143 0.3147 0.1171 0.2631 0.0151 0.2490 0.2608 0.2305 0.1758 0.2574 0.3128 0.1504 0.24 0.0166 0.2589 0.2587 0.2352 het 433.72 29 1 38187447 . A G 433.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.513;DP=29;Dels=0.00;FS=1.536;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=-0.504;QD=14.96;ReadPosRankSum=-1.688;VQSLOD=5.2368;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,16:29:99:464,0,358 1 38187453 38187453 G A exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon11:c.C2025T:p.A675A 0.045 0.017 0.045 0.028 0.11 0.034 0.0704 0.0360 0.0485 0.0152 0.0753 0.0943 0.0778 0.0375 0.073 0.032 0.092 0.054 0.074 rs33970734 COSM3746957 1(NS);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0657 0.0285 0.0476 0.1072 0.0144 0.0624 0.0894 0.0823 0.0344 0.0619 0.0303 0.0680 0.1126 0.0154 0.0648 0.0827 0.0694 het 342.22 24 1 38187453 . G A 342.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.144;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.761;QD=14.26;ReadPosRankSum=-1.126;VQSLOD=10.4648;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,12:24:99:372,0,330 1 38188740 38188740 C T exonic EPHA10 nonsynonymous SNV EPHA10:NM_001099439:exon10:c.G1933A:p.V645I 0.045 0.017 0.048 0.028 0.11 0.034 0.0667 0.0314 0.0536 0.0150 0.0667 0.0888 0.0702 0.0349 0.073 0.032 0.094 0.022 0.074 rs12405650 COSM3746958 1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.920 0.075 N 0.986 0.247 P -0.12 0.045 N 0.1 0.614 T 0.23 0.046 N 0.053 0.256 -1.035 0.189 T 0.003 0.008 T . . . 0.523 0.144 7.602 0.127 0.002 0.296 0.236 N c -0.895 -0.769 1.000 0.427 0.554 0.246 0 2.02 0.255 1.483 0.349 -0.076 0.119 0.896 0.311 0.692 0.307 4.976 0.134 Protein kinase domain|Protein kinase-like domain|Tyrosine-protein kinase\x2c catalytic domain ENSG00000183317.12|ENSG00000183317.12 Esophagus_Muscularis|Nerve_Tibial 0.0684 0.0288 0.0554 0.1089 0.0153 0.0635 0.0917 0.0849 0.0352 0.0618 0.0303 0.0718 0.1126 0.0155 0.0647 0.0825 0.0694 het 1459.44 118 1 38188740 . C T 1459.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.091;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7985;MQ=58.92;MQ0=0;MQRankSum=-0.227;QD=12.37;ReadPosRankSum=-0.378;VQSLOD=6.2013;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,55:118:99:1489,0,1605 1 38188768 38188768 C T exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon10:c.G1905A:p.L635L 0.045 0.017 0.045 0.028 0.11 0.034 0.0659 0.0312 0.0461 0.0148 0.0666 0.0886 0.0702 0.0348 0.073 0.032 0.093 0.054 0.082 rs17464871 COSM3746959 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0674 0.0289 0.0492 0.1090 0.0152 0.0635 0.0914 0.0842 0.0352 0.0617 0.0304 0.0658 0.1126 0.0154 0.0647 0.0826 0.0692 het 1298.21 113 1 38188768 . C T 1298.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.228;DP=113;Dels=0.00;FS=2.446;HRun=0;HaplotypeScore=1.5362;MQ=58.97;MQ0=0;MQRankSum=0.009;QD=11.49;ReadPosRankSum=1.024;VQSLOD=6.5223;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,51:113:99:1328,0,1829 1 38188787 38188787 A G exonic EPHA10 nonsynonymous SNV EPHA10:NM_001099439:exon10:c.T1886C:p.L629P 0.045 0.017 0.045 0.028 0.11 0.034 0.0660 0.0313 0.0460 0.0149 0.0665 0.0888 0.0702 0.0349 0.073 0.032 0.093 0.054 0.082 rs17511304 COSM3746960 1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.344 N 0.000 0.497 P -2.34 0.001 N 5.12 0.013 T 8.39 0.000 N 0.062 0.417 -0.993 0.319 T 0.000 0.000 T . . . 0.379 0.131 6.430 0.060 0.000 0.057 0.115 N c -1.114 -0.834 1.000 0.517 0.615 0.372 0 4.36 0.515 4.528 0.601 0.041 0.156 1.000 0.715 0.991 0.552 11.505 0.495 Ephrin receptor\x2c transmembrane domain ENSG00000183317.12|ENSG00000183317.12 Esophagus_Muscularis|Nerve_Tibial 0.0674 0.0289 0.0491 0.1089 0.0152 0.0635 0.0915 0.0841 0.0351 0.0618 0.0304 0.0680 0.1067 0.0154 0.0647 0.0828 0.0692 het 1298.77 108 1 38188787 . A G 1298.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.831;DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6006;MQ=58.69;MQ0=0;MQRankSum=-1.637;QD=12.03;ReadPosRankSum=-0.486;VQSLOD=5.4280;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,51:108:99:1329,0,1523 1 38227086 38227086 A T exonic EPHA10 nonsynonymous SNV EPHA10:NM_001099439:exon3:c.T841A:p.F281I,EPHA10:NM_173641:exon3:c.T841A:p.F281I 0.35 0.44 0.3 0.48 0.28 0.21 0.3015 0.4065 0.3051 0.4424 0.3687 0.2872 0.2494 0.1957 0.31 0.4 0.27 0.35 0.27 rs4653328 COSM3749052 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.554 0.089 T 0.0 0.102 B 0.0 0.040 B 0.889 0.087 N 1.000 0.195 P -1.245 0.008 N -4.32 0.972 D 0.94 0.015 N 0.047 0.028 -1.011 0.265 T 0.000 0.000 T . . . -0.010 0.093 2.492 0.861 0.158 0.024 0.068 N c -1.459 -1.365 0.000 0.029 0.497 0.185 0 -1.55 0.081 -1.192 0.031 -0.222 0.097 0.000 0.063 0.257 0.229 3.998 0.090 . ENSG00000204084.8|ENSG00000230955.1|ENSG00000204084.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Skin_Sun_Exposed_Lower_leg 0.2983 0.4106 0.3093 0.1174 0.4450 0.3751 0.2944 0.2719 0.1948 0.3512 0.4168 0.3113 0.1026 0.4557 0.3707 0.3061 0.3248 het 1669.11 116 1 38227086 . A T 1669.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.307;DP=116;DS;Dels=0.00;FS=4.615;HRun=0;HaplotypeScore=3.2726;MQ=58.43;MQ0=0;MQRankSum=-0.857;QD=14.39;ReadPosRankSum=-1.128;VQSLOD=4.7241;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,61:116:99:1699,0,1510 1 38289383 38289383 T C exonic MTF1 synonymous SNV MTF1:NM_005955:exon8:c.A1170G:p.T390T 0.21 0.063 0.21 0.26 0.28 0.28 0.2655 0.1032 0.2034 0.2772 0.3871 0.2892 0.2875 0.2590 0.23 0.1 0.29 0.2 0.3 rs12751325 COSM3746961 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2692 0.0989 0.2027 0.3137 0.2766 0.3824 0.2902 0.2664 0.2509 0.2578 0.0958 0.2026 0.3146 0.2679 0.4011 0.3156 0.3184 hom 1506.88 50 1 38289383 . T C 1506.88 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.14;VQSLOD=14.2023;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1540,117,0 1 38338795 38338795 A G exonic INPP5B nonsynonymous SNV INPP5B:NM_001297434:exon13:c.T1502C:p.M501T,INPP5B:NM_001350227:exon13:c.T1334C:p.M445T,INPP5B:NM_001350228:exon16:c.T1334C:p.M445T,INPP5B:NM_005540:exon19:c.T1994C:p.M665T 0.52 0.3 0.6 0.48 0.73 0.62 0.6401 0.3607 0.5557 0.4994 0.7880 0.7114 0.6233 0.5920 0.6 0.38 0.7 0.5 0.76 rs11488569 COSM4417137 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.879 0.033 T 0.0 0.026 B 0.0 0.013 B 0.944 0.083 N 1 0.090 P -1.13 0.009 N -3.09 0.926 D 2.35 0.003 N 0.033 0.013 -0.950 0.410 T 0.000 0.000 T . . . -0.327 0.066 0.577 0.434 0.032 0.031 0.080 N c -1.207 -0.979 0.000 0.060 0.707 0.730 0 2.59 0.300 2.062 0.408 -0.278 0.085 0.990 0.367 0.925 0.399 5.429 0.156 Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase ENSG00000183431.7|ENSG00000197982.12|ENSG00000183386.5|ENSG00000183386.5|ENSG00000204084.8|ENSG00000183431.7|ENSG00000183386.5|ENSG00000230955.1|ENSG00000183431.7|ENSG00000183431.7|ENSG00000183386.5|ENSG00000230955.1|ENSG00000183431.7|ENSG00000183386.5|ENSG00000204084.8|ENSG00000183431.7|ENSG00000183386.5|ENSG00000204084.8|ENSG00000230955.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6440 0.3529 0.5677 0.6633 0.4981 0.7836 0.7136 0.6404 0.5943 0.6016 0.3554 0.5549 0.6556 0.5025 0.7838 0.7090 0.6830 hom 5717.36 199 1 38338795 . A G 5717.36 Mask AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9090;MQ=59.09;MQ0=0;QD=28.73;VQSLOD=8.3976;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,199:199:99:5716,451,0 1 38411445 38411445 G A exonic INPP5B synonymous SNV INPP5B:NM_005540:exon3:c.C135T:p.H45H 0.2 0.043 0.23 0.24 0.32 0.24 0.2858 0.0856 0.2239 0.2332 0.44 0.3318 0.2775 0.2280 0.23 0.085 0.31 0.17 0.26 rs871524 COSM3751175;COSM3751176 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2867 0.0795 0.2303 0.2913 0.2324 0.4350 0.3287 0.2737 0.2233 0.2772 0.0760 0.2261 0.2848 0.2146 0.4332 0.3615 0.3696 hom 4424.78 147 1 38411445 . G A 4424.78 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.10;VQSLOD=12.8080;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4424,349,0 1 39340282 39340282 C T exonic GJA9 nonsynonymous SNV GJA9:NM_030772:exon2:c.G1489A:p.V497I 0.31 0.15 0.48 0.27 0.45 0.31 0.3937 0.1790 0.4932 0.2775 0.4142 0.4416 0.3844 0.3185 0.36 0.19 0.46 0.26 0.39 rs880303 COSM5426246 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.494 0.079 T 0.0 0.026 B 0.0 0.013 B 0.001 0.006 N 1 0.090 P 0 0.065 N -4.36 0.973 D -0.05 0.078 N 0.022 0.007 -0.878 0.499 T 0.000 0.000 T . . . -0.332 0.066 0.560 0.742 0.102 0.055 0.113 N c -1.517 -1.564 1.000 0.747 0.370 0.049 0 -4.7 0.030 0.364 0.199 -0.892 0.027 0.000 0.063 0.076 0.179 1.938 0.031 . ENSG00000158315.6 Esophagus_Mucosa 0.4043 0.1710 0.4859 0.4814 0.2812 0.4115 0.4438 0.4351 0.3214 0.3596 0.1770 0.4797 0.4636 0.2910 0.4095 0.4497 0.4070 het 1777.29 155 1 39340282 . C T 1777.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.213;DP=155;Dels=0.00;FS=4.883;HRun=0;HaplotypeScore=4.9333;MQ=57.89;MQ0=0;MQRankSum=1.443;QD=11.47;ReadPosRankSum=0.690;VQSLOD=4.6689;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,71:155:99:1807,0,1936 1 39340607 39340607 A G exonic GJA9 synonymous SNV GJA9:NM_030772:exon2:c.T1164C:p.R388R 0.054 0.018 0.05 0.082 0.071 0.058 0.0840 0.0365 0.0434 0.0820 0.0555 0.1047 0.0850 0.0708 0.08 0.039 0.1 0.043 0.098 rs16825625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0810 0.0350 0.0441 0.1230 0.0803 0.0542 0.1024 0.0894 0.0713 0.0755 0.0324 0.0564 0.1457 0.0698 0.0619 0.1039 0.0764 het 1252.39 125 1 39340607 . A G 1252.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.026;DP=125;Dels=0.00;FS=0.673;HRun=0;HaplotypeScore=0.8941;MQ=59.82;MQ0=0;MQRankSum=-1.380;QD=10.02;ReadPosRankSum=0.555;VQSLOD=5.6480;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,55:125:99:1282,0,1751 1 39352271 39352271 G T exonic RHBDL2 nonsynonymous SNV RHBDL2:NM_001304746:exon8:c.C1057A:p.L353M,RHBDL2:NM_017821:exon8:c.C817A:p.L273M 0.31 0.15 0.48 0.27 0.45 0.31 0.3937 0.1795 0.4934 0.2776 0.4139 0.4415 0.3844 0.3184 0.36 0.19 0.46 0.26 0.41 rs2147914 COSM5425531;COSM5425532 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.21 0.196 T 0.994 0.647 D 0.854 0.591 P 0.000 0.629 D 0.002 0.442 P 2.25 0.640 M 1.41 0.334 T 0.14 0.054 N 0.214 0.271 -0.847 0.522 T 0.000 0.000 T . . . 4.315 0.578 24.0 0.994 0.648 0.866 0.456 D c 0.574 0.619 0.938 0.273 0.554 0.283 0 6.03 0.978 2.816 0.475 1.048 0.713 1.000 0.715 0.996 0.625 10.462 0.436 . ENSG00000158315.6 Esophagus_Mucosa 0.4025 0.1701 0.4825 0.4807 0.2792 0.4111 0.4430 0.4320 0.3179 0.3591 0.1769 0.4809 0.4636 0.2884 0.4094 0.4490 0.4061 het 2681.63 236 1 39352271 . G T 2681.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.972;DP=236;Dels=0.00;FS=4.611;HRun=0;HaplotypeScore=5.6101;MQ=58.76;MQ0=0;MQRankSum=2.653;QD=11.36;ReadPosRankSum=-0.324;VQSLOD=4.1483;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:132,104:236:99:2712,0,3805 1 39748921 39748921 G A exonic MACF1 synonymous SNV MACF1:NM_012090:exon7:c.G771A:p.Q257Q 0.59 0.27 0.67 0.65 0.72 0.8 0.6818 0.3383 0.7069 0.6356 0.7455 0.7035 0.6998 0.7906 0.58 0.35 0.69 0.48 0.66 rs2275188 COSM3751179;COSM3751180 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6865 0.3349 0.7040 0.6871 0.6333 0.7417 0.6988 0.6996 0.7851 0.5995 0.3402 0.7045 0.6821 0.6146 0.7473 0.7007 0.6892 hom 2917.79 99 1 39748921 . G A 2917.79 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=58.10;MQ0=0;QD=29.47;VQSLOD=8.1120;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2951,226,0 1 39957913 39957913 A G exonic BMP8A nonsynonymous SNV BMP8A:NM_181809:exon1:c.A250G:p.M84V 0.67 0.29 0.81 0.68 0.89 0.86 0.8538 0.4502 0.8445 0.6773 0.8837 0.9070 0.8620 0.8864 0.79 0.52 0.92 0.35 0.4 rs4660269 COSM3746962 1(liver);2(thyroid) . . . . . . . . . . . 0.163 0.234 T 0.008 0.135 B 0.021 0.181 B 0.000 0.629 U 0.016 0.401 P 2.155 0.604 M -0.1 0.643 T -1.86 0.435 N 0.095 0.095 -1.003 0.292 T 0.000 0.000 T . . . 1.127 0.202 11.36 0.960 0.277 0.625 0.315 D c -0.359 -0.245 1.000 0.747 0.598 0.340 0 3.32 0.370 0.929 0.282 0.895 0.411 1.000 0.715 0.923 0.397 7.876 0.286 Transforming growth factor-beta\x2c N-terminal ENSG00000198754.5|ENSG00000198754.5|ENSG00000183682.7 Artery_Tibial|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage 0.8504 0.3795 0.8307 0.9315 0.6590 0.8775 0.9024 0.8603 0.8825 0.7361 0.3715 0.8267 0.9448 0.6320 0.8740 0.9106 0.8573 hom 328.60 14 1 39957913 . A G 328.60 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.21;MQ0=0;QD=23.47;VQSLOD=6.8130;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:30.08:362,30,0 1 40098328 40098328 T C exonic HEYL nonsynonymous SNV HEYL:NM_014571:exon2:c.A140G:p.H47R 0.99 1. 0.99 1. 0.99 0.96 0.9887 0.9981 0.9969 0.9999 0.9979 0.9894 0.9912 0.9646 0.99 1. 0.99 1. 0.92 rs784625 COSM4143924 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.197 P -2.73 0.000 N -4.55 0.978 D 4.54 0.000 N 0.046 0.290 -0.915 0.462 T 0.000 0.000 T . . . 0.757 0.166 9.194 0.905 0.192 0.014 0.046 N c -0.907 -0.570 1.000 0.747 0.635 0.417 0 4.16 0.480 5.048 0.638 0.022 0.145 1.000 0.715 0.997 0.653 8.261 0.308 Myc-type\x2c basic helix-loop-helix (bHLH) domain . . 0.9889 0.9986 0.9961 0.9623 0.9998 0.9978 0.9909 0.9905 0.9647 0.9951 0.9987 0.9928 0.9636 1 0.9969 0.9929 0.9939 hom 7565.31 245 1 40098328 . T C 7565.31 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2090;MQ=59.58;MQ0=0;QD=30.88;VQSLOD=5.6540;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,244:245:99:7564,611,0 1 40129066 40129066 G A exonic NT5C1A synonymous SNV NT5C1A:NM_032526:exon4:c.C474T:p.S158S 0.041 0.003 0.022 0.11 0.044 0.032 0.0428 0.0086 0.0335 0.1144 0.0556 0.0422 0.0332 0.0311 0.031 0.011 0.042 0.033 0.033 rs4660340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0436 0.0074 0.0365 0.0216 0.1133 0.0547 0.0438 0.0366 0.0302 0.0372 0.0082 0.0394 0.0066 0.1197 0.0516 0.0421 0.0418 het 695.97 54 1 40129066 . G A 695.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.584;DP=54;Dels=0.00;FS=4.861;HRun=0;HaplotypeScore=3.8046;MQ=59.31;MQ0=0;MQRankSum=-0.121;QD=12.89;ReadPosRankSum=0.052;VQSLOD=4.7553;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,27:54:99:726,0,778 1 40149642 40149642 G T exonic HPCAL4 synonymous SNV HPCAL4:NM_016257:exon3:c.C345A:p.R115R,HPCAL4:NM_001282396:exon4:c.C345A:p.R115R 0.86 0.92 0.83 0.82 0.82 0.87 0.8273 0.8829 0.8376 0.7934 0.8243 0.8091 0.8532 0.8760 0.83 0.88 0.81 0.76 0.86 rs784634 COSM426246 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8272 0.8834 0.8378 0.8673 0.7928 0.8333 0.8022 0.8255 0.8799 0.8337 0.8773 0.8425 0.9272 0.7978 0.8239 0.8117 0.8415 hom 3541.12 111 1 40149642 . G T 3541.12 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=58.42;MQ0=0;QD=31.90;VQSLOD=8.9059;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3541,286,0 1 40150156 40150156 G A exonic HPCAL4 synonymous SNV HPCAL4:NM_001282397:exon2:c.C120T:p.S40S,HPCAL4:NM_016257:exon2:c.C120T:p.S40S,HPCAL4:NM_001282396:exon3:c.C120T:p.S40S 0.36 0.48 0.24 0.27 0.35 0.36 0.3393 0.4630 0.2150 0.2844 0.3639 0.3310 0.3470 0.4014 0.37 0.46 0.33 0.3 0.47 rs9662128 COSM146475 1(stomach);2(liver);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3283 0.4640 0.2200 0.3011 0.2715 0.3594 0.3308 0.3239 0.3884 0.3668 0.4653 0.2338 0.2351 0.2809 0.3533 0.3334 0.3487 het 817.88 69 1 40150156 . G A 817.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.870;DP=69;Dels=0.00;FS=0.993;HRun=0;HaplotypeScore=0.9989;MQ=59.30;MQ0=0;MQRankSum=0.030;QD=11.85;ReadPosRankSum=2.316;VQSLOD=5.9974;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,32:69:99:848,0,960 1 40349131 40349131 G A exonic TRIT1 synonymous SNV TRIT1:NM_001312691:exon1:c.C33T:p.P11P,TRIT1:NM_001312692:exon1:c.C33T:p.P11P,TRIT1:NM_017646:exon1:c.C33T:p.P11P 0.51 0.62 0.41 0.59 0.39 0.46 0.4452 0.5760 0.4893 0.5952 0.4184 0.3994 0.4233 0.4498 0.45 0.57 0.39 0.42 0.37 rs3845570 COSM5827897;COSM426251 1(upper_aerodigestive_tract);2(large_intestine) Benign not_specified RCV000441470.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4409 0.5817 0.4718 0.4645 0.5971 0.4044 0.3923 0.4101 0.4480 0.4564 0.5748 0.4713 0.4633 0.5800 0.4110 0.3861 0.4226 het 548.30 43 1 40349131 . G A 548.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.547;DP=43;Dels=0.00;FS=6.684;HRun=0;HaplotypeScore=1.6828;MQ=58.92;MQ0=0;MQRankSum=-0.547;QD=12.75;ReadPosRankSum=-0.328;VQSLOD=4.8603;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,21:43:99:578,0,580 1 40363054 40363054 G C exonic MYCL nonsynonymous SNV MYCL:NM_001033081:exon2:c.C1085G:p.T362S,MYCL:NM_001033082:exon3:c.C1175G:p.T392S 0.94 1. 0.9 1. 0.89 0.86 0.8865 0.9776 0.8654 0.9994 0.8916 0.8718 0.8756 0.8384 0.9 0.97 0.87 0.97 0.9 rs3134614 COSM3927628 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -0.77 0.017 N -0.9 0.773 T 0.17 0.051 N 0.057 0.048 -0.955 0.401 T 0.000 0.000 T . . . 0.145 0.108 4.091 0.818 0.134 0.109 0.161 N c -0.624 -0.369 1.000 0.747 0.646 0.442 0 4.53 0.548 2.284 0.429 0.012 0.140 1.000 0.715 0.999 0.750 5.637 0.167 . ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8842 0.9772 0.8712 0.8575 0.9992 0.8938 0.8729 0.8914 0.8263 0.9116 0.9750 0.8568 0.8477 0.9975 0.8808 0.8796 0.8707 hom 5269.01 172 1 40363054 . G C 5269.01 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2337;MQ=59.57;MQ0=0;QD=30.63;VQSLOD=8.7628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5268,400,0 1 40533266 40533266 T G exonic CAP1 nonsynonymous SNV CAP1:NM_001105530:exon8:c.T685G:p.C229G,CAP1:NM_001330502:exon8:c.T682G:p.C228G,CAP1:NM_001350476:exon8:c.T685G:p.C229G,CAP1:NM_001350477:exon8:c.T685G:p.C229G,CAP1:NM_001350479:exon8:c.T685G:p.C229G,CAP1:NM_001350480:exon8:c.T685G:p.C229G,CAP1:NM_001350481:exon8:c.T685G:p.C229G,CAP1:NM_001350482:exon8:c.T682G:p.C228G,CAP1:NM_001350483:exon8:c.T682G:p.C228G,CAP1:NM_001350485:exon8:c.T682G:p.C228G,CAP1:NM_006367:exon8:c.T685G:p.C229G,CAP1:NM_001350475:exon9:c.T685G:p.C229G,CAP1:NM_001350478:exon9:c.T685G:p.C229G,CAP1:NM_001350484:exon9:c.T682G:p.C228G 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.89 rs11207440 COSM4591832 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.664 0.052 T 0.0 0.026 B 0.0 0.013 B 0.005 0.333 N 1.000 0.207 P -1.795 0.003 N 2.85 0.207 T -0.01 0.072 N 0.384 0.444 -0.960 0.392 T 0.000 0.000 T . . . 1.865 0.285 15.37 0.850 0.151 0.270 0.229 N c -0.757 -0.496 1.000 0.747 0.707 0.730 0 4.56 0.555 1.555 0.357 0.136 0.221 0.873 0.306 0.973 0.468 12.227 0.536 Adenylate cyclase-associated CAP\x2c N-terminal . . 1 1 1 1 1 1 1 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 1881.72 60 1 40533266 . T G 1881.72 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3990;MQ=52.31;MQ0=0;QD=31.36;VQSLOD=4.3219;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1915,156,0 1 40533287 40533287 T G exonic CAP1 nonsynonymous SNV CAP1:NM_001105530:exon8:c.T706G:p.C236G,CAP1:NM_001330502:exon8:c.T703G:p.C235G,CAP1:NM_001350476:exon8:c.T706G:p.C236G,CAP1:NM_001350477:exon8:c.T706G:p.C236G,CAP1:NM_001350479:exon8:c.T706G:p.C236G,CAP1:NM_001350480:exon8:c.T706G:p.C236G,CAP1:NM_001350481:exon8:c.T706G:p.C236G,CAP1:NM_001350482:exon8:c.T703G:p.C235G,CAP1:NM_001350483:exon8:c.T703G:p.C235G,CAP1:NM_001350485:exon8:c.T703G:p.C235G,CAP1:NM_006367:exon8:c.T706G:p.C236G,CAP1:NM_001350475:exon9:c.T706G:p.C236G,CAP1:NM_001350478:exon9:c.T706G:p.C236G,CAP1:NM_001350484:exon9:c.T703G:p.C235G 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.85 rs6665926 COSM4591839 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.279 0.163 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.182 P -1.98 0.002 N 1.62 0.282 T 3.78 0.008 N 0.32 0.400 -0.938 0.430 T 0.000 0.000 T . . . 1.424 0.234 12.91 0.807 0.129 0.150 0.185 N c -0.746 -0.480 1.000 0.500 0.707 0.730 0 4.88 0.630 4.552 0.602 0.136 0.221 1.000 0.715 0.263 0.230 12.535 0.553 Adenylate cyclase-associated CAP\x2c N-terminal . . 1.0000 1 1 0.9999 0.9999 1 1.0000 1 1.0000 1.0000 1 1 1 1 1 0.9999 1 hom 1190.87 40 1 40533287 . T G 1190.87 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9916;MQ=46.85;MQ0=0;QD=29.77;VQSLOD=2.9904;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1224,105,0 1 40533326 40533326 T G exonic CAP1 nonsynonymous SNV CAP1:NM_001105530:exon8:c.T745G:p.Y249D,CAP1:NM_001330502:exon8:c.T742G:p.Y248D,CAP1:NM_001350476:exon8:c.T745G:p.Y249D,CAP1:NM_001350477:exon8:c.T745G:p.Y249D,CAP1:NM_001350479:exon8:c.T745G:p.Y249D,CAP1:NM_001350480:exon8:c.T745G:p.Y249D,CAP1:NM_001350481:exon8:c.T745G:p.Y249D,CAP1:NM_001350482:exon8:c.T742G:p.Y248D,CAP1:NM_001350483:exon8:c.T742G:p.Y248D,CAP1:NM_001350485:exon8:c.T742G:p.Y248D,CAP1:NM_006367:exon8:c.T745G:p.Y249D,CAP1:NM_001350475:exon9:c.T745G:p.Y249D,CAP1:NM_001350478:exon9:c.T745G:p.Y249D,CAP1:NM_001350484:exon9:c.T742G:p.Y248D 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.97 rs6665937 COSM4591850 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.777 0.033 T 0.0 0.026 B 0.0 0.013 B 0.000 0.504 N 1.000 0.189 P -2.69 0.000 N 2.8 0.111 T 3.55 0.001 N 0.249 0.397 -0.959 0.393 T 0.000 0.000 T . . . 1.005 0.190 10.69 0.489 0.041 0.115 0.165 N c -0.829 -0.576 1.000 0.747 0.707 0.730 0 4.88 0.630 4.954 0.631 0.136 0.221 1.000 0.715 0.090 0.185 12.535 0.553 Adenylate cyclase-associated CAP\x2c N-terminal . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1336.06 42 1 40533326 . T G 1336.06 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=39.97;MQ0=0;QD=31.81;VQSLOD=2.3179;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1369,123,0 1 40533347 40533347 T G exonic CAP1 nonsynonymous SNV CAP1:NM_001105530:exon8:c.T766G:p.S256A,CAP1:NM_001330502:exon8:c.T763G:p.S255A,CAP1:NM_001350476:exon8:c.T766G:p.S256A,CAP1:NM_001350477:exon8:c.T766G:p.S256A,CAP1:NM_001350479:exon8:c.T766G:p.S256A,CAP1:NM_001350480:exon8:c.T766G:p.S256A,CAP1:NM_001350481:exon8:c.T766G:p.S256A,CAP1:NM_001350482:exon8:c.T763G:p.S255A,CAP1:NM_001350483:exon8:c.T763G:p.S255A,CAP1:NM_001350485:exon8:c.T763G:p.S255A,CAP1:NM_006367:exon8:c.T766G:p.S256A,CAP1:NM_001350475:exon9:c.T766G:p.S256A,CAP1:NM_001350478:exon9:c.T766G:p.S256A,CAP1:NM_001350484:exon9:c.T763G:p.S255A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.98 rs6665944 COSM4591858 23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.001 0.428 N 1 0.090 P -2.53 0.001 N 3.07 0.663 T 2.31 0.003 N 0.283 0.353 -0.953 0.405 T 0.000 0.000 T . . . 1.056 0.195 10.97 0.310 0.017 0.152 0.186 N c -0.805 -0.489 1.000 0.747 0.707 0.730 0 4.88 0.630 4.929 0.629 0.136 0.221 1.000 0.715 0.997 0.653 8.352 0.313 Adenylate cyclase-associated CAP\x2c N-terminal . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 1496.28 45 1 40533347 . T G 1496.28 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=45.14;MQ0=0;QD=33.25;VQSLOD=3.6114;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1529,132,0 1 40535490 40535490 - G exonic CAP1 frameshift insertion CAP1:NM_001105530:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001330502:exon9:c.935dupG:p.A313Sfs*9,CAP1:NM_001350476:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350477:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350479:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350480:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350481:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350482:exon9:c.935dupG:p.A313Sfs*9,CAP1:NM_001350483:exon9:c.935dupG:p.A313Sfs*9,CAP1:NM_001350485:exon9:c.935dupG:p.A313Sfs*9,CAP1:NM_006367:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350475:exon10:c.938dupG:p.A314Sfs*9,CAP1:NM_001350478:exon10:c.938dupG:p.A314Sfs*9,CAP1:NM_001350484:exon10:c.935dupG:p.A313Sfs*9 . . . . . . 0.0040 0.0079 0.0266 0.0108 0.0085 0.0022 0.0112 0.0045 . . . . . rs370362556 COSM5943154 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 838.24 131 1 40535490 . C CG 838.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.346;DP=131;DS;FS=125.979;HRun=1;HaplotypeScore=683.9167;MQ=60.22;MQ0=0;MQRankSum=0.990;QD=6.40;ReadPosRankSum=-4.512;set=variant2 GT:AD:DP:GQ:PL 0/1:57,74:131:99:877,0,1276 1 40562894 40562894 C A exonic PPT1 nonsynonymous SNV PPT1:NM_000310:exon1:c.G17T:p.C6F,PPT1:NM_001142604:exon1:c.G17T:p.C6F . . . . . . 8.381e-06 0 0 0 0 1.528e-05 0 0 . . . . . rs202241486 . . . . . . . . . . . . . 0.364 0.400 T 0.0 0.026 B 0.0 0.013 B 0.132 0.028 N 1 0.090 N 0.435 0.127 N -3.97 0.962 D -0.08 0.743 N 0.107 0.222 -0.040 0.814 T 0.711 0.901 D 0.051 0.647 D -0.996 0.032 0.016 0.750 0.106 0.049 0.105 N c -1.748 -1.886 1.0 0.983 0.442 0.072 0 -8.87 0.007 -2.251 0.013 -1.139 0.017 0.000 0.063 0.000 0.016 10.315 0.427 . . . 1.227e-05 0 0 0 0 0 2.723e-05 0 0 . . . . . . . . het 517.80 47 1 40562894 . C A 517.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.066;DP=47;Dels=0.00;FS=3.006;HRun=1;HaplotypeScore=3.0588;MQ=57.70;MQ0=0;MQRankSum=0.398;QD=11.02;ReadPosRankSum=-0.398;VQSLOD=3.3370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,20:47:99:548,0,833 1 40703244 40703244 G A exonic RLF nonsynonymous SNV RLF:NM_012421:exon8:c.G2870A:p.G957D 0.0094 . 0.014 . 0.029 0.0082 0.0228 0.0040 0.0125 0 0.0372 0.0316 0.0243 0.0123 0.023 0.0054 0.032 0.011 0.025 rs35042446 . . . . . . . . . . . . . 0.003 0.682 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 1.000 0.588 D 0.975 0.246 L 1.12 0.387 T -1.55 0.375 N 0.349 0.410 -0.904 0.476 T 0.086 0.335 T . . . 4.326 0.579 24.0 0.997 0.802 0.992 0.925 D c 0.768 0.814 1.000 0.747 0.722 0.854 0 6.06 0.983 7.565 0.812 1.048 0.713 1.000 0.715 1.000 0.888 20.621 0.995 Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0234 0.0035 0.0165 0.0368 0 0.0365 0.0308 0.0275 0.0125 0.0241 0.0047 0.0143 0.0397 0 0.0335 0.0353 0.0356 het 1464.69 122 1 40703244 . G A 1464.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.401;DP=122;Dels=0.00;FS=1.472;HRun=0;HaplotypeScore=2.9285;MQ=59.07;MQ0=0;MQRankSum=-0.731;QD=12.01;ReadPosRankSum=-0.618;VQSLOD=5.9720;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,58:122:99:1495,0,1694 1 40773123 40773123 G C exonic COL9A2 nonsynonymous SNV COL9A2:NM_001852:exon19:c.C1003G:p.L335V 0.085 0.051 0.084 0.11 0.097 0.096 0.1077 0.0695 0.0823 0.1228 0.0948 0.1169 0.1144 0.1078 0.1 0.074 0.11 0.087 0.066 rs2228567 COSM329270 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Stickler_Syndrome\x2c_Recessive|Multiple_Epiphyseal_Dysplasia\x2c_Dominant RCV000254333.2|RCV000296221.1|RCV000350869.1 MedGen|MedGen|MedGen CN169374|CN239473|CN043640 . . . . . . 0.05 0.395 D 0.822 0.438 P 0.552 0.475 P 0.023 0.266 N 0.654 0.305 P 1.445 0.365 L -3.24 0.935 D -0.84 0.229 N 0.12 0.134 -0.627 0.637 T 0.040 0.171 T . . . 3.607 0.491 23.2 0.991 0.528 0.812 0.404 D c -0.079 -0.054 0.990 0.318 0.672 0.522 0 3.0 0.336 0.394 0.204 0.146 0.234 0.177 0.238 0.999 0.750 8.241 0.306 . . . 0.1043 0.0656 0.0819 0.0635 0.1228 0.0850 0.1200 0.0971 0.1090 0.0933 0.0642 0.0871 0.0364 0.1142 0.0814 0.1113 0.1071 het 379.96 34 1 40773123 . G C 379.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.018;DP=34;Dels=0.00;FS=8.008;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=-0.776;QD=11.18;ReadPosRankSum=0.811;VQSLOD=3.9616;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,16:34:99:410,0,447 1 40773149 40773149 T C exonic COL9A2 nonsynonymous SNV COL9A2:NM_001852:exon19:c.A977G:p.Q326R 0.4 0.42 0.41 0.62 0.22 0.32 0.3033 0.4145 0.5021 0.5978 0.2455 0.2210 0.2511 0.2980 0.28 0.4 0.21 0.37 0.2 rs2228564 . . Benign|Benign|Benign not_specified|Multiple_Epiphyseal_Dysplasia\x2c_Dominant|Stickler_Syndrome\x2c_Recessive RCV000248635.2|RCV000297316.1|RCV000401202.1 MedGen|MedGen|MedGen CN169374|CN043640|CN239473 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.373 N 1.000 0.090 P 0.955 0.240 L -3.36 0.941 D -0.82 0.225 N 0.044 0.024 -0.934 0.436 T 0.000 0.000 T . . . 0.192 0.112 4.598 0.769 0.113 0.031 0.080 N c -0.936 -0.705 0.999 0.387 0.632 0.406 0 5.02 0.666 0.555 0.230 0.062 0.168 0.598 0.275 0.899 0.380 9.449 0.377 . . . 0.3028 0.4106 0.4807 0.1970 0.6 0.2418 0.2152 0.2580 0.2924 0.3042 0.4130 0.4690 0.2053 0.6047 0.2380 0.2198 0.2571 het 333.36 35 1 40773149 . T C 333.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.250;DP=35;Dels=0.00;FS=10.352;HRun=1;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=0.417;QD=9.52;ReadPosRankSum=-0.383;VQSLOD=4.2910;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,15:35:99:363,0,618 1 40881041 40881041 C G exonic SMAP2 synonymous SNV SMAP2:NM_001198978:exon7:c.C579G:p.S193S,SMAP2:NM_001198979:exon7:c.C654G:p.S218S,SMAP2:NM_001198980:exon7:c.C429G:p.S143S,SMAP2:NM_022733:exon7:c.C669G:p.S223S 0.95 0.99 0.92 0.98 0.88 0.94 0.8978 0.9792 0.9187 0.9674 0.7856 0.8780 0.9108 0.9197 0.92 0.98 0.88 0.98 0.9 rs209606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8953 0.9803 0.9205 0.9319 0.9688 0.7807 0.8775 0.8970 0.9199 0.8990 0.9782 0.9069 0.9205 0.9815 0.7839 0.8719 0.8686 hom 5454.14 167 1 40881041 . C G 5454.14 Mask AC=2;AF=1.00;AN=2;DP=167;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8410;MQ=59.20;MQ0=0;QD=32.66;VQSLOD=9.4216;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5453,430,0 1 41204569 41204569 C T exonic NFYC synonymous SNV NFYC:NM_001308114:exon1:c.C54T:p.S18S,NFYC:NM_001142587:exon2:c.C54T:p.S18S,NFYC:NM_001142588:exon2:c.C54T:p.S18S,NFYC:NM_001142589:exon2:c.C54T:p.S18S,NFYC:NM_001308115:exon2:c.C54T:p.S18S,NFYC:NM_014223:exon2:c.C54T:p.S18S,NFYC:NM_001142590:exon7:c.C54T:p.S18S 0.48 0.42 0.51 0.47 0.59 0.44 0.5294 0.4347 0.4560 0.5043 0.5340 0.5770 0.5485 0.4579 0.54 0.45 0.58 0.47 0.58 rs1057925 COSM3751194;COSM3751193;COSM3751192 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5283 0.4313 0.4637 0.5345 0.5035 0.5364 0.5822 0.5376 0.4559 0.5174 0.4207 0.4928 0.5232 0.4851 0.5335 0.5735 0.5327 hom 3346.82 117 1 41204569 . C T 3346.82 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=28.61;VQSLOD=8.7180;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3346,262,0 1 41485902 41485902 C G exonic SLFNL1 nonsynonymous SNV SLFNL1:NM_144990:exon2:c.G431C:p.R144T,SLFNL1:NM_001168247:exon3:c.G431C:p.R144T,SLFNL1:NM_001300859:exon3:c.G431C:p.R144T 0.18 0.017 0.29 0.17 0.3 0.22 0.2750 0.0606 0.2914 0.1394 0.3147 0.3226 0.3027 0.2551 0.23 0.075 0.31 0.18 0.28 rs3738368 COSM3751197 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.946 0.554 P 0.592 0.487 P 0.045 0.236 N 0.906 0.276 P 2.045 0.562 M 0.24 0.596 T -2.3 0.511 N 0.136 0.232 -1.062 0.113 T 0.000 0.000 T . . . 0.668 0.158 8.616 0.892 0.180 0.738 0.358 D c -0.339 -0.445 1.000 0.747 0.676 0.548 0 3.77 0.423 0.181 0.166 0.059 0.165 0.006 0.172 0.232 0.224 8.589 0.327 . ENSG00000235358.1|ENSG00000171790.11|ENSG00000235358.1|ENSG00000171793.9|ENSG00000235358.1|ENSG00000235358.1 Artery_Aorta|Esophagus_Mucosa|Esophagus_Muscularis|Testis|Testis|Thyroid 0.2697 0.0557 0.2818 0.2992 0.1362 0.3148 0.3188 0.2981 0.2245 0.2280 0.0591 0.2816 0.2980 0.1173 0.3181 0.3101 0.2731 het 1570.50 140 1 41485902 . C G 1570.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.512;DP=140;Dels=0.00;FS=0.641;HRun=0;HaplotypeScore=4.7715;MQ=59.13;MQ0=0;MQRankSum=-0.560;QD=11.22;ReadPosRankSum=-0.254;VQSLOD=5.3542;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,62:140:99:1600,0,2051 1 41976328 41976328 T C exonic HIVEP3 nonsynonymous SNV HIVEP3:NM_001127714:exon8:c.A7012G:p.T2338A,HIVEP3:NM_024503:exon9:c.A7015G:p.T2339A 0.96 0.87 0.99 1. 1. 1. 0.9890 0.8821 0.9950 1 0.9917 0.9986 1 0.9999 0.97 0.91 1. 0.94 0.066 rs9439043 COSM3749053 2(thyroid);9(large_intestine) Benign not_specified RCV000454706.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.392 0.132 N 1 0.090 P -0.625 0.021 N 3.44 0.054 T 0.17 0.056 N 0.014 0.004 -0.989 0.328 T 0.000 0.000 T . . . -2.816 0.002 0.001 0.135 0.003 0.003 0.018 N c -1.779 -1.664 0.992 0.328 0.615 0.372 0 2.17 0.266 0.588 0.235 -0.323 0.076 0.072 0.219 0.001 0.043 8.562 0.325 . . . 0.9926 0.8902 0.9941 0.9997 1 0.9998 0.9986 0.9938 0.9998 0.9720 0.9043 0.9868 1 1 1 0.9991 0.9918 hom 289.12 10 1 41976328 . T C 289.12 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.65;MQ0=0;QD=28.91;VQSLOD=7.4298;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:322,27,0 1 41978825 41978825 C G exonic HIVEP3 nonsynonymous SNV HIVEP3:NM_001127714:exon7:c.G6067C:p.A2023P,HIVEP3:NM_024503:exon8:c.G6067C:p.A2023P 0.99 0.98 1. 1. 1. 1. 0.9986 0.9843 0.9991 1 1 1 1 1 0.99 0.98 1. 0.99 0.93 rs2483689 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.037 0.244 N 1 0.090 P -2.34 0.001 N 3.64 0.043 T 2.47 0.002 N 0.032 0.035 -0.947 0.415 T 0.000 0.000 T . . . 0.016 0.095 2.743 0.140 0.003 0.022 0.063 N c -1.094 -1.002 1.000 0.517 0.563 0.310 0 2.9 0.327 4.616 0.607 0.011 0.139 1.000 0.715 0.013 0.120 11.662 0.504 . . . 0.9988 0.9833 0.9993 1 1 1 1.0000 0.9993 1.0000 0.9952 0.9834 0.9988 1 1 1 0.9999 1 hom 3089.41 90 1 41978825 . C G 3089.41 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.21;MQ0=0;QD=34.33;VQSLOD=8.4385;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3122,250,0 1 41979156 41979156 A G exonic HIVEP3 synonymous SNV HIVEP3:NM_001127714:exon7:c.T5736C:p.A1912A,HIVEP3:NM_024503:exon8:c.T5736C:p.A1912A 0.73 0.66 0.72 0.99 0.58 0.73 0.6687 0.6587 0.7315 0.9948 0.6662 0.6078 0.6437 0.6987 0.62 0.65 0.6 0.69 0.43 rs615177 COSM426277 1(liver);1(thyroid);1(large_intestine) Benign not_specified RCV000455876.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6689 0.6561 0.7190 0.6418 0.9962 0.6592 0.6016 0.6433 0.6945 0.6579 0.6640 0.7208 0.6324 0.9951 0.6685 0.6120 0.6585 het 484.72 33 1 41979156 . A G 484.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.284;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9895;MQ=58.15;MQ0=0;MQRankSum=0.271;QD=14.69;ReadPosRankSum=0.054;VQSLOD=4.6130;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:515,0,424 1 42046812 42046812 C T exonic HIVEP3 synonymous SNV HIVEP3:NM_001127714:exon3:c.G3657A:p.Q1219Q,HIVEP3:NM_024503:exon4:c.G3657A:p.Q1219Q 0.98 0.92 0.99 1. 1. 1. 0.9934 0.9329 0.9973 1 1 0.9999 0.9950 1 0.98 0.94 1. 0.99 0.8 rs2810565 . . Benign not_specified RCV000455315.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9942 0.9305 0.9971 1 1 1 0.9998 0.9974 0.9998 0.9794 0.9282 0.9988 1 1 1 0.9997 0.9949 hom 2143.53 72 1 42046812 . C T 2143.53 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9717;MQ=58.97;MQ0=0;QD=29.77;VQSLOD=8.9528;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:72:99:2177,183,0 1 42048745 42048745 T C exonic HIVEP3 nonsynonymous SNV HIVEP3:NM_001127714:exon3:c.A1724G:p.H575R,HIVEP3:NM_024503:exon4:c.A1724G:p.H575R 0.99 0.96 1. 1. 1. 1. 0.9969 0.9666 0.9983 0.9998 1 0.9999 0.9967 0.9999 0.99 0.97 1. 0.94 0.97 rs2810566 COSM4143960 1(thyroid) . . . . . . . . . . . 0.391 0.108 T 0.0 0.026 B 0.0 0.013 B 0.002 0.382 N 1.000 0.205 P -1.955 0.002 N 3.57 0.047 T 0.12 0.056 N 0.032 0.043 -1.012 0.262 T 0.000 0.000 T . . . -1.316 0.022 0.004 0.445 0.034 0.168 0.194 N c -0.979 -0.702 0.997 0.348 0.651 0.465 0 2.77 0.315 1.793 0.382 0.069 0.176 1.000 0.715 0.996 0.625 7.909 0.288 . . . 0.9976 0.9663 0.9986 1 0.9999 1 0.9999 0.9984 0.9999 0.9907 0.9675 0.9988 1 1 1 0.9999 0.9990 hom 2483.45 83 1 42048745 . T C 2483.45 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7866;MQ=60.00;MQ0=0;QD=29.92;VQSLOD=8.2178;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2516,217,0 1 42049032 42049032 G A exonic HIVEP3 synonymous SNV HIVEP3:NM_001127714:exon3:c.C1437T:p.S479S,HIVEP3:NM_024503:exon4:c.C1437T:p.S479S 0.95 0.81 0.99 1. 1. 1. 0.9868 0.8558 0.9942 1 1 0.9997 0.9900 0.9999 0.95 0.87 1. 0.94 0.98 rs2984694 COSM4143961 1(thyroid) Benign not_specified RCV000456097.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9896 0.8523 0.9940 0.9999 1 1 0.9996 0.9950 0.9996 0.9582 0.8535 0.9940 1 1 1 0.9996 0.9949 hom 4097.40 131 1 42049032 . G A 4097.40 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=58.85;MQ0=0;QD=31.28;VQSLOD=9.5645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:4097,334,0 1 42049140 42049140 C G exonic HIVEP3 synonymous SNV HIVEP3:NM_001127714:exon3:c.G1329C:p.L443L,HIVEP3:NM_024503:exon4:c.G1329C:p.L443L 0.95 0.81 0.99 1. 1. 1. 0.9868 0.8558 0.9942 1 1 0.9997 0.9901 0.9999 0.95 0.87 1. 0.94 0.98 rs2475842 COSM4143962 1(thyroid) Benign not_specified RCV000454913.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9897 0.8525 0.9940 0.9998 1 1 0.9996 0.9951 0.9996 0.9583 0.8537 0.9940 1 1 1 0.9996 0.9949 hom 3342.58 103 1 42049140 . C G 3342.58 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=59.10;MQ0=0;QD=32.45;VQSLOD=9.2198;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3342,271,0 1 42050366 42050366 C T exonic HIVEP3 nonsynonymous SNV HIVEP3:NM_001127714:exon3:c.G103A:p.V35I,HIVEP3:NM_024503:exon4:c.G103A:p.V35I 0.31 0.32 0.19 0.43 0.23 0.32 0.2722 0.3057 0.2128 0.4319 0.2973 0.2422 0.2998 0.3401 0.26 0.3 0.23 0.3 0.19 rs2146315 COSM1342685 1(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.292 0.162 T 0.0 0.026 B 0.001 0.040 B 0.318 0.041 N 1 0.090 P 0.345 0.112 N 3.41 0.056 T -0.28 0.116 N 0.017 0.075 -0.909 0.470 T 0.000 0.000 T . . . -0.559 0.052 0.157 0.792 0.122 0.034 0.084 N c -1.409 -1.423 0.981 0.301 0.563 0.310 0 -2.92 0.052 -1.015 0.037 -0.347 0.071 0.000 0.063 0.032 0.149 10.926 0.462 . . . 0.2725 0.3027 0.2155 0.3657 0.4352 0.3043 0.2337 0.2607 0.3236 0.2768 0.3066 0.2010 0.3642 0.4689 0.3063 0.2329 0.2992 het 3100.65 248 1 42050366 . C T 3100.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.991;DP=248;DS;Dels=0.00;FS=0.503;HRun=0;HaplotypeScore=7.9224;MQ=59.49;MQ0=0;MQRankSum=-1.103;QD=12.50;ReadPosRankSum=-1.761;VQSLOD=3.8029;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,121:248:99:3131,0,3294 1 42693597 42693597 A G exonic FOXJ3 nonsynonymous SNV FOXJ3:NM_001198850:exon5:c.T485C:p.V162A,FOXJ3:NM_001198852:exon5:c.T485C:p.V162A,FOXJ3:NM_014947:exon5:c.T485C:p.V162A,FOXJ3:NM_001198851:exon7:c.T485C:p.V162A 0.8 0.76 0.89 0.85 0.79 0.72 0.8034 0.7666 0.9195 0.8265 0.8168 0.8009 0.7896 0.7384 0.78 0.77 0.79 0.78 0.81 rs343376 COSM3746966 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.038 0.243 N 1.000 0.200 P 0.605 0.157 N -3.71 0.954 D 0.27 0.043 N 0.076 0.089 -0.924 0.450 T 0.000 0.000 T . . . 1.326 0.223 12.40 0.920 0.207 0.034 0.084 N c -0.647 -0.416 1.000 0.489 0.737 0.974 0 3.81 0.429 3.913 0.559 -0.326 0.075 0.999 0.424 0.989 0.536 9.486 0.379 Fork head domain|Winged helix-turn-helix DNA-binding domain . . 0.8080 0.7627 0.9109 0.8502 0.8253 0.8163 0.7944 0.8121 0.7396 0.7893 0.7628 0.8995 0.8775 0.8284 0.8227 0.7846 0.7908 hom 4464.58 160 1 42693597 . A G 4464.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.645;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3095;MQ=57.99;MQ0=0;MQRankSum=1.624;QD=27.90;ReadPosRankSum=0.346;VQSLOD=6.1818;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,159:160:99:4439,324,0 1 42880516 42880516 T C exonic RIMKLA synonymous SNV RIMKLA:NM_173642:exon5:c.T1047C:p.S349S 0.49 0.52 0.52 0.34 0.64 0.42 0.5800 0.5336 0.5578 0.3624 0.6620 0.6378 0.6200 0.4703 0.6 0.54 0.64 0.53 0.59 rs1055055 COSM146486 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5813 0.5354 0.5540 0.6983 0.3498 0.6719 0.6316 0.6152 0.4719 0.6030 0.5507 0.5430 0.6921 0.3240 0.6725 0.6489 0.6020 het 1937.46 138 1 42880516 . T C 1937.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.815;DP=138;Dels=0.00;FS=0.657;HRun=0;HaplotypeScore=1.7329;MQ=59.83;MQ0=0;MQRankSum=-0.285;QD=14.04;ReadPosRankSum=1.563;VQSLOD=6.2492;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,71:138:99:1967,0,1833 1 42898843 42898843 A G exonic ZMYND12 nonsynonymous SNV ZMYND12:NM_001146192:exon6:c.T616C:p.F206L,ZMYND12:NM_032257:exon7:c.T946C:p.F316L 0.65 0.6 0.6 0.65 0.66 0.74 0.6636 0.5921 0.5996 0.6646 0.6710 0.6665 0.6542 0.7389 0.65 0.59 0.67 0.56 0.67 rs1034268 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.75 0.000 N -0.67 0.725 T 2.99 0.001 N 0.143 0.168 -0.916 0.461 T 0.000 0.000 T . . . 1.615 0.256 13.93 0.654 0.076 0.043 0.097 N c -0.912 -0.567 0.590 0.216 0.554 0.283 0 4.8 0.610 2.292 0.430 0.138 0.222 1.000 0.715 0.997 0.653 7.992 0.292 Tetratricopeptide-like helical domain ENSG00000164008.9|ENSG00000177868.7|ENSG00000171960.6 Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.6631 0.5896 0.6009 0.6806 0.6677 0.6634 0.6688 0.6447 0.7405 0.6487 0.5876 0.5947 0.6358 0.6894 0.6720 0.6762 0.6691 hom 7137.91 222 1 42898843 . A G 7137.91 Mask AC=2;AF=1.00;AN=2;DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1526;MQ=59.14;MQ0=0;QD=32.15;VQSLOD=9.4866;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,222:222:99:7137,545,0 1 42915727 42915727 C G exonic ZMYND12 synonymous SNV ZMYND12:NM_032257:exon2:c.G114C:p.G38G 0.28 0.18 0.16 0.44 0.19 0.46 0.2358 0.1819 0.1278 0.4054 0.1705 0.1974 0.2390 0.4380 0.19 0.19 0.2 0.28 0.15 rs12047095 COSM3751200 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2325 0.1806 0.1358 0.1856 0.4113 0.1682 0.2021 0.2131 0.4379 0.1992 0.1842 0.1376 0.1788 0.4321 0.1724 0.1920 0.2118 het 2089.84 177 1 42915727 . C G 2089.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.099;DP=177;Dels=0.00;FS=0.587;HRun=0;HaplotypeScore=3.2293;MQ=59.66;MQ0=0;MQRankSum=0.558;QD=11.81;ReadPosRankSum=-0.773;VQSLOD=6.0644;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,81:177:99:2120,0,2595 1 43042703 43042703 C T exonic CCDC30 synonymous SNV CCDC30:NM_001080850:exon7:c.C868T:p.L290L 0.29 0.18 0.16 0.46 0.19 0.45 0.2373 0.1837 0.1268 0.4208 0.1399 0.2009 0.2404 0.4368 0.19 0.18 0.2 0.27 0.15 rs12049046 COSM4416594;COSM3751201 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2291 0.1790 0.1337 0.1864 0.4239 0.1379 0.2014 0.2085 0.4338 0.1954 0.1842 0.1343 0.1854 0.4428 0.1433 0.1905 0.2045 het 845.36 60 1 43042703 . C T 845.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.675;DP=60;Dels=0.00;FS=7.892;HRun=1;HaplotypeScore=2.7855;MQ=58.96;MQ0=0;MQRankSum=0.862;QD=14.09;ReadPosRankSum=-0.267;VQSLOD=5.0236;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,33:60:99:875,0,642 1 43047057 43047057 A G exonic CCDC30 synonymous SNV CCDC30:NM_001080850:exon8:c.A1092G:p.E364E 0.28 0.17 0.15 0.44 0.19 0.45 0.2318 0.1777 0.1220 0.3996 0.1390 0.1968 0.2351 0.4336 0.19 0.18 0.2 0.24 0.14 rs12037518 COSM4419053;COSM4419052 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2266 0.1743 0.1291 0.1881 0.4052 0.1377 0.2022 0.2062 0.4368 0.1925 0.1789 0.1265 0.1854 0.4225 0.1429 0.1906 0.1994 het 1529.04 111 1 43047057 . A G 1529.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.468;DP=111;Dels=0.00;FS=0.714;HRun=0;HaplotypeScore=0.9979;MQ=58.78;MQ0=0;MQRankSum=0.416;QD=13.78;ReadPosRankSum=1.414;VQSLOD=5.8353;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,58:111:99:1559,0,1310 1 43119661 43119661 C A exonic CCDC30 nonsynonymous SNV CCDC30:NM_001080850:exon16:c.C2314A:p.H772N 0.075 0.19 0.039 0.001 0.033 0.07 0.0449 0.1626 0.0299 0.0015 0.0219 0.0344 0.0376 0.0560 0.077 0.15 0.037 0.065 0.016 rs16829829 . . . . . . . . . . . . . 0.015 0.524 D 0.007 0.131 B 0.005 0.104 B 0.880 0.088 N 1 0.090 P 1.3 0.327 L 0.86 0.468 T -0.56 0.253 N 0.023 0.047 -1.064 0.108 T 0.000 0.002 T . . . 0.536 0.145 7.698 0.786 0.119 0.055 0.112 N c -0.888 -0.906 0.000 0.053 0.554 0.246 0 1.38 0.212 -0.129 0.104 0.852 0.362 0.000 0.063 0.407 0.255 4.642 0.119 . . . 0.0424 0.1669 0.0301 0.0537 0.0018 0.0216 0.0351 0.0427 0.0547 0.0655 0.1602 0.0203 0.0397 0.0012 0.0252 0.0317 0.0378 het 494.95 49 1 43119661 . C A 494.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.000;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4923;MQ=59.24;MQ0=0;MQRankSum=-0.980;QD=10.10;ReadPosRankSum=0.333;VQSLOD=6.2082;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,21:49:99:525,0,809 1 43201614 43201614 C T exonic CLDN19 nonsynonymous SNV CLDN19:NM_001185117:exon3:c.G476A:p.R159Q 0.052 0.1 0.039 0.001 0.04 0.06 0.0772 0.1241 0.1033 0.0019 0.0790 0.0794 0.0720 0.0655 0.058 0.09 0.041 0.065 . rs9660973 COSM4783690;COSM3751202 1(large_intestine) Likely benign Renal_Hypomagnesemia\x2c_Recessive RCV000336220.1 MedGen CN239444 . . . . . . 0.164 0.233 T 0.003 0.102 B 0.001 0.040 B . . . 0.985 0.402 D . . . -2.15 0.865 D -0.62 0.183 N . . -0.901 0.479 T 0.019 0.078 T . . . 1.536 0.247 13.51 0.950 0.254 0.045 0.100 N c -1.525 -1.674 1.000 0.747 0.696 0.567 0 -8.62 0.008 -2.394 0.011 -1.740 0.007 0.001 0.137 0.047 0.162 2.721 0.048 . ENSG00000117385.11|ENSG00000164007.6 Cells_Transformed_fibroblasts|Nerve_Tibial 0.0426 0.0966 0.0368 0.0614 0.0018 0.0263 0.0414 0.0513 0.0551 0.0496 0.0943 0.0263 0.0464 0.0012 0.0326 0.0349 0.0380 het 182.77 10 1 43201614 . C T 182.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.580;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.546;QD=18.28;ReadPosRankSum=1.386;VQSLOD=12.2915;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,7:10:45.39:213,0,45 1 43212926 43212926 G A exonic P3H1 nonsynonymous SNV P3H1:NM_001146289:exon14:c.C2072T:p.A691V,P3H1:NM_001243246:exon14:c.C2072T:p.A691V 0.062 0.14 0.039 0.001 0.04 0.06 0.0473 0.1347 0.0370 0.0016 0.0281 0.0414 0.0465 0.0553 0.074 0.13 0.044 0.098 0.033 rs67014447 COSM3751203 1(large_intestine) Benign not_specified RCV000425880.1 MedGen CN169374 . . . . . . 1.0 0.912 T . . . . . . . . . 1 0.090 N . . . 1.2 0.374 T 1.24 0.102 N 0.025 0.028 -1.031 0.201 T 0.001 0.003 T . . . 0.773 0.168 9.299 0.697 0.088 0.010 0.038 N c -0.887 -1.129 1.000 0.747 0.778 0.996 0 . . -0.462 0.067 0.000 0.135 0.010 0.182 0.016 0.126 . . . ENSG00000117385.11|ENSG00000164007.6 Cells_Transformed_fibroblasts|Nerve_Tibial 0.0455 0.1363 0.0380 0.0615 0.0019 0.0264 0.0416 0.0526 0.0549 0.0588 0.1260 0.0286 0.0467 0.0012 0.0323 0.0354 0.0399 het 1651.13 120 1 43212926 . G A 1651.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.837;DP=120;Dels=0.00;FS=6.984;HRun=0;HaplotypeScore=5.2998;MQ=59.81;MQ0=0;MQRankSum=-1.231;QD=13.76;ReadPosRankSum=0.896;VQSLOD=3.8705;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,62:120:99:1681,0,1568 1 43223489 43223489 C T exonic P3H1 nonsynonymous SNV P3H1:NM_001146289:exon5:c.G1045A:p.G349R,P3H1:NM_001243246:exon5:c.G1045A:p.G349R,P3H1:NM_022356:exon5:c.G1045A:p.G349R 0.055 0.11 0.039 0.001 0.039 0.061 0.0448 0.1086 0.0364 0.0016 0.0281 0.0410 0.0419 0.0555 0.066 0.11 0.043 0.076 0.033 rs6700677 COSM1342736;COSM1342737 2(soft_tissue);1(large_intestine) Benign not_specified RCV000443398.1 MedGen CN169374 . . . . . . 0.002 0.721 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 1 0.810 D 3.235 0.898 M -1.66 0.827 D -4.54 0.810 D 0.338 0.539 -0.536 0.673 T 0.067 0.276 T . . . 6.532 0.900 31 0.999 0.997 0.991 0.908 D c 0.841 0.781 1.000 0.747 0.719 0.830 0 5.84 0.934 7.568 0.814 0.935 0.490 1.000 0.715 0.762 0.325 17.643 0.880 Tetratricopeptide-like helical domain ENSG00000117385.11|ENSG00000164007.6 Cells_Transformed_fibroblasts|Nerve_Tibial 0.0436 0.1100 0.0371 0.0614 0.0019 0.0265 0.0413 0.0512 0.0552 0.0516 0.1012 0.0263 0.0464 0.0012 0.0323 0.0351 0.0387 het 3104.18 245 1 43223489 . C T 3104.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.181;DP=245;DS;Dels=0.00;FS=1.600;HRun=0;HaplotypeScore=2.5598;MQ=59.48;MQ0=0;MQRankSum=-1.291;QD=12.67;ReadPosRankSum=0.011;VQSLOD=6.2099;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:131,114:245:99:3134,0,3674 1 43232504 43232504 C A exonic P3H1 nonsynonymous SNV P3H1:NM_001146289:exon1:c.G139T:p.A47S,P3H1:NM_001243246:exon1:c.G139T:p.A47S,P3H1:NM_022356:exon1:c.G139T:p.A47S 0.04 0.079 0.022 0.001 0.026 0.053 0.0327 0.0842 0.0234 0.0018 0.0196 0.0294 0.0287 0.0465 0.042 0.068 0.03 . 0.016 rs55716016 . . Benign not_specified RCV000432456.1 MedGen CN169374 . . . . . . 0.387 0.117 T 0.047 0.206 B 0.02 0.179 B 0.023 0.266 N 0.983 0.249 N 1.115 0.288 L 1.22 0.370 T -0.34 0.138 N 0.05 0.198 -1.056 0.127 T 0.004 0.013 T . . . 2.784 0.396 21.3 0.942 0.239 0.186 0.201 N c -0.485 -0.312 1.000 0.747 0.442 0.072 0 3.23 0.360 0.206 0.170 -0.018 0.130 0.994 0.380 0.991 0.552 9.280 0.367 . ENSG00000117385.11|ENSG00000164007.6 Cells_Transformed_fibroblasts|Nerve_Tibial 0.0309 0.0794 0.0219 0.0389 0.0018 0.0176 0.0293 0.0350 0.0448 0.0372 0.0725 0.0143 0.0265 0.0012 0.0221 0.0263 0.0275 het 777.96 57 1 43232504 . C A 777.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.752;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7006;MQ=59.27;MQ0=0;MQRankSum=-0.850;QD=13.65;ReadPosRankSum=-1.613;VQSLOD=4.7903;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,30:57:99:808,0,712 1 43296173 43296173 C T exonic ERMAP synonymous SNV ERMAP:NM_018538:exon2:c.C54T:p.L18L,ERMAP:NM_001017922:exon3:c.C54T:p.L18L 0.15 0.092 0.26 0.0099 0.25 0.17 0.2226 0.1126 0.2738 0.0168 0.3550 0.2550 0.2291 0.1797 0.2 0.12 0.24 0.065 0.26 rs33950227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2253 0.1100 0.2698 0.1777 0.0162 0.3543 0.2520 0.2274 0.1760 0.2193 0.1103 0.2608 0.1633 0.0099 0.3594 0.2684 0.2679 het 1813.93 163 1 43296173 . C T 1813.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.727;DP=163;Dels=0.00;FS=3.637;HRun=1;HaplotypeScore=0.9983;MQ=59.73;MQ0=0;MQRankSum=0.566;QD=11.13;ReadPosRankSum=0.690;VQSLOD=6.2213;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,77:163:99:1844,0,2131 1 43296195 43296195 C T exonic ERMAP nonsynonymous SNV ERMAP:NM_018538:exon2:c.C76T:p.H26Y,ERMAP:NM_001017922:exon3:c.C76T:p.H26Y 0.14 0.023 0.27 0.0099 0.3 0.19 0.2414 0.0597 0.2886 0.0170 0.3735 0.2876 0.2467 0.2007 0.21 0.07 0.28 0.076 0.26 rs33953680 . . . . . . . . . . . . . 0.638 0.050 T 0.985 0.592 D 0.657 0.509 P 0.247 0.036 N 1 0.090 P 0.55 0.145 N 0.9 0.453 T -1.04 0.273 N 0.041 0.041 -1.031 0.200 T 0.000 0.000 T . . . -1.398 0.019 0.003 0.541 0.050 0.033 0.082 N c -1.083 -1.126 0.984 0.305 0.615 0.372 0 0.706 0.172 -0.177 0.097 -0.717 0.036 0.000 0.063 0.000 0.016 8.39 0.315 Immunoglobulin-like domain ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000164008.9|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000228452.1|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.2459 0.0567 0.2870 0.2030 0.0163 0.3747 0.2863 0.2536 0.1964 0.2218 0.0557 0.2758 0.1821 0.0105 0.3778 0.2982 0.2914 het 1540.22 141 1 43296195 . C T 1540.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.565;DP=141;Dels=0.00;FS=0.677;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.013;QD=10.92;ReadPosRankSum=-0.865;VQSLOD=5.9588;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,66:141:99:1570,0,2115 1 43618596 43618596 G A exonic FAM183A synonymous SNV FAM183A:NM_001101376:exon3:c.G291A:p.E97E 0.12 0.058 0.15 . 0.28 0.14 0.2376 0.0823 0.1329 0.0006 0.2822 0.3006 0.2493 0.2231 0.19 0.069 0.25 0.14 . rs12074551 COSM4143978;COSM4143977 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2014 0.0670 0.1093 0.2913 0.0004 0.2520 0.2621 0.2169 0.1940 0.1800 0.0689 0.1100 0.2682 0.0006 0.2436 0.2486 0.2235 het 398.24 37 1 43618596 . G A 398.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.817;DP=37;Dels=0.00;FS=4.357;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.751;QD=10.76;ReadPosRankSum=-0.628;VQSLOD=5.6334;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,16:37:99:428,0,576 1 43632536 43632536 C T exonic EBNA1BP2 nonsynonymous SNV EBNA1BP2:NM_006824:exon7:c.G668A:p.R223H,EBNA1BP2:NM_001159936:exon8:c.G833A:p.R278H 0.14 0.13 0.15 . 0.29 0.14 0.2105 0.1163 0.0998 0.0005 0.2565 0.2707 0.2225 0.1955 0.21 0.12 0.26 0.17 0.27 rs7163 . . . . . . . . . . . . . 0.122 0.315 T 0.864 0.455 P 0.357 0.413 B 0.256 0.037 N 1 0.090 P 0.625 0.159 N 0.94 0.437 T -0.76 0.212 N 0.037 0.061 -1.067 0.101 T 0.000 0.000 T . . . 1.028 0.192 10.82 0.970 0.315 0.241 0.221 N c -0.958 -1.090 0.000 0.053 0.707 0.730 0 -1.47 0.083 0.151 0.160 -1.161 0.017 0.000 0.063 0.000 0.016 1.375 0.021 . ENSG00000186973.6|ENSG00000186973.6|ENSG00000243710.3 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Testis 0.2066 0.1138 0.1099 0.2921 0.0004 0.2519 0.2664 0.2224 0.1928 0.1946 0.1150 0.1184 0.2682 0.0006 0.2435 0.2508 0.2316 het 2118.44 159 1 43632536 . C T 2118.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.762;DP=159;Dels=0.00;FS=2.070;HRun=0;HaplotypeScore=9.6164;MQ=59.05;MQ0=0;MQRankSum=0.269;QD=13.32;ReadPosRankSum=0.087;VQSLOD=4.2575;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,87:159:99:2148,0,1673 1 43636484 43636484 C G exonic EBNA1BP2 synonymous SNV EBNA1BP2:NM_006824:exon4:c.G390C:p.T130T,EBNA1BP2:NM_001159936:exon5:c.G555C:p.T185T 0.14 0.13 0.15 . 0.29 0.14 0.2106 0.1170 0.0998 0.0005 0.2565 0.2708 0.2225 0.1956 0.21 0.12 0.26 0.17 0.27 rs1049276 COSM5021272;COSM5021271 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2057 0.1125 0.1045 0.2921 0.0003 0.2515 0.2645 0.2196 0.1921 0.1950 0.1162 0.1181 0.2682 0.0006 0.2451 0.2506 0.2312 het 4086.72 250 1 43636484 . C G 4086.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.316;DP=250;DS;Dels=0.00;FS=3.621;HRun=1;HaplotypeScore=5.5380;MQ=59.18;MQ0=0;MQRankSum=-1.072;QD=16.35;ReadPosRankSum=0.137;VQSLOD=3.6839;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3430,0,3492 1 43638457 43638457 T A exonic CFAP57 synonymous SNV CFAP57:NM_001167965:exon2:c.T33A:p.V11V,CFAP57:NM_001195831:exon2:c.T33A:p.V11V,CFAP57:NM_152498:exon2:c.T33A:p.V11V 0.14 0.13 0.15 . 0.29 0.15 0.2109 0.1177 0.1000 0.0005 0.2564 0.2709 0.2225 0.1965 0.21 0.12 0.26 0.17 0.2 rs1782387 COSM5618806 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2081 0.1155 0.1122 0.2945 0.0003 0.2522 0.2674 0.2241 0.1975 0.1949 0.1165 0.1196 0.2667 0.0006 0.2453 0.2505 0.2279 het 818.85 75 1 43638457 . T A 818.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.136;DP=75;Dels=0.00;FS=0.905;HRun=0;HaplotypeScore=1.9321;MQ=58.88;MQ0=0;MQRankSum=0.759;QD=10.92;ReadPosRankSum=-0.653;VQSLOD=6.3086;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,35:75:99:849,0,1090 1 43649508 43649508 A G exonic CFAP57 nonsynonymous SNV CFAP57:NM_001167965:exon4:c.A721G:p.N241D,CFAP57:NM_001195831:exon4:c.A721G:p.N241D,CFAP57:NM_152498:exon4:c.A721G:p.N241D 0.52 0.84 0.51 0.32 0.41 0.41 0.4499 0.7761 0.5360 0.2788 0.4531 0.4064 0.4680 0.4471 0.52 0.76 0.4 0.62 0.41 rs663824 COSM3751212 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.453 0.089 T 0.0 0.026 B 0.0 0.040 B 0.268 0.038 N 1 0.090 P -0.895 0.014 N 3.31 0.063 T 0.71 0.030 N 0.04 0.041 -1.047 0.152 T 0.000 0.000 T . . . -2.100 0.007 0.001 0.450 0.035 0.112 0.163 N c -1.890 -1.858 0.000 0.029 0.447 0.083 0 -3.6 0.043 0.635 0.241 -1.119 0.018 0.000 0.063 0.001 0.043 2.883 0.053 WD40/YVTN repeat-like-containing domain ENSG00000243710.3|ENSG00000243710.3|ENSG00000243710.3|ENSG00000243710.3|ENSG00000243710.3|ENSG00000243710.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial|Testis 0.4451 0.7818 0.5198 0.4517 0.2780 0.4520 0.4005 0.4328 0.4464 0.5023 0.7768 0.5120 0.4536 0.2866 0.4407 0.3867 0.4150 het 2394.77 238 1 43649508 . A G 2394.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.884;DP=238;DS;Dels=0.00;FS=4.802;HRun=0;HaplotypeScore=7.8911;MQ=59.55;MQ0=0;MQRankSum=-1.702;QD=10.06;ReadPosRankSum=0.024;VQSLOD=3.4667;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:140,98:238:99:2425,0,4038 1 43664218 43664218 C T exonic CFAP57 synonymous SNV CFAP57:NM_001167965:exon8:c.C1329T:p.H443H,CFAP57:NM_001195831:exon8:c.C1329T:p.H443H,CFAP57:NM_152498:exon8:c.C1329T:p.H443H 0.2 0.28 0.21 0.002 0.32 0.17 0.2530 0.2537 0.1946 0.0007 0.3059 0.2968 0.2704 0.2262 0.27 0.25 0.29 0.23 0.3 rs603123 COSM3751213 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2504 0.2527 0.1995 0.3021 0.0005 0.3015 0.2945 0.2632 0.2290 0.2566 0.2544 0.2160 0.2947 0.0012 0.2941 0.2776 0.2658 het 1286.15 99 1 43664218 . C T 1286.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.397;DP=99;Dels=0.00;FS=0.751;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.844;QD=12.99;ReadPosRankSum=-0.298;VQSLOD=6.2261;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,48:99:99:1316,0,1348 1 43675467 43675467 G A exonic CFAP57 synonymous SNV CFAP57:NM_001167965:exon11:c.G1809A:p.S603S,CFAP57:NM_001195831:exon11:c.G1809A:p.S603S,CFAP57:NM_152498:exon11:c.G1809A:p.S603S 0.69 0.54 0.68 0.68 0.89 0.73 0.7914 0.5675 0.5902 0.7230 0.8183 0.8774 0.7896 0.7506 0.77 0.57 0.88 0.66 0.84 rs2453412 COSM5438325 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7896 0.5617 0.6140 0.9164 0.7221 0.8180 0.8762 0.8218 0.7518 0.7614 0.5519 0.6348 0.8974 0.7125 0.8206 0.8745 0.8255 hom 3902.26 128 1 43675467 . G A 3902.26 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1949;MQ=59.16;MQ0=0;QD=30.49;VQSLOD=7.7157;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:3902,307,0 1 43784956 43784956 A G exonic TIE1 synonymous SNV TIE1:NM_001253357:exon18:c.A2838G:p.L946L,TIE1:NM_005424:exon18:c.A2973G:p.L991L 0.23 0.18 0.36 0.15 0.38 0.11 0.3112 0.1949 0.2954 0.1513 0.3411 0.3834 0.3436 0.1733 0.33 0.21 0.39 0.32 0.39 rs1199039 COSM4143981 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3163 0.1936 0.3104 0.4247 0.1453 0.3389 0.3850 0.3494 0.1735 0.3011 0.1964 0.3122 0.4106 0.1326 0.3217 0.3715 0.3172 hom 4550.83 143 1 43784956 . A G 4550.83 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.293;DP=143;Dels=0.00;FS=3.301;HRun=1;HaplotypeScore=1.6006;MQ=59.08;MQ0=0;MQRankSum=-0.488;QD=31.82;ReadPosRankSum=-1.513;VQSLOD=4.2927;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,142:143:99:4514,313,0 1 43825644 43825644 T C exonic CDC20 synonymous SNV CDC20:NM_001255:exon5:c.T432C:p.Y144Y 0.23 0.24 0.37 0.11 0.37 0.091 0.3069 0.2682 0.2878 0.0981 0.3326 0.3782 0.3337 0.1539 0.35 0.28 0.38 0.3 0.39 rs839763 COSM3997534 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3103 0.2675 0.3047 0.4141 0.0928 0.3314 0.3796 0.3463 0.1531 0.3133 0.2649 0.3165 0.4133 0.0827 0.3120 0.3644 0.3136 hom 8663.18 241 1 43825644 . T C 8663.18 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.0069;MQ=59.39;MQ0=0;QD=35.95;VQSLOD=7.6720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:8662,692,0 1 43886494 43886494 C T exonic SZT2 nonsynonymous SNV SZT2:NM_015284:exon10:c.C1336T:p.P446S 0.2 0.1 0.38 0.082 0.42 0.093 0.3191 0.1332 0.3049 0.0706 0.4026 0.4135 0.3515 0.1548 0.34 0.15 0.42 0.26 . rs2782643 COSM4143983 1(thyroid) Benign not_specified RCV000247399.1 MedGen CN169374 . . . . . . 0.192 0.210 T 0.005 0.119 B 0.006 0.112 B . . . 0.995 0.233 P 0.145 0.088 N . . . -1.82 0.427 N 0.096 0.097 . . . . . . . . . 3.387 0.465 23.0 0.998 0.880 0.747 0.363 D n 1.283 0.048 0.990 0.319 0.707 0.730 0 4.56 0.555 1.446 0.345 0.032 0.150 0.768 0.291 0.998 0.697 10.643 0.446 . ENSG00000159479.12|ENSG00000066056.9|ENSG00000178922.12|ENSG00000159479.12|ENSG00000178922.12|ENSG00000229431.1|ENSG00000178922.12|ENSG00000229431.1|ENSG00000066056.9|ENSG00000066056.9|ENSG00000178922.12|ENSG00000229431.1|ENSG00000159479.12|ENSG00000066056.9|ENSG00000159479.12|ENSG00000229431.1|ENSG00000229431.1|ENSG00000159479.12|ENSG00000159479.12|ENSG00000178922.12|ENSG00000229431.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.3217 0.1306 0.3219 0.4365 0.0661 0.4010 0.4146 0.3683 0.1537 0.2996 0.1354 0.3294 0.4238 0.0543 0.3782 0.3966 0.3429 hom 6891.32 211 1 43886494 . C T 6891.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.090;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9402;MQ=59.09;MQ0=0;MQRankSum=0.747;QD=32.66;ReadPosRankSum=1.338;VQSLOD=9.0168;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,210:211:99:6854,530,0 1 43906896 43906896 A G exonic SZT2 synonymous SNV SZT2:NM_015284:exon52:c.A7185G:p.E2395E 0.2 0.088 0.38 0.082 0.42 0.095 0.3184 0.1210 0.3082 0.0717 0.4029 0.4136 0.3562 0.1560 0.32 0.13 0.41 0.29 0.36 rs2027130 COSM3751218;COSM3751219;COSM3751217 1(large_intestine) Benign not_specified RCV000253624.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3249 0.1151 0.3237 0.4350 0.0664 0.3979 0.4147 0.3699 0.1539 0.2956 0.1217 0.3329 0.4238 0.0543 0.3782 0.3964 0.3378 hom 6724.83 199 1 43906896 . A G 6724.83 Mask AC=2;AF=1.00;AN=2;DP=199;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4481;MQ=59.49;MQ0=0;QD=33.79;VQSLOD=8.6695;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,199:199:99:6724,530,0 1 43917637 43917637 G A exonic HYI synonymous SNV HYI:NM_001190880:exon4:c.C474T:p.D158D,HYI:NM_031207:exon4:c.C474T:p.D158D,HYI:NM_001243526:exon5:c.C549T:p.D183D,HYI:NM_001330526:exon5:c.C549T:p.D183D 0.22 0.19 0.39 0.078 0.42 0.097 0.3291 0.2207 0.3139 0.0694 0.4031 0.4148 0.3666 0.1602 0.35 0.23 0.41 0.3 0.37 rs2251802 COSM3751221;COSM4785149;COSM3751220 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3319 0.2196 0.3293 0.4339 0.0644 0.3977 0.4147 0.3737 0.1550 0.3242 0.2194 0.3389 0.4238 0.0544 0.3782 0.3979 0.3432 hom 1601.82 52 1 43917637 . G A 1601.82 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;QD=30.80;VQSLOD=9.0712;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1635,135,0 1 44035352 44035352 C T exonic PTPRF synonymous SNV PTPRF:NM_001329139:exon6:c.C471T:p.A157A,PTPRF:NM_001329140:exon6:c.C471T:p.A157A,PTPRF:NM_002840:exon6:c.C471T:p.A157A,PTPRF:NM_130440:exon6:c.C471T:p.A157A,PTPRF:NM_001329137:exon7:c.C471T:p.A157A,PTPRF:NM_001329138:exon7:c.C471T:p.A157A 0.22 0.036 0.24 0.29 0.31 0.3 0.2820 0.0738 0.2666 0.3400 0.3424 0.3078 0.2742 0.2660 0.23 0.084 0.31 0.12 0.26 rs1065771 COSM3751223 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2868 0.0678 0.2625 0.2738 0.3423 0.3464 0.3097 0.2866 0.2688 0.2553 0.0671 0.2542 0.2715 0.3550 0.3312 0.3335 0.2971 het 1522.18 99 1 44035352 . C T 1522.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.150;DP=99;Dels=0.00;FS=0.761;HRun=0;HaplotypeScore=1.9883;MQ=59.77;MQ0=0;MQRankSum=-0.039;QD=15.38;ReadPosRankSum=-0.361;VQSLOD=6.5618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,52:99:99:1552,0,1213 1 44058265 44058265 C A exonic PTPRF synonymous SNV PTPRF:NM_001329139:exon11:c.C1806A:p.A602A,PTPRF:NM_001329140:exon11:c.C1806A:p.A602A,PTPRF:NM_002840:exon11:c.C1806A:p.A602A,PTPRF:NM_130440:exon11:c.C1806A:p.A602A,PTPRF:NM_001329137:exon13:c.C1824A:p.A608A,PTPRF:NM_001329138:exon14:c.C1836A:p.A612A 0.45 0.46 0.32 0.56 0.4 0.46 0.4199 0.4642 0.3223 0.5746 0.4258 0.4044 0.4052 0.4424 0.42 0.46 0.4 0.36 0.43 rs3828151 COSM3751224;COSM3751225 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4131 0.4585 0.3233 0.3589 0.5835 0.4362 0.4049 0.3957 0.4231 0.4357 0.4585 0.3337 0.3411 0.5933 0.4138 0.4185 0.4296 het 1213.68 75 1 44058265 . C A 1213.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.429;DP=75;Dels=0.00;FS=1.018;HRun=0;HaplotypeScore=1.8653;MQ=60.00;MQ0=0;MQRankSum=0.319;QD=16.18;ReadPosRankSum=0.178;VQSLOD=6.3688;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,45:75:99:1244,0,763 1 44071221 44071221 G A exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon16:c.G2499A:p.V833V,PTPRF:NM_001329139:exon17:c.G2526A:p.V842V,PTPRF:NM_130440:exon18:c.G3384A:p.V1128V,PTPRF:NM_001329137:exon19:c.G2544A:p.V848V,PTPRF:NM_002840:exon19:c.G3411A:p.V1137V,PTPRF:NM_001329138:exon20:c.G2556A:p.V852V 0.6 0.43 0.54 0.76 0.74 0.58 0.6949 0.4688 0.5015 0.7793 0.7870 0.7712 0.7029 0.5835 0.67 0.47 0.77 0.54 0.7 rs631248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6935 0.4554 0.5133 0.7147 0.7830 0.7944 0.7738 0.7036 0.5859 0.6831 0.4612 0.5431 0.68 0.7877 0.7756 0.7832 0.7418 hom 1875.37 63 1 44071221 . G A 1875.37 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.26;MQ0=0;QD=29.77;VQSLOD=8.3637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1908,162,0 1 44072018 44072018 C T exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon17:c.C2679T:p.T893T,PTPRF:NM_001329139:exon18:c.C2706T:p.T902T,PTPRF:NM_130440:exon19:c.C3564T:p.T1188T,PTPRF:NM_001329137:exon20:c.C2724T:p.T908T,PTPRF:NM_002840:exon20:c.C3591T:p.T1197T,PTPRF:NM_001329138:exon21:c.C2736T:p.T912T 0.28 0.037 0.27 0.47 0.36 0.33 0.3235 0.0817 0.2875 0.4829 0.3924 0.3490 0.3095 0.2882 0.26 0.095 0.35 0.16 0.3 rs1065772 COSM3751227;COSM3751226 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3292 0.0743 0.2826 0.3358 0.4919 0.3953 0.3494 0.3336 0.2920 0.2939 0.0745 0.2816 0.3167 0.4969 0.3818 0.3764 0.3436 het 2672.13 250 1 44072018 . C T 2672.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.677;DP=250;DS;Dels=0.00;FS=4.498;HRun=3;HaplotypeScore=6.5958;MQ=59.39;MQ0=0;MQRankSum=-0.959;QD=10.69;ReadPosRankSum=-0.374;VQSLOD=4.3686;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:145,105:250:99:2702,0,3989 1 44072066 44072066 C T exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon17:c.C2727T:p.P909P,PTPRF:NM_001329139:exon18:c.C2754T:p.P918P,PTPRF:NM_130440:exon19:c.C3612T:p.P1204P,PTPRF:NM_001329137:exon20:c.C2772T:p.P924P,PTPRF:NM_002840:exon20:c.C3639T:p.P1213P,PTPRF:NM_001329138:exon21:c.C2784T:p.P928P 0.28 0.03 0.28 0.47 0.36 0.34 0.3300 0.0782 0.2955 0.4824 0.3837 0.3587 0.3117 0.2971 0.27 0.094 0.36 0.16 0.33 rs10890266 COSM3751228;COSM3751229 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3360 0.0710 0.2940 0.3374 0.4917 0.3861 0.3602 0.341 0.3013 0.2977 0.0715 0.2931 0.3179 0.4988 0.3685 0.3872 0.3520 het 2508.20 244 1 44072066 . C T 2508.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.657;DP=244;DS;Dels=0.00;FS=2.238;HRun=0;HaplotypeScore=11.3624;MQ=59.41;MQ0=0;MQRankSum=-0.614;QD=10.28;ReadPosRankSum=0.277;VQSLOD=3.4700;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:140,102:244:99:2538,0,3680 1 44083507 44083507 T C exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon22:c.T3384C:p.G1128G,PTPRF:NM_001329139:exon24:c.T3444C:p.G1148G,PTPRF:NM_130440:exon24:c.T4269C:p.G1423G,PTPRF:NM_002840:exon25:c.T4296C:p.G1432G,PTPRF:NM_001329137:exon26:c.T3462C:p.G1154G,PTPRF:NM_001329138:exon28:c.T3486C:p.G1162G 0.74 0.95 0.58 0.76 0.72 0.56 0.7188 0.9244 0.5132 0.7858 0.7432 0.7493 0.7135 0.5655 0.81 0.92 0.75 0.74 0.54 rs641365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7084 0.9252 0.5264 0.7099 0.7911 0.7486 0.7506 0.7074 0.5700 0.7974 0.9179 0.5658 0.6556 0.8017 0.7279 0.7631 0.7290 hom 1894.12 65 1 44083507 . T C 1894.12 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=29.14;VQSLOD=8.9142;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1927,162,0 1 44083519 44083519 G A exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon22:c.G3396A:p.R1132R,PTPRF:NM_001329139:exon24:c.G3456A:p.R1152R,PTPRF:NM_130440:exon24:c.G4281A:p.R1427R,PTPRF:NM_002840:exon25:c.G4308A:p.R1436R,PTPRF:NM_001329137:exon26:c.G3474A:p.R1158R,PTPRF:NM_001329138:exon28:c.G3498A:p.R1166R 0.74 0.95 0.58 0.76 0.72 0.56 0.7185 0.9244 0.5125 0.7853 0.7428 0.7491 0.7118 0.5655 0.81 0.92 0.75 0.74 0.52 rs641351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7082 0.9253 0.5264 0.7099 0.7909 0.7484 0.7505 0.7076 0.5700 0.7968 0.9178 0.5644 0.6556 0.8004 0.7275 0.7624 0.7276 hom 2130.37 64 1 44083519 . G A 2130.37 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=60.00;MQ0=0;QD=33.29;VQSLOD=8.9945;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2163,175,0 1 44084739 44084739 C T exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon24:c.C3600T:p.R1200R,PTPRF:NM_001329139:exon26:c.C3660T:p.R1220R,PTPRF:NM_130440:exon26:c.C4485T:p.R1495R,PTPRF:NM_002840:exon27:c.C4512T:p.R1504R,PTPRF:NM_001329137:exon28:c.C3678T:p.R1226R,PTPRF:NM_001329138:exon30:c.C3702T:p.R1234R 0.74 0.95 0.58 0.76 0.72 0.56 0.7192 0.9245 0.5135 0.7866 0.7420 0.7497 0.7137 0.5662 0.81 0.92 0.75 0.75 0.68 rs1143701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7087 0.9251 0.5269 0.7137 0.7913 0.7487 0.7508 0.7083 0.5700 0.7969 0.9179 0.5658 0.6689 0.8011 0.7273 0.7623 0.7285 hom 4826.02 155 1 44084739 . C T 4826.02 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.44;MQ0=0;QD=31.14;VQSLOD=7.3904;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:155:99:4825,388,0 1 44086831 44086831 C T exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon30:c.C4671T:p.Y1557Y,PTPRF:NM_001329139:exon32:c.C4731T:p.Y1577Y,PTPRF:NM_130440:exon32:c.C5556T:p.Y1852Y,PTPRF:NM_002840:exon33:c.C5583T:p.Y1861Y,PTPRF:NM_001329137:exon34:c.C4749T:p.Y1583Y,PTPRF:NM_001329138:exon36:c.C4773T:p.Y1591Y 0.57 0.55 0.5 0.69 0.64 0.45 0.6132 0.5728 0.4670 0.7087 0.6619 0.6689 0.6069 0.4467 0.64 0.58 0.67 0.58 0.55 rs1143702 COSM3773502;COSM3773501 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6103 0.5711 0.4741 0.6517 0.7136 0.6640 0.6694 0.6250 0.4513 0.6435 0.5621 0.4916 0.6067 0.7244 0.6450 0.6927 0.6184 hom 2145.85 66 1 44086831 . C T 2145.85 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.51;VQSLOD=14.1011;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2179,178,0 1 44137257 44137257 C A exonic KDM4A nonsynonymous SNV KDM4A:NM_014663:exon11:c.C1445A:p.A482E 0.74 0.95 0.56 0.79 0.7 0.57 0.7111 0.9262 0.5041 0.8116 0.7344 0.7309 0.6940 0.5758 0.79 0.92 0.73 0.74 0.68 rs586339 COSM4143992 1(breast);2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.615 0.057 N 1.000 0.186 P -0.805 0.016 N 2.59 0.133 T 0.6 0.025 N 0.091 0.089 -0.969 0.374 T 0.000 0.000 T . . . 1.602 0.254 13.86 0.852 0.152 0.145 0.182 N c -0.955 -0.662 0.999 0.397 0.707 0.730 0 4.34 0.511 2.050 0.407 0.242 0.267 0.993 0.376 0.980 0.490 11.697 0.506 . ENSG00000117407.12|ENSG00000117407.12|ENSG00000159214.8 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Whole_Blood 0.6988 0.9278 0.5159 0.6597 0.8165 0.7409 0.7332 0.6877 0.5708 0.7906 0.9216 0.5453 0.5993 0.8309 0.7244 0.7469 0.7296 hom 2844.27 92 1 44137257 . C A 2844.27 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9958;MQ=59.34;MQ0=0;QD=30.92;VQSLOD=9.0788;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2877,226,0 1 44401384 44401384 A G exonic ARTN nonsynonymous SNV ARTN:NM_001136215:exon2:c.A56G:p.Q19R,ARTN:NM_057090:exon3:c.A56G:p.Q19R,ARTN:NM_057091:exon3:c.A56G:p.Q19R 0.84 0.74 0.87 0.83 0.91 0.88 0.8848 0.7664 0.8417 0.8358 0.8767 0.9208 0.8738 0.8732 0.87 0.77 0.92 0.77 0.89 rs2242637 COSM4143993 1(thyroid) . . . . . . . . . . . 0.87 0.026 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -0.115 0.046 N -1.61 0.823 D 0.48 0.031 N 0.045 0.274 -0.963 0.386 T 0.000 0.000 T . . . -0.539 0.053 0.176 0.844 0.147 0.027 0.072 N c -1.116 -0.995 1.000 0.747 0.726 0.872 0 1.91 0.247 -0.113 0.107 0.067 0.174 0.000 0.063 0.830 0.347 5.801 0.176 . ENSG00000117408.6|ENSG00000159214.8|ENSG00000117410.9 Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood|Whole_Blood 0.8861 0.7681 0.8508 0.9270 0.8404 0.8775 0.9215 0.8909 0.8752 0.8672 0.7671 0.8461 0.9205 0.8498 0.8744 0.9252 0.8745 hom 1432.91 48 1 44401384 . A G 1432.91 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.52;MQ0=0;QD=29.85;VQSLOD=8.3578;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1466,114,0 1 44415415 44415415 C T exonic IPO13 synonymous SNV IPO13:NM_014652:exon2:c.C411T:p.D137D 0.51 0.088 0.62 0.62 0.76 0.61 0.6710 0.1844 0.5412 0.6377 0.7867 0.7766 0.6949 0.6108 0.59 0.2 0.79 0.38 0.7 rs2240447 COSM3751231 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6789 0.1780 0.5572 0.6826 0.6442 0.7884 0.7846 0.6893 0.6148 0.6023 0.1883 0.5453 0.6225 0.6502 0.7784 0.7912 0.7337 hom 2736.33 80 1 44415415 . C T 2736.33 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.53;MQ0=0;QD=34.20;VQSLOD=9.3393;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2769,223,0 1 44595113 44595113 G C exonic KLF17 nonsynonymous SNV KLF17:NM_173484:exon2:c.G170C:p.S57T 0.5 0.22 0.52 0.63 0.69 0.51 0.6088 0.2775 0.5101 0.6680 0.6428 0.6719 0.5828 0.5869 0.54 0.3 0.66 0.43 0.69 rs2429051 COSM3751238;COSM3751237 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.229 0.183 T 0.183 0.275 B 0.053 0.243 B 0.653 0.059 N 1 0.090 P 0.895 0.225 L 2.95 0.097 T -0.56 0.170 N 0.034 0.014 -0.990 0.326 T 0.000 0.000 T . . . 0.055 0.099 3.139 0.872 0.165 0.015 0.049 N c -1.454 -1.518 0.000 0.050 0.554 0.283 0 -3.88 0.039 -0.429 0.070 -1.582 0.009 0.000 0.063 0.000 0.016 1.663 0.026 . ENSG00000178028.9 Muscle_Skeletal 0.6052 0.2705 0.5144 0.6368 0.6658 0.6433 0.6724 0.6286 0.5561 0.5598 0.2848 0.5322 0.6074 0.6760 0.6542 0.6823 0.6166 het 1462.70 127 1 44595113 . G C 1462.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.702;DP=127;Dels=0.00;FS=1.461;HRun=1;HaplotypeScore=3.3659;MQ=59.34;MQ0=0;MQRankSum=1.845;QD=11.52;ReadPosRankSum=-0.905;VQSLOD=5.2122;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,56:127:99:1493,0,2026 1 44595410 44595410 A G exonic KLF17 nonsynonymous SNV KLF17:NM_173484:exon2:c.A467G:p.N156S 0.28 0.091 0.26 0.42 0.4 0.26 0.3305 0.1332 0.2827 0.4720 0.325 0.3647 0.3322 0.2782 0.3 0.14 0.37 0.22 0.33 rs2485652 COSM3746971;COSM3746972 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.163 0.031 N 1 0.090 P -0.435 0.028 N 3.17 0.076 T 1.0 0.014 N 0.007 0.000 -0.946 0.417 T 0.000 0.000 T . . . -3.891 0.000 0.001 0.125 0.002 0.001 0.006 N c -2.279 -2.321 0.856 0.251 0.497 0.185 0 -9.27 0.006 -2.130 0.014 -3.135 0.001 0.000 0.063 0.001 0.043 8.585 0.326 . . . 0.3327 0.1308 0.2867 0.3432 0.4669 0.3076 0.3716 0.3523 0.2779 0.3064 0.1354 0.2840 0.3333 0.4608 0.3157 0.3861 0.3340 het 739.02 52 1 44595410 . A G 739.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.037;DP=52;Dels=0.00;FS=7.963;HRun=0;HaplotypeScore=3.1253;MQ=59.56;MQ0=0;MQRankSum=0.256;QD=14.21;ReadPosRankSum=-0.971;VQSLOD=4.8004;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,25:52:99:769,0,834 1 44595426 44595426 G A exonic KLF17 synonymous SNV KLF17:NM_173484:exon2:c.G483A:p.S161S 0.28 0.091 0.26 0.42 0.4 0.26 0.3302 0.1328 0.2803 0.4717 0.3257 0.3646 0.3322 0.2781 0.3 0.14 0.37 0.21 0.32 rs2429050 COSM3746974;COSM3746973 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3323 0.1305 0.2845 0.3432 0.4668 0.3078 0.3715 0.3520 0.2778 0.3061 0.1344 0.2828 0.3333 0.4587 0.3155 0.3866 0.3340 het 850.28 71 1 44595426 . G A 850.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.228;DP=71;Dels=0.00;FS=5.284;HRun=0;HaplotypeScore=8.4525;MQ=58.99;MQ0=0;MQRankSum=0.030;QD=11.98;ReadPosRankSum=-1.128;VQSLOD=4.0340;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:38,32:71:99:880,0,1009 1 44596380 44596382 CAA - exonic KLF17 nonframeshift deletion KLF17:NM_173484:exon3:c.1122_1124del:p.N378del 0.23 0.072 0.27 0.29 0.17 0.41 0.2178 0.0913 0.2910 0.2505 0.2086 0.1850 0.2384 0.3645 0.16 0.1 0.19 . . rs34057178 COSM5713030;COSM5713029 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2235 0.0889 0.2949 0.1469 0.2544 0.2120 0.1875 0.1940 0.3636 0.1668 0.0900 0.2751 0.15 0.2640 0.1997 0.1844 0.2169 het 1674.82 134 1 44596379 . CCAA C 1674.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.264;DP=134;FS=2.875;HRun=0;HaplotypeScore=529.1137;MQ=57.72;MQ0=0;MQRankSum=-0.303;QD=12.50;ReadPosRankSum=0.350;set=variant2 GT:AD:DP:GQ:PL 0/1:89,45:134:99:1714,0,3937 1 45292926 45292926 C G exonic PTCH2 synonymous SNV PTCH2:NM_001166292:exon16:c.G2427C:p.S809S,PTCH2:NM_003738:exon16:c.G2427C:p.S809S 0.0068 0.0008 0.0086 . 0.025 0.002 0.0123 0.0021 0.0092 0.0001 0.0191 0.0177 0.0288 0.0021 0.013 0.0023 0.018 . . rs111471526 . . Benign Gorlin_syndrome RCV000228984.2 MedGen:OMIM:Orphanet:SNOMED_CT C0004779:109400:ORPHA377:69408002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0119 0.0021 0.0081 0.0126 0.0001 0.0184 0.0173 0.0190 0.0020 0.0154 0.0017 0.0036 0.0066 0 0.0195 0.0246 0.0204 het 1750.98 138 1 45292926 . C G 1750.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.481;DP=138;Dels=0.00;FS=0.636;HRun=1;HaplotypeScore=0.7887;MQ=58.51;MQ0=0;MQRankSum=0.657;QD=12.69;ReadPosRankSum=-0.442;VQSLOD=5.3671;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,66:138:99:1781,0,1848 1 45504720 45504720 G C exonic ZSWIM5 synonymous SNV ZSWIM5:NM_020883:exon8:c.C1782G:p.T594T 0.51 0.38 0.43 0.45 0.62 0.69 0.5688 0.3891 0.4217 0.5086 0.6010 0.6008 0.6281 0.664 0.53 0.4 0.6 0.47 0.6 rs7551698 COSM3751251 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5621 0.3854 0.4302 0.6313 0.5020 0.5996 0.5949 0.5738 0.6567 0.5275 0.3891 0.4617 0.6033 0.4981 0.6009 0.5920 0.5951 hom 2671.03 90 1 45504720 . G C 2671.03 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4435;MQ=59.02;MQ0=0;QD=29.68;VQSLOD=7.2293;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:90:99:2704,223,0 1 45795084 45795084 G A exonic MUTYH nonsynonymous SNV MUTYH:NM_001350650:exon15:c.C1115T:p.S372F,MUTYH:NM_001350651:exon15:c.C1115T:p.S372F,MUTYH:NM_001048171:exon16:c.C1502T:p.S501F,MUTYH:NM_001048172:exon16:c.C1463T:p.S488F,MUTYH:NM_001048173:exon16:c.C1460T:p.S487F,MUTYH:NM_001048174:exon16:c.C1460T:p.S487F,MUTYH:NM_001128425:exon16:c.C1544T:p.S515F,MUTYH:NM_001293190:exon16:c.C1505T:p.S502F,MUTYH:NM_001293191:exon16:c.C1493T:p.S498F,MUTYH:NM_001293192:exon16:c.C1184T:p.S395F,MUTYH:NM_001293196:exon16:c.C1184T:p.S395F,MUTYH:NM_012222:exon16:c.C1535T:p.S512F,MUTYH:NM_001293195:exon17:c.C1460T:p.S487F 0.0046 0.0038 0.0086 . 0.008 0.0041 0.0079 0.0078 0.0061 0 0.0051 0.0107 0.0088 0.0030 0.011 0.0082 0.013 0.022 0.0082 rs140118273 COSM5020660 1(soft_tissue) Benign|other|Benign|Benign not_provided|MYH-associated_polyposis|not_specified|Hereditary_cancer-predisposing_syndrome RCV000034672.3|RCV000119200.4|RCV000121601.3|RCV000132436.5 MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen:SNOMED_CT CN221809|C1837991:608456:ORPHA247798|CN169374|C0027672:699346009 . . . . . . 0.014 0.531 D 0.908 0.481 P 0.351 0.411 B 0.638 0.106 N 1 0.090 N 1.1 0.281 L -0.34 0.685 T -2.03 0.466 N 0.109 0.298 -0.963 0.387 T 0.131 0.442 T . . . 2.095 0.313 16.82 0.944 0.243 0.068 0.127 N c -0.997 -1.026 1.000 0.747 0.731 0.878 0 0.173 0.143 1.756 0.378 -0.253 0.089 0.106 0.227 0.089 0.185 6.802 0.228 MutY\x2c C-terminal|NUDIX hydrolase domain|NUDIX hydrolase domain-like;NUDIX hydrolase domain-like . . 0.0084 0.0075 0.0067 0.0240 0 0.0047 0.0111 0.0119 0.0028 0.0081 0.0091 0.0072 0.0265 0 0.0043 0.0091 0.0051 het 2642.58 211 1 45795084 . G A 2642.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.717;DP=211;Dels=0.00;FS=3.986;HRun=1;HaplotypeScore=5.1087;MQ=58.68;MQ0=0;MQRankSum=1.156;QD=12.52;ReadPosRankSum=-0.150;VQSLOD=3.4845;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:113,98:211:99:2673,0,2823 1 45797505 45797505 C G exonic MUTYH nonsynonymous SNV MUTYH:NM_001350650:exon11:c.G585C:p.Q195H,MUTYH:NM_001350651:exon11:c.G585C:p.Q195H,MUTYH:NM_001048171:exon12:c.G972C:p.Q324H,MUTYH:NM_001048172:exon12:c.G933C:p.Q311H,MUTYH:NM_001048173:exon12:c.G930C:p.Q310H,MUTYH:NM_001048174:exon12:c.G930C:p.Q310H,MUTYH:NM_001128425:exon12:c.G1014C:p.Q338H,MUTYH:NM_001293190:exon12:c.G975C:p.Q325H,MUTYH:NM_001293191:exon12:c.G963C:p.Q321H,MUTYH:NM_001293192:exon12:c.G654C:p.Q218H,MUTYH:NM_001293196:exon12:c.G654C:p.Q218H,MUTYH:NM_012222:exon12:c.G1005C:p.Q335H,MUTYH:NM_001293195:exon13:c.G930C:p.Q310H 0.31 0.26 0.48 0.39 0.24 0.26 0.2967 0.2846 0.5312 0.4303 0.2429 0.2600 0.3011 0.2448 0.25 0.26 0.25 0.35 0.13 rs3219489 COSM3751252 1(haematopoietic_and_lymphoid_tissue);19(soft_tissue);1(large_intestine) Benign|Benign|Benign|Benign|Benign not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Carcinoma_of_colon|MYH-associated_polyposis RCV000034684.1|RCV000079500.6|RCV000131427.2|RCV000144634.1|RCV000299432.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet CN221809|CN169374|C0027672:699346009|C0699790:114500:269533000|C1837991:608456:ORPHA247798 . . . . . . 0.168 0.284 T 0.343 0.386 B 0.086 0.342 B 0.038 0.243 N 0.743 0.588 P 2.665 0.782 M 3.23 0.229 T -1.03 0.270 N 0.056 0.088 -0.933 0.437 T 0.000 0.000 T . . . 0.336 0.126 6.039 0.797 0.124 0.147 0.184 N c -0.583 -0.613 0.998 0.361 0.732 0.924 0 1.26 0.204 -0.265 0.086 0.935 0.490 0.000 0.063 0.732 0.317 2.473 0.043 DNA glycosylase|Helix-turn-helix\x2c base-excision DNA repair\x2c C-terminal ENSG00000117450.9|ENSG00000117450.9|ENSG00000117450.9|ENSG00000236624.4|ENSG00000236624.4|ENSG00000117450.9|ENSG00000236624.4|ENSG00000070759.12|ENSG00000117450.9|ENSG00000236624.4|ENSG00000070759.12 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Lung|Skin_Not_Sun_Exposed_Suprapubic|Testis|Thyroid|Whole_Blood|Whole_Blood 0.2891 0.2621 0.4876 0.2641 0.3969 0.2202 0.2446 0.2963 0.2371 0.2584 0.2696 0.4353 0.3013 0.4143 0.2278 0.2327 0.2382 hom 382.83 11 1 45797505 . C G 382.83 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.80;VQSLOD=12.4592;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:416,33,0 1 46032307 46032307 G A exonic AKR1A1 nonsynonymous SNV AKR1A1:NM_153326:exon3:c.G151A:p.G51S,AKR1A1:NM_001202413:exon4:c.G151A:p.G51S,AKR1A1:NM_006066:exon4:c.G151A:p.G51S,AKR1A1:NM_001202414:exon5:c.G151A:p.G51S 0.004 . 0.0043 . 0.011 0.0061 0.0071 0.0015 0.0037 0 0.0095 0.0100 0.0033 0.0041 0.0068 0.0007 0.0099 . . rs61751012 . . . . . . . . . . . . . 0.223 0.187 T 0.075 0.227 B 0.097 0.288 B 0.000 0.473 N 1.000 0.490 D 2.66 0.781 M 0.81 0.485 T -2.91 0.698 D 0.34 0.401 -0.914 0.464 T 0.118 0.415 T . . . 2.978 0.418 22.2 0.988 0.457 0.961 0.674 D c 0.170 0.299 0.997 0.356 0.672 0.522 0 5.21 0.719 5.555 0.668 1.048 0.713 1.000 0.715 0.998 0.697 8.333 0.312 Aldo/keto reductase\x2c conserved site|NADP-dependent oxidoreductase domain . . 0.0069 0.0018 0.0052 0.0038 5.798e-05 0.0074 0.0101 0.0086 0.0041 0.0068 0.0017 0.0048 0 0 0.0074 0.0107 0.0071 het 2067.27 189 1 46032307 . G A 2067.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.477;DP=189;Dels=0.00;FS=3.365;HRun=0;HaplotypeScore=1.8924;MQ=59.25;MQ0=0;MQRankSum=-1.568;QD=10.94;ReadPosRankSum=1.126;VQSLOD=5.2333;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,82:189:99:2097,0,2749 1 46078854 46078854 A G exonic NASP synonymous SNV NASP:NM_001195193:exon5:c.A1248G:p.S416S,NASP:NM_152298:exon6:c.A423G:p.S141S,NASP:NM_002482:exon7:c.A1440G:p.S480S 0.68 0.73 0.65 0.66 0.72 0.61 0.6993 0.7540 0.6591 0.6344 0.7739 0.7087 0.7122 0.6582 0.72 0.75 0.7 0.61 0.71 rs2230658 COSM3746978;COSM3746977 1(haematopoietic_and_lymphoid_tissue);1(liver);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6987 0.7589 0.6664 0.7175 0.6422 0.7669 0.7058 0.6967 0.6514 0.7244 0.7589 0.6635 0.7285 0.6125 0.7627 0.7112 0.7168 het 476.10 76 1 46078854 . A G 476.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.782;DP=76;Dels=0.00;FS=1.043;HRun=1;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;MQRankSum=0.418;QD=6.26;ReadPosRankSum=-1.105;VQSLOD=5.1569;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,22:76:99:506,0,1516 1 46078884 46078884 C T exonic NASP synonymous SNV NASP:NM_001195193:exon5:c.C1278T:p.T426T,NASP:NM_152298:exon6:c.C453T:p.T151T,NASP:NM_002482:exon7:c.C1470T:p.T490T 0.68 0.73 0.65 0.66 0.72 0.61 0.6996 0.7516 0.6582 0.6348 0.7743 0.7095 0.7168 0.6590 0.72 0.75 0.7 0.61 0.72 rs2230659 COSM3746979;COSM3746980 1(haematopoietic_and_lymphoid_tissue);1(liver);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7012 0.7574 0.6718 0.7216 0.6441 0.7681 0.7079 0.6991 0.6567 0.7234 0.7548 0.6623 0.7285 0.6100 0.7627 0.7118 0.7194 het 927.15 100 1 46078884 . C T 927.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.467;DP=100;Dels=0.00;FS=10.241;HRun=0;HaplotypeScore=1.5115;MQ=59.58;MQ0=0;MQRankSum=0.225;QD=9.27;ReadPosRankSum=0.542;VQSLOD=3.6170;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,37:100:99:957,0,1461 1 46086077 46086077 C T exonic CCDC17 nonsynonymous SNV CCDC17:NM_001114938:exon13:c.G1739A:p.S580N,CCDC17:NM_001190182:exon13:c.G1712A:p.S571N 0.69 0.73 0.65 0.69 0.72 0.61 0.7094 0.75 0.6668 0.6771 0.7828 0.7159 0.7254 0.6696 0.72 0.74 0.71 0.64 . rs3014246 COSM3746981;COSM3746982 1(liver) . . . . . . . . . . . 0.421 0.099 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P -0.345 0.033 N 2.25 0.535 T -0.77 0.214 N 0.007 0.000 -0.917 0.460 T 0.000 0.000 T . . . -0.328 0.066 0.573 0.622 0.067 0.020 0.061 N c -1.231 -1.294 1.000 0.517 0.490 0.173 0 -0.827 0.102 -0.292 0.083 -0.563 0.046 0.006 0.172 0.000 0.016 6.069 0.190 . ENSG00000159592.6|ENSG00000086015.16|ENSG00000086015.16|ENSG00000117450.9|ENSG00000086015.16|ENSG00000117450.9|ENSG00000197429.6|ENSG00000159592.6|ENSG00000197429.6|ENSG00000159588.10|ENSG00000159592.6|ENSG00000234329.1|ENSG00000159592.6|ENSG00000117450.9|ENSG00000086015.16 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.6987 0.7475 0.6641 0.7053 0.6681 0.7721 0.7021 0.6996 0.6482 0.7275 0.7536 0.6671 0.7252 0.6366 0.7723 0.7154 0.7219 het 97.55 21 1 46086077 . C T 97.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.362;DP=21;Dels=0.00;FS=2.046;HRun=1;HaplotypeScore=0.9665;MQ=59.11;MQ0=0;MQRankSum=0.124;QD=4.65;ReadPosRankSum=0.454;VQSLOD=4.3307;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,5:21:99:128,0,491 1 46094027 46094027 A G exonic GPBP1L1 synonymous SNV GPBP1L1:NM_021639:exon13:c.T1326C:p.S442S 0.32 0.26 0.35 0.35 0.28 0.4 0.3009 0.2469 0.3391 0.3683 0.2250 0.2898 0.2841 0.3493 0.28 0.25 0.29 0.35 0.2 rs1250 COSM146499 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3008 0.2442 0.3258 0.2880 0.3578 0.2326 0.2925 0.3006 0.3531 0.2772 0.2466 0.3329 0.2781 0.3916 0.2358 0.2890 0.2816 het 2628.25 219 1 46094027 . A G 2628.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.345;DP=219;DS;Dels=0.00;FS=1.824;HRun=1;HaplotypeScore=8.2794;MQ=59.41;MQ0=0;MQRankSum=-0.580;QD=12.00;ReadPosRankSum=-1.801;VQSLOD=4.0138;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,102:219:99:2658,0,3064 1 46095272 46095272 T C exonic GPBP1L1 synonymous SNV GPBP1L1:NM_021639:exon12:c.A1248G:p.K416K 0.32 0.27 0.35 0.32 0.28 0.41 0.3049 0.2471 0.3386 0.3464 0.2623 0.2939 0.2941 0.3584 0.28 0.25 0.3 0.36 0.21 rs1135812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3054 0.2429 0.3263 0.2954 0.3403 0.2662 0.2954 0.3069 0.3617 0.2817 0.2435 0.3329 0.2781 0.3781 0.2659 0.2937 0.2924 het 1974.57 132 1 46095272 . T C 1974.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.557;DP=132;Dels=0.00;FS=2.583;HRun=1;HaplotypeScore=0.6651;MQ=59.37;MQ0=0;MQRankSum=-0.849;QD=14.96;ReadPosRankSum=0.997;VQSLOD=5.9850;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,78:132:99:2005,0,1429 1 46195375 46195375 T C exonic IPP nonsynonymous SNV IPP:NM_001145349:exon4:c.A791G:p.K264R,IPP:NM_005897:exon4:c.A791G:p.K264R 0.31 0.25 0.35 0.31 0.28 0.41 0.3040 0.2406 0.3380 0.3433 0.2617 0.2933 0.2958 0.3603 0.28 0.25 0.3 0.36 0.17 rs28375469 COSM3751253;COSM146501 1(breast);1(stomach);1(skin);1(prostate);1(large_intestine) . . . . . . . . . . . 0.221 0.192 T 0.003 0.126 B 0.002 0.104 B 0.000 0.523 D 0.000 0.497 P 0.55 0.145 N -0.63 0.740 T -0.47 0.176 N 0.205 0.251 -1.089 0.057 T 0.000 0.000 T . . . 1.993 0.300 16.17 0.997 0.795 0.982 0.804 D c -0.079 0.151 1.000 0.747 0.706 0.609 0 5.81 0.924 7.603 0.819 1.058 0.762 1.000 0.715 0.992 0.562 16.167 0.815 . ENSG00000159592.6|ENSG00000086015.16|ENSG00000086015.16|ENSG00000117450.9|ENSG00000086015.16|ENSG00000117450.9|ENSG00000197429.6|ENSG00000159592.6|ENSG00000197429.6|ENSG00000159588.10|ENSG00000159588.10|ENSG00000234329.1|ENSG00000159592.6|ENSG00000159592.6|ENSG00000117450.9|ENSG00000086015.16 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Whole_Blood 0.3038 0.2359 0.3237 0.2859 0.3379 0.2660 0.2950 0.3059 0.3617 0.2800 0.2369 0.3341 0.2715 0.3779 0.2668 0.2940 0.2914 het 1250.61 108 1 46195375 . T C 1250.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.872;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8305;MQ=59.44;MQ0=0;MQRankSum=1.500;QD=11.58;ReadPosRankSum=-0.120;VQSLOD=6.5380;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,50:108:99:1281,0,1449 1 46476587 46476587 T G exonic MAST2 nonsynonymous SNV MAST2:NM_001319245:exon10:c.T1164G:p.D388E,MAST2:NM_001324321:exon10:c.T702G:p.D234E,MAST2:NM_015112:exon10:c.T1164G:p.D388E,MAST2:NM_001324320:exon11:c.T1185G:p.D395E 0.87 0.92 0.87 0.98 0.72 0.86 0.7924 0.8887 0.8965 0.9823 0.6864 0.7378 0.7567 0.8284 0.79 0.89 0.74 0.85 0.71 rs11211247 COSM1343092;COSM5653785 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.000 0.843 N 1.000 0.810 P -1.32 0.007 N 1.87 0.241 T 2.01 0.005 N 0.107 0.114 -0.982 0.345 T 0.000 0.000 T . . . -0.057 0.088 2.070 0.215 0.008 0.382 0.257 N c -1.135 -0.870 0.005 0.110 0.707 0.730 0 2.69 0.308 1.068 0.300 -0.348 0.070 1.000 0.715 0.997 0.653 5.815 0.176 Microtubule-associated serine/threonine-protein kinase\x2c domain|Microtubule-associated serine/threonine-protein kinase\x2c pre-PK domain ENSG00000236624.4|ENSG00000132763.10|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000086015.16|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000159596.6|ENSG00000236624.4|ENSG00000086015.16|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000086015.16|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000086015.16|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000117450.9|ENSG00000236624.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.7930 0.8869 0.8877 0.7765 0.9791 0.6930 0.735 0.7874 0.8273 0.7898 0.8817 0.8568 0.82 0.9827 0.6976 0.7357 0.7413 het 813 62 1 46476587 . T G 813 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.619;DP=62;Dels=0.00;FS=0.990;HRun=0;HaplotypeScore=0.0000;MQ=57.27;MQ0=0;MQRankSum=-1.305;QD=13.11;ReadPosRankSum=-0.535;VQSLOD=4.1529;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,36:62:99:843,0,563 1 46496709 46496709 A G exonic MAST2 synonymous SNV MAST2:NM_001319245:exon23:c.A2739G:p.S913S,MAST2:NM_001324321:exon23:c.A2277G:p.S759S,MAST2:NM_015112:exon23:c.A2739G:p.S913S,MAST2:NM_001324320:exon24:c.A2760G:p.S920S 0.64 0.58 0.63 0.7 0.74 0.59 0.6908 0.6040 0.6598 0.6837 0.7475 0.7159 0.7093 0.6423 0.69 0.63 0.72 0.58 0.76 rs925524 COSM3746985 1(liver);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6906 0.6007 0.6665 0.6981 0.6858 0.7414 0.7146 0.6964 0.6378 0.6786 0.5957 0.6603 0.7185 0.6473 0.7441 0.7132 0.7049 het 854.92 75 1 46496709 . A G 854.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.679;DP=75;Dels=0.00;FS=1.962;HRun=0;HaplotypeScore=1.9552;MQ=58.23;MQ0=0;MQRankSum=-0.039;QD=11.40;ReadPosRankSum=0.215;VQSLOD=5.0464;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,37:75:99:885,0,938 1 46498375 46498375 A G exonic MAST2 synonymous SNV MAST2:NM_001319245:exon26:c.A3522G:p.V1174V,MAST2:NM_001324321:exon26:c.A3060G:p.V1020V,MAST2:NM_015112:exon26:c.A3522G:p.V1174V,MAST2:NM_001324320:exon27:c.A3543G:p.V1181V 0.69 0.75 0.64 0.71 0.73 0.56 0.6971 0.7560 0.6570 0.6883 0.7457 0.7104 0.7042 0.6192 0.72 0.75 0.71 0.64 0.8 rs1622208 COSM3746986 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.810 P . . . . . . . . . . . . . . . . . . . . 0.290 0.122 5.597 0.796 0.124 0.271 0.230 N n 1.170 0.222 0.990 0.319 0.707 0.730 0 0.936 0.185 2.025 0.404 -0.272 0.086 1.000 0.715 0.997 0.653 6.79 0.227 . ENSG00000086015.16|ENSG00000086015.16|ENSG00000117450.9|ENSG00000086015.16|ENSG00000117450.9|ENSG00000197429.6|ENSG00000159592.6|ENSG00000159588.10|ENSG00000159588.10|ENSG00000234329.1|ENSG00000159588.10|ENSG00000086015.16|ENSG00000159592.6|ENSG00000117450.9 Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid 0.6960 0.7546 0.6691 0.7141 0.6925 0.7403 0.7091 0.6949 0.6130 0.7206 0.7498 0.6627 0.7119 0.6545 0.7418 0.7099 0.7105 het 1647.58 139 1 46498375 . A G 1647.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.730;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6404;MQ=58.33;MQ0=0;MQRankSum=1.771;QD=11.85;ReadPosRankSum=0.626;VQSLOD=5.0132;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,61:139:99:1678,0,2075 1 46500613 46500613 T C exonic MAST2 synonymous SNV MAST2:NM_001319245:exon29:c.T4269C:p.T1423T,MAST2:NM_001324321:exon29:c.T3810C:p.T1270T,MAST2:NM_015112:exon29:c.T4272C:p.T1424T,MAST2:NM_001324320:exon30:c.T4293C:p.T1431T 0.12 0.047 0.13 0.015 0.28 0.14 0.2065 0.0814 0.1006 0.0177 0.3138 0.2644 0.2427 0.1733 0.2 0.082 0.26 0.11 0.28 rs17855317 COSM426374 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2050 0.0795 0.1097 0.2226 0.0209 0.3074 0.2655 0.2115 0.1739 0.2016 0.0861 0.1420 0.1788 0.0173 0.3025 0.2654 0.2602 het 2799.78 207 1 46500613 . T C 2799.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.997;DP=207;DS;Dels=0.00;FS=5.021;HRun=1;HaplotypeScore=7.2927;MQ=59.13;MQ0=0;MQRankSum=2.000;QD=13.46;ReadPosRankSum=0.858;VQSLOD=4.0369;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,101:207:99:2830,0,2793 1 46521517 46521517 G A exonic LOC110117498-PIK3R3;PIK3R3 synonymous SNV PIK3R3:NM_001328654:exon5:c.C423T:p.S141S,PIK3R3:NM_001328653:exon6:c.C648T:p.S216S,LOC110117498-PIK3R3:NM_001303427:exon7:c.C1029T:p.S343S,PIK3R3:NM_001328648:exon7:c.C759T:p.S253S,PIK3R3:NM_001328649:exon7:c.C759T:p.S253S,PIK3R3:NM_001328650:exon7:c.C759T:p.S253S,PIK3R3:NM_001328651:exon7:c.C759T:p.S253S,PIK3R3:NM_001328652:exon7:c.C891T:p.S297S,PIK3R3:NM_003629:exon7:c.C891T:p.S297S,PIK3R3:NM_001114172:exon8:c.C891T:p.S297S,PIK3R3:NM_001303428:exon8:c.C942T:p.S314S 0.64 0.59 0.63 0.69 0.73 0.56 0.6810 0.6028 0.6491 0.6729 0.7455 0.7092 0.6976 0.6156 0.67 0.6 0.71 0.59 0.8 rs785468 COSM3746987 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6823 0.6026 0.6585 0.7062 0.6757 0.7388 0.7077 0.6832 0.6109 0.6766 0.5981 0.6487 0.7086 0.645 0.7415 0.7094 0.7047 het 1550.72 165 1 46521517 . G A 1550.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.350;DP=165;Dels=0.00;FS=2.822;HRun=0;HaplotypeScore=6.7552;MQ=58.87;MQ0=0;MQRankSum=-0.565;QD=9.40;ReadPosRankSum=-0.605;VQSLOD=4.3815;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,70:165:99:1581,0,2450 1 46521559 46521559 A T exonic LOC110117498-PIK3R3;PIK3R3 nonsynonymous SNV PIK3R3:NM_001328654:exon5:c.T381A:p.N127K,PIK3R3:NM_001328653:exon6:c.T606A:p.N202K,LOC110117498-PIK3R3:NM_001303427:exon7:c.T987A:p.N329K,PIK3R3:NM_001328648:exon7:c.T717A:p.N239K,PIK3R3:NM_001328649:exon7:c.T717A:p.N239K,PIK3R3:NM_001328650:exon7:c.T717A:p.N239K,PIK3R3:NM_001328651:exon7:c.T717A:p.N239K,PIK3R3:NM_001328652:exon7:c.T849A:p.N283K,PIK3R3:NM_003629:exon7:c.T849A:p.N283K,PIK3R3:NM_001114172:exon8:c.T849A:p.N283K,PIK3R3:NM_001303428:exon8:c.T900A:p.N300K 0.68 0.75 0.64 0.69 0.73 0.56 0.6940 0.7478 0.6556 0.6723 0.7453 0.7097 0.7048 0.6137 0.72 0.74 0.71 0.63 0.8 rs785467 COSM3735974 1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.843 N 0.999 0.810 P -1.725 0.003 N 1.75 0.262 T 1.03 0.014 N 0.02 0.029 -0.960 0.391 T 0.000 0.000 T . . . 0.729 0.163 9.016 0.543 0.050 0.380 0.257 N c -0.898 -0.598 0.228 0.184 0.732 0.924 0 3.95 0.448 1.163 0.312 0.152 0.238 1.000 0.715 0.999 0.750 6.246 0.199 PI3K p85 subunit\x2c inter-SH2 domain ENSG00000086015.16|ENSG00000086015.16|ENSG00000117450.9|ENSG00000086015.16|ENSG00000117450.9|ENSG00000197429.6|ENSG00000159592.6|ENSG00000159588.10|ENSG00000159588.10|ENSG00000234329.1|ENSG00000159588.10|ENSG00000086015.16|ENSG00000159592.6|ENSG00000117450.9 Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid 0.6937 0.7486 0.6673 0.7099 0.6768 0.7397 0.7087 0.6916 0.6122 0.7188 0.7464 0.6599 0.7086 0.6461 0.7414 0.7095 0.7100 het 1360.79 122 1 46521559 . A T 1360.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.941;DP=122;Dels=0.00;FS=3.455;HRun=2;HaplotypeScore=3.4429;MQ=59.34;MQ0=0;MQRankSum=0.668;QD=11.15;ReadPosRankSum=-0.384;VQSLOD=5.7766;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,54:122:99:1391,0,1794 1 46655158 46655158 T C exonic POMGNT1 nonsynonymous SNV POMGNT1:NM_001290129:exon20:c.A1801G:p.M601V,POMGNT1:NM_001290130:exon20:c.A1438G:p.M480V,POMGNT1:NM_001243766:exon21:c.A1867G:p.M623V,POMGNT1:NM_017739:exon21:c.A1867G:p.M623V 0.94 0.79 0.99 1. 1. 1. 0.9838 0.8219 0.9926 1 1 0.9997 0.9911 0.9998 0.94 0.83 1. 0.92 0.93 rs6659553 . . Benign not_specified RCV000153758.3 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.999 0.810 P -0.625 0.021 N -1.76 0.836 D 1.3 0.010 N 0.046 0.486 -0.926 0.448 T 0.000 0.000 T . . . 0.266 0.120 5.360 0.858 0.156 0.183 0.200 N c -0.667 -0.308 1.000 0.747 0.732 0.924 0 5.92 0.955 5.829 0.688 0.069 0.176 1.000 0.715 0.998 0.697 15.028 0.712 Nucleotide-diphospho-sugar transferases . . 0.9872 0.8176 0.9912 0.9998 1 1 0.9996 0.9952 0.9997 0.9486 0.8207 0.9881 1 1 1 0.9995 0.9898 hom 1101.09 35 1 46655158 . T C 1101.09 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.46;VQSLOD=13.9330;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:90.28:1134,90,0 1 46810530 46810530 A G exonic NSUN4 nonsynonymous SNV NSUN4:NM_001256127:exon2:c.A4G:p.T2A,NSUN4:NM_001256128:exon2:c.A4G:p.T2A,NSUN4:NM_199044:exon2:c.A151G:p.T51A 0.3 0.14 0.36 0.52 0.34 0.23 0.3227 0.1716 0.4057 0.4855 0.3136 0.3288 0.3436 0.2525 0.28 0.18 0.33 0.24 0.37 rs3737744 COSM3746988 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 0.336 0.330 T 0.004 0.112 B 0.005 0.104 B 0.000 0.497 D 0.005 0.450 P 2.14 0.601 M 2.54 0.144 T -1.39 0.344 N 0.097 0.308 -0.912 0.466 T 0.000 0.000 T . . . 2.074 0.310 16.69 0.989 0.485 0.932 0.572 D c -0.061 0.131 1.000 0.747 0.707 0.730 0 5.45 0.796 5.674 0.676 1.199 0.960 1.000 0.715 1.000 0.888 15.186 0.726 . ENSG00000085999.7|ENSG00000117481.6|ENSG00000117481.6|ENSG00000117481.6|ENSG00000117480.11|ENSG00000117481.6 Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Muscularis|Muscle_Skeletal|Testis|Thyroid|Whole_Blood 0.3335 0.1693 0.4074 0.4777 0.4945 0.3136 0.3224 0.3488 0.2500 0.2888 0.1584 0.3663 0.5066 0.4746 0.3054 0.3318 0.2910 het 3057.41 245 1 46810530 . A G 3057.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.942;DP=245;DS;Dels=0.00;FS=1.581;HRun=1;HaplotypeScore=5.4935;MQ=59.21;MQ0=0;MQRankSum=-1.023;QD=12.48;ReadPosRankSum=-2.008;VQSLOD=4.3213;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,119:245:99:3087,0,3258 1 46827456 46827456 A G exonic NSUN4 nonsynonymous SNV NSUN4:NM_001256127:exon6:c.A946G:p.I316V,NSUN4:NM_001256128:exon6:c.A946G:p.I316V,NSUN4:NM_199044:exon6:c.A1093G:p.I365V 0.2 0.055 0.13 0.28 0.15 0.44 0.1716 0.0640 0.1119 0.3160 0.0909 0.1326 0.1949 0.3945 0.11 0.064 0.13 0.14 0.11 rs9865 COSM3997560 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.499 0.103 T 0.001 0.067 B 0.002 0.093 B 0.003 0.352 N 0.226 0.342 P 1.175 0.300 L 3.02 0.090 T -0.5 0.166 N 0.06 0.077 -0.906 0.474 T 0.000 0.000 T . . . 0.870 0.177 9.889 0.953 0.260 0.768 0.374 D c -0.321 -0.155 0.030 0.140 0.719 0.830 0 3.01 0.337 1.226 0.320 1.199 0.960 0.993 0.376 1.000 0.888 6.612 0.218 S-adenosyl-L-methionine-dependent methyltransferase|SAM-dependent methyltransferase RsmB/NOP2-type ENSG00000117480.11|ENSG00000117480.11 Artery_Tibial|Cells_Transformed_fibroblasts 0.1664 0.0637 0.1056 0.1340 0.3127 0.0929 0.1322 0.1548 0.3919 0.1172 0.0652 0.1026 0.1258 0.3242 0.1053 0.1261 0.1548 het 2224.04 147 1 46827456 . A G 2224.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.497;DP=147;Dels=0.00;FS=1.994;HRun=0;HaplotypeScore=2.4304;MQ=59.59;MQ0=0;MQRankSum=1.997;QD=15.13;ReadPosRankSum=-0.157;VQSLOD=6.0105;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,78:147:99:2254,0,1854 1 46871986 46871986 T C exonic FAAH synonymous SNV FAAH:NM_001441:exon7:c.T897C:p.C299C 0.88 0.86 0.93 0.99 0.85 0.81 0.8593 0.8552 0.9316 0.9979 0.9251 0.8407 0.8606 0.7871 0.84 0.85 0.84 0.91 0.79 rs324419 COSM3746989 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8649 0.8555 0.9309 0.8390 0.9976 0.9245 0.8383 0.8631 0.7852 0.8703 0.8558 0.9258 0.8377 0.9994 0.9147 0.8523 0.8625 hom 4388.10 144 1 46871986 . T C 4388.10 Mask AC=2;AF=1.00;AN=2;DP=144;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5401;MQ=59.29;MQ0=0;QD=30.47;VQSLOD=7.7328;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4387,385,0 1 46976837 46976837 C T exonic DMBX1 synonymous SNV DMBX1:NM_147192:exon3:c.C579T:p.P193P,DMBX1:NM_172225:exon3:c.C564T:p.P188P 0.18 0.029 0.36 0.011 0.4 0.19 0.3308 0.0842 0.3507 0.0061 0.3787 0.4329 0.3452 0.2056 0.32 0.095 0.44 0.16 0.38 rs1886116 COSM4144043 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3347 0.0742 0.3577 0.4288 0.0056 0.3712 0.4341 0.3708 0.2068 0.3013 0.0766 0.3747 0.4503 0.0074 0.3794 0.4363 0.3395 het 1360.77 76 1 46976837 . C T 1360.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.781;DP=76;Dels=0.00;FS=7.400;HRun=0;HaplotypeScore=2.8924;MQ=59.20;MQ0=0;MQRankSum=0.351;QD=17.90;ReadPosRankSum=-0.652;VQSLOD=4.0288;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,47:76:99:1391,0,626 1 47078637 47078637 T C exonic MOB3C synonymous SNV MOB3C:NM_145279:exon2:c.A513G:p.A171A,MOB3C:NM_201403:exon2:c.A357G:p.A119A 0.67 0.58 0.57 0.96 0.5 0.76 0.5853 0.5737 0.5868 0.9456 0.5508 0.4998 0.5758 0.7740 0.51 0.57 0.48 0.7 0.37 rs4660947 COSM4144047;COSM4144048 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5823 0.5707 0.5775 0.5136 0.9461 0.5534 0.4916 0.5525 0.7592 0.5481 0.5651 0.5716 0.5132 0.9364 0.5539 0.4926 0.5716 het 1157.51 116 1 47078637 . T C 1157.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.001;DP=116;Dels=0.00;FS=3.451;HRun=0;HaplotypeScore=6.8217;MQ=58.34;MQ0=0;MQRankSum=0.751;QD=9.98;ReadPosRankSum=0.043;VQSLOD=4.3921;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,48:116:99:1188,0,1919 1 47080679 47080679 G A exonic MOB3C stopgain MOB3C:NM_145279:exon1:c.C70T:p.R24X 0.64 0.56 0.52 0.93 0.48 0.71 0.5572 0.5558 0.5250 0.9168 0.5020 0.4805 0.5529 0.7249 0.5 0.56 0.47 0.69 0.41 rs6671527 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.588 P . . . . . . . . . . . . . . . . . . . . 6.368 0.879 29.5 0.994 0.613 0.001 0.007 N c -0.060 -0.439 1.000 0.428 0.493 0.174 0 2.2 0.268 -0.300 0.082 -0.770 0.033 0.000 0.063 0.008 0.104 5.311 0.150 . ENSG00000079277.15|ENSG00000079277.15|ENSG00000269956.1|ENSG00000142961.10|ENSG00000079277.15|ENSG00000142961.10|ENSG00000269956.1 Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Whole_Blood|Whole_Blood|Whole_Blood 0.5535 0.5540 0.5194 0.5072 0.9158 0.5055 0.4764 0.5278 0.7213 0.5269 0.5461 0.5143 0.4967 0.9116 0.5032 0.4802 0.5370 het 852.75 72 1 47080679 . G A 852.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.473;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.36;MQ0=0;MQRankSum=-0.631;QD=11.84;ReadPosRankSum=-0.034;VQSLOD=6.7872;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,35:72:99:883,0,867 1 47279175 47279175 C T exonic CYP4B1 nonsynonymous SNV CYP4B1:NM_001319162:exon3:c.C28T:p.R10W,CYP4B1:NM_001319163:exon3:c.C28T:p.R10W,CYP4B1:NM_001319161:exon4:c.C472T:p.R158W,CYP4B1:NM_000779:exon5:c.C517T:p.R173W,CYP4B1:NM_001099772:exon5:c.C517T:p.R173W 0.18 0.2 0.11 0.21 0.14 0.23 0.1498 0.1845 0.1220 0.1921 0.1032 0.1205 0.1322 0.2634 0.15 0.19 0.13 0.12 0.24 rs4646487 COSM3746991 1(liver) . . . . . . . . . . . 0.01 0.586 D 0.991 0.715 D 0.394 0.568 B 0.167 0.031 N 1.000 0.090 P 2.08 0.576 M -0.37 0.689 T -1.75 0.526 N 0.091 0.383 -1.098 0.043 T 0.001 0.003 T . . . 5.046 0.679 25.2 0.998 0.894 0.105 0.158 N c -0.317 -0.481 0.000 0.038 0.554 0.246 0 0.775 0.176 0.973 0.288 -0.027 0.127 0.191 0.240 0.361 0.248 5.297 0.150 . . . 0.1487 0.1900 0.1247 0.1055 0.1962 0.1131 0.1237 0.1215 0.2625 0.1445 0.1886 0.1301 0.1093 0.1963 0.1113 0.1229 0.1388 het 1557.01 107 1 47279175 . C T 1557.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.475;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4324;MQ=59.42;MQ0=0;MQRankSum=2.058;QD=14.55;ReadPosRankSum=-0.767;VQSLOD=5.6269;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,59:107:99:1587,0,1232 1 47395973 47395973 G A exonic CYP4A11 synonymous SNV CYP4A11:NM_000778:exon12:c.C1374T:p.I458I,CYP4A11:NM_001319155:exon12:c.C1278T:p.I426I 0.57 0.34 0.68 0.49 0.78 0.67 0.7032 0.4125 0.6986 0.5182 0.7743 0.7825 0.7189 0.6351 0.66 0.42 0.78 0.51 0.62 rs1126743 COSM3997566 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7073 0.4023 0.6923 0.7753 0.5256 0.7665 0.7847 0.7538 0.6253 0.6597 0.4132 0.7010 0.7781 0.5335 0.7702 0.7812 0.7306 het 2674.68 224 1 47395973 . G A 2674.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.870;DP=224;DS;Dels=0.00;FS=1.738;HRun=1;HaplotypeScore=3.8123;MQ=57.33;MQ0=0;MQRankSum=3.905;QD=11.94;ReadPosRankSum=-0.539;VQSLOD=2.3102;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:122,102:224:99:2705,0,3114 1 47607281 47607281 C T exonic CYP4A22 nonsynonymous SNV CYP4A22:NM_001010969:exon3:c.C376T:p.R126W,CYP4A22:NM_001308102:exon3:c.C376T:p.R126W 0.37 0.23 0.29 0.61 0.21 0.55 0.2919 0.2405 0.2915 0.6084 0.2066 0.2096 0.2764 0.5264 0.22 0.25 0.21 0.35 0.35 rs12564525 COSM5827919;COSM3746996 1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.196 P -4.805 0.000 N -0.27 0.677 T 9.1 0.000 N 0.145 0.184 -0.903 0.477 T 0.000 0.000 T . . . 1.681 0.263 14.30 0.782 0.118 0.001 0.009 N c -1.512 -1.289 0.000 0.041 0.497 0.185 0 1.66 0.230 2.987 0.488 -0.155 0.108 0.997 0.399 0.011 0.114 6.861 0.231 . ENSG00000162365.7|ENSG00000162365.7 Adipose_Subcutaneous|Nerve_Tibial 0.2896 0.2383 0.2823 0.1596 0.6101 0.2135 0.2142 0.2395 0.5230 0.2389 0.2439 0.2912 0.1656 0.5881 0.2057 0.2031 0.2633 het 1344.25 129 1 47607281 . C T 1344.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.277;DP=129;Dels=0.00;FS=6.665;HRun=0;HaplotypeScore=0.8321;MQ=56.78;MQ0=0;MQRankSum=0.021;QD=10.42;ReadPosRankSum=-1.071;VQSLOD=2.9410;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,59:129:99:1374,0,1768 1 47609489 47609489 T C exonic CYP4A22 nonsynonymous SNV CYP4A22:NM_001010969:exon6:c.T691C:p.C231R 0.58 0.5 0.46 0.93 0.35 0.65 0.4542 0.4933 0.4599 0.9360 0.3743 0.3479 0.4327 0.6353 0.39 0.5 0.34 0.56 0.43 rs10789501 COSM3746998 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1 0.273 P -4.785 0.000 N -0.17 0.656 T 5.54 0.000 N 0.068 0.064 -0.930 0.442 T 0.000 0.000 T . . . -1.975 0.008 0.001 0.229 0.009 0.041 0.094 N c -2.007 -1.853 0.043 0.146 0.520 0.210 0 1.94 0.249 0.733 0.256 -0.994 0.022 0.000 0.063 0.000 0.016 3.806 0.082 . ENSG00000186160.4|ENSG00000162365.7|ENSG00000225506.2|ENSG00000186160.4|ENSG00000162365.7|ENSG00000186160.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Testis 0.4505 0.4938 0.4582 0.2399 0.9383 0.3798 0.3521 0.3938 0.6326 0.4205 0.4983 0.4558 0.2086 0.9363 0.3599 0.3349 0.4334 het 2415.78 183 1 47609489 . T C 2415.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.333;DP=183;Dels=0.00;FS=4.626;HRun=1;HaplotypeScore=6.5651;MQ=58.27;MQ0=0;MQRankSum=0.068;QD=13.20;ReadPosRankSum=0.658;VQSLOD=4.7473;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,95:183:99:2446,0,2566 1 47685455 47685455 T C exonic TAL1 synonymous SNV TAL1:NM_001290406:exon3:c.A456G:p.K152K,TAL1:NM_001287347:exon5:c.A933G:p.K311K,TAL1:NM_001290403:exon5:c.A933G:p.K311K,TAL1:NM_001290405:exon5:c.A933G:p.K311K,TAL1:NM_001290404:exon6:c.A933G:p.K311K,TAL1:NM_003189:exon6:c.A933G:p.K311K 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 . . . 0.83 0.89 rs927462 COSM3751262;COSM3751261 23(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 1611.55 48 1 47685455 . T C 1611.55 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.43;MQ0=0;QD=33.57;VQSLOD=8.7005;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1645,135,0 1 47717189 47717189 A G exonic STIL synonymous SNV STIL:NM_001048166:exon17:c.T3486C:p.P1162P,STIL:NM_003035:exon17:c.T3483C:p.P1161P,STIL:NM_001282936:exon18:c.T3483C:p.P1161P,STIL:NM_001282937:exon18:c.T3432C:p.P1144P,STIL:NM_001282938:exon19:c.T3345C:p.P1115P,STIL:NM_001282939:exon19:c.T3291C:p.P1097P 0.39 0.12 0.41 0.43 0.54 0.56 0.4979 0.1617 0.4503 0.4494 0.6535 0.5397 0.5530 0.5336 0.41 0.18 0.53 0.34 0.64 rs2758735 . . Benign\x2cBenign|Benign not_specified\x2cnot_specified|Primary_Microcephaly\x2c_Recessive RCV000147697.1\x2cRCV000080044.7|RCV000265706.1 MedGen\x2cMedGen|MedGen CN169374\x2cCN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5038 0.1583 0.4400 0.6509 0.4504 0.6506 0.5255 0.5380 0.5373 0.4384 0.1619 0.4426 0.6358 0.4621 0.6309 0.5404 0.5510 het 1790.72 180 1 47717189 . A G 1790.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.741;DP=180;Dels=0.00;FS=7.740;HRun=2;HaplotypeScore=3.3644;MQ=59.66;MQ0=0;MQRankSum=-0.207;QD=9.95;ReadPosRankSum=-0.991;VQSLOD=4.4555;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,73:180:99:1821,0,3001 1 47767914 47767914 G A exonic STIL nonsynonymous SNV STIL:NM_001048166:exon4:c.C257T:p.A86V,STIL:NM_003035:exon4:c.C257T:p.A86V,STIL:NM_001282936:exon5:c.C257T:p.A86V,STIL:NM_001282937:exon5:c.C257T:p.A86V,STIL:NM_001282938:exon5:c.C257T:p.A86V,STIL:NM_001282939:exon5:c.C257T:p.A86V 0.61 0.88 0.59 0.57 0.46 0.44 0.5034 0.8402 0.5480 0.5500 0.3483 0.4622 0.4468 0.4674 0.59 0.82 0.48 0.67 0.3 rs3125630 COSM5618048 1(breast) Benign|other|Benign Primary_autosomal_recessive_microcephaly_7|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020526.1|RCV000147687.2|RCV000262563.1 MedGen:OMIM|MedGen|MedGen C2675187:612703|CN169374|CN239428 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.189 P -2.85 0.000 N 1.87 0.241 T 3.06 0.001 N 0.317 0.412 -0.967 0.379 T 0.000 0.000 T . . . 0.778 0.168 9.328 0.251 0.011 0.019 0.058 N c -0.980 -0.662 0.286 0.190 0.707 0.730 0 5.42 0.786 5.354 0.656 0.244 0.267 1.000 0.715 0.994 0.587 10.116 0.416 . ENSG00000186790.4|ENSG00000162368.9 Brain_Cerebellum|Colon_Transverse 0.4965 0.8441 0.5577 0.3479 0.5479 0.3507 0.4757 0.4615 0.4632 0.5630 0.8405 0.5561 0.3609 0.5386 0.3710 0.4608 0.4497 het 661.83 60 1 47767914 . G A 661.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.071;DP=60;Dels=0.00;FS=2.250;HRun=0;HaplotypeScore=0.0000;MQ=58.28;MQ0=0;MQRankSum=0.282;QD=11.03;ReadPosRankSum=-0.669;VQSLOD=5.5498;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,27:60:99:692,0,856 1 47834209 47834209 G T exonic CMPK1 nonsynonymous SNV CMPK1:NM_016308:exon2:c.G240T:p.Q80H 0.051 0.0008 0.095 0.13 0.049 0.01 0.0445 0.0098 0.0602 0.1207 0.0667 0.0444 0.0441 0.0070 0.035 0.0098 0.048 0.011 0.033 rs35687416 COSM146504 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(biliary_tract) . . . . . . . . . . . 0.003 0.682 D 0.866 0.456 P 0.279 0.385 B 0.000 0.843 D 0.000 0.810 P 1.87 0.498 L -1.08 0.771 T -2.78 0.589 D 0.093 0.094 -0.750 0.579 T 0.013 0.050 T . . . 5.466 0.742 26.2 0.995 0.682 0.967 0.700 D c 0.285 0.309 0.328 0.194 0.706 0.609 0 4.35 0.513 2.326 0.433 0.090 0.195 1.000 0.715 1.000 0.888 10.187 0.420 P-loop containing nucleoside triphosphate hydrolase . . 0.0470 0.0094 0.0606 0.0156 0.1221 0.0658 0.0467 0.0454 0.0066 0.0430 0.0107 0.0537 0.0232 0.1307 0.0644 0.0465 0.0541 het 1333.51 115 1 47834209 . G T 1333.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.435;DP=115;Dels=0.00;FS=2.383;HRun=1;HaplotypeScore=1.9717;MQ=59.68;MQ0=0;MQRankSum=-2.752;QD=11.60;ReadPosRankSum=-0.676;VQSLOD=3.8324;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,53:115:99:1364,0,1747 1 48695081 48695081 G A exonic SLC5A9 nonsynonymous SNV SLC5A9:NM_001011547:exon4:c.G454A:p.V152M,SLC5A9:NM_001135181:exon5:c.G529A:p.V177M 0.17 0.31 0.12 0.011 0.16 0.18 0.1621 0.3078 0.0837 0.0095 0.1617 0.1667 0.1523 0.1879 0.21 0.3 0.16 0.21 0.15 rs212989 COSM3751264 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.21 0.196 T 0.095 0.239 B 0.111 0.300 B 0.000 0.629 D 0.270 0.348 P -0.94 0.013 N -2.49 0.892 D -0.81 0.245 N 0.08 0.411 -1.090 0.055 T 0.000 0.000 T . . . 1.911 0.291 15.66 0.983 0.399 0.421 0.266 N c -0.439 -0.310 0.649 0.221 0.487 0.133 0 1.73 0.235 0.575 0.233 1.048 0.713 0.187 0.239 1.000 0.888 3.579 0.074 . ENSG00000117834.8|ENSG00000117834.8 Lung|Thyroid 0.1535 0.3068 0.0845 0.1560 0.0088 0.1606 0.1637 0.1692 0.1876 0.1994 0.3130 0.1074 0.1523 0.0129 0.1521 0.1720 0.1807 het 2738.48 174 1 48695081 . G A 2738.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.438;DP=174;Dels=0.00;FS=0.582;HRun=0;HaplotypeScore=0.9469;MQ=59.62;MQ0=0;MQRankSum=0.765;QD=15.74;ReadPosRankSum=-0.543;VQSLOD=6.4818;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,101:174:99:2768,0,1951 1 48697733 48697733 T G exonic SLC5A9 nonsynonymous SNV SLC5A9:NM_001011547:exon7:c.T807G:p.I269M,SLC5A9:NM_001135181:exon8:c.T882G:p.I294M 1. 1. 1. 1. 1. 1. 0.9993 1 0.9986 0.9999 1 0.9989 0.9989 0.9999 1. 1. 1. 1. 1. rs212991 COSM4144064 1(thyroid) . . . . . . . . . . . 0.999 0.021 T 0.0 0.067 B 0.001 0.121 B 0.000 0.513 N 1.000 0.810 P -0.485 0.027 N -2.35 0.881 D -0.16 0.096 N 0.095 0.095 -0.915 0.463 T 0.000 0.000 T . . . 0.292 0.122 5.614 0.268 0.013 0.271 0.230 N c -0.732 -0.498 0.883 0.256 0.554 0.283 0 4.05 0.462 1.922 0.394 0.136 0.221 1.000 0.715 0.989 0.536 5.718 0.171 . . . 0.9992 0.9999 0.9987 1 0.9999 1 0.9987 0.9996 0.9998 0.9995 0.9998 0.9952 1 1 1 0.9993 1 hom 4220.49 127 1 48697733 . T G 4220.49 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7873;MQ=59.82;MQ0=0;QD=33.23;VQSLOD=9.7833;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4220,328,0 1 48697751 48697751 C T exonic SLC5A9 synonymous SNV SLC5A9:NM_001011547:exon7:c.C825T:p.S275S,SLC5A9:NM_001135181:exon8:c.C900T:p.S300S 0.066 0.017 0.088 . 0.17 0.077 0.1345 0.0333 0.1017 0.0002 0.1391 0.1808 0.1564 0.1017 0.14 0.037 0.2 . 0.15 rs61997212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1357 0.0292 0.1091 0.1983 0.0003 0.1329 0.1826 0.1543 0.1027 0.1159 0.0322 0.1050 0.2318 0.0018 0.1361 0.1698 0.1288 het 1179.29 94 1 48697751 . C T 1179.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.362;DP=94;Dels=0.00;FS=1.888;HRun=0;HaplotypeScore=2.5978;MQ=59.31;MQ0=0;MQRankSum=-0.099;QD=12.55;ReadPosRankSum=-0.687;VQSLOD=6.3311;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,46:94:99:1209,0,1240 1 48708228 48708228 G T exonic SLC5A9 stopgain SLC5A9:NM_001011547:exon13:c.G1777T:p.E593X,SLC5A9:NM_001135181:exon14:c.G1852T:p.E618X 0.11 0.11 0.1 0.011 0.16 0.18 0.1460 0.1339 0.0731 0.0095 0.1623 0.1664 0.1417 0.1876 0.15 0.13 0.16 0.15 0.13 rs850763 COSM3751265 1(large_intestine) . . . . . . . . . . . . . . . . . . . . 0.123 0.027 N 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 8.005 0.957 35 0.956 0.266 0.061 0.120 N c -0.095 -0.433 0.999 0.392 0.487 0.133 0 2.61 0.301 1.315 0.330 0.066 0.173 0.003 0.159 0.000 0.016 9.569 0.384 . ENSG00000117834.8|ENSG00000117834.8 Lung|Thyroid 0.1398 0.1300 0.0727 0.1549 0.0088 0.1605 0.1623 0.1578 0.1864 0.1471 0.1325 0.0993 0.1523 0.0129 0.1525 0.1700 0.1684 het 1054.88 85 1 48708228 . G T 1054.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.493;DP=85;Dels=0.00;FS=0.968;HRun=0;HaplotypeScore=3.5571;MQ=59.44;MQ0=0;MQRankSum=0.697;QD=12.41;ReadPosRankSum=-0.588;VQSLOD=6.4195;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,43:85:99:1085,0,1050 1 48713206 48713206 T C exonic SLC5A9 synonymous SNV SLC5A9:NM_001011547:exon14:c.T2037C:p.Y679Y,SLC5A9:NM_001135181:exon15:c.T2112C:p.Y704Y 0.028 0.011 0.042 0.001 0.065 0.034 0.0592 0.0193 0.0306 0.0001 0.0847 0.0800 0.0540 0.0416 0.057 0.022 0.075 0.011 0.057 rs7535096 COSM4144065 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0585 0.0171 0.0302 0.0750 0.0002 0.0861 0.0784 0.0731 0.0427 0.0546 0.0196 0.0358 0.0728 0 0.0790 0.0751 0.0662 het 1852.17 169 1 48713206 . T C 1852.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.501;DP=169;Dels=0.00;FS=0.618;HRun=0;HaplotypeScore=2.1445;MQ=59.25;MQ0=0;MQRankSum=-0.717;QD=10.96;ReadPosRankSum=0.042;VQSLOD=5.7991;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,75:169:99:1882,0,2473 1 48764419 48764419 C T exonic SPATA6 nonsynonymous SNV SPATA6:NM_001286239:exon12:c.G1391A:p.C464Y,SPATA6:NM_001286238:exon13:c.G1385A:p.C462Y,SPATA6:NM_019073:exon13:c.G1433A:p.C478Y 0.27 0.025 0.33 0.35 0.43 0.34 0.3636 0.0754 0.3433 0.3560 0.3719 0.4142 0.4040 0.3534 0.31 0.089 0.42 0.16 0.34 rs1056042 COSM146506 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(skin);3(prostate);2(large_intestine) . . . . . . . . . . . 0.034 0.440 D 0.997 0.689 D 0.994 0.807 D 0.000 0.629 D 0.104 0.360 P 0.805 0.203 L 2.64 0.129 T -2.08 0.475 N 0.858 0.845 -0.865 0.509 T 0.000 0.000 T . . . 6.243 0.862 28.9 0.997 0.805 0.664 0.328 D c 0.420 0.436 0.032 0.140 0.638 0.428 0 4.78 0.605 2.175 0.419 0.852 0.362 1.000 0.715 1.000 0.888 13.188 0.589 . ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000132122.7|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000132122.7|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina 0.3681 0.0696 0.3577 0.4646 0.3492 0.3622 0.4111 0.3843 0.3530 0.3116 0.0757 0.3618 0.4867 0.3387 0.3665 0.4225 0.3809 het 3211.82 250 1 48764419 . C T 3211.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.613;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.5203;MQ=59.20;MQ0=0;MQRankSum=-0.402;QD=12.85;ReadPosRankSum=0.054;VQSLOD=4.4406;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,127:250:99:3242,0,3365 1 49201984 49201984 G A exonic BEND5 synonymous SNV BEND5:NM_001349793:exon4:c.C528T:p.G176G,BEND5:NM_001302082:exon5:c.C528T:p.G176G,BEND5:NM_024603:exon5:c.C1035T:p.G345G,BEND5:NM_001349794:exon6:c.C528T:p.G176G,BEND5:NM_001349795:exon7:c.C780T:p.G260G 0.0014 . 0.0043 0.001 0.003 . 0.0022 0.0011 0.0012 0.0005 0.0008 0.0035 0.0011 0.0002 0.0036 0.0009 0.005 . . rs114450193 COSM1343239;COSM1343240 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0008 0.0019 0.0001 0.0003 0.0008 0.0042 0.0016 0.0002 0.0022 0.0008 0 0 0 0.0006 0.0038 0.0021 het 2786.48 206 1 49201984 . G A 2786.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.856;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3460;MQ=59.41;MQ0=0;MQRankSum=1.024;QD=13.53;ReadPosRankSum=2.621;VQSLOD=3.4114;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,109:206:99:2816,0,2400 1 50661411 50661411 C T exonic ELAVL4 synonymous SNV ELAVL4:NM_001144774:exon5:c.C687T:p.P229P,ELAVL4:NM_001144775:exon5:c.C795T:p.P265P,ELAVL4:NM_001144776:exon5:c.C687T:p.P229P,ELAVL4:NM_001144777:exon5:c.C696T:p.P232P,ELAVL4:NM_001294348:exon5:c.C702T:p.P234P,ELAVL4:NM_001324208:exon5:c.C696T:p.P232P,ELAVL4:NM_001324213:exon5:c.C702T:p.P234P,ELAVL4:NM_001324215:exon5:c.C702T:p.P234P,ELAVL4:NM_021952:exon5:c.C687T:p.P229P,ELAVL4:NM_001324209:exon6:c.C684T:p.P228P,ELAVL4:NM_001324212:exon6:c.C684T:p.P228P,ELAVL4:NM_001324214:exon6:c.C684T:p.P228P 0.82 0.37 0.94 1. 0.97 0.98 0.9282 0.4373 0.9662 0.9988 0.9731 0.9699 0.9548 0.9861 0.8 0.46 0.97 0.7 0.93 rs2480683 COSM4144066;COSM4144067 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9392 0.4339 0.9607 0.9633 0.9988 0.9729 0.9707 0.9526 0.9854 0.8232 0.4454 0.9511 0.9470 1 0.9694 0.9716 0.9460 hom 4414.42 151 1 50661411 . C T 4414.42 Mask AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;QD=29.23;VQSLOD=8.5598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:151:99:4414,358,0 1 50666515 50666515 C T exonic ELAVL4 nonsynonymous SNV ELAVL4:NM_001324208:exon7:c.C817T:p.P273S,ELAVL4:NM_001324213:exon7:c.C823T:p.P275S,ELAVL4:NM_021952:exon7:c.C808T:p.P270S 0.7 0.34 0.88 0.65 0.9 0.88 0.8398 0.4069 0.8726 0.6538 0.8390 0.9138 0.8631 0.8889 0.75 0.43 0.92 0.61 0.89 rs2494876 . . . . . . . . . . . . . 0.799 0.031 T 0.001 0.067 B 0.002 0.063 B 0.001 0.404 N 1.000 0.588 P -0.55 0.024 N 2.89 0.102 T 0.42 0.034 N 0.113 0.123 -1.017 0.247 T 0.000 0.000 T . . . 1.730 0.269 14.58 0.646 0.073 0.947 0.619 D c -0.470 -0.254 0.000 0.053 0.487 0.133 0 3.52 0.393 0.846 0.271 0.065 0.171 0.995 0.385 1.000 0.888 9.992 0.409 . . . 0.8475 0.4028 0.8723 0.9194 0.6384 0.8388 0.9173 0.8833 0.8860 0.7380 0.4086 0.8705 0.8974 0.6264 0.8359 0.9007 0.8467 hom 6484.92 211 1 50666515 . C T 6484.92 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.10;MQ0=0;QD=30.73;VQSLOD=8.7282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:6484,512,0 1 51121198 51121198 T C exonic FAF1 synonymous SNV FAF1:NM_007051:exon8:c.A660G:p.V220V 0.092 0.018 0.071 0.001 0.11 0.28 0.1349 0.0323 0.0643 0.0030 0.1670 0.1390 0.1593 0.2870 0.098 0.038 0.13 0.098 0.09 rs11205753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1324 0.0278 0.0641 0.1363 0.0022 0.1694 0.1365 0.1400 0.2865 0.1119 0.0294 0.0789 0.1556 0.0018 0.1781 0.1536 0.1704 het 1045.91 75 1 51121198 . T C 1045.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.046;DP=75;Dels=0.00;FS=1.001;HRun=0;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;MQRankSum=-0.631;QD=13.95;ReadPosRankSum=0.281;VQSLOD=6.3539;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,39:75:99:1076,0,919 1 51826921 51826921 T C exonic EPS15 nonsynonymous SNV EPS15:NM_001159969:exon12:c.A1524G:p.I508M,EPS15:NM_001981:exon24:c.A2466G:p.I822M 0.23 0.57 0.16 0.012 0.2 0.09 0.2065 0.5231 0.1232 0.0134 0.1352 0.2249 0.1784 0.1222 0.33 0.51 0.23 0.35 0.25 rs17567 COSM4909299;COSM3735975 10(soft_tissue);1(pancreas);1(skin);1(thyroid) . . . . . . . . . . . 0.223 0.187 T 0.001 0.067 B 0.0 0.040 B . . . 1 0.199 P -1.1 0.010 N 0.98 0.421 T 0.81 0.018 N 0.053 0.035 -0.947 0.416 T 0.000 0.000 T . . . 1.996 0.301 16.19 0.907 0.194 0.179 0.198 N c -0.557 -0.292 0.043 0.146 0.732 0.924 0 5.85 0.936 0.699 0.251 -0.384 0.065 1.000 0.715 0.992 0.562 8.804 0.339 . . . 0.1945 0.5294 0.1264 0.2122 0.0119 0.1335 0.2272 0.2063 0.1227 0.2837 0.5167 0.1307 0.2483 0.0155 0.1292 0.2275 0.2065 hom 4398.29 146 1 51826921 . T C 4398.29 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=59.04;MQ0=0;QD=30.13;VQSLOD=8.8186;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:146:99:4398,334,0 1 51873951 51873951 G A exonic EPS15 synonymous SNV EPS15:NM_001159969:exon3:c.C387T:p.Y129Y,EPS15:NM_001981:exon15:c.C1329T:p.Y443Y 0.82 0.89 0.76 0.99 0.62 0.8 0.7347 0.8791 0.8134 0.9935 0.7101 0.6595 0.6795 0.7694 0.73 0.87 0.65 0.89 0.52 rs1065754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7307 0.8826 0.8006 0.5673 0.9932 0.7065 0.6593 0.6919 0.7675 0.7522 0.8763 0.7840 0.5728 0.9975 0.7030 0.6682 0.7290 hom 4074.31 122 1 51873951 . G A 4074.31 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=33.40;VQSLOD=9.2675;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4074,325,0 1 51912760 51912760 T G exonic EPS15 synonymous SNV EPS15:NM_001981:exon10:c.A669C:p.A223A 0.047 0.098 0.027 0.011 0.033 0.043 0.0376 0.0868 0.0316 0.0123 0.0101 0.0330 0.0463 0.0534 0.048 0.079 0.032 0.065 0.025 rs34704431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0346 0.0870 0.0259 0.0275 0.0105 0.0109 0.0339 0.0415 0.0525 0.0441 0.0835 0.0215 0.0364 0.0142 0.0100 0.0340 0.0418 het 1286.43 77 1 51912760 . T G 1286.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.276;DP=77;Dels=0.00;FS=11.527;HRun=1;HaplotypeScore=3.5127;MQ=58.97;MQ0=0;MQRankSum=0.654;QD=16.71;ReadPosRankSum=0.384;VQSLOD=3.4340;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,46:77:99:1316,0,743 1 52266242 52266242 G A exonic NRDC synonymous SNV NRDC:NM_001101662:exon21:c.C2427T:p.P809P,NRDC:NM_001242361:exon23:c.C2235T:p.P745P,NRDC:NM_002525:exon23:c.C2631T:p.P877P 0.49 0.22 0.59 0.82 0.53 0.39 0.5032 0.2639 0.6036 0.8304 0.5228 0.5017 0.5099 0.4097 0.43 0.28 0.5 0.47 0.52 rs8375 COSM3747005;COSM3747004 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5166 0.2655 0.5994 0.4843 0.8333 0.5406 0.5046 0.5095 0.4117 0.4650 0.2666 0.5921 0.5430 0.8288 0.5432 0.5142 0.4611 hom 4960.05 165 1 52266242 . G A 4960.05 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=30.06;VQSLOD=9.3700;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,165:165:99:4960,376,0 1 52290984 52290984 T G exonic NRDC synonymous SNV NRDC:NM_001101662:exon6:c.A1011C:p.G337G,NRDC:NM_001242361:exon8:c.A819C:p.G273G,NRDC:NM_002525:exon8:c.A1215C:p.G405G 0.5 0.25 0.6 0.83 0.52 0.39 0.5039 0.2864 0.6053 0.8300 0.5121 0.4997 0.5110 0.4106 0.43 0.29 0.5 0.49 0.49 rs11205896 COSM3747006;COSM3747007 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5079 0.2804 0.5868 0.4776 0.8281 0.5255 0.4975 0.5010 0.4020 0.4677 0.2893 0.5931 0.5430 0.8253 0.5293 0.5102 0.4653 hom 2428.91 86 1 52290984 . T G 2428.91 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.24;VQSLOD=13.2791;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2462,181,0 1 52838992 52838992 A G exonic ORC1 nonsynonymous SNV ORC1:NM_001190818:exon17:c.T2447C:p.M816T,ORC1:NM_001190819:exon17:c.T2432C:p.M811T,ORC1:NM_004153:exon17:c.T2447C:p.M816T 0.0094 0.003 0.0086 . 0.035 0.002 0.0205 0.0047 0.0101 0 0.0367 0.0302 0.0143 0.0033 0.018 0.0039 0.025 . 0.025 rs34521609 . . Likely benign|Likely benign not_specified|Meier-Gorlin_syndrome RCV000117877.2|RCV000304858.1 MedGen|MedGen:Orphanet CN169374|C1868684:ORPHA2554 . . . . . . 0.302 0.144 T 0.025 0.179 B 0.05 0.239 B 0.007 0.314 N 0.987 0.405 D -0.345 0.033 N 1.1 0.390 T -1.25 0.316 N 0.124 0.140 -1.081 0.072 T 0.022 0.094 T . . . 1.544 0.247 13.55 0.736 0.101 0.992 0.929 D c -0.237 -0.033 1.000 0.517 0.707 0.730 0 5.18 0.710 6.871 0.751 1.199 0.960 1.000 0.715 0.985 0.512 15.179 0.725 Cdc6\x2c C-terminal domain|Winged helix-turn-helix DNA-binding domain ENSG00000117862.7 Whole_Blood 0.0193 0.0035 0.0093 0.0120 0 0.0377 0.0286 0.0192 0.0038 0.0200 0.0022 0.0095 0.0166 0 0.0343 0.0289 0.0357 het 1496.11 111 1 52838992 . A G 1496.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.422;DP=111;Dels=0.00;FS=5.196;HRun=0;HaplotypeScore=3.8409;MQ=59.46;MQ0=0;MQRankSum=1.513;QD=13.48;ReadPosRankSum=0.492;VQSLOD=5.1360;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,56:111:99:1526,0,1500 1 52991638 52991638 C T exonic ZCCHC11 synonymous SNV ZCCHC11:NM_001009881:exon2:c.G315A:p.P105P,ZCCHC11:NM_015269:exon2:c.G315A:p.P105P 0.29 0.015 0.51 0.43 0.37 0.26 0.3356 0.0651 0.5171 0.4602 0.4016 0.3361 0.3822 0.2823 0.25 0.077 0.33 0.29 0.29 rs12123698 COSM3747011 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3515 0.0628 0.5205 0.2913 0.4662 0.4064 0.3352 0.3660 0.2826 0.2843 0.0652 0.5072 0.2848 0.4789 0.4125 0.3445 0.3452 het 2086.48 171 1 52991638 . C T 2086.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.777;DP=171;Dels=0.00;FS=0.571;HRun=0;HaplotypeScore=6.9264;MQ=58.64;MQ0=0;MQRankSum=1.600;QD=12.20;ReadPosRankSum=0.719;VQSLOD=4.5203;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,77:171:99:2116,0,2313 1 53072454 53072454 T C exonic GPX7 synonymous SNV GPX7:NM_015696:exon2:c.T237C:p.F79F 0.88 0.97 0.88 0.8 0.84 0.87 0.8478 0.9566 0.8545 0.7817 0.8518 0.8340 0.8612 0.8623 0.88 0.95 0.84 0.88 0.85 rs1970951 COSM3997572 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8471 0.9592 0.8608 0.8652 0.7898 0.8490 0.8297 0.8541 0.8634 0.8689 0.9536 0.8732 0.8377 0.7767 0.8537 0.8346 0.8504 hom 5629.73 174 1 53072454 . T C 5629.73 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5998;MQ=59.12;MQ0=0;QD=32.35;VQSLOD=7.3197;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,173:174:99:5629,445,0 1 53250650 53250650 G A exonic ZYG11B synonymous SNV ZYG11B:NM_024646:exon5:c.G1194A:p.G398G 0.71 0.91 0.67 0.98 0.43 0.51 0.5462 0.8399 0.7262 0.9674 0.4938 0.4376 0.5507 0.4740 0.57 0.82 0.44 0.81 0.36 rs6588443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5527 0.8483 0.7208 0.5386 0.9690 0.5 0.4328 0.5239 0.4720 0.5920 0.8428 0.6885 0.55 0.9722 0.4863 0.4312 0.4980 het 1408.10 110 1 53250650 . G A 1408.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.490;DP=110;Dels=0.00;FS=2.506;HRun=1;HaplotypeScore=3.4867;MQ=59.43;MQ0=0;MQRankSum=-1.085;QD=12.80;ReadPosRankSum=0.906;VQSLOD=5.0308;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,56:110:99:1438,0,1466 1 53535478 53535478 G A exonic PODN nonsynonymous SNV PODN:NM_153703:exon2:c.G95A:p.R32H,PODN:NM_001199081:exon3:c.G38A:p.R13H,PODN:NM_001199080:exon4:c.G38A:p.R13H 0.36 0.12 0.34 0.55 0.43 0.41 0.5010 0.2523 0.5519 0.6319 0.6123 0.5294 0.5236 0.4094 0.34 0.18 0.42 0.35 0.22 rs1288386 COSM3747014;COSM3747013 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.099 0.306 T 0.345 0.318 B 0.02 0.179 B . . . 1 0.090 P . . . 0.02 0.623 T -0.19 0.123 N 0.034 0.014 -0.907 0.472 T 0.000 0.000 T . . . 1.144 0.204 11.45 0.959 0.275 0.038 0.090 N c -0.866 -0.992 0.495 0.209 0.581 0.326 0 1.03 0.191 -0.550 0.061 -0.075 0.119 0.000 0.063 0.000 0.016 4.504 0.112 . ENSG00000227644.2|ENSG00000227644.2|ENSG00000227644.2|ENSG00000121310.12 Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Stomach|Whole_Blood 0.4201 0.1697 0.4229 0.4834 0.5725 0.4866 0.4191 0.4386 0.3737 0.3626 0.1655 0.4257 0.4667 0.5785 0.4934 0.4155 0.4018 het 164.92 14 1 53535478 . G A 164.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.471;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.87;MQ0=0;MQRankSum=1.365;QD=11.78;ReadPosRankSum=-1.365;VQSLOD=5.5387;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,8:14:99:195,0,153 1 53537266 53537266 G A exonic PODN synonymous SNV PODN:NM_153703:exon3:c.G516A:p.T172T,PODN:NM_001199081:exon4:c.G459A:p.T153T,PODN:NM_001199080:exon5:c.G459A:p.T153T 0.56 0.5 0.65 0.74 0.47 0.48 0.5116 0.5122 0.7411 0.7575 0.5066 0.4555 0.5291 0.4469 0.49 0.52 0.47 0.54 0.41 rs1769316 COSM3751291;COSM3751290 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5255 0.5201 0.7333 0.5217 0.7604 0.5073 0.4547 0.5192 0.4411 0.4993 0.5172 0.6890 0.5 0.7509 0.5092 0.4508 0.4673 het 657.48 61 1 53537266 . G A 657.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.822;DP=61;Dels=0.00;FS=1.006;HRun=0;HaplotypeScore=2.8093;MQ=58.31;MQ0=0;MQRankSum=0.422;QD=10.78;ReadPosRankSum=-0.941;VQSLOD=5.8355;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,28:61:99:687,0,790 1 53544439 53544439 G A exonic PODN synonymous SNV PODN:NM_153703:exon8:c.G1401A:p.P467P,PODN:NM_001199081:exon9:c.G1344A:p.P448P,PODN:NM_001199080:exon10:c.G1344A:p.P448P 0.41 0.15 0.48 0.29 0.73 0.5 0.5900 0.2354 0.4159 0.3015 0.7668 0.7153 0.6430 0.5058 0.57 0.26 0.73 0.36 0.61 rs1288388 COSM3997578;COSM3997579 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5954 0.2260 0.4311 0.7265 0.3042 0.7623 0.7171 0.6384 0.5102 0.5591 0.2331 0.4642 0.6821 0.2907 0.7732 0.7238 0.6670 hom 6943.78 221 1 53544439 . G A 6943.78 Mask AC=2;AF=1.00;AN=2;DP=221;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2499;MQ=59.48;MQ0=0;QD=31.42;VQSLOD=8.5254;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,221:221:99:6942,593,0 1 53544597 53544597 T C exonic PODN nonsynonymous SNV PODN:NM_153703:exon8:c.T1559C:p.V520A,PODN:NM_001199081:exon9:c.T1502C:p.V501A,PODN:NM_001199080:exon10:c.T1502C:p.V501A 0.56 0.4 0.58 0.33 0.9 0.66 0.7717 0.4877 0.5423 0.3871 0.897 0.8939 0.7990 0.6980 0.75 0.47 0.89 0.49 0.58 rs1288389 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.006 0.112 B 0.027 0.259 N 1 0.090 P -0.7 0.018 N 1.9 0.235 T 1.8 0.005 N 0.023 0.006 -0.959 0.395 T 0.000 0.000 T . . . -0.510 0.055 0.208 0.689 0.085 0.013 0.045 N c -0.926 -0.692 1.000 0.422 0.554 0.283 0 3.91 0.442 1.943 0.396 -0.513 0.050 0.912 0.315 0.686 0.306 11.803 0.512 Leucine-rich repeat domain\x2c L domain-like ENSG00000235563.1|ENSG00000235563.1|ENSG00000235563.1|ENSG00000162383.7 Artery_Tibial|Nerve_Tibial|Thyroid|Whole_Blood 0.7417 0.4340 0.5106 0.9232 0.3346 0.8919 0.8871 0.7963 0.6884 0.7279 0.4539 0.5538 0.9040 0.3317 0.9007 0.8893 0.8296 hom 955.55 30 1 53544597 . T C 955.55 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=31.85;VQSLOD=8.5212;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:90.21:989,90,0 1 53553702 53553702 A G exonic SLC1A7 synonymous SNV SLC1A7:NM_001287595:exon11:c.T1839C:p.S613S,SLC1A7:NM_006671:exon11:c.T1662C:p.S554S 0.94 0.79 0.99 1. 1. 1. 0.9828 0.8225 0.9916 0.9998 0.9995 0.9994 0.9905 0.9998 0.94 0.83 1. 0.9 1. rs1288400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9857 0.8170 0.9909 0.9990 0.9998 0.9996 0.9994 0.9931 0.9996 0.9482 0.8198 0.9868 0.9967 1 0.9991 0.9994 0.9908 hom 2106.18 76 1 53553702 . A G 2106.18 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=27.71;VQSLOD=7.4760;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2139,177,0 1 53553754 53553754 T C exonic SLC1A7 nonsynonymous SNV SLC1A7:NM_001287595:exon11:c.A1787G:p.Q596R,SLC1A7:NM_006671:exon11:c.A1610G:p.Q537R 0.41 0.15 0.48 0.3 0.73 0.5 0.5929 0.2336 0.4154 0.3021 0.7686 0.7166 0.6477 0.5203 0.57 0.26 0.73 0.35 0.67 rs1288401 COSM146516 1(breast);1(stomach) . . . . . . . . . . . 0.346 0.124 T 0.0 0.026 B 0.0 0.013 B 0.001 0.400 N 0.004 0.431 P 1.04 0.263 L 0.79 0.491 T -0.89 0.240 N 0.127 0.144 -1.000 0.299 T 0.000 0.000 T . . . 1.543 0.247 13.54 0.954 0.262 0.942 0.602 D c -0.205 0.010 1.000 0.747 0.487 0.133 0 5.76 0.907 3.687 0.542 1.061 0.807 1.000 0.715 0.701 0.310 16.092 0.808 . ENSG00000236723.1 Brain_Hippocampus 0.5959 0.2230 0.4306 0.7249 0.3034 0.7642 0.7180 0.6394 0.5121 0.5577 0.2275 0.4665 0.6755 0.2890 0.7747 0.7240 0.6691 hom 2705.32 94 1 53553754 . T C 2705.32 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;QD=28.78;VQSLOD=7.9184;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2738,217,0 1 53558270 53558270 A G exonic SLC1A7 synonymous SNV SLC1A7:NM_001287597:exon6:c.T771C:p.R257R,SLC1A7:NM_001287595:exon7:c.T987C:p.R329R,SLC1A7:NM_006671:exon7:c.T987C:p.R329R 0.85 0.74 0.92 0.95 0.83 0.84 0.8389 0.7538 0.9278 0.9595 0.8674 0.8220 0.8422 0.8235 0.81 0.76 0.84 0.73 0.67 rs1288406 COSM4144082 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8488 0.7521 0.9266 0.8062 0.9567 0.8678 0.8290 0.8459 0.8234 0.8233 0.7528 0.9079 0.7748 0.9488 0.8717 0.8348 0.8357 hom 1736.23 61 1 53558270 . A G 1736.23 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9279;MQ=59.51;MQ0=1;QD=28.46;VQSLOD=8.5128;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1769,150,0 1 53676448 53676448 G A exonic CPT2 nonsynonymous SNV CPT2:NM_000098:exon4:c.G1102A:p.V368I,CPT2:NM_001330589:exon4:c.G1102A:p.V368I 0.41 0.26 0.38 0.72 0.52 0.22 0.4841 0.2836 0.4291 0.7326 0.5312 0.5438 0.4493 0.2609 0.46 0.29 0.54 0.37 0.52 rs1799821 COSM3751293 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign|Benign Encephalopathy\x2c_acute\x2c_infection-induced\x2c_4\x2c_susceptibility_to|not_specified|Carnitine_palmitoyltransferase_II_deficiency RCV000023026.3|RCV000078116.6|RCV000202483.2 MedGen:OMIM:Orphanet|MedGen|MedGen:Orphanet:SNOMED_CT C3280160:614212:ORPHA263524|CN169374|C0342790:ORPHA157:238002005 . . . . . . 1.0 0.010 T 0.011 0.147 B 0.004 0.093 B 0.005 0.330 N 0.999 0.218 P -0.74 0.017 N -2.47 0.890 D 0.11 0.057 N 0.077 0.068 -0.955 0.402 T 0.000 0.000 T . . . -1.832 0.010 0.002 0.719 0.095 0.110 0.162 N c -1.380 -1.312 0.002 0.095 0.732 0.924 0 -0.261 0.123 -0.048 0.118 0.073 0.181 0.000 0.063 0.594 0.287 10.737 0.451 . ENSG00000162384.9|ENSG00000162384.9|ENSG00000162384.9|ENSG00000162384.9 Artery_Tibial|Esophagus_Muscularis|Muscle_Skeletal|Thyroid 0.4869 0.2788 0.4386 0.4950 0.7296 0.5352 0.5443 0.4832 0.2625 0.4707 0.2888 0.4487 0.4967 0.7367 0.5278 0.5354 0.4663 het 1174.19 85 1 53676448 . G A 1174.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.674;DP=85;Dels=0.00;FS=1.784;HRun=0;HaplotypeScore=0.9997;MQ=60.00;MQ0=0;MQRankSum=0.031;QD=13.81;ReadPosRankSum=0.850;VQSLOD=6.5904;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,45:85:99:1204,0,1104 1 53712727 53712727 C T exonic LRP8 nonsynonymous SNV LRP8:NM_017522:exon16:c.G2066A:p.R689Q,LRP8:NM_033300:exon17:c.G2345A:p.R782Q,LRP8:NM_001018054:exon18:c.G2678A:p.R893Q,LRP8:NM_004631:exon19:c.G2855A:p.R952Q 0.14 0.017 0.18 0.033 0.4 0.15 0.2953 0.0705 0.1833 0.0299 0.4267 0.4032 0.28 0.1659 0.29 0.083 0.4 0.098 0.27 rs5174 COSM3751296 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other Myocardial_infarction_1 RCV000007411.2 MedGen:OMIM C1838021:608446 . . . . . . 0.049 0.424 D 1.0 0.899 D 0.996 0.832 D . . . 0.000 0.588 P 0.695 0.181 N -2.9 0.939 D -0.29 0.478 N 0.545 0.632 -1.204 0.001 T 0.000 0.000 T . . . 7.290 0.948 34 0.999 0.995 0.994 0.959 D c 0.531 0.603 1.000 0.747 0.707 0.730 0 5.43 0.789 7.185 0.771 0.852 0.362 1.000 0.715 1.000 0.888 17.432 0.874 EGF-like domain ENSG00000162384.9|ENSG00000157193.10|ENSG00000162384.9|ENSG00000162384.9|ENSG00000162384.9|ENSG00000162384.9 Artery_Tibial|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Testis 0.2940 0.0631 0.1904 0.2934 0.0318 0.4271 0.4018 0.3022 0.1597 0.2862 0.0680 0.1914 0.2848 0.0309 0.4230 0.4114 0.3306 het 753.70 56 1 53712727 . C T 753.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.312;DP=56;Dels=0.00;FS=1.097;HRun=1;HaplotypeScore=0.6651;MQ=59.59;MQ0=0;MQRankSum=0.049;QD=13.46;ReadPosRankSum=0.344;VQSLOD=6.8414;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,29:56:99:784,0,669 1 53716416 53716416 G A exonic LRP8 synonymous SNV LRP8:NM_017522:exon15:c.C2010T:p.D670D,LRP8:NM_033300:exon15:c.C2112T:p.D704D,LRP8:NM_001018054:exon17:c.C2622T:p.D874D,LRP8:NM_004631:exon17:c.C2622T:p.D874D 0.37 0.25 0.29 0.7 0.41 0.22 0.4015 0.2668 0.3712 0.7263 0.4605 0.4229 0.3789 0.2287 0.36 0.27 0.41 0.35 0.29 rs3737983 COSM3751297 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4033 0.2636 0.3784 0.3351 0.7245 0.4646 0.4226 0.3843 0.2309 0.4004 0.2705 0.3660 0.3245 0.7165 0.4613 0.4318 0.3904 het 1491.95 143 1 53716416 . G A 1491.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.476;DP=143;Dels=0.00;FS=7.567;HRun=0;HaplotypeScore=2.7300;MQ=59.22;MQ0=0;MQRankSum=-0.863;QD=10.43;ReadPosRankSum=0.394;VQSLOD=4.6314;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,61:143:99:1522,0,2179 1 53732315 53732315 G T exonic LRP8 synonymous SNV LRP8:NM_033300:exon7:c.C747A:p.G249G,LRP8:NM_017522:exon8:c.C870A:p.G290G,LRP8:NM_001018054:exon9:c.C1257A:p.G419G,LRP8:NM_004631:exon9:c.C1257A:p.G419G 0.34 0.2 0.28 0.63 0.4 0.18 0.3798 0.2258 0.3675 0.6444 0.4368 0.4124 0.3535 0.1936 0.34 0.23 0.4 0.32 0.29 rs2297660 COSM3751298 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3826 0.2246 0.3740 0.3260 0.6440 0.4424 0.4121 0.3673 0.1943 0.3731 0.2256 0.3589 0.3146 0.6310 0.4355 0.4186 0.3699 het 1708.18 152 1 53732315 . G T 1708.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.379;DP=152;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8254;MQ=59.60;MQ0=0;MQRankSum=-0.069;QD=11.24;ReadPosRankSum=0.954;VQSLOD=6.0309;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,68:152:99:1738,0,2297 1 53792651 53792651 A C exonic LRP8 nonsynonymous SNV LRP8:NM_001018054:exon2:c.T138G:p.D46E,LRP8:NM_004631:exon2:c.T138G:p.D46E,LRP8:NM_017522:exon2:c.T138G:p.D46E,LRP8:NM_033300:exon2:c.T138G:p.D46E 0.55 0.93 0.3 0.48 0.39 0.45 0.4121 0.8458 0.2372 0.4424 0.3867 0.3676 0.4343 0.4338 0.52 0.82 0.36 0.69 0.42 rs3820198 COSM3722413 2(thyroid);2(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 1.0 0.076 T 0.0 0.067 B 0.0 0.040 B . . . 1.000 0.810 P -0.105 0.046 N -3.61 0.950 D 0.71 0.035 N 0.031 0.029 -0.940 0.427 T 0.000 0.000 T . . . -1.028 0.031 0.014 0.617 0.066 0.043 0.098 N c -1.606 -1.545 1.000 0.747 0.442 0.072 0 0.782 0.176 -0.363 0.076 -1.086 0.019 0.015 0.189 0.617 0.292 1.535 0.024 . ENSG00000270172.1|ENSG00000157193.10 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.3948 0.8548 0.2428 0.4015 0.4452 0.3879 0.3601 0.3794 0.4352 0.5006 0.8457 0.2852 0.3742 0.4211 0.3978 0.3560 0.3576 hom 3133.42 102 1 53792651 . A C 3133.42 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.470;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6546;MQ=59.16;MQ0=0;MQRankSum=0.170;QD=30.72;ReadPosRankSum=-0.530;VQSLOD=7.9377;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:3,99:102:99:3166,187,0 1 54060016 54060016 G C exonic GLIS1 nonsynonymous SNV GLIS1:NM_147193:exon3:c.C560G:p.A187G 0.21 0.11 0.16 0.19 0.3 0.33 0.2893 0.1350 0.1642 0.1681 0.2673 0.3324 0.3161 0.3596 0.26 0.13 0.33 0.15 0.22 rs35227000 COSM3751299 1(thyroid);3(large_intestine) . . . . . . . . . . . 0.133 0.264 T 0.0 0.026 B 0.001 0.040 B 0.336 0.140 N 1.000 0.090 P 2.2 0.622 M 2.83 0.108 T 0.03 0.066 N 0.039 0.049 -0.904 0.476 T 0.000 0.000 T . . . 0.250 0.118 5.197 0.957 0.269 0.093 0.149 N c -0.976 -0.989 1.000 0.747 0.526 0.212 0 -1.17 0.091 0.543 0.228 0.141 0.225 0.070 0.219 0.356 0.247 5.974 0.185 . . . 0.2821 0.1225 0.1616 0.4661 0.1630 0.2614 0.3231 0.2972 0.3636 0.2466 0.1295 0.1706 0.4570 0.1463 0.2647 0.3190 0.2872 het 462.81 35 1 54060016 . G C 462.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.546;DP=35;Dels=0.00;FS=4.856;HRun=2;HaplotypeScore=0.9993;MQ=59.21;MQ0=0;MQRankSum=0.116;QD=13.22;ReadPosRankSum=-0.414;VQSLOD=5.4439;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,16:35:99:493,0,545 1 54060248 54060248 T C exonic GLIS1 nonsynonymous SNV GLIS1:NM_147193:exon3:c.A328G:p.T110A 0.21 0.11 0.16 0.19 0.3 0.34 0.2853 0.1239 0.1595 0.1642 0.2620 0.3240 0.3082 0.3929 0.24 0.11 0.31 0.18 0.25 rs4307514 . . . . . . . . . . . . . 0.182 0.218 T 0.0 0.026 B 0.0 0.013 B 0.059 0.224 N 1 0.090 P 0 0.065 N 3.01 0.091 T 0.15 0.053 N 0.004 0.000 -0.910 0.469 T 0.000 0.000 T . . . -1.345 0.021 0.004 0.624 0.068 0.680 0.334 D c -1.203 -1.056 0.173 0.178 0.497 0.185 0 1.81 0.240 1.307 0.329 -0.269 0.086 0.984 0.356 0.197 0.217 5.501 0.160 . . . 0.2798 0.1193 0.1590 0.4597 0.1634 0.2599 0.3195 0.2901 0.3715 0.2457 0.1284 0.1706 0.4503 0.1475 0.2635 0.3180 0.2853 het 690.22 57 1 54060248 . T C 690.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.087;DP=57;Dels=0.00;FS=7.380;HRun=1;HaplotypeScore=0.0000;MQ=57.69;MQ0=1;MQRankSum=0.544;QD=12.11;ReadPosRankSum=1.829;VQSLOD=3.6359;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,25:57:99:720,0,746 1 54272121 54272121 T C exonic NDC1 nonsynonymous SNV NDC1:NM_001168551:exon9:c.A841G:p.S281G,NDC1:NM_018087:exon9:c.A961G:p.S321G . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.031 0.450 D 0.923 0.492 P 0.519 0.463 P 0.000 0.559 D 0.803 0.810 D 2.28 0.651 M 0.8 0.488 T -2.21 0.496 N 0.258 0.314 -0.743 0.583 T 0.144 0.467 T 0.033 0.548 D 4.042 0.543 23.7 0.996 0.745 0.686 0.336 D c 0.311 0.324 0.001 0.083 0.707 0.730 0 3.89 0.439 3.409 0.522 1.011 0.635 1.000 0.715 0.983 0.502 10.742 0.452 . . . . . . . . . . . . . . . . . . . . het 1252.90 91 1 54272121 . T C 1252.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.276;DP=91;Dels=0.00;FS=4.109;HRun=1;HaplotypeScore=0.9958;MQ=58.29;MQ0=0;MQRankSum=1.124;QD=13.77;ReadPosRankSum=0.095;VQSLOD=3.7113;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,54:91:99:1283,0,887 1 54605319 54605319 - C exonic CDCP2 frameshift insertion CDCP2:NM_201546:exon4:c.1223_1224insG:p.M409Hfs*44 0.48 0.36 0.66 0.39 0.65 0.43 0.6984 0.5965 0.7315 0.6180 0.7102 0.7214 0.7037 0.6507 . . . 0.48 0.18 rs36013100 COSM291917 1(oesophagus);1(thyroid);1(large_intestine);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7025 0.5773 0.7341 0.7177 0.6221 0.7044 0.7266 0.7123 0.6465 0.6907 0.5822 0.7289 0.6844 0.6332 0.6983 0.7389 0.7255 hom 3111.14 75 1 54605319 . G GC 3111.14 Mask AC=2;AF=1.00;AN=2;DP=75;FS=0.000;HRun=0;HaplotypeScore=149.7287;MQ=61.47;MQ0=0;QD=41.48;set=variant2 GT:AD:DP:GQ:PL 1/1:0,75:75:99:3153,226,0 1 54606804 54606804 C T exonic CDCP2 nonsynonymous SNV CDCP2:NM_201546:exon3:c.G730A:p.G244R 0.82 0.77 0.79 0.87 0.85 0.84 0.8286 0.7761 0.8163 0.8896 0.7689 0.8379 0.7955 0.8252 0.82 0.78 0.85 0.76 0.8 rs3766465 . . . . . . . . . . . . . 0.164 0.233 T 0.999 0.764 D 0.934 0.652 D 0.011 0.298 N 0.000 0.588 P 1.19 0.302 L 2.32 0.166 T -1.8 0.424 N 0.215 0.264 -1.107 0.033 T 0.000 0.000 T . . . 6.141 0.847 28.4 0.999 0.995 0.986 0.844 D c 0.699 0.729 1.000 0.747 0.487 0.133 0 5.57 0.840 7.518 0.806 0.935 0.490 1.000 0.715 0.980 0.490 19.547 0.953 CUB domain . . 0.8281 0.7698 0.8209 0.8804 0.8923 0.7660 0.8391 0.8224 0.8267 0.8160 0.7647 0.8294 0.8543 0.9044 0.7610 0.8470 0.8224 het 1173.92 97 1 54606804 . C T 1173.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.134;DP=97;Dels=0.00;FS=8.447;HRun=0;HaplotypeScore=1.9198;MQ=59.18;MQ0=0;MQRankSum=0.720;QD=12.10;ReadPosRankSum=-1.109;VQSLOD=4.8601;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,45:97:99:1204,0,1238 1 54607051 54607051 A G exonic CDCP2 synonymous SNV CDCP2:NM_201546:exon3:c.T483C:p.Y161Y 1. 0.99 1. 1. 1. 1. 0.9992 0.9911 0.9998 1 1 1.0000 1 1 1. 0.99 1. 1. 0.98 rs671103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9993 0.9899 0.9996 1 1 1 1.0000 0.9998 1 0.9963 0.9870 1 1 1 1 0.9999 1 hom 1668.86 56 1 54607051 . A G 1668.86 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;QD=29.80;VQSLOD=8.2559;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1702,135,0 1 54681920 54681920 G C exonic MRPL37 nonsynonymous SNV MRPL37:NM_001330602:exon6:c.G1097C:p.C366S,MRPL37:NM_016491:exon6:c.G1097C:p.C366S 0.58 0.61 0.64 0.4 0.79 0.47 0.6806 0.6441 0.6120 0.4196 0.7038 0.7749 0.6960 0.4965 0.74 0.66 0.78 0.65 0.81 rs13571 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.013 B 0.002 0.384 N 1 0.090 P -2.89 0.000 N 2.5 0.144 T 3.24 0.001 N 0.022 0.241 -0.990 0.325 T 0.000 0.000 T . . . -0.922 0.035 0.023 0.229 0.009 0.055 0.112 N c -0.886 -0.808 0.998 0.362 0.707 0.730 0 5.38 0.772 2.140 0.415 0.067 0.174 0.041 0.208 0.015 0.124 16.303 0.826 . ENSG00000116221.11|ENSG00000116221.11 Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.6778 0.6414 0.6205 0.7865 0.4181 0.7046 0.7741 0.7085 0.4944 0.6977 0.6433 0.6516 0.7848 0.3902 0.7022 0.7620 0.7016 het 1416.18 118 1 54681920 . G C 1416.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.240;DP=118;Dels=0.00;FS=0.747;HRun=0;HaplotypeScore=1.6828;MQ=59.61;MQ0=0;MQRankSum=-0.797;QD=12.00;ReadPosRankSum=1.584;VQSLOD=5.8953;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,49:118:99:1446,0,2099 1 54683856 54683856 C G exonic MRPL37 synonymous SNV MRPL37:NM_016491:exon7:c.C1206G:p.G402G 0.41 0.35 0.35 0.59 0.21 0.53 0.3170 0.3273 0.3875 0.5769 0.2974 0.2254 0.3029 0.5034 0.25 0.31 0.22 0.34 0.19 rs15921 COSM1162165 1(haematopoietic_and_lymphoid_tissue);2(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3201 0.3304 0.3785 0.2135 0.5775 0.2960 0.2260 0.2906 0.5054 0.2923 0.3230 0.3449 0.2152 0.6027 0.2978 0.2376 0.3004 het 2110.98 249 1 54683856 . C G 2110.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.723;DP=249;DS;Dels=0.00;FS=5.456;HRun=2;HaplotypeScore=7.0638;MQ=59.07;MQ0=0;MQRankSum=0.866;QD=8.48;ReadPosRankSum=0.055;VQSLOD=3.9462;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:159,89:249:99:2141,0,4287 1 55064970 55064970 C T exonic ACOT11 nonsynonymous SNV ACOT11:NM_015547:exon8:c.C766T:p.R256W,ACOT11:NM_147161:exon8:c.C766T:p.R256W 0.0036 . 0.0072 . 0.011 0.002 0.0133 0.0028 0.0031 0 0.0195 0.0200 0.0079 0.0043 0.015 0.0036 0.02 . 0.016 rs148238018 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 1 0.810 D 3.845 0.958 H 1.82 0.250 T -6.11 0.900 D 0.374 0.547 -0.430 0.711 T 0.152 0.482 T . . . 8.019 0.957 35 0.999 0.989 0.986 0.847 D c 0.916 0.822 1.000 0.747 0.646 0.450 0 5.27 0.737 7.674 0.830 0.870 0.379 1.000 0.715 0.701 0.310 18.886 0.923 HotDog domain|Hotdog acyl-CoA thioesterase (ACOT)-type domain|Thioesterase domain . . 0.0128 0.0026 0.0049 0.0099 6.101e-05 0.0192 0.0196 0.0141 0.0048 0.0132 0.0031 0.0042 0.0101 0 0.0194 0.0197 0.0162 het 2634.17 166 1 55064970 . C T 2634.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.368;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7861;MQ=59.44;MQ0=0;MQRankSum=-0.686;QD=15.87;ReadPosRankSum=1.184;VQSLOD=4.2595;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,94:166:99:2664,0,1948 1 55075452 55075452 G A exonic FAM151A nonsynonymous SNV FAM151A:NM_176782:exon8:c.C1247T:p.A416V 0.3 0.2 0.36 0.18 0.54 0.29 0.4116 0.2352 0.2571 0.1752 0.4447 0.5141 0.4053 0.3280 0.43 0.25 0.52 0.25 0.4 rs1368883 . . . . . . . . . . . . . 0.317 0.137 T 0.12 0.251 B 0.045 0.231 B 0.268 0.152 N 1 0.090 P 0.81 0.209 L 2.78 0.113 T -0.76 0.212 N 0.055 0.037 -0.962 0.388 T 0.000 0.000 T . . . 0.784 0.169 9.364 0.700 0.089 0.049 0.105 N c -0.794 -0.841 0.995 0.338 0.653 0.482 0 2.26 0.273 0.211 0.171 -0.215 0.099 0.000 0.063 0.001 0.043 7.210 0.249 . ENSG00000162390.13|ENSG00000184313.15|ENSG00000184313.15|ENSG00000271723.1|ENSG00000184313.15|ENSG00000271723.1|ENSG00000184313.15|ENSG00000184313.15|ENSG00000271723.1 Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Stomach|Thyroid|Thyroid 0.4072 0.2323 0.2682 0.4868 0.1704 0.4511 0.5164 0.4363 0.3283 0.4090 0.2399 0.3103 0.4833 0.1704 0.4605 0.5220 0.4611 het 461.40 54 1 55075452 . G A 461.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.962;DP=54;Dels=0.00;FS=5.765;HRun=0;HaplotypeScore=0.9995;MQ=59.65;MQ0=0;MQRankSum=0.472;QD=8.54;ReadPosRankSum=0.472;VQSLOD=5.3859;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,23:54:99:491,0,844 1 55119289 55119289 G C exonic MROH7 synonymous SNV MROH7:NM_001039464:exon3:c.G690C:p.L230L 0.42 0.27 0.41 0.52 0.59 0.35 0.5070 0.3241 0.3432 0.5385 0.5784 0.5849 0.4833 0.3718 0.52 0.37 0.59 0.4 0.55 rs9332417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5047 0.3178 0.3520 0.5231 0.5373 0.5924 0.5876 0.5261 0.3726 0.5097 0.3299 0.3914 0.5199 0.5174 0.5956 0.5970 0.5481 het 1545.82 122 1 55119289 . G C 1545.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.482;DP=122;Dels=0.00;FS=0.678;HRun=0;HaplotypeScore=1.9153;MQ=58.78;MQ0=0;MQRankSum=1.180;QD=12.67;ReadPosRankSum=0.380;VQSLOD=6.5074;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,57:122:99:1576,0,1699 1 55119534 55119534 C T exonic MROH7 nonsynonymous SNV MROH7:NM_001039464:exon3:c.C935T:p.S312F 0.1 0.086 0.14 0.002 0.22 0.082 0.1782 0.1085 0.1155 0.0005 0.1875 0.2358 0.1956 0.1192 0.2 0.11 0.24 0.17 0.2 rs17399810 COSM3751309;COSM3751307;COSM3751308 1(large_intestine) . . . . . . . . . . . 0.028 0.469 D 0.998 0.899 D 0.971 0.807 D 0.520 0.117 N 1 0.403 P 0.975 0.246 L 3.47 0.052 T -2.02 0.495 N 0.145 0.179 -0.920 0.456 T 0.000 0.000 T . . . 4.327 0.579 24.0 0.997 0.819 0.130 0.174 N c -0.023 -0.192 1.000 0.446 0.516 0.203 0 3.89 0.439 2.007 0.403 0.935 0.490 0.134 0.232 0.004 0.083 11.667 0.505 . . . 0.1779 0.1087 0.1192 0.2130 0.0005 0.1958 0.2417 0.1886 0.1181 0.1869 0.1073 0.1265 0.2086 0.0006 0.1971 0.2527 0.2067 het 4089.62 247 1 55119534 . C T 4089.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.838;DP=247;DS;Dels=0.00;FS=3.608;HRun=1;HaplotypeScore=8.5904;MQ=58.93;MQ0=0;MQRankSum=0.158;QD=16.56;ReadPosRankSum=-0.635;VQSLOD=4.2202;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,127:247:99:3460,0,3248 1 55119546 55119546 A G exonic MROH7 nonsynonymous SNV MROH7:NM_001039464:exon3:c.A947G:p.E316G 0.95 0.83 0.99 1. 1. 1. 0.9873 0.8614 0.9935 1 1 0.9986 0.9956 0.9999 0.96 0.88 1. 0.92 1. rs1655518 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.483 0.050 N 1 0.090 P -0.895 0.014 N 3.68 0.042 T 0.68 0.022 N 0.057 0.040 -0.993 0.319 T 0.000 0.000 T . . . -1.290 0.022 0.005 0.066 0.000 0.001 0.004 N c -1.617 -1.562 0.964 0.287 0.516 0.203 0 0.747 0.174 -0.090 0.110 -0.816 0.031 0.000 0.063 0.000 0.016 0.925 0.012 . . . 0.9889 0.8572 0.9923 0.9856 1 1 0.9991 0.9927 0.9997 0.9615 0.8666 0.9928 0.9901 1 1 0.9991 0.9929 hom 8205.93 247 1 55119546 . A G 8205.93 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6165;MQ=59.11;MQ0=0;QD=33.22;VQSLOD=7.2363;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,245:247:99:8179,638,0 1 55134585 55134585 A G exonic MROH7 nonsynonymous SNV MROH7:NM_001039464:exon5:c.A1364G:p.K455R 0.033 0.041 0.037 0.018 0.031 0.036 0.0242 0.0315 0.0161 0.0175 0.0085 0.0229 0.0311 0.0402 0.025 0.031 0.022 0.011 0.0082 rs2304314 . . . . . . . . . . . . . 0.039 0.599 D 0.998 0.715 D 0.942 0.713 D 0.014 0.286 N 1 0.810 D 3.175 0.890 M 3.25 0.068 T -1.09 0.283 N 0.176 0.244 -1.219 0.001 T 0.010 0.035 T . . . 5.090 0.686 25.3 0.956 0.266 0.686 0.336 D c 0.463 0.425 0.002 0.093 0.534 0.214 0 4.17 0.481 2.600 0.457 1.199 0.960 1.000 0.715 0.948 0.423 9.376 0.373 . . . 0.0240 0.0301 0.0176 0.0468 0.0165 0.0084 0.0222 0.0254 0.0428 0.0217 0.0287 0.0251 0.0596 0.0186 0.0083 0.0201 0.0236 het 2271.17 159 1 55134585 . A G 2271.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.083;DP=159;Dels=0.00;FS=2.171;HRun=1;HaplotypeScore=8.6346;MQ=57.90;MQ0=0;MQRankSum=1.169;QD=14.28;ReadPosRankSum=0.182;VQSLOD=4.2528;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,88:159:99:2301,0,1956 1 55139741 55139741 A G exonic MROH7 nonsynonymous SNV MROH7:NM_001291332:exon8:c.A407G:p.H136R,MROH7:NM_001039464:exon10:c.A1853G:p.H618R 0.91 0.93 0.86 1. 0.8 0.94 0.8441 0.9103 0.8978 0.9997 0.8471 0.7850 0.84 0.9236 0.83 0.91 0.79 0.85 0.79 rs570218 COSM3747020;COSM3747021;COSM3747022 1(liver) . . . . . . . . . . . 1.0 0.035 T 0.0 0.026 B 0.0 0.013 B 0.004 0.339 N 1.000 0.191 P -2.42 0.001 N 4.76 0.016 T 2.41 0.004 N 0.088 0.094 -1.010 0.269 T 0.000 0.000 T . . . 0.829 0.173 9.639 0.388 0.026 0.007 0.030 N c -0.901 -0.590 0.001 0.074 0.487 0.133 0 4.65 0.575 3.108 0.498 0.070 0.177 0.996 0.391 0.988 0.529 9.028 0.352 Armadillo-type fold . . 0.8448 0.9091 0.8924 0.8217 0.9996 0.8404 0.7794 0.8313 0.9243 0.8386 0.9098 0.8747 0.8344 1 0.8428 0.7774 0.8276 het 2205.82 186 1 55139741 . A G 2205.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.697;DP=186;Dels=0.00;FS=1.862;HRun=0;HaplotypeScore=1.8455;MQ=60.00;MQ0=0;MQRankSum=-0.027;QD=11.86;ReadPosRankSum=-1.779;VQSLOD=6.0180;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:95,91:186:99:2236,0,2405 1 55166842 55166842 C T exonic MROH7 synonymous SNV MROH7:NM_001291332:exon17:c.C1686T:p.P562P,MROH7:NM_001039464:exon19:c.C3132T:p.P1044P 0.25 0.26 0.22 0.11 0.32 0.32 0.2815 0.2719 0.1602 0.1009 0.3239 0.3146 0.2763 0.3165 0.29 0.26 0.3 0.29 0.3 rs1065173 COSM1126984;COSM1126986;COSM3747024 1(breast);1(liver);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2764 0.2709 0.1627 0.2583 0.0984 0.3258 0.3175 0.2884 0.3224 0.2854 0.2707 0.2010 0.3013 0.0821 0.3325 0.3093 0.2857 het 1117.99 90 1 55166842 . C T 1117.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.743;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9933;MQ=58.89;MQ0=0;MQRankSum=0.792;QD=12.42;ReadPosRankSum=-0.186;VQSLOD=6.0696;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,43:90:99:1148,0,1241 1 55167773 55167773 T A exonic MROH7 nonsynonymous SNV MROH7:NM_001291332:exon18:c.T1850A:p.V617D,MROH7:NM_001039464:exon20:c.T3296A:p.V1099D 0.92 0.99 0.93 0.94 0.83 0.89 0.8727 0.9710 0.9420 0.9364 0.8334 0.8398 0.8529 0.8821 0.88 0.97 0.83 0.96 0.86 rs646356 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.888 0.073 N 1.000 0.090 P -2.14 0.001 N 1.53 0.304 T 3.73 0.001 N 0.175 0.213 -0.985 0.338 T 0.000 0.000 T . . . 0.007 0.094 2.650 0.266 0.013 0.005 0.025 N c -1.512 -1.332 0.000 0.060 0.554 0.246 0 2.63 0.303 0.595 0.236 -0.250 0.090 0.294 0.250 0.003 0.074 5.071 0.138 Armadillo-like helical|Armadillo-type fold . . 0.8728 0.9753 0.9356 0.8604 0.9392 0.8314 0.8386 0.8658 0.8792 0.8744 0.9695 0.9332 0.8633 0.9400 0.8325 0.8215 0.8296 het 702.75 64 1 55167773 . T A 702.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.764;DP=64;Dels=0.00;FS=0.971;HRun=0;HaplotypeScore=0.7340;MQ=59.64;MQ0=0;MQRankSum=-0.901;QD=10.98;ReadPosRankSum=2.181;VQSLOD=5.4086;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,30:64:99:733,0,840 1 55223992 55223992 G A exonic PARS2 synonymous SNV PARS2:NM_152268:exon2:c.C843T:p.N281N 0.0028 . 0.0029 . 0.007 0.0051 0.0051 0.0012 0.0011 0 0.0151 0.0065 0.0066 0.0031 0.0049 0.002 0.0064 . . rs145005088 . . Benign not_specified RCV000444632.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0050 0.0010 0.0016 0.0078 0 0.0138 0.0058 0.0062 0.0029 0.0049 0.0009 0.0024 0.0066 0 0.0140 0.0054 0.0112 het 1606.78 140 1 55223992 . G A 1606.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.213;DP=140;Dels=0.00;FS=11.945;HRun=0;HaplotypeScore=5.1868;MQ=59.80;MQ0=0;MQRankSum=-0.142;QD=11.48;ReadPosRankSum=-0.929;VQSLOD=2.3653;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,63:140:99:1637,0,2252 1 55251689 55251689 T C exonic TTC22 synonymous SNV TTC22:NM_001114108:exon5:c.A987G:p.E329E,TTC22:NM_017904:exon5:c.A987G:p.E329E 1. 1. 1. 1. 1. 1. 0.9993 0.9926 0.9991 1 1 1 0.9989 1 1. 0.99 1. 1. 1. rs586462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9929 0.9995 1 1 1 1 0.9993 1 0.9975 0.9914 1 1 1 1 1 0.9990 hom 2906.47 83 1 55251689 . T C 2906.47 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8675;MQ=59.16;MQ0=0;QD=35.02;VQSLOD=8.7032;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2939,229,0 1 55266797 55266797 G C exonic TTC22 nonsynonymous SNV TTC22:NM_001114108:exon1:c.C40G:p.L14V,TTC22:NM_017904:exon1:c.C40G:p.L14V 0.15 0.026 0.23 0.26 0.24 0.071 0.1988 0.0583 0.2030 0.2903 0.2455 0.2280 0.2190 0.0948 0.15 0.057 0.2 0.087 0.16 rs671108 COSM3751313;COSM3751312 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.987 0.807 D 0.000 0.629 D 0.000 0.506 P 2.28 0.651 M 0.17 0.608 T -0.66 0.191 N 0.181 0.221 -1.148 0.011 T 0.000 0.000 T . . . 3.634 0.494 23.2 0.994 0.648 0.769 0.375 D c 0.514 0.456 1.000 0.747 0.598 0.340 0 4.13 0.475 1.990 0.401 0.923 0.433 1.000 0.715 0.988 0.529 15.674 0.770 . ENSG00000162398.7|ENSG00000162398.7 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.1968 0.0521 0.1999 0.2177 0.2895 0.2351 0.2190 0.2155 0.0954 0.1651 0.0541 0.1842 0.2086 0.3150 0.2460 0.1918 0.1810 het 440.62 51 1 55266797 . G C 440.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.117;DP=51;Dels=0.00;FS=1.144;HRun=0;HaplotypeScore=2.8127;MQ=58.44;MQ0=0;MQRankSum=0.160;QD=8.64;ReadPosRankSum=-1.259;VQSLOD=5.2392;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,20:51:99:471,0,900 1 55277599 55277599 T C exonic LEXM nonsynonymous SNV LEXM:NM_001110533:exon5:c.T613C:p.Y205H,LEXM:NM_152607:exon5:c.T613C:p.Y205H 1. 1. 1. 1. 1. 1. 1.0000 0.9995 1 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs600499 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9995 1 1 1 1 1 1 1 0.9999 0.9998 1 1 1 1 1 1 hom 3438.46 107 1 55277599 . T C 3438.46 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6722;MQ=58.64;MQ0=0;QD=32.14;VQSLOD=8.4442;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3438,271,0 1 55523033 55523033 A G exonic PCSK9 synonymous SNV PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q 0.98 0.93 1. 1. 1. 1. 0.9945 0.9420 0.9982 1 0.9997 0.9996 0.9956 0.9999 0.98 0.94 1. 0.96 1. rs509504 . . Benign|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000249882.2|RCV000256296.2|RCV000337265.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9958 0.9412 0.9974 1 1 0.9999 0.9997 0.9982 0.9999 0.9829 0.9397 0.9976 1 1 1 1 1 hom 4635.56 144 1 55523033 . A G 4635.56 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.1527;MQ=59.10;MQ0=0;QD=32.19;VQSLOD=7.0055;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4635,370,0 1 55524197 55524197 A G exonic PCSK9 synonymous SNV PCSK9:NM_174936:exon9:c.A1380G:p.V460V 0.87 0.77 0.89 0.99 0.82 0.91 0.8544 0.7851 0.9245 0.9914 0.8257 0.8326 0.8794 0.8751 0.82 0.79 0.83 0.86 0.86 rs540796 COSM3747025 1(liver) Benign|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000182574.3|RCV000256294.2|RCV000273530.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8564 0.7858 0.9148 0.8146 0.9923 0.8273 0.8316 0.8674 0.8739 0.8316 0.7927 0.9069 0.8245 0.9988 0.8171 0.8337 0.8582 hom 4298.01 144 1 55524197 . A G 4298.01 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2135;MQ=58.86;MQ0=0;QD=29.85;VQSLOD=9.0514;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4297,331,0 1 55524237 55524237 G A exonic PCSK9 nonsynonymous SNV PCSK9:NM_174936:exon9:c.G1420A:p.V474I 0.87 0.77 0.89 0.99 0.82 0.9 0.8544 0.7853 0.9244 0.9914 0.8255 0.8327 0.8794 0.8751 0.82 0.79 0.83 0.83 0.84 rs562556 COSM3722998 1(thyroid);1(upper_aerodigestive_tract) Benign|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000182572.3|RCV000256256.2|RCV000330942.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 . . . . . . 0.412 0.101 T 0.013 0.154 B 0.002 0.063 B 0.007 0.012 N 1 0.090 P 1.555 0.395 L -0.52 0.707 T -0.27 0.114 N 0.043 0.023 -0.970 0.373 T 0.000 0.000 T . . . -1.303 0.022 0.004 0.829 0.140 0.055 0.112 N c -1.808 -1.932 1.000 0.747 0.706 0.609 0 -8.95 0.007 -0.619 0.056 -2.003 0.005 0.000 0.063 0.000 0.016 3.846 0.084 . ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8564 0.7858 0.9147 0.8146 0.9923 0.8273 0.8316 0.8674 0.8738 0.8315 0.7928 0.9069 0.8245 0.9988 0.8170 0.8334 0.8571 hom 2609.38 84 1 55524237 . G A 2609.38 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3888;MQ=58.89;MQ0=0;QD=31.06;VQSLOD=8.9310;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2642,223,0 1 55529187 55529187 G A exonic PCSK9 nonsynonymous SNV PCSK9:NM_174936:exon12:c.G2009A:p.G670E 0.9 0.71 0.96 0.96 0.97 0.97 0.9433 0.7414 0.9754 0.9460 0.9444 0.9603 0.9553 0.9753 0.89 0.74 0.96 0.77 0.84 rs505151 . . other|Benign|Likely benign Familial_hypercholesterolemia|not_specified|Familial_hypobetalipoproteinemia RCV000030349.2|RCV000252382.2|RCV000364880.1 MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT C0020445:143890:397915002:398036000|CN169374|C1862596:ORPHA426:60193003 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.339 0.140 N 1 0.090 P -2.34 0.001 N -0.35 0.686 T 0.52 0.029 N 0.02 0.004 -0.976 0.359 T 0.000 0.000 T . . . -1.402 0.019 0.003 0.586 0.059 0.010 0.038 N c -1.609 -1.587 1.000 0.405 0.706 0.609 0 0.348 0.152 0.938 0.284 0.188 0.248 0.003 0.159 0.001 0.043 4.570 0.115 . . . 0.9481 0.7361 0.9728 0.9461 0.9480 0.9464 0.9621 0.9565 0.9757 0.8930 0.7349 0.9761 0.9437 0.9427 0.9485 0.9569 0.9532 hom 2378.82 78 1 55529187 . G A 2378.82 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7249;MQ=58.58;MQ0=0;QD=30.50;VQSLOD=8.7871;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2412,193,0 1 55541174 55541174 A G exonic USP24 nonsynonymous SNV USP24:NM_015306:exon63:c.T7403C:p.V2468A 0.69 0.26 0.85 0.92 0.77 0.85 0.7697 0.3596 0.8929 0.9040 0.7798 0.7696 0.7990 0.8326 0.64 0.36 0.77 0.64 . rs487230 COSM3747027;COSM3747026 1(liver) . . . . . . . . . . . 0.367 0.116 T 0.0 0.026 B 0.001 0.040 B 0.001 0.431 D 0.695 0.301 P 0.49 0.133 N 4.45 0.022 T -0.4 0.138 N 0.217 0.266 -1.024 0.222 T 0.000 0.000 T . . . 1.608 0.255 13.90 0.982 0.383 0.952 0.637 D c -0.420 -0.175 0.866 0.253 0.732 0.924 0 4.22 0.490 5.115 0.643 1.199 0.960 1.000 0.715 0.998 0.697 11.412 0.490 . ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7669 0.3073 0.8767 0.7234 0.9074 0.7706 0.7606 0.7961 0.8240 0.6462 0.3206 0.8628 0.7318 0.9105 0.7738 0.7544 0.7862 hom 466.35 19 1 55541174 . A G 466.35 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.74;MQ0=0;QD=24.54;VQSLOD=7.6237;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:36.12:499,36,0 1 55638075 55638075 G A exonic USP24 nonsynonymous SNV USP24:NM_015306:exon4:c.C677T:p.T226I 0.91 0.87 0.92 0.99 0.84 0.93 0.8763 0.8657 0.9395 0.9952 0.8756 0.8457 0.9004 0.8990 0.85 0.87 0.84 0.91 . rs1165222 COSM3747031;COSM3747030 1(liver) . . . . . . . . . . . 0.669 0.046 T 0.0 0.026 B 0.0 0.013 B 0.125 0.188 N 1.000 0.090 P -1.39 0.006 N 4.43 0.022 T 0.47 0.031 N 0.025 0.007 -0.996 0.309 T 0.000 0.000 T . . . 1.469 0.239 13.15 0.737 0.101 0.400 0.261 N c -0.681 -0.448 0.001 0.082 0.732 0.924 0 2.19 0.268 2.994 0.489 -0.166 0.106 0.998 0.411 0.995 0.604 9.352 0.371 . ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8 Adipose_Subcutaneous|Artery_Tibial|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8773 0.8662 0.9290 0.8180 0.9959 0.8774 0.8444 0.8845 0.8967 0.8669 0.8613 0.9211 0.8278 0.9969 0.8703 0.8517 0.8880 hom 853.18 28 1 55638075 . G A 853.18 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.47;VQSLOD=14.1445;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:69.22:886,69,0 1 57340727 57340727 C A exonic C8A nonsynonymous SNV C8A:NM_000562:exon3:c.C277A:p.Q93K 0.34 0.18 0.25 0.5 0.34 0.48 0.3684 0.2120 0.2106 0.4553 0.3488 0.3787 0.3850 0.4968 0.32 0.21 0.38 0.34 0.34 rs652785 COSM4417048 1(haematopoietic_and_lymphoid_tissue) Benign|Benign COMPLEMENT_COMPONENT_8\x2c_ALPHA_SUBUNIT\x2c_A/B_POLYMORPHISM|not_specified RCV000018567.2|RCV000455609.1 MedGen CN169374 . . . . . . 0.639 0.050 T 0.048 0.207 B 0.012 0.149 B 0.481 0.122 N 1 0.090 P -0.255 0.038 N -0.91 0.750 T -0.91 0.245 N 0.065 0.051 -0.991 0.323 T 0.000 0.000 T . . . -0.648 0.047 0.096 0.654 0.075 0.045 0.100 N c -0.612 -0.599 0.937 0.272 0.487 0.133 0 3.42 0.381 0.033 0.135 0.935 0.490 0.000 0.063 0.333 0.243 10.121 0.416 Growth factor receptor cysteine-rich domain . . 0.3654 0.2046 0.2100 0.4077 0.4640 0.3495 0.3822 0.3583 0.4983 0.3259 0.2097 0.2231 0.4133 0.4590 0.3321 0.3796 0.3602 het 869.26 75 1 57340727 . C A 869.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.922;DP=75;Dels=0.00;FS=0.883;HRun=2;HaplotypeScore=0.0000;MQ=57.74;MQ0=0;MQRankSum=-0.496;QD=11.59;ReadPosRankSum=0.838;VQSLOD=4.8421;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,33:75:99:899,0,1158 1 57395228 57395228 G A exonic C8B nonsynonymous SNV C8B:NM_000066:exon12:c.C1625T:p.T542I,C8B:NM_001278543:exon13:c.C1469T:p.T490I,C8B:NM_001278544:exon13:c.C1439T:p.T480I 0.0026 0.0015 0.0029 . 0.006 0.0031 0.0050 0.0012 0.0028 0 0.0018 0.0077 0.0066 0.0021 0.0068 0.0018 0.0094 . . rs61737417 . . . . . . . . . . . . . 0.894 0.099 T 0.0 0.026 B 0.0 0.013 B 0.253 0.155 N 1 0.090 N -0.955 0.012 N 1.82 0.276 T -0.39 0.170 N 0.042 0.162 -1.038 0.178 T 0.018 0.077 T 0.003 0.053 T -0.850 0.038 0.033 0.045 0.000 0.007 0.029 N c -1.134 -1.071 0.002 0.089 0.487 0.133 0 3.75 0.421 2.202 0.421 0.244 0.267 0.139 0.233 0.032 0.149 2.259 0.038 . . . 0.0050 0.0012 0.0034 0.0005 0 0.0021 0.0087 0.0035 0.0020 0.0052 0.0011 0.0060 0 0 0.0017 0.0089 0.0061 het 1062.01 85 1 57395228 . G A 1062.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.765;DP=85;Dels=0.00;FS=4.328;HRun=0;HaplotypeScore=0.9665;MQ=59.73;MQ0=0;MQRankSum=-1.114;QD=12.49;ReadPosRankSum=1.730;VQSLOD=4.8496;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,45:85:99:1092,0,996 1 57422484 57422484 C T exonic C8B nonsynonymous SNV C8B:NM_000066:exon3:c.G349A:p.G117R,C8B:NM_001278543:exon4:c.G193A:p.G65R,C8B:NM_001278544:exon4:c.G163A:p.G55R 0.99 1. 0.97 1. 0.97 0.99 0.9773 0.9937 0.9774 0.9999 0.9835 0.9683 0.9703 0.9896 0.98 0.99 0.97 0.97 0.95 rs1013579 . . . . . . . . . . . . . 1.0 0.024 T 0.0 0.026 B 0.0 0.013 B 0.014 0.286 N 1.000 0.182 P . . . 1.89 0.267 T 2.86 0.002 N 0.173 0.210 -0.949 0.412 T 0.000 0.000 T . . . 1.761 0.273 14.76 0.531 0.048 0.104 0.157 N c -0.712 -0.587 0.254 0.187 0.487 0.133 0 -0.165 0.126 0.950 0.285 0.154 0.240 1.000 0.715 0.981 0.494 10.316 0.427 . . . 0.9774 0.9946 0.9760 0.9735 0.9999 0.9818 0.9687 0.9655 0.9896 0.9785 0.9945 0.9821 0.9702 1 0.9794 0.9666 0.9786 hom 8583.55 250 1 57422484 . C T 8583.55 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5488;MQ=59.35;MQ0=0;QD=34.33;VQSLOD=8.9905;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8583,680,0 1 59002221 59002221 T C exonic OMA1 synonymous SNV OMA1:NM_145243:exon3:c.A693G:p.E231E 0.15 0.23 0.1 0.14 0.12 0.1 0.1183 0.1885 0.0736 0.1229 0.0938 0.1179 0.1192 0.1145 0.14 0.18 0.12 0.21 0.12 rs7537470 COSM3751322;COSM3751321 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1134 0.1926 0.0723 0.1175 0.1243 0.0967 0.1148 0.1292 0.1156 0.1331 0.1921 0.1038 0.1358 0.1180 0.0950 0.1128 0.1033 het 975.55 73 1 59002221 . T C 975.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.040;DP=73;Dels=0.00;FS=0.936;HRun=0;HaplotypeScore=1.9990;MQ=57.98;MQ0=0;MQRankSum=2.123;QD=13.36;ReadPosRankSum=0.094;VQSLOD=5.0080;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,40:73:99:1006,0,774 1 59002282 59002282 A C exonic OMA1 nonsynonymous SNV OMA1:NM_145243:exon3:c.T632G:p.F211C 0.045 0.0083 0.011 0.14 0.0089 0.06 0.0262 0.0085 0.0103 0.1207 0.0192 0.0133 0.0297 0.0539 0.011 0.0098 0.012 0.054 0.033 rs17117699 . . . . . . . . . . . . . 0.003 0.721 D 0.999 0.764 D 0.887 0.654 P 0.000 0.843 D 0.000 0.537 P 2.47 0.719 M 2.29 0.288 T -3.88 0.727 D 0.378 0.525 -1.105 0.035 T 0.003 0.010 T . . . 5.751 0.786 27.0 0.995 0.682 0.975 0.751 D c 0.365 0.446 0.931 0.270 0.732 0.924 0 5.49 0.809 5.636 0.673 1.197 0.919 1.000 0.715 1.000 0.888 15.778 0.779 . ENSG00000162600.7 Muscle_Skeletal 0.0264 0.0092 0.0099 0.0128 0.1226 0.0209 0.0134 0.0206 0.0551 0.0188 0.0104 0.0107 0.0166 0.1157 0.0209 0.0137 0.0132 het 1190.22 74 1 59002282 . A C 1190.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.454;DP=74;Dels=0.00;FS=3.195;HRun=0;HaplotypeScore=1.6918;MQ=58.93;MQ0=0;MQRankSum=-1.009;QD=16.08;ReadPosRankSum=1.109;VQSLOD=5.5972;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,46:74:99:1220,0,701 1 59004617 59004617 G A exonic OMA1 nonsynonymous SNV OMA1:NM_145243:exon2:c.C350T:p.P117L 0.042 . 0.01 0.14 0.0089 0.06 0.0257 0.0033 0.0098 0.1207 0.0191 0.0133 0.0242 0.0538 0.0089 0.003 0.012 0.054 0.025 rs17117720 . . . . . . . . . . . . . 0.005 0.632 D 0.016 0.522 B 0.007 0.438 B 0.057 0.225 N 1.000 0.186 P 1.7 0.440 L 2.47 0.336 T -1.96 0.745 N 0.136 0.319 -1.074 0.085 T 0.001 0.003 T . . . 0.879 0.178 9.940 0.606 0.063 0.040 0.092 N c -0.365 -0.427 0.000 0.071 0.707 0.730 0 4.04 0.461 -0.598 0.058 1.048 0.713 0.000 0.063 0.018 0.130 5.631 0.167 . ENSG00000162600.7 Muscle_Skeletal 0.0259 0.0041 0.0094 0.0128 0.1225 0.0209 0.0134 0.0202 0.0550 0.0167 0.0033 0.0095 0.0166 0.1146 0.0206 0.0137 0.0132 het 1776.90 141 1 59004617 . G A 1776.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.196;DP=141;Dels=0.00;FS=4.272;HRun=1;HaplotypeScore=5.2096;MQ=59.10;MQ0=0;MQRankSum=-1.069;QD=12.60;ReadPosRankSum=1.404;VQSLOD=4.4970;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,65:141:99:1807,0,2076 1 59042181 59042181 G T exonic TACSTD2 nonsynonymous SNV TACSTD2:NM_002353:exon1:c.C648A:p.D216E 0.16 0.34 0.053 0.14 0.05 0.11 0.0976 0.3516 0.0367 0.1247 0.0514 0.0730 0.0774 0.0948 0.15 0.31 0.067 0.17 0.082 rs14008 . . Likely benign Corneal_Dystrophy\x2c_Dominant/Recessive RCV000352006.1 MedGen CN239339 . . . . . . 0.191 0.210 T 0.057 0.214 B 0.02 0.179 B 0.037 0.244 N 0.782 0.293 P 1.015 0.255 L -1.1 0.773 T -2.52 0.547 D 0.084 0.078 -1.065 0.107 T 0.000 0.000 T . . . 1.626 0.257 14.00 0.941 0.237 0.426 0.267 N c -0.663 -0.576 1.000 0.747 0.765 0.991 0 0.165 0.142 0.002 0.129 0.884 0.388 0.989 0.365 0.955 0.433 5.126 0.141 . . . 0.0860 0.3354 0.0364 0.0915 0.1228 0.0501 0.0682 0.0667 0.0930 0.1431 0.3356 0.0406 0.0894 0.1168 0.0512 0.0672 0.0663 het 180.52 30 1 59042181 . G T 180.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.003;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.966;QD=6.02;ReadPosRankSum=0.118;VQSLOD=10.4384;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,9:30:99:211,0,506 1 59127086 59127086 G A exonic MYSM1 synonymous SNV MYSM1:NM_001085487:exon18:c.C2262T:p.L754L 0.25 0.13 0.24 0.31 0.28 0.3 0.2821 0.1663 0.2917 0.2790 0.2003 0.2937 0.2709 0.3337 0.26 0.17 0.29 0.25 0.22 rs7523134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2809 0.1647 0.2878 0.3360 0.2817 0.1995 0.2933 0.2973 0.3247 0.2348 0.1666 0.2962 0.3775 0.2624 0.1981 0.2719 0.2638 het 418.07 27 1 59127086 . G A 418.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.080;DP=27;Dels=0.00;FS=1.599;HRun=1;HaplotypeScore=0.8321;MQ=58.27;MQ0=0;MQRankSum=0.377;QD=15.48;ReadPosRankSum=1.381;VQSLOD=5.2062;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,17:27:99:448,0,240 1 59142713 59142713 T C exonic MYSM1 synonymous SNV MYSM1:NM_001085487:exon9:c.A1275G:p.P425P 0.65 0.71 0.67 0.63 0.59 0.62 0.6118 0.6863 0.6487 0.6532 0.7191 0.5819 0.6111 0.5978 0.61 0.67 0.58 0.63 0.65 rs579110 COSM3751324 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6125 0.6879 0.6426 0.5059 0.6508 0.7163 0.5807 0.5969 0.5991 0.6555 0.6939 0.6376 0.4901 0.6714 0.7215 0.6210 0.6462 het 1844.47 175 1 59142713 . T C 1844.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.338;DP=175;Dels=0.00;FS=1.939;HRun=0;HaplotypeScore=6.7101;MQ=58.88;MQ0=0;MQRankSum=-0.626;QD=10.54;ReadPosRankSum=0.301;VQSLOD=4.6947;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,82:175:99:1874,0,2151 1 59147926 59147926 T C exonic MYSM1 nonsynonymous SNV MYSM1:NM_001085487:exon8:c.A790G:p.T264A 0.63 0.66 0.66 0.63 0.59 0.62 0.6078 0.6343 0.6473 0.6527 0.7204 0.5826 0.6078 0.5977 0.59 0.62 0.58 0.59 0.66 rs12139511 COSM3751325 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.933 0.075 N 1 0.090 P -1.61 0.004 N 2.01 0.213 T 0.11 0.057 N 0.008 0.000 -0.946 0.417 T 0.000 0.000 T . . . -1.412 0.019 0.003 0.127 0.002 0.012 0.043 N c -1.354 -1.283 0.002 0.089 0.660 0.495 0 0.948 0.186 0.227 0.174 -0.052 0.122 0.001 0.137 0.908 0.386 0.666 0.008 . ENSG00000162601.5|ENSG00000162601.5|ENSG00000162601.5|ENSG00000162601.5|ENSG00000162601.5|ENSG00000162601.5 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Pancreas|Thyroid 0.6088 0.6348 0.6377 0.5067 0.6498 0.7171 0.5811 0.5917 0.5986 0.6411 0.6393 0.6328 0.4933 0.6714 0.7224 0.6231 0.6462 het 1584.27 146 1 59147926 . T C 1584.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.887;DP=146;Dels=0.00;FS=10.240;HRun=0;HaplotypeScore=5.5652;MQ=59.17;MQ0=0;MQRankSum=0.242;QD=10.85;ReadPosRankSum=-1.093;VQSLOD=3.9358;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,62:146:99:1614,0,2189 1 59247993 59247993 C T exonic JUN synonymous SNV JUN:NM_002228:exon1:c.G750A:p.Q250Q 0.089 0.25 0.055 0.024 0.039 0.016 0.0575 0.2118 0.0282 0.0292 0.0540 0.0526 0.0588 0.0184 0.1 0.2 0.05 0.043 0.041 rs11688 COSM3751326 1(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0529 0.2157 0.0324 0.0189 0.0284 0.0487 0.0538 0.0514 0.0185 0.0934 0.2059 0.0430 0.0199 0.0241 0.0475 0.0527 0.0591 het 1667.14 132 1 59247993 . C T 1667.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.938;DP=132;Dels=0.00;FS=1.391;HRun=1;HaplotypeScore=1.7882;MQ=59.18;MQ0=0;MQRankSum=0.633;QD=12.63;ReadPosRankSum=0.578;VQSLOD=6.8576;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,65:132:99:1697,0,1850 1 59787350 59787350 T G exonic FGGY nonsynonymous SNV FGGY:NM_001113411:exon2:c.T129G:p.N43K,FGGY:NM_001244714:exon2:c.T129G:p.N43K,FGGY:NM_001350790:exon2:c.T129G:p.N43K,FGGY:NM_001350791:exon2:c.T129G:p.N43K,FGGY:NM_001350794:exon2:c.T129G:p.N43K,FGGY:NM_001350795:exon2:c.T129G:p.N43K,FGGY:NM_018291:exon2:c.T129G:p.N43K 0.47 0.55 0.41 0.48 0.35 0.51 0.4018 0.5256 0.3802 0.5190 0.4147 0.3557 0.3990 0.4599 0.39 0.51 0.34 0.46 . rs835409 COSM146529 1(stomach);1(pancreas);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.647 0.100 T 0.0 0.026 B 0.0 0.013 B 0.024 0.264 N 1 0.090 P -0.895 0.014 N 0.37 0.577 T 0.39 0.042 N 0.01 0.129 -0.931 0.440 T 0.000 0.000 T . . . 0.966 0.186 10.47 0.924 0.213 0.019 0.058 N c -1.168 -1.097 0.014 0.126 0.638 0.428 0 0.051 0.136 -1.277 0.029 -0.334 0.073 0.000 0.063 0.962 0.444 1.322 0.020 Carbohydrate kinase\x2c FGGY\x2c N-terminal ENSG00000270457.1 Muscle_Skeletal 0.3861 0.5149 0.3650 0.3537 0.5089 0.4038 0.3402 0.3734 0.4423 0.4120 0.5186 0.3675 0.3543 0.5031 0.4123 0.3472 0.3609 het 413.77 32 1 59787350 . T G 413.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.906;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6289;MQ=59.28;MQ0=0;MQRankSum=-0.302;QD=12.93;ReadPosRankSum=-2.266;VQSLOD=4.1806;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,17:32:99:444,0,412 1 59844471 59844471 G A exonic FGGY synonymous SNV FGGY:NM_001244714:exon3:c.G252A:p.P84P,FGGY:NM_001350795:exon3:c.G252A:p.P84P,FGGY:NM_001350796:exon4:c.G180A:p.P60P,FGGY:NM_001350797:exon4:c.G114A:p.P38P,FGGY:NM_001350798:exon4:c.G180A:p.P60P,FGGY:NM_001350799:exon4:c.G180A:p.P60P,FGGY:NM_001113411:exon5:c.G516A:p.P172P,FGGY:NM_001350790:exon5:c.G516A:p.P172P,FGGY:NM_001350791:exon5:c.G516A:p.P172P,FGGY:NM_001350794:exon5:c.G516A:p.P172P,FGGY:NM_018291:exon5:c.G516A:p.P172P,FGGY:NM_001350792:exon7:c.G348A:p.P116P,FGGY:NM_001350793:exon7:c.G348A:p.P116P 0.49 0.68 0.41 0.43 0.4 0.47 0.4233 0.6345 0.3870 0.4865 0.4775 0.3826 0.4053 0.4263 0.46 0.63 0.38 0.55 0.37 rs835435 COSM3997615;COSM3997616 1(breast);1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4198 0.6391 0.3896 0.3730 0.4904 0.4814 0.3795 0.4049 0.4233 0.4826 0.6357 0.4033 0.3411 0.4863 0.4883 0.4037 0.4122 het 646.84 57 1 59844471 . G A 646.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.433;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.01;MQ0=0;MQRankSum=0.549;QD=11.35;ReadPosRankSum=-0.467;VQSLOD=6.2372;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,28:57:99:677,0,667 1 60466814 60466814 T C exonic C1orf87 nonsynonymous SNV C1orf87:NM_152377:exon10:c.A1207G:p.K403E 0.55 0.61 0.62 0.63 0.45 0.45 0.5038 0.6074 0.6289 0.6450 0.4400 0.4675 0.5251 0.4465 0.51 0.6 0.46 0.59 0.48 rs626251 COSM3751332;COSM3751331 1(oesophagus);1(large_intestine) . . . . . . . . . . . 1.0 0.027 T 0.0 0.026 B 0.0 0.013 B 0.161 0.177 N 1 0.090 P -0.28 0.037 N 2.43 0.153 T 0.63 0.033 N 0.005 0.241 -0.951 0.408 T 0.000 0.000 T . . . -1.179 0.026 0.007 0.323 0.019 0.001 0.006 N c -1.307 -1.237 0.000 0.035 0.554 0.246 0 2.19 0.268 0.131 0.156 -0.819 0.031 0.001 0.137 0.006 0.095 6.824 0.229 . . . 0.5003 0.6063 0.6228 0.5615 0.6420 0.4445 0.4547 0.5030 0.4440 0.5077 0.6008 0.6129 0.6067 0.6517 0.4395 0.4487 0.4640 het 225.81 18 1 60466814 . T C 225.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.400;DP=18;Dels=0.00;FS=4.598;HRun=1;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;MQRankSum=0.844;QD=12.54;ReadPosRankSum=0.489;VQSLOD=4.3327;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,10:18:99:256,0,188 1 60506762 60506762 G A exonic C1orf87 synonymous SNV C1orf87:NM_152377:exon4:c.C384T:p.T128T 0.053 0.023 0.072 0.065 0.075 0.046 0.0581 0.0298 0.0591 0.0723 0.0360 0.0675 0.0629 0.0383 0.06 0.03 0.075 0.11 0.041 rs74843231 COSM146530 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0588 0.0295 0.0611 0.0470 0.0699 0.0363 0.0720 0.0557 0.0377 0.0564 0.0300 0.0716 0.0563 0.0581 0.0373 0.0742 0.0704 het 1075.08 90 1 60506762 . G A 1075.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.517;DP=90;Dels=0.00;FS=1.864;HRun=0;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;MQRankSum=1.475;QD=11.95;ReadPosRankSum=0.176;VQSLOD=5.8472;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,38:90:99:1105,0,1451 1 62232031 62232031 C T exonic PATJ synonymous SNV PATJ:NM_001350145:exon4:c.C270T:p.I90I,PATJ:NM_176877:exon4:c.C270T:p.I90I 0.91 0.7 0.97 1. 0.98 0.99 0.9636 0.7373 0.9826 0.9998 0.9852 0.9819 0.9725 0.9906 0.9 0.75 0.98 0.88 0.96 rs1286835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9680 0.7313 0.9795 0.9757 0.9999 0.9860 0.9814 0.9722 0.9904 0.9132 0.7292 0.9761 0.9834 1 0.9894 0.9845 0.9695 hom 3224.61 108 1 62232031 . C T 3224.61 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.98;MQ0=0;QD=29.86;VQSLOD=8.1817;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3258,259,0 1 62257036 62257036 A C exonic PATJ nonsynonymous SNV PATJ:NM_001350145:exon9:c.A1085C:p.E362A,PATJ:NM_176877:exon9:c.A1085C:p.E362A 0.046 0.0061 0.063 0.025 0.12 0.03 0.0798 0.0217 0.0551 0.0271 0.0646 0.1127 0.1002 0.0332 0.083 0.022 0.12 0.043 0.074 rs1286823 . . . . . . . . . . . . . 0.004 0.654 D 0.972 0.554 D 0.926 0.644 D 0.000 0.559 D 0.002 0.444 P 2.43 0.707 M 2.18 0.189 T -4.4 0.773 D 0.167 0.202 -1.090 0.055 T 0.001 0.004 T . . . 4.299 0.576 24.0 0.996 0.721 0.951 0.632 D c 0.334 0.340 0.024 0.135 0.706 0.609 0 5.17 0.707 6.382 0.729 1.199 0.960 1.000 0.715 0.993 0.574 10.415 0.433 PDZ domain . . 0.0809 0.0202 0.0610 0.1157 0.0255 0.0619 0.1168 0.0942 0.0336 0.0769 0.0223 0.0837 0.0993 0.0296 0.0655 0.1149 0.0876 het 952.48 94 1 62257036 . A C 952.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.020;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4826;MQ=59.14;MQ0=0;MQRankSum=1.235;QD=10.13;ReadPosRankSum=-1.434;VQSLOD=5.6279;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,40:94:99:982,0,1310 1 62330080 62330080 T G exonic PATJ nonsynonymous SNV PATJ:NM_001350145:exon20:c.T2610G:p.I870M,PATJ:NM_176877:exon20:c.T2610G:p.I870M 0.99 0.97 1. 1. 1. 1. 0.9968 0.9643 0.9992 1 1 0.9999 1 1 0.99 0.96 1. 1. 1. rs2799627 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.391 N 1.000 0.090 P -2.595 0.000 N 2.95 0.097 T 1.89 0.005 N 0.212 0.260 -0.973 0.366 T 0.000 0.000 T . . . 0.349 0.128 6.155 0.101 0.001 0.036 0.087 N c -0.836 -0.531 0.270 0.189 0.706 0.609 0 4.57 0.557 5.238 0.650 0.073 0.181 1.000 0.715 0.996 0.625 10.670 0.448 . . . 0.9975 0.9631 0.9988 1 1 1 0.9999 0.9987 1 0.9897 0.9642 0.9976 1 1 1 1 0.9949 hom 2514.68 78 1 62330080 . T G 2514.68 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=32.24;VQSLOD=9.3702;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2548,196,0 1 62330134 62330134 G A exonic PATJ synonymous SNV PATJ:NM_001350145:exon20:c.G2664A:p.L888L,PATJ:NM_176877:exon20:c.G2664A:p.L888L 0.003 0.0008 . . 0.012 0.002 0.0082 0.0019 0.0060 0 0.0204 0.0109 0.0132 0.0016 0.0078 0.0023 0.011 . 0.016 rs4915787 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0079 0.0018 0.0036 0.0015 0 0.0194 0.0110 0.0115 0.0013 0.0098 0.0021 0.0012 0 0 0.0235 0.0131 0.0071 het 1741.01 131 1 62330134 . G A 1741.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.815;DP=131;Dels=0.00;FS=7.335;HRun=0;HaplotypeScore=0.6651;MQ=59.01;MQ0=0;MQRankSum=1.214;QD=13.29;ReadPosRankSum=0.882;VQSLOD=5.0135;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,68:131:99:1771,0,1809 1 62380270 62380270 C T exonic PATJ synonymous SNV PATJ:NM_001350145:exon26:c.C3504T:p.N1168N,PATJ:NM_176877:exon26:c.C3504T:p.N1168N 0.78 0.89 0.84 0.74 0.72 0.67 0.7480 0.8884 0.8189 0.7420 0.7528 0.7320 0.7114 0.6778 0.79 0.88 0.75 0.87 0.34 rs1134766 COSM3751339 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7468 0.8865 0.8226 0.5531 0.7372 0.7597 0.7429 0.7259 0.6682 0.7873 0.8765 0.8206 0.5967 0.7608 0.7586 0.7485 0.7633 het 2053.65 210 1 62380270 . C T 2053.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.696;DP=210;Dels=0.00;FS=2.415;HRun=0;HaplotypeScore=5.9293;MQ=58.56;MQ0=0;MQRankSum=0.198;QD=9.78;ReadPosRankSum=0.682;VQSLOD=4.1471;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:116,94:210:99:2084,0,2821 1 62579823 62579823 G A exonic PATJ synonymous SNV PATJ:NM_001350145:exon35:c.G4560A:p.E1520E,PATJ:NM_176877:exon35:c.G4560A:p.E1520E 0.61 0.42 0.72 0.75 0.66 0.59 0.6621 0.4582 0.7664 0.7816 0.5669 0.6837 0.6578 0.6058 0.62 0.47 0.7 0.54 0.75 rs1475563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6695 0.4551 0.7626 0.7368 0.7881 0.5681 0.6854 0.6804 0.6003 0.6093 0.4483 0.7620 0.7285 0.7805 0.5656 0.6835 0.6112 het 1004.92 56 1 62579823 . G A 1004.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.927;DP=56;Dels=0.00;FS=4.581;HRun=1;HaplotypeScore=2.3391;MQ=58.42;MQ0=0;MQRankSum=1.897;QD=17.94;ReadPosRankSum=1.273;VQSLOD=4.0952;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,35:56:99:1035,0,590 1 62579907 62579907 C T exonic PATJ synonymous SNV PATJ:NM_001350145:exon35:c.C4644T:p.I1548I,PATJ:NM_176877:exon35:c.C4644T:p.I1548I 0.3 0.28 0.23 0.71 0.07 0.18 0.1742 0.2631 0.2818 0.7347 0.0605 0.0824 0.1228 0.1677 0.15 0.26 0.089 0.34 0.11 rs7418709 COSM5427913;COSM5427914 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1762 0.2671 0.2733 0.1185 0.7414 0.0616 0.0812 0.1448 0.1617 0.1701 0.2536 0.2590 0.1225 0.7444 0.0547 0.0871 0.0980 het 284.48 34 1 62579907 . C T 284.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.721;DP=34;Dels=0.00;FS=3.580;HRun=1;HaplotypeScore=0.0000;MQ=57.86;MQ0=0;MQRankSum=-0.631;QD=8.37;ReadPosRankSum=-1.351;VQSLOD=4.0531;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,12:34:99:314,0,548 1 62675619 62675619 C T exonic L1TD1 synonymous SNV L1TD1:NM_019079:exon4:c.C1173T:p.A391A,L1TD1:NM_001164835:exon5:c.C1173T:p.A391A 0.3 0.28 0.35 0.11 0.49 0.29 0.4167 0.3294 0.2922 0.1077 0.4415 0.5137 0.4381 0.3173 0.45 0.34 0.51 0.33 0.47 rs4625314 COSM146532 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4153 0.3283 0.3130 0.5319 0.1090 0.4430 0.5145 0.4493 0.3190 0.4212 0.3397 0.3604 0.5762 0.1141 0.4421 0.4956 0.4398 het 1316.48 127 1 62675619 . C T 1316.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.836;DP=127;DS;Dels=0.00;FS=15.087;HRun=1;HaplotypeScore=3.3019;MQ=58.00;MQ0=1;MQRankSum=-1.302;QD=10.37;ReadPosRankSum=0.938;VQSLOD=2.2914;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,50:127:99:1346,0,2220 1 62675892 62675892 A G exonic L1TD1 synonymous SNV L1TD1:NM_019079:exon4:c.A1446G:p.E482E,L1TD1:NM_001164835:exon5:c.A1446G:p.E482E 0.51 0.52 0.63 0.25 0.65 0.53 0.6062 0.5351 0.6270 0.2400 0.6563 0.6712 0.6344 0.5422 0.62 0.54 0.66 0.6 0.62 rs2481694 COSM3751345 1(NS);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6058 0.5335 0.6321 0.6168 0.2391 0.6586 0.6705 0.6231 0.5396 0.6026 0.5421 0.6268 0.6523 0.2463 0.6574 0.6592 0.6255 het 1189.40 102 1 62675892 . A G 1189.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.694;DP=102;Dels=0.00;FS=0.911;HRun=1;HaplotypeScore=1.9164;MQ=59.59;MQ0=0;MQRankSum=0.303;QD=11.66;ReadPosRankSum=-0.492;VQSLOD=6.5113;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,45:102:99:1219,0,1556 1 62713224 62713224 C G exonic KANK4 nonsynonymous SNV KANK4:NM_001320269:exon8:c.G919C:p.V307L,KANK4:NM_181712:exon9:c.G2803C:p.V935L 0.99 1. 0.99 1. 0.97 0.97 0.9744 0.9931 0.9882 0.9998 0.9856 0.9649 0.9812 0.9732 0.97 0.99 0.96 1. 0.99 rs2941679 . . . . . . . . . . . . . 0.185 0.215 T 0.0 0.026 B 0.001 0.040 B 0.163 0.176 N 1.000 0.207 P -0.55 0.024 N 0.08 0.616 T 0.23 0.050 N 0.073 0.109 -0.996 0.312 T 0.000 0.000 T . . . 1.806 0.278 15.02 0.981 0.381 0.424 0.266 N c -0.763 -0.542 0.070 0.155 0.581 0.326 0 2.62 0.302 0.787 0.263 0.133 0.217 0.953 0.330 0.998 0.697 9.007 0.351 Ankyrin repeat-containing domain . . 0.9743 0.9936 0.9870 0.9598 0.9993 0.9850 0.9637 0.9742 0.9722 0.9755 0.9938 0.9821 0.9702 0.9994 0.9842 0.9607 0.9623 hom 6082.27 178 1 62713224 . C G 6082.27 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3102;MQ=59.59;MQ0=0;QD=34.17;VQSLOD=8.6670;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:6082,478,0 1 62728784 62728784 A G exonic KANK4 nonsynonymous SNV KANK4:NM_001320269:exon6:c.T635C:p.V212A,KANK4:NM_181712:exon7:c.T2519C:p.V840A 0.72 0.55 0.79 0.84 0.74 0.74 0.7444 0.5590 0.8652 0.8406 0.8490 0.7393 0.7336 0.7058 0.67 0.56 0.73 0.74 0.7 rs2666472 COSM4144131 1(thyroid) . . . . . . . . . . . 0.369 0.187 T 0.068 0.222 B 0.036 0.253 B 0.475 0.122 N 0.663 0.810 P 1.565 0.397 L -0.44 0.698 T -2.29 0.556 N 0.19 0.232 -0.962 0.389 T 0.000 0.000 T . . . 0.670 0.158 8.629 0.914 0.200 0.777 0.379 D c -0.947 -0.882 0.000 0.052 0.554 0.283 0 -0.649 0.108 2.839 0.477 -1.159 0.017 1.000 0.715 0.483 0.268 12.662 0.560 Ankyrin repeat-containing domain ENSG00000240563.1|ENSG00000240563.1 Cells_Transformed_fibroblasts|Thyroid 0.7543 0.5489 0.8598 0.7077 0.8450 0.8471 0.7364 0.7544 0.7024 0.7130 0.5516 0.8325 0.7067 0.8273 0.8522 0.7509 0.7837 hom 1005.15 34 1 62728784 . A G 1005.15 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;QD=29.56;VQSLOD=8.9476;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:90.24:1038,90,0 1 62728838 62728838 T C exonic KANK4 nonsynonymous SNV KANK4:NM_001320269:exon6:c.A581G:p.H194R,KANK4:NM_181712:exon7:c.A2465G:p.H822R 0.72 0.55 0.79 0.84 0.74 0.74 0.7426 0.5557 0.8631 0.8400 0.8483 0.7377 0.7322 0.7031 0.67 0.56 0.73 0.74 0.71 rs2258470 . . . . . . . . . . . . . 0.464 0.179 T 0.0 0.026 B 0.0 0.013 B 0.278 0.150 N 1.000 0.588 P -0.355 0.031 N -0.08 0.639 T 0.67 0.023 N 0.004 0.000 -0.992 0.322 T 0.000 0.000 T . . . 0.245 0.117 5.144 0.928 0.218 0.137 0.178 N c -0.807 -0.656 0.001 0.080 0.487 0.133 0 3.02 0.338 2.747 0.469 0.066 0.173 1.000 0.715 0.747 0.321 10.110 0.415 Ankyrin repeat-containing domain ENSG00000240563.1|ENSG00000240563.1 Cells_Transformed_fibroblasts|Thyroid 0.7543 0.5497 0.8599 0.7071 0.8448 0.8478 0.7364 0.7543 0.7025 0.7124 0.5506 0.8325 0.7 0.8265 0.8522 0.7504 0.7832 hom 1566.18 49 1 62728838 . T C 1566.18 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;QD=31.96;VQSLOD=9.3997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1599,132,0 1 62728861 62728861 T C exonic KANK4 synonymous SNV KANK4:NM_001320269:exon6:c.A558G:p.K186K,KANK4:NM_181712:exon7:c.A2442G:p.K814K 0.72 0.55 0.79 0.84 0.74 0.74 0.7426 0.5554 0.8632 0.8404 0.8482 0.7380 0.7334 0.7021 0.67 0.56 0.73 0.75 0.7 rs2260581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7546 0.5505 0.8600 0.7074 0.8450 0.8478 0.7369 0.7544 0.7025 0.7132 0.5516 0.8321 0.7114 0.8275 0.8522 0.7511 0.7832 hom 1710.33 51 1 62728861 . T C 1710.33 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7825;MQ=58.26;MQ0=0;QD=33.54;VQSLOD=8.6661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1743,138,0 1 62728918 62728918 G A exonic KANK4 synonymous SNV KANK4:NM_001320269:exon6:c.C501T:p.P167P,KANK4:NM_181712:exon7:c.C2385T:p.P795P 0.72 0.55 0.79 0.84 0.74 0.74 0.7437 0.5579 0.8642 0.8428 0.8492 0.7389 0.7378 0.7018 0.67 0.56 0.73 0.75 0.7 rs2262110 COSM5427411 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7547 0.5505 0.8598 0.7073 0.8457 0.8479 0.7372 0.7532 0.7024 0.7135 0.5519 0.8325 0.7067 0.8282 0.8522 0.7515 0.7827 hom 1727.38 52 1 62728918 . G A 1727.38 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.65;MQ0=0;QD=33.22;VQSLOD=9.4939;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1760,141,0 1 62732421 62732421 T C exonic KANK4 nonsynonymous SNV KANK4:NM_001320269:exon5:c.A418G:p.T140A,KANK4:NM_181712:exon6:c.A2302G:p.T768A 0.31 0.21 0.4 0.59 0.27 0.12 0.2850 0.2204 0.5009 0.5904 0.3556 0.2458 0.2892 0.1437 0.24 0.22 0.24 0.27 0.17 rs11207949 . . . . . . . . . . . . . 0.542 0.067 T 0.001 0.126 B 0.01 0.145 B 0.032 0.251 N 1 0.090 P 1.77 0.460 L 0.9 0.456 T -0.98 0.279 N 0.087 0.092 -0.935 0.433 T 0.000 0.000 T . . . 0.766 0.167 9.253 0.744 0.103 0.758 0.368 D c -0.485 -0.439 0.005 0.109 0.554 0.283 0 3.57 0.399 2.369 0.436 0.913 0.425 0.949 0.328 0.413 0.256 12.177 0.533 . . . 0.2960 0.2163 0.4804 0.2111 0.5865 0.3606 0.2444 0.2741 0.1435 0.2772 0.2013 0.4281 0.2086 0.5407 0.3520 0.2667 0.3035 het 1125.03 112 1 62732421 . T C 1125.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.034;DP=112;Dels=0.00;FS=3.527;HRun=0;HaplotypeScore=1.4725;MQ=59.29;MQ0=0;MQRankSum=-0.026;QD=10.04;ReadPosRankSum=-0.337;VQSLOD=6.4721;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,50:112:99:1155,0,1551 1 62738904 62738904 T C exonic KANK4 synonymous SNV KANK4:NM_181712:exon3:c.A1872G:p.P624P 0.8 0.88 0.79 0.84 0.7 0.76 0.7470 0.8585 0.8482 0.8452 0.8083 0.6919 0.7277 0.7515 0.73 0.85 0.67 0.8 0.34 rs7516290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7515 0.8575 0.8322 0.6363 0.8472 0.8121 0.6895 0.7303 0.7521 0.7708 0.8603 0.8079 0.6309 0.8346 0.8095 0.7039 0.7660 het 640.29 46 1 62738904 . T C 640.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.434;DP=46;Dels=0.00;FS=3.097;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-0.062;QD=13.92;ReadPosRankSum=1.686;VQSLOD=5.1647;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,26:46:99:670,0,516 1 62740446 62740446 T C exonic KANK4 synonymous SNV KANK4:NM_181712:exon3:c.A330G:p.P110P 0.8 0.88 0.79 0.85 0.7 0.76 0.7448 0.8589 0.8464 0.8634 0.8071 0.6890 0.7280 0.7427 0.74 0.85 0.67 0.81 0.51 rs2666506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7477 0.8594 0.8400 0.6339 0.8650 0.8117 0.6864 0.7253 0.7417 0.7700 0.8595 0.8082 0.6233 0.8526 0.8091 0.7007 0.7614 het 1539.81 126 1 62740446 . T C 1539.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.545;DP=126;Dels=0.00;FS=9.792;HRun=0;HaplotypeScore=2.5130;MQ=59.29;MQ0=0;MQRankSum=-1.217;QD=12.22;ReadPosRankSum=0.106;VQSLOD=3.6590;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,62:126:99:1570,0,1652 1 62740449 62740449 T C exonic KANK4 synonymous SNV KANK4:NM_181712:exon3:c.A327G:p.S109S 0.78 0.8 0.78 0.85 0.7 0.76 0.7374 0.7772 0.8431 0.8635 0.8068 0.6888 0.7236 0.7424 0.71 0.77 0.67 0.79 0.47 rs2666507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7418 0.7771 0.8364 0.6339 0.8650 0.8113 0.6862 0.7221 0.7415 0.7454 0.7753 0.8065 0.6233 0.8515 0.8075 0.7002 0.7541 het 1507.80 130 1 62740449 . T C 1507.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.187;DP=130;Dels=0.00;FS=13.165;HRun=0;HaplotypeScore=2.4328;MQ=59.31;MQ0=0;MQRankSum=-0.217;QD=11.60;ReadPosRankSum=0.021;VQSLOD=3.6480;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,64:130:99:1538,0,1716 1 62959955 62959955 T A exonic DOCK7 synonymous SNV DOCK7:NM_001272000:exon39:c.A5088T:p.V1696V,DOCK7:NM_001272001:exon39:c.A5088T:p.V1696V,DOCK7:NM_033407:exon39:c.A5115T:p.V1705V,DOCK7:NM_001271999:exon40:c.A5181T:p.V1727V,DOCK7:NM_001330614:exon40:c.A5181T:p.V1727V . . . . . . 0.0003 0 0 0 0.0002 0.0005 0 0 0.0004 . 0.0006 . . rs144604663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0 0 0 0 4.503e-05 0.0004 0.0006 0 0.0003 0.0001 0 0 0 0 0.0005 0 het 605.40 49 1 62959955 . T A 605.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.090;DP=49;Dels=0.00;FS=4.395;HRun=1;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=-0.250;QD=12.36;ReadPosRankSum=0.590;VQSLOD=3.9245;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,24:49:99:635,0,663 1 62960101 62960101 A G exonic DOCK7 synonymous SNV DOCK7:NM_001272000:exon39:c.T4942C:p.L1648L,DOCK7:NM_001272001:exon39:c.T4942C:p.L1648L,DOCK7:NM_033407:exon39:c.T4969C:p.L1657L,DOCK7:NM_001271999:exon40:c.T5035C:p.L1679L,DOCK7:NM_001330614:exon40:c.T5035C:p.L1679L 0.35 0.42 0.36 0.18 0.32 0.45 0.3469 0.4038 0.4003 0.1939 0.2780 0.3278 0.3124 0.4604 0.35 0.39 0.33 0.3 0.26 rs10889335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3442 0.4006 0.3930 0.2334 0.1952 0.2831 0.3366 0.3142 0.4592 0.3426 0.3993 0.3842 0.2781 0.2001 0.2807 0.3393 0.3279 hom 3843.46 124 1 62960101 . A G 3843.46 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1893;MQ=59.02;MQ0=0;QD=31.00;VQSLOD=9.0579;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3843,292,0 1 63881552 63881552 C T exonic ALG6 nonsynonymous SNV ALG6:NM_013339:exon11:c.C911T:p.S304F 0.83 0.9 0.76 0.86 0.69 0.9 0.7514 0.8629 0.8338 0.8596 0.6712 0.6875 0.7472 0.8565 0.74 0.86 0.68 0.87 0.56 rs4630153 COSM5653791;COSM5653790 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Congenital_disorder_of_glycosylation RCV000081560.9|RCV000323730.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282577:ORPHA137:238049009 . . . . . . 0.213 0.194 T 0.0 0.026 B 0.001 0.040 B 0.100 0.199 N 1 0.090 P . . . -1.61 0.823 D -1.52 0.370 N 0.079 0.071 -1.019 0.241 T 0.185 0.534 T . . . 1.629 0.257 14.01 0.390 0.026 0.005 0.024 N c -0.537 -0.415 0.002 0.090 0.706 0.609 0 3.91 0.442 0.653 0.244 -0.251 0.090 0.873 0.306 0.956 0.434 6.859 0.231 . ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000088035.11|ENSG00000142856.12|ENSG00000088035.11|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina 0.7527 0.8701 0.8238 0.7772 0.8597 0.6749 0.6833 0.7483 0.8566 0.7439 0.8674 0.7780 0.7715 0.8776 0.6722 0.6733 0.7194 het 526.10 51 1 63881552 . C T 526.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8634;MQ=60.00;MQ0=0;MQRankSum=1.598;QD=10.32;ReadPosRankSum=1.196;VQSLOD=4.7885;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,21:51:99:556,0,786 1 63997633 63997633 A T exonic EFCAB7 synonymous SNV EFCAB7:NM_032437:exon3:c.A330T:p.S110S 0.2 0.27 0.17 0.19 0.14 0.17 0.1726 0.2343 0.1877 0.1847 0.1329 0.1611 0.1908 0.1788 0.18 0.23 0.15 0.17 0.11 rs9804078 COSM3747044 3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1718 0.2340 0.1824 0.2608 0.1852 0.1360 0.1554 0.1980 0.1745 0.1703 0.2279 0.1926 0.2450 0.1927 0.1284 0.1416 0.1663 het 380.21 38 1 63997633 . A T 380.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.143;DP=38;Dels=0.00;FS=1.271;HRun=3;HaplotypeScore=2.9874;MQ=58.73;MQ0=0;MQRankSum=-0.088;QD=10.01;ReadPosRankSum=-0.881;VQSLOD=5.3628;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,17:38:99:410,0,541 1 63999826 63999826 C T exonic EFCAB7 nonsynonymous SNV EFCAB7:NM_032437:exon6:c.C743T:p.T248I 0.14 0.086 0.16 0.19 0.14 0.17 0.1585 0.0877 0.1821 0.1839 0.1325 0.1598 0.1828 0.1770 0.13 0.089 0.15 0.11 0.13 rs6693255 COSM3747045 4(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.006 0.614 D 0.294 0.306 B 0.07 0.264 B 0.052 0.229 N 0.948 0.265 P 2.47 0.719 M 0.32 0.585 T -1.91 0.444 N 0.065 0.098 -1.083 0.067 T 0.061 0.256 T . . . 1.471 0.239 13.16 0.902 0.189 0.242 0.221 N c -0.534 -0.505 0.049 0.148 0.563 0.310 0 1.49 0.219 0.461 0.215 0.017 0.142 0.056 0.214 0.423 0.258 4.209 0.099 . ENSG00000079739.11|ENSG00000203965.8|ENSG00000079739.11 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Esophagus_Muscularis 0.1611 0.0842 0.1752 0.2600 0.1849 0.1359 0.1550 0.1915 0.1742 0.1285 0.0823 0.1854 0.2417 0.1921 0.1286 0.1408 0.1633 het 1235.83 99 1 63999826 . C T 1235.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.665;DP=99;Dels=0.00;FS=2.771;HRun=0;HaplotypeScore=0.9469;MQ=59.53;MQ0=0;MQRankSum=0.850;QD=12.48;ReadPosRankSum=-0.081;VQSLOD=6.8230;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,48:99:99:1266,0,1265 1 63999868 63999868 T C exonic EFCAB7 nonsynonymous SNV EFCAB7:NM_032437:exon6:c.T785C:p.M262T 0.29 0.58 0.2 0.19 0.15 0.19 0.2014 0.5001 0.2026 0.1923 0.1432 0.1624 0.2109 0.1981 0.27 0.48 0.16 0.33 0.16 rs6657480 COSM3747046 4(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.845 0.028 T 0.0 0.026 B 0.0 0.013 B 0.230 0.159 N 1 0.090 P -2.34 0.001 N 0.51 0.555 T 0.55 0.027 N 0.018 0.003 -0.980 0.351 T 0.012 0.046 T . . . -2.000 0.008 0.001 0.588 0.059 0.024 0.067 N c -1.326 -1.138 0.230 0.185 0.615 0.372 0 2.32 0.278 -0.316 0.080 -0.441 0.057 0.001 0.137 0.471 0.266 4.47 0.110 . ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12 Brain_Cerebellar_Hemisphere|Lung|Thyroid 0.1954 0.5013 0.1980 0.2599 0.1926 0.1459 0.1564 0.2132 0.1949 0.2461 0.4872 0.2172 0.2450 0.1976 0.1366 0.1424 0.1852 het 633.98 60 1 63999868 . T C 633.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.082;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6640;MQ=60.00;MQ0=0;MQRankSum=-1.341;QD=10.57;ReadPosRankSum=-0.141;VQSLOD=5.2518;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,28:60:99:664,0,789 1 64021096 64021096 G A exonic EFCAB7 nonsynonymous SNV EFCAB7:NM_032437:exon9:c.G1124A:p.R375K 0.14 0.067 0.16 0.19 0.14 0.17 0.1575 0.0769 0.1813 0.1839 0.1323 0.1598 0.1828 0.1774 0.13 0.079 0.15 0.11 0.14 rs2273367 COSM3747048 5(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.25 0.171 T 0.001 0.067 B 0.002 0.063 B 0.000 0.537 N 0.439 0.322 P 1.42 0.358 L 0.91 0.449 T -0.94 0.251 N 0.04 0.020 -1.089 0.058 T 0.050 0.211 T . . . 2.197 0.325 17.49 0.973 0.327 0.916 0.537 D c -0.076 0.078 0.792 0.240 0.638 0.428 0 4.04 0.461 4.788 0.619 1.045 0.669 1.000 0.715 1.000 0.888 10.965 0.464 . ENSG00000079739.11|ENSG00000203965.8|ENSG00000079739.11 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Esophagus_Muscularis 0.1606 0.0736 0.1749 0.2603 0.1851 0.1358 0.1552 0.1913 0.1748 0.1259 0.0723 0.1847 0.2417 0.1926 0.1282 0.1414 0.1598 het 1010.54 109 1 64021096 . G A 1010.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.116;DP=109;Dels=0.00;FS=1.658;HRun=1;HaplotypeScore=4.4468;MQ=58.58;MQ0=0;MQRankSum=-0.343;QD=9.27;ReadPosRankSum=0.682;VQSLOD=5.3230;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,40:109:99:1041,0,1812 1 64095111 64095111 A G exonic PGM1 nonsynonymous SNV PGM1:NM_001172818:exon2:c.A316G:p.I106V,PGM1:NM_002633:exon2:c.A262G:p.I88V 0.13 0.25 0.11 0.011 0.14 0.085 0.1304 0.2477 0.0584 0.0068 0.1355 0.1488 0.1222 0.0959 0.17 0.24 0.14 0.14 0.14 rs855314 COSM3735977;COSM3735978 1(skin) Likely benign|Likely benign|Benign Congenital_disorder_of_glycosylation_type_1t|Congenital_disorder_of_glycosylation|not_specified RCV000350881.1|RCV000389349.1|RCV000425439.1 MedGen:OMIM:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen C2752015:614921:ORPHA319646|C0282577:ORPHA137:238049009|CN169374 . . . . . . 1.0 0.010 T 0.022 0.245 B 0.037 0.252 B 0.000 0.629 D 0.182 0.810 P -0.745 0.017 N 0.02 0.623 T -0.03 0.075 N 0.156 0.306 -1.049 0.147 T 0.042 0.180 T . . . 3.281 0.453 22.8 0.968 0.305 0.988 0.873 D c -0.233 0.044 1.000 0.747 0.732 0.924 0 5.48 0.806 9.197 0.941 1.199 0.960 1.000 0.715 0.999 0.750 15.892 0.790 Alpha-D-phosphohexomutase\x2c alpha/beta/alpha I/II/III|Alpha-D-phosphohexomutase\x2c alpha/beta/alpha domain I . . 0.1255 0.2474 0.0689 0.1324 0.0066 0.1331 0.1508 0.1300 0.0952 0.1626 0.2458 0.0837 0.1216 0.0062 0.1246 0.1478 0.1224 het 2288.46 186 1 64095111 . A G 2288.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.498;DP=186;Dels=0.00;FS=2.558;HRun=0;HaplotypeScore=5.2136;MQ=58.75;MQ0=0;MQRankSum=0.805;QD=12.30;ReadPosRankSum=0.525;VQSLOD=5.4433;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,90:186:99:2318,0,2344 1 64515379 64515379 C T exonic ROR1 synonymous SNV ROR1:NM_001083592:exon3:c.C180T:p.L60L,ROR1:NM_005012:exon3:c.C180T:p.L60L 0.78 0.55 0.86 0.94 0.83 0.8 0.8384 0.6292 0.8880 0.9585 0.8696 0.8524 0.8392 0.8034 0.78 0.63 0.86 0.78 0.83 rs1772626 COSM3747050 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8459 0.6220 0.8871 0.8767 0.9583 0.8767 0.8503 0.8321 0.8038 0.8042 0.6411 0.8902 0.8642 0.9653 0.8797 0.8554 0.8411 hom 5815.04 185 1 64515379 . C T 5815.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.927;DP=185;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6778;MQ=59.08;MQ0=0;MQRankSum=-0.627;QD=31.43;ReadPosRankSum=-0.927;VQSLOD=7.6158;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,184:185:99:5776,416,0 1 64608329 64608329 G T exonic ROR1 synonymous SNV ROR1:NM_001083592:exon7:c.G1170T:p.A390A,ROR1:NM_005012:exon7:c.G1170T:p.A390A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs2762833 COSM4594947 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1733.18 54 1 64608329 . G T 1733.18 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.10;VQSLOD=12.7927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1766,138,0 1 64624842 64624842 A G exonic ROR1 synonymous SNV ROR1:NM_005012:exon8:c.A1353G:p.V451V 0.35 0.22 0.36 0.41 0.4 0.39 0.3592 0.2330 0.3831 0.4068 0.3593 0.3613 0.3458 0.3892 0.32 0.23 0.37 0.34 0.3 rs6668545 COSM3747051 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3615 0.2291 0.3838 0.3634 0.4009 0.3592 0.3595 0.3643 0.3887 0.3299 0.2312 0.3589 0.3742 0.4067 0.3589 0.3676 0.3617 hom 6376.52 200 1 64624842 . A G 6376.52 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=31.88;VQSLOD=9.5360;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6376,485,0 1 64643277 64643277 C T exonic ROR1 nonsynonymous SNV ROR1:NM_005012:exon9:c.C1553T:p.T518M 0.24 0.042 0.3 0.31 0.35 0.29 0.3043 0.0770 0.3485 0.3000 0.3796 0.3329 0.2841 0.2743 0.25 0.079 0.33 0.24 0.25 rs7527017 COSM3747052 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 0.043 0.413 D 0.788 0.426 P 0.532 0.468 P 0.019 0.273 N 0.735 0.588 P 0.78 0.195 N -1.68 0.829 D -1.05 0.275 N 0.134 0.155 -0.285 0.754 T 0.323 0.692 T . . . 4.341 0.581 24.0 0.998 0.846 0.970 0.720 D c 0.193 0.285 0.859 0.252 0.707 0.730 0 5.04 0.672 1.815 0.384 0.935 0.490 0.941 0.324 0.997 0.653 17.008 0.862 Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain;Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase\x2c catalytic domain ENSG00000177414.9|ENSG00000177414.9|ENSG00000177414.9|ENSG00000177414.9|ENSG00000177414.9 Heart_Left_Ventricle|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3103 0.0739 0.3471 0.2343 0.2954 0.3857 0.3353 0.3115 0.2747 0.2785 0.0751 0.3258 0.2351 0.3099 0.3961 0.3605 0.3360 hom 7826.76 242 1 64643277 . C T 7826.76 Mask AC=2;AF=1.00;AN=2;DP=242;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8307;MQ=59.67;MQ0=0;QD=32.34;VQSLOD=9.3908;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:7826,623,0 1 65099841 65099841 A G exonic CACHD1 nonsynonymous SNV CACHD1:NM_001293274:exon6:c.A16G:p.S6G,CACHD1:NM_020925:exon7:c.A751G:p.S251G . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.428 0.096 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.530 D 0.695 0.181 N 1.94 0.227 T -1.31 0.328 N 0.203 0.249 -1.030 0.203 T 0.012 0.047 T 0.008 0.214 T 0.343 0.127 6.106 0.960 0.279 0.856 0.445 D c -0.660 -0.533 0.454 0.206 0.706 0.609 0 3.58 0.400 3.081 0.496 0.225 0.256 0.994 0.380 0.921 0.396 5.642 0.167 von Willebrand factor\x2c type A . . . . . . . . . . . . . . . . . . . het 1321.18 101 1 65099841 . A G 1321.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.924;DP=101;Dels=0.00;FS=1.597;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-1.433;QD=13.08;ReadPosRankSum=-0.603;VQSLOD=3.6255;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,47:101:99:1351,0,1492 1 65113568 65113568 T C exonic CACHD1 nonsynonymous SNV CACHD1:NM_001293274:exon8:c.T353C:p.M118T,CACHD1:NM_020925:exon9:c.T1088C:p.M363T 1. 0.99 1. 1. 1. 1. 0.9990 0.9900 0.9997 1 1 0.9998 1 0.9999 1. 0.99 1. 1. 1. rs6588100 . . . . . . . . . . . . . 0.998 0.019 T 0.0 0.026 B 0.0 0.013 B 0.003 0.355 N 1 0.090 P -0.345 0.033 N 2.06 0.205 T 0.61 0.025 N 0.033 0.028 -0.925 0.448 T 0.008 0.029 T . . . -0.554 0.052 0.162 0.338 0.020 0.021 0.062 N c -1.096 -1.019 0.000 0.065 0.672 0.522 0 2.3 0.276 0.804 0.266 0.016 0.142 0.002 0.151 0.655 0.299 8.775 0.337 von Willebrand factor\x2c type A . . 0.9992 0.9894 0.9999 0.9976 1 1 0.9999 0.9993 0.9999 0.9971 0.9899 1 1 1 1 1 0.9980 hom 2867.71 94 1 65113568 . T C 2867.71 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9772;MQ=59.75;MQ0=0;QD=30.51;VQSLOD=9.3073;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2901,244,0 1 65147002 65147002 C T exonic CACHD1 synonymous SNV CACHD1:NM_001293274:exon24:c.C2580T:p.H860H,CACHD1:NM_020925:exon25:c.C3315T:p.H1105H 0.13 0.18 0.088 0.19 0.046 0.099 0.0696 0.1654 0.0639 0.2058 0.0172 0.0414 0.0760 0.0763 0.086 0.16 0.046 0.17 0.0082 rs3828064 COSM3997629 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0683 0.1680 0.0690 0.0548 0.2117 0.0193 0.0417 0.0676 0.0744 0.0815 0.1659 0.0719 0.0695 0.2163 0.0184 0.0356 0.0459 het 2370.15 232 1 65147002 . C T 2370.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.379;DP=232;DS;Dels=0.00;FS=1.637;HRun=0;HaplotypeScore=6.5230;MQ=59.29;MQ0=1;MQRankSum=-1.044;QD=10.22;ReadPosRankSum=-0.107;VQSLOD=4.3979;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:131,101:232:99:2400,0,3187 1 65310489 65310489 T C exonic JAK1 synonymous SNV JAK1:NM_001321852:exon16:c.A2199G:p.P733P,JAK1:NM_001321856:exon16:c.A2199G:p.P733P,JAK1:NM_001321857:exon16:c.A2196G:p.P732P,JAK1:NM_002227:exon16:c.A2199G:p.P733P,JAK1:NM_001320923:exon17:c.A2199G:p.P733P,JAK1:NM_001321854:exon17:c.A2199G:p.P733P,JAK1:NM_001321855:exon17:c.A2199G:p.P733P,JAK1:NM_001321853:exon18:c.A2199G:p.P733P 0.37 0.66 0.32 0.3 0.25 0.22 0.2935 0.6133 0.3652 0.3136 0.2794 0.2467 0.2946 0.2375 0.35 0.58 0.23 0.41 0.33 rs2230588 COSM3751351 9(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2943 0.6201 0.3515 0.3558 0.3170 0.2859 0.2414 0.2985 0.2351 0.3717 0.6204 0.3349 0.3675 0.3046 0.2774 0.2630 0.2969 het 965.03 98 1 65310489 . T C 965.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.070;DP=98;Dels=0.00;FS=2.723;HRun=0;HaplotypeScore=4.5134;MQ=59.08;MQ0=0;MQRankSum=0.132;QD=9.85;ReadPosRankSum=-1.854;VQSLOD=4.6750;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,37:98:99:995,0,1426 1 65311214 65311214 G C exonic JAK1 synonymous SNV JAK1:NM_001321852:exon15:c.C2097G:p.A699A,JAK1:NM_001321856:exon15:c.C2097G:p.A699A,JAK1:NM_001321857:exon15:c.C2094G:p.A698A,JAK1:NM_002227:exon15:c.C2097G:p.A699A,JAK1:NM_001320923:exon16:c.C2097G:p.A699A,JAK1:NM_001321854:exon16:c.C2097G:p.A699A,JAK1:NM_001321855:exon16:c.C2097G:p.A699A,JAK1:NM_001321853:exon17:c.C2097G:p.A699A 0.039 0.0015 0.13 0.0069 0.041 0.054 0.0615 0.0093 0.1710 0.0094 0.0448 0.0584 0.0489 0.0626 0.045 0.011 0.061 0.011 0.066 rs3737139 COSM5019856 3(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0668 0.0096 0.1688 0.0344 0.0114 0.0421 0.0615 0.0593 0.0641 0.0469 0.0114 0.1348 0.0298 0.0136 0.0481 0.0657 0.0571 het 2329 205 1 65311214 . G C 2329 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.277;DP=205;DS;Dels=0.00;FS=0.544;HRun=0;HaplotypeScore=7.3224;MQ=59.46;MQ0=0;MQRankSum=1.693;QD=11.36;ReadPosRankSum=-0.291;VQSLOD=3.7078;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,93:205:99:2359,0,3104 1 65321250 65321250 G A exonic JAK1 synonymous SNV JAK1:NM_001321852:exon11:c.C1590T:p.I530I,JAK1:NM_001321856:exon11:c.C1590T:p.I530I,JAK1:NM_001321857:exon11:c.C1587T:p.I529I,JAK1:NM_002227:exon11:c.C1590T:p.I530I,JAK1:NM_001320923:exon12:c.C1590T:p.I530I,JAK1:NM_001321854:exon12:c.C1590T:p.I530I,JAK1:NM_001321855:exon12:c.C1590T:p.I530I,JAK1:NM_001321853:exon13:c.C1590T:p.I530I 0.039 0.0015 0.13 0.0069 0.041 0.054 0.0616 0.0092 0.1714 0.0094 0.0459 0.0584 0.0494 0.0632 0.044 0.012 0.06 0.011 0.057 rs2230586 COSM5019852 3(soft_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0667 0.0095 0.1687 0.0345 0.0114 0.0420 0.0612 0.0590 0.0642 0.0471 0.0113 0.1360 0.0298 0.0136 0.0481 0.0660 0.0562 het 669.36 59 1 65321250 . G A 669.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.882;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3548;MQ=59.22;MQ0=0;MQRankSum=0.775;QD=11.35;ReadPosRankSum=0.253;VQSLOD=6.4495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,25:59:99:699,0,893 1 65335095 65335095 T C exonic JAK1 synonymous SNV JAK1:NM_001321852:exon6:c.A546G:p.G182G,JAK1:NM_001321856:exon6:c.A546G:p.G182G,JAK1:NM_001321857:exon6:c.A546G:p.G182G,JAK1:NM_002227:exon6:c.A546G:p.G182G,JAK1:NM_001320923:exon7:c.A546G:p.G182G,JAK1:NM_001321854:exon7:c.A546G:p.G182G,JAK1:NM_001321855:exon7:c.A546G:p.G182G,JAK1:NM_001321853:exon8:c.A546G:p.G182G 0.035 0.0015 0.13 0.0069 0.041 0.037 0.0597 0.0092 0.1709 0.0094 0.0448 0.0583 0.0478 0.0507 0.045 0.012 0.06 0.011 0.074 rs11585932 COSM5019905 3(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0652 0.0095 0.1690 0.0344 0.0114 0.0420 0.0613 0.0584 0.0516 0.0469 0.0112 0.1343 0.0298 0.0136 0.0479 0.0660 0.0540 het 1757.04 156 1 65335095 . T C 1757.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.474;DP=156;Dels=0.00;FS=4.954;HRun=2;HaplotypeScore=3.3382;MQ=59.17;MQ0=0;MQRankSum=-0.544;QD=11.26;ReadPosRankSum=0.791;VQSLOD=5.3492;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,67:156:99:1787,0,2291 1 65858145 65858145 G A exonic DNAJC6 synonymous SNV DNAJC6:NM_001256864:exon12:c.G1500A:p.E500E,DNAJC6:NM_014787:exon12:c.G1329A:p.E443E,DNAJC6:NM_001256865:exon13:c.G1290A:p.E430E 0.35 0.28 0.43 0.19 0.53 0.39 0.4590 0.3048 0.4580 0.1813 0.4194 0.5292 0.4758 0.4331 0.46 0.32 0.53 0.34 0.51 rs4325172 COSM3751355;COSM3751356 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4575 0.2996 0.4662 0.5394 0.1770 0.4367 0.5317 0.4779 0.4040 0.4301 0.3048 0.4604 0.5530 0.1760 0.4393 0.5197 0.4959 het 1006.13 86 1 65858145 . G A 1006.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.347;DP=86;Dels=0.00;FS=1.827;HRun=1;HaplotypeScore=2.9293;MQ=59.08;MQ0=0;MQRankSum=0.052;QD=11.70;ReadPosRankSum=1.865;VQSLOD=5.3015;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,39:86:99:1036,0,1234 1 65860687 65860687 A C exonic DNAJC6 synonymous SNV DNAJC6:NM_001256864:exon13:c.A2010C:p.P670P,DNAJC6:NM_014787:exon13:c.A1839C:p.P613P,DNAJC6:NM_001256865:exon14:c.A1800C:p.P600P 0.76 0.98 0.63 0.79 0.59 0.68 0.6468 0.9275 0.6401 0.7779 0.5711 0.5854 0.6432 0.6842 0.7 0.91 0.58 0.75 0.59 rs4582839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6417 0.9344 0.6394 0.6601 0.7720 0.5838 0.5806 0.6251 0.6891 0.6869 0.9266 0.6229 0.6867 0.7386 0.5885 0.5716 0.6316 het 2129.05 190 1 65860687 . A C 2129.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.886;DP=190;Dels=0.00;FS=6.138;HRun=2;HaplotypeScore=6.6598;MQ=58.45;MQ0=0;MQRankSum=0.279;QD=11.21;ReadPosRankSum=-0.308;VQSLOD=3.8943;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,86:190:99:2159,0,2717 1 66831370 66831370 G A exonic PDE4B synonymous SNV PDE4B:NM_001037339:exon6:c.G789A:p.E263E,PDE4B:NM_001297442:exon6:c.G606A:p.E202E,PDE4B:NM_001037340:exon11:c.G1260A:p.E420E,PDE4B:NM_001297440:exon12:c.G1029A:p.E343E,PDE4B:NM_001297441:exon12:c.G1080A:p.E360E,PDE4B:NM_001037341:exon13:c.G1305A:p.E435E,PDE4B:NM_002600:exon13:c.G1305A:p.E435E 0.52 0.79 0.45 0.15 0.49 0.59 0.4868 0.7496 0.4869 0.1337 0.4829 0.4773 0.4666 0.5459 0.57 0.74 0.48 0.59 0.5 rs783036 COSM5618830;COSM5618831;COSM5618832 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4819 0.7621 0.4862 0.5003 0.1314 0.4795 0.4792 0.4777 0.5407 0.5486 0.7495 0.5048 0.4934 0.1197 0.4969 0.4963 0.5082 hom 1313.46 42 1 66831370 . G A 1313.46 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.88;MQ0=0;QD=31.27;VQSLOD=8.9479;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1346,105,0 1 67109335 67109335 A G exonic SGIP1 nonsynonymous SNV SGIP1:NM_001350218:exon6:c.A320G:p.K107R,SGIP1:NM_001308203:exon7:c.A320G:p.K107R,SGIP1:NM_001350217:exon7:c.A404G:p.K135R,SGIP1:NM_032291:exon7:c.A392G:p.K131R 0.28 0.43 0.29 0.27 0.14 0.23 0.2145 0.3782 0.3420 0.2787 0.1569 0.1596 0.2037 0.2342 0.22 0.37 0.15 0.36 0.17 rs7526812 COSM3997636;COSM3997635;COSM146539 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.209 0.197 T 0.006 0.126 B 0.003 0.080 B 0.000 0.559 D 0.999 0.301 P 0.755 0.192 N 2.26 0.176 T -0.86 0.268 N 0.042 0.068 -1.031 0.202 T 0.017 0.068 T . . . 3.225 0.447 22.8 0.987 0.444 0.861 0.450 D c -0.114 0.066 0.981 0.302 0.563 0.310 0 5.3 0.746 2.817 0.475 1.199 0.960 1.000 0.715 1.000 0.888 11.489 0.494 . ENSG00000152760.5|ENSG00000152760.5|ENSG00000152760.5|ENSG00000152760.5|ENSG00000118473.17 Adrenal_Gland|Cells_Transformed_fibroblasts|Lung|Whole_Blood|Whole_Blood 0.2109 0.3816 0.3261 0.1699 0.2703 0.1456 0.1582 0.1960 0.2234 0.2291 0.3773 0.3270 0.1656 0.295 0.1517 0.1537 0.1660 het 2372.60 180 1 67109335 . A G 2372.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.219;DP=180;Dels=0.00;FS=7.139;HRun=1;HaplotypeScore=5.8463;MQ=59.60;MQ0=0;MQRankSum=-1.321;QD=13.18;ReadPosRankSum=0.640;VQSLOD=4.1909;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,88:180:99:2403,0,2582 1 67266756 67266756 T A exonic INSL5 nonsynonymous SNV INSL5:NM_005478:exon1:c.A149T:p.Q50L 0.87 0.78 0.89 0.99 0.83 0.9 0.8764 0.8042 0.8691 0.9951 0.9146 0.8666 0.8612 0.8897 0.84 0.81 0.86 0.84 0.85 rs549148 COSM5904686 1(skin) . . . . . . . . . . . 0.973 0.020 T 0.0 0.026 B 0.0 0.013 B 0.091 0.025 N 1 0.090 P -2.455 0.001 N -2.49 0.892 D 2.09 0.004 N 0.035 0.015 -0.901 0.479 T 0.076 0.305 T . . . -1.428 0.019 0.003 0.211 0.008 0.000 0.002 N c -2.289 -2.249 0.002 0.089 0.487 0.133 0 -5.74 0.022 -0.204 0.093 -1.529 0.010 0.000 0.063 0.001 0.043 6.518 0.213 Insulin-like . . 0.8774 0.7995 0.8706 0.8889 0.9959 0.9079 0.8621 0.8757 0.8873 0.8671 0.8079 0.8675 0.8576 0.9957 0.9147 0.8746 0.9002 hom 3956.73 133 1 67266756 . T A 3956.73 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0918;MQ=58.02;MQ0=0;QD=29.75;VQSLOD=5.8005;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:3956,295,0 1 67288045 67288045 C T exonic WDR78 nonsynonymous SNV WDR78:NM_024763:exon16:c.G2495A:p.R832Q 0.51 0.55 0.54 0.64 0.48 0.35 0.5009 0.5654 0.5993 0.6522 0.3515 0.4902 0.4944 0.4115 0.52 0.56 0.49 0.5 0.5 rs482082 COSM3997640 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.429 0.096 T 0.002 0.119 B 0.002 0.080 B 0.089 0.204 N 0.920 0.278 P 2.25 0.640 M 0.96 0.429 T -0.1 0.108 N 0.034 0.067 -1.057 0.125 T 0.031 0.133 T . . . 1.859 0.284 15.34 0.706 0.091 0.319 0.242 N c -0.795 -0.683 0.000 0.012 0.554 0.246 0 2.34 0.279 1.612 0.363 -1.646 0.008 0.999 0.424 0.009 0.108 6.452 0.210 . . . 0.4973 0.5654 0.5855 0.4950 0.6517 0.3453 0.4948 0.4871 0.4053 0.4984 0.5590 0.5889 0.5199 0.6286 0.3520 0.4804 0.4580 hom 2420.16 76 1 67288045 . C T 2420.16 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.12;MQ0=0;QD=31.84;VQSLOD=9.0691;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2453,187,0 1 67390416 67390416 G C exonic WDR78 nonsynonymous SNV WDR78:NM_024763:exon1:c.C99G:p.C33W,WDR78:NM_207014:exon1:c.C99G:p.C33W 0.84 0.84 0.83 0.88 0.73 0.89 0.7845 0.8313 0.8854 0.8752 0.6343 0.7426 0.7819 0.8661 0.77 0.84 0.73 0.8 0.72 rs3008858 . . . . . . . . . . . . . 0.201 0.203 T 0.0 0.026 B 0.0 0.013 B 0.038 0.018 N 1 0.199 P 0 0.065 N 0.29 0.589 T -0.1 0.085 N 0.081 0.074 -1.105 0.036 T 0.028 0.118 T . . . -0.145 0.081 1.419 0.589 0.060 0.003 0.017 N c -1.531 -1.589 1.000 0.747 0.025 0.001 3 -3.46 0.044 -2.331 0.012 0.023 0.146 0.000 0.063 0.000 0.016 1.902 0.030 . ENSG00000198160.10|ENSG00000198160.10|ENSG00000198160.10|ENSG00000152763.12|ENSG00000198160.10|ENSG00000152763.12|ENSG00000231080.1|ENSG00000152763.12|ENSG00000152763.12|ENSG00000198160.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial|Testis|Testis|Thyroid|Whole_Blood 0.7857 0.8357 0.8756 0.8125 0.8754 0.6390 0.7432 0.7767 0.8658 0.7685 0.8406 0.8469 0.8642 0.8619 0.6440 0.7405 0.7454 hom 4636.40 147 1 67390416 . G C 4636.40 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2156;MQ=59.31;MQ0=0;QD=31.54;VQSLOD=5.9440;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4635,388,0 1 67390468 67390468 C G exonic WDR78 nonsynonymous SNV WDR78:NM_024763:exon1:c.G47C:p.G16A,WDR78:NM_207014:exon1:c.G47C:p.G16A 0.84 0.86 0.84 0.88 0.73 0.89 0.7859 0.8447 0.8858 0.8757 0.6343 0.7429 0.7819 0.8661 0.77 0.85 0.73 0.74 0.73 rs1886686 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.700 0.101 N 1 0.212 P -1.39 0.006 N 0.26 0.593 T 0.21 0.048 N 0.048 0.029 -0.993 0.317 T 0.018 0.075 T . . . -1.294 0.022 0.005 0.651 0.075 0.004 0.020 N c -1.346 -1.275 1.000 0.747 0.025 0.001 3 2.2 0.268 0.941 0.284 0.083 0.191 0.414 0.261 0.002 0.062 4.406 0.108 . ENSG00000198160.10|ENSG00000198160.10|ENSG00000198160.10|ENSG00000152763.12|ENSG00000198160.10|ENSG00000198160.10|ENSG00000152763.12|ENSG00000231080.1|ENSG00000152763.12|ENSG00000198160.10|ENSG00000152763.12|ENSG00000198160.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.7868 0.8496 0.8765 0.8125 0.8756 0.6390 0.7434 0.7778 0.8658 0.7720 0.8530 0.8481 0.8642 0.8617 0.6442 0.7403 0.7469 hom 6707.13 220 1 67390468 . C G 6707.13 Mask AC=2;AF=1.00;AN=2;DP=220;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6433;MQ=58.70;MQ0=0;QD=30.49;VQSLOD=8.3366;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:6706,509,0 1 67450431 67450431 A G exonic MIER1 nonsynonymous SNV MIER1:NM_001077701:exon13:c.A1387G:p.R463G,MIER1:NM_001077700:exon14:c.A1546G:p.R516G,MIER1:NM_001146110:exon15:c.A1438G:p.R480G,MIER1:NM_001146112:exon15:c.A1306G:p.R436G,MIER1:NM_020948:exon15:c.A1438G:p.R480G,MIER1:NM_001350530:exon16:c.A1657G:p.R553G 0.0066 . 0.013 . 0.021 0.0031 0.0149 0.0033 0.0096 0.0003 0.0047 0.0231 0.0156 0.0040 0.019 0.0044 0.026 . 0.049 rs17129563 . . . . . . . . . . . . . 0.011 0.574 D 0.065 0.266 B 0.015 0.166 B 0.000 0.445 D 0.995 0.810 D 1.78 0.463 L 0.53 0.551 T -1.57 0.379 N 0.254 0.310 -1.073 0.086 T 0.055 0.234 T . . . 3.799 0.513 23.4 0.995 0.671 0.912 0.529 D c -0.107 0.088 1.000 0.747 0.731 0.878 0 5.55 0.832 4.312 0.587 1.199 0.960 1.000 0.715 1.000 0.888 14.582 0.677 . . . 0.0147 0.0035 0.0125 0.0100 0.0002 0.0047 0.0244 0.0146 0.0040 0.0145 0.0041 0.0143 0.0132 0 0.0040 0.0243 0.0184 het 1260.61 104 1 67450431 . A G 1260.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DP=104;Dels=0.00;FS=1.621;HRun=1;HaplotypeScore=6.7777;MQ=59.38;MQ0=0;MQRankSum=0.144;QD=12.12;ReadPosRankSum=-1.450;VQSLOD=4.3072;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,47:104:99:1291,0,1675 1 67558739 67558739 C T exonic C1orf141 synonymous SNV C1orf141:NM_001276351:exon8:c.G1152A:p.T384T 0.92 0.92 0.91 0.97 0.81 0.98 0.8872 0.9091 0.9403 0.9725 0.7715 0.8553 0.8830 0.9670 0.88 0.92 0.86 0.94 0.79 rs6588237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8857 0.9083 0.9351 0.8721 0.9702 0.7667 0.8582 0.8692 0.9659 0.8716 0.9102 0.9165 0.8709 0.9753 0.7742 0.8597 0.8490 hom 1475.56 51 1 67558739 . C T 1475.56 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.93;VQSLOD=13.2219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:51:99:1509,123,0 1 67560956 67560956 C T exonic C1orf141 nonsynonymous SNV C1orf141:NM_001276351:exon7:c.G565A:p.V189I 0.94 0.99 0.92 0.97 0.81 0.98 0.8923 0.9662 0.9421 0.9720 0.7709 0.8554 0.8863 0.9676 0.89 0.96 0.86 0.97 0.82 rs11208997 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.052 0.230 N 1.000 0.588 P -0.975 0.012 N 2.09 0.201 T 0.87 0.017 N 0.081 0.243 -0.913 0.466 T 0.005 0.015 T . . . -0.007 0.093 2.522 0.073 0.000 0.007 0.031 N c -1.013 -0.783 0.960 0.284 0.497 0.185 0 4.38 0.519 1.010 0.293 0.145 0.233 1.000 0.715 0.561 0.281 7.485 0.264 . ENSG00000152763.12 Testis 0.8884 0.9672 0.9372 0.8736 0.9705 0.7670 0.8583 0.8700 0.9661 0.8878 0.9672 0.9177 0.8709 0.9753 0.7739 0.8598 0.8510 hom 2610.95 92 1 67560956 . C T 2610.95 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=28.38;VQSLOD=8.0024;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2644,202,0 1 67633812 67633812 G T exonic IL23R nonsynonymous SNV IL23R:NM_144701:exon2:c.G9T:p.Q3H 0.53 0.47 0.37 0.64 0.52 0.62 0.5285 0.4910 0.3401 0.6498 0.4998 0.5295 0.5176 0.6286 0.52 0.5 0.53 0.41 0.57 rs1884444 COSM3751376 1(large_intestine) . . . . . . . . . . . 0.381 0.111 T 0.002 0.090 B 0.005 0.104 B 0.329 0.141 N 1 0.090 P 1.955 0.530 M -1.97 0.852 D 0.05 0.064 N 0.068 0.055 -1.029 0.207 T 0.181 0.529 T . . . 2.109 0.315 16.92 0.950 0.253 0.129 0.173 N c -0.675 -0.587 0.001 0.076 0.554 0.283 0 2.03 0.256 0.735 0.256 0.045 0.158 0.358 0.256 0.003 0.074 5.912 0.182 . . . 0.5240 0.4936 0.3546 0.5974 0.6438 0.5002 0.5309 0.5024 0.6294 0.5148 0.4905 0.4005 0.6074 0.6459 0.5006 0.5241 0.4898 hom 4539.65 149 1 67633812 . G T 4539.65 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6281;MQ=59.19;MQ0=0;QD=30.47;VQSLOD=9.3352;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4539,355,0 1 67685387 67685387 T C exonic IL23R nonsynonymous SNV IL23R:NM_144701:exon7:c.T929C:p.L310P 0.88 0.76 0.85 0.99 0.86 0.95 0.8776 0.7680 0.9220 0.9831 0.8461 0.8626 0.8789 0.9334 0.83 0.76 0.87 0.85 0.85 rs7530511 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.291 N 1.000 0.189 P -2.655 0.000 N 0.61 0.535 T 3.73 0.001 N 0.136 0.471 -1.067 0.102 T 0.044 0.190 T . . . -0.550 0.053 0.165 0.066 0.000 0.001 0.005 N c -1.168 -1.022 0.001 0.085 0.554 0.283 0 4.88 0.630 2.370 0.436 0.066 0.173 0.195 0.240 0.053 0.166 10.070 0.413 Fibronectin type III|Immunoglobulin-like fold . . 0.8827 0.7688 0.9133 0.8960 0.9856 0.8447 0.8660 0.8802 0.9328 0.8409 0.7675 0.9021 0.8907 0.9864 0.8477 0.8604 0.8620 hom 4124.07 145 1 67685387 . T C 4124.07 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1363;MQ=59.48;MQ0=0;QD=28.44;VQSLOD=7.6581;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4123,331,0 1 67795319 67795319 T C exonic IL12RB2 synonymous SNV IL12RB2:NM_001258215:exon6:c.T714C:p.S238S,IL12RB2:NM_001258216:exon6:c.T714C:p.S238S,IL12RB2:NM_001559:exon6:c.T714C:p.S238S,IL12RB2:NM_001258214:exon7:c.T714C:p.S238S,IL12RB2:NM_001319233:exon7:c.T714C:p.S238S 0.85 0.72 0.9 0.81 0.98 0.91 0.9317 0.7517 0.8707 0.7884 0.9790 0.9861 0.9383 0.9243 0.91 0.76 0.99 0.85 0.98 rs1495963 COSM3997645 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9325 0.7474 0.8730 0.9790 0.7828 0.9799 0.9868 0.9440 0.9252 0.9025 0.7543 0.8780 0.9702 0.7861 0.9771 0.9802 0.9542 hom 2784.26 90 1 67795319 . T C 2784.26 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=30.94;VQSLOD=9.1573;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2817,226,0 1 67833527 67833527 G C exonic IL12RB2 nonsynonymous SNV IL12RB2:NM_001258215:exon10:c.G1278C:p.Q426H,IL12RB2:NM_001258216:exon10:c.G1278C:p.Q426H,IL12RB2:NM_001559:exon10:c.G1278C:p.Q426H,IL12RB2:NM_001258214:exon11:c.G1278C:p.Q426H,IL12RB2:NM_001319233:exon11:c.G1278C:p.Q426H 0.039 0.073 0.052 . 0.051 0.01 0.0386 0.0766 0.0295 0 0.0251 0.0470 0.0396 0.0130 0.059 0.079 0.049 0.065 0.082 rs2307145 . . . . . . . . . . . . . 0.142 0.254 T 0.008 0.135 B 0.065 0.259 B 0.722 0.099 N 0.883 0.280 P 2.52 0.738 M 0.38 0.576 T -0.66 0.191 N 0.031 0.021 -1.032 0.198 T 0.069 0.284 T . . . 1.010 0.191 10.72 0.947 0.247 0.093 0.149 N c -0.564 -0.564 1.000 0.747 0.638 0.428 0 1.98 0.252 0.058 0.141 1.048 0.713 0.032 0.204 0.860 0.359 5.164 0.143 Fibronectin type III|Immunoglobulin-like fold|Long hematopoietin receptor\x2c Gp130 family 2\x2c conserved site . . 0.0388 0.0791 0.0337 0.0784 0 0.0255 0.0467 0.0442 0.0137 0.0503 0.0792 0.0370 0.0927 0 0.0303 0.0439 0.0439 het 3102.50 250 1 67833527 . G C 3102.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.817;DP=250;DS;Dels=0.00;FS=2.992;HRun=0;HaplotypeScore=4.7446;MQ=59.40;MQ0=0;MQRankSum=-0.680;QD=12.41;ReadPosRankSum=0.860;VQSLOD=4.9554;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,122:250:99:3132,0,3536 1 67852335 67852335 G A exonic IL12RB2 synonymous SNV IL12RB2:NM_001258215:exon12:c.G1671A:p.T557T,IL12RB2:NM_001559:exon14:c.G1929A:p.T643T,IL12RB2:NM_001258214:exon15:c.G1929A:p.T643T,IL12RB2:NM_001319233:exon15:c.G1929A:p.T643T 0.41 0.2 0.47 0.34 0.58 0.56 0.5277 0.2248 0.4921 0.3391 0.6899 0.5786 0.5584 0.5700 0.46 0.23 0.57 0.3 0.54 rs2228420 COSM3747066 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5306 0.2164 0.4858 0.4603 0.3358 0.6902 0.5804 0.5352 0.5698 0.4845 0.2278 0.5060 0.45 0.3265 0.6871 0.5971 0.5724 het 2448.66 206 1 67852335 . G A 2448.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.750;DP=206;DS;Dels=0.00;FS=7.221;HRun=0;HaplotypeScore=2.7649;MQ=59.28;MQ0=0;MQRankSum=-0.936;QD=11.89;ReadPosRankSum=-0.563;VQSLOD=4.7553;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,97:206:99:2479,0,2850 1 67861520 67861520 C A exonic IL12RB2 synonymous SNV IL12RB2:NM_001258215:exon14:c.C2079A:p.P693P,IL12RB2:NM_001559:exon16:c.C2337A:p.P779P 0.56 0.51 0.59 0.38 0.68 0.65 0.6307 0.5100 0.5697 0.3711 0.7455 0.6760 0.6567 0.6546 0.61 0.51 0.67 0.59 0.68 rs2229546 COSM3997647 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6307 0.5052 0.5694 0.6672 0.3676 0.7463 0.6739 0.6436 0.6532 0.6228 0.5063 0.6002 0.6854 0.3666 0.7467 0.6864 0.6653 hom 8263.56 242 1 67861520 . C A 8263.56 Mask AC=2;AF=1.00;AN=2;DP=242;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2038;MQ=59.31;MQ0=0;QD=34.15;VQSLOD=8.9912;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:8263,656,0 1 68624878 68624878 C T exonic WLS synonymous SNV WLS:NM_001193334:exon2:c.G159A:p.A53A,WLS:NM_001002292:exon3:c.G426A:p.A142A,WLS:NM_024911:exon3:c.G432A:p.A144A 0.35 0.24 0.45 0.41 0.36 0.35 0.3638 0.2484 0.4021 0.4601 0.4586 0.3532 0.3998 0.3622 0.31 0.25 0.34 0.25 0.29 rs3748705 COSM3751378;COSM3751377 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3668 0.2457 0.4003 0.2846 0.4552 0.4590 0.3515 0.3547 0.3582 0.3512 0.2466 0.3878 0.2881 0.4590 0.4628 0.3720 0.3765 het 2138.18 170 1 68624878 . C T 2138.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.083;DP=170;Dels=0.00;FS=0.622;HRun=0;HaplotypeScore=1.9799;MQ=59.04;MQ0=0;MQRankSum=-0.924;QD=12.58;ReadPosRankSum=-0.424;VQSLOD=6.3643;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,83:170:99:2168,0,2089 1 72058552 72058552 G A exonic NEGR1 synonymous SNV NEGR1:NM_173808:exon6:c.C888T:p.T296T 0.85 0.66 0.93 0.85 1. 0.9 0.9433 0.6864 0.9309 0.8724 0.9968 0.9973 0.9659 0.9104 0.9 0.7 1. 0.81 0.99 rs1413368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9473 0.6761 0.9257 0.9899 0.8751 0.9966 0.9977 0.9695 0.9096 0.9005 0.6864 0.9236 0.9868 0.8747 0.9954 0.9979 0.9664 hom 2639.71 82 1 72058552 . G A 2639.71 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=59.72;MQ0=0;QD=32.19;VQSLOD=9.1087;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2673,205,0 1 74575182 74575182 C T exonic LRRIQ3 nonsynonymous SNV LRRIQ3:NM_001105659:exon5:c.G763A:p.A255T,LRRIQ3:NM_001322315:exon5:c.G763A:p.A255T 0.8 0.51 0.89 0.96 0.91 0.89 0.8853 0.5709 0.8775 0.9674 0.8483 0.9196 0.9045 0.9098 0.82 0.59 0.93 0.42 0.8 rs1340472 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.69 0.019 N 3.23 0.273 T 0.28 0.042 N 0.011 0.002 -0.974 0.364 T 0.004 0.012 T . . . -1.140 0.027 0.008 0.059 0.000 0.001 0.005 N c -1.769 -1.715 0.000 0.012 0.487 0.133 0 -1.36 0.086 -1.794 0.018 0.118 0.209 0.000 0.063 0.131 0.199 2.849 0.052 . ENSG00000237324.2|ENSG00000237324.2|ENSG00000254685.2|ENSG00000237324.2|ENSG00000259030.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000259030.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000254685.2|ENSG00000254685.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000237324.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.8867 0.5586 0.8692 0.9525 0.9668 0.8530 0.9196 0.9004 0.9102 0.8080 0.5638 0.8886 0.9470 0.9728 0.8494 0.9128 0.8616 hom 825.91 30 1 74575182 . C T 825.91 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;QD=27.53;VQSLOD=8.3828;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:69.19:859,69,0 1 74665493 74665493 G A exonic FPGT;FPGT-TNNI3K synonymous SNV FPGT-TNNI3K:NM_001112808:exon2:c.G267A:p.V89V,FPGT-TNNI3K:NM_001199327:exon2:c.G267A:p.V89V,FPGT:NM_001199328:exon2:c.G267A:p.V89V,FPGT:NM_001199329:exon2:c.G267A:p.V89V,FPGT:NM_003838:exon2:c.G267A:p.V89V 0.45 0.16 0.39 0.74 0.46 0.55 0.4794 0.2126 0.4536 0.7391 0.4802 0.4720 0.5308 0.5554 0.4 0.23 0.48 0.34 0.47 rs792310 COSM3751380 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4846 0.2082 0.4401 0.5457 0.7410 0.4827 0.4716 0.4784 0.5558 0.4132 0.2174 0.4603 0.5629 0.7321 0.5075 0.4638 0.4308 hom 3348.48 115 1 74665493 . G A 3348.48 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.66;MQ0=0;QD=29.12;VQSLOD=8.6776;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3348,250,0 1 75036812 75036812 C T exonic ERICH3 nonsynonymous SNV ERICH3:NM_001002912:exon14:c.G4582A:p.V1528M 0.97 0.91 1. 1. 1. 1. 0.9918 0.9087 0.9969 1 1 0.9999 0.9945 0.9999 0.97 0.92 1. 0.98 1. rs9326116 . . . . . . . . . . . . . 0.416 0.099 T 0.005 0.119 B 0.006 0.112 B . . . 1 0.090 P -0.345 0.033 N 2.5 0.144 T 0.11 0.057 N 0.008 0.000 -0.929 0.444 T 0.004 0.014 T . . . -0.375 0.063 0.445 0.181 0.006 0.003 0.014 N c -2.060 -2.112 0.042 0.145 0.549 0.223 0 -6.58 0.017 -0.707 0.051 -2.509 0.003 0.000 0.063 0.000 0.016 5.253 0.147 . . . 0.9938 0.9085 0.9973 1 0.9999 1 0.9998 0.9980 0.9999 0.9741 0.9089 0.9940 1 1 1 1 0.9969 hom 7889.53 249 1 75036812 . C T 7889.53 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2736;MQ=59.55;MQ0=0;QD=31.68;VQSLOD=7.2232;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7889,623,0 1 75097426 75097426 G C exonic ERICH3 nonsynonymous SNV ERICH3:NM_001002912:exon7:c.C790G:p.P264A 0.32 0.23 0.47 0.11 0.53 0.34 0.4339 0.2884 0.4528 0.1351 0.4112 0.5155 0.4404 0.3481 0.46 0.32 0.53 0.3 0.53 rs11210490 COSM4785139;COSM3751383 1(large_intestine) . . . . . . . . . . . 0.01 0.564 D 0.944 0.657 P 0.572 0.616 P . . . 0.043 0.380 P 2.615 0.767 M 2.43 0.219 T -4.11 0.769 D 0.164 0.198 -1.055 0.129 T 0.067 0.274 T . . . 1.841 0.282 15.23 0.936 0.228 0.874 0.467 D c 0.117 0.041 0.000 0.068 0.487 0.133 0 3.49 0.389 2.680 0.463 0.142 0.226 1.000 0.715 0.756 0.323 9.857 0.401 . . . 0.4386 0.2842 0.4595 0.5195 0.1397 0.4170 0.5202 0.4671 0.3514 0.4112 0.2877 0.4654 0.5033 0.1547 0.4203 0.5023 0.4292 hom 2924.54 92 1 75097426 . G C 2924.54 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.75;MQ0=0;QD=31.79;VQSLOD=8.5766;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2958,226,0 1 75172001 75172001 T A exonic CRYZ synonymous SNV CRYZ:NM_001134759:exon7:c.A558T:p.G186G,CRYZ:NM_001130043:exon8:c.A867T:p.G289G,CRYZ:NM_001889:exon9:c.A969T:p.G323G,CRYZ:NM_001130042:exon10:c.A969T:p.G323G 0.22 0.035 0.37 0.11 0.46 0.22 0.3573 0.0913 0.3573 0.1076 0.3579 0.4554 0.4007 0.2547 0.34 0.11 0.46 0.22 0.5 rs7527057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3629 0.0819 0.3663 0.4087 0.1070 0.3652 0.4644 0.3837 0.2488 0.3202 0.0879 0.3720 0.3633 0.1077 0.3622 0.4621 0.3645 het 946.94 73 1 75172001 . T A 946.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.018;DP=73;Dels=0.00;FS=4.718;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.083;QD=12.97;ReadPosRankSum=-0.439;VQSLOD=4.4772;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,41:73:99:977,0,772 1 75190452 75190452 C T exonic CRYZ synonymous SNV CRYZ:NM_001130043:exon2:c.G54A:p.G18G,CRYZ:NM_001889:exon2:c.G54A:p.G18G,CRYZ:NM_001130042:exon3:c.G54A:p.G18G 0.77 0.83 0.8 0.77 0.75 0.71 0.7529 0.8116 0.8580 0.7896 0.7194 0.7394 0.7324 0.6920 0.77 0.81 0.74 0.76 0.75 rs1051122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7548 0.8156 0.8555 0.6912 0.7843 0.7157 0.7432 0.7320 0.6928 0.7625 0.8077 0.8373 0.6589 0.7900 0.7257 0.7421 0.7244 hom 2597.27 97 1 75190452 . C T 2597.27 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5783;MQ=58.71;MQ0=0;QD=26.78;VQSLOD=7.1865;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2630,205,0 1 75622616 75622616 C T exonic LHX8 synonymous SNV LHX8:NM_001256114:exon8:c.C819T:p.H273H,LHX8:NM_001001933:exon9:c.C849T:p.H283H 0.39 0.48 0.3 0.21 0.39 0.55 0.4105 0.4700 0.3034 0.1995 0.3591 0.4237 0.3811 0.5270 0.43 0.46 0.41 0.4 0.44 rs941032 COSM3997664 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4013 0.4691 0.3046 0.4081 0.2048 0.3612 0.4244 0.3806 0.5297 0.4176 0.4589 0.3529 0.4073 0.2301 0.3615 0.4298 0.4330 het 2945.30 248 1 75622616 . C T 2945.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.002;DP=248;DS;Dels=0.00;FS=3.587;HRun=0;HaplotypeScore=0.6651;MQ=59.07;MQ0=0;MQRankSum=0.012;QD=11.88;ReadPosRankSum=0.696;VQSLOD=6.4540;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:133,115:248:99:2975,0,3455 1 75681511 75681511 T C exonic SLC44A5 synonymous SNV SLC44A5:NM_001320283:exon17:c.A1638G:p.Q546Q,SLC44A5:NM_001130058:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_152697:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_001320287:exon20:c.A1530G:p.Q510Q,SLC44A5:NM_001320285:exon21:c.A1530G:p.Q510Q 0.9 0.88 0.89 1. 0.83 0.9 0.8680 0.8653 0.8968 0.9945 0.8446 0.8441 0.8400 0.8909 0.85 0.86 0.84 0.84 0.75 rs595009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8692 0.8658 0.8940 0.8366 0.9945 0.8421 0.8464 0.8478 0.8902 0.8618 0.8634 0.8950 0.8477 0.9944 0.8521 0.8479 0.8535 het 525.17 64 1 75681511 . T C 525.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.329;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.47;MQ0=0;MQRankSum=1.018;QD=8.21;ReadPosRankSum=0.321;VQSLOD=5.7493;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,26:64:99:555,0,998 1 75716925 75716925 C T exonic SLC44A5 synonymous SNV SLC44A5:NM_001320283:exon5:c.G297A:p.V99V,SLC44A5:NM_001130058:exon7:c.G315A:p.V105V,SLC44A5:NM_152697:exon7:c.G315A:p.V105V,SLC44A5:NM_001320287:exon8:c.G189A:p.V63V,SLC44A5:NM_001320285:exon9:c.G189A:p.V63V 0.74 0.54 0.76 0.95 0.73 0.81 0.7398 0.5635 0.8420 0.9316 0.7224 0.7223 0.7196 0.7579 0.68 0.57 0.73 0.67 0.65 rs588098 COSM4144186;COSM4144185 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7458 0.5602 0.8364 0.6899 0.9317 0.7254 0.7236 0.7390 0.7496 0.6943 0.5769 0.8103 0.6821 0.9242 0.7298 0.7221 0.7143 hom 2165.01 82 1 75716925 . C T 2165.01 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7678;MQ=58.93;MQ0=0;QD=26.40;VQSLOD=6.7425;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2198,166,0 1 76198785 76198785 G A exonic ACADM synonymous SNV ACADM:NM_001286043:exon5:c.G336A:p.A112A 0.23 0.29 0.33 0.023 0.32 0.21 0.2730 0.2847 0.3031 0.0278 0.2810 0.3177 0.2666 0.1980 0.32 0.29 0.33 0.2 . rs3818855 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2754 0.2882 0.3093 0.2202 0.0267 0.2819 0.3268 0.2999 0.2010 0.2929 0.2939 0.2995 0.1921 0.0290 0.2781 0.3259 0.2941 het 895.16 82 1 76198785 . G A 895.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.125;DP=82;Dels=0.00;FS=0.835;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;MQRankSum=1.070;QD=10.92;ReadPosRankSum=0.014;VQSLOD=6.4619;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,36:82:99:925,0,995 1 76227022 76227022 A G exonic ACADM synonymous SNV ACADM:NM_001286044:exon8:c.A594G:p.V198V,ACADM:NM_001286042:exon10:c.A1053G:p.V351V,ACADM:NM_000016:exon11:c.A1161G:p.V387V,ACADM:NM_001127328:exon11:c.A1173G:p.V391V,ACADM:NM_001286043:exon12:c.A1260G:p.V420V 0.17 0.14 0.25 0.023 0.3 0.2 0.2333 0.1473 0.2040 0.0273 0.2542 0.2885 0.2285 0.1846 0.25 0.16 0.3 0.17 0.23 rs1061337 COSM5038163;COSM5038164 1(skin) Benign|Likely benign not_specified|Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency RCV000077878.6|RCV000327270.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0220710:201450:ORPHA42:128596003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2347 0.1460 0.2144 0.2101 0.0258 0.2563 0.2950 0.2639 0.1876 0.2308 0.1540 0.2189 0.1788 0.0290 0.2564 0.2914 0.2571 het 1825.26 116 1 76227022 . A G 1825.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.813;DP=116;Dels=0.00;FS=4.795;HRun=1;HaplotypeScore=1.4942;MQ=59.44;MQ0=0;MQRankSum=-1.840;QD=15.74;ReadPosRankSum=-0.802;VQSLOD=4.9856;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,64:116:99:1855,0,1378 1 76257892 76257892 A T exonic RABGGTB synonymous SNV RABGGTB:NM_004582:exon7:c.A606T:p.A202A 0.9 0.99 0.81 0.74 0.94 0.95 0.8991 0.9765 0.7313 0.7359 0.8951 0.9263 0.9251 0.9434 0.95 0.97 0.94 0.95 0.73 rs12703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8920 0.9758 0.7400 0.9368 0.7385 0.8963 0.9296 0.9055 0.9458 0.9159 0.9761 0.7613 0.9371 0.7559 0.8923 0.9131 0.8982 hom 3093.39 91 1 76257892 . A T 3093.39 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=33.99;VQSLOD=9.3022;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:3126,244,0 1 76344705 76344705 T C exonic MSH4 synonymous SNV MSH4:NM_002440:exon12:c.T1569C:p.Y523Y 0.34 0.024 0.23 0.7 0.3 0.5 0.3450 0.0773 0.2664 0.6986 0.2861 0.3235 0.3215 0.4939 0.24 0.086 0.32 0.27 0.28 rs5745448 COSM3747078;COSM3747077 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3448 0.0691 0.2642 0.3050 0.7043 0.2906 0.3270 0.3005 0.4931 0.2719 0.0799 0.2667 0.2649 0.7197 0.2944 0.3281 0.3112 hom 2026.43 68 1 76344705 . T C 2026.43 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;QD=29.80;VQSLOD=8.6457;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2059,153,0 1 76344711 76344711 A T exonic MSH4 synonymous SNV MSH4:NM_002440:exon12:c.A1575T:p.L525L 0.79 0.68 0.78 0.99 0.75 0.79 0.7963 0.7108 0.8371 0.9873 0.8060 0.7715 0.8223 0.8161 0.74 0.71 0.76 0.75 0.75 rs5745449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7981 0.7089 0.8259 0.8286 0.9875 0.8069 0.7654 0.7782 0.8119 0.7759 0.7147 0.8234 0.8377 0.9833 0.8055 0.7774 0.7898 hom 2150.45 75 1 76344711 . A T 2150.45 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;QD=28.67;VQSLOD=8.1308;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2183,166,0 1 76397972 76397972 C T exonic ASB17 nonsynonymous SNV ASB17:NM_080868:exon1:c.G5A:p.S2N 0.4 0.19 0.3 0.71 0.32 0.5 0.3856 0.2039 0.3538 0.7095 0.3116 0.3525 0.3516 0.5236 0.3 0.2 0.35 0.32 0.3 rs3795251 COSM3735983 1(liver);1(skin) . . . . . . . . . . . 0.216 0.192 T 0.002 0.090 B 0.002 0.063 B 0.003 0.350 N 0.990 0.242 P 0.46 0.130 N 1.3 0.356 T 0.53 0.028 N 0.046 0.026 -1.034 0.190 T 0.019 0.079 T . . . 1.428 0.234 12.93 0.905 0.192 0.647 0.322 D c -0.799 -0.628 0.000 0.012 0.487 0.133 0 3.13 0.349 1.337 0.332 -0.880 0.027 1.000 0.715 0.892 0.376 8.176 0.303 . ENSG00000057468.6|ENSG00000230863.2|ENSG00000057468.6 Muscle_Skeletal|Testis|Testis 0.3827 0.1960 0.3508 0.3139 0.7144 0.3159 0.3559 0.3385 0.5009 0.3301 0.2070 0.3473 0.2733 0.7335 0.3176 0.3604 0.3480 hom 1720.63 58 1 76397972 . C T 1720.63 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=29.67;VQSLOD=8.6711;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1754,138,0 1 77634948 77634948 G A exonic PIGK synonymous SNV PIGK:NM_005482:exon4:c.C372T:p.Y124Y 0.99 0.95 1. 1. 1. 1. 0.9955 0.9526 0.9982 1 1 0.9997 0.9967 0.9998 0.98 0.95 1. 0.96 0.9 rs1779199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9523 0.9980 0.9966 1 1 0.9999 0.9978 0.9998 0.9844 0.9456 0.9952 1 1 1 0.9999 0.9969 hom 1547.05 50 1 77634948 . G A 1547.05 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=30.94;VQSLOD=8.8264;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1580,123,0 1 77759578 77759578 A G exonic AK5 synonymous SNV AK5:NM_012093:exon3:c.A270G:p.A90A,AK5:NM_174858:exon3:c.A348G:p.A116A 0.12 0.061 0.1 0.14 0.2 0.084 0.1681 0.0703 0.0740 0.1384 0.2874 0.2097 0.1600 0.0954 0.16 0.076 0.21 0.076 0.16 rs2815311 COSM3997667 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1650 0.0691 0.0780 0.0907 0.1396 0.2827 0.2105 0.1662 0.0936 0.1756 0.0747 0.0895 0.1026 0.1533 0.3064 0.2100 0.2163 het 1173.16 77 1 77759578 . A G 1173.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.858;DP=77;Dels=0.00;FS=10.060;HRun=1;HaplotypeScore=1.8279;MQ=59.52;MQ0=0;MQRankSum=-0.749;QD=15.24;ReadPosRankSum=0.966;VQSLOD=3.6112;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,45:77:99:1203,0,923 1 77763542 77763542 G A exonic AK5 synonymous SNV AK5:NM_012093:exon5:c.G531A:p.K177K,AK5:NM_174858:exon5:c.G609A:p.K203K 0.98 0.93 0.99 1. 1. 1. 0.9955 0.9504 0.9979 1 1 1.0000 0.9989 1 0.98 0.95 1. 0.99 1. rs1167206 . . Benign not_specified RCV000454614.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9483 0.9978 1 1 1 0.9999 0.9991 1 0.9856 0.9498 0.9988 1 1 1 0.9998 0.9949 hom 1710.07 58 1 77763542 . G A 1710.07 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.6651;MQ=59.60;MQ0=0;QD=29.48;VQSLOD=7.8991;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1743,135,0 1 78024345 78024345 - TAT exonic AK5 nonframeshift insertion AK5:NM_012093:exon14:c.1601_1602insTAT:p.I535_F536insI,AK5:NM_174858:exon14:c.1679_1680insTAT:p.I561_F562insI 0.62 0.33 0.82 0.74 0.75 0.62 0.7135 0.3898 0.8362 0.7415 0.6975 0.7544 0.7015 0.6591 0.64 0.41 0.76 . . rs79671213 COSM4603455 19(upper_aerodigestive_tract);6(central_nervous_system) Benign not_specified RCV000454873.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7230 0.3872 0.8355 0.5896 0.7453 0.6972 0.7670 0.6955 0.6610 0.6576 0.4003 0.8425 0.6225 0.7335 0.7095 0.7752 0.6977 het 2795.82 112 1 78024345 . C CTAT 2795.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.033;DP=112;FS=1.580;HRun=0;HaplotypeScore=378.0882;MQ=58.24;MQ0=0;MQRankSum=-1.163;QD=24.96;ReadPosRankSum=1.087;set=variant2 GT:AD:DP:GQ:PL 0/1:64,47:112:99:2835,0,2206 1 78184325 78184325 A G exonic USP33 synonymous SNV USP33:NM_201624:exon16:c.T1693C:p.L565L,USP33:NM_015017:exon17:c.T1786C:p.L596L,USP33:NM_201626:exon17:c.T1762C:p.L588L 0.36 0.44 0.2 0.27 0.27 0.52 0.2947 0.4207 0.1798 0.2668 0.2921 0.2541 0.3274 0.4756 0.3 0.4 0.25 0.38 0.27 rs12142671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2851 0.4128 0.1715 0.4299 0.2600 0.2949 0.2416 0.3094 0.4642 0.2911 0.4052 0.1722 0.4106 0.2719 0.2811 0.2322 0.3098 het 519.15 56 1 78184325 . A G 519.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.706;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=-0.679;QD=9.27;ReadPosRankSum=0.176;VQSLOD=6.4814;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,22:56:99:549,0,849 1 78201745 78201745 G T exonic USP33 synonymous SNV USP33:NM_201624:exon6:c.C450A:p.A150A,USP33:NM_015017:exon7:c.C543A:p.A181A,USP33:NM_201626:exon7:c.C543A:p.A181A 0.49 0.75 0.26 0.41 0.33 0.55 0.3660 0.6916 0.2149 0.3797 0.3355 0.3078 0.3877 0.5059 0.43 0.68 0.3 0.5 0.16 rs2296227 COSM3751392 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3544 0.6919 0.2148 0.4957 0.3777 0.3389 0.2958 0.3849 0.5002 0.4092 0.6844 0.2200 0.4702 0.3691 0.3253 0.2847 0.3701 het 1653.17 151 1 78201745 . G T 1653.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.678;DP=151;Dels=0.00;FS=1.303;HRun=1;HaplotypeScore=3.6713;MQ=59.39;MQ0=0;MQRankSum=0.580;QD=10.95;ReadPosRankSum=-0.118;VQSLOD=6.4011;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,66:151:99:1683,0,1938 1 78280825 78280825 C T exonic MIGA1 synonymous SNV MIGA1:NM_001270384:exon7:c.C804T:p.L268L,MIGA1:NM_198549:exon7:c.C804T:p.L268L 0.0004 . . . 0.002 . 0.0033 0.0012 0.0003 0.0001 0.0043 0.0052 0.0034 0.0006 0.0035 0.0014 0.0047 . . rs34847707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0010 0.0004 0.0285 5.929e-05 0.0038 0.0043 0.0052 0.0006 0.0034 0.0015 0 0.0364 0 0.0034 0.0041 0.0081 het 513.29 41 1 78280825 . C T 513.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.183;DP=41;Dels=0.00;FS=12.143;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.760;QD=12.52;ReadPosRankSum=-0.146;VQSLOD=3.6589;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,24:41:99:543,0,454 1 79392756 79392756 C A exonic ADGRL4 nonsynonymous SNV ADGRL4:NM_022159:exon8:c.G898T:p.V300L 0.62 0.49 0.68 0.7 0.62 0.66 0.6478 0.5149 0.7028 0.6999 0.6762 0.6430 0.6417 0.6698 0.6 0.53 0.64 0.62 0.48 rs12754818 COSM3751404 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.189 P -2.085 0.002 N 2.73 0.119 T -0.39 0.136 N 0.096 0.097 -0.917 0.460 T 0.003 0.009 T . . . 1.469 0.239 13.15 0.412 0.029 0.197 0.206 N c -0.774 -0.497 0.000 0.072 0.707 0.730 0 3.74 0.419 1.395 0.339 -0.529 0.049 1.000 0.715 0.876 0.367 5.264 0.148 GAIN domain\x2c N-terminal . . 0.6507 0.5085 0.6979 0.6085 0.7047 0.6684 0.6435 0.6459 0.6677 0.6195 0.5201 0.6743 0.5894 0.6900 0.6559 0.6570 0.6497 hom 1219.08 43 1 79392756 . C A 1219.08 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.13;MQ0=0;QD=28.35;VQSLOD=8.4675;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:93.30:1252,93,0 1 82421596 82421596 C T exonic ADGRL2 synonymous SNV ADGRL2:NM_001297705:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297706:exon9:c.C1818T:p.P606P,ADGRL2:NM_001350699:exon9:c.C1818T:p.P606P,ADGRL2:NM_012302:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297704:exon10:c.C1818T:p.P606P,ADGRL2:NM_001330645:exon10:c.C1857T:p.P619P,ADGRL2:NM_001350698:exon11:c.C1869T:p.P623P 0.99 0.98 0.99 1. 1. 1. 0.9979 0.9770 0.9987 1 1 1.0000 1 1 0.99 0.98 1. 0.98 0.98 rs11163397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9984 0.9768 0.9990 1 1 1 1.0000 0.9996 1.0000 0.9936 0.9778 0.9976 1 1 1 1 0.9969 hom 4015.60 134 1 82421596 . C T 4015.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.602;DP=134;Dels=0.00;FS=3.457;HRun=0;HaplotypeScore=1.9315;MQ=59.83;MQ0=0;MQRankSum=-1.680;QD=29.97;ReadPosRankSum=0.378;VQSLOD=4.2090;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,133:134:99:3982,271,0 1 82453022 82453022 A G exonic ADGRL2 synonymous SNV ADGRL2:NM_001297705:exon20:c.A3507G:p.L1169L 0.0046 0.0008 0.0014 . 0.018 0.0031 0.0092 0.0034 0.0018 0 0.0065 0.0147 0.0072 0.0019 0.01 0.0051 0.012 0.022 . rs76995529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0086 0.0024 0.0022 0.0108 0 0.0058 0.0153 0.0071 0.0016 0.0073 0.0034 0.0024 0.0066 0 0.0049 0.0112 0.0061 het 255.19 31 1 82453022 . A G 255.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.002;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=58.79;MQ0=0;MQRankSum=0.723;QD=8.23;ReadPosRankSum=1.094;VQSLOD=5.2431;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,11:31:99:285,0,545 1 85009894 85009894 A G exonic SPATA1 nonsynonymous SNV SPATA1:NM_001310156:exon9:c.A793G:p.K265E 0.24 0.23 0.16 0.2 0.21 0.36 0.3230 0.3025 0.2245 0.2464 0.2557 0.3269 0.3059 0.4090 0.23 0.25 0.22 0.24 . rs12143652 COSM1126937 1(skin);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2163 0.2374 0.1025 0.2560 0.1716 0.1733 0.2231 0.2028 0.3587 0.2087 0.2350 0.1289 0.1987 0.1768 0.1646 0.2121 0.2031 het 148.64 19 1 85009894 . A G 148.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.096;DP=19;Dels=0.00;FS=2.077;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.044;QD=7.82;ReadPosRankSum=0.395;VQSLOD=5.9180;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,6:19:99:179,0,284 1 85016177 85016177 A G exonic SPATA1 synonymous SNV SPATA1:NM_001310156:exon12:c.A1254G:p.L418L 0.48 0.76 0.41 0.26 0.35 0.49 0.5023 0.7362 0.4706 0.3609 0.4414 0.4652 0.4646 0.5507 0.46 0.68 0.36 0.59 . rs1400777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3744 0.7055 0.3086 0.3556 0.2168 0.3024 0.3613 0.3593 0.5055 0.4362 0.7023 0.3628 0.3344 0.2363 0.2938 0.3464 0.3678 hom 552.23 21 1 85016177 . A G 552.23 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.30;VQSLOD=13.6355;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:42.14:585,42,0 1 85029077 85029077 C T exonic CTBS nonsynonymous SNV CTBS:NM_004388:exon6:c.G820A:p.V274I 0.15 0.11 0.13 0.03 0.2 0.28 0.1973 0.1332 0.0813 0.0316 0.1818 0.2228 0.2104 0.3068 0.19 0.13 0.22 0.18 0.25 rs15911 COSM4144198 1(pancreas);1(thyroid) . . . . . . . . . . . 0.109 0.292 T 0.489 0.351 P 0.257 0.376 B 0.000 0.497 D 0.017 0.399 P 3.1 0.878 M 3.21 0.071 T -0.63 0.185 N 0.039 0.019 -1.041 0.170 T 0.014 0.055 T . . . 3.178 0.441 22.7 0.996 0.747 0.862 0.452 D c 0.027 0.041 0.969 0.290 0.732 0.924 0 2.56 0.297 0.738 0.256 0.935 0.490 0.991 0.370 0.996 0.625 5.745 0.173 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase\x2c catalytic domain ENSG00000122432.12|ENSG00000122432.12|ENSG00000174021.6|ENSG00000122432.12 Nerve_Tibial|Testis|Thyroid|Thyroid 0.1923 0.1259 0.0867 0.2608 0.0341 0.1746 0.2191 0.1846 0.3043 0.1661 0.1179 0.1178 0.1987 0.0425 0.1669 0.2085 0.1789 het 422.28 43 1 85029077 . C T 422.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.556;DP=43;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-0.768;QD=9.82;ReadPosRankSum=-0.038;VQSLOD=5.9861;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,20:43:99:452,0,597 1 85031630 85031630 G A exonic CTBS synonymous SNV CTBS:NM_004388:exon4:c.C591T:p.I197I 0.3 0.34 0.26 0.23 0.25 0.38 0.2713 0.3292 0.2030 0.2140 0.1991 0.2607 0.2676 0.3846 0.28 0.33 0.26 0.32 0.33 rs2994953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2591 0.3165 0.1965 0.3129 0.2095 0.1949 0.2547 0.2439 0.3750 0.2576 0.3238 0.2488 0.2567 0.2289 0.1840 0.2418 0.2244 het 1479.50 90 1 85031630 . G A 1479.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.035;DP=90;Dels=0.00;FS=2.968;HRun=1;HaplotypeScore=0.5784;MQ=59.12;MQ0=0;MQRankSum=0.353;QD=16.44;ReadPosRankSum=1.255;VQSLOD=6.0757;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,53:90:99:1509,0,820 1 85039955 85039955 G A exonic CTBS synonymous SNV CTBS:NM_004388:exon1:c.C144T:p.L48L 0.27 0.26 0.25 0.23 0.25 0.39 0.3475 0.3431 0.2988 0.2918 0.3072 0.3361 0.3862 0.4284 0.25 0.25 0.25 0.23 0.16 rs2303307 COSM1561051 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2633 0.2551 0.2043 0.3436 0.2197 0.2032 0.2556 0.2579 0.3933 0.2427 0.2528 0.2368 0.2872 0.2287 0.1964 0.2492 0.2346 het 166.12 15 1 85039955 . G A 166.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.927;DP=15;Dels=0.00;FS=9.249;HRun=1;HaplotypeScore=0.8941;MQ=58.45;MQ0=0;MQRankSum=-1.324;QD=11.07;ReadPosRankSum=-0.150;VQSLOD=4.2887;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:196,0,215 1 85488030 85488030 G A exonic MCOLN3 synonymous SNV MCOLN3:NM_001253693:exon9:c.C981T:p.L327L,MCOLN3:NM_018298:exon10:c.C1149T:p.L383L 0.8 0.83 0.75 0.73 0.84 0.8 0.8234 0.8339 0.7250 0.7368 0.8109 0.8549 0.8238 0.8086 0.85 0.83 0.86 0.84 0.84 rs2028304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8190 0.8336 0.7314 0.8811 0.7373 0.8155 0.8535 0.8275 0.8091 0.8341 0.8351 0.7446 0.8676 0.7419 0.8268 0.8494 0.8337 hom 2858.17 96 1 85488030 . G A 2858.17 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.35;MQ0=0;QD=29.77;VQSLOD=9.0061;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2891,220,0 1 85594466 85594466 G A exonic WDR63 nonsynonymous SNV WDR63:NM_001288563:exon20:c.G2276A:p.R759H,WDR63:NM_145172:exon21:c.G2393A:p.R798H 0.22 0.32 0.24 0.21 0.18 0.097 0.1751 0.3079 0.2040 0.2373 0.1649 0.1678 0.1788 0.0735 0.21 0.3 0.17 0.23 0.15 rs709783 COSM1344585 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.009 0.305 N 0.914 0.274 P -1.9 0.002 N 1.08 0.394 T 3.25 0.001 N 0.028 0.055 -1.026 0.216 T 0.016 0.064 T . . . 1.678 0.263 14.28 0.615 0.066 0.236 0.219 N c -0.752 -0.513 0.568 0.215 0.554 0.246 0 3.49 0.389 1.149 0.310 -0.199 0.102 0.954 0.330 0.926 0.400 9.915 0.404 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40/YVTN repeat-like-containing domain ENSG00000162643.8|ENSG00000162643.8 Cells_Transformed_fibroblasts|Testis 0.1733 0.3085 0.1955 0.2365 0.2317 0.1640 0.1623 0.1849 0.0725 0.2089 0.2992 0.1974 0.2119 0.2401 0.1694 0.1661 0.1605 het 952.30 125 1 85594466 . G A 952.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.327;DP=125;Dels=0.00;FS=2.495;HRun=0;HaplotypeScore=4.2355;MQ=58.44;MQ0=0;MQRankSum=0.482;QD=7.62;ReadPosRankSum=-0.659;VQSLOD=4.9086;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,43:125:99:982,0,1801 1 85624549 85624549 C T exonic SYDE2 nonsynonymous SNV SYDE2:NM_032184:exon7:c.G3469A:p.V1157I 1. 1. 1. 1. 1. 1. 0.9995 0.9961 0.9999 1 1 0.9996 1 0.9999 1. 1. 1. 1. . rs709786 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.481 N 1.000 0.186 P -2.1 0.002 N 0.99 0.418 T 0.24 0.045 N 0.017 0.005 -0.946 0.416 T 0.009 0.033 T . . . 0.328 0.126 5.960 0.281 0.014 0.162 0.191 N c -0.881 -0.613 0.776 0.237 0.638 0.428 0 2.56 0.297 2.143 0.416 0.154 0.240 0.990 0.367 0.995 0.604 6.744 0.225 . . . 0.9996 0.9965 1.0000 1 1 1 0.9997 1 0.9999 0.9986 0.9955 1 1 1 1 0.9998 1 hom 957.97 34 1 85624549 . C T 957.97 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=28.18;VQSLOD=8.6517;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:75.24:991,75,0 1 85624864 85624864 G A exonic SYDE2 synonymous SNV SYDE2:NM_032184:exon7:c.C3154T:p.L1052L 0.98 0.93 0.99 1. 1. 1. 0.9956 0.9487 0.9982 1 1 0.9999 0.9978 0.9999 0.99 0.95 1. 0.99 . rs817412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9963 0.9468 0.9977 1 1 1 0.9999 0.9976 0.9998 0.9844 0.9451 0.9988 1 1 1 1 0.9969 hom 3482.47 102 1 85624864 . G A 3482.47 Mask AC=2;AF=1.00;AN=2;DP=102;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5226;MQ=59.18;MQ0=0;QD=34.14;VQSLOD=9.6517;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3482,274,0 1 85648620 85648620 C T exonic SYDE2 nonsynonymous SNV SYDE2:NM_032184:exon3:c.G1705A:p.V569I 0.98 0.93 0.99 1. 1. 1. 0.9953 0.9455 0.9978 1 1 0.9999 0.9978 0.9999 0.98 0.95 1. 0.99 . rs817443 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.919 0.085 N 1 0.090 P -0.55 0.024 N 3.34 0.061 T -0.26 0.112 N 0.008 0.003 -0.913 0.465 T 0.001 0.004 T . . . -1.053 0.030 0.012 0.356 0.022 0.005 0.025 N c -1.382 -1.207 0.959 0.283 0.554 0.283 0 -1.28 0.088 -0.574 0.059 0.154 0.240 0.001 0.137 0.914 0.390 7.034 0.240 . . . 0.9960 0.9433 0.9974 1 1 1 0.9999 0.9971 0.9998 0.9838 0.9429 0.9988 1 1 1 1 0.9959 hom 5164.93 170 1 85648620 . C T 5164.93 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.2820;MQ=58.77;MQ0=0;QD=30.38;VQSLOD=7.9478;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:5164,403,0 1 85742012 85742012 G C exonic BCL10 synonymous SNV BCL10:NM_001320715:exon1:c.C24G:p.L8L,BCL10:NM_003921:exon1:c.C24G:p.L8L 0.23 0.27 0.2 0.074 0.31 0.27 0.2755 0.2510 0.1866 0.0773 0.3180 0.3150 0.3073 0.2792 0.29 0.25 0.31 0.28 0.36 rs11576939 COSM4144206 1(thyroid) Benign not_specified RCV000455048.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2720 0.2455 0.1899 0.3332 0.0762 0.3155 0.3151 0.2852 0.2764 0.2826 0.2455 0.2045 0.3477 0.0759 0.3263 0.3191 0.2888 hom 1904.60 61 1 85742012 . G C 1904.60 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.39;MQ0=0;QD=31.22;VQSLOD=9.3508;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1938,147,0 1 86173943 86173943 C T exonic ZNHIT6 nonsynonymous SNV ZNHIT6:NM_001170670:exon1:c.G25A:p.G9R,ZNHIT6:NM_017953:exon1:c.G25A:p.G9R 0.025 0.0061 0.045 . 0.075 0.0092 0.0591 0.0117 0.0378 0.0001 0.0751 0.0841 0.0529 0.0245 0.06 0.018 0.082 0.011 0.11 rs17399721 . . . . . . . . . . . . . 0.026 0.555 D 0.839 0.480 P 0.276 0.384 B 0.765 0.096 N 1 0.090 N 0.55 0.145 N 0.86 0.468 T -0.96 0.255 N 0.082 0.081 -1.089 0.058 T 0.046 0.198 T . . . 3.584 0.488 23.2 0.993 0.582 0.824 0.414 D c -0.067 -0.109 1.000 0.747 0.442 0.072 0 3.81 0.429 3.182 0.504 0.883 0.387 0.233 0.245 0.576 0.284 11.495 0.495 . ENSG00000117174.6|ENSG00000117174.6 Lung|Thyroid 0.0586 0.0110 0.0409 0.0949 5.805e-05 0.0762 0.0819 0.0692 0.0247 0.0524 0.0147 0.0537 0.0828 0 0.0678 0.0747 0.0704 het 2021.26 145 1 86173943 . C T 2021.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.188;DP=145;Dels=0.00;FS=7.519;HRun=2;HaplotypeScore=2.5141;MQ=59.58;MQ0=0;MQRankSum=0.855;QD=13.94;ReadPosRankSum=1.164;VQSLOD=4.8205;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,78:145:99:2051,0,1995 1 86375654 86375654 C G exonic COL24A1 synonymous SNV COL24A1:NM_001349955:exon26:c.G549C:p.P183P,COL24A1:NM_152890:exon26:c.G2649C:p.P883P 0.69 0.57 0.78 0.8 0.7 0.67 0.7044 0.6028 0.8058 0.7997 0.6884 0.7039 0.71 0.6525 0.67 0.62 0.7 0.65 0.66 rs1502657 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7100 0.6008 0.7967 0.7579 0.7969 0.6981 0.6986 0.7342 0.6512 0.6717 0.6015 0.7770 0.7649 0.7729 0.6847 0.6889 0.7012 hom 3940.37 135 1 86375654 . C G 3940.37 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7046;MQ=58.55;MQ0=0;QD=29.19;VQSLOD=8.5443;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:3940,298,0 1 86557967 86557967 G A exonic COL24A1 nonsynonymous SNV COL24A1:NM_152890:exon6:c.C1636T:p.P546S 0.37 0.36 0.45 0.38 0.38 0.31 0.3614 0.3563 0.3926 0.3950 0.2671 0.3751 0.3733 0.3068 0.37 0.35 0.38 0.39 0.34 rs11161732 COSM3997686 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.017 0.512 D 0.0 0.119 B 0.0 0.139 B 0.045 0.236 N 1.000 0.192 P 0.47 0.131 N -3.21 0.933 D 1.12 0.012 N 0.049 0.084 -0.568 0.661 T 0.363 0.724 T . . . 2.193 0.325 17.46 0.793 0.122 0.621 0.314 D c -0.505 -0.290 0.000 0.065 0.554 0.246 0 3.91 0.442 2.469 0.445 0.015 0.141 1.000 0.715 0.970 0.461 11.155 0.475 . ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Nerve_Tibial|Ovary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3644 0.3551 0.4148 0.4536 0.3868 0.2648 0.3745 0.3861 0.3057 0.3550 0.3534 0.4069 0.4503 0.3876 0.2826 0.3652 0.3439 het 388.43 39 1 86557967 . G A 388.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.629;DP=39;Dels=0.00;FS=4.977;HRun=0;HaplotypeScore=1.9512;MQ=60.00;MQ0=0;MQRankSum=-1.402;QD=9.96;ReadPosRankSum=0.411;VQSLOD=5.0253;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,17:39:99:418,0,545 1 86590915 86590915 G A exonic COL24A1 synonymous SNV COL24A1:NM_152890:exon3:c.C1104T:p.S368S 0.96 0.89 0.99 0.97 1. 1. 0.9892 0.9084 0.9953 0.9693 1 0.9989 0.9978 0.9998 0.97 0.92 1. 0.96 0.99 rs2174767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9906 0.9086 0.9958 0.9878 0.9693 1 0.9994 0.9934 0.9996 0.9729 0.9109 0.9928 0.9868 0.9773 1 0.9997 0.9898 hom 4279.46 140 1 86590915 . G A 4279.46 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4942;MQ=59.84;MQ0=0;QD=30.57;VQSLOD=8.9055;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4279,340,0 1 86590948 86590948 A G exonic COL24A1 synonymous SNV COL24A1:NM_152890:exon3:c.T1071C:p.S357S 0.14 0.079 0.16 0.06 0.17 0.25 0.1631 0.0824 0.1901 0.0646 0.2624 0.1528 0.1689 0.2450 0.13 0.086 0.15 0.12 0.11 rs11161746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1638 0.0821 0.1862 0.0793 0.0640 0.2603 0.1517 0.1480 0.2397 0.1487 0.0883 0.1623 0.0828 0.0652 0.2438 0.1668 0.2171 het 1348.27 115 1 86590948 . A G 1348.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.636;DP=115;Dels=0.00;FS=1.515;HRun=0;HaplotypeScore=0.0000;MQ=59.80;MQ0=0;MQRankSum=0.665;QD=11.72;ReadPosRankSum=-0.710;VQSLOD=6.5517;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,49:115:99:1378,0,1751 1 86591209 86591209 C T exonic COL24A1 synonymous SNV COL24A1:NM_152890:exon3:c.G810A:p.P270P . . . . . . 0.0001 0 0 0 0 0.0002 0 0.0002 0.0002 . 0.0002 . . rs372411859 COSM4617858 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 2.992e-05 0.0001 5.801e-05 0 0.0003 0 9.747e-05 0.0002 0 0 0 0 0 0.0003 0 het 1316.22 116 1 86591209 . C T 1316.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.979;DP=116;Dels=0.00;FS=8.740;HRun=0;HaplotypeScore=2.2426;MQ=59.80;MQ0=0;MQRankSum=1.319;QD=11.35;ReadPosRankSum=-0.456;VQSLOD=2.8190;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,55:116:99:1346,0,1616 1 86591837 86591837 G A exonic COL24A1 nonsynonymous SNV COL24A1:NM_152890:exon3:c.C182T:p.A61V 0.65 0.54 0.72 0.62 0.74 0.66 0.7053 0.5715 0.7325 0.6218 0.6578 0.7430 0.7220 0.6746 0.7 0.6 0.74 0.49 0.74 rs11161747 COSM5438811 1(oesophagus) . . . . . . . . . . . 0.44 0.092 T 0.0 0.026 B 0.0 0.013 B 0.285 0.149 N 1 0.090 P -0.83 0.015 N -2.68 0.904 D 0.4 0.035 N 0.006 0.176 -1.011 0.266 T 0.185 0.534 T . . . 1.160 0.206 11.53 0.788 0.121 0.174 0.196 N c -0.782 -0.596 0.000 0.012 0.554 0.246 0 0.032 0.134 -0.025 0.123 0.201 0.252 0.457 0.264 0.999 0.750 0.961 0.013 Concanavalin A-like lectin/glucanase domain ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10 Artery_Aorta|Brain_Caudate_basal_ganglia|Brain_Putamen_basal_ganglia|Nerve_Tibial 0.7080 0.5722 0.7282 0.7809 0.6190 0.6592 0.7434 0.7329 0.6787 0.6724 0.5679 0.7345 0.7848 0.6423 0.6759 0.7284 0.6916 het 921.89 72 1 86591837 . G A 921.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.841;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7012;MQ=59.74;MQ0=0;MQRankSum=-0.539;QD=12.80;ReadPosRankSum=-0.412;VQSLOD=6.3796;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,40:72:99:952,0,804 1 86818572 86818572 T C exonic ODF2L synonymous SNV ODF2L:NM_001184766:exon15:c.A1617G:p.E539E,ODF2L:NM_001184765:exon16:c.A1704G:p.E568E,ODF2L:NM_001007022:exon17:c.A1863G:p.E621E,ODF2L:NM_020729:exon17:c.A1815G:p.E605E 0.74 0.76 0.66 0.83 0.65 0.79 0.6915 0.7572 0.6304 0.8324 0.7032 0.6544 0.7164 0.7608 0.69 0.76 0.65 0.77 0.43 rs272496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6847 0.7531 0.6265 0.6670 0.8205 0.7057 0.6489 0.6869 0.7577 0.6986 0.7582 0.6376 0.6788 0.8243 0.7013 0.6551 0.6738 het 900.12 81 1 86818572 . T C 900.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.215;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9671;MQ=59.25;MQ0=0;MQRankSum=0.263;QD=11.11;ReadPosRankSum=-0.703;VQSLOD=5.7956;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,34:81:99:930,0,1134 1 86820267 86820267 C T exonic ODF2L synonymous SNV ODF2L:NM_001184766:exon14:c.G1467A:p.E489E,ODF2L:NM_001184765:exon15:c.G1554A:p.E518E,ODF2L:NM_001007022:exon16:c.G1713A:p.E571E,ODF2L:NM_020729:exon16:c.G1665A:p.E555E 0.75 0.78 0.67 0.83 0.66 0.8 0.7020 0.7764 0.6369 0.8313 0.7254 0.6625 0.7252 0.7815 0.7 0.77 0.66 0.79 0.58 rs1182098 COSM3747088;COSM3747089;COSM3747087 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6982 0.7741 0.6382 0.6814 0.8212 0.7270 0.6598 0.6988 0.7807 0.7134 0.7778 0.6483 0.6987 0.8251 0.7233 0.6666 0.6955 het 1133.77 92 1 86820267 . C T 1133.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.101;DP=92;Dels=0.00;FS=1.697;HRun=1;HaplotypeScore=0.9469;MQ=59.19;MQ0=0;MQRankSum=0.273;QD=12.32;ReadPosRankSum=-0.687;VQSLOD=6.8087;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,45:92:99:1164,0,1201 1 86838158 86838158 C T exonic ODF2L synonymous SNV ODF2L:NM_001007022:exon9:c.G876A:p.V292V,ODF2L:NM_001184765:exon9:c.G876A:p.V292V,ODF2L:NM_001184766:exon9:c.G876A:p.V292V,ODF2L:NM_020729:exon9:c.G876A:p.V292V 0.75 0.78 0.67 0.83 0.66 0.8 0.7161 0.7767 0.6507 0.8350 0.7340 0.6778 0.7275 0.7798 0.7 0.77 0.66 0.77 0.11 rs421105 COSM3747091;COSM3747090;COSM3747092 1(urinary_tract);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6697 0.7479 0.5792 0.6613 0.7960 0.7188 0.6328 0.6631 0.7578 0.7143 0.7786 0.6473 0.6987 0.8253 0.7235 0.6679 0.6977 het 133.29 26 1 86838158 . C T 133.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.639;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=57.57;MQ0=0;MQRankSum=1.583;QD=5.13;ReadPosRankSum=1.417;VQSLOD=4.5461;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,8:26:99:163,0,415 1 86852621 86852621 A G exonic ODF2L synonymous SNV ODF2L:NM_001007022:exon2:c.T90C:p.C30C,ODF2L:NM_001184765:exon2:c.T90C:p.C30C,ODF2L:NM_001184766:exon2:c.T90C:p.C30C,ODF2L:NM_020729:exon2:c.T90C:p.C30C 0.31 0.24 0.26 0.42 0.32 0.35 0.3304 0.2699 0.2941 0.4036 0.3266 0.3356 0.3260 0.3361 0.32 0.27 0.34 0.33 0.28 rs2390096 COSM3751425;COSM146551;COSM3751426 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3275 0.2598 0.2836 0.3032 0.3940 0.3321 0.3389 0.3290 0.3338 0.3291 0.2769 0.3101 0.2633 0.4187 0.3317 0.3526 0.3152 het 1811.27 150 1 86852621 . A G 1811.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.411;DP=150;Dels=0.00;FS=2.102;HRun=0;HaplotypeScore=7.6577;MQ=59.10;MQ0=0;MQRankSum=0.162;QD=12.08;ReadPosRankSum=-0.109;VQSLOD=4.1490;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,73:150:99:1841,0,1772 1 86900332 86900332 T C exonic CLCA2 synonymous SNV CLCA2:NM_006536:exon6:c.T876C:p.N292N 0.23 0.15 0.32 0.18 0.34 0.23 0.2978 0.1680 0.3596 0.1784 0.2756 0.3366 0.2797 0.2517 0.28 0.17 0.34 0.18 0.37 rs17449526 COSM3997687 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3019 0.1698 0.3583 0.3214 0.1849 0.2741 0.3388 0.3008 0.2523 0.2731 0.1747 0.3493 0.2980 0.1789 0.2772 0.3325 0.3086 het 3033.32 235 1 86900332 . T C 3033.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.928;DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8136;MQ=58.89;MQ0=0;MQRankSum=0.289;QD=12.91;ReadPosRankSum=-0.913;VQSLOD=6.1406;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:118,117:235:99:3063,0,3151 1 86900372 86900372 C G exonic CLCA2 nonsynonymous SNV CLCA2:NM_006536:exon6:c.C916G:p.Q306E 0.23 0.15 0.32 0.18 0.34 0.23 0.2977 0.1679 0.3594 0.1782 0.2757 0.3366 0.2786 0.2518 0.28 0.17 0.34 0.18 0.36 rs17409304 . . . . . . . . . . . . . 0.012 0.546 D 0.976 0.564 D 0.523 0.465 P 0.000 0.843 D 0.007 0.418 P 3.03 0.867 M 3.87 0.036 T -2.06 0.471 N 0.114 0.124 -1.097 0.044 T 0.018 0.076 T . . . 5.962 0.819 27.7 0.995 0.667 0.954 0.643 D c 0.688 0.697 0.995 0.338 0.516 0.203 0 5.21 0.719 4.375 0.591 0.935 0.490 0.998 0.411 0.682 0.305 16.064 0.806 . ENSG00000137975.7|ENSG00000122417.11|ENSG00000137975.7|ENSG00000137975.7|ENSG00000137975.7 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.3019 0.1697 0.3583 0.3213 0.1847 0.2740 0.3387 0.3008 0.2524 0.2732 0.1745 0.3508 0.2980 0.1778 0.2774 0.3328 0.3086 het 3046.29 224 1 86900372 . C G 3046.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.499;DP=224;Dels=0.00;FS=3.169;HRun=0;HaplotypeScore=7.6424;MQ=58.75;MQ0=0;MQRankSum=0.275;QD=13.60;ReadPosRankSum=0.497;VQSLOD=4.8692;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,114:224:99:3076,0,2815 1 86913265 86913265 C T exonic CLCA2 synonymous SNV CLCA2:NM_006536:exon11:c.C1788T:p.R596R 0.25 0.091 0.2 0.39 0.26 0.36 0.2790 0.1247 0.2558 0.3797 0.3006 0.2769 0.2874 0.3393 0.23 0.13 0.27 0.28 0.3 rs2275001 COSM3751427 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2828 0.1209 0.2523 0.2649 0.3789 0.3115 0.2791 0.2784 0.3419 0.2525 0.1276 0.2530 0.2384 0.3916 0.3108 0.2943 0.2933 het 2343.40 205 1 86913265 . C T 2343.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.501;DP=205;Dels=0.00;FS=9.348;HRun=0;HaplotypeScore=7.4567;MQ=59.16;MQ0=0;MQRankSum=1.191;QD=11.43;ReadPosRankSum=0.570;VQSLOD=3.4522;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,94:205:99:2373,0,2880 1 86920904 86920904 A G exonic CLCA2 synonymous SNV CLCA2:NM_006536:exon14:c.A2526G:p.Q842Q 0.33 0.21 0.24 0.44 0.34 0.43 0.3432 0.2466 0.2984 0.4193 0.3506 0.3371 0.3524 0.4165 0.3 0.25 0.33 0.38 0.33 rs2390057 COSM146552 1(stomach);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3441 0.2417 0.2963 0.3458 0.4234 0.3604 0.3370 0.3444 0.4162 0.3235 0.2470 0.3026 0.3477 0.4504 0.3632 0.3440 0.3503 het 1187.09 97 1 86920904 . A G 1187.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.286;DP=97;Dels=0.00;FS=1.628;HRun=0;HaplotypeScore=0.9832;MQ=59.38;MQ0=0;MQRankSum=-0.620;QD=12.24;ReadPosRankSum=-0.105;VQSLOD=6.4379;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,44:97:99:1217,0,1330 1 86939130 86939130 C T exonic CLCA1 nonsynonymous SNV CLCA1:NM_001285:exon2:c.C193T:p.L65F 0.88 0.67 0.93 0.99 0.95 0.95 0.9404 0.7262 0.9710 0.9873 0.8798 0.9647 0.9350 0.9551 0.88 0.73 0.96 0.9 0.97 rs2145412 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.182 P -3.57 0.000 N 3.16 0.077 T 5.64 0.000 N 0.049 0.278 -0.922 0.453 T 0.001 0.005 T . . . 0.874 0.177 9.915 0.158 0.004 0.013 0.046 N c -0.881 -0.560 0.008 0.115 0.487 0.133 0 5.56 0.836 2.518 0.450 0.154 0.240 0.999 0.424 0.992 0.562 6.799 0.228 . . . 0.9437 0.7210 0.9694 0.9615 0.9859 0.8825 0.9672 0.9473 0.9557 0.8879 0.7324 0.9582 0.9437 0.9852 0.8882 0.9601 0.9286 hom 2762.57 89 1 86939130 . C T 2762.57 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.42;MQ0=0;QD=31.04;VQSLOD=8.9178;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2796,226,0 1 86947975 86947975 A T exonic CLCA1 synonymous SNV CLCA1:NM_001285:exon5:c.A645T:p.V215V 0.37 0.24 0.29 0.51 0.37 0.44 0.3709 0.2626 0.3511 0.4740 0.4151 0.3566 0.4053 0.4373 0.32 0.25 0.35 0.43 0.32 rs1321694 COSM3747094 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3740 0.2586 0.3478 0.3992 0.4730 0.4232 0.3515 0.3887 0.4394 0.3478 0.2583 0.3729 0.38 0.5056 0.4321 0.3578 0.3990 het 654.75 72 1 86947975 . A T 654.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.053;DP=72;Dels=0.00;FS=0.949;HRun=1;HaplotypeScore=1.4725;MQ=58.81;MQ0=0;MQRankSum=0.497;QD=9.09;ReadPosRankSum=0.615;VQSLOD=6.4119;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,25:72:99:685,0,1238 1 86952324 86952324 A G exonic CLCA1 nonsynonymous SNV CLCA1:NM_001285:exon7:c.A1070G:p.N357S 0.89 0.94 0.91 0.85 0.83 0.89 0.8629 0.9339 0.9176 0.8719 0.8638 0.8334 0.8601 0.8939 0.87 0.93 0.84 0.89 0.81 rs2734705 COSM3747095 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.513 N 1.000 0.090 P -0.945 0.013 N 2.78 0.113 T 1.31 0.009 N 0.015 0.002 -0.912 0.466 T 0.003 0.009 T . . . 0.530 0.145 7.654 0.310 0.017 0.032 0.081 N c -0.724 -0.455 0.998 0.364 0.487 0.133 0 4.58 0.559 0.380 0.202 0.076 0.183 0.995 0.385 0.998 0.697 2.310 0.039 von Willebrand factor\x2c type A . . 0.8640 0.9374 0.9113 0.8605 0.8644 0.8615 0.8327 0.8521 0.8945 0.8678 0.9321 0.9045 0.8642 0.8606 0.8552 0.8328 0.8566 het 2114.05 166 1 86952324 . A G 2114.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.284;DP=166;Dels=0.00;FS=1.255;HRun=0;HaplotypeScore=3.2906;MQ=59.21;MQ0=0;MQRankSum=1.993;QD=12.74;ReadPosRankSum=-0.351;VQSLOD=6.0664;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,76:166:99:2144,0,2386 1 86959173 86959173 T C exonic CLCA1 nonsynonymous SNV CLCA1:NM_001285:exon10:c.T1571C:p.M524T 0.85 0.78 0.88 0.91 0.82 0.9 0.8419 0.7769 0.9019 0.9213 0.8529 0.8170 0.8458 0.8950 0.8 0.77 0.82 0.77 0.84 rs2791494 COSM3747096 1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.938 0.076 N 1 0.090 P -1.78 0.003 N 1.67 0.273 T 2.02 0.004 N 0.016 0.005 -0.952 0.407 T 0.006 0.019 T . . . -1.339 0.021 0.004 0.198 0.007 0.002 0.009 N c -1.478 -1.377 0.000 0.012 0.447 0.083 0 0.353 0.152 -1.569 0.022 -0.473 0.054 0.000 0.063 0.300 0.237 5.316 0.151 . . . 0.8456 0.7795 0.8961 0.8458 0.9145 0.8508 0.8145 0.8341 0.8955 0.8174 0.7742 0.8998 0.8709 0.9098 0.8496 0.8174 0.8459 het 1438.85 104 1 86959173 . T C 1438.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.319;DP=104;Dels=0.00;FS=1.572;HRun=0;HaplotypeScore=2.9230;MQ=59.33;MQ0=0;MQRankSum=0.686;QD=13.84;ReadPosRankSum=0.764;VQSLOD=6.5865;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,57:104:99:1469,0,1272 1 86961210 86961210 C T exonic CLCA1 synonymous SNV CLCA1:NM_001285:exon12:c.C1965T:p.D655D 0.019 0.0053 0.033 0.005 0.04 0.019 0.0258 0.0073 0.0214 0.0014 0.0133 0.0354 0.0254 0.0194 0.028 0.007 0.038 0.033 0.016 rs5744408 COSM3997689 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0262 0.0073 0.0218 0.0363 0.0015 0.0127 0.0371 0.0332 0.0199 0.0202 0.0088 0.0167 0.0132 0.0006 0.0103 0.0316 0.0184 het 1941.12 151 1 86961210 . C T 1941.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.612;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=0.423;QD=12.86;ReadPosRankSum=0.009;VQSLOD=6.3936;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,80:151:99:1971,0,1711 1 86965419 86965419 T C exonic CLCA1 synonymous SNV CLCA1:NM_001285:exon14:c.T2436C:p.T812T 0.35 0.28 0.23 0.54 0.26 0.43 0.2985 0.2720 0.2683 0.5561 0.2383 0.2558 0.3029 0.3975 0.26 0.27 0.26 0.33 0.3 rs1882753 COSM3751428 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2961 0.2644 0.2618 0.2384 0.5513 0.2473 0.2598 0.2667 0.3966 0.2884 0.2701 0.2721 0.2781 0.5582 0.2440 0.2803 0.3055 het 1484.81 125 1 86965419 . T C 1484.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.666;DP=125;Dels=0.00;FS=4.639;HRun=1;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=-1.686;QD=11.88;ReadPosRankSum=-1.824;VQSLOD=4.7472;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,58:125:99:1515,0,1804 1 89225976 89225976 T C exonic PKN2 synonymous SNV PKN2:NM_001320707:exon3:c.T421C:p.L141L,PKN2:NM_001320709:exon3:c.T421C:p.L141L,PKN2:NM_006256:exon3:c.T421C:p.L141L 0.75 0.93 0.58 0.65 0.66 0.83 0.6929 0.8941 0.6180 0.6425 0.7251 0.6497 0.7078 0.8134 0.72 0.89 0.64 0.81 0.6 rs430600 COSM3997691;COSM3997692 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6824 0.8963 0.6175 0.6744 0.6454 0.7266 0.6360 0.6746 0.8093 0.7159 0.8853 0.5993 0.6424 0.6416 0.7334 0.6305 0.6930 het 1551.27 130 1 89225976 . T C 1551.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.591;DP=130;Dels=0.00;FS=1.454;HRun=2;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;MQRankSum=0.826;QD=11.93;ReadPosRankSum=0.497;VQSLOD=6.3487;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,57:130:99:1581,0,1972 1 89271574 89271574 T C exonic PKN2 synonymous SNV PKN2:NM_001320707:exon11:c.T1533C:p.S511S,PKN2:NM_001320708:exon11:c.T1206C:p.S402S,PKN2:NM_001320709:exon12:c.T1629C:p.S543S,PKN2:NM_006256:exon12:c.T1677C:p.S559S 0.51 0.36 0.49 0.47 0.57 0.72 0.5640 0.3832 0.5147 0.4609 0.6298 0.5735 0.5911 0.6928 0.51 0.41 0.56 0.54 0.51 rs786906 COSM5438329 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5609 0.3775 0.5158 0.5971 0.4659 0.6327 0.5601 0.5832 0.6894 0.5101 0.3797 0.4916 0.5894 0.4701 0.6443 0.5524 0.6041 het 1334.51 104 1 89271574 . T C 1334.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.200;DP=104;Dels=0.00;FS=0.798;HRun=0;HaplotypeScore=4.8498;MQ=57.72;MQ0=0;MQRankSum=1.194;QD=12.83;ReadPosRankSum=-0.075;VQSLOD=4.9892;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,54:104:99:1365,0,1090 1 89322982 89322982 G A exonic GTF2B synonymous SNV GTF2B:NM_001514:exon6:c.C724T:p.L242L 0.99 0.95 1. 1. 1. 1. 0.9954 0.9492 0.9985 0.9999 1 1.0000 0.9978 0.9999 0.98 0.95 1. 0.97 0.98 rs2794318 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9484 0.9978 1 0.9999 1 0.9999 0.9987 0.9999 0.9851 0.9480 0.9964 1 1 1 0.9999 0.9969 hom 3021.12 92 1 89322982 . G A 3021.12 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.84;VQSLOD=13.8514;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3054,250,0 1 89426902 89426902 G A exonic KYAT3 synonymous SNV KYAT3:NM_001008662:exon7:c.C633T:p.S211S,KYAT3:NM_001008661:exon8:c.C735T:p.S245S,KYAT3:NM_001349447:exon8:c.C633T:p.S211S,KYAT3:NM_001349449:exon8:c.C243T:p.S81S,KYAT3:NM_001349448:exon9:c.C735T:p.S245S,KYAT3:NM_001349450:exon9:c.C243T:p.S81S 0.37 0.23 0.5 0.46 0.48 0.25 0.4373 0.2742 0.4878 0.4491 0.4486 0.4812 0.4492 0.3155 0.42 0.29 0.49 0.36 0.43 rs3738055 COSM146554 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4432 0.2699 0.4829 0.4031 0.4451 0.4472 0.4912 0.4554 0.3184 0.4272 0.2767 0.5120 0.4040 0.4208 0.4335 0.5088 0.4398 het 2268.10 173 1 89426902 . G A 2268.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.667;DP=173;Dels=0.00;FS=1.967;HRun=0;HaplotypeScore=1.8490;MQ=59.55;MQ0=0;MQRankSum=-0.851;QD=13.11;ReadPosRankSum=0.156;VQSLOD=6.6066;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,88:173:99:2298,0,2093 1 89474818 89474818 A G exonic GBP3 nonsynonymous SNV GBP3:NM_001319180:exon10:c.T1069C:p.C357R,GBP3:NM_001319181:exon10:c.T1390C:p.C464R,GBP3:NM_018284:exon10:c.T1471C:p.C491R,GBP3:NM_001319179:exon11:c.T1234C:p.C412R 0.26 0.26 0.26 0.21 0.32 0.25 0.2829 0.2630 0.2135 0.1990 0.2275 0.3200 0.2949 0.2595 0.3 0.26 0.32 0.27 0.25 rs17433780 COSM3751431 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.046 0.235 N 1 0.090 P -3.065 0.000 N 4.7 0.017 T 4.84 0.000 N 0.059 0.308 -1.046 0.154 T 0.000 0.001 T . . . -1.792 0.011 0.002 0.111 0.002 0.002 0.014 N c -1.809 -1.672 0.003 0.101 0.563 0.310 0 1.68 0.231 0.450 0.213 -0.305 0.080 0.023 0.197 0.000 0.016 5.974 0.185 Guanylate-binding protein\x2c C-terminal ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.2815 0.2646 0.2240 0.3662 0.2015 0.2361 0.3216 0.2974 0.2551 0.2789 0.2722 0.2560 0.4007 0.1950 0.2194 0.3043 0.2822 hom 2488.52 77 1 89474818 . A G 2488.52 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.11;MQ0=0;QD=32.32;VQSLOD=8.8035;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2522,202,0 1 89475135 89475135 C T exonic GBP3 nonsynonymous SNV GBP3:NM_001319180:exon9:c.G1003A:p.V335M,GBP3:NM_001319181:exon9:c.G1324A:p.V442M,GBP3:NM_018284:exon9:c.G1405A:p.V469M,GBP3:NM_001319179:exon10:c.G1168A:p.V390M 0.2 0.044 0.24 0.2 0.32 0.25 0.2641 0.0799 0.2060 0.1892 0.2269 0.3179 0.2881 0.2565 0.24 0.084 0.32 0.22 0.27 rs10493821 COSM3751432 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.267 0.162 T 0.073 0.248 B 0.119 0.310 B 0.787 0.067 N 1 0.090 P 1.22 0.307 L 4.25 0.026 T -1.26 0.318 N 0.069 0.327 -0.918 0.458 T 0.003 0.011 T . . . -0.084 0.086 1.855 0.815 0.133 0.043 0.098 N c -1.165 -1.247 0.011 0.122 0.615 0.372 0 -1.05 0.095 -0.763 0.048 -2.116 0.004 0.000 0.063 0.000 0.016 8.276 0.309 Guanylate-binding protein\x2c C-terminal ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.2678 0.0799 0.2160 0.3659 0.1925 0.2360 0.3211 0.2908 0.2544 0.2254 0.0871 0.2410 0.4007 0.1879 0.2198 0.3041 0.2688 hom 4910.28 178 1 89475135 . C T 4910.28 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8192;MQ=53.05;MQ0=0;QD=27.59;VQSLOD=3.8730;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:4909,379,0 1 89522646 89522646 G C exonic GBP1 nonsynonymous SNV GBP1:NM_002053:exon7:c.C1046G:p.T349S 0.72 0.8 0.61 0.56 0.77 0.8 0.7451 0.8073 0.5680 0.5705 0.7539 0.7794 0.7456 0.7790 0.79 0.81 0.78 0.62 0.77 rs1048425 COSM1344744 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.091 0.318 T 0.254 0.295 B 0.438 0.438 B 0.000 0.629 N 1.000 0.189 P 3.165 0.888 M 3.92 0.035 T -3.6 0.693 D 0.054 0.047 -1.185 0.003 T 0.020 0.084 T . . . 1.339 0.225 12.47 0.972 0.324 0.508 0.285 D c -0.131 -0.154 0.756 0.234 0.707 0.730 0 3.89 0.439 2.569 0.454 -0.400 0.062 0.624 0.277 0.507 0.272 12.960 0.577 Guanylate-binding protein\x2c C-terminal ENSG00000213512.1|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7 Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Thyroid 0.7390 0.8089 0.5795 0.7735 0.5793 0.7587 0.7841 0.7426 0.7776 0.7708 0.8019 0.5835 0.7815 0.5800 0.7506 0.7892 0.7541 hom 5354.60 158 1 89522646 . G C 5354.60 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9810;MQ=58.67;MQ0=0;QD=33.89;VQSLOD=8.9360;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:5354,418,0 1 89847372 89847372 G T exonic GBP6 nonsynonymous SNV GBP6:NM_001320257:exon5:c.G601T:p.A201S,GBP6:NM_198460:exon7:c.G991T:p.A331S 0.81 0.91 0.84 0.73 0.75 0.78 0.7769 0.8854 0.8667 0.7494 0.8140 0.7390 0.7896 0.7974 0.79 0.88 0.75 0.79 0.7 rs4658359 . . . . . . . . . . . . . 0.087 0.324 T 0.835 0.443 P 0.612 0.493 P 0.288 0.148 N 1 0.090 P 2.525 0.740 M 4.39 0.023 T -2.2 0.495 N 0.049 0.058 -0.897 0.483 T 0.005 0.015 T . . . 1.627 0.257 14.00 0.986 0.433 0.076 0.134 N c -0.373 -0.547 0.561 0.214 0.516 0.203 0 -0.023 0.132 -0.240 0.089 0.729 0.305 0.000 0.063 0.040 0.157 3.352 0.067 Guanylate-binding protein\x2c C-terminal ENSG00000171492.10|ENSG00000197147.8|ENSG00000197147.8 Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7791 0.8880 0.8575 0.7478 0.7445 0.8085 0.7378 0.7753 0.7974 0.7972 0.8770 0.8353 0.7417 0.7395 0.8131 0.7531 0.7841 het 1075.62 96 1 89847372 . G T 1075.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.783;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6264;MQ=58.79;MQ0=0;MQRankSum=0.898;QD=11.20;ReadPosRankSum=-1.349;VQSLOD=5.8619;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,41:96:99:1106,0,1512 1 89847411 89847411 C T exonic GBP6 nonsynonymous SNV GBP6:NM_001320257:exon5:c.C640T:p.L214F,GBP6:NM_198460:exon7:c.C1030T:p.L344F 0.81 0.91 0.84 0.73 0.75 0.78 0.7771 0.8855 0.8665 0.7501 0.8140 0.7394 0.7896 0.7975 0.79 0.88 0.75 0.71 0.7 rs4658360 COSM4144234 1(thyroid) . . . . . . . . . . . 0.272 0.159 T 0.01 0.144 B 0.025 0.193 B 0.790 0.094 N 1 0.090 P 0.99 0.251 L 4.31 0.024 T -1.36 0.338 N 0.009 0.004 -0.902 0.478 T 0.003 0.008 T . . . -2.187 0.006 0.001 0.426 0.031 0.011 0.040 N c -2.381 -2.494 1.000 0.747 0.549 0.223 0 -9.49 0.005 -2.821 0.008 -2.855 0.002 0.000 0.063 0.278 0.233 20.088 0.978 Guanylate-binding protein\x2c C-terminal ENSG00000171492.10|ENSG00000197147.8|ENSG00000197147.8 Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7792 0.8881 0.8575 0.7477 0.7443 0.8086 0.7381 0.7751 0.7975 0.7975 0.8769 0.8361 0.7417 0.7395 0.8139 0.7535 0.7847 het 1407.26 103 1 89847411 . C T 1407.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.592;DP=103;Dels=0.00;FS=3.654;HRun=1;HaplotypeScore=3.5220;MQ=59.19;MQ0=0;MQRankSum=-1.276;QD=13.66;ReadPosRankSum=-0.577;VQSLOD=5.3409;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,52:103:99:1437,0,1448 1 89847444 89847444 A G exonic GBP6 nonsynonymous SNV GBP6:NM_001320257:exon5:c.A673G:p.M225V,GBP6:NM_198460:exon7:c.A1063G:p.M355V 0.81 0.91 0.84 0.73 0.75 0.78 0.7771 0.8855 0.8665 0.7497 0.8137 0.7394 0.7914 0.7970 0.79 0.88 0.75 0.67 0.71 rs4658146 . . . . . . . . . . . . . 0.952 0.021 T 0.0 0.026 B 0.0 0.013 B 0.390 0.133 N 1 0.090 P -1.73 0.003 N 4.67 0.018 T 1.33 0.009 N 0.003 0.003 -1.015 0.254 T 0.000 0.001 T . . . -2.446 0.004 0.001 0.304 0.017 0.011 0.040 N c -2.256 -2.166 0.957 0.282 0.526 0.212 0 -4.25 0.035 -4.032 0.003 -3.538 0.001 0.000 0.063 0.008 0.104 3.178 0.061 Guanylate-binding protein\x2c C-terminal ENSG00000171492.10|ENSG00000197147.8|ENSG00000197147.8 Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7792 0.8881 0.8575 0.7478 0.7441 0.8086 0.7383 0.7752 0.7971 0.7974 0.8771 0.8361 0.7417 0.7392 0.8139 0.7533 0.7851 het 1478.86 123 1 89847444 . A G 1478.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.130;DP=123;Dels=0.00;FS=8.952;HRun=0;HaplotypeScore=4.8889;MQ=59.16;MQ0=0;MQRankSum=-0.461;QD=12.02;ReadPosRankSum=1.501;VQSLOD=4.3530;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,59:123:99:1509,0,1712 1 89849742 89849742 A T exonic GBP6 nonsynonymous SNV GBP6:NM_001320257:exon8:c.A1169T:p.D390V,GBP6:NM_198460:exon10:c.A1559T:p.D520V 0.86 0.92 0.92 0.73 0.89 0.85 0.8828 0.9083 0.9180 0.7505 0.9090 0.8900 0.9031 0.8706 0.9 0.91 0.89 0.84 0.86 rs959460 . . . . . . . . . . . . . 0.035 0.437 D 0.011 0.147 B 0.063 0.256 B 0.680 0.061 N 1 0.090 P 0.755 0.192 N 0.52 0.553 T -2.92 0.611 D 0.036 0.092 -1.036 0.187 T 0.054 0.227 T . . . 1.518 0.245 13.41 0.960 0.277 0.100 0.154 N c -0.678 -0.660 0.003 0.097 0.549 0.223 0 3.74 0.419 4.031 0.567 0.825 0.337 0.070 0.219 0.014 0.122 7.581 0.270 Guanylate-binding protein\x2c C-terminal ENSG00000225492.2|ENSG00000225492.2|ENSG00000225492.2|ENSG00000225492.2|ENSG00000225492.2|ENSG00000225492.2 Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Nerve_Tibial|Ovary|Thyroid|Uterus 0.8848 0.9093 0.9132 0.9301 0.7450 0.9056 0.8891 0.8976 0.8721 0.8903 0.9029 0.8974 0.9205 0.7420 0.9114 0.8929 0.8929 hom 2669.14 89 1 89849742 . A T 2669.14 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.37;MQ0=0;QD=29.99;VQSLOD=9.1653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2702,211,0 1 90049040 90049040 A G exonic LRRC8B synonymous SNV LRRC8B:NM_015350:exon5:c.A831G:p.P277P,LRRC8B:NM_001134476:exon7:c.A831G:p.P277P 0.16 0.034 0.12 0.17 0.21 0.3 0.2344 0.0711 0.1089 0.1986 0.2851 0.2551 0.2511 0.3393 0.2 0.077 0.26 0.15 0.24 rs36084789 COSM3751443 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2313 0.0687 0.1031 0.3142 0.1960 0.2922 0.2491 0.2426 0.3355 0.1999 0.0681 0.1205 0.3212 0.2058 0.3022 0.2489 0.2790 hom 4704.61 159 1 90049040 . A G 4704.61 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6653;MQ=59.57;MQ0=0;QD=29.59;VQSLOD=7.8977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4704,391,0 1 90178743 90178743 A G exonic LRRC8C nonsynonymous SNV LRRC8C:NM_032270:exon3:c.A614G:p.D205G 0.99 0.95 0.99 1. 1. 1. 0.9952 0.9487 0.9971 1 1 0.9999 0.9978 0.9999 0.98 0.95 1. 0.99 1. rs474536 . . . . . . . . . . . . . 0.536 0.069 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.186 P -1.245 0.008 N 1.88 0.239 T 0.18 0.050 N 0.058 0.298 -0.990 0.326 T 0.007 0.025 T . . . 1.673 0.262 14.26 0.899 0.187 0.294 0.236 N c -0.613 -0.299 0.998 0.360 0.722 0.854 0 4.84 0.620 3.339 0.516 0.138 0.222 1.000 0.715 0.999 0.750 14.015 0.639 LRRC8\x2c pannexin-like TM region . . 0.9962 0.9474 0.9969 1 1 1 0.9999 0.9976 0.9999 0.9871 0.9545 0.9988 1 1 1 0.9999 0.9990 hom 2915.54 92 1 90178743 . A G 2915.54 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.42;MQ0=0;QD=31.69;VQSLOD=8.8220;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2949,226,0 1 90486412 90486412 T G exonic ZNF326 synonymous SNV ZNF326:NM_181781:exon8:c.T618G:p.V206V,ZNF326:NM_001320185:exon10:c.T969G:p.V323V,ZNF326:NM_182976:exon10:c.T1236G:p.V412V 0.69 0.66 0.72 0.89 0.57 0.63 0.6211 0.6512 0.7656 0.9027 0.6178 0.5614 0.6278 0.5954 0.59 0.66 0.56 0.64 0.59 rs2816881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6290 0.6565 0.7563 0.5745 0.9007 0.6132 0.5628 0.6183 0.5947 0.6197 0.6596 0.7326 0.6060 0.8847 0.6218 0.5611 0.6232 hom 2835.85 85 1 90486412 . T G 2835.85 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.41;MQ0=0;QD=33.36;VQSLOD=9.6530;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2869,226,0 1 91404256 91404256 C A exonic ZNF644 nonsynonymous SNV ZNF644:NM_201269:exon3:c.G2655T:p.E885D 0.01 0.0008 0.017 . 0.033 0.0051 0.0222 0.0061 0.0058 0 0.0463 0.0327 0.0221 0.0033 0.023 0.0077 0.031 0.011 . rs41286761 . . . . . . . . . . . . . 0.121 0.277 T 0.0 0.026 B 0.001 0.040 B 0.000 0.523 N 0.878 0.810 D 0.625 0.159 N 6.29 0.006 T -0.41 0.140 N 0.049 0.030 -0.885 0.494 T 0.001 0.002 T . . . 1.137 0.203 11.41 0.959 0.274 0.335 0.246 N c -0.779 -0.666 0.330 0.195 0.732 0.924 0 0.468 0.159 -0.539 0.062 0.115 0.208 0.585 0.274 1.000 0.888 1.121 0.016 . . . 0.0223 0.0048 0.0068 0.0179 0 0.0490 0.0334 0.0191 0.0031 0.0237 0.0055 0.0144 0.0166 0 0.0464 0.0322 0.0234 het 792.89 66 1 91404256 . C A 792.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.842;DP=66;Dels=0.00;FS=0.954;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;MQRankSum=0.712;QD=12.01;ReadPosRankSum=0.853;VQSLOD=6.2202;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,32:66:99:823,0,839 1 91728053 91728053 G A exonic HFM1 synonymous SNV HFM1:NM_001017975:exon37:c.C4071T:p.A1357A 1. 1. 1. 1. 1. 1. 0.9997 0.9968 0.9998 1 1 1.0000 1 1 1. 1. 1. 1. 0.98 rs585898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9966 0.9998 1 1 1 1.0000 1 1 0.9987 0.9954 1 1 1 1 1 1 hom 3880.83 127 1 91728053 . G A 3880.83 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=58.07;MQ0=0;QD=30.56;VQSLOD=8.0246;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3881,295,0 1 91781413 91781413 T G exonic HFM1 synonymous SNV HFM1:NM_001017975:exon28:c.A3099C:p.I1033I 0.76 0.75 0.72 0.82 0.69 0.82 0.7059 0.7463 0.6921 0.8425 0.6978 0.6616 0.7251 0.7990 0.69 0.73 0.67 0.73 0.53 rs281992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7060 0.7447 0.6931 0.7816 0.8357 0.6934 0.6542 0.7141 0.7984 0.6920 0.7378 0.7105 0.8212 0.8246 0.6821 0.6500 0.6875 het 1395.94 99 1 91781413 . T G 1395.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.823;DP=99;Dels=0.00;FS=1.684;HRun=0;HaplotypeScore=0.0000;MQ=57.53;MQ0=1;MQRankSum=0.511;QD=14.10;ReadPosRankSum=-0.563;VQSLOD=4.8202;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,59:99:99:1426,0,1046 1 91782031 91782031 T C exonic HFM1 nonsynonymous SNV HFM1:NM_001017975:exon26:c.A2815G:p.I939V 0.12 0.12 0.16 0.005 0.23 0.12 0.1998 0.1340 0.1433 0.0017 0.2041 0.2624 0.1887 0.1297 0.22 0.14 0.26 0.14 0.18 rs11584478 COSM3747106 1(liver) . . . . . . . . . . . 0.812 0.030 T 0.001 0.139 B 0.007 0.154 B 0.004 0.347 N 0.933 0.270 P -0.845 0.015 N 0.22 0.599 T 0.27 0.043 N 0.01 0.021 -1.046 0.155 T 0.029 0.122 T . . . 0.386 0.131 6.488 0.692 0.086 0.683 0.335 D c -0.571 -0.385 0.000 0.012 0.554 0.246 0 1.31 0.207 2.628 0.459 0.964 0.580 1.000 0.715 1.000 0.888 6.864 0.231 Sec63 domain . . 0.2133 0.1422 0.1750 0.1755 0.0019 0.2123 0.2777 0.2315 0.1405 0.2027 0.1345 0.1638 0.1258 0.0031 0.2173 0.2633 0.2174 het 1515.68 117 1 91782031 . T C 1515.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.966;DP=117;Dels=0.00;FS=1.662;HRun=0;HaplotypeScore=3.3691;MQ=58.38;MQ0=0;MQRankSum=-0.358;QD=12.95;ReadPosRankSum=0.713;VQSLOD=5.6770;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,62:117:99:1546,0,1302 1 91784887 91784887 G A exonic HFM1 synonymous SNV HFM1:NM_001017975:exon24:c.C2643T:p.T881T 0.24 0.25 0.28 0.18 0.31 0.18 0.2951 0.2521 0.3082 0.1577 0.3019 0.3402 0.2759 0.2006 0.31 0.27 0.33 0.27 0.39 rs10493845 COSM146559 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2948 0.2519 0.3075 0.2393 0.1637 0.3063 0.3459 0.2878 0.2017 0.3070 0.2576 0.2895 0.1921 0.1743 0.3188 0.3504 0.3108 het 930.92 94 1 91784887 . G A 930.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.867;DP=94;Dels=0.00;FS=1.740;HRun=0;HaplotypeScore=3.7437;MQ=58.30;MQ0=0;MQRankSum=1.092;QD=9.90;ReadPosRankSum=-0.351;VQSLOD=5.6041;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,42:94:99:961,0,1208 1 91851253 91851253 T C exonic HFM1 synonymous SNV HFM1:NM_001017975:exon5:c.A633G:p.Q211Q 1. 1. 1. 1. 1. 1. 0.9997 0.9968 0.9998 1 1 1 1 1 1. 1. 1. 1. 0.9 rs282026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9965 0.9998 1 1 1 1 1 1.0000 0.9987 0.9955 1 1 1 1 1 1 hom 2250.44 74 1 91851253 . T C 2250.44 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7219;MQ=58.35;MQ0=0;QD=30.41;VQSLOD=7.7921;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2283,175,0 1 91859795 91859795 T C exonic HFM1 nonsynonymous SNV HFM1:NM_001017975:exon4:c.A349G:p.I117V 1. 1. 1. 1. 1. 1. 0.9997 0.9969 0.9998 1 1 1 1 1 1. 1. 1. 1. 0.97 rs282009 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.24 0.001 N 0.49 0.558 T 0.16 0.052 N 0.05 0.031 -0.972 0.367 T 0.015 0.058 T . . . -2.189 0.006 0.001 0.170 0.005 0.001 0.007 N c -1.539 -1.441 0.000 0.012 0.554 0.283 0 1.52 0.221 -0.084 0.111 0.039 0.154 0.000 0.063 0.304 0.238 6.966 0.236 . . . 0.9998 0.9967 0.9998 1 1 1 1 1 1 0.9987 0.9954 1 1 1 1 1 1 hom 2702.83 83 1 91859795 . T C 2702.83 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=32.56;VQSLOD=9.9187;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2736,208,0 1 91859801 91859801 A G exonic HFM1 nonsynonymous SNV HFM1:NM_001017975:exon4:c.T343C:p.S115P 0.14 0.16 0.16 0.005 0.24 0.12 0.2034 0.1703 0.1452 0.0017 0.2047 0.2632 0.1905 0.1288 0.23 0.18 0.26 0.15 0.23 rs11165778 COSM3747107 1(pancreas);1(liver) . . . . . . . . . . . 0.29 0.150 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.04 0.263 L 0.26 0.593 T -0.2 0.309 N 0.346 0.407 -1.053 0.137 T 0.038 0.162 T . . . -0.473 0.057 0.256 0.663 0.078 0.007 0.029 N c -1.347 -1.382 0.000 0.012 0.554 0.283 0 -2.82 0.054 -0.436 0.069 -0.185 0.104 0.000 0.063 0.237 0.225 9.867 0.401 . . . 0.1986 0.1737 0.1467 0.1593 0.0016 0.2103 0.2685 0.2103 0.1268 0.2155 0.1737 0.1663 0.1258 0.0031 0.2203 0.2659 0.2223 het 708.36 83 1 91859801 . A G 708.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.415;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-1.050;QD=8.53;ReadPosRankSum=-0.240;VQSLOD=5.6894;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,31:83:99:738,0,1413 1 91980447 91980447 A G exonic CDC7 synonymous SNV CDC7:NM_001134419:exon9:c.A990G:p.T330T,CDC7:NM_001134420:exon9:c.A990G:p.T330T,CDC7:NM_003503:exon9:c.A990G:p.T330T 0.77 0.78 0.78 0.76 0.79 0.72 0.7773 0.7855 0.8280 0.7572 0.7461 0.7779 0.7621 0.7584 0.78 0.77 0.78 0.85 0.8 rs483532 COSM3747108 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7796 0.7868 0.8214 0.8444 0.7569 0.7488 0.7760 0.7813 0.7574 0.7786 0.7848 0.8043 0.8676 0.7763 0.7466 0.7808 0.7577 hom 1985.41 72 1 91980447 . A G 1985.41 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=27.58;VQSLOD=8.3316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2018,165,0 1 92174260 92174260 A G exonic TGFBR3 synonymous SNV TGFBR3:NM_001195683:exon14:c.T2244C:p.T748T,TGFBR3:NM_003243:exon14:c.T2247C:p.T749T,TGFBR3:NM_001195684:exon15:c.T2244C:p.T748T 0.91 0.94 0.97 0.74 0.94 0.95 0.9337 0.9379 0.9710 0.7731 0.9716 0.9395 0.9361 0.9504 0.94 0.94 0.94 0.95 0.86 rs284878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9338 0.9380 0.9661 0.9040 0.7653 0.9708 0.9406 0.9433 0.9474 0.9356 0.9334 0.9582 0.9007 0.7531 0.9699 0.9472 0.9491 hom 4545.67 140 1 92174260 . A G 4545.67 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8857;MQ=59.67;MQ0=0;QD=32.47;VQSLOD=9.5462;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4545,352,0 1 92177938 92177938 A G exonic TGFBR3 synonymous SNV TGFBR3:NM_001195683:exon13:c.T2025C:p.F675F,TGFBR3:NM_003243:exon13:c.T2028C:p.F676F,TGFBR3:NM_001195684:exon14:c.T2025C:p.F675F 0.28 0.31 0.29 0.086 0.43 0.28 0.3660 0.3400 0.2796 0.1070 0.3618 0.4402 0.3234 0.2829 0.4 0.34 0.44 0.35 0.39 rs1805113 COSM3747109 1(breast);3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3604 0.3356 0.2868 0.3410 0.1045 0.3587 0.4463 0.3876 0.2880 0.3765 0.3425 0.2876 0.4040 0.0912 0.3693 0.4324 0.3910 het 2291.80 160 1 92177938 . A G 2291.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.355;DP=160;Dels=0.00;FS=11.356;HRun=2;HaplotypeScore=5.1173;MQ=59.62;MQ0=0;MQRankSum=-1.257;QD=14.32;ReadPosRankSum=0.718;VQSLOD=3.8540;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,89:160:99:2322,0,1863 1 92185657 92185657 C T exonic TGFBR3 synonymous SNV TGFBR3:NM_001195683:exon9:c.G1203A:p.P401P,TGFBR3:NM_003243:exon9:c.G1206A:p.P402P,TGFBR3:NM_001195684:exon10:c.G1203A:p.P401P 0.41 0.28 0.28 0.53 0.46 0.48 0.4177 0.3071 0.2673 0.5325 0.4836 0.4373 0.4207 0.4268 0.38 0.32 0.41 0.41 0.39 rs1805112 COSM3997703 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4139 0.3041 0.2682 0.4309 0.5458 0.4842 0.4308 0.4274 0.4339 0.4029 0.3062 0.3062 0.4272 0.5458 0.4860 0.4281 0.4192 hom 2723 81 1 92185657 . C T 2723 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2741;MQ=59.69;MQ0=0;QD=33.62;VQSLOD=7.7241;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,80:81:99:2756,223,0 1 92262874 92262874 T C exonic TGFBR3 synonymous SNV TGFBR3:NM_001195683:exon3:c.A216G:p.A72A,TGFBR3:NM_003243:exon3:c.A216G:p.A72A,TGFBR3:NM_001195684:exon4:c.A216G:p.A72A 0.72 0.78 0.72 0.77 0.63 0.66 0.6631 0.7551 0.6346 0.7921 0.6061 0.6386 0.6817 0.6782 0.68 0.75 0.64 0.67 0.63 rs2810904 COSM3751453 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6593 0.7556 0.6440 0.6309 0.7837 0.6039 0.6396 0.6473 0.6817 0.6616 0.7388 0.6730 0.5867 0.7667 0.5975 0.6226 0.6375 het 2541.92 208 1 92262874 . T C 2541.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.393;DP=208;DS;Dels=0.00;FS=1.100;HRun=2;HaplotypeScore=8.3955;MQ=59.31;MQ0=0;MQRankSum=0.204;QD=12.22;ReadPosRankSum=-0.585;VQSLOD=4.3846;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,101:208:99:2572,0,3071 1 92327045 92327045 G A exonic TGFBR3 nonsynonymous SNV TGFBR3:NM_001195683:exon2:c.C44T:p.S15F,TGFBR3:NM_003243:exon2:c.C44T:p.S15F,TGFBR3:NM_001195684:exon3:c.C44T:p.S15F 0.19 0.18 0.14 0.37 0.085 0.15 0.1308 0.1865 0.1201 0.4008 0.1152 0.0898 0.1322 0.1335 0.12 0.17 0.085 0.26 0.12 rs1805110 COSM146560 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.166 0.231 T 0.4 0.330 B 0.181 0.342 B 0.368 0.136 N 0.575 0.311 P 1.24 0.311 L 1.47 0.481 T -0.25 0.839 N 0.199 0.496 -1.065 0.105 T 0.027 0.116 T . . . 0.927 0.182 10.24 0.933 0.224 0.642 0.321 D c -0.354 -0.206 1.000 0.462 0.638 0.428 0 3.18 0.355 1.652 0.367 1.027 0.646 1.000 0.715 0.841 0.351 6.015 0.187 . . . 0.1307 0.1868 0.1257 0.1306 0.3976 0.1132 0.0862 0.1089 0.1363 0.1310 0.1777 0.1337 0.1258 0.3813 0.1105 0.0827 0.1130 het 1242.28 105 1 92327045 . G A 1242.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.334;DP=105;Dels=0.00;FS=0.775;HRun=1;HaplotypeScore=1.7883;MQ=59.60;MQ0=0;MQRankSum=0.978;QD=11.83;ReadPosRankSum=1.062;VQSLOD=6.5996;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,50:105:99:1272,0,1505 1 92428495 92428495 C A exonic BRDT nonsynonymous SNV BRDT:NM_001242806:exon2:c.C184A:p.Q62K,BRDT:NM_001242807:exon2:c.C184A:p.Q62K,BRDT:NM_001242808:exon2:c.C184A:p.Q62K,BRDT:NM_001726:exon2:c.C184A:p.Q62K,BRDT:NM_207189:exon2:c.C184A:p.Q62K,BRDT:NM_001242805:exon3:c.C184A:p.Q62K 0.76 0.66 0.84 0.61 0.92 0.81 0.8763 0.6939 0.8910 0.6033 0.9524 0.9374 0.8906 0.8452 0.86 0.7 0.94 0.79 0.88 rs10783071 COSM4417547 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.582 0.170 T 0.0 0.026 B 0.0 0.013 B 0.015 0.284 N 1 0.090 P 0.52 0.136 N 1.58 0.291 T 0.72 0.026 N 0.029 0.157 -0.952 0.407 T 0.013 0.050 T . . . 0.761 0.167 9.222 0.831 0.141 0.011 0.039 N c -1.025 -0.930 0.030 0.139 0.487 0.133 0 2.25 0.272 1.215 0.318 0.234 0.260 0.070 0.219 0.998 0.697 6.707 0.223 Bromodomain;Bromodomain|Bromodomain\x2c conserved site . . 0.8801 0.6912 0.8838 0.9320 0.5983 0.9542 0.9368 0.9047 0.8400 0.8523 0.6908 0.8687 0.9404 0.6009 0.9579 0.9425 0.9031 hom 3703.66 125 1 92428495 . C A 3703.66 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9117;MQ=58.91;MQ0=0;QD=29.63;VQSLOD=8.6791;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3703,280,0 1 92445257 92445257 C G exonic BRDT nonsynonymous SNV BRDT:NM_001242807:exon7:c.C1092G:p.N364K,BRDT:NM_001242808:exon7:c.C1092G:p.N364K,BRDT:NM_001242806:exon8:c.C1242G:p.N414K,BRDT:NM_001242810:exon8:c.C1011G:p.N337K,BRDT:NM_001726:exon8:c.C1230G:p.N410K,BRDT:NM_207189:exon8:c.C1230G:p.N410K,BRDT:NM_001242805:exon9:c.C1230G:p.N410K 0.13 0.024 0.24 0.028 0.22 0.21 0.2111 0.0512 0.2354 0.0220 0.2504 0.2511 0.2346 0.2154 0.18 0.059 0.25 0.11 0.33 rs3088232 COSM3751454 1(large_intestine) . . . . . . . . . . . 0.276 0.252 T 0.003 0.154 B 0.002 0.121 B 0.891 0.087 N 0.924 0.280 P 1.05 0.269 L 3.31 0.092 T -1.45 0.356 N 0.028 0.104 -0.935 0.434 T 0.007 0.024 T . . . 1.442 0.236 13.01 0.979 0.359 0.265 0.228 N c -0.604 -0.526 0.017 0.129 0.487 0.133 0 3.76 0.422 0.219 0.173 0.935 0.490 0.066 0.217 0.769 0.327 2.525 0.044 Bromodomain;Bromodomain|Bromodomain\x2c conserved site . . 0.2130 0.0463 0.2239 0.2526 0.0225 0.2539 0.2501 0.2199 0.2128 0.1823 0.0545 0.2339 0.2450 0.0228 0.2490 0.2512 0.2290 het 1384.66 118 1 92445257 . C G 1384.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.175;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5256;MQ=58.89;MQ0=0;MQRankSum=2.556;QD=11.73;ReadPosRankSum=-0.347;VQSLOD=3.5387;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,53:118:99:1415,0,1591 1 92457843 92457843 C T exonic BRDT nonsynonymous SNV BRDT:NM_001242807:exon13:c.C1949T:p.P650L,BRDT:NM_001242808:exon13:c.C1949T:p.P650L,BRDT:NM_001242806:exon14:c.C2099T:p.P700L,BRDT:NM_001242810:exon14:c.C1868T:p.P623L,BRDT:NM_001726:exon14:c.C2087T:p.P696L,BRDT:NM_207189:exon14:c.C2087T:p.P696L,BRDT:NM_001242805:exon15:c.C2087T:p.P696L 0.71 0.59 0.77 0.61 0.84 0.79 0.8166 0.6356 0.8512 0.6111 0.9006 0.8549 0.8300 0.8223 0.78 0.63 0.86 0.75 0.62 rs10747493 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.442 0.048 N 1 0.090 P -0.805 0.016 N 3.33 0.062 T -0.34 0.127 N 0.041 0.092 -0.913 0.465 T 0.003 0.008 T . . . -0.359 0.064 0.485 0.150 0.004 0.001 0.006 N c -1.444 -1.470 0.000 0.012 0.487 0.133 0 0.031 0.134 -0.926 0.041 -0.134 0.110 0.000 0.063 0.001 0.043 2.431 0.042 . ENSG00000154511.7|ENSG00000154511.7|ENSG00000067208.10|ENSG00000137948.14 Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial|Testis 0.8160 0.6087 0.8258 0.8812 0.5809 0.9027 0.8472 0.8258 0.8104 0.7847 0.6200 0.8130 0.9033 0.6055 0.9092 0.8644 0.8461 hom 1260.03 45 1 92457843 . C T 1260.03 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.18;MQ0=0;QD=28.00;VQSLOD=7.8211;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:96.30:1293,96,0 1 92979354 92979354 A G exonic EVI5 synonymous SNV EVI5:NM_005665:exon18:c.T2292C:p.G764G,EVI5:NM_001308248:exon19:c.T2325C:p.G775G,EVI5:NM_001350197:exon20:c.T2340C:p.G780G 0.92 0.95 0.89 0.98 0.81 0.96 0.8520 0.9295 0.9175 0.9633 0.7755 0.7973 0.8590 0.9501 0.84 0.92 0.79 0.88 0.79 rs6603979 COSM4144254;COSM4144255 1(thyroid) Benign not_specified RCV000454845.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8537 0.9283 0.9124 0.8817 0.9645 0.7773 0.7955 0.8398 0.9503 0.8528 0.9275 0.9067 0.9139 0.9654 0.7821 0.8104 0.8351 hom 4659.92 142 1 92979354 . A G 4659.92 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4972;MQ=59.15;MQ0=0;QD=32.82;VQSLOD=9.9159;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4660,361,0 1 93089823 93089823 T C exonic EVI5 synonymous SNV EVI5:NM_005665:exon14:c.A1689G:p.Q563Q,EVI5:NM_001308248:exon15:c.A1722G:p.Q574Q,EVI5:NM_001350197:exon16:c.A1737G:p.Q579Q,EVI5:NM_001350198:exon16:c.A1737G:p.Q579Q 0.95 0.96 0.94 0.98 0.9 0.97 0.9216 0.9452 0.9564 0.9635 0.8810 0.8988 0.9349 0.9679 0.91 0.94 0.9 0.95 0.91 rs7514716 . . Benign not_specified RCV000454596.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9236 0.9431 0.9550 0.9526 0.9647 0.8854 0.8982 0.9186 0.9681 0.9170 0.9435 0.9604 0.9702 0.9661 0.8840 0.9008 0.9122 hom 5389.96 159 1 93089823 . T C 5389.96 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=33.90;VQSLOD=9.8432;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5390,412,0 1 93160902 93160902 T C exonic EVI5 nonsynonymous SNV EVI5:NM_001308248:exon7:c.A1006G:p.I336V,EVI5:NM_001350197:exon7:c.A874G:p.I292V,EVI5:NM_001350198:exon7:c.A874G:p.I292V,EVI5:NM_005665:exon7:c.A1006G:p.I336V 0.95 0.95 0.95 0.98 0.91 0.97 0.9216 0.9438 0.9566 0.9634 0.8809 0.8991 0.9328 0.9676 0.91 0.94 0.9 0.95 0.91 rs2391199 . . Benign not_specified RCV000454998.1 MedGen CN169374 . . . . . . 0.606 0.055 T 0.0 0.026 B 0.003 0.112 B 0.023 0.265 N 0.012 0.407 P -0.115 0.046 N 2.01 0.213 T -0.09 0.084 N 0.039 0.061 -0.935 0.434 T 0.008 0.028 T . . . -0.025 0.091 2.353 0.796 0.124 0.211 0.211 N c -0.803 -0.645 0.001 0.084 0.707 0.730 0 2.3 0.276 -0.141 0.102 0.993 0.603 0.024 0.198 1.000 0.888 7.969 0.291 Rab-GTPase-TBC domain ENSG00000067208.10|ENSG00000067208.10|ENSG00000067208.10|ENSG00000067208.10 Artery_Tibial|Brain_Caudate_basal_ganglia|Esophagus_Mucosa|Whole_Blood 0.9237 0.9418 0.9550 0.9539 0.9648 0.8856 0.8985 0.9189 0.9680 0.9169 0.9421 0.9606 0.9735 0.9666 0.8838 0.9012 0.9143 hom 4414.82 144 1 93160902 . T C 4414.82 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7281;MQ=58.76;MQ0=0;QD=30.66;VQSLOD=8.7780;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4414,334,0 1 93580581 93580581 G C exonic MTF2 nonsynonymous SNV MTF2:NM_001164393:exon3:c.G113C:p.C38S,MTF2:NM_001164392:exon5:c.G419C:p.C140S,MTF2:NM_007358:exon5:c.G419C:p.C140S,MTF2:NM_001164391:exon6:c.G113C:p.C38S 1. 1. 1. 1. 1. 1. 0.9996 0.9957 0.9998 1 1 1 1 1 1. 1. 1. 1. 0.98 rs2815427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9958 0.9998 1 1 1 1.0000 1 1 0.9989 0.9962 0.9988 1 1 1 1 1 hom 2162.26 72 1 93580581 . G C 2162.26 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.04;MQ0=0;QD=30.03;VQSLOD=7.5584;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2195,166,0 1 93620393 93620393 G A exonic TMED5 nonsynonymous SNV TMED5:NM_016040:exon4:c.C524T:p.T175I 0.49 0.07 0.58 0.64 0.63 0.69 0.5864 0.1440 0.5008 0.6418 0.6370 0.6365 0.6035 0.6723 0.47 0.17 0.63 0.27 0.62 rs1060622 . . . . . . . . . . . . . 0.038 0.427 D 0.945 0.513 P 0.71 0.527 P 0.000 0.843 D 0.000 0.810 P . . . 2.36 0.161 T -3.11 0.636 D 0.156 0.186 -1.034 0.191 T 0.059 0.247 T . . . 4.001 0.538 23.6 0.999 0.945 0.988 0.875 D c 0.707 0.673 1.000 0.401 0.707 0.730 0 3.94 0.446 7.970 0.875 1.048 0.713 1.000 0.715 0.999 0.750 10.854 0.458 GOLD domain ENSG00000122483.13|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000122483.13|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000122483.13|ENSG00000154511.7|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000122483.13|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117500.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.5926 0.1356 0.5180 0.6586 0.6505 0.6425 0.6323 0.6058 0.6655 0.4854 0.1533 0.5310 0.6589 0.6458 0.6312 0.6145 0.5927 het 2034.41 204 1 93620393 . G A 2034.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.206;DP=204;Dels=0.00;FS=0.529;HRun=1;HaplotypeScore=0.7887;MQ=58.45;MQ0=0;MQRankSum=-0.698;QD=9.97;ReadPosRankSum=0.942;VQSLOD=5.5366;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,89:204:99:2064,0,2714 1 93672723 93672723 A C exonic CCDC18 nonsynonymous SNV CCDC18:NM_001306076:exon9:c.A977C:p.N326T,CCDC18:NM_206886:exon9:c.A977C:p.N326T 0.75 0.33 0.84 0.96 0.81 0.97 0.8245 0.3934 0.9028 0.9593 0.8515 0.8204 0.8374 0.9561 0.7 0.42 0.82 0.61 0.73 rs2815413 . . . . . . . . . . . . . 0.584 0.245 T 0.421 0.387 B 0.169 0.413 B 0.000 0.559 D 0.079 0.588 P 1.995 0.543 M 2.31 0.168 T -2.15 0.486 N 0.108 0.157 -1.032 0.197 T 0.021 0.089 T . . . 3.050 0.427 22.4 0.986 0.433 0.879 0.473 D c 0.002 0.086 0.637 0.220 0.707 0.730 0 4.58 0.559 1.766 0.379 1.199 0.960 1.000 0.715 1.000 0.888 8.460 0.319 . ENSG00000122483.13|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000229635.1|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000229635.1|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000122483.13|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117500.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.8333 0.3833 0.9020 0.8023 0.9623 0.8476 0.8214 0.8249 0.9543 0.7055 0.3887 0.8861 0.8046 0.9506 0.8432 0.8123 0.8128 het 496.35 42 1 93672723 . A C 496.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.834;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=-0.480;QD=11.82;ReadPosRankSum=1.314;VQSLOD=5.6902;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,23:42:99:526,0,477 1 94341267 94341267 A G exonic DNTTIP2 synonymous SNV DNTTIP2:NM_014597:exon3:c.T1740C:p.F580F 0.53 0.54 0.43 0.62 0.42 0.62 0.4754 0.5286 0.4806 0.6274 0.4044 0.4266 0.4676 0.5859 0.46 0.51 0.43 0.52 . rs2273165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4696 0.5300 0.4763 0.4260 0.6209 0.3930 0.4257 0.4510 0.5793 0.4556 0.5313 0.4880 0.38 0.5932 0.3718 0.4155 0.4613 het 773.42 53 1 94341267 . A G 773.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.321;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.13;MQ0=0;MQRankSum=-1.624;QD=14.59;ReadPosRankSum=-2.102;VQSLOD=5.0974;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,28:53:99:803,0,639 1 94342564 94342564 C A exonic DNTTIP2 nonsynonymous SNV DNTTIP2:NM_014597:exon2:c.G927T:p.E309D 0.34 0.082 0.33 0.56 0.33 0.51 0.3538 0.1287 0.3852 0.5633 0.2898 0.3329 0.3492 0.4668 0.27 0.14 0.34 0.28 . rs3747965 COSM3997708 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.156 0.241 T 0.006 0.126 B 0.005 0.104 B 0.813 0.068 N 1 0.090 P 1.735 0.450 L 1.97 0.221 T -0.95 0.253 N 0.021 0.005 -0.977 0.357 T 0.018 0.077 T . . . 0.363 0.129 6.287 0.985 0.421 0.119 0.167 N c -1.071 -1.121 1.000 0.414 0.722 0.854 0 0.373 0.153 -1.697 0.020 0.022 0.145 0.000 0.063 0.795 0.335 4.542 0.114 . ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000260464.1|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Uterus|Vagina 0.3584 0.1232 0.3896 0.3453 0.5645 0.2868 0.3357 0.3461 0.4657 0.2789 0.1278 0.3882 0.3046 0.5360 0.2679 0.3309 0.3452 het 280.87 37 1 94342564 . C A 280.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.572;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9861;MQ=59.38;MQ0=0;MQRankSum=-1.047;QD=7.59;ReadPosRankSum=-1.180;VQSLOD=5.3210;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,11:37:99:311,0,685 1 94343023 94343023 A G exonic DNTTIP2 synonymous SNV DNTTIP2:NM_014597:exon2:c.T468C:p.P156P 0.44 0.38 0.37 0.56 0.35 0.53 0.3931 0.3861 0.4187 0.5730 0.3083 0.3532 0.375 0.4819 0.36 0.38 0.36 0.4 . rs2391322 COSM3997710 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3932 0.3915 0.4201 0.3525 0.5692 0.3042 0.356 0.3760 0.4811 0.3668 0.3947 0.4200 0.3079 0.5396 0.2880 0.3476 0.3814 het 1676.19 127 1 94343023 . A G 1676.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.972;DP=127;Dels=0.00;FS=0.817;HRun=2;HaplotypeScore=3.5403;MQ=59.23;MQ0=0;MQRankSum=0.109;QD=13.20;ReadPosRankSum=-0.581;VQSLOD=6.4330;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,61:127:99:1706,0,2045 1 94343233 94343233 T C exonic DNTTIP2 synonymous SNV DNTTIP2:NM_014597:exon2:c.A258G:p.E86E 0.76 0.81 0.81 0.79 0.66 0.73 0.7170 0.7926 0.8771 0.7785 0.6461 0.6823 0.7016 0.6970 0.73 0.79 0.7 0.76 . rs3789457 COSM3747119 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7212 0.7925 0.8726 0.6613 0.7754 0.6362 0.6873 0.7089 0.6962 0.7186 0.7935 0.8429 0.6126 0.7735 0.6231 0.6878 0.7004 het 1016.43 93 1 94343233 . T C 1016.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.090;DP=93;Dels=0.00;FS=8.693;HRun=0;HaplotypeScore=1.8675;MQ=59.35;MQ0=0;MQRankSum=-2.042;QD=10.93;ReadPosRankSum=-0.098;VQSLOD=3.7418;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,43:93:99:1046,0,1420 1 94471075 94471075 A G exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon44:c.T6069C:p.I2023I 0.77 0.37 0.9 0.9 0.94 0.91 0.8894 0.4474 0.9413 0.8885 0.9568 0.9363 0.9075 0.9142 0.78 0.47 0.93 0.72 0.9 rs1762114 COSM3997712 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign|Benign|Benign not_specified|Cone-Rod_Dystrophy\x2c_Recessive|Stargardt_Disease\x2c_Recessive|Macular_degeneration|Retinitis_Pigmentosa\x2c_Recessive RCV000178546.3|RCV000296912.1|RCV000300456.1|RCV000355311.1|RCV000404512.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen CN169374|CN239309|CN239312|HP:0000608:C0024437|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8995 0.4390 0.9373 0.8898 0.8855 0.9593 0.9379 0.9088 0.9143 0.8011 0.4595 0.9320 0.8907 0.8710 0.9674 0.9372 0.9061 hom 3816.09 124 1 94471075 . A G 3816.09 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.81;MQ0=0;QD=30.77;VQSLOD=8.3731;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3815,301,0 1 94473845 94473845 T C exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon42:c.A5844G:p.P1948P 0.17 0.26 0.16 0.12 0.14 0.11 0.1748 0.2397 0.1514 0.1311 0.1712 0.1854 0.1656 0.1327 0.2 0.23 0.18 0.15 0.2 rs2275029 COSM146561 1(stomach);1(liver) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Retinitis_Pigmentosa\x2c_Recessive|Cone-Rod_Dystrophy\x2c_Recessive|Stargardt_Disease\x2c_Recessive|Macular_degeneration RCV000152704.5|RCV000269749.1|RCV000324408.1|RCV000328383.1|RCV000382920.1 MedGen|MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen CN169374|CN239466|CN239309|CN239312|HP:0000608:C0024437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1725 0.2393 0.1550 0.2034 0.1255 0.1729 0.1832 0.1848 0.1335 0.1974 0.2305 0.1538 0.2086 0.1292 0.1856 0.1914 0.1840 het 736.58 80 1 94473845 . T C 736.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.518;DP=80;Dels=0.00;FS=3.094;HRun=2;HaplotypeScore=3.3963;MQ=59.71;MQ0=0;MQRankSum=-1.427;QD=9.21;ReadPosRankSum=0.723;VQSLOD=5.0363;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,33:80:99:767,0,1231 1 94474328 94474328 T C exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon41:c.A5814G:p.L1938L 0.19 0.27 0.23 0.12 0.19 0.12 0.1886 0.2425 0.2430 0.1311 0.1739 0.1930 0.1762 0.1354 0.21 0.24 0.19 0.18 0.21 rs4147857 COSM146562 1(stomach) not provided|Benign|Likely benign|Likely benign|Likely benign|Likely benign not_provided|not_specified|Retinitis_Pigmentosa\x2c_Recessive|Macular_degeneration|Cone-Rod_Dystrophy\x2c_Recessive|Stargardt_Disease\x2c_Recessive RCV000085761.3|RCV000211879.2|RCV000309928.1|RCV000349633.1|RCV000364498.1|RCV000402778.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen CN221809|CN169374|CN239466|HP:0000608:C0024437|CN239309|CN239312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1894 0.2408 0.2433 0.2060 0.1259 0.1758 0.1914 0.1994 0.1361 0.2040 0.2342 0.2225 0.2086 0.1270 0.1890 0.1979 0.1939 het 3224.03 231 1 94474328 . T C 3224.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.494;DP=231;DS;Dels=0.00;FS=1.600;HRun=0;HaplotypeScore=6.2730;MQ=58.81;MQ0=0;MQRankSum=2.104;QD=13.96;ReadPosRankSum=-1.488;VQSLOD=4.2421;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,117:231:99:3254,0,3076 1 94476388 94476388 C G exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon40:c.G5682C:p.L1894L 0.2 0.27 0.21 0.12 0.25 0.13 0.2197 0.2500 0.1758 0.1309 0.2147 0.2515 0.2078 0.1517 0.25 0.24 0.25 0.17 0.25 rs1801574 COSM146563 1(stomach);1(liver) not provided|Benign|Likely benign|Likely benign|Likely benign|Likely benign not_provided|not_specified|Stargardt_Disease\x2c_Recessive|Cone-Rod_Dystrophy\x2c_Recessive|Retinitis_Pigmentosa\x2c_Recessive|Macular_degeneration RCV000085750.3|RCV000178425.2|RCV000263057.1|RCV000318478.1|RCV000321911.1|RCV000376557.1 MedGen|MedGen|MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen CN221809|CN169374|CN239312|CN239309|CN239466|HP:0000608:C0024437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2154 0.2485 0.1782 0.2397 0.1257 0.2129 0.2509 0.2327 0.1520 0.2367 0.2425 0.1806 0.2318 0.1279 0.2265 0.2516 0.2224 het 1148.24 75 1 94476388 . C G 1148.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.684;DP=75;Dels=0.00;FS=1.949;HRun=1;HaplotypeScore=4.9717;MQ=58.94;MQ0=0;MQRankSum=-0.806;QD=15.31;ReadPosRankSum=-0.699;VQSLOD=4.2987;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,42:75:99:1178,0,885 1 94517254 94517254 C G exonic ABCA4 nonsynonymous SNV ABCA4:NM_000350:exon17:c.G2588C:p.G863A 0.0012 0.0008 . . 0.003 0.002 0.0051 0.0016 0.0010 0 0.0014 0.0081 0.0023 0.0022 0.0052 0.0023 0.0067 . 0.016 rs76157638 COSM328066 1(pancreas) Pathogenic|other|Pathogenic|Pathogenic|Pathogenic|Pathogenic|Uncertain significance|Uncertain significance Stargardt_disease_1|Cone-rod_dystrophy_3|not_provided|Stargardt_disease_1|Stargardt_disease_1|Stargardt_disease_1|Abnormality_of_the_macula|Peripheral_neuropathy RCV000008328.5|RCV000008329.3|RCV000085494.2|RCV000197749.1|RCV000408474.1|RCV000408579.1|RCV000415097.1|RCV000415097.1 MedGen:OMIM|MedGen:OMIM|MedGen|MedGen:OMIM|MedGen:OMIM|MedGen:OMIM|Human_Phenotype_Ontology:MedGen|Human_Phenotype_Ontology:MedGen C1855465:248200|C1858806:604116|CN221809|C1855465:248200|C1855465:248200|C1855465:248200|HP:0001103:C0730362|HP:0009830:C0442874 . . . . . . 0.002 0.721 D 0.795 0.455 P 0.466 0.448 P 0.000 0.629 D 0.995 0.588 A 3.175 0.890 M -1.04 0.766 T -5.66 0.870 D 0.829 0.838 0.063 0.835 D 0.437 0.777 T . . . 5.667 0.773 26.7 0.997 0.819 0.988 0.876 D c 0.584 0.586 1.000 0.747 0.497 0.185 0 4.9 0.635 7.041 0.761 0.935 0.490 1.000 0.715 0.959 0.439 15.279 0.734 . . . 0.0044 0.0013 0.0011 0.0022 0 0.0011 0.0081 0.0031 0.0020 0.0036 0.0013 0.0036 0 0 0.0014 0.0060 0.0041 het 1168.40 93 1 94517254 . C G 1168.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.769;DP=93;Dels=0.00;FS=2.910;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;MQRankSum=2.089;QD=12.56;ReadPosRankSum=-0.394;VQSLOD=5.1981;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,46:93:99:1198,0,1193 1 94578548 94578548 T C exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon2:c.A141G:p.P47P 0.99 0.95 1. 1. 1. 1. 0.9964 0.9603 0.9984 1 1 0.9999 0.9989 0.9998 0.99 0.96 1. 1. 1. rs4847281 . . not provided\x2cBenign not_provided\x2cnot_specified RCV000085396.1\x2cRCV000152712.2 MedGen\x2cMedGen CN221809\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9972 0.9597 0.9983 1 0.9999 1 0.9999 0.9995 0.9998 0.9890 0.9619 0.9976 1 1 1 0.9998 0.9969 hom 5302.98 185 1 94578548 . T C 5302.98 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9940;MQ=59.55;MQ0=0;QD=28.66;VQSLOD=8.3173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:5302,409,0 1 94639447 94639447 C T exonic ARHGAP29 nonsynonymous SNV ARHGAP29:NM_001328665:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328667:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328664:exon23:c.G3764A:p.G1255D,ARHGAP29:NM_001328666:exon23:c.G3737A:p.G1246D,ARHGAP29:NM_004815:exon23:c.G3764A:p.G1255D 0.94 0.8 0.98 1. 1. 1. 0.9849 0.8344 0.9941 1 1 0.9996 0.9978 0.9998 0.94 0.84 1. 0.92 0.99 rs1999272 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.397 N 1.000 0.197 P -2.33 0.001 N 2.18 0.189 T 0.46 0.031 N 0.076 0.067 -0.947 0.416 T 0.005 0.017 T . . . 1.555 0.249 13.60 0.147 0.003 0.078 0.137 N c -0.712 -0.422 0.999 0.374 0.672 0.522 0 4.69 0.584 1.983 0.400 0.119 0.209 1.000 0.715 0.999 0.750 7.524 0.266 . . . 0.9882 0.8315 0.9931 1 1 1.0000 0.9997 0.9961 0.9997 0.9559 0.8460 0.9976 1 1 1 0.9994 0.9888 hom 6604.64 211 1 94639447 . C T 6604.64 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1357;MQ=59.66;MQ0=0;QD=31.30;VQSLOD=7.1211;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:6604,533,0 1 94643531 94643531 T C exonic ARHGAP29 synonymous SNV ARHGAP29:NM_001328665:exon20:c.A2481G:p.Q827Q,ARHGAP29:NM_001328667:exon20:c.A2481G:p.Q827Q,ARHGAP29:NM_001328664:exon21:c.A2673G:p.Q891Q,ARHGAP29:NM_001328666:exon21:c.A2646G:p.Q882Q,ARHGAP29:NM_004815:exon21:c.A2673G:p.Q891Q 0.14 0.032 0.21 0.002 0.3 0.2 0.2181 0.0639 0.2214 0.0027 0.2470 0.2731 0.2269 0.1916 0.2 0.069 0.26 0.11 0.21 rs1048854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2202 0.0582 0.2120 0.2710 0.0027 0.2480 0.2734 0.2618 0.1947 0.1917 0.0639 0.1950 0.2848 0.0006 0.2457 0.2685 0.2469 hom 4134.40 123 1 94643531 . T C 4134.40 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.25;MQ0=0;QD=33.61;VQSLOD=9.8168;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4134,316,0 1 94930345 94930345 G A exonic ABCD3 synonymous SNV ABCD3:NM_001122674:exon3:c.G162A:p.K54K,ABCD3:NM_002858:exon3:c.G162A:p.K54K 0.28 0.1 0.39 0.2 0.5 0.3 0.3923 0.1476 0.3755 0.2093 0.3603 0.4691 0.4075 0.3562 0.37 0.16 0.48 0.36 0.31 rs16946 COSM3751462;COSM3751463 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000242700.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3975 0.1438 0.3752 0.4510 0.2084 0.3639 0.4768 0.4489 0.3649 0.3488 0.1575 0.3753 0.4233 0.2076 0.3586 0.4651 0.4261 hom 2991.61 96 1 94930345 . G A 2991.61 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;QD=31.16;VQSLOD=9.4031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3025,232,0 1 95001600 95001600 A C exonic F3 synonymous SNV F3:NM_001178096:exon3:c.T333G:p.P111P,F3:NM_001993:exon3:c.T333G:p.P111P 0.98 0.94 1. 1. 1. 1. 0.9950 0.9435 0.9982 1 1 1.0000 0.9989 1 0.98 0.95 1. 0.98 1. rs698946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9963 0.9462 0.9979 1 1 1 0.9999 0.9985 0.9999 0.9867 0.9532 0.9988 1 1 1 1 0.9969 hom 8257.28 250 1 95001600 . A C 8257.28 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.2931;MQ=59.48;MQ0=0;QD=33.03;VQSLOD=9.9574;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8256,677,0 1 95330372 95330372 G A exonic SLC44A3 nonsynonymous SNV SLC44A3:NM_001258342:exon10:c.G1204A:p.V402I,SLC44A3:NM_001258343:exon10:c.G1108A:p.V370I,SLC44A3:NM_001301079:exon10:c.G1072A:p.V358I,SLC44A3:NM_001350223:exon10:c.G1021A:p.V341I,SLC44A3:NM_152369:exon10:c.G1168A:p.V390I,SLC44A3:NM_001114106:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258340:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258341:exon11:c.G1216A:p.V406I 0.75 0.48 0.81 0.98 0.78 0.81 0.7701 0.5396 0.8824 0.9812 0.8011 0.7562 0.7544 0.7709 0.68 0.55 0.75 0.7 0.68 rs859098 COSM4165352;COSM4165351 1(kidney);1(pancreas) . . . . . . . . . . . 0.065 0.375 T 0.312 0.449 B 0.056 0.416 B 0.027 0.258 N 1 0.090 P 1.87 0.498 L 2.26 0.176 T -0.64 0.193 N 0.047 0.039 -1.103 0.037 T 0.030 0.128 T . . . 1.894 0.288 15.55 0.988 0.453 0.821 0.411 D c -0.054 -0.029 1.000 0.747 0.653 0.482 0 5.63 0.861 4.195 0.580 0.135 0.219 0.997 0.399 0.002 0.062 13.912 0.632 . ENSG00000235565.1|ENSG00000224081.3|ENSG00000235565.1|ENSG00000224081.3|ENSG00000143036.12|ENSG00000237416.2 Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Thyroid 0.7807 0.5357 0.8822 0.7140 0.9807 0.8042 0.7566 0.7692 0.7736 0.7141 0.5358 0.8604 0.6921 0.9815 0.8057 0.7559 0.7735 hom 7809.05 243 1 95330372 . G A 7809.05 Mask AC=2;AF=1.00;AN=2;DP=243;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8907;MQ=59.48;MQ0=0;QD=32.14;VQSLOD=9.5358;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:243:99:7808,620,0 1 95709821 95709821 T C exonic RWDD3 nonsynonymous SNV RWDD3:NM_001128142:exon2:c.T140C:p.V47A,RWDD3:NM_001199682:exon2:c.T140C:p.V47A,RWDD3:NM_015485:exon2:c.T140C:p.V47A,RWDD3:NM_001278247:exon3:c.T95C:p.V32A,RWDD3:NM_001278248:exon3:c.T95C:p.V32A 0.98 0.94 1. 1. 1. 1. 0.9955 0.9508 0.9980 1 1 0.9996 0.9978 0.9998 0.99 0.96 1. 0.95 1. rs259358 . . . . . . . . . . . . . 0.452 0.089 T 0.0 0.067 B 0.001 0.063 B 0.507 0.051 N 1 0.090 P -0.22 0.040 N 2.03 0.210 T 0.62 0.030 N 0.005 0.065 -0.978 0.354 T 0.004 0.012 T . . . -2.916 0.001 0.001 0.433 0.032 0.009 0.034 N c -1.984 -1.995 0.997 0.353 0.719 0.830 0 -9.18 0.006 -0.491 0.065 -1.934 0.005 0.019 0.194 0.001 0.043 7.487 0.264 RWD domain|Ubiquitin-conjugating enzyme/RWD-like . . 0.9962 0.9513 0.9971 0.9999 1 1 0.9995 0.9953 0.9999 0.9862 0.9518 0.9976 1 1 1 0.9999 0.9969 hom 3415.54 110 1 95709821 . T C 3415.54 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.18;MQ0=0;QD=31.05;VQSLOD=9.7070;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3415,274,0 1 95709939 95709939 T G exonic RWDD3 nonsynonymous SNV RWDD3:NM_001128142:exon2:c.T258G:p.N86K,RWDD3:NM_001199682:exon2:c.T258G:p.N86K,RWDD3:NM_015485:exon2:c.T258G:p.N86K,RWDD3:NM_001278247:exon3:c.T213G:p.N71K,RWDD3:NM_001278248:exon3:c.T213G:p.N71K 0.82 0.68 0.85 0.8 0.87 0.93 0.8548 0.7089 0.8351 0.7729 0.8792 0.8646 0.8956 0.9466 0.82 0.72 0.87 0.75 0.8 rs2296308 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1 0.090 P -2.615 0.000 N 2.14 0.194 T 1.42 0.011 N 0.027 0.012 -0.999 0.302 T 0.002 0.007 T . . . -2.542 0.003 0.001 0.491 0.041 0.035 0.086 N c -2.181 -2.001 0.040 0.144 0.719 0.830 0 -1.54 0.081 -0.117 0.106 -1.394 0.012 0.731 0.287 0.075 0.178 9.064 0.354 RWD domain|Ubiquitin-conjugating enzyme/RWD-like ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000226026.1|ENSG00000122481.12|ENSG00000228852.2|ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000226026.1|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000226026.1|ENSG00000228852.2|ENSG00000226026.1|ENSG00000122481.12|ENSG00000228852.2|ENSG00000226026.1 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.8555 0.7046 0.8272 0.8707 0.7750 0.8760 0.8660 0.8679 0.9462 0.8209 0.7189 0.8401 0.8907 0.7618 0.8706 0.8696 0.8615 hom 3972.74 116 1 95709939 . T G 3972.74 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;QD=34.25;VQSLOD=9.7692;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3972,313,0 1 97272456 97272456 A G exonic PTBP2 synonymous SNV PTBP2:NM_001300990:exon10:c.A957G:p.L319L,PTBP2:NM_001300985:exon11:c.A1128G:p.L376L,PTBP2:NM_001300986:exon11:c.A1137G:p.L379L,PTBP2:NM_001300988:exon11:c.A1128G:p.L376L,PTBP2:NM_001300989:exon11:c.A1113G:p.L371L,PTBP2:NM_021190:exon11:c.A1113G:p.L371L,PTBP2:NM_001300987:exon12:c.A1161G:p.L387L 0.28 0.54 0.15 0.21 0.21 0.15 0.2123 0.5025 0.1368 0.2116 0.1947 0.1949 0.2026 0.1610 0.29 0.5 0.19 0.24 0.2 rs6699932 COSM3747120 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.202 0.5012 0.1426 0.2292 0.2103 0.2016 0.1873 0.1992 0.1580 0.2786 0.4998 0.1603 0.2715 0.1984 0.1934 0.1892 0.2204 het 1149.29 119 1 97272456 . A G 1149.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.192;DP=119;Dels=0.00;FS=0.683;HRun=0;HaplotypeScore=2.4720;MQ=58.22;MQ0=0;MQRankSum=1.546;QD=9.66;ReadPosRankSum=0.201;VQSLOD=5.6784;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,52:119:99:1179,0,1599 1 97981395 97981395 T C exonic DPYD nonsynonymous SNV DPYD:NM_000110:exon13:c.A1627G:p.I543V 0.18 0.15 0.27 0.27 0.19 0.083 0.1930 0.1574 0.3116 0.2515 0.1655 0.1978 0.1803 0.0951 0.18 0.16 0.2 0.17 0.19 rs1801159 COSM3747121 1(liver);1(large_intestine) not provided|Benign|Likely benign not_provided|not_specified|Dihydropyrimidine_dehydrogenase_deficiency RCV000086475.1|RCV000174446.2|RCV000389596.1 MedGen|MedGen|MedGen:OMIM CN221809|CN169374|C2720286:274270 . . . . . . 0.111 0.290 T 0.0 0.026 B 0.0 0.013 B 0.007 0.314 N 1.000 0.197 P 0.49 0.133 N -0.8 0.739 T 0.73 0.021 N 0.023 0.006 -1.011 0.266 T 0.053 0.225 T . . . 0.829 0.173 9.639 0.960 0.278 0.809 0.401 D c -1.000 -0.919 0.007 0.115 0.693 0.558 0 -3.13 0.049 1.397 0.339 -0.169 0.106 0.994 0.380 0.975 0.474 9.702 0.392 Aldolase-type TIM barrel|Dihydroorotate dehydrogenase domain . . 0.1968 0.1569 0.2974 0.2034 0.2528 0.1680 0.1970 0.1945 0.0944 0.1754 0.1552 0.2608 0.21 0.2427 0.1556 0.1802 0.1612 het 1035.15 60 1 97981395 . T C 1035.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.411;DP=60;Dels=0.00;FS=1.095;HRun=0;HaplotypeScore=0.9867;MQ=58.45;MQ0=0;MQRankSum=-0.196;QD=17.25;ReadPosRankSum=1.121;VQSLOD=5.1390;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,40:60:99:1065,0,424 1 98348885 98348885 G A exonic DPYD nonsynonymous SNV DPYD:NM_000110:exon2:c.C85T:p.R29C,DPYD:NM_001160301:exon2:c.C85T:p.R29C 0.74 0.56 0.78 0.91 0.79 0.73 0.7652 0.5836 0.7928 0.9258 0.7035 0.7788 0.7737 0.7456 0.72 0.6 0.78 0.69 0.81 rs1801265 COSM3735988;COSM3735989 1(skin) Pathogenic\x2cnot provided Dihydropyrimidine_dehydrogenase_deficiency\x2cnot_provided RCV000000464.2\x2cRCV000086506.1 MedGen:OMIM\x2cMedGen C2720286:274270\x2cCN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7709 0.5870 0.7883 0.8859 0.9287 0.7055 0.7767 0.7663 0.7451 0.7199 0.5991 0.7769 0.8642 0.9284 0.7140 0.7626 0.7352 hom 3393.19 118 1 98348885 . G A 3393.19 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.52;MQ0=0;QD=28.76;VQSLOD=8.2031;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3393,265,0 1 99225627 99225627 G A exonic SNX7 synonymous SNV SNX7:NM_152238:exon8:c.G1131A:p.E377E,SNX7:NM_015976:exon9:c.G1296A:p.E432E 0.88 0.87 0.91 0.67 0.99 0.97 0.9378 0.8923 0.8424 0.6455 0.9741 0.9865 0.9514 0.9723 0.96 0.9 0.99 0.86 0.98 rs2019213 COSM3997720;COSM3997719 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9350 0.8938 0.8486 0.9883 0.6500 0.9731 0.9867 0.9595 0.9721 0.9397 0.8978 0.8549 0.9967 0.6478 0.9745 0.9887 0.9633 hom 1995.75 68 1 99225627 . G A 1995.75 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8410;MQ=58.20;MQ0=0;QD=29.35;VQSLOD=7.8522;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2029,156,0 1 99418647 99418647 G C exonic PLPPR5 synonymous SNV PLPPR5:NM_001010861:exon3:c.C600G:p.V200V,PLPPR5:NM_001037317:exon3:c.C600G:p.V200V 0.22 0.27 0.16 0.24 0.18 0.23 0.1952 0.2688 0.1532 0.2305 0.2048 0.1754 0.2026 0.2357 0.21 0.27 0.17 0.22 0.2 rs309087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1914 0.2671 0.1513 0.1480 0.2272 0.1994 0.1781 0.1861 0.2348 0.2069 0.2776 0.1480 0.1722 0.2257 0.1901 0.1733 0.1830 het 817.94 72 1 99418647 . G C 817.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.167;DP=72;Dels=0.00;FS=0.964;HRun=0;HaplotypeScore=2.8649;MQ=57.12;MQ0=1;MQRankSum=1.770;QD=11.36;ReadPosRankSum=1.308;VQSLOD=4.3130;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,33:72:99:848,0,1017 1 100336361 100336361 C T exonic AGL synonymous SNV AGL:NM_000028:exon7:c.C894T:p.L298L,AGL:NM_000642:exon7:c.C894T:p.L298L,AGL:NM_000643:exon7:c.C894T:p.L298L,AGL:NM_000644:exon7:c.C894T:p.L298L,AGL:NM_000646:exon7:c.C846T:p.L282L 0.76 0.93 0.7 0.68 0.68 0.75 0.7214 0.9144 0.6901 0.6811 0.6795 0.7011 0.6998 0.7494 0.77 0.91 0.7 0.75 0.66 rs2230306 . . Benign|Benign not_specified|Glycogen_storage_disease_type_III RCV000179774.3|RCV000327447.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0017922:232400:ORPHA308684:66937008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7168 0.9165 0.6916 0.6933 0.6854 0.6749 0.7030 0.7147 0.7511 0.7554 0.9147 0.6909 0.7318 0.7017 0.6999 0.6887 0.7039 hom 1085.37 36 1 100336361 . C T 1085.37 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.15;VQSLOD=13.0005;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:84.27:1118,84,0 1 100575933 100575933 G A exonic SASS6 nonsynonymous SNV SASS6:NM_001304829:exon7:c.C275T:p.A92V,SASS6:NM_194292:exon8:c.C776T:p.A259V 0.35 0.066 0.56 0.58 0.39 0.31 0.3994 0.1145 0.6551 0.5861 0.4188 0.3932 0.3980 0.3191 0.31 0.13 0.4 0.29 0.34 rs13375867 COSM3747458 1(liver) . . . . . . . . . . . 0.277 0.156 T 0.018 0.165 B 0.009 0.133 B 0.014 0.287 N 1 0.090 P 0.665 0.163 N -1.16 0.781 T -1.48 0.362 N 0.034 0.014 -1.060 0.117 T 0.097 0.364 T . . . 2.370 0.346 18.62 0.979 0.360 0.070 0.128 N c -0.515 -0.373 0.236 0.185 0.615 0.372 0 3.41 0.380 1.301 0.328 1.048 0.713 0.011 0.184 0.993 0.574 5.270 0.148 . . . 0.4112 0.1134 0.6245 0.2999 0.5720 0.4191 0.4002 0.4012 0.3128 0.3465 0.1223 0.5644 0.3033 0.5690 0.4422 0.4167 0.3926 het 808.78 46 1 100575933 . G A 808.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.614;DP=46;Dels=0.00;FS=2.755;HRun=0;HaplotypeScore=0.0000;MQ=56.47;MQ0=0;MQRankSum=0.132;QD=17.58;ReadPosRankSum=-1.914;VQSLOD=2.7183;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,31:46:99:839,0,382 1 100598866 100598866 G A exonic TRMT13 nonsynonymous SNV TRMT13:NM_019083:exon1:c.G142A:p.A48T 0.76 0.38 0.89 0.93 0.85 0.9 0.8402 0.4465 0.9332 0.9562 0.8891 0.8511 0.8604 0.8952 0.71 0.46 0.85 . 0.66 rs472498 . . . . . . . . . . . . . 0.285 0.226 T 0.196 0.279 B 0.04 0.225 B 0.001 0.407 D 0.928 0.290 P 0.83 0.210 L 0.87 0.475 T -0.85 0.260 N 0.182 0.226 -1.080 0.074 T 0.037 0.161 T . . . 3.357 0.462 22.9 0.996 0.761 0.078 0.137 N c -0.263 -0.120 1.000 0.747 0.442 0.072 0 4.07 0.466 2.023 0.404 0.953 0.551 0.881 0.308 0.995 0.604 10.376 0.431 . ENSG00000137996.8|ENSG00000137996.8|ENSG00000122477.8|ENSG00000137996.8|ENSG00000117620.8|ENSG00000117620.8|ENSG00000117620.8|ENSG00000137996.8 Artery_Aorta|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Muscularis|Ovary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.8520 0.4424 0.9209 0.8904 0.9593 0.8840 0.8490 0.8541 0.8947 0.7461 0.4483 0.9075 0.9106 0.9621 0.8840 0.8458 0.8326 hom 1702.91 56 1 100598866 . G A 1702.91 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=30.41;VQSLOD=8.4052;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1736,138,0 1 100598867 100598867 C T exonic TRMT13 nonsynonymous SNV TRMT13:NM_019083:exon1:c.C143T:p.A48V 0.76 0.38 0.89 0.93 0.85 0.9 0.8403 0.4467 0.9332 0.9562 0.8890 0.8512 0.8607 0.8953 0.71 0.46 0.85 . 0.66 rs687513 . . . . . . . . . . . . . 0.093 0.315 T 0.327 0.314 B 0.055 0.246 B 0.001 0.407 D 0.602 0.309 P 0.975 0.246 L 0.85 0.488 T -1.6 0.399 N 0.155 0.191 -1.073 0.089 T 0.046 0.199 T . . . 4.057 0.545 23.7 0.998 0.857 0.065 0.124 N c -0.046 0.083 1.000 0.747 0.442 0.072 0 4.99 0.658 1.503 0.351 0.852 0.362 0.892 0.310 0.995 0.604 8.404 0.316 . ENSG00000137996.8|ENSG00000137996.8|ENSG00000122477.8|ENSG00000117620.8|ENSG00000137996.8|ENSG00000137996.8|ENSG00000117620.8|ENSG00000117620.8|ENSG00000117620.8|ENSG00000137996.8 Artery_Aorta|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Ovary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.8520 0.4424 0.9209 0.8904 0.9593 0.8839 0.8491 0.8541 0.8947 0.7462 0.4485 0.9075 0.9106 0.9621 0.8840 0.8457 0.8330 hom 1675.23 53 1 100598867 . C T 1675.23 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=31.61;VQSLOD=9.4010;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1708,135,0 1 100672060 100672060 T C exonic DBT nonsynonymous SNV DBT:NM_001918:exon9:c.A1150G:p.S384G 0.89 0.74 0.95 0.95 0.92 0.96 0.9138 0.7642 0.9628 0.9703 0.9338 0.9096 0.9306 0.9521 0.86 0.77 0.9 0.87 0.88 rs12021720 . . Pathogenic\x2cother Intermediate_maple_syrup_urine_disease_type_2\x2cnot_specified RCV000012727.23\x2cRCV000116865.5 MedGen\x2cMedGen CN069615\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P . . . 1.19 0.376 T 3.03 0.001 N 0.155 0.185 -1.012 0.262 T 0.014 0.055 T . . . -0.197 0.076 1.112 0.151 0.004 0.017 0.052 N c -0.706 -0.588 0.043 0.146 0.707 0.730 0 4.4 0.522 1.939 0.396 0.069 0.176 0.586 0.274 0.510 0.273 9.627 0.387 2-oxoacid dehydrogenase acyltransferase\x2c catalytic domain|Chloramphenicol acetyltransferase-like domain ENSG00000137996.8|ENSG00000137996.8|ENSG00000137992.10|ENSG00000137996.8|ENSG00000137992.10|ENSG00000137996.8|ENSG00000137996.8|ENSG00000117620.8|ENSG00000137996.8|ENSG00000137992.10|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137992.10|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137996.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid 0.9179 0.7639 0.9548 0.9170 0.9705 0.9306 0.9081 0.9132 0.9522 0.8826 0.7705 0.9523 0.9205 0.9703 0.9358 0.9186 0.9223 hom 8490.70 249 1 100672060 . T C 8490.70 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1396;MQ=59.47;MQ0=0;QD=34.10;VQSLOD=9.3821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8490,659,0 1 101203698 101203698 C T exonic VCAM1 synonymous SNV VCAM1:NM_080682:exon8:c.C1803T:p.D601D,VCAM1:NM_001078:exon9:c.C2079T:p.D693D,VCAM1:NM_001199834:exon9:c.C1893T:p.D631D 0.13 0.17 0.24 0.021 0.15 0.084 0.1577 0.1582 0.2855 0.0111 0.1184 0.1748 0.1377 0.0918 0.17 0.16 0.17 0.054 0.29 rs3176878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1615 0.1596 0.2761 0.2676 0.0121 0.1269 0.1665 0.1698 0.0925 0.1561 0.1602 0.2494 0.3046 0.0149 0.1237 0.1695 0.1370 het 1648.59 176 1 101203698 . C T 1648.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.173;DP=176;Dels=0.00;FS=1.939;HRun=1;HaplotypeScore=1.9963;MQ=59.21;MQ0=0;MQRankSum=0.294;QD=9.37;ReadPosRankSum=0.455;VQSLOD=6.6360;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,69:176:99:1679,0,2879 1 101203827 101203827 G A exonic VCAM1 synonymous SNV VCAM1:NM_080682:exon8:c.G1932A:p.K644K,VCAM1:NM_001078:exon9:c.G2208A:p.K736K,VCAM1:NM_001199834:exon9:c.G2022A:p.K674K 0.87 0.69 0.96 0.85 0.97 0.97 0.9374 0.7095 0.9666 0.8306 0.9682 0.9716 0.9548 0.9649 0.88 0.72 0.97 0.81 0.97 rs3176879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9422 0.7061 0.9656 0.9682 0.8344 0.9663 0.9703 0.9598 0.9636 0.8887 0.7227 0.9618 0.9536 0.8350 0.9625 0.9644 0.95 hom 2904.53 90 1 101203827 . G A 2904.53 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;QD=32.27;VQSLOD=9.5263;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2938,235,0 1 103352451 103352451 A G exonic COL11A1 synonymous SNV COL11A1:NM_080630:exon61:c.T4422C:p.I1474I,COL11A1:NM_001190709:exon62:c.T4653C:p.I1551I,COL11A1:NM_001854:exon63:c.T4770C:p.I1590I,COL11A1:NM_080629:exon63:c.T4806C:p.I1602I 0.48 0.05 0.75 0.66 0.61 0.57 0.5801 0.1263 0.7508 0.6445 0.6522 0.6067 0.6222 0.5743 0.45 0.14 0.61 0.37 0.55 rs2229783 COSM3747460;COSM3747461 1(haematopoietic_and_lymphoid_tissue);1(liver);1(upper_aerodigestive_tract) Benign|Benign|Benign|Benign not_specified|Stickler_Syndrome\x2c_Dominant|Fibrochondrogenesis|Marshall_syndrome RCV000246005.2|RCV000289617.1|RCV000346871.1|RCV000397321.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|CN239460|C0265282:228520:ORPHA2021:17144009|C0265235:154780:33410002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5946 0.1195 0.7331 0.5558 0.6383 0.6491 0.6093 0.6165 0.5708 0.4908 0.1380 0.6746 0.5430 0.6694 0.6385 0.6237 0.6051 het 1282.05 134 1 103352451 . A G 1282.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.973;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7331;MQ=59.72;MQ0=0;MQRankSum=0.153;QD=9.57;ReadPosRankSum=-0.372;VQSLOD=6.5072;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,55:134:99:1312,0,2290 1 103354138 103354138 A G exonic COL11A1 nonsynonymous SNV COL11A1:NM_080630:exon60:c.T4255C:p.S1419P,COL11A1:NM_001190709:exon61:c.T4486C:p.S1496P,COL11A1:NM_001854:exon62:c.T4603C:p.S1535P,COL11A1:NM_080629:exon62:c.T4639C:p.S1547P 0.78 0.8 0.89 0.75 0.83 0.66 0.7942 0.8103 0.8781 0.7304 0.8634 0.8088 0.8289 0.6706 0.81 0.8 0.81 0.76 0.72 rs1676486 COSM5438333;COSM5438332 1(oesophagus) other|Benign|Benign|Benign|Benign Lumbar_disc_herniation\x2c_susceptibility_to|not_specified|Stickler_Syndrome\x2c_Dominant|Fibrochondrogenesis|Marshall_syndrome RCV000018675.5|RCV000252849.2|RCV000292881.1|RCV000332848.1|RCV000387237.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT C2676840|CN169374|CN239460|C0265282:228520:ORPHA2021:17144009|C0265235:154780:33410002 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.601 0.309 P -1.41 0.006 N -3.42 0.944 D 4.95 0.000 N 0.112 0.188 -0.805 0.549 T 0.204 0.562 T . . . 2.942 0.414 22.0 0.666 0.079 0.094 0.150 N c -0.698 -0.341 0.981 0.301 0.706 0.609 0 5.67 0.876 5.474 0.663 0.138 0.222 1.000 0.715 0.963 0.446 14.890 0.701 . . . 0.7995 0.8070 0.8728 0.8211 0.7251 0.8621 0.8086 0.8157 0.6698 0.8121 0.8054 0.8505 0.8079 0.7658 0.8545 0.8092 0.8096 het 634.20 39 1 103354138 . A G 634.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.147;DP=39;Dels=0.00;FS=2.920;HRun=1;HaplotypeScore=0.7887;MQ=57.12;MQ0=0;MQRankSum=-1.098;QD=16.26;ReadPosRankSum=-2.328;VQSLOD=2.5415;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,25:39:99:664,0,303 1 103354428 103354428 A G exonic COL11A1 synonymous SNV COL11A1:NM_080630:exon58:c.T4164C:p.G1388G,COL11A1:NM_001190709:exon59:c.T4395C:p.G1465G,COL11A1:NM_001854:exon60:c.T4512C:p.G1504G,COL11A1:NM_080629:exon60:c.T4548C:p.G1516G 0.62 0.26 0.84 0.75 0.8 0.65 0.7239 0.3112 0.8342 0.7251 0.8109 0.7779 0.7698 0.6491 0.62 0.32 0.78 0.53 0.7 rs1763347 COSM423331;COSM423330 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign|Benign|Benign not_specified|Stickler_Syndrome\x2c_Dominant|Marshall_syndrome|Fibrochondrogenesis RCV000249297.2|RCV000304656.1|RCV000334895.1|RCV000395180.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239460|C0265235:154780:33410002|C0265282:228520:ORPHA2021:17144009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7376 0.3005 0.8250 0.7963 0.7192 0.8088 0.7776 0.7704 0.6488 0.6501 0.3125 0.8103 0.7848 0.7559 0.8027 0.7805 0.7531 het 779.01 71 1 103354428 . A G 779.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.453;DP=71;Dels=0.00;FS=1.984;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=1.262;QD=10.97;ReadPosRankSum=-1.355;VQSLOD=6.0601;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,33:71:99:809,0,898 1 103379918 103379918 G A exonic COL11A1 nonsynonymous SNV COL11A1:NM_080630:exon50:c.C3620T:p.P1207L,COL11A1:NM_001190709:exon51:c.C3851T:p.P1284L,COL11A1:NM_001854:exon52:c.C3968T:p.P1323L,COL11A1:NM_080629:exon52:c.C4004T:p.P1335L 0.5 0.049 0.76 0.7 0.61 0.59 0.5916 0.1264 0.7617 0.6892 0.6703 0.6114 0.6425 0.5933 0.45 0.14 0.61 0.36 0.53 rs3753841 COSM3747463;COSM3747462 1(liver);1(upper_aerodigestive_tract) Benign|Benign|Benign|Benign not_specified|Stickler_Syndrome\x2c_Dominant|Fibrochondrogenesis|Marshall_syndrome RCV000247078.2|RCV000270271.1|RCV000328768.1|RCV000364819.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|CN239460|C0265282:228520:ORPHA2021:17144009|C0265235:154780:33410002 Glaucoma (primary open-angle) 0.83 . 22922875 rs3753841 9E-10 0.042 0.416 D 0.104 0.503 B 0.024 0.528 B 0.000 0.629 D 0.000 0.588 P 2.62 0.769 M -4.09 0.966 D -5.73 0.876 D 0.198 0.567 0.969 0.967 D 0.915 0.972 D . . . 5.659 0.771 26.7 0.998 0.844 0.997 0.985 D c 0.508 0.615 1.000 0.747 0.693 0.558 0 5.75 0.904 9.294 0.951 1.048 0.713 1.000 0.715 1.000 0.888 19.960 0.972 . . . 0.6065 0.1172 0.7461 0.5941 0.6835 0.6689 0.6118 0.6266 0.5906 0.4980 0.1362 0.6848 0.5993 0.7016 0.6620 0.6284 0.6204 het 667.71 57 1 103379918 . G A 667.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.918;DP=57;Dels=0.00;FS=2.182;HRun=1;HaplotypeScore=0.7340;MQ=58.27;MQ0=0;MQRankSum=-0.312;QD=11.71;ReadPosRankSum=0.574;VQSLOD=5.6216;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,30:57:99:698,0,631 1 107979396 107979396 A C exonic NTNG1 synonymous SNV NTNG1:NM_001113226:exon6:c.A1365C:p.G455G,NTNG1:NM_001312688:exon7:c.A1263C:p.G421G 0.95 0.82 0.99 1. 1. 1. 0.9858 0.8399 0.9919 1 1 0.9994 0.9933 0.9997 0.95 0.85 1. 0.85 . rs480392 COSM4142084;COSM4142083 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9886 0.8416 0.9920 0.9995 1 1 0.9994 0.9936 0.9997 0.9556 0.8445 0.9940 1 1 1 0.9994 0.9959 hom 3394.25 103 1 107979396 . A C 3394.25 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;QD=32.95;VQSLOD=9.3009;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3394,256,0 1 108185301 108185301 C G exonic VAV3 nonsynonymous SNV VAV3:NM_001079874:exon3:c.G174C:p.Q58H,VAV3:NM_006113:exon20:c.G1854C:p.Q618H 0.15 0.047 0.17 0.23 0.13 0.23 0.1545 0.0690 0.1816 0.2334 0.0979 0.1466 0.1410 0.2034 0.13 0.078 0.15 0.076 0.18 rs12403266 COSM146568;COSM4415694 1(stomach);1(haematopoietic_and_lymphoid_tissue);4(soft_tissue) . . . . . . . . . . . 0.078 0.339 T 0.0 0.026 B 0.001 0.040 B 0.032 0.251 N 1 0.090 P -0.845 0.015 N 1.57 0.293 T 0.42 0.034 N 0.036 0.121 -1.022 0.230 T 0.018 0.074 T . . . -0.434 0.059 0.320 0.115 0.002 0.085 0.143 N c -0.614 -0.607 0.000 0.044 0.693 0.558 0 -0.382 0.118 -0.045 0.119 -0.534 0.049 0.944 0.326 0.303 0.238 6.430 0.209 Calmodulin-regulated spectrin-associated protein\x2c CH domain|Calponin homology domain;SH3 domain|Variant SH3 domain . . 0.1544 0.0669 0.1840 0.1435 0.2264 0.0915 0.1475 0.1445 0.2013 0.1227 0.0721 0.1799 0.1391 0.1987 0.0902 0.1478 0.1268 hom 2199.03 69 1 108185301 . C G 2199.03 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3691;MQ=58.94;MQ0=0;QD=31.87;VQSLOD=8.5879;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2232,172,0 1 108185309 108185309 G A exonic VAV3 nonsynonymous SNV VAV3:NM_001079874:exon3:c.C166T:p.P56S,VAV3:NM_006113:exon20:c.C1846T:p.P616S 0.14 0.044 0.16 0.21 0.11 0.23 0.1360 0.0614 0.1733 0.2112 0.0859 0.1213 0.1233 0.1982 0.11 0.068 0.12 0.076 0.18 rs12410676 COSM4416270;COSM4416271 1(haematopoietic_and_lymphoid_tissue);4(soft_tissue) . . . . . . . . . . . 0.48 0.082 T 0.005 0.258 B 0.01 0.246 B 0.001 0.414 D 0.104 0.383 P 1.475 0.372 L 1.6 0.286 T -1.33 0.418 N 0.058 0.163 -1.061 0.114 T 0.024 0.101 T . . . -0.666 0.047 0.086 0.204 0.007 0.801 0.395 D c -0.588 -0.497 0.001 0.081 0.638 0.428 0 3.79 0.426 3.080 0.496 -0.288 0.083 1.000 0.715 0.200 0.217 7.840 0.284 Calmodulin-regulated spectrin-associated protein\x2c CH domain|Calponin homology domain;SH3 domain|Variant SH3 domain . . 0.1369 0.0600 0.1744 0.1143 0.2061 0.0793 0.1230 0.1314 0.1963 0.1015 0.0646 0.1731 0.1093 0.1778 0.0768 0.1162 0.1074 het 907.60 72 1 108185309 . G A 907.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.192;DP=72;Dels=0.00;FS=0.923;HRun=0;HaplotypeScore=3.3417;MQ=58.98;MQ0=0;MQRankSum=-1.328;QD=12.61;ReadPosRankSum=-1.110;VQSLOD=5.5679;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,35:72:99:938,0,965 1 108307727 108307727 T A exonic VAV3 nonsynonymous SNV VAV3:NM_006113:exon9:c.A892T:p.T298S 0.51 0.59 0.43 0.39 0.7 0.38 0.5883 0.6034 0.3551 0.3820 0.6806 0.6906 0.5806 0.4002 0.67 0.61 0.7 0.55 0.71 rs7528153 . . . . . . . . . . . . . 0.616 0.054 T 0.566 0.366 P 0.338 0.405 B 0.000 0.559 D 0.001 0.460 P 1.235 0.309 L -0.26 0.672 T -0.16 0.095 N 0.024 0.098 -1.046 0.154 T 0.081 0.319 T . . . 1.178 0.208 11.63 0.919 0.206 0.907 0.519 D c -0.229 -0.073 0.003 0.099 0.615 0.372 0 4.5 0.542 0.851 0.272 0.964 0.580 1.000 0.715 1.000 0.888 6.565 0.216 Dbl homology (DH) domain . . 0.5839 0.6023 0.3841 0.6594 0.3859 0.6834 0.6941 0.6150 0.4017 0.6488 0.6072 0.4499 0.6424 0.3919 0.6716 0.7041 0.6847 hom 2907.40 112 1 108307727 . T A 2907.40 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.451;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.04;MQ0=0;MQRankSum=1.638;QD=25.96;ReadPosRankSum=1.482;VQSLOD=6.3501;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,110:112:99:2940,200,0 1 108313258 108313258 C T exonic VAV3 synonymous SNV VAV3:NM_006113:exon6:c.G648A:p.K216K 0.67 0.69 0.62 0.68 0.78 0.57 0.7279 0.7038 0.6205 0.6726 0.8044 0.7844 0.6932 0.5901 0.76 0.71 0.79 0.74 0.66 rs6583048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7253 0.7029 0.6239 0.7238 0.6758 0.8018 0.7876 0.7301 0.5888 0.7616 0.7060 0.6480 0.7152 0.6758 0.7898 0.8021 0.7883 hom 2543.42 84 1 108313258 . C T 2543.42 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=30.28;VQSLOD=9.1597;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2576,193,0 1 109268441 109268441 G A exonic FNDC7 nonsynonymous SNV FNDC7:NM_001144937:exon6:c.G926A:p.S309N 0.17 0.32 0.086 0.099 0.14 0.12 0.1478 0.3059 0.0681 0.0952 0.2148 0.1444 0.1490 0.1182 0.2 0.3 0.15 0.18 0.16 rs11582005 COSM4382630;COSM146569;COSM4382629 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.288 0.148 N 1 0.090 P -0.895 0.014 N 1.92 0.231 T -0.35 0.129 N 0.003 0.041 -1.021 0.235 T 0.012 0.047 T . . . -1.307 0.022 0.004 0.395 0.027 0.007 0.030 N c -1.808 -1.832 0.230 0.184 0.487 0.133 0 -8.02 0.010 -2.476 0.011 -1.081 0.019 0.000 0.063 0.942 0.416 14.254 0.654 Fibronectin type III . . 0.1445 0.3077 0.0726 0.1606 0.0975 0.2185 0.1434 0.1337 0.1156 0.2016 0.2984 0.0764 0.1391 0.1023 0.2129 0.1616 0.2037 het 3233.06 208 1 109268441 . G A 3233.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.166;DP=208;Dels=0.00;FS=2.763;HRun=1;HaplotypeScore=11.9534;MQ=58.57;MQ0=0;MQRankSum=1.044;QD=15.54;ReadPosRankSum=0.674;VQSLOD=3.3741;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,121:208:99:3262,0,2187 1 109268573 109268573 T C exonic FNDC7 nonsynonymous SNV FNDC7:NM_001144937:exon6:c.T1058C:p.V353A 0.59 0.8 0.53 0.23 0.71 0.61 0.6521 0.7941 0.5341 0.2349 0.6808 0.7104 0.6476 0.6170 0.74 0.79 0.71 0.59 0.77 rs4494160 COSM3996722;COSM3996723;COSM3996721 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.210 P -3.005 0.000 N 2.24 0.179 T 3.07 0.001 N 0.104 0.594 -0.956 0.400 T 0.004 0.012 T . . . 1.527 0.246 13.46 0.507 0.044 0.158 0.189 N c -0.664 -0.304 0.999 0.384 0.554 0.246 0 6.05 0.981 5.688 0.677 0.069 0.176 1.000 0.715 0.999 0.750 15.621 0.764 Fibronectin type III ENSG00000116266.6 Cells_Transformed_fibroblasts 0.6444 0.7985 0.5373 0.6501 0.2322 0.6801 0.7185 0.6490 0.6180 0.7164 0.7946 0.5776 0.6457 0.2515 0.6898 0.7368 0.7108 hom 7106.15 206 1 109268573 . T C 7106.15 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.463;DP=206;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4262;MQ=59.37;MQ0=0;MQRankSum=-1.160;QD=34.50;ReadPosRankSum=-0.404;VQSLOD=8.3924;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,205:206:99:7072,523,0 1 109273456 109273456 A G exonic FNDC7 synonymous SNV FNDC7:NM_001144937:exon9:c.A1785G:p.G595G 0.45 0.56 0.44 0.2 0.54 0.47 0.4934 0.5732 0.4565 0.2091 0.4980 0.5318 0.4835 0.4613 0.55 0.56 0.54 0.48 0.5 rs4970809 COSM4417133;COSM4417132;COSM4417134 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4898 0.5726 0.4540 0.4769 0.2069 0.4925 0.5405 0.5024 0.4620 0.5288 0.5747 0.4535 0.4833 0.2084 0.4880 0.5509 0.5357 het 2459.79 196 1 109273456 . A G 2459.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.150;DP=196;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5686;MQ=59.79;MQ0=0;MQRankSum=-2.074;QD=12.55;ReadPosRankSum=-0.008;VQSLOD=5.0215;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,95:196:99:2490,0,2696 1 109363232 109363232 T C exonic AKNAD1 synonymous SNV AKNAD1:NM_152763:exon14:c.A2184G:p.K728K 0.39 0.26 0.39 0.7 0.26 0.36 0.3105 0.2858 0.4178 0.7001 0.2754 0.2378 0.3029 0.3544 0.25 0.28 0.23 0.33 0.12 rs1333130 COSM5653794 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3171 0.2861 0.4135 0.3196 0.7037 0.2789 0.2310 0.3112 0.3528 0.2779 0.2823 0.3890 0.2980 0.7021 0.2806 0.2214 0.2898 het 1168.98 104 1 109363232 . T C 1168.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.338;DP=104;Dels=0.00;FS=5.062;HRun=0;HaplotypeScore=1.9916;MQ=58.57;MQ0=0;MQRankSum=1.808;QD=11.24;ReadPosRankSum=0.923;VQSLOD=5.1393;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,51:104:99:1199,0,1325 1 109369915 109369915 G T exonic AKNAD1 nonsynonymous SNV AKNAD1:NM_152763:exon11:c.C1848A:p.N616K 0.5 0.63 0.53 0.26 0.58 0.48 0.5516 0.6308 0.4883 0.2709 0.4921 0.6021 0.5608 0.5112 0.61 0.64 0.6 0.58 0.46 rs7551421 COSM3747466;COSM146571;COSM4383049 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver);2(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.907 0.086 N 1 0.090 P 0 0.065 N 2.52 0.142 T -0.04 0.076 N 0.005 0.002 -0.973 0.365 T 0.002 0.006 T . . . -1.636 0.014 0.002 0.208 0.008 0.001 0.008 N c -2.157 -2.156 1.000 0.747 0.516 0.203 0 -7.42 0.012 -1.351 0.027 -1.461 0.011 0.000 0.063 0.077 0.179 2.307 0.039 . . . 0.5416 0.6298 0.4885 0.5279 0.2687 0.4934 0.6065 0.5335 0.5120 0.5803 0.6402 0.5290 0.5795 0.2536 0.5003 0.6040 0.5340 hom 5816.35 180 1 109369915 . G T 5816.35 Mask AC=2;AF=1.00;AN=2;DP=180;DS;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.5784;MQ=59.33;MQ0=0;QD=32.31;VQSLOD=9.2183;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:5816,454,0 1 109377070 109377070 C A exonic AKNAD1 nonsynonymous SNV AKNAD1:NM_152763:exon9:c.G1745T:p.G582V 0.13 0.21 0.095 0.12 0.11 0.09 0.1401 0.2170 0.1022 0.1391 0.1413 0.1407 0.1571 0.1107 0.14 0.19 0.11 0.15 0.11 rs12060255 . . . . . . . . . . . . . 0.075 0.371 T 0.396 0.377 B 0.1 0.299 B . . . 1.000 0.090 P 0.805 0.203 L 3.17 0.085 T -1.75 0.513 N 0.021 0.049 -0.958 0.395 T 0.008 0.029 T . . . 0.789 0.169 9.393 0.826 0.138 0.038 0.090 N c -0.826 -0.946 0.650 0.221 0.487 0.133 0 -0.038 0.131 1.155 0.311 0.636 0.291 0.021 0.196 0.064 0.173 2.583 0.045 . ENSG00000085433.11 Colon_Sigmoid 0.1101 0.1915 0.0830 0.1024 0.1189 0.1115 0.1120 0.1051 0.0919 0.1367 0.1904 0.0931 0.1026 0.1142 0.1194 0.1170 0.1061 het 114.45 19 1 109377070 . C A 114.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.798;DP=19;Dels=0.00;FS=2.017;HRun=0;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;MQRankSum=1.623;QD=6.02;ReadPosRankSum=-0.307;VQSLOD=4.4859;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,6:19:99:144,0,377 1 109395105 109395105 C T exonic AKNAD1 nonsynonymous SNV AKNAD1:NM_152763:exon2:c.G182A:p.S61N 0.87 0.88 0.88 0.94 0.79 0.85 0.8324 0.8719 0.8600 0.9383 0.8233 0.8097 0.8095 0.8295 0.83 0.87 0.82 0.83 0.8 rs1277207 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.050 0.020 N 1 0.090 P -1.59 0.004 N 3.24 0.070 T 0.15 0.054 N 0.014 0.003 -0.948 0.414 T 0.002 0.006 T . . . -1.284 0.023 0.005 0.353 0.022 0.003 0.016 N c -1.849 -1.828 1.000 0.467 0.497 0.185 0 -4.24 0.035 -0.070 0.114 -0.819 0.031 0.000 0.063 0.000 0.016 6.609 0.218 . ENSG00000121940.11|ENSG00000121940.11|ENSG00000121957.8|ENSG00000085433.11|ENSG00000162641.14|ENSG00000203897.3 Artery_Aorta|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Testis|Testis 0.8336 0.8724 0.8539 0.8330 0.9378 0.8227 0.8105 0.8273 0.8270 0.8363 0.8698 0.8377 0.8377 0.9506 0.8088 0.8124 0.8108 het 2123.44 164 1 109395105 . C T 2123.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.886;DP=164;Dels=0.00;FS=0.590;HRun=1;HaplotypeScore=6.9197;MQ=58.44;MQ0=0;MQRankSum=1.057;QD=12.95;ReadPosRankSum=0.610;VQSLOD=4.9906;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,81:164:99:2153,0,2103 1 109440215 109440215 G A exonic GPSM2 nonsynonymous SNV GPSM2:NM_001321038:exon4:c.G380A:p.R127Q,GPSM2:NM_001321039:exon4:c.G380A:p.R127Q,GPSM2:NM_013296:exon4:c.G380A:p.R127Q 0.069 0.12 0.045 0.002 0.098 0.053 0.0865 0.0981 0.0356 0.0002 0.1107 0.1059 0.1093 0.0701 0.098 0.098 0.098 0.11 0.11 rs41279678 COSM3750209 1(pancreas);1(large_intestine) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000038784.4|RCV000398884.1 MedGen|MedGen CN169374|CN239439 . . . . . . 0.055 0.384 T 0.933 0.501 P 0.242 0.370 B 0.000 0.629 D 1e-37 0.810 P 1.06 0.271 L -3.35 0.940 D -3.91 0.736 D 0.255 0.416 0.103 0.842 D 0.586 0.852 D . . . 5.361 0.726 25.9 0.999 0.996 0.985 0.836 D c 0.178 0.236 1.000 0.747 0.706 0.609 0 5.01 0.663 8.159 0.895 1.048 0.713 1.000 0.715 0.998 0.697 16.513 0.841 Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain ENSG00000121957.8|ENSG00000121957.8|ENSG00000162641.14|ENSG00000203897.3 Esophagus_Mucosa|Lung|Testis|Testis 0.0838 0.0995 0.0429 0.1059 0.0002 0.1126 0.1025 0.0965 0.0697 0.0971 0.0920 0.0576 0.1093 0 0.1206 0.1068 0.1010 het 952.92 80 1 109440215 . G A 952.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.844;DP=80;Dels=0.00;FS=1.843;HRun=1;HaplotypeScore=3.5441;MQ=60.00;MQ0=0;MQRankSum=1.246;QD=11.91;ReadPosRankSum=-0.043;VQSLOD=5.5147;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,40:80:99:983,0,1000 1 109465166 109465168 CTT - exonic GPSM2 nonframeshift deletion GPSM2:NM_001321038:exon13:c.1568_1570del:p.S525del,GPSM2:NM_001321039:exon13:c.1568_1570del:p.S525del,GPSM2:NM_013296:exon13:c.1568_1570del:p.S525del . . . . . . 0.2907 0.5753 0.2234 0.0573 0.3070 0.2929 0.3172 0.2644 0.38 0.56 0.28 . . rs374875864 COSM5713033 1(large_intestine);2(central_nervous_system) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000218159.2|RCV000270361.1 MedGen|MedGen CN169374|CN239439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2829 0.5772 0.2294 0.3494 0.0576 0.3049 0.2870 0.2907 0.2673 0.3574 0.5663 0.2584 0.3267 0.0448 0.3131 0.2903 0.2982 het 3943.36 179 1 109465165 . ACTT A 3943.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.349;DP=179;FS=0.000;HRun=0;HaplotypeScore=716.4651;MQ=57.31;MQ0=0;MQRankSum=0.992;QD=22.03;ReadPosRankSum=0.805;set=variant2 GT:AD:DP:GQ:PL 0/1:87,92:179:99:3943,0,4274 1 109479978 109479978 G T exonic CLCC1 nonsynonymous SNV CLCC1:NM_001278203:exon5:c.C549A:p.S183R,CLCC1:NM_001278202:exon7:c.C741A:p.S247R,CLCC1:NM_001048210:exon10:c.C1104A:p.S368R,CLCC1:NM_015127:exon10:c.C954A:p.S318R 0.31 0.62 0.21 0.038 0.28 0.25 0.2782 0.5754 0.2190 0.0372 0.2875 0.2772 0.3013 0.2594 0.37 0.56 0.27 0.29 0.3 rs168107 COSM3750211;COSM3750210 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.102 B 0.001 0.063 B 0.001 0.434 N 0.998 0.224 P -2.15 0.001 N 0.99 0.418 T 2.03 0.004 N 0.037 0.017 -0.937 0.431 T 0.006 0.021 T . . . -0.320 0.067 0.598 0.581 0.058 0.032 0.081 N c -1.408 -1.223 0.002 0.093 0.707 0.730 0 1.71 0.233 0.426 0.209 0.152 0.238 0.529 0.269 0.553 0.280 8.446 0.318 . ENSG00000121940.11|ENSG00000121940.11|ENSG00000121957.8|ENSG00000085433.11|ENSG00000162641.14 Artery_Tibial|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Testis 0.2697 0.5736 0.2245 0.3647 0.0367 0.2849 0.2685 0.2788 0.2608 0.3480 0.5665 0.2530 0.3433 0.0216 0.2942 0.2780 0.2914 het 1091.91 82 1 109479978 . G T 1091.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.423;DP=82;Dels=0.00;FS=9.882;HRun=0;HaplotypeScore=3.5151;MQ=58.95;MQ0=0;MQRankSum=-0.166;QD=13.32;ReadPosRankSum=-0.547;VQSLOD=4.7503;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,45:82:99:1122,0,898 1 109486196 109486196 A G exonic CLCC1 synonymous SNV CLCC1:NM_001048210:exon6:c.T603C:p.T201T,CLCC1:NM_015127:exon6:c.T453C:p.T151T 0.54 0.76 0.51 0.4 0.52 0.43 0.5287 0.7259 0.5585 0.4057 0.4854 0.5305 0.5430 0.4572 0.59 0.73 0.53 0.53 0.54 rs338466 COSM3747467;COSM3747468;COSM3747469 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5258 0.7271 0.5616 0.5655 0.4097 0.4831 0.5281 0.5336 0.4602 0.5760 0.7238 0.5803 0.5795 0.3975 0.4871 0.5339 0.5143 het 1854.61 154 1 109486196 . A G 1854.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.589;DP=154;Dels=0.00;FS=0.599;HRun=1;HaplotypeScore=5.8565;MQ=59.90;MQ0=0;MQRankSum=0.224;QD=12.04;ReadPosRankSum=-0.885;VQSLOD=4.7307;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,78:154:99:1885,0,1934 1 109656946 109656946 T C exonic KIAA1324 synonymous SNV KIAA1324:NM_001267048:exon1:c.T141C:p.H47H,KIAA1324:NM_020775:exon1:c.T141C:p.H47H 0.54 0.75 0.48 0.48 0.37 0.51 0.5048 0.7197 0.5827 0.5309 0.5029 0.4440 0.452 0.5167 0.47 0.67 0.36 0.53 0.16 rs667524 COSM3750212 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4284 0.7039 0.4938 0.4129 0.4753 0.3957 0.3584 0.4055 0.4765 0.4672 0.6905 0.4796 0.4338 0.4907 0.3771 0.3606 0.3953 het 132.24 24 1 109656946 . T C 132.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.699;DP=24;Dels=0.00;FS=2.035;HRun=0;HaplotypeScore=1.4972;MQ=59.03;MQ0=0;MQRankSum=0.889;QD=5.51;ReadPosRankSum=1.207;VQSLOD=4.2484;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,7:24:99:162,0,447 1 109704618 109704618 A G exonic KIAA1324 nonsynonymous SNV KIAA1324:NM_001267048:exon2:c.A256G:p.I86V,KIAA1324:NM_020775:exon2:c.A256G:p.I86V 1. 0.98 1. 1. 1. 1. 0.9987 0.9868 0.9995 0.9986 1 1.0000 1 1 1. 0.99 1. 1. 1. rs678238 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.991 0.258 P -1.53 0.005 N 1.24 0.411 T 0.79 0.023 N 0.14 0.270 -0.992 0.322 T 0.009 0.032 T . . . 1.286 0.219 12.20 0.843 0.147 0.202 0.208 N c -0.754 -0.421 1.000 0.747 0.616 0.391 0 5.55 0.832 3.325 0.515 0.138 0.222 1.000 0.715 0.970 0.461 11.459 0.493 . . . 0.9989 0.9859 0.9994 1 0.9985 1 1.0000 0.9989 1.0000 0.9959 0.9859 1 1 0.9981 1 1 0.9990 hom 2815.16 84 1 109704618 . A G 2815.16 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9661;MQ=59.73;MQ0=0;QD=33.51;VQSLOD=9.8089;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2848,232,0 1 109735298 109735298 T C exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon7:c.T735C:p.G245G,KIAA1324:NM_001267048:exon12:c.T1488C:p.G496G,KIAA1324:NM_001284352:exon13:c.T1443C:p.G481G,KIAA1324:NM_020775:exon14:c.T1749C:p.G583G 0.74 0.36 0.81 1. 0.76 0.93 0.7832 0.4133 0.8772 0.9992 0.8412 0.7595 0.8007 0.9089 0.64 0.41 0.75 0.69 0.73 rs658779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7896 0.4080 0.8542 0.7038 0.9991 0.8372 0.7569 0.7748 0.9053 0.6880 0.4150 0.8165 0.7185 0.9981 0.8290 0.7664 0.7684 hom 7754.43 250 1 109735298 . T C 7754.43 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.90;MQ0=0;QD=31.02;VQSLOD=9.3960;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7753,647,0 1 109735416 109735416 A C exonic KIAA1324 nonsynonymous SNV KIAA1324:NM_001284353:exon7:c.A853C:p.T285P,KIAA1324:NM_001267048:exon12:c.A1606C:p.T536P,KIAA1324:NM_001284352:exon13:c.A1561C:p.T521P,KIAA1324:NM_020775:exon14:c.A1867C:p.T623P 0.74 0.36 0.81 1. 0.76 0.93 0.7829 0.4139 0.8775 0.9975 0.8412 0.7595 0.8002 0.9060 0.64 0.41 0.75 0.7 0.72 rs659543 COSM4142096 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.368 0.136 N 1 0.090 P -1.865 0.003 N 0.05 0.619 T 3.25 0.001 N 0.025 0.475 -0.993 0.318 T 0.009 0.034 T . . . -2.411 0.004 0.001 0.060 0.000 0.009 0.034 N c -1.949 -1.902 1.000 0.747 0.534 0.214 0 -7.86 0.010 -1.509 0.024 -3.568 0.001 0.000 0.063 0.006 0.095 1.863 0.030 Growth factor receptor cysteine-rich domain . . 0.7893 0.4082 0.8542 0.7040 0.9973 0.8371 0.7569 0.7745 0.9026 0.6880 0.4151 0.8174 0.7233 0.9981 0.8286 0.7662 0.7720 hom 7651.56 230 1 109735416 . A C 7651.56 Mask AC=2;AF=1.00;AN=2;DP=230;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.4181;MQ=60.37;MQ0=0;QD=33.27;VQSLOD=6.8496;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7651,602,0 1 109737063 109737063 C T exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon8:c.C954T:p.N318N,KIAA1324:NM_001267048:exon13:c.C1707T:p.N569N,KIAA1324:NM_001284352:exon14:c.C1662T:p.N554N,KIAA1324:NM_020775:exon15:c.C1968T:p.N656N 0.71 0.3 0.8 0.97 0.76 0.89 0.7772 0.3678 0.8761 0.9731 0.8456 0.7673 0.7963 0.8747 0.63 0.37 0.76 0.67 0.75 rs2359246 COSM5618807 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7850 0.3642 0.8534 0.7075 0.9704 0.8413 0.7658 0.7730 0.8721 0.6790 0.3742 0.8146 0.7267 0.9710 0.8329 0.7748 0.7653 hom 3415.32 110 1 109737063 . C T 3415.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.637;DP=110;Dels=0.00;FS=4.125;HRun=0;HaplotypeScore=3.9602;MQ=59.37;MQ0=0;MQRankSum=1.637;QD=31.05;ReadPosRankSum=1.541;VQSLOD=4.3044;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,108:110:99:3366,244,0 1 109737090 109737090 G A exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon8:c.G981A:p.P327P,KIAA1324:NM_001267048:exon13:c.G1734A:p.P578P,KIAA1324:NM_001284352:exon14:c.G1689A:p.P563P,KIAA1324:NM_020775:exon15:c.G1995A:p.P665P 0.72 0.31 0.8 0.97 0.76 0.89 0.7772 0.3691 0.8757 0.9728 0.8456 0.7673 0.7936 0.8742 0.63 0.37 0.76 0.67 0.75 rs2359245 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7849 0.3645 0.8530 0.7073 0.9703 0.8411 0.7657 0.7728 0.8717 0.6798 0.3761 0.8177 0.7282 0.9710 0.8329 0.7749 0.7663 hom 4476.54 140 1 109737090 . G A 4476.54 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3036;MQ=59.50;MQ0=0;QD=31.98;VQSLOD=9.4637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4476,346,0 1 109737132 109737132 T C exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon8:c.T1023C:p.T341T,KIAA1324:NM_001267048:exon13:c.T1776C:p.T592T,KIAA1324:NM_001284352:exon14:c.T1731C:p.T577T,KIAA1324:NM_020775:exon15:c.T2037C:p.T679T 0.77 0.47 0.81 0.97 0.77 0.93 0.7948 0.4916 0.8828 0.9731 0.8456 0.7693 0.8024 0.9129 0.67 0.49 0.76 0.74 0.75 rs2359244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7996 0.4875 0.8610 0.7172 0.9706 0.8411 0.7672 0.7830 0.9092 0.7149 0.4956 0.8278 0.7333 0.9723 0.8329 0.7761 0.7802 hom 4776.22 153 1 109737132 . T C 4776.22 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.228;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7537;MQ=59.30;MQ0=0;MQRankSum=0.820;QD=31.22;ReadPosRankSum=1.436;VQSLOD=8.3197;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,152:153:99:4738,348,0 1 109737172 109737172 C T exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon8:c.C1063T:p.L355L,KIAA1324:NM_001267048:exon13:c.C1816T:p.L606L,KIAA1324:NM_001284352:exon14:c.C1771T:p.L591L,KIAA1324:NM_020775:exon15:c.C2077T:p.L693L 0.71 0.3 0.8 0.97 0.76 0.89 0.7772 0.3680 0.8762 0.9731 0.8456 0.7673 0.7941 0.8745 0.63 0.37 0.76 0.69 0.74 rs2359243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7850 0.3644 0.8532 0.7073 0.9703 0.8411 0.7657 0.7730 0.8718 0.6792 0.3745 0.8138 0.72 0.9716 0.8329 0.7748 0.7679 hom 4795.06 157 1 109737172 . C T 4795.06 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.34;MQ0=0;QD=30.54;VQSLOD=9.1618;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:157:99:4759,373,0 1 109742485 109742485 G A exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon12:c.G1497A:p.S499S,KIAA1324:NM_001267048:exon17:c.G2250A:p.S750S,KIAA1324:NM_001284352:exon18:c.G2205A:p.S735S,KIAA1324:NM_020775:exon19:c.G2511A:p.S837S 0.76 0.47 0.81 0.96 0.79 0.88 0.8024 0.5159 0.8632 0.9676 0.8542 0.7935 0.8062 0.8684 0.7 0.52 0.79 0.78 0.75 rs913179 COSM3748989 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8061 0.5123 0.8508 0.6770 0.9687 0.8499 0.7950 0.7870 0.8664 0.7340 0.5168 0.7995 0.7086 0.9802 0.8434 0.8007 0.7982 hom 4209.28 134 1 109742485 . G A 4209.28 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3123;MQ=59.54;MQ0=0;QD=31.41;VQSLOD=9.5707;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4209,319,0 1 109745618 109745618 T C exonic KIAA1324 nonsynonymous SNV KIAA1324:NM_001284353:exon15:c.T2012C:p.L671P,KIAA1324:NM_001267048:exon20:c.T2765C:p.L922P,KIAA1324:NM_020775:exon22:c.T3026C:p.L1009P 0.89 0.78 0.9 0.96 0.9 0.95 0.9056 0.7663 0.9278 0.9682 0.9406 0.8994 0.9031 0.9565 0.85 0.76 0.9 0.92 0.87 rs1052878 COSM4142097 1(thyroid) . . . . . . . . . . . 0.317 0.137 T 0.0 0.026 B 0.0 0.013 B 0.044 0.237 N 0.557 0.313 P -0.69 0.019 N 2.72 0.120 T 1.72 0.006 N 0.03 0.146 -0.965 0.382 T 0.006 0.022 T . . . 2.870 0.406 21.7 0.896 0.184 0.075 0.134 N c -0.573 -0.384 1.000 0.410 0.615 0.372 0 4.26 0.497 1.126 0.307 0.067 0.174 0.778 0.292 0.995 0.604 5.679 0.169 . ENSG00000143126.7 Testis 0.9071 0.7611 0.9216 0.8272 0.9694 0.9375 0.9015 0.8974 0.9548 0.8663 0.7524 0.8906 0.8411 0.9815 0.9322 0.9021 0.8929 hom 5133.54 160 1 109745618 . T C 5133.54 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.6282;MQ=59.51;MQ0=0;QD=32.08;VQSLOD=3.5578;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:5133,391,0 1 109792735 109792735 - CGC exonic CELSR2 nonframeshift insertion CELSR2:NM_001408:exon1:c.34_35insCGC:p.P16_L17insP 0.57 0.42 0.63 0.53 0.73 0.6 0.6876 0.5382 0.6627 0.5845 0.7088 0.7277 0.7437 0.6592 0.62 0.49 0.69 . . rs59201433 COSM4603476 2(stomach);13(upper_aerodigestive_tract);6(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6380 0.4524 0.6096 0.7169 0.5004 0.6521 0.6899 0.6754 0.6071 0.6269 0.4917 0.6716 0.7770 0.5069 0.6779 0.7002 0.6593 het 353.62 12 1 109792735 . A ACGC 353.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.377;DP=12;FS=0.000;HRun=0;HaplotypeScore=37.4663;MQ=59.78;MQ0=0;MQRankSum=0.382;QD=29.47;ReadPosRankSum=-0.978;set=variant2 GT:AD:DP:GQ:PL 0/1:6,6:12:98.72:393,0,99 1 109794252 109794252 T C exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon1:c.T1551C:p.S517S 0.9 0.72 0.96 1. 0.97 0.94 0.9466 0.7578 0.9768 0.9993 0.9527 0.9632 0.9702 0.9458 0.9 0.78 0.96 0.86 0.98 rs454107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9498 0.7512 0.9717 0.9312 0.9995 0.9521 0.9644 0.9579 0.9468 0.9072 0.7618 0.9653 0.9371 0.9988 0.9473 0.9661 0.9470 hom 6170.03 202 1 109794252 . T C 6170.03 Mask AC=2;AF=1.00;AN=2;DP=202;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5149;MQ=59.42;MQ0=0;QD=30.54;VQSLOD=9.0516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,201:202:99:6169,520,0 1 109795026 109795026 T C exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon1:c.T2325C:p.Y775Y 0.9 0.72 0.96 1. 0.97 0.94 0.9466 0.7578 0.9764 0.9993 0.9527 0.9631 0.9701 0.9462 0.9 0.78 0.96 0.86 0.98 rs413380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9498 0.7508 0.9716 0.9312 0.9996 0.9523 0.9643 0.9577 0.9471 0.9073 0.7622 0.9642 0.9371 0.9988 0.9470 0.9660 0.9470 hom 3068.91 95 1 109795026 . T C 3068.91 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=32.30;VQSLOD=9.9544;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3102,253,0 1 109795608 109795608 T C exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon1:c.T2907C:p.F969F 0.91 0.76 0.97 1. 0.97 0.94 0.9505 0.8014 0.9779 0.9993 0.9527 0.9632 0.9690 0.9468 0.91 0.82 0.96 0.87 0.9 rs437444 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9527 0.7955 0.9725 0.9313 0.9996 0.9520 0.9644 0.9582 0.9473 0.9199 0.8060 0.9678 0.9371 0.9988 0.9475 0.9660 0.9511 hom 6649.44 203 1 109795608 . T C 6649.44 Mask AC=2;AF=1.00;AN=2;DP=203;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7362;MQ=59.22;MQ0=0;QD=32.76;VQSLOD=7.8816;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:6649,518,0 1 109806834 109806834 C T exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon10:c.C5136T:p.P1712P 0.35 0.076 0.47 0.5 0.48 0.37 0.4312 0.1271 0.5141 0.4711 0.4371 0.4645 0.4787 0.3983 0.35 0.13 0.47 0.36 0.43 rs6698843 COSM3750214 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4377 0.1180 0.4984 0.5001 0.4686 0.4426 0.4612 0.4645 0.3986 0.3569 0.1272 0.4952 0.4636 0.4603 0.4289 0.4495 0.4078 het 1092.12 80 1 109806834 . C T 1092.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.739;DP=80;Dels=0.00;FS=18.228;HRun=0;HaplotypeScore=3.4306;MQ=58.77;MQ0=0;MQRankSum=0.382;QD=13.65;ReadPosRankSum=1.596;VQSLOD=2.7490;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,40:80:99:1122,0,1025 1 109807099 109807099 G A exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon11:c.G5313A:p.P1771P 0.35 0.076 0.47 0.5 0.48 0.37 0.4286 0.1235 0.5120 0.4701 0.4360 0.4625 0.4736 0.3978 0.35 0.13 0.47 0.36 0.55 rs6689614 COSM1178398 1(liver);1(prostate);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4365 0.1172 0.4972 0.4998 0.4682 0.4398 0.4602 0.4634 0.3981 0.3565 0.1270 0.4928 0.4633 0.4628 0.4287 0.4491 0.4062 het 3006.78 198 1 109807099 . G A 3006.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.791;DP=198;Dels=0.00;FS=3.046;HRun=0;HaplotypeScore=9.6130;MQ=58.79;MQ0=0;MQRankSum=-2.263;QD=15.19;ReadPosRankSum=0.279;VQSLOD=2.7849;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,108:198:99:3037,0,2342 1 109810183 109810183 C T exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon16:c.C6027T:p.R2009R 0.035 0.0023 0.045 0.001 0.081 0.061 0.0493 0.0092 0.0278 0.0003 0.0893 0.0580 0.0640 0.0631 0.04 0.012 0.054 . 0.082 rs61761209 COSM3747472 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0491 0.0081 0.0282 0.0757 0.0003 0.0810 0.0558 0.0551 0.0623 0.0420 0.0124 0.0358 0.0662 0 0.0753 0.0552 0.0511 het 1471.43 131 1 109810183 . C T 1471.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.686;DP=131;Dels=0.00;FS=1.417;HRun=0;HaplotypeScore=7.4296;MQ=58.90;MQ0=0;MQRankSum=-0.936;QD=11.23;ReadPosRankSum=0.259;VQSLOD=3.7424;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,60:131:99:1501,0,1687 1 109810544 109810544 C A exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon17:c.C6180A:p.R2060R 0.23 0.054 0.22 0.42 0.19 0.3 0.2156 0.0711 0.2016 0.4352 0.2478 0.1941 0.2018 0.2700 0.15 0.071 0.19 0.16 0.11 rs2281894 COSM3750215 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2155 0.0661 0.1997 0.1742 0.4390 0.2343 0.1915 0.2009 0.2708 0.1867 0.0757 0.1878 0.1689 0.4474 0.2363 0.2089 0.2327 het 751.49 69 1 109810544 . C A 751.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.299;DP=69;Dels=0.00;FS=1.973;HRun=2;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;MQRankSum=1.791;QD=10.89;ReadPosRankSum=-0.380;VQSLOD=5.8289;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,31:69:99:781,0,1106 1 109816176 109816176 A C exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon33:c.A8628C:p.G2876G 0.97 0.89 0.99 1. 1. 1. 0.9935 0.9165 0.9967 1 1 0.9998 0.9956 0.9996 0.98 0.93 1. 0.94 0.31 rs441853 COSM4142101 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9945 0.9104 0.9965 1 1 0.9999 0.9997 0.9974 0.9998 0.9761 0.9168 0.9940 1 1 1 0.9999 0.9928 hom 301.46 13 1 109816176 . A C 301.46 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=23.19;VQSLOD=7.1270;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:33.03:334,33,0 1 109824250 109824250 G A exonic PSRC1 synonymous SNV PSRC1:NM_001350237:exon3:c.C510T:p.N170N,PSRC1:NM_001005290:exon4:c.C510T:p.N170N,PSRC1:NM_001032291:exon4:c.C510T:p.N170N,PSRC1:NM_001350238:exon4:c.C510T:p.N170N,PSRC1:NM_001350239:exon4:c.C510T:p.N170N,PSRC1:NM_001350240:exon4:c.C510T:p.N170N,PSRC1:NM_001350241:exon4:c.C510T:p.N170N,PSRC1:NM_001350242:exon4:c.C510T:p.N170N,PSRC1:NM_032636:exon4:c.C510T:p.N170N 0.043 0.017 0.03 0.031 0.084 0.057 0.0684 0.0247 0.0203 0.0366 0.1332 0.0847 0.0719 0.0535 0.058 0.026 0.074 0.033 0.025 rs35358959 COSM3996729;COSM3996730 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0639 0.0224 0.0205 0.0299 0.0383 0.1217 0.0829 0.0640 0.0466 0.0727 0.0246 0.0227 0.0298 0.0358 0.1234 0.0946 0.1037 het 2303.04 180 1 109824250 . G A 2303.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.785;DP=180;Dels=0.00;FS=2.676;HRun=0;HaplotypeScore=5.0480;MQ=59.20;MQ0=0;MQRankSum=-0.366;QD=12.79;ReadPosRankSum=-1.817;VQSLOD=4.5297;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,97:180:99:2333,0,2193 1 109838918 109838918 C T exonic MYBPHL nonsynonymous SNV MYBPHL:NM_001010985:exon6:c.G805A:p.D269N,MYBPHL:NM_001265613:exon6:c.G736A:p.D246N 0.87 0.66 0.95 1. 0.93 0.94 0.9219 0.6974 0.9609 0.9999 0.9624 0.9295 0.9427 0.9474 0.86 0.71 0.93 0.88 0.92 rs629001 . . . . . . . . . . . . . 0.643 0.049 T 0.01 0.144 B 0.012 0.149 B . . . 0.008 0.415 P 1.075 0.273 L -0.81 0.740 T -1.76 0.416 N 0.019 0.013 -1.093 0.051 T 0.102 0.377 T . . . 3.437 0.471 23.0 0.960 0.279 0.909 0.521 D c -0.320 -0.146 1.000 0.747 0.534 0.214 0 3.27 0.364 2.958 0.486 0.935 0.490 0.992 0.373 0.999 0.750 8.025 0.294 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000143028.7|ENSG00000143028.7|ENSG00000143028.7|ENSG00000143028.7 Artery_Aorta|Artery_Tibial|Heart_Atrial_Appendage|Thyroid 0.9289 0.6932 0.9592 0.9340 0.9996 0.9597 0.9292 0.9305 0.9478 0.8765 0.7097 0.9511 0.9205 1 0.9544 0.9334 0.9276 hom 4258.19 142 1 109838918 . C T 4258.19 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.57;MQ0=0;QD=29.99;VQSLOD=8.7441;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4258,325,0 1 109839433 109839433 A G exonic MYBPHL synonymous SNV MYBPHL:NM_001010985:exon5:c.T702C:p.T234T,MYBPHL:NM_001265613:exon5:c.T633C:p.T211T 0.93 0.73 0.97 1. 1. 1. 0.9780 0.7617 0.9908 1 1 0.9989 0.9901 0.9996 0.92 0.78 1. 0.94 1. rs1278285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9827 0.7582 0.9899 0.9965 1 1 0.9990 0.9887 0.9997 0.9365 0.7800 0.9857 1 1 1 0.9985 0.9868 hom 4054.79 127 1 109839433 . A G 4054.79 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.49;MQ0=0;QD=31.93;VQSLOD=9.6456;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4055,307,0 1 109884775 109884775 T G exonic SORT1 synonymous SNV SORT1:NM_001205228:exon9:c.A558C:p.T186T,SORT1:NM_002959:exon9:c.A969C:p.T323T 0.69 0.36 0.83 0.96 0.71 0.72 0.7290 0.4120 0.8822 0.9611 0.7064 0.7244 0.7759 0.7241 0.62 0.42 0.73 0.64 0.79 rs2228604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7416 0.4017 0.8680 0.8372 0.9564 0.7127 0.7164 0.7646 0.7300 0.6346 0.4096 0.8421 0.7980 0.9494 0.6956 0.6976 0.7 het 1106.66 64 1 109884775 . T G 1106.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.267;DP=64;Dels=0.00;FS=6.341;HRun=1;HaplotypeScore=1.9782;MQ=60.00;MQ0=0;MQRankSum=-0.159;QD=17.29;ReadPosRankSum=-0.908;VQSLOD=4.8250;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,40:64:99:1137,0,696 1 109897100 109897100 T C exonic SORT1 synonymous SNV SORT1:NM_001205228:exon5:c.A189G:p.R63R,SORT1:NM_002959:exon5:c.A597G:p.R199R 0.034 0.033 0.014 0.002 0.054 0.064 0.0510 0.0458 0.0124 0.0015 0.0786 0.0596 0.0441 0.0621 0.052 0.047 0.055 0.065 0.025 rs72646560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0475 0.0443 0.0137 0.0152 0.0014 0.0719 0.0609 0.0403 0.0567 0.0600 0.0476 0.0167 0.0132 0.0031 0.0738 0.0716 0.0867 het 2256.79 162 1 109897100 . T C 2256.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.350;DP=162;Dels=0.00;FS=0.583;HRun=1;HaplotypeScore=1.8924;MQ=59.07;MQ0=0;MQRankSum=-0.844;QD=13.93;ReadPosRankSum=-0.171;VQSLOD=5.6366;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,83:162:99:2287,0,1969 1 109897103 109897103 A G exonic SORT1 synonymous SNV SORT1:NM_001205228:exon5:c.T186C:p.F62F,SORT1:NM_002959:exon5:c.T594C:p.F198F 0.78 0.69 0.85 0.96 0.71 0.72 0.7532 0.6799 0.8919 0.9612 0.7055 0.7251 0.7863 0.7243 0.71 0.67 0.73 0.75 0.8 rs11142 COSM1332444 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7615 0.6796 0.8801 0.8430 0.9565 0.7124 0.7174 0.7750 0.7304 0.7117 0.6789 0.8568 0.8046 0.9494 0.6950 0.6987 0.7147 het 2045.09 167 1 109897103 . A G 2045.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.379;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.10;MQ0=0;MQRankSum=0.168;QD=12.25;ReadPosRankSum=0.669;VQSLOD=6.8444;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,79:167:99:2075,0,2303 1 110019439 110019439 A G exonic SYPL2 nonsynonymous SNV SYPL2:NM_001040709:exon4:c.A296G:p.E99G 0.03 0.014 0.016 0.002 0.055 0.065 0.0515 0.0272 0.0120 0.0015 0.0801 0.0629 0.0448 0.0625 0.047 0.027 0.057 0.054 0.025 rs62623713 . . . . . . . . . . . . . 0.575 0.061 T 0.005 0.119 B 0.011 0.145 B 0.677 0.061 N 1 0.090 N -0.345 0.033 N 1.45 0.325 T 1.26 0.010 N 0.043 0.028 -0.953 0.405 T 0.011 0.042 T . . . 0.424 0.135 6.823 0.951 0.257 0.112 0.163 N c -0.992 -0.892 0.989 0.315 0.657 0.484 0 3.32 0.370 0.857 0.273 1.199 0.960 0.008 0.178 0.615 0.291 7.140 0.246 Marvel domain ENSG00000162650.11 Artery_Tibial 0.0479 0.0268 0.0131 0.0180 0.0014 0.0727 0.0640 0.0416 0.0569 0.0552 0.0268 0.0167 0.0166 0.0031 0.0739 0.0741 0.0845 het 1061.44 85 1 110019439 . A G 1061.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.343;DP=85;Dels=0.00;FS=4.378;HRun=1;HaplotypeScore=2.2329;MQ=59.67;MQ0=0;MQRankSum=0.369;QD=12.49;ReadPosRankSum=-0.784;VQSLOD=5.8358;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,38:85:99:1091,0,1264 1 110086451 110086451 G A exonic GPR61 synonymous SNV GPR61:NM_031936:exon2:c.G807A:p.S269S 0.22 0.11 0.14 0.36 0.17 0.3 0.2084 0.1209 0.1829 0.3577 0.2002 0.1908 0.2146 0.2747 0.17 0.12 0.2 0.2 0.21 rs17575798 COSM3996733 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2071 0.1157 0.1784 0.2336 0.3505 0.1999 0.1871 0.1925 0.2752 0.1816 0.1156 0.1981 0.2550 0.3395 0.2018 0.1944 0.2049 het 1195.36 81 1 110086451 . G A 1195.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.544;DP=81;Dels=0.00;FS=0.887;HRun=0;HaplotypeScore=2.7603;MQ=58.71;MQ0=0;MQRankSum=-0.165;QD=14.76;ReadPosRankSum=-0.535;VQSLOD=5.8400;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,40:81:99:1225,0,953 1 110170896 110170896 T C exonic AMPD2 synonymous SNV AMPD2:NM_203404:exon8:c.T1077C:p.H359H,AMPD2:NM_001308170:exon9:c.T1209C:p.H403H,AMPD2:NM_001257361:exon10:c.T1080C:p.H360H,AMPD2:NM_004037:exon10:c.T1434C:p.H478H,AMPD2:NM_139156:exon10:c.T1191C:p.H397H,AMPD2:NM_001257360:exon11:c.T1434C:p.H478H 0.81 0.73 0.77 0.98 0.68 0.89 0.7353 0.7542 0.7925 0.9820 0.7213 0.6604 0.7671 0.8604 0.68 0.76 0.65 0.8 0.68 rs863978 COSM4142109;COSM4142108 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7358 0.7600 0.7872 0.6883 0.9809 0.7196 0.6527 0.7284 0.8587 0.7062 0.7566 0.7734 0.6755 0.9815 0.7034 0.6432 0.7290 het 827.39 68 1 110170896 . T C 827.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.677;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9142;MQ=59.11;MQ0=0;MQRankSum=1.428;QD=12.17;ReadPosRankSum=0.296;VQSLOD=6.5198;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,31:68:99:857,0,1091 1 110295772 110295772 T C exonic EPS8L3 synonymous SNV EPS8L3:NM_001319952:exon12:c.A1068G:p.S356S,EPS8L3:NM_024526:exon13:c.A1167G:p.S389S,EPS8L3:NM_133181:exon13:c.A1167G:p.S389S,EPS8L3:NM_139053:exon13:c.A1170G:p.S390S 0.77 0.91 0.68 0.86 0.58 0.74 0.6614 0.8779 0.6693 0.8389 0.5654 0.5986 0.5982 0.7224 0.69 0.87 0.6 0.73 0.61 rs1887547 COSM3750218 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6537 0.8817 0.6707 0.5677 0.8393 0.5640 0.5983 0.6040 0.7199 0.6987 0.8800 0.6271 0.5563 0.8435 0.5673 0.6181 0.6541 hom 2690.14 96 1 110295772 . T C 2690.14 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.0316;MQ=58.73;MQ0=0;QD=28.02;VQSLOD=7.9862;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:96:99:2723,211,0 1 110300441 110300441 G A exonic EPS8L3 nonsynonymous SNV EPS8L3:NM_001319952:exon9:c.C778T:p.H260Y,EPS8L3:NM_024526:exon10:c.C877T:p.H293Y,EPS8L3:NM_133181:exon10:c.C877T:p.H293Y,EPS8L3:NM_139053:exon10:c.C880T:p.H294Y 0.47 0.16 0.44 0.79 0.47 0.6 0.4843 0.2158 0.4225 0.7775 0.4062 0.4853 0.4591 0.5720 0.4 0.23 0.49 0.35 0.41 rs3818562 COSM3747492 1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.031 T 0.0 0.026 B 0.0 0.013 B 0.002 0.364 N 1 0.090 P -1.21 0.008 N 2.76 0.571 T 1.5 0.010 N 0.029 0.147 -0.962 0.387 T 0.012 0.046 T . . . 0.533 0.145 7.679 0.797 0.124 0.024 0.068 N c -0.976 -0.695 0.861 0.252 0.428 0.059 0 2.69 0.308 1.322 0.331 0.244 0.267 1.000 0.715 0.998 0.697 8.934 0.347 . ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6|ENSG00000241720.2|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6|ENSG00000134202.6|ENSG00000134202.6 Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Thyroid|Whole_Blood 0.4850 0.2121 0.4271 0.4956 0.7748 0.4026 0.4871 0.4619 0.5745 0.4224 0.2206 0.3950 0.4967 0.7763 0.4110 0.5012 0.4723 hom 4340.92 149 1 110300441 . G A 4340.92 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=29.13;VQSLOD=8.7277;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4340,346,0 1 110301260 110301260 C T exonic EPS8L3 nonsynonymous SNV EPS8L3:NM_001319952:exon6:c.G388A:p.G130S,EPS8L3:NM_024526:exon7:c.G487A:p.G163S,EPS8L3:NM_133181:exon7:c.G487A:p.G163S,EPS8L3:NM_139053:exon7:c.G490A:p.G164S 0.32 0.72 0.22 0.056 0.19 0.23 0.2489 0.6380 0.2225 0.0447 0.2029 0.2200 0.2138 0.2662 0.35 0.61 0.22 0.35 0.22 rs6693815 . . . . . . . . . . . . . 0.563 0.111 T 0.003 0.154 B 0.001 0.093 B 0.085 0.024 N 1 0.090 P 1.175 0.300 L 2.6 0.596 T -0.49 0.156 N 0.043 0.039 -1.078 0.077 T 0.018 0.076 T . . . 0.756 0.166 9.190 0.897 0.185 0.014 0.047 N c -1.251 -1.198 0.833 0.247 0.428 0.059 0 -2.18 0.066 -1.568 0.022 -0.032 0.126 0.000 0.063 0.084 0.183 1.328 0.020 . ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6|ENSG00000241720.2|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Thyroid|Thyroid|Whole_Blood 0.2391 0.6429 0.2349 0.2158 0.0443 0.2051 0.2209 0.2178 0.2461 0.3303 0.6426 0.2488 0.1755 0.0377 0.2065 0.2212 0.2607 hom 3410.43 108 1 110301260 . C T 3410.43 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5275;MQ=59.05;MQ0=0;QD=31.58;VQSLOD=9.0382;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3410,268,0 1 110466338 110466338 C A exonic CSF1 synonymous SNV CSF1:NM_000757:exon6:c.C1095A:p.T365T,CSF1:NM_172212:exon6:c.C1095A:p.T365T 0.43 0.11 0.57 0.4 0.62 0.6 0.5573 0.1826 0.6141 0.4316 0.6404 0.6019 0.5893 0.6048 0.46 0.19 0.6 0.4 0.58 rs333970 COSM3750219;COSM3750220 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5682 0.1810 0.6083 0.5416 0.4340 0.6429 0.6078 0.5865 0.6005 0.4853 0.1885 0.6283 0.5867 0.4414 0.6333 0.6129 0.5727 hom 3985.81 122 1 110466338 . C A 3985.81 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.335;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4025;MQ=58.67;MQ0=0;MQRankSum=-0.852;QD=32.67;ReadPosRankSum=-1.505;VQSLOD=8.2965;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,121:122:99:3951,282,0 1 110466709 110466709 T C exonic CSF1 nonsynonymous SNV CSF1:NM_000757:exon6:c.T1466C:p.F489S,CSF1:NM_172211:exon6:c.T572C:p.F191S,CSF1:NM_172212:exon6:c.T1466C:p.F489S,CSF1:NM_172210:exon7:c.T1118C:p.F373S 1. 0.99 1. 1. 1. 1. 0.9991 0.9902 0.9998 1 1 1.0000 0.9989 1 1. 0.99 1. 0.97 0.92 rs333971 . . . . . . . . . . . . . 1.0 0.055 T 0.0 0.090 B 0.0 0.040 B 0.090 0.204 N 1 0.090 P -1.39 0.006 N 2.96 0.096 T 2.32 0.003 N 0.124 0.140 -0.915 0.463 T 0.002 0.006 T . . . -0.434 0.059 0.319 0.313 0.017 0.007 0.029 N c -1.468 -1.303 1.000 0.517 0.707 0.730 0 4.57 0.557 -0.104 0.108 0.040 0.155 0.000 0.063 0.000 0.016 9.415 0.375 . . . 0.9992 0.9895 0.9993 1 1 1 1.0000 0.9995 1 0.9970 0.9896 1 1 1 1 1 0.9990 hom 3848.45 117 1 110466709 . T C 3848.45 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;QD=32.89;VQSLOD=9.3094;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3848,298,0 1 110738296 110738296 G A exonic SLC6A17 synonymous SNV SLC6A17:NM_001010898:exon10:c.G1581A:p.S527S 0.29 0.044 0.38 0.3 0.45 0.37 0.4141 0.0999 0.3123 0.2750 0.5124 0.4943 0.4148 0.3924 0.37 0.11 0.5 0.3 0.5 rs2784140 COSM146574 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4178 0.0952 0.3304 0.4343 0.2733 0.5147 0.4963 0.4321 0.3919 0.3789 0.1127 0.3461 0.4603 0.2859 0.4917 0.5119 0.4703 het 1160.37 101 1 110738296 . G A 1160.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.666;DP=101;Dels=0.00;FS=1.643;HRun=0;HaplotypeScore=7.0697;MQ=59.54;MQ0=0;MQRankSum=-1.291;QD=11.49;ReadPosRankSum=-0.767;VQSLOD=4.1188;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,47:101:99:1190,0,1360 1 110882444 110882444 A G exonic RBM15 synonymous SNV RBM15:NM_001201545:exon1:c.A417G:p.E139E,RBM15:NM_022768:exon1:c.A417G:p.E139E 0.82 0.95 0.85 0.77 0.69 0.82 0.7613 0.9305 0.8484 0.7513 0.6926 0.7222 0.7281 0.7926 0.79 0.93 0.72 0.74 0.5 rs814771 COSM3750221 1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7586 0.9316 0.8409 0.6916 0.7419 0.7006 0.7232 0.7148 0.7902 0.7926 0.9240 0.8385 0.6954 0.7301 0.6873 0.7495 0.7510 hom 907.40 29 1 110882444 . A G 907.40 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.29;VQSLOD=13.2894;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:75.21:940,75,0 1 110883569 110883569 A T exonic RBM15 synonymous SNV RBM15:NM_001201545:exon1:c.A1542T:p.P514P,RBM15:NM_022768:exon1:c.A1542T:p.P514P 0.18 0.032 0.16 0.26 0.19 0.28 0.1960 0.0532 0.1893 0.2692 0.1839 0.1938 0.1696 0.2669 0.14 0.056 0.19 0.14 0.21 rs3738752 COSM146575 1(breast);2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1966 0.0510 0.1890 0.2452 0.2660 0.1858 0.1871 0.1886 0.2669 0.1518 0.0524 0.1882 0.2583 0.2725 0.1830 0.1817 0.2041 het 1929.73 124 1 110883569 . A T 1929.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.783;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9812;MQ=59.33;MQ0=0;MQRankSum=0.697;QD=15.56;ReadPosRankSum=-1.444;VQSLOD=4.8578;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,67:124:99:1960,0,1624 1 110924353 110924353 G A exonic SLC16A4 synonymous SNV SLC16A4:NM_001201547:exon3:c.C99T:p.F33F,SLC16A4:NM_001319220:exon3:c.C99T:p.F33F,SLC16A4:NM_001201549:exon4:c.C285T:p.F95F,SLC16A4:NM_004696:exon4:c.C285T:p.F95F 0.18 0.032 0.16 0.26 0.19 0.28 0.1966 0.0535 0.1912 0.2691 0.1843 0.1945 0.1696 0.2659 0.14 0.056 0.19 0.14 0.2 rs3738750 COSM146577 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1957 0.0508 0.1876 0.2428 0.2651 0.1857 0.1865 0.1871 0.2651 0.1519 0.0524 0.1894 0.26 0.2741 0.1828 0.1817 0.2047 het 791.37 72 1 110924353 . G A 791.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.888;DP=72;Dels=0.00;FS=14.929;HRun=3;HaplotypeScore=1.9978;MQ=58.50;MQ0=0;MQRankSum=0.421;QD=10.99;ReadPosRankSum=-0.660;VQSLOD=3.8231;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,31:72:99:821,0,1119 1 110950439 110950439 C T exonic LAMTOR5 nonsynonymous SNV LAMTOR5:NM_006402:exon1:c.G50A:p.S17N 0.36 0.31 0.38 0.28 0.45 0.44 0.4359 0.3471 0.3904 0.2513 0.4779 0.4807 0.4367 0.4226 0.44 0.35 0.49 0.36 0.43 rs6674775 COSM1332599 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.0 0.912 D . . . . . . . . . 1 0.090 P . . . . . . -0.07 0.080 N 0.019 0.004 -1.006 0.281 T 0.015 0.058 T . . . 1.035 0.193 10.86 0.971 0.320 0.021 0.062 N c -0.949 -1.221 1.0 0.983 0.025 0.001 3 -4.97 0.028 -0.458 0.068 -0.267 0.087 0.000 0.063 0.000 0.016 1.919 0.031 . ENSG00000143125.5|ENSG00000270380.1|ENSG00000143125.5|ENSG00000270380.1|ENSG00000143125.5|ENSG00000270380.1|ENSG00000270380.1|ENSG00000143125.5|ENSG00000134248.9|ENSG00000224699.4|ENSG00000134248.9|ENSG00000168679.13|ENSG00000270380.1|ENSG00000143125.5 Artery_Coronary|Artery_Coronary|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid 0.4353 0.3421 0.3899 0.3215 0.2478 0.4850 0.4945 0.4299 0.4233 0.4529 0.3499 0.4002 0.3444 0.2456 0.4765 0.5345 0.4581 het 907.16 70 1 110950439 . C T 907.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.073;DP=70;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4858;MQ=60.00;MQ0=0;MQRankSum=-0.934;QD=12.96;ReadPosRankSum=0.264;VQSLOD=6.0253;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,34:70:99:937,0,1101 1 110998854 110998854 G A exonic PROK1 nonsynonymous SNV PROK1:NM_032414:exon3:c.G199A:p.V67I 0.44 0.37 0.57 0.58 0.42 0.34 0.4362 0.3707 0.6226 0.5693 0.3830 0.4171 0.4372 0.3755 0.41 0.38 0.42 0.48 0.49 rs7514102 COSM146578 1(stomach);1(thyroid) . . . . . . . . . . . 0.298 0.146 T 0.003 0.102 B 0.009 0.133 B 0.688 0.102 N 0.418 0.324 P 1.655 0.426 L -2.1 0.862 D -0.37 0.132 N 0.04 0.020 -1.067 0.100 T 0.243 0.612 T . . . -0.674 0.046 0.083 0.626 0.068 0.780 0.381 D c -1.183 -1.261 0.217 0.183 0.554 0.283 0 -7.86 0.010 0.929 0.282 -0.799 0.032 1.000 0.715 0.115 0.194 11.213 0.479 Prokineticin domain . . 0.4431 0.3627 0.6047 0.4531 0.5606 0.3931 0.4135 0.4311 0.3800 0.4097 0.3693 0.5632 0.4503 0.5558 0.3920 0.4106 0.4322 hom 4273.61 137 1 110998854 . G A 4273.61 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=31.19;VQSLOD=9.3876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4273,346,0 1 111060669 111060669 T C exonic KCNA10 synonymous SNV KCNA10:NM_005549:exon1:c.A741G:p.L247L 0.62 0.51 0.78 0.59 0.73 0.59 0.7049 0.5580 0.8245 0.5743 0.6972 0.7462 0.6894 0.6192 0.67 0.56 0.73 0.66 0.76 rs1281175 COSM3996740 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7103 0.5534 0.8206 0.7398 0.5762 0.6955 0.7441 0.7268 0.6190 0.6765 0.5556 0.7806 0.7219 0.5619 0.7148 0.7399 0.7253 het 1973 167 1 111060669 . T C 1973 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.131;DP=167;DS;Dels=0.00;FS=6.271;HRun=0;HaplotypeScore=4.3535;MQ=59.72;MQ0=0;MQRankSum=-0.227;QD=11.81;ReadPosRankSum=-1.883;VQSLOD=3.9873;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,73:167:99:2003,0,2598 1 111061011 111061011 C A exonic KCNA10 synonymous SNV KCNA10:NM_005549:exon1:c.G399T:p.R133R 0.18 0.19 0.25 0.17 0.2 0.12 0.2117 0.1921 0.2426 0.1668 0.2122 0.2265 0.2031 0.1663 0.21 0.19 0.22 0.24 0.31 rs3748731 COSM3750223 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2115 0.1870 0.2377 0.2790 0.1635 0.2054 0.2207 0.2276 0.1688 0.2023 0.1887 0.2100 0.2583 0.1681 0.2095 0.2093 0.2230 het 1116.31 81 1 111061011 . C A 1116.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.873;DP=81;Dels=0.00;FS=1.845;HRun=0;HaplotypeScore=1.9963;MQ=58.76;MQ0=0;MQRankSum=1.996;QD=13.78;ReadPosRankSum=-0.014;VQSLOD=6.0275;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,44:81:99:1146,0,998 1 111061062 111061062 T C exonic KCNA10 synonymous SNV KCNA10:NM_005549:exon1:c.A348G:p.E116E 0.62 0.51 0.78 0.59 0.73 0.59 0.7050 0.5585 0.8247 0.5743 0.6967 0.7461 0.6894 0.6194 0.67 0.56 0.73 0.66 0.76 rs1281174 COSM5021286 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7103 0.5533 0.8206 0.7399 0.5764 0.6953 0.7440 0.7265 0.6192 0.6762 0.5555 0.7799 0.7219 0.5613 0.7156 0.7399 0.7220 het 1300.13 103 1 111061062 . T C 1300.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.494;DP=103;Dels=0.00;FS=4.950;HRun=0;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;MQRankSum=1.224;QD=12.62;ReadPosRankSum=0.425;VQSLOD=6.0550;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,52:103:99:1330,0,1331 1 111726869 111726869 G A exonic CEPT1 synonymous SNV CEPT1:NM_001007794:exon9:c.G1188A:p.A396A,CEPT1:NM_001330743:exon9:c.G1188A:p.A396A,CEPT1:NM_006090:exon9:c.G1188A:p.A396A 0.19 0.026 0.18 0.33 0.28 0.18 0.2421 0.0640 0.1677 0.3625 0.3357 0.2731 0.2489 0.1802 0.21 0.073 0.27 0.14 0.23 rs3795823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2447 0.0599 0.1668 0.2244 0.3680 0.3441 0.2741 0.2425 0.1804 0.2316 0.0657 0.1998 0.2450 0.3618 0.3396 0.2871 0.2822 het 1383.80 130 1 111726869 . G A 1383.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.150;DP=130;Dels=0.00;FS=5.540;HRun=0;HaplotypeScore=1.9983;MQ=58.42;MQ0=0;MQRankSum=-1.089;QD=10.64;ReadPosRankSum=-1.450;VQSLOD=4.4208;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,57:130:99:1414,0,1743 1 111783982 111783982 C A exonic CHI3L2 synonymous SNV CHI3L2:NM_001025197:exon8:c.C922A:p.R308R,CHI3L2:NM_001025199:exon8:c.C715A:p.R239R,CHI3L2:NM_004000:exon9:c.C952A:p.R318R 0.19 0.051 0.17 0.2 0.33 0.24 0.2761 0.0909 0.1355 0.1875 0.3351 0.3450 0.3227 0.2330 0.23 0.1 0.3 0.16 0.24 rs13721 COSM3996742 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454935.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2729 0.0886 0.1510 0.3333 0.1878 0.3343 0.3409 0.3040 0.2293 0.2633 0.0985 0.1854 0.3311 0.2138 0.3291 0.3490 0.3152 hom 2290.97 144 1 111783982 . C A 2290.97 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.98;MQ0=0;QD=15.91;VQSLOD=6.5768;culprit=QD;set=variant GT:AD:DP:GQ:PL 1/1:0,74:144:99:2324,181,0 1 111783996 111783996 A G exonic CHI3L2 synonymous SNV CHI3L2:NM_001025197:exon8:c.A936G:p.Q312Q,CHI3L2:NM_001025199:exon8:c.A729G:p.Q243Q,CHI3L2:NM_004000:exon9:c.A966G:p.Q322Q 1. 1. 1. 1. 1. 1. 0.9998 0.9982 0.9999 1 1 1 1 1 1. 1. 1. 1. 1. rs2494007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9979 0.9999 1 1 1 1 1 1 0.9990 0.9966 1 1 1 1 1 1 hom 4366.11 135 1 111783996 . A G 4366.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.706;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=57.99;MQ0=0;MQRankSum=-0.372;QD=32.34;ReadPosRankSum=0.475;VQSLOD=8.2708;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,134:135:99:4366,337,0 1 111854889 111854889 A G exonic CHIA nonsynonymous SNV CHIA:NM_201653:exon4:c.A133G:p.N45D 0.11 0.21 0.084 . 0.11 0.097 0.1069 0.1961 0.0826 0.0002 0.0699 0.1188 0.1056 0.0933 0.14 0.19 0.12 0.12 0.15 rs41282492 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.01 0.139 B 0.160 0.177 N 1.000 0.419 P 0.225 0.096 N 3.58 0.046 T 0.23 0.046 N 0.01 0.007 -0.933 0.437 T 0.002 0.007 T . . . -1.176 0.026 0.007 0.346 0.021 0.008 0.032 N c -1.581 -1.557 0.001 0.082 0.487 0.133 0 -2.92 0.052 0.204 0.170 -0.753 0.034 0.006 0.172 0.318 0.240 13.483 0.606 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000173947.9 Muscle_Skeletal 0.1052 0.1950 0.0834 0.1758 0.0001 0.0705 0.1191 0.1131 0.0942 0.1248 0.1988 0.0931 0.1788 0 0.0756 0.1098 0.0888 het 2086.18 202 1 111854889 . A G 2086.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.619;DP=202;Dels=0.00;FS=5.033;HRun=0;HaplotypeScore=7.0443;MQ=58.94;MQ0=0;MQRankSum=2.042;QD=10.33;ReadPosRankSum=0.094;VQSLOD=3.5292;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,87:202:99:2116,0,3148 1 111854895 111854895 G A exonic CHIA nonsynonymous SNV CHIA:NM_201653:exon4:c.G139A:p.D47N 0.11 0.21 0.082 . 0.11 0.097 0.1070 0.1911 0.0833 0.0005 0.0699 0.1196 0.1056 0.0933 0.14 0.18 0.12 0.12 0.15 rs41282494 . . . . . . . . . . . . . 0.042 0.416 D 0.944 0.512 P 0.504 0.459 P 0.001 0.392 N 0.902 0.810 P 2.305 0.662 M 3.29 0.065 T -3.95 0.734 D 0.062 0.129 -0.995 0.313 T 0.012 0.047 T . . . 5.412 0.734 26.0 0.998 0.884 0.950 0.628 D c 0.098 0.071 0.070 0.155 0.487 0.133 0 3.22 0.359 4.178 0.578 0.136 0.221 1.000 0.715 0.535 0.277 9.990 0.408 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000173947.9 Muscle_Skeletal 0.1055 0.1894 0.0838 0.1868 0.0003 0.0706 0.1193 0.1139 0.0942 0.1237 0.1936 0.0931 0.1887 0 0.0756 0.1101 0.0900 het 2352.47 205 1 111854895 . G A 2352.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.506;DP=205;Dels=0.00;FS=3.228;HRun=1;HaplotypeScore=5.8384;MQ=59.07;MQ0=0;MQRankSum=2.715;QD=11.48;ReadPosRankSum=-0.500;VQSLOD=3.3570;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:115,90:205:99:2382,0,2824 1 111854938 111854938 G T exonic CHIA nonsynonymous SNV CHIA:NM_201653:exon4:c.G182T:p.R61M 0.11 0.21 0.082 . 0.11 0.097 0.1066 0.1912 0.0826 0.0002 0.0705 0.1189 0.1058 0.0933 0.14 0.18 0.12 0.12 0.15 rs41282496 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.700 0.810 P -3.325 0.000 N 3.51 0.050 T 4.45 0.000 N 0.078 0.157 -0.962 0.388 T 0.001 0.003 T . . . 0.261 0.119 5.309 0.202 0.007 0.034 0.083 N c -1.085 -0.755 0.320 0.194 0.487 0.133 0 4.93 0.643 5.478 0.663 0.152 0.238 1.000 0.715 0.534 0.277 10.441 0.435 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000173947.9 Muscle_Skeletal 0.1049 0.1895 0.0833 0.1760 0.0001 0.0706 0.1192 0.1131 0.0942 0.1237 0.1941 0.0931 0.18 0 0.0757 0.1101 0.0888 het 2723.54 249 1 111854938 . G T 2723.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.430;DP=249;DS;Dels=0.00;FS=2.203;HRun=0;HaplotypeScore=5.7799;MQ=58.73;MQ0=0;MQRankSum=1.232;QD=10.94;ReadPosRankSum=0.089;VQSLOD=4.4064;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:141,106:249:99:2754,0,3774 1 111861822 111861822 G A exonic CHIA synonymous SNV CHIA:NM_001258002:exon6:c.G513A:p.V171V,CHIA:NM_021797:exon7:c.G672A:p.V224V,CHIA:NM_001040623:exon8:c.G513A:p.V171V,CHIA:NM_001258003:exon8:c.G672A:p.V224V,CHIA:NM_001258001:exon9:c.G672A:p.V224V,CHIA:NM_001258005:exon9:c.G513A:p.V171V,CHIA:NM_001258004:exon10:c.G513A:p.V171V,CHIA:NM_201653:exon10:c.G996A:p.V332V 0.075 0.089 0.073 . 0.11 0.097 0.0979 0.0935 0.0787 0.0002 0.0702 0.1184 0.1013 0.0931 0.11 0.098 0.12 0.054 0.15 rs17027410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0978 0.0923 0.0789 0.1754 0.0001 0.0706 0.1185 0.1086 0.0937 0.0957 0.0981 0.0837 0.1788 0 0.0756 0.1093 0.0815 het 1333.98 129 1 111861822 . G A 1333.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.212;DP=129;Dels=0.00;FS=2.391;HRun=0;HaplotypeScore=5.4086;MQ=59.19;MQ0=0;MQRankSum=0.515;QD=10.34;ReadPosRankSum=0.902;VQSLOD=5.2074;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,53:129:99:1364,0,2122 1 111861841 111861841 A G exonic CHIA nonsynonymous SNV CHIA:NM_001258002:exon6:c.A532G:p.I178V,CHIA:NM_021797:exon7:c.A691G:p.I231V,CHIA:NM_001040623:exon8:c.A532G:p.I178V,CHIA:NM_001258003:exon8:c.A691G:p.I231V,CHIA:NM_001258001:exon9:c.A691G:p.I231V,CHIA:NM_001258005:exon9:c.A532G:p.I178V,CHIA:NM_001258004:exon10:c.A532G:p.I178V,CHIA:NM_201653:exon10:c.A1015G:p.I339V 0.66 0.8 0.43 0.48 0.71 0.77 0.6554 0.7777 0.3255 0.4476 0.6445 0.6960 0.6608 0.7581 0.72 0.77 0.7 0.71 0.75 rs2275253 COSM1179735;COSM1179734 1(prostate) . . . . . . . . . . . 0.752 0.036 T 0.0 0.026 B 0.001 0.040 B 0.396 0.045 N 1 0.090 P -0.5 0.026 N 3.55 0.048 T 0.42 0.034 N 0.02 0.213 -0.904 0.475 T 0.002 0.005 T . . . -1.557 0.016 0.002 0.698 0.088 0.007 0.031 N c -1.531 -1.507 0.325 0.194 0.497 0.185 0 -3.21 0.048 -0.443 0.069 0.138 0.222 0.000 0.063 0.210 0.219 8.042 0.295 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily;Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000134216.14 Adipose_Subcutaneous 0.6402 0.7783 0.3471 0.7070 0.4529 0.6384 0.7003 0.6443 0.7577 0.6933 0.7805 0.4308 0.6954 0.4469 0.6499 0.6977 0.6354 hom 3925.06 135 1 111861841 . A G 3925.06 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.23;MQ0=0;QD=29.07;VQSLOD=8.6079;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:3924,319,0 1 111861974 111861974 T C exonic CHIA nonsynonymous SNV CHIA:NM_001258002:exon7:c.T578C:p.F193S,CHIA:NM_021797:exon8:c.T737C:p.F246S,CHIA:NM_001040623:exon9:c.T578C:p.F193S,CHIA:NM_001258003:exon9:c.T737C:p.F246S,CHIA:NM_001258001:exon10:c.T737C:p.F246S,CHIA:NM_001258005:exon10:c.T578C:p.F193S,CHIA:NM_001258004:exon11:c.T578C:p.F193S,CHIA:NM_201653:exon11:c.T1061C:p.F354S 0.44 0.32 0.31 0.38 0.6 0.61 0.5082 0.3437 0.2615 0.3459 0.5468 0.5734 0.5277 0.5899 0.5 0.35 0.58 0.37 0.57 rs2275254 COSM3996745;COSM3996744 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.023 0.518 D 1.0 0.899 D 0.997 0.850 D 0.099 0.199 N 0.215 0.343 P 3.11 0.880 M 3.4 0.057 T -5.59 0.867 D 0.241 0.569 -1.055 0.129 T 0.046 0.198 T . . . 4.984 0.670 25.1 0.998 0.902 0.906 0.516 D c 0.461 0.297 0.774 0.237 0.497 0.185 0 3.8 0.427 2.757 0.470 1.061 0.807 1.000 0.715 0.967 0.454 9.355 0.371 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain . . 0.5024 0.3349 0.2783 0.6220 0.3475 0.5403 0.5746 0.5212 0.5856 0.4859 0.3504 0.3437 0.6159 0.3397 0.5456 0.5690 0.5319 hom 2925.14 94 1 111861974 . T C 2925.14 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8923;MQ=59.75;MQ0=0;QD=31.12;VQSLOD=8.6765;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2958,229,0 1 111862078 111862078 C T exonic CHIA synonymous SNV CHIA:NM_001258002:exon7:c.C682T:p.L228L,CHIA:NM_021797:exon8:c.C841T:p.L281L,CHIA:NM_001040623:exon9:c.C682T:p.L228L,CHIA:NM_001258003:exon9:c.C841T:p.L281L,CHIA:NM_001258001:exon10:c.C841T:p.L281L,CHIA:NM_001258005:exon10:c.C682T:p.L228L,CHIA:NM_001258004:exon11:c.C682T:p.L228L,CHIA:NM_201653:exon11:c.C1165T:p.L389L 0.1 0.19 0.082 . 0.11 0.097 0.1052 0.1732 0.0814 0.0002 0.0702 0.1189 0.1033 0.0934 0.14 0.17 0.12 0.11 0.12 rs12094378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1030 0.1692 0.0821 0.1752 0.0001 0.0704 0.1185 0.1112 0.0940 0.1166 0.1704 0.0931 0.1788 0 0.0753 0.1096 0.0859 het 1300.29 88 1 111862078 . C T 1300.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.426;DP=88;Dels=0.00;FS=1.885;HRun=1;HaplotypeScore=3.3635;MQ=59.08;MQ0=0;MQRankSum=0.038;QD=14.78;ReadPosRankSum=-1.018;VQSLOD=6.1404;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,48:88:99:1330,0,1091 1 111862952 111862952 T G exonic CHIA nonsynonymous SNV CHIA:NM_001258002:exon8:c.T812G:p.V271G,CHIA:NM_021797:exon9:c.T971G:p.V324G,CHIA:NM_001040623:exon10:c.T812G:p.V271G,CHIA:NM_001258003:exon10:c.T971G:p.V324G,CHIA:NM_001258001:exon11:c.T971G:p.V324G,CHIA:NM_001258005:exon11:c.T812G:p.V271G,CHIA:NM_001258004:exon12:c.T812G:p.V271G,CHIA:NM_201653:exon12:c.T1295G:p.V432G 0.66 0.79 0.42 0.48 0.71 0.77 0.6552 0.7718 0.3246 0.4492 0.6452 0.6963 0.6623 0.7588 0.72 0.77 0.7 0.69 0.72 rs2256721 COSM3750231;COSM3750230 1(bone);1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.457 N 0.520 0.316 P -3.04 0.000 N 1.79 0.255 T 4.72 0.000 N 0.033 0.562 -0.960 0.392 T 0.002 0.006 T . . . 0.502 0.142 7.447 0.799 0.125 0.014 0.047 N c -1.265 -1.003 0.994 0.336 0.497 0.185 0 1.49 0.219 2.285 0.429 -0.308 0.079 1.000 0.715 0.295 0.236 4.952 0.133 Chitin binding domain;Chitinase II|Chitinase insertion domain|Glycoside hydrolase family 18\x2c catalytic domain ENSG00000134216.14 Adipose_Subcutaneous 0.6399 0.7729 0.3461 0.7060 0.4538 0.6386 0.7006 0.6440 0.7581 0.6925 0.7773 0.4318 0.6954 0.4478 0.6499 0.6976 0.6365 hom 3015.50 88 1 111862952 . T G 3015.50 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.29;MQ0=0;QD=34.27;VQSLOD=9.3142;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:88:99:3049,241,0 1 111891192 111891192 C A exonic PIFO nonsynonymous SNV PIFO:NM_001300831:exon3:c.C214A:p.H72N,PIFO:NM_181643:exon4:c.C313A:p.H105N 0.083 0.11 0.079 . 0.12 0.097 0.1037 0.1090 0.0808 0.0002 0.0593 0.1264 0.1106 0.0963 0.12 0.11 0.13 0.076 0.15 rs2184884 . . . . . . . . . . . . . 0.306 0.176 T 0.763 0.417 P 0.288 0.389 B 0.775 0.066 N 1 0.090 P 1.955 0.530 M 1.95 0.307 T -2.86 0.651 D 0.025 0.047 -1.030 0.204 T 0.027 0.114 T . . . 0.516 0.143 7.551 0.749 0.105 0.015 0.050 N c -0.670 -0.851 0.308 0.193 0.615 0.372 0 -1.47 0.083 -0.812 0.046 0.935 0.490 0.001 0.137 0.930 0.404 0.338 0.003 . . . 0.1007 0.1064 0.0781 0.1736 0.0001 0.0620 0.1256 0.1126 0.0916 0.1023 0.1101 0.0907 0.1755 0 0.0662 0.1174 0.0857 het 2714.10 250 1 111891192 . C A 2714.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.563;DP=250;DS;Dels=0.00;FS=1.678;HRun=5;HaplotypeScore=4.4703;MQ=59.14;MQ0=0;MQRankSum=0.789;QD=10.86;ReadPosRankSum=-0.089;VQSLOD=5.9795;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:148,102:250:99:2744,0,4293 1 112042632 112042632 A G exonic ADORA3 synonymous SNV ADORA3:NM_000677:exon2:c.T897C:p.A299A,ADORA3:NM_001302679:exon2:c.T462C:p.A154A 0.77 0.74 0.86 0.76 0.83 0.72 0.8065 0.7378 0.8505 0.7683 0.8510 0.8195 0.8293 0.7677 0.79 0.74 0.81 0.84 0.89 rs2229155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8098 0.7375 0.8470 0.8480 0.7669 0.8432 0.8162 0.8273 0.7664 0.7900 0.7504 0.8453 0.8642 0.7772 0.8405 0.7963 0.8157 hom 2796.60 92 1 112042632 . A G 2796.60 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9330;MQ=59.92;MQ0=0;QD=30.40;VQSLOD=8.0331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2830,214,0 1 112042787 112042787 T G exonic ADORA3 nonsynonymous SNV ADORA3:NM_000677:exon2:c.A742C:p.I248L,ADORA3:NM_001302679:exon2:c.A307C:p.I103L 0.059 0.063 0.084 0.001 0.14 0.015 0.0947 0.0585 0.0616 0.0002 0.0782 0.1349 0.1162 0.0333 0.11 0.058 0.14 0.033 0.16 rs35511654 . . . . . . . . . . . . . 0.006 0.614 D 0.993 0.637 D 0.928 0.645 D . . . 0.212 0.810 P 0.96 0.240 L -0.84 0.743 T -1.74 0.412 N 0.231 0.283 -0.494 0.689 T 0.301 0.672 T . . . 1.816 0.279 15.08 0.990 0.506 0.970 0.720 D c 0.276 0.239 1.000 0.747 0.516 0.203 0 3.86 0.435 3.206 0.506 0.964 0.580 1.000 0.715 0.983 0.502 10.992 0.466 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0943 0.0571 0.0653 0.1589 0.0002 0.0799 0.1364 0.1129 0.0313 0.0911 0.0617 0.0704 0.1589 0 0.0781 0.1206 0.0937 het 1786.17 108 1 112042787 . T G 1786.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.099;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8332;MQ=59.21;MQ0=0;MQRankSum=-0.129;QD=16.54;ReadPosRankSum=1.182;VQSLOD=5.7809;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,66:108:99:1816,0,991 1 112269872 112269872 G A exonic FAM212B synonymous SNV FAM212B:NM_019099:exon2:c.C612T:p.F204F,FAM212B:NM_198926:exon2:c.C567T:p.F189F 0.86 0.96 0.75 0.83 0.82 0.89 0.8237 0.9382 0.6966 0.8253 0.8070 0.8176 0.8062 0.8724 0.86 0.93 0.82 0.84 0.78 rs197434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8170 0.9413 0.7110 0.7605 0.8297 0.8092 0.8216 0.8151 0.8708 0.8444 0.9371 0.7620 0.8079 0.8335 0.8019 0.8084 0.8190 hom 3366.53 105 1 112269872 . G A 3366.53 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2173;MQ=59.42;MQ0=0;QD=32.06;VQSLOD=7.0839;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3366,271,0 1 112298582 112298582 A G exonic DDX20 synonymous SNV DDX20:NM_007204:exon1:c.A36G:p.A12A 0.24 0.57 0.15 0.037 0.2 0.13 0.2050 0.5141 0.0866 0.0426 0.2431 0.2090 0.1808 0.1780 0.27 0.44 0.19 0.23 0.15 rs197392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1840 0.5012 0.0922 0.1386 0.0417 0.2253 0.2002 0.1680 0.1461 0.2776 0.4845 0.1348 0.1159 0.0444 0.2321 0.2093 0.2071 hom 748.36 27 1 112298582 . A G 748.36 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.18;MQ0=0;QD=27.72;VQSLOD=7.9687;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:63.18:781,63,0 1 112308953 112308953 T C exonic DDX20 nonsynonymous SNV DDX20:NM_007204:exon11:c.T1907C:p.I636T 0.47 0.72 0.51 0.34 0.42 0.31 0.4271 0.6796 0.5482 0.3512 0.4558 0.3966 0.4031 0.3359 0.48 0.67 0.39 0.48 0.39 rs197412 COSM4142147 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.652 0.079 T 0.0 0.026 B 0.0 0.013 B 0.011 0.013 N 1 0.090 P -1.79 0.003 N 1.47 0.320 T 0.49 0.030 N 0.019 0.031 -0.985 0.338 T 0.009 0.031 T . . . -1.833 0.010 0.002 0.682 0.083 0.118 0.167 N c -1.022 -0.839 0.944 0.275 0.707 0.730 0 3.86 0.435 1.933 0.395 -0.339 0.072 0.754 0.289 0.195 0.216 5.181 0.144 . ENSG00000227811.2 Thyroid 0.4258 0.6882 0.5321 0.3564 0.3459 0.4518 0.3963 0.4120 0.3374 0.4899 0.6753 0.4857 0.3 0.3412 0.4725 0.4114 0.4086 hom 948.04 28 1 112308953 . T C 948.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.238;DP=28;Dels=0.00;FS=3.522;HRun=0;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=-0.867;QD=33.86;ReadPosRankSum=0.495;VQSLOD=4.8777;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,27:28:49:981,49,0 1 112308972 112308972 G A exonic DDX20 synonymous SNV DDX20:NM_007204:exon11:c.G1926A:p.V642V 0.48 0.74 0.51 0.34 0.42 0.31 0.4274 0.6898 0.5480 0.3510 0.4556 0.3958 0.4031 0.3358 0.49 0.68 0.39 0.48 0.39 rs197413 COSM3721436 1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4262 0.6987 0.5325 0.3566 0.3457 0.4513 0.3957 0.4114 0.3373 0.4922 0.6851 0.4857 0.3 0.34 0.4719 0.4106 0.4088 hom 1179.76 40 1 112308972 . G A 1179.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.733;DP=40;Dels=0.00;FS=3.233;HRun=0;HaplotypeScore=2.8649;MQ=60.00;MQ0=0;MQRankSum=-0.173;QD=29.49;ReadPosRankSum=-1.386;VQSLOD=4.0319;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,39:40:66.74:1213,67,0 1 112991698 112991698 T C exonic CTTNBP2NL synonymous SNV CTTNBP2NL:NM_018704:exon4:c.T234C:p.N78N 0.53 0.32 0.57 0.45 0.66 0.71 0.5987 0.3803 0.5277 0.4277 0.5768 0.6413 0.5982 0.7117 0.56 0.39 0.65 0.49 0.68 rs2256883 COSM146582 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5969 0.3767 0.5313 0.6379 0.4285 0.5686 0.6445 0.5801 0.7096 0.5359 0.3734 0.5501 0.6291 0.4422 0.5626 0.6267 0.6135 hom 2115.39 71 1 112991698 . T C 2115.39 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6642;MQ=57.95;MQ0=0;QD=29.79;VQSLOD=7.5734;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2148,165,0 1 112999227 112999227 G A exonic CTTNBP2NL synonymous SNV CTTNBP2NL:NM_018704:exon6:c.G1113A:p.Q371Q 0.94 0.96 0.94 1. 0.86 0.94 0.8917 0.9382 0.9567 0.9984 0.8592 0.8520 0.8910 0.9344 0.88 0.93 0.86 0.95 0.84 rs1175641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8942 0.9361 0.9522 0.8803 0.9984 0.8586 0.8529 0.8864 0.9332 0.8806 0.9269 0.9414 0.8940 0.9994 0.8511 0.8439 0.8829 hom 6277.94 182 1 112999227 . G A 6277.94 Mask AC=2;AF=1.00;AN=2;DP=182;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8426;MQ=59.54;MQ0=0;QD=34.49;VQSLOD=7.7713;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:6277,491,0 1 113255389 113255389 C T exonic PPM1J nonsynonymous SNV PPM1J:NM_005167:exon3:c.G706A:p.V236I 0.97 0.88 0.99 1. 1. 1. 0.9897 0.8894 0.9952 1 1 0.9995 0.9934 0.9996 0.96 0.89 1. 0.97 1. rs10857971 . . . . . . . . . . . . . 0.554 0.065 T 0.0 0.090 B 0.0 0.040 B 0.000 0.843 N 1.000 0.186 P -1.68 0.004 N 2.44 0.152 T 0.81 0.018 N 0.041 0.097 -0.920 0.455 T 0.004 0.013 T . . . 1.718 0.268 14.51 0.838 0.144 0.069 0.128 N c -0.775 -0.470 1.000 0.747 0.696 0.567 0 4.72 0.591 2.090 0.411 0.154 0.240 1.000 0.715 0.999 0.750 10.051 0.412 PPM-type phosphatase domain . . 0.9917 0.8849 0.9946 0.9990 1 1 0.9996 0.9951 0.9996 0.9667 0.8842 0.9952 1 1 1 0.9996 0.9898 hom 7102.07 226 1 113255389 . C T 7102.07 Mask AC=2;AF=1.00;AN=2;DP=226;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3917;MQ=59.48;MQ0=0;QD=31.43;VQSLOD=6.5375;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:7101,560,0 1 113657092 113657092 A C exonic LRIG2 synonymous SNV LRIG2:NM_014813:exon15:c.A2124C:p.T708T,LRIG2:NM_001312686:exon16:c.A1815C:p.T605T 0.9 0.7 0.97 0.95 0.99 0.98 0.9633 0.7366 0.9815 0.9677 0.9890 0.9862 0.9857 0.9868 0.9 0.74 0.99 0.87 0.98 rs1216793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9671 0.7291 0.9784 0.9860 0.9664 0.9891 0.9849 0.9759 0.9859 0.9157 0.7413 0.9737 0.99 0.9690 0.9891 0.9855 0.9763 hom 2682.78 94 1 113657092 . A C 2682.78 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=2.5257;MQ=57.91;MQ0=0;QD=28.24;VQSLOD=7.5269;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2716,202,0 1 114377568 114377568 A G exonic PTPN22 nonsynonymous SNV PTPN22:NM_012411:exon12:c.T1693C:p.W565R,PTPN22:NM_001308297:exon13:c.T1786C:p.W596R,PTPN22:NM_001193431:exon14:c.T1858C:p.W620R,PTPN22:NM_015967:exon14:c.T1858C:p.W620R 0.97 1. 0.96 1. 0.91 0.99 0.9332 0.9864 0.9750 1 0.8553 0.9034 0.9449 0.9861 0.93 0.98 0.91 0.9 0.8 rs2476601 . . other|other|other|other|other Diabetes_mellitus\x2c_insulin-dependent\x2c_susceptibility_to|Rheumatoid_arthritis|Systemic_lupus_erythematosus\x2c_susceptibility_to|Hashimoto_thyroiditis\x2c_susceptibility_to|Addison_disease\x2c_susceptibility_to RCV000009460.2|RCV000009461.2|RCV000009462.2|RCV000009463.2|RCV000009464.2 . . Type 1 diabetes 1.98 . 17554260 rs2476601 2E-80 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.588 P . . . 4.64 0.028 T 5.1 0.000 N 0.321 0.408 -0.906 0.474 T 0.004 0.014 T . . . 1.021 0.192 10.78 0.842 0.146 0.023 0.066 N c -0.615 -0.448 0.963 0.286 0.707 0.730 0 2.7 0.309 0.807 0.266 0.076 0.183 0.986 0.359 0.992 0.562 7.516 0.266 . . . 0.9285 0.9855 0.9698 0.9486 0.9999 0.8526 0.9015 0.9287 0.9868 0.9187 0.9829 0.9702 0.9437 1 0.8509 0.8861 0.9002 hom 6732.11 231 1 114377568 . A G 6732.11 Mask AC=2;AF=1.00;AN=2;DP=231;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4950;MQ=59.61;MQ0=0;QD=29.14;VQSLOD=7.7273;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,231:231:99:6731,521,0 1 114394689 114394689 C T exonic PTPN22 nonsynonymous SNV PTPN22:NM_001308297:exon9:c.G716A:p.R239Q,PTPN22:NM_001193431:exon10:c.G788A:p.R263Q,PTPN22:NM_015967:exon10:c.G788A:p.R263Q 0.011 0.0023 0.02 . 0.026 0.012 0.0175 0.0057 0.0139 0.0005 0.0204 0.0226 0.0172 0.0146 0.016 0.0064 0.021 0.011 0.041 rs33996649 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.147 B 0.0 0.040 B 0.001 0.395 N 1 0.810 D -0.245 0.039 N -1.69 0.830 D 2.56 0.003 N 0.047 0.101 -0.969 0.374 T 0.080 0.317 T . . . 1.930 0.293 15.77 0.804 0.128 0.082 0.140 N c -0.945 -0.659 0.785 0.239 0.732 0.924 0 3.43 0.382 3.929 0.560 -0.724 0.036 1.000 0.715 0.977 0.480 13.045 0.582 PTP type protein phosphatase|Protein-tyrosine phosphatase\x2c catalytic|Protein-tyrosine phosphatase-like|Tyrosine specific protein phosphatases domain;PTP type protein phosphatase|Protein-tyrosine phosphatase-like|Tyrosine specific protein phosphatases domain . . 0.0172 0.0046 0.0146 0.0129 0.0002 0.0225 0.0227 0.0168 0.0133 0.0157 0.0050 0.0215 0.0132 0 0.0180 0.0233 0.0092 het 599.21 72 1 114394689 . C T 599.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.902;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9913;MQ=59.13;MQ0=0;MQRankSum=1.249;QD=8.32;ReadPosRankSum=1.049;VQSLOD=5.7898;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,26:72:99:629,0,1059 1 114424601 114424601 C T exonic BCL2L15 nonsynonymous SNV BCL2L15:NM_001010922:exon3:c.G268A:p.D90N 1. 1. 1. 1. 1. 1. 0.9999 0.9999 1 1 1 0.9998 1 1 1. 1. 1. 1. 1. rs1217381 . . . . . . . . . . . . . 0.644 0.049 T 0.001 0.067 B 0.002 0.063 B 1.000 0.080 N 1 0.090 P 0.46 0.130 N 3.61 0.045 T -0.5 0.158 N 0.004 0.000 -0.919 0.457 T 0.003 0.009 T . . . -0.188 0.077 1.163 0.209 0.008 0.017 0.053 N c -1.521 -1.509 0.999 0.396 0.601 0.348 0 -0.702 0.106 -1.635 0.021 -0.310 0.079 0.000 0.063 0.000 0.016 7.784 0.281 . . . 0.9999 0.9999 1.0000 1 1 1 0.9998 1 1 0.9999 1 1 1 1 1 0.9998 1 hom 1694.32 56 1 114424601 . C T 1694.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.670;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5004;MQ=57.15;MQ0=0;MQRankSum=1.052;QD=30.26;ReadPosRankSum=-0.619;VQSLOD=4.6485;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,55:56:99:1727,141,0 1 114438951 114438951 A G exonic AP4B1 nonsynonymous SNV AP4B1:NM_001308312:exon5:c.T935C:p.L312S,AP4B1:NM_001253852:exon8:c.T1439C:p.L480S,AP4B1:NM_001253853:exon9:c.T1142C:p.L381S,AP4B1:NM_006594:exon9:c.T1439C:p.L480S 0.38 0.8 0.25 0.079 0.27 0.31 0.3186 0.7180 0.1612 0.0679 0.2678 0.3204 0.3411 0.3207 0.44 0.68 0.31 0.36 0.29 rs1217401 . . other not_specified RCV000145016.2 MedGen CN169374 . . . . . . 0.382 0.196 T 0.071 0.224 B 0.111 0.300 B 0.017 0.278 N 0.005 0.424 P -0.205 0.041 N 1.85 0.245 T 0.05 0.064 N 0.246 0.358 -1.051 0.141 T 0.024 0.101 T . . . 2.804 0.398 21.4 0.993 0.596 0.932 0.573 D c -0.043 0.194 1.000 0.747 0.722 0.854 0 6.04 0.980 6.278 0.724 0.233 0.259 1.000 0.715 0.993 0.574 16.588 0.845 Armadillo-like helical|Armadillo-type fold|Clathrin/coatomer adaptor\x2c adaptin-like\x2c N-terminal ENSG00000226167.1|ENSG00000134262.8|ENSG00000134262.8|ENSG00000163349.17|ENSG00000134262.8|ENSG00000226167.1|ENSG00000134262.8|ENSG00000226167.1|ENSG00000134262.8|ENSG00000134262.8|ENSG00000226167.1|ENSG00000134262.8 Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood 0.3032 0.7218 0.1696 0.4093 0.0606 0.2724 0.3150 0.3076 0.3212 0.4044 0.702 0.2213 0.4233 0.0475 0.2639 0.3195 0.3041 hom 6860.60 227 1 114438951 . A G 6860.60 Mask AC=2;AF=1.00;AN=2;DP=227;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2408;MQ=59.57;MQ0=0;QD=30.22;VQSLOD=8.7594;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,227:227:99:6859,578,0 1 114515717 114515717 G A exonic HIPK1 synonymous SNV HIPK1:NM_181358:exon14:c.G2034A:p.A678A,HIPK1:NM_198269:exon15:c.G2094A:p.A698A,HIPK1:NM_198268:exon16:c.G3216A:p.A1072A 0.49 0.55 0.44 0.52 0.43 0.46 0.4156 0.5118 0.3546 0.4866 0.3653 0.4040 0.4284 0.4355 0.45 0.51 0.42 0.45 0.43 rs2358996 COSM5619028;COSM4142169 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4148 0.5161 0.3655 0.5144 0.4873 0.3598 0.4049 0.4037 0.4210 0.4268 0.5143 0.3645 0.46 0.4988 0.3446 0.3933 0.3799 hom 7600.76 235 1 114515717 . G A 7600.76 Mask AC=2;AF=1.00;AN=2;DP=235;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4600;MQ=59.30;MQ0=0;QD=32.34;VQSLOD=6.8476;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,234:235:99:7599,632,0 1 114948281 114948281 A G exonic TRIM33 nonsynonymous SNV TRIM33:NM_015906:exon15:c.T2519C:p.I840T,TRIM33:NM_033020:exon15:c.T2519C:p.I840T 0.86 0.98 0.8 0.58 0.94 0.93 0.8921 0.9709 0.7596 0.6074 0.9661 0.9250 0.8866 0.9223 0.94 0.97 0.93 0.89 0.95 rs6537825 COSM3735916 1(skin) . . . . . Autism 0.71 . 24189344 rs6537825 3E-8 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.090 P -1.955 0.002 N -0.55 0.711 T 2.34 0.003 N 0.075 0.278 -1.066 0.103 T 0.039 0.168 T . . . 0.726 0.163 8.995 0.298 0.016 0.200 0.207 N c -0.780 -0.504 0.901 0.260 0.707 0.730 0 4.35 0.513 3.042 0.493 0.104 0.200 1.000 0.715 0.993 0.574 10.725 0.451 . ENSG00000175984.10 Whole_Blood 0.8860 0.9722 0.7732 0.8890 0.5970 0.9648 0.9275 0.8844 0.9200 0.9250 0.9707 0.8266 0.87 0.5813 0.9674 0.9320 0.9265 hom 4629.03 141 1 114948281 . A G 4629.03 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9945;MQ=59.87;MQ0=0;QD=32.83;VQSLOD=9.3536;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4629,364,0 1 115168097 115168097 T C exonic DENND2C nonsynonymous SNV DENND2C:NM_198459:exon2:c.A509G:p.D170G,DENND2C:NM_001256404:exon4:c.A509G:p.D170G 0.13 0.02 0.18 0.087 0.29 0.1 0.2270 0.0591 0.1964 0.1053 0.2903 0.2912 0.2081 0.1315 0.22 0.072 0.3 0.12 0.25 rs12136548 COSM3735917;COSM3735918 1(pancreas);1(skin);1(large_intestine) . . . . . . . . . . . 0.412 0.114 T 0.0 0.026 B 0.0 0.013 B 0.061 0.021 N 0.953 0.264 P 0.145 0.088 N 3.78 0.414 T -0.81 0.273 N 0.01 0.012 -1.059 0.120 T 0.011 0.043 T . . . -0.130 0.082 1.520 0.874 0.166 0.166 0.193 N c -0.786 -0.608 0.006 0.111 0.554 0.246 0 -1.64 0.078 0.288 0.186 1.061 0.807 0.998 0.411 0.997 0.653 1.447 0.022 . . . 0.2269 0.0552 0.1951 0.1611 0.1028 0.2915 0.2972 0.2439 0.1335 0.2102 0.0652 0.2017 0.1623 0.1074 0.2912 0.2860 0.2459 hom 1837.37 56 1 115168097 . T C 1837.37 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=58.92;MQ0=0;QD=32.81;VQSLOD=9.7032;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1870,144,0 1 115417175 115417175 A G exonic SYCP1 nonsynonymous SNV SYCP1:NM_001282541:exon9:c.A647G:p.N216S,SYCP1:NM_001282542:exon9:c.A647G:p.N216S,SYCP1:NM_003176:exon9:c.A647G:p.N216S 0.0066 . 0.016 . 0.022 . 0.0126 0.0035 0.0068 0.0001 0.0070 0.0198 0.0132 0.0019 0.017 0.0041 0.023 . 0.025 rs61730057 . . . . . . . . . . . . . 0.374 0.117 T 0.024 0.178 B 0.033 0.210 B 0.002 0.388 N 0.999 0.216 N 1.025 0.256 L 0.57 0.544 T -1.1 0.344 N 0.006 0.005 -0.995 0.312 T 0.032 0.136 T . . . 1.359 0.227 12.57 0.983 0.398 0.634 0.318 D c -0.447 -0.283 0.000 0.038 0.487 0.133 0 2.73 0.311 1.628 0.364 0.237 0.263 1.000 0.715 0.998 0.697 6.583 0.217 . . . 0.0123 0.0028 0.0072 0.0155 0.0001 0.0075 0.0201 0.0112 0.0016 0.0109 0.0029 0.0155 0.0132 0 0.0057 0.0177 0.0092 het 2234.55 174 1 115417175 . A G 2234.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.688;DP=174;Dels=0.00;FS=2.720;HRun=0;HaplotypeScore=2.7591;MQ=58.52;MQ0=0;MQRankSum=-0.737;QD=12.84;ReadPosRankSum=-0.184;VQSLOD=5.3885;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,89:174:99:2265,0,2010 1 115576023 115576023 A G exonic TSHB nonsynonymous SNV TSHB:NM_000549:exon2:c.A40G:p.T14A 0.98 1. 0.99 1. 0.96 0.96 0.9707 0.9955 0.9929 1 0.9440 0.9645 0.9692 0.9599 0.98 0.99 0.97 0.99 0.96 rs10776792 . . Benign|Benign not_specified|Congenital_hypothyroidism RCV000242832.1|RCV000396537.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . 0.761 0.035 T 0.0 0.026 B 0.0 0.013 B 0.932 0.084 N 1 0.090 P -0.9 0.013 N 0.36 0.579 T 0.52 0.029 N 0.014 0.029 -1.039 0.176 T 0.013 0.053 T . . . -2.290 0.005 0.001 0.218 0.009 0.005 0.024 N c -1.767 -1.696 0.000 0.029 0.487 0.133 0 -1.69 0.077 0.207 0.171 -0.770 0.033 0.027 0.200 0.236 0.225 2.173 0.036 . . . 0.9710 0.9946 0.9916 0.9887 0.9999 0.9449 0.9632 0.9744 0.9612 0.9746 0.9943 0.9868 0.9934 1 0.9419 0.9681 0.9561 hom 3280 95 1 115576023 . A G 3280 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.32;MQ0=0;QD=34.53;VQSLOD=9.9057;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3280,250,0 1 115829313 115829313 G A exonic NGF nonsynonymous SNV NGF:NM_002506:exon3:c.C104T:p.A35V 0.25 0.16 0.32 0.16 0.46 0.19 0.3656 0.1881 0.3372 0.1670 0.4879 0.4453 0.3753 0.2298 0.37 0.21 0.45 0.33 0.46 rs6330 COSM3735921 7(soft_tissue);1(skin);1(large_intestine) Benign Congenital_sensory_neuropathy_with_selective_loss_of_small_myelinated_fibers RCV000268865.1 MedGen:OMIM:Orphanet:SNOMED_CT C0020075:608654:ORPHA64752:128206006 . . . . . . 0.022 0.486 D 0.002 0.090 B 0.003 0.080 B 0.137 0.184 N 0.254 0.339 P 2.785 0.815 M 0.09 0.615 T -0.68 0.195 N 0.036 0.017 -1.002 0.295 T 0.084 0.328 T . . . 2.434 0.354 19.04 0.998 0.928 0.902 0.509 D c -0.105 0.036 0.997 0.352 0.615 0.372 0 4.45 0.532 1.788 0.381 0.998 0.613 0.988 0.363 0.994 0.587 5.893 0.180 . . . 0.3702 0.1859 0.3463 0.3894 0.1628 0.4796 0.4475 0.3873 0.2347 0.3693 0.1971 0.3580 0.4437 0.1526 0.4854 0.4621 0.4134 hom 3472.79 110 1 115829313 . G A 3472.79 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.57;VQSLOD=14.0771;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3472,289,0 1 116310967 116310967 T C exonic CASQ2 nonsynonymous SNV CASQ2:NM_001232:exon1:c.A196G:p.T66A 0.4 0.49 0.37 0.52 0.29 0.3 0.3265 0.4538 0.3635 0.5483 0.2731 0.2837 0.3040 0.2999 0.34 0.44 0.29 0.47 0.29 rs4074536 COSM1332993 2(haematopoietic_and_lymphoid_tissue);6(soft_tissue) Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000037136.4|RCV000247814.1|RCV000389613.1 MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|C1631597:ORPHA3286 . . . . . . 0.943 0.022 T 0.0 0.026 B 0.0 0.013 B 0.025 0.261 N 1 0.090 P -1.7 0.004 N 1.18 0.377 T 0.49 0.030 N 0.001 0.001 -0.939 0.428 T 0.006 0.022 T . . . -1.622 0.014 0.002 0.183 0.006 0.077 0.136 N c -1.332 -1.173 0.999 0.398 0.497 0.185 0 3.44 0.383 1.629 0.365 -0.462 0.055 0.308 0.252 0.003 0.074 8.620 0.328 Thioredoxin-like fold ENSG00000118729.10|ENSG00000118729.10 Artery_Coronary|Artery_Tibial 0.3281 0.4565 0.3604 0.2596 0.5498 0.2770 0.2901 0.3256 0.3019 0.3281 0.4433 0.3513 0.2583 0.5479 0.2668 0.2547 0.2912 het 3885.43 250 1 116310967 . T C 3885.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.003;DP=250;DS;Dels=0.00;FS=5.103;HRun=0;HaplotypeScore=0.9997;MQ=59.51;MQ0=0;MQRankSum=-0.453;QD=15.54;ReadPosRankSum=-0.941;VQSLOD=5.8132;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,128:250:99:3298,0,3039 1 116534852 116534852 C T exonic SLC22A15 synonymous SNV SLC22A15:NM_018420:exon2:c.C288T:p.S96S 0.44 0.14 0.48 0.42 0.64 0.61 0.5994 0.2314 0.5207 0.4712 0.6066 0.6577 0.6051 0.6337 0.49 0.2 0.62 0.43 . rs4046190 COSM5427800;COSM5427801 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5575 0.1751 0.4725 0.6145 0.4072 0.5614 0.6338 0.5672 0.6190 0.4833 0.1955 0.5060 0.5993 0.4056 0.5638 0.6295 0.5888 het 102.86 18 1 116534852 . C T 102.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.899;DP=18;Dels=0.00;FS=2.884;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.369;QD=5.71;ReadPosRankSum=-0.264;VQSLOD=4.6704;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,6:18:99:133,0,356 1 116569530 116569530 G C exonic SLC22A15 synonymous SNV SLC22A15:NM_018420:exon5:c.G615C:p.L205L 0.9 0.85 0.87 0.87 0.95 0.98 0.9283 0.8637 0.8310 0.8953 0.8975 0.9505 0.9222 0.9750 0.93 0.88 0.95 0.83 . rs2488429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9249 0.8640 0.8346 0.9761 0.8940 0.8982 0.9516 0.9396 0.9740 0.9164 0.8665 0.8854 0.9834 0.8951 0.9012 0.9512 0.9235 hom 6858.49 220 1 116569530 . G C 6858.49 Mask AC=2;AF=1.00;AN=2;DP=220;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.41;MQ0=0;QD=31.17;VQSLOD=9.2856;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:6858,539,0 1 116655272 116655272 C T exonic MAB21L3 synonymous SNV MAB21L3:NM_152367:exon2:c.C36T:p.C12C 0.017 0.003 0.026 . 0.055 0.0082 0.0404 0.0108 0.0114 0 0.0595 0.0599 0.0396 0.0144 0.042 0.013 0.057 0.022 0.025 rs61788520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0395 0.0107 0.0139 0.0307 0 0.0594 0.0607 0.0387 0.0156 0.0464 0.0124 0.0239 0.0430 0 0.0555 0.0694 0.0617 het 385.47 65 1 116655272 . C T 385.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.594;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8398;MQ=58.41;MQ0=0;MQRankSum=0.728;QD=5.93;ReadPosRankSum=0.353;VQSLOD=3.5539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,19:65:99:415,0,1265 1 117487710 117487710 A G exonic PTGFRN synonymous SNV PTGFRN:NM_020440:exon3:c.A828G:p.P276P 0.86 0.75 0.92 0.85 0.9 0.93 0.8916 0.7868 0.9092 0.8467 0.8411 0.9063 0.8908 0.9275 0.64 0.53 0.7 . 0.92 rs10159095 COSM3750268 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8942 0.7820 0.9112 0.9237 0.8511 0.8457 0.9096 0.8927 0.9254 0.8610 0.7812 0.8849 0.9167 0.8708 0.8477 0.9056 0.8801 hom 1943.39 60 1 117487710 . A G 1943.39 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.13;MQ0=0;QD=32.39;VQSLOD=8.8598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1976,165,0 1 117487711 117487711 T A exonic PTGFRN nonsynonymous SNV PTGFRN:NM_020440:exon3:c.T829A:p.S277T 0.86 0.75 0.92 0.85 0.9 0.93 0.8916 0.7867 0.9095 0.8464 0.8410 0.9063 0.8908 0.9275 0.64 0.52 0.7 . 0.92 rs4546904 COSM3750269 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.090 P -2.28 0.001 N 3.82 0.038 T 1.76 0.005 N 0.05 0.031 -0.918 0.458 T 0.001 0.004 T . . . 1.073 0.197 11.07 0.224 0.009 0.095 0.150 N c -0.776 -0.494 0.612 0.218 0.707 0.730 0 5.49 0.809 4.223 0.581 0.181 0.247 0.998 0.411 0.906 0.385 10.223 0.422 Immunoglobulin-like domain . . 0.8942 0.7817 0.9111 0.9241 0.8511 0.8459 0.9096 0.8928 0.9254 0.8612 0.7814 0.8849 0.9167 0.8708 0.8477 0.9059 0.8793 hom 1942.37 61 1 117487711 . T A 1942.37 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.16;MQ0=0;QD=31.84;VQSLOD=8.4627;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1975,168,0 1 117554421 117554421 A G exonic CD101 nonsynonymous SNV CD101:NM_001256106:exon3:c.A674G:p.N225S,CD101:NM_001256109:exon3:c.A674G:p.N225S,CD101:NM_001256111:exon3:c.A488G:p.N163S,CD101:NM_004258:exon3:c.A674G:p.N225S 0.15 0.035 0.2 0.064 0.34 0.17 0.2482 0.0761 0.1506 0.0757 0.2931 0.3277 0.2671 0.1752 0.24 0.089 0.32 0.11 0.34 rs3754112 COSM1178399 1(pancreas);1(prostate) . . . . . . . . . . . 0.054 0.386 T 0.0 0.026 B 0.001 0.040 B 0.287 0.148 N 0.992 0.239 P -0.375 0.030 N -0.07 0.638 T -1.04 0.273 N 0.004 0.000 -1.082 0.069 T 0.038 0.165 T . . . -0.854 0.038 0.033 0.826 0.138 0.837 0.425 D c -1.070 -1.024 0.111 0.167 0.554 0.246 0 -2.28 0.064 0.905 0.279 -0.657 0.040 0.965 0.337 0.002 0.062 6.094 0.191 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.2498 0.0698 0.1576 0.4370 0.0772 0.2917 0.3226 0.2871 0.1764 0.2291 0.0781 0.2148 0.3874 0.0611 0.2871 0.3184 0.2413 hom 2148.41 70 1 117554421 . A G 2148.41 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.73;MQ0=0;QD=30.69;VQSLOD=9.1219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2181,169,0 1 117559726 117559726 A G exonic CD101 nonsynonymous SNV CD101:NM_001256106:exon5:c.A1243G:p.M415V,CD101:NM_001256109:exon5:c.A1243G:p.M415V,CD101:NM_001256111:exon5:c.A1057G:p.M353V,CD101:NM_004258:exon5:c.A1243G:p.M415V 0.94 0.97 0.96 0.85 0.96 0.94 0.9518 0.9712 0.9412 0.8401 0.9072 0.9709 0.9438 0.9463 0.98 0.97 0.98 0.92 0.96 rs2249265 COSM4415811 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.681 0.102 N 1 0.090 P -1.6 0.004 N -0.1 0.643 T 1.3 0.010 N 0.013 0.007 -1.053 0.135 T 0.011 0.039 T . . . -3.288 0.001 0.001 0.478 0.039 0.003 0.017 N c -2.239 -2.220 1.000 0.747 0.554 0.246 0 -8.2 0.009 -1.528 0.023 -2.023 0.005 0.000 0.063 0.000 0.016 1.287 0.019 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9511 0.9696 0.9472 0.9733 0.8412 0.9108 0.9742 0.9539 0.9462 0.9573 0.9718 0.9368 0.9768 0.8728 0.9118 0.9705 0.9398 hom 4946.89 170 1 117559726 . A G 4946.89 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=29.10;VQSLOD=8.9255;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:4946,409,0 1 117617705 117617705 A G exonic TTF2 nonsynonymous SNV TTF2:NM_003594:exon5:c.A499G:p.K167E 0.51 0.12 0.67 0.77 0.59 0.6 0.5755 0.1880 0.6958 0.7424 0.5256 0.5953 0.5793 0.5861 0.47 0.21 0.6 0.41 0.56 rs998532 COSM3750274 1(large_intestine) . . . . . . . . . . . 0.12 0.279 T 0.006 0.282 B 0.004 0.256 B 0.018 0.275 N 1 0.090 P 1.905 0.510 L -2.32 0.878 D -0.46 0.150 N 0.078 0.069 -0.932 0.438 T 0.224 0.588 T . . . -0.398 0.062 0.390 0.923 0.211 0.670 0.330 D c -0.735 -0.719 0.118 0.168 0.707 0.730 0 0.438 0.157 0.235 0.176 0.230 0.258 0.925 0.319 0.011 0.114 5.315 0.151 . . . 0.5865 0.1771 0.6854 0.6633 0.7487 0.5147 0.5947 0.6002 0.5862 0.4722 0.1978 0.6591 0.6821 0.7391 0.5129 0.5737 0.5514 het 1577.50 126 1 117617705 . A G 1577.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.019;DP=126;Dels=0.00;FS=2.279;HRun=1;HaplotypeScore=2.4328;MQ=59.82;MQ0=0;MQRankSum=-0.510;QD=12.52;ReadPosRankSum=0.784;VQSLOD=6.4078;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,57:126:99:1607,0,1814 1 117618067 117618067 C T exonic TTF2 synonymous SNV TTF2:NM_003594:exon5:c.C861T:p.N287N 0.51 0.11 0.67 0.77 0.59 0.6 0.5747 0.1845 0.6942 0.7417 0.5254 0.5950 0.5795 0.5855 0.47 0.2 0.6 0.41 0.52 rs1289673 COSM3750275 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5858 0.1738 0.6837 0.6632 0.7478 0.5145 0.5944 0.6004 0.5858 0.4713 0.1954 0.6567 0.6821 0.7376 0.5129 0.5739 0.5519 het 2334.90 152 1 117618067 . C T 2334.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.986;DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2762;MQ=59.08;MQ0=0;MQRankSum=0.367;QD=15.36;ReadPosRankSum=1.054;VQSLOD=5.8312;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,85:152:99:2365,0,1881 1 117635413 117635413 A G exonic TTF2 nonsynonymous SNV TTF2:NM_003594:exon18:c.A2866G:p.S956G 0.0088 . 0.0072 . 0.024 0.015 0.0173 0.0034 0.0041 0.0003 0.0278 0.0239 0.0176 0.0131 0.019 0.0036 0.026 0.022 0.016 rs80076283 . . . . . . . . . . . . . 0.14 0.256 T 0.09 0.236 B 0.021 0.181 B 0.013 0.290 N 0.590 0.324 D 2.31 0.663 M -0.96 0.756 T -2.14 0.485 N 0.042 0.022 -1.025 0.220 T 0.151 0.479 T . . . 0.900 0.180 10.07 0.987 0.445 0.831 0.420 D c -0.396 -0.365 1.000 0.747 0.731 0.878 0 1.51 0.220 2.175 0.419 1.088 0.866 1.000 0.715 0.884 0.371 6.575 0.216 . . . 0.0168 0.0041 0.0047 0.0030 0.0002 0.0291 0.0246 0.0131 0.0133 0.0209 0.0057 0.0072 0.0033 0 0.0338 0.0298 0.0244 het 2848.26 211 1 117635413 . A G 2848.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.436;DP=211;DS;Dels=0.00;FS=1.072;HRun=1;HaplotypeScore=4.6143;MQ=58.96;MQ0=0;MQRankSum=1.123;QD=13.50;ReadPosRankSum=-1.094;VQSLOD=5.3495;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,110:211:99:2878,0,2913 1 117656088 117656088 A G exonic TRIM45 nonsynonymous SNV TRIM45:NM_001145635:exon5:c.T1433C:p.M478T,TRIM45:NM_025188:exon5:c.T1487C:p.M496T 0.45 0.68 0.48 0.19 0.44 0.38 0.4145 0.6391 0.4229 0.2104 0.3705 0.4147 0.4249 0.3903 0.48 0.62 0.4 0.41 0.45 rs1289658 COSM5351791 1(kidney) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.096 0.201 N 1.000 0.090 P -1.625 0.004 N 2.08 0.394 T 0.94 0.019 N 0.024 0.396 -0.960 0.391 T 0.009 0.031 T . . . -0.229 0.074 0.952 0.184 0.006 0.030 0.077 N c -1.203 -1.034 0.998 0.364 0.646 0.442 0 3.99 0.454 0.049 0.139 0.076 0.183 0.008 0.178 0.103 0.190 3.883 0.085 Immunoglobulin E-set|Immunoglobulin-like fold ENSG00000134253.5|ENSG00000134258.12 Brain_Cerebellum|Heart_Left_Ventricle 0.4088 0.6407 0.4285 0.3638 0.2124 0.3745 0.4183 0.4061 0.3876 0.4629 0.6322 0.4222 0.37 0.2355 0.3597 0.4192 0.4303 hom 2763.49 88 1 117656088 . A G 2763.49 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;QD=31.40;VQSLOD=9.4976;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2796,229,0 1 117660754 117660754 C T exonic TRIM45 nonsynonymous SNV TRIM45:NM_001145635:exon2:c.G1124A:p.C375Y,TRIM45:NM_025188:exon2:c.G1124A:p.C375Y 0.22 0.21 0.37 0.033 0.35 0.21 0.2936 0.2257 0.3653 0.0312 0.3153 0.3395 0.3117 0.2283 0.3 0.23 0.33 0.22 0.36 rs749902 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.241 0.157 N 0.998 0.221 P 0 0.065 N -1.38 0.818 T 0.09 0.102 N 0.073 0.062 -1.099 0.042 T 0.081 0.321 T . . . -1.255 0.023 0.005 0.273 0.013 0.901 0.507 D c -1.017 -0.873 1.000 0.408 0.672 0.522 0 0.722 0.173 1.401 0.340 0.103 0.200 0.991 0.370 0.937 0.410 5.400 0.155 . ENSG00000134253.5|ENSG00000134258.12|ENSG00000134253.5 Brain_Cerebellum|Heart_Left_Ventricle|Thyroid 0.2969 0.2269 0.3697 0.2708 0.0310 0.3249 0.3417 0.3088 0.2249 0.2896 0.2333 0.3377 0.2649 0.0358 0.3057 0.3412 0.3296 hom 5320.10 177 1 117660754 . C T 5320.10 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4646;MQ=58.81;MQ0=0;MQRankSum=1.713;QD=30.06;ReadPosRankSum=1.497;VQSLOD=5.7228;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,176:177:99:5319,427,0 1 118166096 118166096 C T exonic FAM46C synonymous SNV FAM46C:NM_017709:exon2:c.C606T:p.I202I 0.13 0.016 0.22 0.11 0.16 0.22 0.1704 0.0379 0.2413 0.0886 0.1561 0.1733 0.1869 0.2395 0.13 0.048 0.17 0.13 0.11 rs2884587 COSM4415255 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1779 0.0352 0.2508 0.2108 0.0883 0.1600 0.1728 0.1827 0.2394 0.1255 0.0389 0.2064 0.1921 0.0888 0.1590 0.1635 0.1680 het 2326.64 195 1 118166096 . C T 2326.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.652;DP=195;DS;Dels=0.00;FS=2.549;HRun=1;HaplotypeScore=6.3153;MQ=59.57;MQ0=0;MQRankSum=0.320;QD=11.93;ReadPosRankSum=0.458;VQSLOD=4.9480;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,88:195:99:2357,0,2903 1 118482149 118482149 C T exonic WDR3 nonsynonymous SNV WDR3:NM_006784:exon6:c.C629T:p.A210V 0.025 0.0038 0.04 . 0.086 0.0051 0.0554 0.0133 0.0289 0 0.1044 0.0789 0.0650 0.0146 0.059 0.016 0.081 0.054 0.098 rs34973445 COSM3747505 1(pancreas);1(liver) . . . . . . . . . . . 0.101 0.303 T 0.015 0.158 B 0.051 0.240 B 0.005 0.329 N 1 0.810 D 2.785 0.815 M 0.14 0.609 T -2.11 0.480 N 0.148 0.175 -0.692 0.608 T 0.184 0.534 T . . . 3.714 0.503 23.3 0.997 0.772 0.945 0.611 D c 0.178 0.260 1.000 0.489 0.732 0.924 0 5.0 0.661 5.643 0.673 0.852 0.362 0.912 0.315 0.987 0.523 15.762 0.778 WD40 repeat\x2c conserved site|WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.0578 0.0124 0.0344 0.0567 0 0.1060 0.0814 0.0700 0.0157 0.0598 0.0135 0.0480 0.0596 0.0006 0.1040 0.0831 0.0653 het 1751.98 150 1 118482149 . C T 1751.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.510;DP=150;Dels=0.00;FS=3.003;HRun=0;HaplotypeScore=9.3991;MQ=59.66;MQ0=0;MQRankSum=0.359;QD=11.68;ReadPosRankSum=-0.591;VQSLOD=3.6119;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,76:150:99:1782,0,1715 1 118693217 118693217 T C exonic SPAG17 synonymous SNV SPAG17:NM_206996:exon3:c.A264G:p.S88S 0.23 0.013 0.35 0.4 0.24 0.24 0.2430 0.0423 0.4596 0.3825 0.2637 0.2201 0.2544 0.2246 0.16 0.049 0.22 0.25 0.17 rs1935992 COSM423590 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2512 0.0343 0.4322 0.3011 0.3710 0.2686 0.2118 0.2646 0.2190 0.1915 0.0451 0.3747 0.2848 0.3990 0.2747 0.2199 0.2398 hom 1855.82 73 1 118693217 . T C 1855.82 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.10;MQ0=0;QD=25.42;VQSLOD=7.0821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:1889,144,0 1 119923724 119923724 T C exonic HAO2 synonymous SNV HAO2:NM_016527:exon2:c.T16C:p.L6L,HAO2:NM_001005783:exon3:c.T55C:p.L19L 0.36 0.082 0.52 0.45 0.53 0.34 0.4834 0.1409 0.6231 0.4624 0.5885 0.5295 0.4570 0.3855 0.4 0.19 0.52 0.35 0.57 rs2275607 COSM3747508;COSM5426259 1(breast);2(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4923 0.1293 0.6103 0.3996 0.4635 0.5813 0.5308 0.4980 0.3854 0.4380 0.1464 0.5692 0.4333 0.4639 0.5904 0.5548 0.55 hom 7897.24 249 1 119923724 . T C 7897.24 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7825;MQ=59.50;MQ0=0;QD=31.72;VQSLOD=9.1335;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7896,611,0 1 120057158 120057158 C T exonic HSD3B1 synonymous SNV HSD3B1:NM_000862:exon4:c.C1012T:p.L338L,HSD3B1:NM_001328615:exon4:c.C1012T:p.L338L 0.37 0.033 0.48 0.65 0.43 0.38 0.4388 0.0873 0.5811 0.6688 0.5474 0.4353 0.4636 0.4103 0.32 0.1 0.43 0.32 0.46 rs6203 COSM3747510 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4522 0.0799 0.5711 0.3555 0.6737 0.5395 0.4361 0.4513 0.4100 0.3701 0.0963 0.5431 0.3841 0.6566 0.5444 0.4424 0.4602 hom 4125.05 122 1 120057158 . C T 4125.05 Mask AC=2;AF=1.00;AN=2;DP=122;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9995;MQ=58.11;MQ0=0;QD=33.81;VQSLOD=8.5323;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4124,334,0 1 120057246 120057246 C A exonic HSD3B1 nonsynonymous SNV HSD3B1:NM_000862:exon4:c.C1100A:p.T367N,HSD3B1:NM_001328615:exon4:c.C1100A:p.T367N 0.83 0.91 0.8 0.92 0.66 0.84 0.7554 0.8897 0.8599 0.9376 0.7499 0.6797 0.7322 0.8118 0.75 0.88 0.68 0.79 0.66 rs1047303 COSM3747511 1(liver);1(large_intestine) . . . . . . . . . . . 0.303 0.143 T 0.01 0.172 B 0.022 0.193 B 0.233 0.035 N 1 0.090 P 2.52 0.738 M -0.58 0.714 T -1.11 0.287 N 0.023 0.010 -1.061 0.114 T 0.151 0.479 T . . . -1.422 0.019 0.003 0.264 0.013 0.023 0.066 N c -1.379 -1.470 0.000 0.029 0.487 0.133 0 -0.043 0.131 -0.311 0.081 -2.891 0.002 0.000 0.063 0.000 0.016 4.839 0.128 . . . 0.7546 0.8936 0.8508 0.6642 0.9389 0.7426 0.6743 0.7225 0.8103 0.7697 0.8843 0.8141 0.6887 0.9312 0.7460 0.6915 0.7485 hom 1476.30 51 1 120057246 . C A 1476.30 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8924;MQ=48.85;MQ0=3;QD=28.95;VQSLOD=3.0073;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:3,48:51:99:1509,132,0 1 120166681 120166681 G A exonic ZNF697 synonymous SNV ZNF697:NM_001080470:exon3:c.C285T:p.S95S 0.67 0.79 0.59 0.78 0.5 0.64 0.5715 0.7843 0.5879 0.8096 0.5402 0.4927 0.5594 0.6407 0.58 0.76 0.49 0.67 . rs12067843 COSM3750292;COSM3750291 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5654 0.7804 0.5902 0.4607 0.8079 0.5354 0.4916 0.5296 0.6258 0.6000 0.7687 0.5742 0.46 0.8100 0.5507 0.4984 0.5479 het 828.57 68 1 120166681 . G A 828.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.319;DP=68;Dels=0.00;FS=0.924;HRun=0;HaplotypeScore=2.6490;MQ=59.11;MQ0=0;MQRankSum=2.111;QD=12.18;ReadPosRankSum=-0.515;VQSLOD=5.8115;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,33:68:99:859,0,839 1 120285546 120285546 G A exonic PHGDH synonymous SNV PHGDH:NM_006623:exon11:c.G1326A:p.T442T 0.72 0.77 0.75 0.62 0.67 0.8 0.6924 0.7533 0.6752 0.6049 0.5797 0.6808 0.7064 0.8029 0.71 0.75 0.68 0.77 0.48 rs543703 COSM3930297;COSM1747675 2(urinary_tract);1(thyroid) Benign Phosphoglycerate_dehydrogenase_deficiency RCV000331261.1 MedGen:OMIM C1866174:601815 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6901 0.7533 0.6842 0.7946 0.6033 0.5731 0.6790 0.6999 0.8040 0.6801 0.7588 0.6814 0.7980 0.5975 0.5793 0.6644 0.6786 hom 4269.02 127 1 120285546 . G A 4269.02 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9979;MQ=59.64;MQ0=0;QD=33.61;VQSLOD=9.7625;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4269,349,0 1 120378678 120378678 C T exonic NBPF7 synonymous SNV NBPF7:NM_001047980:exon7:c.G1068A:p.Q356Q 0.63 0.41 0.71 0.47 0.81 0.84 0.7508 0.4449 0.7527 0.4558 0.8238 0.8003 0.7911 0.8532 0.69 0.48 0.79 0.64 0.84 rs3009182 COSM3996786 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7530 0.4392 0.7450 0.7879 0.4584 0.8185 0.7991 0.7864 0.8506 0.6787 0.4433 0.7356 0.7881 0.4560 0.8245 0.7931 0.7837 hom 4148.69 126 1 120378678 . C T 4148.69 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8997;MQ=59.04;MQ0=0;QD=32.93;VQSLOD=9.1529;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4148,322,0 1 120384205 120384205 A G exonic NBPF7 synonymous SNV NBPF7:NM_001047980:exon3:c.T357C:p.V119V 0.62 0.4 0.71 0.47 0.81 0.84 0.7496 0.4393 0.7530 0.4575 0.8236 0.8007 0.7914 0.8530 0.68 0.45 0.79 0.087 0.84 rs2994820 COSM3996787 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7525 0.4295 0.7453 0.7883 0.4590 0.8182 0.7995 0.7860 0.8504 0.6769 0.4361 0.7327 0.7914 0.4555 0.8240 0.7938 0.7844 hom 8061.98 241 1 120384205 . A G 8061.98 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;QD=33.45;VQSLOD=8.6232;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:8061,635,0 1 120387120 120387120 G A exonic NBPF7 synonymous SNV NBPF7:NM_001047980:exon1:c.C39T:p.T13T 0.36 0.042 0.48 0.36 0.58 0.46 0.5077 0.1062 0.4610 0.3709 0.5219 0.5857 0.5509 0.5240 0.42 0.12 0.57 0.18 0.58 rs12405228 COSM4416125 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5118 0.0962 0.4696 0.6437 0.3731 0.5215 0.5835 0.5544 0.5247 0.4174 0.1157 0.4868 0.6291 0.3702 0.5206 0.5595 0.5214 hom 5800.55 172 1 120387120 . G A 5800.55 Mask AC=2;AF=1.00;AN=2;DP=172;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5564;MQ=58.95;MQ0=0;QD=33.72;VQSLOD=9.0591;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5800,445,0 1 120436787 120436787 G A exonic ADAM30 synonymous SNV ADAM30:NM_021794:exon1:c.C2173T:p.L725L . . . . . . 4.121e-05 0 8.637e-05 0 0 5.995e-05 0 0 0.0001 . 0.0001 . . rs375307271 COSM5968763 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.481e-05 0 5.977e-05 0 0 0 8.074e-05 0 0 . . . . . . . . het 1869.98 175 1 120436787 . G A 1869.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.683;DP=175;DS;Dels=0.00;FS=1.406;HRun=1;HaplotypeScore=6.8202;MQ=58.97;MQ0=0;MQRankSum=-0.107;QD=10.69;ReadPosRankSum=0.371;VQSLOD=3.1701;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,73:175:99:1900,0,2729 1 120612003 120612004 GG - exonic NOTCH2 frameshift deletion NOTCH2:NM_001200001:exon1:c.17_18del:p.P6Rfs*25,NOTCH2:NM_024408:exon1:c.17_18del:p.P6Rfs*26 . . . . . . 0.4057 0.4075 0.4190 0.3707 0.3725 0.4018 0.3892 0.4387 . . . . . rs372504208 COSM132830 3(breast);2(NS);1(haematopoietic_and_lymphoid_tissue);1(stomach);1(kidney);2(urinary_tract);1(pancreas);3(oesophagus);1(skin);1(lung);2(upper_aerodigestive_tract);2(large_intestine);2(central_nervous_system) Benign not_specified RCV000202675.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1800 0.2102 0.1169 0.1379 0.1142 0.2665 0.2152 0.1264 0.1600 0.0832 0.1426 0.0356 0.0893 0.0528 0.0095 0.0877 0.0616 het 135.54 15 1 120612002 . CGG C 135.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.184;DP=15;FS=2.363;HRun=4;HaplotypeScore=111.2955;MQ=40.77;MQ0=1;MQRankSum=-1.041;QD=7.97;ReadPosRankSum=-0.674;set=variant2 GT:AD:DP:GQ:PL 0/1:12,5:15:99:175,0,363 1 144865850 144865850 G T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon31:c.C6216A:p.D2072E,PDE4DIP:NM_001198834:exon35:c.C5730A:p.D1910E,PDE4DIP:NM_014644:exon35:c.C5730A:p.D1910E,PDE4DIP:NM_001198832:exon37:c.C5412A:p.D1804E,PDE4DIP:NM_001350523:exon37:c.C5409A:p.D1803E,PDE4DIP:NM_001350521:exon38:c.C6141A:p.D2047E,PDE4DIP:NM_001350522:exon38:c.C5928A:p.D1976E . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.5 rs1613780 COSM4590805;COSM4590806;COSM4590804 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2765.10 250 1 144865850 . G T 2765.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.316;DP=250;DS;Dels=0.00;FS=0.472;HRun=2;HaplotypeScore=6.7434;MQ=58.06;MQ0=0;MQRankSum=-2.273;QD=11.06;ReadPosRankSum=-0.073;VQSLOD=2.5012;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:150,100:250:99:2795,0,4662 1 144866643 144866643 G A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon30:c.C6085T:p.R2029C,PDE4DIP:NM_001198834:exon34:c.C5599T:p.R1867C,PDE4DIP:NM_014644:exon34:c.C5599T:p.R1867C,PDE4DIP:NM_001198832:exon36:c.C5281T:p.R1761C,PDE4DIP:NM_001350523:exon36:c.C5278T:p.R1760C,PDE4DIP:NM_001350521:exon37:c.C6010T:p.R2004C,PDE4DIP:NM_001350522:exon37:c.C5797T:p.R1933C . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.292 -0.330 1.000 0.500 0.563 0.310 0 2.24 0.271 1.345 0.333 0.024 0.147 1.000 0.715 0.868 0.363 6.287 0.201 . . . . . . . . . . . . . . . . . . . . het 3041.85 241 1 144866643 . G A 3041.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.878;DP=241;DS;Dels=0.00;FS=0.505;HRun=0;HaplotypeScore=1.8930;MQ=58.70;MQ0=0;MQRankSum=2.374;QD=12.62;ReadPosRankSum=-0.577;VQSLOD=4.9514;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:134,107:241:99:3072,0,3528 1 144866662 144866662 T C exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350520:exon30:c.A6066G:p.E2022E,PDE4DIP:NM_001198834:exon34:c.A5580G:p.E1860E,PDE4DIP:NM_014644:exon34:c.A5580G:p.E1860E,PDE4DIP:NM_001198832:exon36:c.A5262G:p.E1754E,PDE4DIP:NM_001350523:exon36:c.A5259G:p.E1753E,PDE4DIP:NM_001350521:exon37:c.A5991G:p.E1997E,PDE4DIP:NM_001350522:exon37:c.A5778G:p.E1926E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.155 -0.125 1.000 0.423 0.563 0.310 0 2.05 0.257 1.112 0.306 0.076 0.183 1.000 0.715 1.000 0.888 6.847 0.230 . . . . . . . . . . . . . . . . . . . . het 2848.48 231 1 144866662 . T C 2848.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.013;DP=231;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4130;MQ=59.11;MQ0=0;MQRankSum=0.422;QD=12.33;ReadPosRankSum=0.143;VQSLOD=4.4236;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,105:231:99:2878,0,3376 1 144868170 144868170 C T exonic;splicing PDE4DIP;LOC100996724 NR_144517:exon32:c.5686-1G>A nonsynonymous SNV PDE4DIP:NM_001350520:exon29:c.G5755A:p.A1919T,PDE4DIP:NM_001198834:exon33:c.G5269A:p.A1757T,PDE4DIP:NM_014644:exon33:c.G5269A:p.A1757T,PDE4DIP:NM_001198832:exon35:c.G4951A:p.A1651T,PDE4DIP:NM_001350523:exon35:c.G4948A:p.A1650T,PDE4DIP:NM_001350521:exon36:c.G5680A:p.A1894T,PDE4DIP:NM_001350522:exon36:c.G5467A:p.A1823T . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.5 rs1628310 COSM4591253;COSM4591251;COSM4591252 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 1598.70 119 1 144868170 . C T 1598.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.250;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2866;MQ=58.77;MQ0=0;MQRankSum=0.653;QD=13.43;ReadPosRankSum=-0.254;VQSLOD=4.8313;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:55,64:119:99:1629,0,1558 1 144871738 144871738 C A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon28:c.G5710T:p.A1904S,PDE4DIP:NM_001198834:exon32:c.G5224T:p.A1742S,PDE4DIP:NM_014644:exon32:c.G5224T:p.A1742S,PDE4DIP:NM_001350521:exon35:c.G5635T:p.A1879S,PDE4DIP:NM_001350522:exon35:c.G5422T:p.A1808S . . . . . . 0.5000 0.5 0.5 0.4998 0.5 0.5 0.5 0.5 . . . 0.46 0.46 rs1698605 COSM4591246;COSM4591247 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2624.09 249 1 144871738 . C A 2624.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.518;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9096;MQ=59.50;MQ0=0;MQRankSum=-0.531;QD=10.54;ReadPosRankSum=-2.530;VQSLOD=4.0743;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:142,107:249:99:2654,0,4016 1 144871755 144871755 A T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon28:c.T5693A:p.V1898E,PDE4DIP:NM_001198834:exon32:c.T5207A:p.V1736E,PDE4DIP:NM_014644:exon32:c.T5207A:p.V1736E,PDE4DIP:NM_001350521:exon35:c.T5618A:p.V1873E,PDE4DIP:NM_001350522:exon35:c.T5405A:p.V1802E . . . . . . 0.5000 0.5 0.5 0.4998 0.5 0.5000 0.5 0.5 . . . 0.47 0.48 rs1778159 COSM4591750;COSM4591751 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2288.37 236 1 144871755 . A T 2288.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.639;DP=236;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4750;MQ=59.48;MQ0=0;MQRankSum=1.281;QD=9.70;ReadPosRankSum=0.838;VQSLOD=5.5218;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:147,89:236:99:2318,0,4059 1 144871782 144871782 A G exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon28:c.T5666C:p.L1889P,PDE4DIP:NM_001198834:exon32:c.T5180C:p.L1727P,PDE4DIP:NM_014644:exon32:c.T5180C:p.L1727P,PDE4DIP:NM_001350521:exon35:c.T5591C:p.L1864P,PDE4DIP:NM_001350522:exon35:c.T5378C:p.L1793P . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.42 0.49 rs1778158 COSM4591746;COSM4591747 23(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2552.48 223 1 144871782 . A G 2552.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.964;DP=223;DS;Dels=0.00;FS=1.099;HRun=2;HaplotypeScore=5.6287;MQ=59.26;MQ0=0;MQRankSum=0.326;QD=11.45;ReadPosRankSum=0.512;VQSLOD=4.6346;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,95:223:99:2582,0,3657 1 144873887 144873887 C T exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350520:exon27:c.G5556A:p.Q1852Q,PDE4DIP:NM_001198834:exon31:c.G5070A:p.Q1690Q,PDE4DIP:NM_014644:exon31:c.G5070A:p.Q1690Q,PDE4DIP:NM_001198832:exon34:c.G4938A:p.Q1646Q,PDE4DIP:NM_001350521:exon34:c.G5481A:p.Q1827Q,PDE4DIP:NM_001350522:exon34:c.G5268A:p.Q1756Q,PDE4DIP:NM_001350523:exon34:c.G4935A:p.Q1645Q . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.51 rs1699787 COSM4594994;COSM4594995;COSM4594996 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 4508.49 250 1 144873887 . C T 4508.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.963;DP=250;DS;Dels=0.00;FS=3.213;HRun=1;HaplotypeScore=6.5547;MQ=58.43;MQ0=0;MQRankSum=0.183;QD=18.03;ReadPosRankSum=0.284;VQSLOD=3.3433;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,128:250:99:3819,0,3560 1 144874760 144874760 T C exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350520:exon26:c.A5334G:p.E1778E,PDE4DIP:NM_001198834:exon30:c.A4848G:p.E1616E,PDE4DIP:NM_014644:exon30:c.A4848G:p.E1616E,PDE4DIP:NM_001198832:exon33:c.A4716G:p.E1572E,PDE4DIP:NM_001350521:exon33:c.A5259G:p.E1753E,PDE4DIP:NM_001350522:exon33:c.A5046G:p.E1682E,PDE4DIP:NM_001350523:exon33:c.A4713G:p.E1571E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 1.320 0.052 1.000 0.517 0.563 0.310 0 2.86 0.323 0.876 0.275 -0.391 0.064 0.995 0.385 0.991 0.552 11.23 0.479 Neuroblastoma breakpoint family (NBPF) domain . . . . . . . . . . . . . . . . . . . het 4180.60 250 1 144874760 . T C 4180.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.716;DP=250;DS;Dels=0.00;FS=2.895;HRun=0;HaplotypeScore=4.4157;MQ=59.39;MQ0=0;MQRankSum=-0.114;QD=16.72;ReadPosRankSum=0.484;VQSLOD=4.6538;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3469,0,3888 1 144874815 144874815 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon26:c.A5279G:p.H1760R,PDE4DIP:NM_001198834:exon30:c.A4793G:p.H1598R,PDE4DIP:NM_014644:exon30:c.A4793G:p.H1598R,PDE4DIP:NM_001198832:exon33:c.A4661G:p.H1554R,PDE4DIP:NM_001350521:exon33:c.A5204G:p.H1735R,PDE4DIP:NM_001350522:exon33:c.A4991G:p.H1664R,PDE4DIP:NM_001350523:exon33:c.A4658G:p.H1553R . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -1.261 -1.284 1.000 0.747 0.661 0.498 0 -6.68 0.016 -0.002 0.128 -1.466 0.011 0.001 0.137 0.372 0.250 16.709 0.852 Neuroblastoma breakpoint family (NBPF) domain . . . . . . . . . . . . . . . . . . . het 2031.12 233 1 144874815 . T C 2031.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.270;DP=233;DS;Dels=0.00;FS=2.756;HRun=0;HaplotypeScore=6.1456;MQ=59.46;MQ0=0;MQRankSum=1.155;QD=8.72;ReadPosRankSum=-1.070;VQSLOD=3.4582;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:147,86:233:99:2061,0,4500 1 144879090 144879090 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon23:c.A4846G:p.K1616E,PDE4DIP:NM_001198834:exon27:c.A4360G:p.K1454E,PDE4DIP:NM_014644:exon27:c.A4360G:p.K1454E,PDE4DIP:NM_001198832:exon30:c.A4228G:p.K1410E,PDE4DIP:NM_001350521:exon30:c.A4771G:p.K1591E,PDE4DIP:NM_001350522:exon30:c.A4558G:p.K1520E,PDE4DIP:NM_001350523:exon30:c.A4225G:p.K1409E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c 0.265 0.222 1.000 0.747 0.563 0.310 0 5.29 0.743 1.686 0.371 0.945 0.533 0.002 0.151 0.991 0.552 11.540 0.497 . . . . . . . . . . . . . . . . . . . . het 1272.74 217 1 144879090 . T C 1272.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.582;DP=217;DS;Dels=0.00;FS=1.372;HRun=0;HaplotypeScore=2.7220;MQ=59.23;MQ0=0;MQRankSum=1.725;QD=5.87;ReadPosRankSum=-0.344;VQSLOD=4.4363;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:161,56:217:99:1303,0,5068 1 144879264 144879264 A G exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon23:c.T4672C:p.W1558R,PDE4DIP:NM_001198834:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_014644:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_001198832:exon30:c.T4054C:p.W1352R,PDE4DIP:NM_001350521:exon30:c.T4597C:p.W1533R,PDE4DIP:NM_001350522:exon30:c.T4384C:p.W1462R,PDE4DIP:NM_001350523:exon30:c.T4051C:p.W1351R 0.71 0.54 0.72 0.93 0.65 0.77 0.6879 0.5460 0.8080 0.9285 0.6678 0.6427 0.6839 0.7580 . . . 0.66 0.68 rs2798901 COSM4591662;COSM4591664;COSM4591663 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6917 0.5439 0.7866 0.6414 0.9246 0.6690 0.6390 0.6765 0.7569 0.6344 0.5459 0.7303 0.6424 0.9090 0.6683 0.6407 0.6684 hom 5569.49 185 1 144879264 . A G 5569.49 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.2636;MQ=58.88;MQ0=0;QD=30.11;VQSLOD=6.4967;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:5568,454,0 1 144879375 144879375 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon23:c.A4561G:p.K1521E,PDE4DIP:NM_001198834:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_014644:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_001198832:exon30:c.A3943G:p.K1315E,PDE4DIP:NM_001350521:exon30:c.A4486G:p.K1496E,PDE4DIP:NM_001350522:exon30:c.A4273G:p.K1425E,PDE4DIP:NM_001350523:exon30:c.A3940G:p.K1314E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.815 -0.742 1.000 0.473 0.563 0.310 0 -0.444 0.116 0.144 0.158 0.041 0.156 0.267 0.248 0.917 0.393 7.421 0.261 . . . . . . . . . . . . . . . . . . . . het 4049.69 250 1 144879375 . T C 4049.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.744;DP=250;DS;Dels=0.00;FS=0.486;HRun=0;HaplotypeScore=5.2355;MQ=58.96;MQ0=0;MQRankSum=-0.327;QD=16.20;ReadPosRankSum=-1.625;VQSLOD=3.9524;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,122:250:99:3369,0,3642 1 144882581 144882581 A G exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350520:exon20:c.T3927C:p.I1309I,PDE4DIP:NM_001198834:exon24:c.T3438C:p.I1146I,PDE4DIP:NM_014644:exon24:c.T3438C:p.I1146I,PDE4DIP:NM_001350521:exon27:c.T3849C:p.I1283I,PDE4DIP:NM_001350522:exon27:c.T3636C:p.I1212I . . . . . . 0.5000 0.5 0.5 0.5 0.4998 0.5000 0.5 0.4999 . . . 0.5 0.51 rs1699836 COSM4595251;COSM4595252 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.4998 0.4999 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 3902.08 250 1 144882581 . A G 3902.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.447;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2205;MQ=57.49;MQ0=2;MQRankSum=0.822;QD=15.61;ReadPosRankSum=0.364;VQSLOD=3.3979;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,132:250:99:3269,0,3204 1 144882823 144882823 C T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon20:c.G3685A:p.A1229T,PDE4DIP:NM_001198834:exon24:c.G3196A:p.A1066T,PDE4DIP:NM_014644:exon24:c.G3196A:p.A1066T,PDE4DIP:NM_001198832:exon27:c.G3394A:p.A1132T,PDE4DIP:NM_001350521:exon27:c.G3607A:p.A1203T,PDE4DIP:NM_001350522:exon27:c.G3394A:p.A1132T,PDE4DIP:NM_001350523:exon27:c.G3394A:p.A1132T . . . . . . 0.5000 0.5 0.5 0.5 0.4998 0.5000 0.5 0.4999 . . . 0.5 0.5 rs1698647 COSM4591245;COSM4591243;COSM4591244 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.5 0.4999 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 3225.28 249 1 144882823 . C T 3225.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.006;DP=249;DS;Dels=0.00;FS=4.276;HRun=2;HaplotypeScore=7.4280;MQ=58.54;MQ0=0;MQRankSum=0.282;QD=12.95;ReadPosRankSum=-1.395;VQSLOD=3.7191;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,116:249:99:3255,0,4064 1 144886197 144886197 A T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon19:c.T3526A:p.F1176I,PDE4DIP:NM_001198834:exon23:c.T3037A:p.F1013I,PDE4DIP:NM_014644:exon23:c.T3037A:p.F1013I,PDE4DIP:NM_001198832:exon26:c.T3235A:p.F1079I,PDE4DIP:NM_001350521:exon26:c.T3448A:p.F1150I,PDE4DIP:NM_001350522:exon26:c.T3235A:p.F1079I,PDE4DIP:NM_001350523:exon26:c.T3235A:p.F1079I . . . . . . 0.5000 0.5 0.5 0.5 0.4998 0.5000 0.5 0.4999 . . . 0.5 0.51 rs1698624 COSM4142486;COSM4142487;COSM4142488 1(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.4999 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 4089.37 249 1 144886197 . A T 4089.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.362;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3850;MQ=59.31;MQ0=0;MQRankSum=1.102;QD=16.42;ReadPosRankSum=-0.623;VQSLOD=4.2501;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,129:249:99:3456,0,3124 1 144912153 144912153 A G exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon11:c.T2611C:p.C871R,PDE4DIP:NM_001350520:exon11:c.T2611C:p.C871R,PDE4DIP:NM_001002812:exon15:c.T2122C:p.C708R,PDE4DIP:NM_001198834:exon15:c.T2122C:p.C708R,PDE4DIP:NM_014644:exon15:c.T2122C:p.C708R,PDE4DIP:NM_001198832:exon18:c.T2320C:p.C774R,PDE4DIP:NM_001350521:exon18:c.T2533C:p.C845R,PDE4DIP:NM_001350522:exon18:c.T2320C:p.C774R,PDE4DIP:NM_001350523:exon18:c.T2320C:p.C774R 0.88 0.92 0.89 0.94 0.8 0.85 0.8255 0.9040 0.9162 0.9281 0.7734 0.7893 0.8304 0.8259 0.83 0.89 0.79 0.91 0.75 rs1628172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8268 0.9064 0.9087 0.7831 0.9298 0.7753 0.7899 0.8282 0.8255 0.8278 0.8993 0.8878 0.7781 0.9165 0.7715 0.7879 0.8211 hom 3731.64 134 1 144912153 . A G 3731.64 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=8.2510;MQ=58.54;MQ0=0;QD=27.44;VQSLOD=3.6788;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,133:134:99:3731,298,0 1 144912233 144912233 C T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon11:c.G2531A:p.R844H,PDE4DIP:NM_001350520:exon11:c.G2531A:p.R844H,PDE4DIP:NM_001002812:exon15:c.G2042A:p.R681H,PDE4DIP:NM_001198834:exon15:c.G2042A:p.R681H,PDE4DIP:NM_014644:exon15:c.G2042A:p.R681H,PDE4DIP:NM_001198832:exon18:c.G2240A:p.R747H,PDE4DIP:NM_001350521:exon18:c.G2453A:p.R818H,PDE4DIP:NM_001350522:exon18:c.G2240A:p.R747H,PDE4DIP:NM_001350523:exon18:c.G2240A:p.R747H . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.47 rs1629011 COSM4591491;COSM4591489;COSM4591488;COSM4591487;COSM4591490 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 1374.08 103 1 144912233 . C T 1374.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.633;DP=103;Dels=0.00;FS=1.721;HRun=0;HaplotypeScore=1.6647;MQ=57.75;MQ0=0;MQRankSum=-1.279;QD=13.34;ReadPosRankSum=0.327;VQSLOD=3.7808;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,55:103:99:1404,0,1159 1 144915624 144915624 G - exonic PDE4DIP frameshift deletion PDE4DIP:NM_001002811:exon10:c.2290delC:p.L764Cfs*11,PDE4DIP:NM_001350520:exon10:c.2290delC:p.L764Cfs*11,PDE4DIP:NM_001002812:exon14:c.1801delC:p.L601Cfs*11,PDE4DIP:NM_001198834:exon14:c.1801delC:p.L601Cfs*11,PDE4DIP:NM_014644:exon14:c.1801delC:p.L601Cfs*11,PDE4DIP:NM_001198832:exon17:c.1999delC:p.L667Cfs*11,PDE4DIP:NM_001350521:exon17:c.2212delC:p.L738Cfs*11,PDE4DIP:NM_001350522:exon17:c.1999delC:p.L667Cfs*11,PDE4DIP:NM_001350523:exon17:c.1999delC:p.L667Cfs*11 . . . . . . 0.1924 0.0367 0.2842 0.3971 0.2208 0.1737 0.1960 0.1836 0.13 0.048 0.17 0.11 0.098 rs66512216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1587 0.0261 0.2254 0.0755 0.3765 0.1820 0.1376 0.1463 0.1391 0.1363 0.0333 0.2245 0.0966 0.3759 0.2005 0.1534 0.1732 het 1674.04 220 1 144915623 . AG A 1674.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.022;DP=220;DS;FS=4.632;HRun=1;HaplotypeScore=773.8255;MQ=48.87;MQ0=5;MQRankSum=-4.148;QD=7.34;ReadPosRankSum=-0.153;set=variant2 GT:AD:DP:GQ:PL 0/1:166,62:220:99:1713,0,5529 1 144916748 144916748 C G exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon9:c.G2096C:p.S699T,PDE4DIP:NM_001350520:exon9:c.G2096C:p.S699T,PDE4DIP:NM_001002812:exon13:c.G1607C:p.S536T,PDE4DIP:NM_001198834:exon13:c.G1607C:p.S536T,PDE4DIP:NM_014644:exon13:c.G1607C:p.S536T,PDE4DIP:NM_001198832:exon16:c.G1805C:p.S602T,PDE4DIP:NM_001350521:exon16:c.G2018C:p.S673T,PDE4DIP:NM_001350522:exon16:c.G1805C:p.S602T,PDE4DIP:NM_001350523:exon16:c.G1805C:p.S602T . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.49 rs1747930 COSM4591224;COSM4591220;COSM4591223;COSM4591222;COSM4591221 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2852.31 224 1 144916748 . C G 2852.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.093;DP=224;DS;Dels=0.00;FS=1.341;HRun=0;HaplotypeScore=8.4428;MQ=58.92;MQ0=0;MQRankSum=-0.254;QD=12.73;ReadPosRankSum=0.283;VQSLOD=3.9623;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,107:224:99:2882,0,3480 1 144917546 144917546 A G exonic PDE4DIP synonymous SNV PDE4DIP:NM_001002811:exon8:c.T2047C:p.L683L,PDE4DIP:NM_001350520:exon8:c.T2047C:p.L683L,PDE4DIP:NM_001002812:exon12:c.T1558C:p.L520L,PDE4DIP:NM_001198834:exon12:c.T1558C:p.L520L,PDE4DIP:NM_014644:exon12:c.T1558C:p.L520L,PDE4DIP:NM_001198832:exon15:c.T1756C:p.L586L,PDE4DIP:NM_001350521:exon15:c.T1969C:p.L657L,PDE4DIP:NM_001350522:exon15:c.T1756C:p.L586L,PDE4DIP:NM_001350523:exon15:c.T1756C:p.L586L . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.51 rs1698682 COSM4595182;COSM4595184;COSM4595185;COSM4595183;COSM4595181 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 4019.23 241 1 144917546 . A G 4019.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.756;DP=241;DS;Dels=0.00;FS=10.322;HRun=1;HaplotypeScore=5.5741;MQ=59.37;MQ0=0;MQRankSum=0.937;QD=16.68;ReadPosRankSum=0.561;VQSLOD=3.3791;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:130,111:241:99:3335,0,3967 1 144918957 144918957 T A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon6:c.A1718T:p.E573V,PDE4DIP:NM_001350520:exon6:c.A1718T:p.E573V,PDE4DIP:NM_001002812:exon10:c.A1229T:p.E410V,PDE4DIP:NM_001198834:exon10:c.A1229T:p.E410V,PDE4DIP:NM_014644:exon10:c.A1229T:p.E410V,PDE4DIP:NM_001198832:exon13:c.A1427T:p.E476V,PDE4DIP:NM_001350521:exon13:c.A1640T:p.E547V,PDE4DIP:NM_001350522:exon13:c.A1427T:p.E476V,PDE4DIP:NM_001350523:exon13:c.A1427T:p.E476V . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.5 rs1061308 COSM4590157;COSM4590160;COSM4590159;COSM4590161;COSM4590158 3(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 3014.49 249 1 144918957 . T A 3014.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.002;DP=249;DS;Dels=0.00;FS=4.949;HRun=0;HaplotypeScore=4.8350;MQ=57.88;MQ0=0;MQRankSum=-0.638;QD=12.11;ReadPosRankSum=-0.123;VQSLOD=3.8019;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:133,116:249:99:3044,0,3705 1 144922583 144922583 G A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon3:c.C1313T:p.S438L,PDE4DIP:NM_001350520:exon3:c.C1313T:p.S438L,PDE4DIP:NM_001002812:exon7:c.C824T:p.S275L,PDE4DIP:NM_001198834:exon7:c.C824T:p.S275L,PDE4DIP:NM_014644:exon7:c.C824T:p.S275L,PDE4DIP:NM_001198832:exon10:c.C1022T:p.S341L,PDE4DIP:NM_001350521:exon10:c.C1235T:p.S412L,PDE4DIP:NM_001350522:exon10:c.C1022T:p.S341L,PDE4DIP:NM_001350523:exon10:c.C1022T:p.S341L . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.109 0.032 1.000 0.462 0.707 0.730 0 3.2 0.357 1.242 0.321 0.871 0.380 0.818 0.297 0.928 0.402 4.776 0.125 . . . . . . . . . . . . . . . . . . . . het 4051.23 250 1 144922583 . G A 4051.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.205;DP=250;DS;Dels=0.00;FS=2.184;HRun=1;HaplotypeScore=5.4162;MQ=58.93;MQ0=0;MQRankSum=2.273;QD=16.20;ReadPosRankSum=-1.755;VQSLOD=3.1244;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3358,0,3529 1 144923729 144923729 T - exonic PDE4DIP frameshift deletion PDE4DIP:NM_001002811:exon2:c.1218delA:p.E406Dfs*22,PDE4DIP:NM_001350520:exon2:c.1218delA:p.E406Dfs*22,PDE4DIP:NM_001002812:exon6:c.729delA:p.E243Dfs*22,PDE4DIP:NM_001198834:exon6:c.729delA:p.E243Dfs*22,PDE4DIP:NM_014644:exon6:c.729delA:p.E243Dfs*22,PDE4DIP:NM_001198832:exon9:c.927delA:p.E309Dfs*22,PDE4DIP:NM_001350521:exon9:c.1140delA:p.E380Dfs*22,PDE4DIP:NM_001350522:exon9:c.927delA:p.E309Dfs*22,PDE4DIP:NM_001350523:exon9:c.927delA:p.E309Dfs*22 0.19 0.011 0.22 0.4 0.18 0.18 0.1929 0.0366 0.2845 0.3985 0.2210 0.1741 0.1960 0.1843 . . . . . rs369106087 COSM4381225;COSM4381226;COSM4381224;COSM4381228;COSM4381227 6(upper_aerodigestive_tract) Benign not_specified RCV000454655.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1730 0.0286 0.2398 0.0917 0.3834 0.2002 0.1516 0.1628 0.1554 0.1349 0.0332 0.2274 0.1020 0.3748 0.2004 0.1507 0.1689 het 1025.61 228 1 144923728 . GT G 1025.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.318;DP=228;DS;FS=0.620;HRun=2;HaplotypeScore=512.8734;MQ=53.98;MQ0=0;MQRankSum=2.335;QD=4.50;ReadPosRankSum=-1.094;set=variant2 GT:AD:DP:GQ:PL 0/1:180,48:228:99:1065,0,7134 1 144930596 144930596 C A exonic PDE4DIP synonymous SNV PDE4DIP:NM_001002811:exon1:c.G1113T:p.P371P,PDE4DIP:NM_001350520:exon1:c.G1113T:p.P371P . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.48 rs2762867 COSM4594942 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2129.28 188 1 144930596 . C A 2129.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.233;DP=188;Dels=0.00;FS=4.337;HRun=0;HaplotypeScore=0.8941;MQ=59.31;MQ0=0;MQRankSum=0.884;QD=11.33;ReadPosRankSum=1.895;VQSLOD=5.0527;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,86:188:99:2159,0,2442 1 144930940 144930940 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.A769G:p.K257E,PDE4DIP:NM_001350520:exon1:c.A769G:p.K257E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.065 -0.018 1.000 0.747 0.733 0.969 0 5.53 0.825 3.491 0.528 1.035 0.655 0.999 0.424 0.878 0.368 13.604 0.613 . . . . . . . . . . . . . . . . . . . . het 4474.90 246 1 144930940 . T C 4474.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.669;DP=246;DS;Dels=0.00;FS=0.473;HRun=1;HaplotypeScore=4.8546;MQ=59.30;MQ0=0;MQRankSum=0.453;QD=18.19;ReadPosRankSum=-0.215;VQSLOD=4.3651;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,142:246:99:3863,0,2740 1 144931087 144931087 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.A622G:p.T208A,PDE4DIP:NM_001350520:exon1:c.A622G:p.T208A . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c 0.313 0.327 1.000 0.747 0.733 0.969 0 4.95 0.648 2.515 0.449 0.143 0.228 1.000 0.715 0.989 0.536 12.559 0.554 . . . . . . . . . . . . . . . . . . . . het 994.35 153 1 144931087 . T C 994.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.561;DP=153;Dels=0.00;FS=4.566;HRun=0;HaplotypeScore=4.9073;MQ=59.26;MQ0=0;MQRankSum=-0.278;QD=6.50;ReadPosRankSum=-0.319;VQSLOD=3.0228;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:109,43:153:99:1024,0,3180 1 144931330 144931330 C T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.G379A:p.A127T,PDE4DIP:NM_001350520:exon1:c.G379A:p.A127T . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.51 rs2762745 COSM4591353 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 3112.15 250 1 144931330 . C T 3112.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.408;DP=250;DS;Dels=0.00;FS=2.938;HRun=0;HaplotypeScore=6.2612;MQ=59.49;MQ0=0;MQRankSum=1.306;QD=12.45;ReadPosRankSum=1.077;VQSLOD=3.9739;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3142,0,3881 1 144931392 144931392 G A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.C317T:p.A106V,PDE4DIP:NM_001350520:exon1:c.C317T:p.A106V . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.708 -0.600 1.000 0.747 0.442 0.072 0 4.35 0.513 1.124 0.307 -0.024 0.128 0.003 0.159 0.767 0.326 12.594 0.556 . . . . . . . . . . . . . . . . . . . . het 3025.05 249 1 144931392 . G A 3025.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.574;DP=249;DS;Dels=0.00;FS=0.983;HRun=0;HaplotypeScore=0.9996;MQ=59.59;MQ0=0;MQRankSum=0.745;QD=12.15;ReadPosRankSum=0.133;VQSLOD=6.1051;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:136,112:249:99:3055,0,3697 1 144994658 144994658 C A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002810:exon1:c.G74T:p.R25L,PDE4DIP:NM_001002812:exon1:c.G74T:p.R25L,PDE4DIP:NM_001198834:exon1:c.G74T:p.R25L,PDE4DIP:NM_014644:exon1:c.G74T:p.R25L,PDE4DIP:NM_001195261:exon2:c.G83T:p.R28L,PDE4DIP:NM_001198832:exon4:c.G272T:p.R91L,PDE4DIP:NM_001350521:exon4:c.G485T:p.R162L,PDE4DIP:NM_001350522:exon4:c.G272T:p.R91L,PDE4DIP:NM_001350523:exon4:c.G272T:p.R91L,PDE4DIP:NM_022359:exon4:c.G485T:p.R162L . . . . . . 0.4998 0.4985 0.5 0.5 0.5 0.5 0.5 0.4996 . . . 0.5 0.48 rs1664022 COSM4591537;COSM4591540;COSM4591539;COSM4591541;COSM4591538 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4998 0.4980 0.4999 0.4999 0.5 0.5 0.5000 0.5 0.4996 0.4105 0.4906 0.4868 0.2020 0.4981 0.4997 0.3324 0.4601 het 2721.64 212 1 144994658 . C A 2721.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.949;DP=212;DS;Dels=0.00;FS=2.437;HRun=0;HaplotypeScore=3.0908;MQ=59.47;MQ0=0;MQRankSum=0.861;QD=12.84;ReadPosRankSum=0.938;VQSLOD=5.6185;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:111,101:212:99:2752,0,2875 1 145075683 145075683 C T exonic PDE4DIP stopgain PDE4DIP:NM_001350521:exon1:c.G180A:p.W60X,PDE4DIP:NM_022359:exon1:c.G180A:p.W60X . . . . . . 0.4999 0.4992 0.4999 0.5 0.5 0.4999 0.5 0.4999 . . . 0.46 0.42 rs2762779 COSM423677 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid);17(upper_aerodigestive_tract);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4998 0.4995 0.5 0.4999 0.5 0.4998 0.4997 0.4998 0.5000 0.5000 0.4999 0.5 0.5 0.5 0.5 0.5 0.5 het 903.12 117 1 145075683 . C T 903.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.304;DP=117;Dels=0.00;FS=6.431;HRun=0;HaplotypeScore=2.8905;MQ=59.01;MQ0=0;MQRankSum=0.287;QD=7.72;ReadPosRankSum=-0.571;VQSLOD=3.6847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,40:117:99:933,0,2000 1 145075854 145075854 G C exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350521:exon1:c.C9G:p.G3G,PDE4DIP:NM_022359:exon1:c.C9G:p.G3G . . . . . . 0.5000 0.4996 0.5 0.5 0.5 0.5000 0.5 0.5 . . . 0.49 0.45 rs1663853 COSM3723000 1(breast);1(thyroid);2(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.4999 0.5000 0.5 0.5 0.4999 0.5000 0.5 0.5 0.5000 0.5001 0.5 0.5 0.5 0.5 0.5 0.5 het 649.83 65 1 145075854 . G C 649.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.303;DP=65;Dels=0.00;FS=1.231;HRun=3;HaplotypeScore=4.6762;MQ=58.41;MQ0=0;MQRankSum=1.072;QD=10.00;ReadPosRankSum=0.101;VQSLOD=4.7370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,25:65:99:680,0,1084 1 145103947 145103947 T C exonic SEC22B unknown UNKNOWN . . . . . . 0.4981 0.4993 0.4975 0.4967 0.4974 0.4982 0.4977 0.4987 . . . 0.5 . rs2794062 COSN2558063 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4986 0.4988 0.4977 0.4985 0.4987 0.4992 0.4987 0.4972 0.4988 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 473.16 55 1 145103947 . T C 473.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.571;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.90;MQ0=0;MQRankSum=-1.698;QD=8.60;ReadPosRankSum=-0.282;VQSLOD=4.9495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,23:55:99:503,0,812 1 145109583 145109583 C A exonic SEC22B unknown UNKNOWN . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 . rs2794053 COSN15633403;COSN15628855;COSN15639380;COSN15636823;COSN15635947;COSN15641837;COSN15641051;COSN15646816;COSN15635130;COSN15631382;COSN15628028;COSN15645118;COSN15644312;COSN15643461;COSN15638516;COSN15634296;COSN15640210;COSN15642641;COSN15637678;COSN15629698;COSN15630547;COSN15645979;COSN15632308 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 4103.11 249 1 145109583 . C A 4103.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.881;DP=249;DS;Dels=0.00;FS=2.420;HRun=1;HaplotypeScore=10.3636;MQ=59.17;MQ0=0;MQRankSum=0.748;QD=16.48;ReadPosRankSum=-1.743;VQSLOD=2.6885;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,119:249:99:3389,0,3646 1 145109661 145109661 G A exonic SEC22B unknown UNKNOWN . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 1.965 0.272 1.000 0.747 0.383 0.051 0 5.55 0.832 7.573 0.816 0.707 0.301 1.000 0.715 0.993 0.574 17.055 0.863 Longin domain|Longin-like domain . . . . . . . . . . . . . . . . . . . het 1083.78 249 1 145109661 . G A 1083.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.587;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3452;MQ=59.25;MQ0=0;MQRankSum=0.619;QD=4.35;ReadPosRankSum=-0.363;VQSLOD=3.6835;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:196,53:249:99:1114,0,5654 1 145112485 145112485 C T exonic SEC22B unknown UNKNOWN . . . . . . 0.4995 0.4995 0.4994 0.4979 0.4994 0.4996 0.4978 0.4998 0.42 0.4 0.43 0.12 . rs2794039 COSN19733235;COSN19613927;COSN20345188 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4994 0.4991 0.4993 0.4996 0.4994 0.4996 0.4994 0.4986 0.4998 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 909.85 225 1 145112485 . C T 909.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.555;DP=225;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9273;MQ=58.75;MQ0=0;MQRankSum=1.886;QD=4.04;ReadPosRankSum=0.337;VQSLOD=3.1768;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:174,51:225:99:940,0,4490 1 145532549 145532549 T C exonic ITGA10 synonymous SNV ITGA10:NM_001303041:exon5:c.T573C:p.F191F,ITGA10:NM_001303040:exon6:c.T609C:p.F203F,ITGA10:NM_003637:exon9:c.T1002C:p.F334F . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 1.254 0.054 0.630 0.219 0.563 0.310 0 2.37 0.282 1.952 0.397 1.048 0.713 1.000 0.715 1.000 0.888 8.375 0.314 von Willebrand factor\x2c type A . . . . . . . . . . . . . . . . . . . hom 6602.80 200 1 145532549 . T C 6602.80 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0550;MQ=59.15;MQ0=0;QD=33.01;VQSLOD=7.3951;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6602,515,0 1 145561116 145561116 G A exonic ANKRD35 synonymous SNV ANKRD35:NM_001280799:exon8:c.G534A:p.Q178Q,ANKRD35:NM_144698:exon10:c.G804A:p.Q268Q . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 0.684 -0.049 0.127 0.170 0.497 0.185 0 0.767 0.176 -0.222 0.091 -0.410 0.061 0.021 0.196 0.006 0.095 5.348 0.152 . . . . . . . . . . . . . . . . . . . . het 665.53 52 1 145561116 . G A 665.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.319;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4658;MQ=58.66;MQ0=0;MQRankSum=1.685;QD=12.80;ReadPosRankSum=-0.751;VQSLOD=5.7190;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,27:52:99:696,0,714 1 145561594 145561594 C T exonic ANKRD35 nonsynonymous SNV ANKRD35:NM_001280799:exon8:c.C1012T:p.P338S,ANKRD35:NM_144698:exon10:c.C1282T:p.P428S 0.56 0.58 0.5 0.73 0.38 0.61 0.4587 0.5388 0.5499 0.7298 0.3856 0.3780 0.5133 0.5553 0.42 0.53 0.37 0.53 0.34 rs6670984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4597 0.5352 0.5394 0.4971 0.7269 0.3961 0.3669 0.4693 0.5543 0.4344 0.5269 0.5060 0.5033 0.7270 0.3970 0.3513 0.4508 het 1461.40 84 1 145561594 . C T 1461.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.522;DP=84;Dels=0.00;FS=12.286;HRun=0;HaplotypeScore=0.9992;MQ=57.92;MQ0=0;MQRankSum=2.373;QD=17.40;ReadPosRankSum=-0.881;VQSLOD=2.5615;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,53:84:99:1491,0,741 1 145583938 145583938 C G exonic PIAS3 nonsynonymous SNV PIAS3:NM_006099:exon10:c.C1169G:p.S390C 0.0066 . 0.0086 . 0.023 0.0041 0.0137 0.0028 0.0083 0 0.0156 0.0199 0.0176 0.0058 0.018 0.0036 0.025 . 0.025 rs17354559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0145 0.0027 0.0108 0.0185 0 0.0166 0.0210 0.0155 0.0057 0.0159 0.0061 0.0179 0.0199 0 0.0180 0.0228 0.0133 het 4266.77 248 1 145583938 . C G 4266.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.582;DP=248;DS;Dels=0.00;FS=0.464;HRun=0;HaplotypeScore=1.8646;MQ=59.08;MQ0=0;MQRankSum=-0.181;QD=17.20;ReadPosRankSum=0.136;VQSLOD=5.4036;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:120,128:248:99:3631,0,3307 1 146672906 146672906 C T exonic FMO5 synonymous SNV FMO5:NM_001144829:exon7:c.G1011A:p.P337P,FMO5:NM_001461:exon7:c.G1011A:p.P337P 0.9 0.83 0.95 0.99 0.91 0.85 0.9209 0.8470 0.9562 0.9832 0.9527 0.9280 0.9196 0.8686 0.9 0.85 0.92 0.86 0.94 rs894469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9231 0.8465 0.9523 0.8944 0.9819 0.9508 0.9274 0.9297 0.8689 0.9156 0.8483 0.9403 0.9073 0.9772 0.9559 0.9362 0.9358 hom 3149.06 106 1 146672906 . C T 3149.06 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2429;MQ=60.00;MQ0=0;QD=29.71;VQSLOD=8.5746;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3182,250,0 1 146740502 146740502 C G exonic CHD1L nonsynonymous SNV CHD1L:NM_001256338:exon4:c.C438G:p.H146Q,CHD1L:NM_001256337:exon5:c.C207G:p.H69Q,CHD1L:NM_001348454:exon5:c.C594G:p.H198Q,CHD1L:NM_001348456:exon5:c.C207G:p.H69Q,CHD1L:NM_001348463:exon6:c.C207G:p.H69Q,CHD1L:NM_001348466:exon6:c.C207G:p.H69Q,CHD1L:NM_001348459:exon8:c.C207G:p.H69Q,CHD1L:NM_001348461:exon8:c.C207G:p.H69Q,CHD1L:NM_001348464:exon8:c.C207G:p.H69Q,CHD1L:NM_001256336:exon9:c.C750G:p.H250Q,CHD1L:NM_001348453:exon9:c.C711G:p.H237Q,CHD1L:NM_001348455:exon9:c.C561G:p.H187Q,CHD1L:NM_001348457:exon9:c.C207G:p.H69Q,CHD1L:NM_001348458:exon9:c.C207G:p.H69Q,CHD1L:NM_001348460:exon9:c.C207G:p.H69Q,CHD1L:NM_001348465:exon9:c.C207G:p.H69Q,CHD1L:NM_001348452:exon10:c.C834G:p.H278Q,CHD1L:NM_001348462:exon10:c.C207G:p.H69Q,CHD1L:NM_004284:exon10:c.C1050G:p.H350Q,CHD1L:NM_024568:exon10:c.C711G:p.H237Q,CHD1L:NM_001348451:exon11:c.C834G:p.H278Q 0.15 0.0076 0.19 0.11 0.23 0.25 0.2076 0.0373 0.1826 0.0920 0.2395 0.2390 0.2080 0.2532 0.17 0.047 0.23 0.098 0.24 rs17356233 . . . . . . . . . . . . . 0.289 0.150 T 0.396 0.329 B 0.249 0.373 B 0.019 0.273 N 0.999 0.588 P -0.505 0.026 N -0.14 0.650 T -1.51 0.387 N 0.088 0.256 -1.037 0.183 T 0.032 0.137 T . . . 1.424 0.234 12.91 0.944 0.241 0.561 0.298 D c -0.778 -0.685 0.714 0.228 0.707 0.730 0 -0.764 0.104 0.223 0.174 0.004 0.136 0.311 0.252 0.864 0.361 8.959 0.348 Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase|SNF2-related\x2c N-terminal domain;P-loop containing nucleoside triphosphate hydrolase ENSG00000131781.8|ENSG00000131778.13|ENSG00000131778.13|ENSG00000131778.13|ENSG00000131781.8|ENSG00000131778.13|ENSG00000131778.13|ENSG00000131791.6|ENSG00000131778.13|ENSG00000131791.6|ENSG00000131781.8|ENSG00000131778.13|ENSG00000227242.2|ENSG00000271721.1|ENSG00000131781.8|ENSG00000131778.13|ENSG00000131778.13 Artery_Aorta|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.2096 0.0365 0.1932 0.1848 0.0883 0.2433 0.2398 0.2242 0.2531 0.1796 0.0384 0.2057 0.1755 0.1012 0.2350 0.2514 0.2510 het 509.91 41 1 146740502 . C G 509.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.630;DP=41;Dels=0.00;FS=1.204;HRun=0;HaplotypeScore=1.6828;MQ=56.54;MQ0=0;MQRankSum=-0.952;QD=12.44;ReadPosRankSum=-1.813;VQSLOD=2.9116;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,20:41:99:540,0,528 1 146751782 146751782 A C exonic CHD1L synonymous SNV CHD1L:NM_001256338:exon9:c.A1011C:p.I337I,CHD1L:NM_001256337:exon10:c.A780C:p.I260I,CHD1L:NM_001348454:exon10:c.A1167C:p.I389I,CHD1L:NM_001348456:exon10:c.A780C:p.I260I,CHD1L:NM_001348463:exon11:c.A780C:p.I260I,CHD1L:NM_001348466:exon11:c.A780C:p.I260I,CHD1L:NM_001348459:exon13:c.A780C:p.I260I,CHD1L:NM_001348461:exon13:c.A780C:p.I260I,CHD1L:NM_001348464:exon13:c.A780C:p.I260I,CHD1L:NM_001256336:exon14:c.A1323C:p.I441I,CHD1L:NM_001348453:exon14:c.A1284C:p.I428I,CHD1L:NM_001348455:exon14:c.A1134C:p.I378I,CHD1L:NM_001348457:exon14:c.A780C:p.I260I,CHD1L:NM_001348458:exon14:c.A780C:p.I260I,CHD1L:NM_001348460:exon14:c.A780C:p.I260I,CHD1L:NM_001348465:exon14:c.A780C:p.I260I,CHD1L:NM_001348452:exon15:c.A1407C:p.I469I,CHD1L:NM_001348462:exon15:c.A780C:p.I260I,CHD1L:NM_004284:exon15:c.A1623C:p.I541I,CHD1L:NM_024568:exon15:c.A1284C:p.I428I,CHD1L:NM_001348451:exon16:c.A1407C:p.I469I 0.97 0.94 0.99 0.99 0.96 0.97 0.9658 0.9422 0.9863 0.9844 0.9568 0.9640 0.9570 0.9678 0.95 0.94 0.96 0.95 0.98 rs7547279 COSM5446904 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9662 0.9420 0.9845 0.9523 0.9828 0.9566 0.9640 0.9669 0.9681 0.9597 0.9420 0.9761 0.9536 0.9790 0.9605 0.9666 0.9654 hom 2483.07 81 1 146751782 . A C 2483.07 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=30.66;VQSLOD=9.0785;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2516,196,0 1 146767149 146767149 G T exonic CHD1L nonsynonymous SNV CHD1L:NM_001256338:exon17:c.G2041T:p.A681S,CHD1L:NM_001256337:exon18:c.G1810T:p.A604S,CHD1L:NM_001348454:exon18:c.G2197T:p.A733S,CHD1L:NM_001348456:exon18:c.G1810T:p.A604S,CHD1L:NM_001348463:exon19:c.G1810T:p.A604S,CHD1L:NM_001348466:exon19:c.G1810T:p.A604S,CHD1L:NM_001348459:exon21:c.G1810T:p.A604S,CHD1L:NM_001348461:exon21:c.G1810T:p.A604S,CHD1L:NM_001348464:exon21:c.G1810T:p.A604S,CHD1L:NM_001256336:exon22:c.G2353T:p.A785S,CHD1L:NM_001348453:exon22:c.G2314T:p.A772S,CHD1L:NM_001348455:exon22:c.G2164T:p.A722S,CHD1L:NM_001348457:exon22:c.G1810T:p.A604S,CHD1L:NM_001348458:exon22:c.G1810T:p.A604S,CHD1L:NM_001348460:exon22:c.G1810T:p.A604S,CHD1L:NM_001348465:exon22:c.G1810T:p.A604S,CHD1L:NM_001348452:exon23:c.G2437T:p.A813S,CHD1L:NM_001348462:exon23:c.G1810T:p.A604S,CHD1L:NM_004284:exon23:c.G2653T:p.A885S,CHD1L:NM_024568:exon23:c.G2314T:p.A772S,CHD1L:NM_001348451:exon24:c.G2437T:p.A813S 0.97 0.94 0.99 0.99 0.96 0.97 0.9666 0.9426 0.9863 0.9843 0.9594 0.9651 0.9592 0.9681 0.95 0.94 0.96 0.95 0.98 rs4950394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9671 0.9427 0.9846 0.9524 0.9828 0.9589 0.9653 0.9672 0.9687 0.9605 0.9425 0.9760 0.9536 0.9784 0.9619 0.9677 0.9663 hom 2850.02 99 1 146767149 . G T 2850.02 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=28.79;VQSLOD=8.0769;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2883,229,0 1 147091972 147091972 C T exonic BCL9 nonsynonymous SNV BCL9:NM_004326:exon8:c.C2011T:p.P671S 0.18 0.023 0.21 0.098 0.41 0.23 0.3143 0.0726 0.1612 0.0864 0.4724 0.4154 0.3205 0.2204 0.3 0.089 0.4 0.15 0.39 rs3820129 . . . . . . . . . . . . . 0.02 0.496 D 0.079 0.230 B 0.037 0.218 B 0.000 0.843 N 0.000 0.588 P 1.555 0.395 L 0.53 0.551 T -1.87 0.437 N 0.066 0.052 -1.031 0.201 T 0.065 0.268 T . . . 3.160 0.439 22.6 0.998 0.923 0.988 0.866 D c -0.070 0.076 1.000 0.747 0.707 0.730 0 3.92 0.444 5.999 0.701 0.892 0.403 1.000 0.715 1.000 0.888 13.156 0.588 . ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.3143 0.0645 0.1736 0.3412 0.0848 0.4616 0.4187 0.3293 0.2244 0.3084 0.0747 0.2231 0.3411 0.0812 0.4587 0.4336 0.3814 het 923.96 80 1 147091972 . C T 923.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.180;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5983;MQ=59.46;MQ0=0;MQRankSum=2.445;QD=11.55;ReadPosRankSum=1.502;VQSLOD=5.4120;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,39:80:99:954,0,1115 1 147119273 147119273 G A exonic ACP6 synonymous SNV ACP6:NM_016361:exon10:c.C1239T:p.H413H 0.48 0.43 0.63 0.42 0.58 0.4 0.5342 0.4534 0.6485 0.3729 0.5860 0.5752 0.5198 0.4039 0.53 0.46 0.57 0.51 0.54 rs1344 COSM4415726 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5414 0.4555 0.6416 0.5814 0.3649 0.5792 0.5754 0.5553 0.4081 0.5355 0.4559 0.6205 0.5563 0.3507 0.5750 0.5882 0.5224 het 2474.97 214 1 147119273 . G A 2474.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.312;DP=214;Dels=0.00;FS=2.444;HRun=0;HaplotypeScore=3.7729;MQ=59.23;MQ0=0;MQRankSum=1.157;QD=11.57;ReadPosRankSum=-0.879;VQSLOD=6.0120;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,101:214:99:2505,0,2809 1 147121977 147121977 C T exonic ACP6 nonsynonymous SNV ACP6:NM_001323625:exon8:c.G946A:p.V316M,ACP6:NM_016361:exon8:c.G946A:p.V316M 0.98 0.94 1. 1. 1. 1. 0.9958 0.9538 0.9987 1 1 0.9999 0.9978 1 0.99 0.96 1. 0.99 1. rs6593795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9968 0.9531 0.9986 1 1 1 0.9999 0.9985 0.9999 0.9867 0.9542 0.9964 1 1 1 0.9998 0.9949 hom 4104.88 137 1 147121977 . C T 4104.88 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.70;MQ0=0;QD=29.96;VQSLOD=9.2062;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4104,319,0 1 147124310 147124310 T G exonic ACP6 synonymous SNV ACP6:NM_001323625:exon7:c.A823C:p.R275R,ACP6:NM_016361:exon7:c.A823C:p.R275R . . . . . . 0.7107 0.7639 0.8290 0.7137 0.7340 0.7119 0.6894 0.5795 0.73 0.76 0.71 0.77 0.7 rs2153463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7135 0.7601 0.8231 0.6668 0.7069 0.7342 0.7108 0.7130 0.5841 0.7312 0.7639 0.7590 0.6788 0.7019 0.7259 0.7184 0.6969 hom 2871.10 93 1 147124310 . T G 2871.10 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.75;MQ0=0;QD=30.87;VQSLOD=8.9045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2904,244,0 1 149906413 149906413 T C exonic MTMR11 nonsynonymous SNV MTMR11:NM_181873:exon5:c.A259G:p.M87V,MTMR11:NM_001145862:exon6:c.A475G:p.M159V 0.23 0.015 0.26 0.28 0.37 0.29 0.3353 0.0734 0.2340 0.3203 0.3196 0.3997 0.3675 0.3232 0.3 0.087 0.4 0.22 0.38 rs11205303 COSM146598;COSM3927611 1(stomach);1(haematopoietic_and_lymphoid_tissue);2(prostate);1(thyroid);1(large_intestine);1(biliary_tract) . . . . . Height 1.25 . 23563607 rs11205303 4E-23 0.193 0.220 T 0.0 0.257 B 0.001 0.267 B 0.019 0.272 N 0.927 0.271 P 1.725 0.447 L -1.56 0.818 D -1.13 0.291 N 0.066 0.052 -0.951 0.408 T 0.227 0.592 T . . . 0.057 0.099 3.155 0.904 0.191 0.583 0.304 D c -0.474 -0.329 1.000 0.437 0.651 0.465 0 2.65 0.305 0.555 0.230 0.144 0.231 1.000 0.715 0.998 0.697 7.499 0.265 PH domain-like ENSG00000272993.1|ENSG00000261716.1|ENSG00000183558.5 Artery_Tibial|Artery_Tibial|Artery_Tibial 0.3331 0.0685 0.2379 0.2852 0.3305 0.3081 0.4076 0.3544 0.3300 0.2885 0.0799 0.2679 0.3179 0.3677 0.3170 0.3900 0.3684 het 1206.33 122 1 149906413 . T C 1206.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.598;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7295;MQ=59.24;MQ0=0;MQRankSum=-0.108;QD=9.89;ReadPosRankSum=-1.492;VQSLOD=6.1346;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,51:122:99:1236,0,1923 1 150199123 150199123 G T exonic ANP32E nonsynonymous SNV ANP32E:NM_001280560:exon4:c.C332A:p.A111E 0.6 0.92 0.47 0.55 0.43 0.5 0.4619 0.8455 0.4464 0.4921 0.3963 0.4110 0.4306 0.4470 0.55 0.82 0.42 0.54 0.35 rs7522034 COSM1179736 3(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P . . . 8.07 0.003 T 1.92 0.004 N . . -1.083 0.067 T 0.000 0.000 T . . . 0.443 0.137 6.978 0.225 0.009 0.205 0.209 N c -0.940 -0.912 0.205 0.182 0.707 0.730 0 -3.24 0.048 0.091 0.148 -0.209 0.100 0.996 0.391 0.997 0.653 1.400 0.021 Leucine-rich repeat domain\x2c L domain-like ENSG00000143374.10 Muscle_Skeletal 0.4469 0.8531 0.4272 0.3425 0.4884 0.4088 0.4103 0.4226 0.4317 0.5430 0.8411 0.4642 0.33 0.4888 0.3853 0.4250 0.4722 het 725.78 63 1 150199123 . G T 725.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.069;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.20;MQ0=0;MQRankSum=-0.752;QD=11.52;ReadPosRankSum=-0.765;VQSLOD=6.5156;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,29:63:99:756,0,844 1 150526044 150526044 G C exonic ADAMTSL4 nonsynonymous SNV ADAMTSL4:NM_001288607:exon6:c.G577C:p.A193P,ADAMTSL4:NM_001288608:exon6:c.G577C:p.A193P,ADAMTSL4:NM_019032:exon6:c.G577C:p.A193P,ADAMTSL4:NM_025008:exon6:c.G577C:p.A193P 0.53 0.61 0.43 0.57 0.53 0.44 0.5231 0.5974 0.5111 0.5486 0.6540 0.5257 0.5088 0.4090 0.55 0.59 0.53 0.52 0.4 rs41317515 COSM4142595;COSM4142597;COSM4142596 2(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Ectopia_lentis RCV000252416.1|RCV000290467.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0013581:ORPHA1885:74969002 . . . . . . 0.703 0.076 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.205 0.041 N 0.23 0.631 T 1.43 0.011 N 0.012 0.003 -1.058 0.123 T 0.031 0.132 T . . . -1.198 0.025 0.007 0.673 0.081 0.006 0.026 N c -1.688 -1.744 1.000 0.747 0.660 0.495 0 -4.57 0.032 -1.171 0.032 -1.198 0.016 0.000 0.063 0.007 0.100 3.170 0.061 . ENSG00000143452.11|ENSG00000259357.1|ENSG00000163131.6|ENSG00000259357.1|ENSG00000259357.1|ENSG00000143452.11|ENSG00000259357.1|ENSG00000163131.6|ENSG00000143452.11|ENSG00000143369.10|ENSG00000259357.1|ENSG00000163131.6|ENSG00000259357.1|ENSG00000143452.11|ENSG00000237781.2|ENSG00000143382.9|ENSG00000259357.1|ENSG00000163131.6|ENSG00000143457.6|ENSG00000259357.1|ENSG00000259357.1|ENSG00000259357.1|ENSG00000259357.1|ENSG00000259357.1|ENSG00000163131.6|ENSG00000143452.11|ENSG00000259357.1|ENSG00000143457.6|ENSG00000259357.1|ENSG00000143452.11|ENSG00000259357.1|ENSG00000143457.6|ENSG00000143452.11|ENSG00000259357.1|ENSG00000143457.6|ENSG00000259357.1|ENSG00000143452.11|ENSG00000259357.1|ENSG00000259357.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid|Whole_Blood 0.5217 0.5967 0.5041 0.4282 0.5461 0.6497 0.5267 0.5237 0.4083 0.5506 0.5922 0.5048 0.41 0.5344 0.6406 0.5133 0.5390 het 2260.67 158 1 150526044 . G C 2260.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.315;DP=158;Dels=0.00;FS=2.045;HRun=1;HaplotypeScore=1.9325;MQ=59.38;MQ0=0;MQRankSum=0.886;QD=14.31;ReadPosRankSum=0.381;VQSLOD=6.4420;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,82:158:99:2291,0,1969 1 150531008 150531008 T C exonic ADAMTSL4 synonymous SNV ADAMTSL4:NM_019032:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_025008:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_001288607:exon16:c.T2325C:p.N775N,ADAMTSL4:NM_001288608:exon16:c.T2511C:p.N837N 0.81 0.65 0.9 0.84 0.93 0.83 0.9067 0.6932 0.9114 0.8448 0.9779 0.9479 0.9283 0.8743 0.87 0.7 0.95 0.77 0.95 rs10888382 COSM4142602;COSM4142600;COSM4142601 1(thyroid) Benign|Benign not_specified|Ectopia_lentis RCV000252118.1|RCV000377315.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0013581:ORPHA1885:74969002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9122 0.6897 0.9081 0.9223 0.8471 0.9796 0.9487 0.9229 0.8775 0.8775 0.7013 0.9069 0.9172 0.8525 0.9800 0.9532 0.9254 het 714.37 79 1 150531008 . T C 714.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.364;DP=79;Dels=0.00;FS=0.875;HRun=0;HaplotypeScore=3.1930;MQ=58.53;MQ0=0;MQRankSum=1.601;QD=9.04;ReadPosRankSum=0.457;VQSLOD=5.8276;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,31:79:99:744,0,1290 1 150531050 150531050 G A exonic ADAMTSL4 synonymous SNV ADAMTSL4:NM_019032:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_025008:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_001288607:exon16:c.G2367A:p.P789P,ADAMTSL4:NM_001288608:exon16:c.G2553A:p.P851P 0.88 0.83 0.84 0.98 0.84 0.9 0.8676 0.8374 0.8824 0.9745 0.8780 0.8452 0.8786 0.9056 0.84 0.84 0.85 0.85 0.79 rs10749657 COSM5827499;COSM3750346;COSM423780 1(large_intestine) Benign|Benign not_specified|Ectopia_lentis RCV000244123.1|RCV000264056.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0013581:ORPHA1885:74969002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8705 0.8398 0.8863 0.8168 0.9774 0.8807 0.8483 0.8514 0.9025 0.8591 0.8438 0.8520 0.8113 0.9852 0.8723 0.8533 0.8476 het 1219.96 78 1 150531050 . G A 1219.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.893;DP=78;Dels=0.00;FS=0.909;HRun=0;HaplotypeScore=1.5317;MQ=59.11;MQ0=0;MQRankSum=0.693;QD=15.64;ReadPosRankSum=-0.546;VQSLOD=5.7532;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,51:78:99:1250,0,643 1 150531170 150531170 C T exonic ADAMTSL4 synonymous SNV ADAMTSL4:NM_025008:exon15:c.C2604T:p.H868H 0.92 0.71 0.98 1. 1. 1. 0.9768 0.7455 0.9892 1 1 0.9994 0.9867 0.9996 0.92 0.75 1. 0.88 0.95 rs10749658 COSM4142603 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9814 0.7395 0.9866 0.9999 1 1 0.9993 0.9894 0.9995 0.9275 0.7477 0.9833 1 0.9994 1 0.9991 0.9827 hom 910.56 31 1 150531170 . C T 910.56 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.25;MQ0=0;QD=29.37;VQSLOD=7.8718;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:78.20:944,78,0 1 150771703 150771703 T C exonic CTSK synonymous SNV CTSK:NM_000396:exon7:c.A831G:p.A277A 0.96 0.9 0.99 0.99 1. 0.97 0.9887 0.9257 0.9940 0.9946 1 0.9986 0.9890 0.9771 0.98 0.94 1. 0.95 1. rs10788796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9900 0.9230 0.9932 0.9931 0.9935 1 0.9988 0.9918 0.9776 0.9788 0.9308 0.9905 1 0.9883 1 0.9989 0.9898 hom 5063.25 176 1 150771703 . T C 5063.25 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8805;MQ=59.18;MQ0=0;QD=28.77;VQSLOD=7.5486;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5062,397,0 1 150970577 150970577 G T exonic MINDY1 nonsynonymous SNV MINDY1:NM_001040217:exon8:c.C728A:p.T243K,MINDY1:NM_001163259:exon8:c.C869A:p.T290K,MINDY1:NM_001163260:exon8:c.C728A:p.T243K,MINDY1:NM_001163258:exon9:c.C1298A:p.T433K,MINDY1:NM_001319998:exon9:c.C1154A:p.T385K,MINDY1:NM_018379:exon9:c.C1154A:p.T385K 0.94 0.79 0.99 1. 1. 1. 0.9830 0.8149 0.9918 1 1 0.9995 0.9912 0.9997 0.94 0.83 1. 0.94 1. rs2925741 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.067 0.218 N 1 0.090 P -0.695 0.019 N 0.94 0.453 T -0.25 0.110 N 0.008 0.332 -1.008 0.275 T 0.018 0.076 T . . . 1.710 0.267 14.47 0.777 0.116 0.004 0.019 N c -0.985 -0.841 1.000 0.747 0.707 0.730 0 3.1 0.346 2.484 0.447 0.152 0.238 0.854 0.303 0.981 0.494 9.653 0.389 . . . 0.9866 0.8150 0.9905 0.9998 1 1 0.9994 0.9914 0.9996 0.9494 0.8235 0.9893 1 1 1 0.9992 0.9929 hom 6138.88 177 1 150970577 . G T 6138.88 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8633;MQ=59.54;MQ0=0;QD=34.68;VQSLOD=9.5402;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:6138,472,0 1 150999737 150999737 A G exonic PRUNE1 synonymous SNV PRUNE1:NM_001303243:exon4:c.A105G:p.K35K,PRUNE1:NM_001303229:exon5:c.A162G:p.K54K,PRUNE1:NM_001303242:exon6:c.A708G:p.K236K,PRUNE1:NM_021222:exon6:c.A708G:p.K236K 0.28 0.25 0.2 0.46 0.21 0.25 0.2530 0.2480 0.2094 0.5021 0.2196 0.2311 0.2356 0.2589 0.24 0.26 0.23 0.3 0.23 rs11204762 COSM5618993 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2502 0.2508 0.2064 0.1878 0.5092 0.2257 0.2326 0.2213 0.2590 0.2508 0.2489 0.1862 0.1722 0.5204 0.2252 0.2341 0.2495 het 922.92 102 1 150999737 . A G 922.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.998;DP=102;Dels=0.00;FS=6.646;HRun=1;HaplotypeScore=1.8533;MQ=59.35;MQ0=0;MQRankSum=-0.167;QD=9.05;ReadPosRankSum=-0.299;VQSLOD=4.9297;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,37:102:99:953,0,1754 1 151006539 151006539 C A exonic PRUNE1 synonymous SNV PRUNE1:NM_001303243:exon6:c.C588A:p.G196G,PRUNE1:NM_001303229:exon7:c.C645A:p.G215G,PRUNE1:NM_001303242:exon7:c.C1032A:p.G344G,PRUNE1:NM_021222:exon8:c.C1191A:p.G397G 0.51 0.44 0.52 0.6 0.5 0.52 0.8457 0.8195 0.8703 0.8703 0.8266 0.8560 0.8337 0.7989 0.85 0.82 0.87 0.73 0.79 rs3738476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8485 0.8179 0.8691 0.8464 0.8739 0.8284 0.8606 0.8387 0.8000 0.8398 0.8138 0.8842 0.8808 0.8716 0.8281 0.8520 0.8248 hom 4703.86 155 1 151006539 . C A 4703.86 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=58.66;MQ0=0;QD=30.35;VQSLOD=9.0137;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4703,391,0 1 151011325 151011325 C T exonic BNIPL nonsynonymous SNV BNIPL:NM_001159642:exon4:c.C10T:p.R4C,BNIPL:NM_138278:exon4:c.C256T:p.R86C 0.047 0.003 0.065 . 0.14 0.053 0.1010 0.0228 0.0436 0.0005 0.1119 0.1418 0.1130 0.0728 0.1 0.031 0.14 0.076 0.12 rs61751619 . . . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.95 0.671 D 0.023 0.265 N 0.014 0.458 P 2.6 0.763 M 1.1 0.574 T -4.03 0.743 D 0.331 0.422 -0.433 0.710 T 0.280 0.652 T . . . 7.347 0.949 34 0.999 0.996 0.912 0.528 D c 0.712 0.665 1.000 0.415 0.615 0.372 0 5.15 0.702 2.075 0.409 0.920 0.431 1.000 0.715 0.993 0.574 14.012 0.639 . . . 0.0997 0.0209 0.0500 0.1084 0.0003 0.1153 0.1451 0.0978 0.0711 0.0960 0.0289 0.0644 0.1291 0.0018 0.1151 0.1395 0.1334 het 1070.24 88 1 151011325 . C T 1070.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.210;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0285;MQ=58.51;MQ0=0;MQRankSum=-0.471;QD=12.16;ReadPosRankSum=-0.930;VQSLOD=4.6052;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,42:88:99:1100,0,1278 1 151105824 151105824 C G exonic SEMA6C synonymous SNV SEMA6C:NM_001178062:exon19:c.G1905C:p.P635P,SEMA6C:NM_030913:exon19:c.G1929C:p.P643P,SEMA6C:NM_001178061:exon20:c.G2025C:p.P675P 0.76 0.54 0.79 0.9 0.81 0.83 0.8219 0.6405 0.8530 0.9228 0.8032 0.8229 0.8278 0.8306 0.73 0.59 0.81 0.7 0.52 rs4971006 COSM3750353;COSM3750352 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8066 0.5819 0.8306 0.8331 0.9188 0.7848 0.8030 0.8008 0.8261 0.7422 0.5887 0.8282 0.83 0.9210 0.7879 0.7915 0.7894 hom 287.88 11 1 151105824 . C G 287.88 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7887;MQ=57.87;MQ0=0;QD=26.17;VQSLOD=6.7007;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:27.07:321,27,0 1 151108137 151108137 T G exonic SEMA6C nonsynonymous SNV SEMA6C:NM_001178062:exon13:c.A1243C:p.T415P,SEMA6C:NM_001178061:exon14:c.A1363C:p.T455P,SEMA6C:NM_030913:exon14:c.A1363C:p.T455P 0.82 0.76 0.81 0.9 0.82 0.84 0.8189 0.7720 0.8428 0.9196 0.7759 0.8098 0.8194 0.8327 0.8 0.78 0.81 0.85 0.88 rs4971007 . . . . . . . . . . . . . 0.536 0.069 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.990 0.242 P 0.87 0.215 L 2.84 0.107 T 0.71 0.022 N 0.098 0.100 -0.967 0.378 T 0.009 0.031 T . . . 2.148 0.319 17.17 0.876 0.168 0.189 0.202 N c -0.508 -0.333 1.000 0.747 0.778 0.996 0 4.64 0.572 0.500 0.221 0.073 0.181 0.940 0.324 0.945 0.419 10.287 0.426 Sema domain|WD40/YVTN repeat-like-containing domain ENSG00000143443.9|ENSG00000163155.7|ENSG00000197622.8|ENSG00000163141.14|ENSG00000197622.8|ENSG00000143443.9|ENSG00000143443.9|ENSG00000261168.1|ENSG00000163141.14 Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.8197 0.7702 0.8403 0.8391 0.9188 0.7864 0.8063 0.8085 0.8349 0.7970 0.7722 0.8449 0.8344 0.9188 0.7887 0.7963 0.8057 hom 3227.04 100 1 151108137 . T G 3227.04 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=59.81;MQ0=0;QD=32.27;VQSLOD=9.8010;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3260,253,0 1 151209063 151209063 C T exonic PIP5K1A synonymous SNV PIP5K1A:NM_001135636:exon8:c.C933T:p.Y311Y,PIP5K1A:NM_001135637:exon8:c.C930T:p.Y310Y,PIP5K1A:NM_001330689:exon8:c.C933T:p.Y311Y,PIP5K1A:NM_003557:exon8:c.C930T:p.Y310Y,PIP5K1A:NM_001135638:exon9:c.C969T:p.Y323Y 0.64 0.67 0.61 0.61 0.7 0.6 0.6618 0.6631 0.6352 0.6259 0.5970 0.6892 0.6788 0.6130 0.69 0.66 0.7 0.71 0.66 rs12407426 COSM4142615;COSM4142616 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6600 0.6647 0.6368 0.6473 0.6315 0.5980 0.6975 0.6576 0.6128 0.6708 0.6669 0.6360 0.6126 0.6464 0.5916 0.6982 0.6561 hom 1668.60 63 1 151209063 . C T 1668.60 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.98;MQ0=2;QD=26.49;VQSLOD=6.9009;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1702,129,0 1 151239051 151239051 T C exonic PSMD4 synonymous SNV PSMD4:NM_001330692:exon9:c.T960C:p.S320S,PSMD4:NM_002810:exon9:c.T951C:p.S317S 0.64 0.64 0.62 0.61 0.7 0.6 0.6640 0.6383 0.6394 0.6288 0.6015 0.6949 0.6810 0.6152 0.68 0.64 0.7 0.71 0.67 rs7489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6607 0.6381 0.6371 0.6477 0.6314 0.5983 0.7021 0.6593 0.6133 0.6653 0.6412 0.6325 0.6126 0.6432 0.5912 0.7028 0.6507 hom 1519.81 59 1 151239051 . T C 1519.81 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4718;MQ=60.00;MQ0=0;QD=25.76;VQSLOD=5.8409;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1553,138,0 1 151288172 151288172 G A exonic PI4KB synonymous SNV PI4KB:NM_001198774:exon2:c.C786T:p.D262D,PI4KB:NM_002651:exon3:c.C822T:p.D274D,PI4KB:NM_001198773:exon4:c.C786T:p.D262D,PI4KB:NM_001330721:exon4:c.C786T:p.D262D 0.51 0.27 0.57 0.58 0.63 0.59 0.5932 0.3304 0.6124 0.5756 0.5389 0.6368 0.6258 0.5987 0.55 0.34 0.65 0.52 0.66 rs1056847 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5978 0.3271 0.6072 0.6252 0.5774 0.5409 0.6440 0.6063 0.5968 0.5368 0.3366 0.5849 0.5894 0.5646 0.5330 0.6439 0.5918 hom 3495.34 102 1 151288172 . G A 3495.34 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5983;MQ=59.55;MQ0=0;QD=34.27;VQSLOD=9.9415;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3495,298,0 1 151288391 151288391 A G exonic PI4KB synonymous SNV PI4KB:NM_001198774:exon2:c.T567C:p.D189D,PI4KB:NM_002651:exon3:c.T603C:p.D201D,PI4KB:NM_001198773:exon4:c.T567C:p.D189D,PI4KB:NM_001330721:exon4:c.T567C:p.D189D 0.98 0.92 1. 1. 1. 1. 0.9934 0.9273 0.9970 1 1 0.9999 0.9967 0.9998 0.98 0.93 1. 0.99 1. rs1752379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9947 0.9259 0.9963 1 0.9999 1 0.9999 0.9976 0.9997 0.9779 0.9229 0.9964 1 1 1 0.9997 0.9939 hom 5711.30 190 1 151288391 . A G 5711.30 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8937;MQ=60.00;MQ0=0;QD=30.06;VQSLOD=8.6742;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:5710,472,0 1 151315287 151315287 G C exonic RFX5 nonsynonymous SNV RFX5:NM_000449:exon11:c.C1226G:p.P409R,RFX5:NM_001025603:exon11:c.C1226G:p.P409R 0.064 0.003 0.099 . 0.17 0.075 0.1188 0.0269 0.0659 0.0005 0.1261 0.1618 0.1355 0.0980 0.12 0.035 0.16 0.11 0.09 rs2233854 COSM3750354 1(large_intestine) Likely benign|Benign SCID_due_to_absent_class_II_HLA_antigens|not_specified RCV000268166.1|RCV000454528.1 MedGen:OMIM:SNOMED_CT|MedGen C0242583:209920:71904008|CN169374 . . . . . . 0.001 0.784 D 0.435 0.391 B 0.12 0.306 B 0.126 0.188 N 0.984 0.248 P 1.845 0.488 L 1.32 0.352 T -1.3 0.408 N 0.22 0.373 -1.093 0.051 T 0.033 0.144 T . . . 1.879 0.287 15.46 0.985 0.413 0.588 0.305 D c -0.217 -0.216 0.998 0.359 0.707 0.730 0 3.26 0.363 1.782 0.381 0.108 0.203 0.839 0.300 0.011 0.114 8.749 0.336 RFX5\x2c C-terminal . . 0.1178 0.0250 0.0717 0.1159 0.0004 0.1252 0.1664 0.1171 0.0992 0.1128 0.0340 0.0754 0.1258 0.0018 0.1251 0.1673 0.1480 het 2653.67 242 1 151315287 . G C 2653.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.477;DP=242;DS;Dels=0.00;FS=0.520;HRun=0;HaplotypeScore=7.6247;MQ=59.26;MQ0=0;MQRankSum=-0.669;QD=10.97;ReadPosRankSum=-0.417;VQSLOD=4.1788;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,112:242:99:2684,0,3646 1 151316161 151316161 G A exonic RFX5 synonymous SNV RFX5:NM_000449:exon9:c.C753T:p.L251L,RFX5:NM_001025603:exon9:c.C753T:p.L251L 0.98 0.92 1. 1. 1. 1. 0.9934 0.9267 0.9970 1 1 0.9999 0.9967 0.9998 0.98 0.93 1. 0.99 0.93 rs1752386 . . Benign not_specified RCV000455174.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9947 0.9253 0.9963 1 1 1 0.9999 0.9976 0.9998 0.9778 0.9227 0.9964 1 1 1 0.9997 0.9939 hom 2851.69 84 1 151316161 . G A 2851.69 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4947;MQ=59.03;MQ0=0;QD=33.95;VQSLOD=9.0679;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2885,232,0 1 151337690 151337690 G C exonic SELENBP1 nonsynonymous SNV SELENBP1:NM_001258288:exon9:c.C926G:p.S309C,SELENBP1:NM_001258289:exon10:c.C1238G:p.S413C,SELENBP1:NM_003944:exon10:c.C1112G:p.S371C 0.0014 . 0.0058 . 0.003 . 0.0015 0.0005 0.0004 0 0.0008 0.0024 0.0012 0 0.0014 0.0014 0.0014 . . rs146726959 . . . . . . . . . . . . . 0.131 0.266 T 0.0 0.067 B 0.001 0.063 B 0.379 0.134 N 1 0.090 N -0.705 0.018 N . . . -0.59 0.176 N 0.062 0.219 -1.055 0.130 T 0.032 0.138 T 0.003 0.078 T -0.025 0.091 2.350 0.717 0.094 0.042 0.096 N c -1.300 -1.305 0.975 0.296 0.632 0.406 0 -2.99 0.051 -0.945 0.040 -1.011 0.022 0.000 0.063 0.018 0.130 22.513 1.000 WD40/YVTN repeat-like-containing domain . . 0.0014 0.0004 0.0004 0.0002 0 0.0018 0.0025 0.0013 0 0.0013 0.0002 0.0012 0 0 0.0029 0.0017 0.0020 het 624.58 50 1 151337690 . G C 624.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.474;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.78;MQ0=0;MQRankSum=-0.531;QD=12.49;ReadPosRankSum=0.551;VQSLOD=4.8045;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,26:50:99:655,0,540 1 151341570 151341570 C T exonic SELENBP1 synonymous SNV SELENBP1:NM_001258289:exon4:c.G396A:p.S132S,SELENBP1:NM_003944:exon4:c.G270A:p.S90S 0.0072 . 0.0058 . 0.028 0.0041 0.0164 0.0037 0.0072 0.0002 0.0426 0.0225 0.0122 0.0044 0.018 0.0043 0.025 . 0.0082 rs41284998 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0166 0.0034 0.0066 0.0022 0.0003 0.0417 0.0237 0.0139 0.0048 0.0180 0.0048 0.0095 0.0067 0 0.0461 0.0216 0.0193 het 2089.27 137 1 151341570 . C T 2089.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.667;DP=137;Dels=0.00;FS=1.407;HRun=0;HaplotypeScore=3.8609;MQ=58.79;MQ0=0;MQRankSum=-1.072;QD=15.25;ReadPosRankSum=1.150;VQSLOD=4.9472;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,78:137:99:2119,0,1382 1 151372138 151372138 G A exonic PSMB4 synonymous SNV PSMB4:NM_002796:exon1:c.G75A:p.P25P 0.49 0.33 0.47 0.21 0.83 0.67 0.6746 0.3679 0.3699 0.2253 0.7729 0.8191 0.7159 0.6900 0.67 0.39 0.82 0.48 0.8 rs7172 COSM3996916 4(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6680 0.3595 0.3947 0.7913 0.2228 0.7727 0.8214 0.7160 0.6879 0.6426 0.3709 0.5 0.79 0.2119 0.7784 0.8138 0.7429 hom 6158.26 199 1 151372138 . G A 6158.26 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.471;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2304;MQ=58.88;MQ0=0;MQRankSum=-1.349;QD=30.95;ReadPosRankSum=1.628;VQSLOD=5.5319;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,198:199:99:6126,459,0 1 151740666 151740666 T C exonic OAZ3 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9998 0.9976 0.9998 1 1 1 1 1 1. 1. 1. 1. . rs2495397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9974 0.9999 1 1 1 1 0.9998 1 0.9988 0.9960 1 1 1 1 1 0.9990 hom 1710.59 47 1 151740666 . T C 1710.59 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8311;MQ=59.60;MQ0=0;QD=36.40;VQSLOD=8.8733;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1744,138,0 1 151820298 151820298 G C exonic THEM5 nonsynonymous SNV THEM5:NM_182578:exon5:c.C616G:p.L206V 1. 0.99 1. 1. 1. 1. 0.9988 0.9861 0.9997 1 1 1 1 1 1. 0.99 1. 0.98 1. rs6587624 . . . . . . . . . . . . . 0.788 0.032 T 0.0 0.026 B 0.001 0.040 B 0.089 0.204 N 1 0.090 P -1.215 0.008 N 2.4 0.156 T -0.2 0.102 N 0.087 0.349 -0.957 0.398 T 0.009 0.032 T . . . -1.113 0.028 0.009 0.423 0.031 0.001 0.008 N c -0.858 -0.875 0.999 0.382 0.447 0.083 0 3.13 0.349 0.008 0.130 0.000 0.135 0.007 0.175 0.090 0.185 3.983 0.089 HotDog domain|Thioesterase domain . . 0.9990 0.9850 0.9997 1 1 1 1.0000 0.9998 1 0.9958 0.9852 1 1 1 1 1 1 hom 3166.52 105 1 151820298 . G C 3166.52 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.34;MQ0=0;QD=30.16;VQSLOD=8.9141;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3200,247,0 1 151820324 151820324 T C exonic THEM5 nonsynonymous SNV THEM5:NM_182578:exon5:c.A590G:p.D197G 0.78 0.88 0.87 0.68 0.83 0.63 0.7861 0.8749 0.8821 0.6513 0.9032 0.8020 0.7841 0.6225 0.83 0.86 0.81 0.69 0.79 rs6587625 . . . . . . . . . . . . . 0.921 0.023 T 0.0 0.026 B 0.0 0.013 B 0.001 0.406 N 1.000 0.197 P -2.175 0.001 N 2.71 0.121 T 3.22 0.001 N 0.083 0.571 -0.965 0.383 T 0.009 0.031 T . . . 0.415 0.134 6.742 0.508 0.044 0.038 0.090 N c -0.472 -0.352 1.000 0.467 0.554 0.283 0 4.17 0.481 0.703 0.251 0.002 0.136 0.998 0.411 0.818 0.342 7.141 0.246 HotDog domain|Thioesterase domain ENSG00000159445.8|ENSG00000234614.1 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.7909 0.8750 0.8853 0.6049 0.6565 0.9036 0.8124 0.7951 0.6205 0.8357 0.8676 0.8684 0.61 0.6675 0.9030 0.8240 0.8082 hom 2869.03 91 1 151820324 . T C 2869.03 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=31.53;VQSLOD=9.7653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2902,226,0 1 151825991 151825991 G T exonic THEM5 synonymous SNV THEM5:NM_182578:exon1:c.C51A:p.G17G 0.63 0.74 0.56 0.66 0.69 0.42 0.6443 0.7405 0.5834 0.6253 0.8264 0.6736 0.6575 0.4440 0.69 0.72 0.68 0.63 0.63 rs7556386 COSM4142630 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6469 0.7397 0.6065 0.4519 0.6326 0.8294 0.6851 0.6459 0.4441 0.7184 0.7402 0.6226 0.46 0.6525 0.8253 0.7012 0.6748 hom 5757.09 204 1 151825991 . G T 5757.09 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9909;MQ=58.97;MQ0=0;QD=28.22;VQSLOD=7.7804;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:5,199:204:99:5756,472,0 1 151867560 151867560 G A exonic THEM4 synonymous SNV THEM4:NM_053055:exon2:c.C210T:p.D70D 0.92 0.9 0.91 0.95 0.92 0.94 0.9148 0.9125 0.9121 0.9453 0.9138 0.9116 0.8877 0.9171 0.91 0.91 0.91 0.9 0.89 rs3762427 COSM5983438 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9154 0.9126 0.9144 0.8937 0.9447 0.9165 0.9134 0.9110 0.9159 0.9126 0.9123 0.9117 0.9067 0.9352 0.9147 0.9107 0.9020 hom 3098.94 111 1 151867560 . G A 3098.94 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8149;MQ=50.25;MQ0=4;QD=27.92;VQSLOD=2.8641;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:4,107:111:99:3132,253,0 1 152085505 152085505 A C exonic TCHH nonsynonymous SNV TCHH:NM_007113:exon3:c.T188G:p.L63R 0.99 0.96 1. 1. 1. 1. 0.9970 0.9659 0.9984 1 1 0.9999 0.9989 0.9998 0.99 0.97 1. 0.99 1. rs2515663 . . . . . . . . . . . . . 1.0 0.010 T 0.197 0.279 B 0.003 0.080 B . . . 0.948 0.266 P -1.75 0.003 N 2.55 0.138 T 4.59 0.000 N 0.08 0.072 -0.948 0.413 T 0.003 0.009 T . . . 1.590 0.253 13.80 0.933 0.224 0.011 0.039 N c -1.068 -0.867 0.984 0.306 0.598 0.340 0 4.58 0.559 0.520 0.224 0.065 0.171 0.254 0.247 0.854 0.356 10.346 0.429 EF-Hand 1\x2c calcium-binding site|EF-hand domain|EF-hand domain pair|S100/Calbindin-D9k\x2c conserved site . . 0.9975 0.9648 0.9984 1 1 1 0.9999 0.9985 0.9998 0.9901 0.9659 0.9964 1 1 1 0.9997 0.9969 hom 1798.72 62 1 152085505 . A C 1798.72 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=29.01;VQSLOD=8.4978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1832,156,0 1 152191709 152191709 C G exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.G2396C:p.S799T 0.53 0.47 0.55 0.33 0.83 0.51 0.7062 0.5120 0.5248 0.3894 0.8246 0.8285 0.7219 0.5783 0.73 0.52 0.83 0.65 0.84 rs6662450 COSM1180639 2(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.807 0.031 T 0.334 0.315 B 0.014 0.158 B . . . 1 0.090 P 2.095 0.583 M 3.47 0.052 T -0.82 0.225 N 0.033 0.013 -0.921 0.455 T 0.003 0.010 T . . . 0.114 0.105 3.757 0.461 0.036 0.119 0.167 N c -0.991 -1.046 0.001 0.076 0.487 0.133 0 2.17 0.266 -0.418 0.071 0.760 0.310 0.000 0.063 0.002 0.062 7.835 0.284 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid 0.7026 0.5096 0.5378 0.6920 0.3887 0.8253 0.8363 0.7162 0.5809 0.7219 0.5213 0.6098 0.6954 0.4034 0.8242 0.8516 0.7771 het 2437.70 171 1 152191709 . C G 2437.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.307;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5036;MQ=59.40;MQ0=0;MQRankSum=-0.382;QD=14.26;ReadPosRankSum=-0.113;VQSLOD=5.0623;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,88:171:99:2468,0,2352 1 152191879 152191879 G A exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.C2226T:p.H742H 0.56 0.53 0.56 0.38 0.83 0.51 0.7143 0.5783 0.5271 0.4128 0.8243 0.8290 0.7269 0.5802 0.75 0.59 0.83 0.71 0.84 rs10788828 COSM5425303 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7097 0.5774 0.5413 0.6956 0.4127 0.8252 0.8367 0.7226 0.5829 0.7432 0.5906 0.6146 0.6987 0.4269 0.8242 0.8523 0.7827 het 4073.40 250 1 152191879 . G A 4073.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.535;DP=250;DS;Dels=0.00;FS=4.457;HRun=0;HaplotypeScore=4.8311;MQ=59.40;MQ0=0;MQRankSum=0.724;QD=16.29;ReadPosRankSum=-1.383;VQSLOD=3.8494;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,124:250:99:3366,0,3328 1 152192555 152192555 T C exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.A1550G:p.Y517C 0.29 0.024 0.39 0.6 0.14 0.43 0.2286 0.0396 0.4476 0.5706 0.1683 0.1484 0.2335 0.3634 0.11 0.047 0.14 0.16 0.11 rs41266134 COSM4142667 1(thyroid) . . . . . . . . . . . 0.087 0.324 T 0.003 0.102 B 0.001 0.040 B . . . 1 0.090 P 2.36 0.681 M 4.67 0.018 T -1.31 0.328 N 0.082 0.075 -0.915 0.462 T 0.001 0.003 T . . . -1.570 0.015 0.002 0.454 0.035 0.003 0.014 N c -1.753 -1.875 0.005 0.108 0.554 0.283 0 -6.02 0.020 -6.226 0.001 -0.889 0.027 0.000 0.063 0.000 0.016 0.352 0.003 . ENSG00000197915.5|ENSG00000143631.10|ENSG00000163207.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Thyroid|Thyroid|Thyroid 0.2408 0.0360 0.4297 0.2799 0.5678 0.1673 0.1399 0.2413 0.3603 0.1385 0.0413 0.3556 0.2748 0.5562 0.1663 0.1262 0.1810 het 4411.91 250 1 152192555 . T C 4411.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.362;DP=250;DS;Dels=0.00;FS=4.368;HRun=0;HaplotypeScore=5.3818;MQ=59.52;MQ0=0;MQRankSum=1.956;QD=17.65;ReadPosRankSum=-1.298;VQSLOD=2.8804;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,125:250:99:3704,0,3435 1 152192631 152192631 C T exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.G1474A:p.G492R 0.56 0.53 0.56 0.38 0.83 0.51 0.7142 0.5772 0.5270 0.4129 0.8243 0.8290 0.7269 0.5803 0.75 0.59 0.83 0.6 0.84 rs6587647 COSM3996925 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.0 0.912 D 0.105 0.244 B 0.007 0.121 B . . . 1 0.090 P 1.77 0.460 L 3.37 0.059 T -3.94 0.733 D 0.061 0.045 -0.916 0.461 T 0.004 0.014 T . . . 0.349 0.128 6.160 0.530 0.048 0.002 0.009 N c -1.410 -1.508 0.000 0.042 0.554 0.283 0 -3.36 0.046 -3.280 0.006 -0.832 0.030 0.000 0.063 0.000 0.016 8.767 0.337 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid 0.7097 0.5775 0.5412 0.6956 0.4126 0.8253 0.8367 0.7226 0.5830 0.7421 0.5893 0.6175 0.7 0.4261 0.8239 0.8513 0.7803 het 4688.82 250 1 152192631 . C T 4688.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.763;DP=250;DS;Dels=0.00;FS=2.920;HRun=0;HaplotypeScore=7.9810;MQ=59.15;MQ0=0;MQRankSum=-1.127;QD=18.76;ReadPosRankSum=-0.124;VQSLOD=2.6034;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,132:250:99:3974,0,3103 1 152192687 152192687 T C exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.A1418G:p.E473G 0.94 0.79 0.98 1. 1. 1. 0.9857 0.8434 0.9947 0.9997 1 0.9996 0.9901 0.9998 0.95 0.85 1. 0.88 1. rs6587648 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.905 0.002 N 4.63 0.019 T 1.82 0.005 N 0.04 0.020 -0.989 0.328 T 0.001 0.003 T . . . -0.603 0.050 0.123 0.739 0.102 0.002 0.009 N c -1.820 -1.810 0.000 0.029 0.554 0.283 0 -0.456 0.115 -0.100 0.109 -0.577 0.045 0.000 0.063 0.000 0.016 6.671 0.221 . . . 0.9890 0.8433 0.9935 0.9999 1 1 0.9996 0.9934 0.9995 0.9571 0.8506 0.9916 1 1 1 0.9993 0.9929 hom 9064.67 250 1 152192687 . T C 9064.67 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=36.26;VQSLOD=9.1164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:9064,719,0 1 152192825 152192825 C T exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.G1280A:p.G427D 0.35 0.21 0.28 0.29 0.59 0.39 0.4962 0.2507 0.2859 0.3500 0.6308 0.5938 0.5055 0.4261 0.48 0.26 0.59 0.29 0.59 rs6666097 COSM5425304 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.009 0.574 D 0.895 0.473 P 0.356 0.412 B . . . 1 0.090 P 2.395 0.694 M 3.69 0.041 T -2.21 0.496 N 0.089 0.086 -0.886 0.493 T 0.004 0.012 T . . . 0.157 0.109 4.223 0.718 0.094 0.013 0.045 N c -0.641 -0.807 0.000 0.029 0.554 0.246 0 0.311 0.150 -2.616 0.009 0.756 0.309 0.000 0.063 0.001 0.043 3.523 0.073 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143520.6|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Prostate|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Uterus 0.4923 0.2513 0.2977 0.4456 0.3501 0.6313 0.5998 0.4974 0.4274 0.4974 0.2610 0.3437 0.4669 0.3632 0.6377 0.6219 0.5666 het 2860.70 222 1 152192825 . C T 2860.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.533;DP=222;DS;Dels=0.00;FS=5.689;HRun=0;HaplotypeScore=4.3230;MQ=59.11;MQ0=0;MQRankSum=-0.492;QD=12.89;ReadPosRankSum=-0.652;VQSLOD=4.2352;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:114,107:222:99:2891,0,3407 1 152192978 152192978 T C exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.A1127G:p.Q376R 0.94 0.79 0.98 1. 1. 1. 0.9858 0.8434 0.9947 1 1 0.9996 0.9901 0.9998 0.95 0.85 1. 0.99 1. rs6587649 . . . . . . . . . . . . . 0.122 0.276 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.66 0.426 L 4.04 0.032 T -0.61 0.181 N 0.01 0.001 -0.909 0.470 T 0.002 0.005 T . . . -1.796 0.011 0.002 0.349 0.022 0.009 0.036 N c -1.967 -2.055 0.766 0.236 0.554 0.246 0 -8.53 0.008 -3.176 0.006 -2.900 0.002 0.000 0.063 0.000 0.016 8.919 0.346 . . . 0.9890 0.8433 0.9935 0.9999 1 1.0000 0.9996 0.9938 0.9995 0.9570 0.8503 0.9916 1 1 0.9997 0.9993 0.9928 hom 8001.23 249 1 152192978 . T C 8001.23 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.19;MQ0=0;QD=32.13;VQSLOD=9.4751;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7999,677,0 1 152193286 152193286 G T exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.C819A:p.H273Q 0.35 0.21 0.28 0.29 0.59 0.39 0.4964 0.2538 0.2861 0.3485 0.6308 0.5937 0.5066 0.4261 0.48 0.26 0.59 0.32 0.58 rs7545406 COSM146613 1(stomach);2(haematopoietic_and_lymphoid_tissue);4(prostate) . . . . . . . . . . . 0.237 0.179 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P 1.825 0.480 L 4.09 0.030 T -0.23 0.107 N 0.014 0.002 -0.901 0.480 T 0.001 0.003 T . . . -2.245 0.005 0.001 0.624 0.068 0.001 0.008 N c -2.211 -2.311 0.932 0.270 0.487 0.133 0 -8.81 0.007 -2.345 0.012 -3.409 0.001 0.000 0.063 0.000 0.016 0.981 0.013 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143520.6|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Prostate|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Uterus 0.4925 0.2544 0.2979 0.4455 0.3500 0.6313 0.5998 0.4974 0.4274 0.4977 0.2640 0.3398 0.4669 0.3611 0.6375 0.6214 0.5629 het 4097.83 249 1 152193286 . G T 4097.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.383;DP=249;DS;Dels=0.00;FS=2.845;HRun=1;HaplotypeScore=7.8084;MQ=58.95;MQ0=0;MQRankSum=0.897;QD=16.46;ReadPosRankSum=0.047;VQSLOD=3.7051;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:132,117:249:99:3387,0,4082 1 152193291 152193291 G T exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.C814A:p.R272R 0.56 0.53 0.56 0.38 0.83 0.51 0.7141 0.5780 0.5271 0.4110 0.8243 0.8290 0.7269 0.5802 0.75 0.59 0.83 0.71 0.84 rs6587652 COSM146614 2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7096 0.5772 0.5412 0.6956 0.4126 0.8252 0.8367 0.7225 0.5829 0.7413 0.5884 0.6118 0.6987 0.4234 0.8238 0.8511 0.7780 het 4065.34 250 1 152193291 . G T 4065.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.000;DP=250;DS;Dels=0.00;FS=6.980;HRun=2;HaplotypeScore=6.7689;MQ=58.85;MQ0=0;MQRankSum=1.923;QD=16.26;ReadPosRankSum=-0.543;VQSLOD=3.1664;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3372,0,3502 1 152193544 152193544 A G exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.T561C:p.H187H 0.53 0.47 0.55 0.33 0.83 0.51 0.7062 0.5122 0.5246 0.3890 0.8243 0.8285 0.7219 0.5787 0.73 0.52 0.83 0.65 0.84 rs7535536 COSM146615 1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7027 0.5101 0.5379 0.6920 0.3884 0.8253 0.8363 0.7162 0.5812 0.7222 0.5216 0.6089 0.6954 0.4065 0.8237 0.8517 0.7796 het 2411.21 166 1 152193544 . A G 2411.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.895;DP=166;DS;Dels=0.00;FS=2.273;HRun=1;HaplotypeScore=3.6282;MQ=59.49;MQ0=0;MQRankSum=0.286;QD=14.53;ReadPosRankSum=0.673;VQSLOD=5.4601;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,82:166:99:2441,0,2415 1 152193547 152193547 G A exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.C558T:p.S186S 0.94 0.79 0.98 1. 1. 1. 0.9858 0.8432 0.9947 1 1 0.9996 0.9901 0.9998 0.95 0.85 1. 0.99 1. rs6587653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9890 0.8433 0.9935 0.9999 1 1 0.9996 0.9934 0.9995 0.9570 0.8498 0.9916 1 1 1 0.9993 0.9929 hom 5773.36 164 1 152193547 . G A 5773.36 Mask AC=2;AF=1.00;AN=2;DP=164;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8820;MQ=59.48;MQ0=0;QD=35.20;VQSLOD=8.4097;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:5773,460,0 1 152193851 152193851 C T exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.G254A:p.R85H 0.53 0.47 0.55 0.33 0.83 0.51 0.7062 0.5128 0.5252 0.3880 0.8243 0.8284 0.7219 0.5788 0.73 0.52 0.83 0.64 0.83 rs11204937 COSM3996926 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.402 0.104 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.209 P -0.69 0.019 N 3.31 0.063 T 1.36 0.009 N 0.037 0.017 -0.915 0.463 T 0.002 0.007 T . . . 1.036 0.193 10.87 0.625 0.068 0.447 0.271 N c -1.219 -1.043 0.000 0.029 0.595 0.332 0 0.954 0.186 0.506 0.222 -1.985 0.005 1.000 0.715 0.000 0.016 7.362 0.258 EF-hand domain pair ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid 0.7026 0.5103 0.5380 0.6919 0.3883 0.8254 0.8363 0.7162 0.5812 0.7224 0.5230 0.6098 0.6954 0.4012 0.8236 0.8520 0.7786 het 1701.69 110 1 152193851 . C T 1701.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.870;DP=110;Dels=0.00;FS=2.476;HRun=0;HaplotypeScore=0.9159;MQ=59.43;MQ0=0;MQRankSum=-0.816;QD=15.47;ReadPosRankSum=-0.199;VQSLOD=6.4481;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,63:110:99:1732,0,1280 1 152195729 152195729 T - exonic HRNR startloss HRNR:NM_001009931:exon2:c.1delA:p.P2Ffs*14 0.87 0.73 0.88 0.95 0.96 0.89 0.7530 0.6723 0.7212 0.7208 0.7655 0.7694 0.7599 0.7773 . . . . . rs530205886 COSM111478 2(ovary);2(upper_aerodigestive_tract);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9028 0.7227 0.8276 0.9554 0.9063 0.9541 0.9411 0.9142 0.9069 0.9402 0.8073 0.9367 1 0.9932 0.9970 0.9975 0.9806 hom 1025.28 63 1 152195728 . AT A 1025.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.299;DP=63;FS=0.000;HRun=11;HaplotypeScore=175.9091;MQ=58.18;MQ0=0;MQRankSum=0.433;QD=16.27;ReadPosRankSum=0.072;set=variant2 GT:AD:DP:GQ:PL 1/1:13,47:63:99:1067,109,0 1 152276889 152276889 A G exonic FLG synonymous SNV FLG:NM_002016:exon3:c.T10473C:p.N3491N 0.52 0.79 0.46 0.65 0.15 0.46 0.3007 0.7136 0.4828 0.5955 0.1741 0.1563 0.2753 0.3950 0.33 0.69 0.15 0.34 0.11 rs3126067 COSM3996931 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3003 0.7195 0.4690 0.2978 0.5952 0.1728 0.1479 0.2800 0.3924 0.3308 0.6970 0.4038 0.2872 0.5775 0.1718 0.1322 0.2195 het 2807.25 248 1 152276889 . A G 2807.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.215;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2590;MQ=56.95;MQ0=1;MQRankSum=0.209;QD=11.32;ReadPosRankSum=0.053;VQSLOD=3.7358;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:141,107:248:99:2837,0,4187 1 152277345 152277345 C T exonic FLG synonymous SNV FLG:NM_002016:exon3:c.G10017A:p.Q3339Q 0.29 0.011 0.39 0.58 0.14 0.43 0.2293 0.0312 0.4480 0.5600 0.1730 0.1495 0.2313 0.3733 0.11 0.036 0.14 0.14 0.11 rs2065956 COSM3996933 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2422 0.0286 0.4292 0.2814 0.5591 0.1717 0.1415 0.2423 0.3711 0.1370 0.0346 0.3565 0.2748 0.5479 0.1697 0.1271 0.1779 het 3146 248 1 152277345 . C T 3146 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.072;DP=248;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.6094;MQ=58.58;MQ0=2;MQRankSum=2.173;QD=12.69;ReadPosRankSum=-0.529;VQSLOD=2.2472;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:138,110:248:99:3176,0,4175 1 152277396 152277396 T C exonic FLG synonymous SNV FLG:NM_002016:exon3:c.A9966G:p.Q3322Q 0.34 0.12 0.42 0.61 0.17 0.49 0.2611 0.1267 0.4638 0.5814 0.1810 0.1719 0.2511 0.4299 0.16 0.13 0.17 0.2 0.16 rs6681433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2721 0.1287 0.4474 0.3061 0.5786 0.1796 0.1644 0.2678 0.4277 0.1772 0.1296 0.3717 0.3013 0.5631 0.1801 0.1483 0.1926 het 4381.22 249 1 152277396 . T C 4381.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.094;DP=249;DS;Dels=0.00;FS=2.168;HRun=1;HaplotypeScore=4.5556;MQ=59.20;MQ0=0;MQRankSum=-1.133;QD=17.60;ReadPosRankSum=0.579;VQSLOD=4.0377;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,122:249:99:3658,0,3688 1 152281007 152281007 A G exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.T6355C:p.Y2119H 0.33 0.38 0.34 0.44 0.13 0.34 0.2207 0.3608 0.3523 0.4116 0.1550 0.1381 0.2280 0.3001 0.2 0.33 0.13 . 0.11 rs7512553 COSM5037981 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 N -2.52 0.001 N 4.33 0.024 T 1.18 0.011 N 0.012 0.001 -0.997 0.308 T 0.001 0.002 T . . . -1.763 0.012 0.002 0.406 0.029 0.000 0.002 N c -2.146 -2.020 0.000 0.029 0.554 0.246 0 1.28 0.206 -0.189 0.095 -0.554 0.047 0.000 0.063 0.000 0.016 3.517 0.072 . . . 0.2243 0.3640 0.3447 0.2452 0.4126 0.1544 0.1318 0.2236 0.2979 0.2135 0.3618 0.2988 0.2282 0.4062 0.1514 0.1187 0.1830 het 2479.43 250 1 152281007 . A G 2479.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.847;DP=250;DS;Dels=0.00;FS=2.317;HRun=0;HaplotypeScore=8.8450;MQ=57.02;MQ0=1;MQRankSum=1.280;QD=9.92;ReadPosRankSum=0.824;VQSLOD=2.3650;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:158,92:250:99:2509,0,4728 1 152281008 152281008 A G exonic FLG synonymous SNV FLG:NM_002016:exon3:c.T6354C:p.H2118H 0.33 0.38 0.34 0.44 0.13 0.34 0.2207 0.3608 0.3522 0.4116 0.1550 0.1381 0.2280 0.3001 0.19 0.33 0.13 . 0.11 rs7512554 COSM5038015 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2243 0.3640 0.3447 0.2452 0.4126 0.1544 0.1318 0.2236 0.2979 0.2134 0.3616 0.2988 0.23 0.4058 0.1512 0.1184 0.1836 het 2414.22 250 1 152281008 . A G 2414.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.919;DP=250;DS;Dels=0.00;FS=5.575;HRun=0;HaplotypeScore=7.9292;MQ=57.23;MQ0=1;MQRankSum=0.208;QD=9.66;ReadPosRankSum=1.416;VQSLOD=2.2117;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:160,90:250:99:2444,0,4839 1 152281039 152281039 G A exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.C6323T:p.A2108V . . . . . . 0.2208 0.3621 0.3521 0.4111 0.1550 0.1382 0.2269 0.3001 0.21 0.36 0.13 0.054 0.11 rs7522925 COSM4142692 1(skin);1(thyroid) . . . . . . . . . . . 0.115 0.285 T 0.324 0.313 B 0.021 0.181 B . . . 1 0.090 N 1.1 0.281 L 4.67 0.018 T -1.27 0.320 N 0.011 0.001 -0.931 0.441 T 0.001 0.004 T . . . 0.896 0.179 10.05 0.386 0.026 0.006 0.025 N c -1.813 -1.956 0.013 0.124 0.554 0.246 0 -6.74 0.016 -3.262 0.006 -1.948 0.005 0.000 0.063 0.000 0.016 6.099 0.191 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid 0.2245 0.3652 0.3448 0.2452 0.4126 0.1544 0.1319 0.2235 0.2979 0.2133 0.3624 0.2990 0.23 0.4068 0.1508 0.1183 0.1818 het 2591.69 250 1 152281039 . G A 2591.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.015;DP=250;DS;Dels=0.00;FS=2.922;HRun=0;HaplotypeScore=5.2382;MQ=58.14;MQ0=0;MQRankSum=-0.387;QD=10.37;ReadPosRankSum=1.441;VQSLOD=3.7913;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:150,99:250:99:2622,0,4399 1 152281948 152281948 G A exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.C5414T:p.A1805V 0.29 0.011 0.39 0.58 0.14 0.43 0.2288 0.0312 0.4471 0.5616 0.1728 0.1493 0.2291 0.3701 0.11 0.036 0.14 0.065 0.11 rs12405241 COSM3996940 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.39 0.108 T 0.999 0.764 D 0.959 0.685 D . . . 1 0.090 P 2.71 0.795 M 4.62 0.019 T -1.73 0.410 N 0.016 0.003 -0.975 0.361 T 0.004 0.013 T . . . 0.920 0.182 10.19 0.916 0.203 0.004 0.020 N c -1.144 -1.440 0.000 0.048 0.554 0.246 0 -3.56 0.043 -5.865 0.001 -1.746 0.007 0.000 0.063 0.000 0.016 0.762 0.009 . ENSG00000197915.5|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Thyroid|Thyroid|Thyroid 0.2416 0.0286 0.4283 0.2805 0.5597 0.1713 0.1412 0.2423 0.3678 0.1372 0.0348 0.3558 0.2767 0.5496 0.1698 0.1274 0.1760 het 2974 248 1 152281948 . G A 2974 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.565;DP=248;DS;Dels=0.00;FS=4.436;HRun=0;HaplotypeScore=3.5832;MQ=58.19;MQ0=0;MQRankSum=0.918;QD=11.99;ReadPosRankSum=-1.085;VQSLOD=4.2712;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:135,113:248:99:3004,0,3916 1 152282267 152282267 G A exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.C5095T:p.R1699C 0.29 0.012 0.39 0.58 0.14 0.43 0.2288 0.0312 0.4475 0.5618 0.1728 0.1493 0.2291 0.3702 0.11 0.036 0.14 0.17 0.12 rs12405278 COSM3996941 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.002 0.721 D 0.999 0.764 D 0.912 0.630 D . . . 1 0.090 P 1.7 0.440 L 3.66 0.043 T -2.34 0.518 N 0.053 0.035 -1.024 0.223 T 0.015 0.061 T . . . 4.120 0.553 23.8 0.530 0.048 0.029 0.075 N c -0.532 -0.781 0.000 0.035 0.554 0.246 0 1.76 0.237 -0.071 0.114 -1.282 0.014 0.000 0.063 0.000 0.016 7.611 0.271 . ENSG00000197915.5|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Thyroid|Thyroid|Thyroid 0.2416 0.0286 0.4285 0.2805 0.5597 0.1713 0.1412 0.2423 0.3678 0.1369 0.0346 0.3553 0.2767 0.55 0.1697 0.1269 0.1779 het 4352.94 250 1 152282267 . G A 4352.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.871;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4919;MQ=59.29;MQ0=0;MQRankSum=1.189;QD=17.41;ReadPosRankSum=0.754;VQSLOD=3.9221;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,128:250:99:3641,0,3129 1 152282917 152282917 G T exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.C4445A:p.S1482Y 0.29 0.011 0.39 0.58 0.14 0.43 0.2287 0.0312 0.4472 0.5608 0.1728 0.1493 0.2291 0.3700 0.11 0.036 0.14 0.17 0.11 rs11204978 COSM3996942 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.005 0.632 D 0.767 0.418 P 0.341 0.407 B . . . 1 0.090 P 2.765 0.810 M 3.8 0.038 T -2.8 0.592 D 0.041 0.021 -0.973 0.366 T 0.006 0.019 T . . . 2.678 0.383 20.7 0.808 0.129 0.019 0.058 N c -0.692 -0.901 0.000 0.029 0.554 0.246 0 0.67 0.170 0.004 0.129 0.788 0.318 0.000 0.063 0.001 0.043 4.955 0.133 . ENSG00000197915.5|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Thyroid|Thyroid|Thyroid 0.2416 0.0286 0.4285 0.2805 0.5595 0.1713 0.1412 0.2425 0.3676 0.1369 0.0345 0.3565 0.2748 0.5473 0.1692 0.1269 0.1783 het 2933.13 250 1 152282917 . G T 2933.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.423;DP=250;DS;Dels=0.00;FS=0.490;HRun=0;HaplotypeScore=1.8490;MQ=59.31;MQ0=0;MQRankSum=1.125;QD=11.73;ReadPosRankSum=-0.993;VQSLOD=5.8298;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:138,112:250:99:2963,0,4009 1 152283568 152283568 T C exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.A3794G:p.H1265R 0.0054 0.0023 0.01 . 0.017 . 0.0150 0.0041 0.0086 0 0.0222 0.0225 0.0077 0.0017 0.014 0.0032 0.02 . . rs11581512 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 N -1.345 0.007 N 4.4 0.022 T 0.41 0.034 N 0.008 0.000 -0.923 0.452 T 0.000 0.002 T . . . -2.337 0.004 0.001 0.295 0.016 0.003 0.018 N c -2.218 -2.209 0.018 0.130 0.554 0.246 0 -6.78 0.016 -1.490 0.024 -1.962 0.005 0.000 0.063 0.000 0.016 6.558 0.215 . . . 0.0142 0.0031 0.0067 0.0019 5.798e-05 0.0235 0.0226 0.0170 0.0018 0.0140 0.0023 0.0108 0 0 0.0212 0.0209 0.0154 het 4175.27 250 1 152283568 . T C 4175.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.546;DP=250;DS;Dels=0.00;FS=5.382;HRun=0;HaplotypeScore=5.3071;MQ=58.84;MQ0=0;MQRankSum=-0.306;QD=16.70;ReadPosRankSum=0.345;VQSLOD=3.7797;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,124:250:99:3479,0,3420 1 152285077 152285080 ACTG - exonic FLG frameshift deletion FLG:NM_002016:exon3:c.2282_2285del:p.S761Cfs*35 0.0054 0.0015 0.0043 . 0.014 0.0082 0.0134 0.0037 0.0013 0 0.0127 0.0204 0.0088 0.0074 0.017 0.008 0.021 . . rs558269137 . . Pathogenic|other|Uncertain significance|Uncertain significance|Likely benign|Pathogenic Ichthyosis_vulgaris|Dermatitis\x2c_atopic\x2c_2\x2c_susceptibility_to|Dermatitis\x2c_atopic\x2c_2|Ichthyosis_vulgaris|not_specified|not_provided RCV000017714.28|RCV000017715.3|RCV000191085.1|RCV000191085.1|RCV000238626.1|RCV000256057.2 MedGen:OMIM|MedGen:OMIM|MedGen|MedGen C1853965:605803|C0079584:146700|CN169374|CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0129 0.0033 0.0014 0.0077 0.0001 0.0143 0.0214 0.0108 0.0072 0.0152 0.0044 0.0036 0 0 0.0160 0.0237 0.0174 het 5043.17 243 1 152285076 . CACTG C 5043.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.668;DP=243;DS;FS=0.000;HRun=0;HaplotypeScore=1540.1528;MQ=54.87;MQ0=0;MQRankSum=-2.509;QD=20.17;ReadPosRankSum=-0.849;set=variant2 GT:AD:DP:GQ:PL 0/1:137,113:243:99:5043,0,9485 1 152285930 152285930 G A exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.C1432T:p.P478S 0.34 0.13 0.42 0.61 0.17 0.49 0.2613 0.1364 0.4642 0.5820 0.1806 0.1715 0.25 0.4261 0.16 0.14 0.17 0.24 0.16 rs11584340 COSM4985363 9(soft_tissue) . . . . . . . . . . . 1.0 0.010 T 0.02 0.170 B 0.034 0.212 B . . . 1 0.090 P -2.595 0.000 N 5.59 0.009 T 1.57 0.007 N 0.013 0.002 -0.999 0.302 T 0.000 0.001 T . . . -2.430 0.004 0.001 0.668 0.079 0.000 0.002 N c -2.103 -2.073 0.000 0.044 0.554 0.246 0 -3.12 0.049 -1.806 0.018 -0.834 0.030 0.000 0.063 0.000 0.016 3.067 0.058 . ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Colon_Sigmoid|Colon_Sigmoid|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Thyroid|Thyroid|Thyroid 0.2718 0.1367 0.4474 0.3049 0.5787 0.1791 0.1639 0.2683 0.4236 0.1799 0.1390 0.3735 0.3067 0.5655 0.1786 0.1480 0.1969 het 4038.58 250 1 152285930 . G A 4038.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.144;DP=250;DS;Dels=0.00;FS=12.970;HRun=0;HaplotypeScore=2.9288;MQ=59.49;MQ0=0;MQRankSum=-0.196;QD=16.15;ReadPosRankSum=-0.714;VQSLOD=3.3452;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:127,122:250:99:3339,0,3732 1 152286002 152286002 T C exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.A1360G:p.T454A 0.46 0.52 0.45 0.66 0.17 0.49 0.2949 0.4821 0.4770 0.6055 0.1805 0.1728 0.2720 0.4278 0.27 0.47 0.17 0.3 0.17 rs2011331 COSM4142699 1(skin);1(thyroid) . . . . . . . . . . . 0.37 0.115 T 0.04 0.198 B 0.006 0.112 B . . . 1 0.090 P -0.805 0.016 N 4.4 0.022 T 0.27 0.043 N 0.012 0.001 -0.902 0.478 T 0.001 0.002 T . . . -0.146 0.080 1.414 0.412 0.029 0.001 0.006 N c -2.171 -2.249 0.786 0.239 0.487 0.133 0 -6.86 0.015 -1.309 0.028 -0.680 0.039 0.000 0.063 0.000 0.016 0.086 0.000 . ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid 0.2988 0.4876 0.4630 0.3104 0.6033 0.1791 0.1651 0.2842 0.4257 0.2778 0.4778 0.3971 0.3079 0.5852 0.1792 0.1493 0.2121 het 4548.46 250 1 152286002 . T C 4548.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.785;DP=250;DS;Dels=0.00;FS=7.129;HRun=0;HaplotypeScore=7.7081;MQ=59.39;MQ0=0;MQRankSum=-0.056;QD=18.19;ReadPosRankSum=0.218;VQSLOD=3.0629;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,140:250:99:3843,0,3069 1 152286032 152286032 C T exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.G1330A:p.G444R 0.29 0.011 0.39 0.58 0.14 0.43 0.2287 0.0312 0.4475 0.5609 0.1728 0.1492 0.2291 0.3699 0.11 0.036 0.14 0.17 0.11 rs11588170 COSM3996946 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.268 0.161 T 0.942 0.510 P 0.816 0.571 P . . . 1 0.090 P 1.985 0.540 M 5.72 0.008 T -3.15 0.641 D 0.032 0.012 -0.906 0.474 T 0.002 0.006 T . . . 0.431 0.135 6.882 0.869 0.163 0.010 0.038 N c -0.778 -1.032 0.000 0.029 0.487 0.133 0 -0.615 0.110 -0.350 0.077 -0.675 0.039 0.000 0.063 0.000 0.016 3.006 0.056 . ENSG00000197915.5|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Thyroid|Thyroid|Thyroid 0.2415 0.0286 0.4287 0.2805 0.5592 0.1714 0.1411 0.2423 0.3676 0.1366 0.0346 0.3568 0.2781 0.5443 0.1686 0.1269 0.1755 het 4812.97 250 1 152286032 . C T 4812.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.812;DP=250;DS;Dels=0.00;FS=4.303;HRun=0;HaplotypeScore=5.3525;MQ=58.96;MQ0=0;MQRankSum=0.702;QD=19.25;ReadPosRankSum=-0.617;VQSLOD=3.6324;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,135:250:99:4087,0,3444 1 152286367 152286367 C A exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.G995T:p.G332V 0.34 0.12 0.42 0.61 0.17 0.49 0.2603 0.1265 0.4634 0.5803 0.1805 0.1715 0.25 0.4261 0.16 0.13 0.17 0.24 0.16 rs41267154 . . . . . . . . . . . . . 0.089 0.321 T 1.0 0.899 D 0.995 0.818 D . . . 1 0.090 P 2.595 0.761 M 4.69 0.017 T -2.82 0.595 D 0.069 0.056 -0.920 0.455 T 0.008 0.027 T . . . 1.865 0.285 15.37 0.838 0.144 0.031 0.079 N c -0.350 -0.631 0.000 0.029 0.554 0.246 0 1.2 0.201 -0.476 0.066 0.019 0.143 0.000 0.063 0.001 0.043 5.380 0.154 . ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Colon_Sigmoid|Colon_Sigmoid|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Thyroid|Thyroid|Thyroid 0.2711 0.1286 0.4469 0.3049 0.5784 0.1791 0.1639 0.2676 0.4235 0.1770 0.1302 0.3693 0.3067 0.5636 0.1791 0.1479 0.1939 het 2793.93 235 1 152286367 . C A 2793.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.986;DP=235;DS;Dels=0.00;FS=7.758;HRun=0;HaplotypeScore=7.4945;MQ=59.58;MQ0=0;MQRankSum=2.186;QD=11.89;ReadPosRankSum=0.205;VQSLOD=3.1986;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,107:235:99:2824,0,3784 1 152323132 152323132 G T exonic FLG2 stopgain FLG2:NM_001014342:exon3:c.C7130A:p.S2377X 0.32 0.29 0.4 0.46 0.14 0.33 0.2323 0.2706 0.3766 0.4564 0.1390 0.1670 0.2302 0.2914 0.19 0.26 0.16 0.28 0.11 rs12568784 COSM3996947 1(haematopoietic_and_lymphoid_tissue);6(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . 0.971 0.257 P . . . . . . . . . . . . . . . . . . . . 10.041 0.965 36 0.959 0.276 0.041 0.094 N c -0.093 -0.473 0.000 0.029 0.487 0.133 0 0.129 0.140 0.322 0.192 -0.024 0.128 0.000 0.063 0.000 0.016 2.590 0.045 . ENSG00000237975.2|ENSG00000143536.7|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2 Artery_Tibial|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Thyroid|Thyroid 0.2348 0.2700 0.3626 0.2858 0.4602 0.1332 0.1569 0.2434 0.2893 0.1987 0.2609 0.3210 0.2815 0.4654 0.1229 0.1430 0.1973 het 2295.29 160 1 152323132 . G T 2295.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.314;DP=160;Dels=0.00;FS=0.617;HRun=1;HaplotypeScore=4.9600;MQ=59.77;MQ0=0;MQRankSum=-0.239;QD=14.35;ReadPosRankSum=1.009;VQSLOD=5.2699;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,85:160:99:2325,0,2111 1 152329435 152329435 C T exonic FLG2 nonsynonymous SNV FLG2:NM_001014342:exon3:c.G827A:p.R276Q 0.35 0.36 0.42 0.5 0.14 0.33 0.2407 0.3354 0.3791 0.4827 0.1405 0.1679 0.2368 0.2918 0.22 0.33 0.16 0.29 0.12 rs2282303 . . . . . . . . . . . . . 1.0 0.010 T 0.005 0.119 B 0.0 0.013 B . . . 1 0.090 P -0.805 0.016 N 5.81 0.007 T 0.74 0.020 N 0.028 0.009 -1.090 0.055 T 0.000 0.002 T . . . -0.283 0.070 0.726 0.482 0.039 0.002 0.011 N c -1.115 -0.987 0.022 0.134 0.487 0.133 0 3.44 0.383 1.166 0.312 -0.243 0.092 0.034 0.205 0.005 0.090 7.919 0.288 . ENSG00000237975.2|ENSG00000143536.7|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000236427.1|ENSG00000143631.10|ENSG00000237975.2 Artery_Tibial|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid|Thyroid 0.2421 0.3366 0.3647 0.2857 0.4851 0.1350 0.1582 0.2499 0.2912 0.2201 0.3276 0.3258 0.2815 0.4826 0.1234 0.1457 0.2057 het 4565.04 243 1 152329435 . C T 4565.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.425;DP=243;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.6784;MQ=58.77;MQ0=0;MQRankSum=0.776;QD=18.79;ReadPosRankSum=0.874;VQSLOD=3.5440;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,136:243:99:3917,0,2535 1 152331240 152331240 G A exonic FLG2 nonsynonymous SNV FLG2:NM_001014342:exon2:c.C121T:p.L41F 0.37 0.45 0.42 0.5 0.15 0.33 0.2485 0.4179 0.3828 0.4783 0.1399 0.1686 0.2356 0.2939 0.24 0.4 0.16 0.35 0.082 rs3818831 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.189 P -0.8 0.016 N 2.36 0.161 T 5.05 0.000 N 0.079 0.071 -0.934 0.436 T 0.005 0.017 T . . . 1.064 0.196 11.02 0.609 0.064 0.011 0.039 N c -0.791 -0.549 0.041 0.145 0.487 0.133 0 5.26 0.734 2.275 0.428 0.168 0.246 0.995 0.385 0.985 0.512 8.297 0.310 EF-hand domain|EF-hand domain pair|S100/CaBP-9k-type\x2c calcium binding\x2c subdomain ENSG00000197915.5|ENSG00000237975.2|ENSG00000143536.7|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid|Thyroid|Thyroid 0.2479 0.4205 0.3686 0.2855 0.4813 0.1335 0.1590 0.2515 0.2912 0.2424 0.4109 0.3278 0.2815 0.4763 0.1235 0.1442 0.2057 het 2538.27 206 1 152331240 . G A 2538.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.511;DP=206;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.2603;MQ=58.94;MQ0=0;MQRankSum=0.716;QD=12.32;ReadPosRankSum=0.106;VQSLOD=5.6958;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,98:206:99:2568,0,3015 1 152382120 152382120 C T exonic CRNN nonsynonymous SNV CRNN:NM_016190:exon3:c.G1438A:p.G480S 0.25 0.064 0.37 0.43 0.14 0.32 0.2071 0.0818 0.3470 0.4189 0.1373 0.1611 0.2026 0.2929 0.13 0.082 0.15 0.2 0.082 rs3829868 COSM3996949 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.101 0.303 T 0.18 0.274 B 0.079 0.272 B 0.078 0.210 N 1 0.090 P 1.195 0.303 L 3.01 0.091 T -3.08 0.633 D 0.072 0.061 -1.028 0.210 T 0.011 0.039 T . . . 1.673 0.262 14.26 0.865 0.160 0.016 0.051 N c -0.650 -0.678 0.000 0.068 0.516 0.203 0 4.01 0.457 -0.119 0.106 0.007 0.138 0.000 0.063 0.000 0.016 8.987 0.350 . ENSG00000143536.7|ENSG00000143631.10|ENSG00000237975.2 Esophagus_Mucosa|Thyroid|Thyroid 0.2126 0.0808 0.3333 0.2778 0.4213 0.1319 0.1513 0.2215 0.2874 0.1428 0.0864 0.2959 0.2616 0.4135 0.1220 0.1375 0.1840 het 1833.79 140 1 152382120 . C T 1833.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.518;DP=140;Dels=0.00;FS=7.638;HRun=1;HaplotypeScore=4.8622;MQ=59.26;MQ0=0;MQRankSum=0.677;QD=13.10;ReadPosRankSum=0.292;VQSLOD=4.9763;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,65:140:99:1864,0,2188 1 152636843 152636843 A T exonic LCE2D nonsynonymous SNV LCE2D:NM_178430:exon2:c.A262T:p.S88C 0.12 0.016 0.16 0.03 0.3 0.16 0.2081 0.0538 0.1213 0.0267 0.2156 0.2832 0.1875 0.1500 0.21 0.066 0.29 0.076 0.31 rs9793541 COSM5904691 1(skin) . . . . . . . . . . . 0.004 0.654 D 0.805 0.432 P 0.123 0.309 B . . . 1 0.090 P 2.4 0.697 M 3.35 0.060 T -3.61 0.694 D 0.046 0.026 -0.969 0.375 T 0.007 0.023 T . . . -1.301 0.022 0.004 0.323 0.019 0.045 0.099 N c -0.815 -1.017 0.000 0.029 0.487 0.133 0 0.291 0.149 0.445 0.212 0.025 0.148 0.003 0.159 0.001 0.043 4.694 0.121 . ENSG00000163206.5|ENSG00000163206.5|ENSG00000244057.2|ENSG00000172155.7|ENSG00000244057.2|ENSG00000198854.4|ENSG00000186226.7|ENSG00000198854.4|ENSG00000186226.7|ENSG00000172155.7|ENSG00000244057.2|ENSG00000244057.2 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.2052 0.0472 0.1342 0.1536 0.0262 0.2237 0.2907 0.2337 0.1490 0.1904 0.0543 0.1819 0.1424 0.0303 0.2172 0.2801 0.2213 het 1961.35 128 1 152636843 . A T 1961.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.080;DP=128;Dels=0.00;FS=2.332;HRun=0;HaplotypeScore=3.6951;MQ=57.67;MQ0=1;MQRankSum=0.666;QD=15.32;ReadPosRankSum=1.050;VQSLOD=3.8713;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,76:128:99:1991,0,1271 1 152681680 152681680 - AGCTCTGGGGGCTGCTGT exonic LCE4A nonframeshift insertion LCE4A:NM_178356:exon1:c.129_130insAGCTCTGGGGGCTGCTGT:p.C48_G49insCSSGGC 0.8 0.98 0.85 0.69 0.72 0.73 . . . . . . . . . . . . . rs6143428 COSM1334217 2(haematopoietic_and_lymphoid_tissue);22(upper_aerodigestive_tract);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7573 0.9273 0.7800 0.7061 0.6167 0.6665 0.6965 0.7040 het 12970.03 247 1 152681680 . C CAGCTCTGGGGGCTGCTGT 12970.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.443;DP=247;DS;FS=0.000;HRun=0;HaplotypeScore=2923.9669;MQ=53.71;MQ0=1;MQRankSum=-8.300;QD=52.30;ReadPosRankSum=-0.028;set=variant2 GT:AD:DP:GQ:PL 0/1:200,33:247:99:12970,0,14777 1 152732106 152732106 A T exonic KPRP nonsynonymous SNV KPRP:NM_001025231:exon2:c.A42T:p.Q14H 0.18 0.011 0.14 0.23 0.23 0.33 0.2249 0.0389 0.1592 0.2053 0.2400 0.2397 0.2346 0.3323 0.17 0.043 0.23 0.13 0.18 rs17612167 . . . . . . . . . . . . . . . . 0.681 0.395 P 0.264 0.379 B 0.051 0.230 N 1.000 0.200 P 0 0.065 N . . . . . . 0.067 0.054 -0.927 0.446 T 0.007 0.024 T . . . 2.319 0.340 18.29 0.981 0.375 0.186 0.201 N c -0.524 -0.470 1.000 0.517 0.487 0.133 0 -0.206 0.125 -0.266 0.086 -0.303 0.080 0.784 0.293 0.313 0.239 8.327 0.311 . ENSG00000172155.7 Skin_Sun_Exposed_Lower_leg 0.2226 0.0378 0.1533 0.2810 0.2042 0.2352 0.2347 0.2193 0.3301 0.1771 0.0413 0.1806 0.2815 0.2076 0.2378 0.2341 0.2150 het 2564.40 207 1 152732106 . A T 2564.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.730;DP=207;Dels=0.00;FS=1.237;HRun=0;HaplotypeScore=1.6385;MQ=59.56;MQ0=1;MQRankSum=-1.323;QD=12.39;ReadPosRankSum=-0.178;VQSLOD=5.5756;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:110,97:207:99:2594,0,3071 1 152733301 152733301 T A exonic KPRP nonsynonymous SNV KPRP:NM_001025231:exon2:c.T1237A:p.C413S 0.49 0.58 0.49 0.42 0.52 0.42 0.4814 0.5467 0.4659 0.4198 0.4508 0.4959 0.4658 0.4378 0.52 0.55 0.5 0.49 0.58 rs4329520 COSM3750365 1(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . 0.017 0.163 B 0.013 0.154 B 0.025 0.262 N 1 0.090 P 0.975 0.246 L . . . . . . 0.033 0.013 -0.968 0.376 T 0.012 0.047 T . . . 1.375 0.229 12.66 0.714 0.093 0.057 0.114 N c -1.065 -1.118 0.997 0.349 0.487 0.133 0 -0.312 0.121 -0.461 0.067 1.061 0.807 0.000 0.063 0.017 0.128 0.340 0.003 . ENSG00000163206.5|ENSG00000163206.5|ENSG00000186226.7|ENSG00000186226.7|ENSG00000203786.5|ENSG00000172155.7|ENSG00000198854.4|ENSG00000186226.7|ENSG00000186226.7|ENSG00000172155.7|ENSG00000244057.2|ENSG00000187170.4 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.4806 0.5477 0.4739 0.4260 0.4172 0.4594 0.5037 0.4832 0.4385 0.4981 0.5379 0.4797 0.4040 0.4016 0.4499 0.5003 0.4847 het 2215.20 155 1 152733301 . T A 2215.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.355;DP=155;Dels=0.00;FS=2.906;HRun=1;HaplotypeScore=4.4179;MQ=59.34;MQ0=0;MQRankSum=-0.064;QD=14.29;ReadPosRankSum=1.691;VQSLOD=4.9986;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,76:155:99:2245,0,2096 1 152749091 152749091 C T exonic LCE1F nonsynonymous SNV LCE1F:NM_178354:exon1:c.C244T:p.R82W 0.091 0.0053 0.13 0.028 0.21 0.12 0.1691 0.0342 0.1066 0.0166 0.2010 0.2238 0.1759 0.1408 0.15 0.037 0.21 0.076 0.14 rs41268480 COSM3976148 1(breast);1(lung);1(thyroid) . . . . . . . . . . . . . . 0.968 0.546 D 0.335 0.405 B . . . 0.982 0.250 P 1.995 0.543 M 3.79 0.038 T -3.0 0.623 D 0.111 0.120 -0.980 0.350 T 0.009 0.032 T . . . 4.032 0.542 23.7 0.980 0.368 0.055 0.112 N c 0.035 -0.014 0.434 0.204 0.487 0.133 0 4.45 0.532 0.710 0.252 0.928 0.438 0.072 0.219 0.444 0.261 12.773 0.566 . . . 0.1668 0.0337 0.1047 0.2655 0.0177 0.1985 0.2191 0.1823 0.1378 0.1472 0.0361 0.1319 0.2583 0.0179 0.1993 0.2110 0.1694 het 1129.08 78 1 152749091 . C T 1129.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.642;DP=78;Dels=0.00;FS=4.930;HRun=0;HaplotypeScore=3.4375;MQ=59.31;MQ0=0;MQRankSum=0.330;QD=14.48;ReadPosRankSum=-0.590;VQSLOD=4.7975;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,41:78:99:1159,0,895 1 152944594 152944594 C T exonic SPRR4 synonymous SNV SPRR4:NM_173080:exon2:c.C228T:p.S76S 0.63 0.83 0.5 0.63 0.57 0.49 0.5686 0.7981 0.4833 0.6712 0.4299 0.5685 0.5177 0.4886 0.64 0.78 0.57 0.72 0.64 rs3170863 COSM3750368 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5595 0.8050 0.4895 0.5732 0.6724 0.4439 0.5717 0.5588 0.4857 0.6167 0.7896 0.5084 0.5563 0.6565 0.4525 0.5633 0.5307 hom 4800.24 160 1 152944594 . C T 4800.24 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.38;MQ0=0;QD=30.00;VQSLOD=7.9391;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4799,394,0 1 152975715 152975715 C T exonic SPRR3 synonymous SNV SPRR3:NM_001097589:exon2:c.C219T:p.G73G,SPRR3:NM_005416:exon3:c.C219T:p.G73G 0.0004 0.0015 . . . . 0.0168 0.0279 0.0094 0.0273 0.0137 0.0155 0.0186 0.0161 . . . . 0.21 rs28989168 COSM1334263 2(urinary_tract);1(kidney);3(liver);1(oesophagus);3(skin);1(prostate);3(thyroid);5(large_intestine);2(central_nervous_system);3(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0001 0.0001 0.0013 0.0001 0.0004 0.0007 0.0014 0.0012 0.0010 0.0046 0 0 0.01 0 0.0004 0 het 426.36 78 1 152975715 . C T 426.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.806;DP=78;Dels=0.00;FS=0.955;HRun=1;HaplotypeScore=2.2772;MQ=57.62;MQ0=0;MQRankSum=1.756;QD=5.47;ReadPosRankSum=-0.037;VQSLOD=2.6755;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,27:78:99:456,0,1407 1 152975763 152975763 C A exonic SPRR3 synonymous SNV SPRR3:NM_001097589:exon2:c.C267A:p.G89G,SPRR3:NM_005416:exon3:c.C267A:p.G89G 0.52 0.5 0.43 0.63 0.53 0.51 0.1596 0.2236 0.0635 0.3024 0.0444 0.1725 0.1677 0.1312 0.54 0.52 0.54 . 0.58 rs1977734 COSM3750370 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4035 0.4141 0.2993 0.4409 0.6081 0.4233 0.3990 0.4090 0.3912 0.5421 0.5438 0.4734 0.5473 0.6588 0.5215 0.5382 0.5285 hom 3803.71 127 1 152975763 . C A 3803.71 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.801;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7987;MQ=57.75;MQ0=0;MQRankSum=3.389;QD=29.95;ReadPosRankSum=0.739;VQSLOD=5.0627;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:4,123:127:99:3803,310,0 1 152975829 152975829 A G exonic SPRR3 synonymous SNV SPRR3:NM_001097589:exon2:c.A333G:p.E111E,SPRR3:NM_005416:exon3:c.A333G:p.E111E 0.53 0.5 0.43 0.63 0.53 0.51 0.5296 0.5195 0.4394 0.6726 0.4944 0.5354 0.5055 0.5168 0.54 0.53 0.54 0.48 0.59 rs1970328 COSM3750371 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4030 0.3960 0.3165 0.4442 0.6121 0.4256 0.3906 0.4241 0.3956 0.5376 0.5134 0.4782 0.5510 0.6607 0.5219 0.5457 0.5324 hom 4430.28 137 1 152975829 . A G 4430.28 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9778;MQ=59.13;MQ0=0;QD=32.34;VQSLOD=8.9304;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4430,346,0 1 152975941 152975941 C G exonic SPRR3 nonsynonymous SNV SPRR3:NM_001097589:exon2:c.C445G:p.L149V,SPRR3:NM_005416:exon3:c.C445G:p.L149V 0.58 0.71 0.45 0.63 0.53 0.51 0.5448 0.6860 0.4460 0.6710 0.4950 0.5356 0.5144 0.5176 0.59 0.68 0.54 0.65 0.59 rs1055935 COSM3750372 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.002 0.063 B . . . 1 0.090 P -1.74 0.003 N 3.17 0.076 T 1.57 0.008 N 0.02 0.304 -0.920 0.456 T 0.002 0.006 T . . . -1.781 0.011 0.002 0.070 0.000 0.000 0.002 N c -1.541 -1.492 0.000 0.041 0.487 0.133 0 -0.145 0.127 0.010 0.130 0.016 0.142 0.000 0.063 0.002 0.062 1.562 0.024 . ENSG00000159516.8|ENSG00000234262.1|ENSG00000196805.6|ENSG00000169469.7|ENSG00000244057.2|ENSG00000169469.7|ENSG00000244057.2|ENSG00000196805.6|ENSG00000234262.1 Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.5400 0.6877 0.4529 0.5605 0.6738 0.5050 0.5382 0.5339 0.5139 0.5816 0.6729 0.4844 0.5433 0.6596 0.5209 0.5434 0.5368 hom 2758.97 85 1 152975941 . C G 2758.97 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.78;MQ0=0;QD=32.46;VQSLOD=9.3696;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2792,220,0 1 153004983 153004983 C T exonic SPRR1B synonymous SNV SPRR1B:NM_003125:exon2:c.C162T:p.P54P 0.5 0.44 0.43 0.59 0.52 0.51 0.5094 0.4670 0.4388 0.6320 0.4689 0.5156 0.4877 0.5134 0.51 0.47 0.52 0.54 0.53 rs12195 COSM3750374 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5037 0.4648 0.4403 0.5210 0.6341 0.4708 0.5119 0.5016 0.5082 0.4999 0.4571 0.4712 0.5201 0.6270 0.4914 0.5144 0.4969 hom 6922.69 228 1 153004983 . C T 6922.69 Mask AC=2;AF=1.00;AN=2;DP=228;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9274;MQ=46.15;MQ0=6;QD=30.36;VQSLOD=2.5145;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,227:228:99:6922,569,0 1 153234295 153234295 G A exonic LOR synonymous SNV LOR:NM_000427:exon2:c.G870A:p.G290G 0.19 0.38 0.15 0.069 0.23 0.058 0.2170 0.4258 0.1114 0.1119 0.2920 0.2552 0.2321 0.0741 0.21 0.3 0.17 0.15 0.19 rs12043009 COSM4142719 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1796 0.3804 0.1032 0.1750 0.0851 0.2170 0.2199 0.2050 0.0636 0.2505 0.3848 0.1280 0.1821 0.0994 0.2209 0.2071 0.2090 het 243.48 20 1 153234295 . G A 243.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.350;DP=20;Dels=0.00;FS=12.335;HRun=1;HaplotypeScore=0.0000;MQ=56.45;MQ0=0;MQRankSum=1.119;QD=12.17;ReadPosRankSum=-0.733;VQSLOD=2.3601;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,12:20:99:273,0,216 1 153277423 153277423 C T exonic PGLYRP3 nonsynonymous SNV PGLYRP3:NM_052891:exon3:c.G376A:p.G126S 0.47 0.39 0.46 0.58 0.4 0.55 0.4235 0.3820 0.4984 0.5301 0.3857 0.3792 0.4490 0.5360 0.38 0.38 0.39 0.46 0.34 rs843971 COSM3750376 2(large_intestine) . . . . . . . . . . . 0.134 0.263 T 0.911 0.484 P 0.6 0.489 P 0.000 0.497 D 0.428 0.323 P 1.23 0.308 L 2.6 0.132 T -1.88 0.439 N 0.228 0.280 -1.058 0.121 T 0.022 0.092 T . . . 4.453 0.596 24.2 0.997 0.806 0.825 0.414 D c 0.242 0.231 0.726 0.230 0.549 0.223 0 4.48 0.538 2.546 0.452 0.855 0.374 0.977 0.347 0.905 0.384 12.509 0.552 N-acetylmuramoyl-L-alanine amidase domain|Peptidoglycan recognition protein family domain\x2c metazoa/bacteria ENSG00000159527.3|ENSG00000159527.3|ENSG00000159527.3|ENSG00000229699.1 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.4247 0.3821 0.4870 0.3922 0.5302 0.3815 0.3782 0.4257 0.5284 0.3878 0.3745 0.4928 0.3411 0.5574 0.3749 0.3762 0.3776 het 1293.99 98 1 153277423 . C T 1293.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.879;DP=98;Dels=0.00;FS=2.859;HRun=1;HaplotypeScore=2.6547;MQ=59.19;MQ0=0;MQRankSum=-0.666;QD=13.20;ReadPosRankSum=2.168;VQSLOD=5.5839;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,46:98:99:1324,0,1551 1 153314153 153314153 C A exonic PGLYRP4 nonsynonymous SNV PGLYRP4:NM_020393:exon6:c.G575T:p.G192V 0.84 0.75 0.87 0.91 0.88 0.86 0.8447 0.7666 0.8040 0.8741 0.8902 0.8557 0.8502 0.8439 0.82 0.77 0.85 0.81 0.88 rs3006448 . . . . . . . . . . . . . 0.217 0.191 T 0.0 0.026 B 0.0 0.013 B 0.099 0.199 N 0.842 0.286 P -2.19 0.001 N 3.58 0.046 T 2.68 0.002 N 0.055 0.037 -0.935 0.434 T 0.001 0.004 T . . . 0.153 0.108 4.178 0.084 0.001 0.015 0.050 N c -1.016 -0.815 1.000 0.437 0.487 0.133 0 3.02 0.338 0.997 0.291 -0.244 0.091 0.928 0.320 0.249 0.227 4.553 0.114 N-acetylmuramoyl-L-alanine amidase domain|Peptidoglycan recognition protein family domain\x2c metazoa/bacteria ENSG00000163218.10|ENSG00000163218.10|ENSG00000163218.10|ENSG00000163218.10 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum 0.8445 0.76 0.8107 0.8378 0.8666 0.8910 0.8540 0.8480 0.8448 0.8346 0.7565 0.8517 0.8477 0.8603 0.8841 0.8631 0.8585 hom 7219.38 230 1 153314153 . C A 7219.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.717;DP=230;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6071;MQ=59.44;MQ0=0;MQRankSum=-0.764;QD=31.39;ReadPosRankSum=0.446;VQSLOD=8.2209;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,228:230:99:7218,587,0 1 153315579 153315579 A G exonic PGLYRP4 synonymous SNV PGLYRP4:NM_020393:exon5:c.T459C:p.F153F 0.93 0.99 0.91 0.91 0.92 0.89 0.9059 0.9774 0.8475 0.8746 0.9090 0.9125 0.9097 0.8904 0.93 0.98 0.91 0.96 0.93 rs3014863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9021 0.9775 0.8539 0.9062 0.8670 0.9084 0.9125 0.9089 0.8921 0.9265 0.9753 0.8914 0.9172 0.8581 0.9030 0.9138 0.9173 hom 3578.56 110 1 153315579 . A G 3578.56 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9916;MQ=57.99;MQ0=0;QD=32.53;VQSLOD=8.5053;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3578,310,0 1 153320372 153320372 T G exonic PGLYRP4 nonsynonymous SNV PGLYRP4:NM_020393:exon2:c.A37C:p.I13L 0.79 0.7 0.86 0.74 0.87 0.85 0.8239 0.7291 0.7888 0.7222 0.8745 0.8497 0.8289 0.8355 0.81 0.73 0.85 0.73 0.85 rs3006458 COSM4142720 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.293 N 1 0.090 P -1.935 0.002 N 3.93 0.035 T 0.33 0.039 N 0.032 0.012 -0.962 0.387 T 0.001 0.004 T . . . -0.275 0.070 0.757 0.501 0.043 0.001 0.004 N c -1.408 -1.385 0.394 0.201 0.487 0.133 0 -1.05 0.095 0.186 0.167 0.011 0.139 0.003 0.159 0.105 0.191 2.058 0.033 . ENSG00000163218.10|ENSG00000163218.10|ENSG00000163218.10|ENSG00000163218.10 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum 0.8236 0.7191 0.7944 0.7996 0.7157 0.8752 0.8514 0.8313 0.8355 0.8113 0.7160 0.8218 0.8013 0.7307 0.8625 0.8606 0.8473 hom 1856.46 63 1 153320372 . T G 1856.46 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.04;MQ0=0;QD=29.47;VQSLOD=8.5390;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1889,141,0 1 153410822 153410822 C A exonic S100A7L2 nonsynonymous SNV S100A7L2:NM_001045479:exon2:c.G17T:p.G6V 0.61 0.5 0.71 0.6 0.74 0.59 0.6923 0.5257 0.7495 0.5647 0.8026 0.7362 0.6973 0.6017 0.67 0.53 0.74 0.66 0.69 rs10888561 . . . . . . . . . . . . . 0.015 0.524 D . . . . . . . . . 1 0.217 P . . . 3.36 0.059 T 1.49 0.007 N 0.029 0.010 -0.968 0.376 T 0.013 0.050 T . . . 2.660 0.381 20.6 0.961 0.282 0.003 0.015 N c -0.297 -0.760 0.000 0.029 0.487 0.133 0 -1.48 0.082 -0.314 0.081 -2.280 0.003 0.003 0.159 0.000 0.016 2.972 0.055 EF-hand domain pair ENSG00000188015.5 Esophagus_Mucosa 0.6987 0.5230 0.7464 0.6643 0.5686 0.7998 0.7378 0.6961 0.6033 0.6861 0.5340 0.7303 0.6921 0.5612 0.8028 0.7553 0.7281 het 1233.50 101 1 153410822 . C A 1233.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.566;DP=101;Dels=0.00;FS=4.151;HRun=0;HaplotypeScore=0.9997;MQ=59.15;MQ0=0;MQRankSum=0.794;QD=12.21;ReadPosRankSum=0.311;VQSLOD=5.6722;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,54:101:99:1263,0,1279 1 153431406 153431406 C G exonic S100A7 nonsynonymous SNV S100A7:NM_002963:exon2:c.G84C:p.E28D 0.98 0.99 0.99 1. 0.96 0.99 0.9609 0.9815 0.9794 1 0.9651 0.9441 0.9581 0.9805 0.96 0.99 0.94 0.99 0.95 rs3014837 COSM5003207 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.275 0.007 N 3.5 0.050 T 1.35 0.009 N 0.019 0.004 -0.921 0.454 T 0.002 0.006 T . . . -1.121 0.028 0.009 0.089 0.001 0.000 0.002 N c -1.680 -1.657 0.000 0.071 0.497 0.185 0 -0.422 0.117 0.214 0.172 -1.265 0.014 0.037 0.206 0.004 0.083 9.678 0.390 EF-hand domain pair|S100/CaBP-9k-type\x2c calcium binding\x2c subdomain ENSG00000188015.5|ENSG00000197956.5|ENSG00000263841.1 Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Nerve_Tibial 0.9617 0.9847 0.9772 0.9611 0.9999 0.9647 0.9433 0.9555 0.9780 0.9648 0.9911 0.9749 0.9735 1 0.9636 0.9462 0.9511 hom 6992.26 238 1 153431406 . C G 6992.26 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.474;DP=238;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.6201;MQ=57.44;MQ0=0;MQRankSum=1.717;QD=29.38;ReadPosRankSum=0.753;VQSLOD=3.3617;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,232:238:99:6935,572,0 1 154108387 154108387 G A exonic NUP210L synonymous SNV NUP210L:NM_001159484:exon7:c.C912T:p.N304N,NUP210L:NM_207308:exon7:c.C912T:p.N304N 0.97 0.89 0.99 1. 1. 1. 0.9915 0.9018 0.9972 1 1 0.9995 0.9967 0.9999 0.97 0.91 1. 0.92 0.99 rs3001361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9929 0.8974 0.9965 1 1 1 0.9996 0.9974 0.9999 0.9732 0.9065 0.9952 1 1 1 0.9995 0.9969 hom 3204.91 98 1 154108387 . G A 3204.91 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4583;MQ=58.16;MQ0=0;QD=32.70;VQSLOD=8.5467;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3238,262,0 1 154310048 154310048 C G exonic ATP8B2 synonymous SNV ATP8B2:NM_001005855:exon12:c.C1062G:p.L354L 0.43 0.16 0.5 0.62 0.45 0.53 0.4682 0.1995 0.5046 0.6073 0.4155 0.4843 0.4747 0.4950 0.38 0.21 0.47 0.38 0.49 rs1760795 COSM3750389 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4728 0.1932 0.5088 0.5831 0.6069 0.4225 0.4726 0.4861 0.4968 0.3924 0.1987 0.4904 0.61 0.6054 0.4338 0.4605 0.4297 hom 7827.07 224 1 154310048 . C G 7827.07 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2049;MQ=59.41;MQ0=0;QD=34.94;VQSLOD=7.6913;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,224:224:99:7826,617,0 1 154317153 154317153 C T exonic ATP8B2 synonymous SNV ATP8B2:NM_020452:exon21:c.C2277T:p.S759S 0.42 0.12 0.49 0.62 0.45 0.53 0.4645 0.1632 0.5015 0.6057 0.4156 0.4840 0.4725 0.4946 0.37 0.18 0.47 0.38 0.48 rs1194587 COSM3750390 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4697 0.1551 0.5060 0.5824 0.6068 0.4225 0.4722 0.4850 0.4960 0.3824 0.1649 0.4844 0.6093 0.6041 0.4341 0.4600 0.4274 hom 5802.01 179 1 154317153 . C T 5802.01 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.577;DP=179;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5277;MQ=59.87;MQ0=0;MQRankSum=1.345;QD=32.41;ReadPosRankSum=-0.126;VQSLOD=7.6612;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,178:179:99:5770,423,0 1 154401679 154401679 G A exonic IL6R synonymous SNV IL6R:NM_000565:exon2:c.G93A:p.A31A,IL6R:NM_001206866:exon2:c.G93A:p.A31A,IL6R:NM_181359:exon2:c.G93A:p.A31A 0.12 0.048 0.1 0.1 0.18 0.17 0.1410 0.0609 0.0720 0.1106 0.1645 0.1655 0.1372 0.1483 0.13 0.065 0.16 0.12 0.11 rs2228144 COSM3750392 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1391 0.0602 0.0763 0.1722 0.1128 0.1635 0.1623 0.1489 0.1476 0.1293 0.0654 0.0907 0.1556 0.1043 0.1701 0.1599 0.1527 het 1931.30 163 1 154401679 . G A 1931.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.500;DP=163;Dels=0.00;FS=3.774;HRun=1;HaplotypeScore=6.7520;MQ=58.85;MQ0=0;MQRankSum=0.691;QD=11.85;ReadPosRankSum=1.439;VQSLOD=4.7506;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,77:163:99:1961,0,2133 1 154426970 154426970 A C exonic IL6R nonsynonymous SNV IL6R:NM_000565:exon9:c.A1073C:p.D358A 0.29 0.087 0.54 0.32 0.36 0.3 0.3756 0.1337 0.5677 0.3938 0.3027 0.4011 0.3861 0.3104 0.32 0.15 0.4 0.25 0.4 rs2228145 COSM5505526 1(biliary_tract) other|other Soluble_interleukin-6_receptor\x2c_serum_level_of\x2c_quantitative_trait_locus|Interleukin_6\x2c_serum_level_of\x2c_quantitative_trait_locus RCV000015767.2|RCV000029243.2 MedGen:OMIM|MedGen:OMIM C3553493:614689|C3540094:614752 Rheumatoid arthritis 0.93 . 24390342 rs2228145 5E-6 0.242 0.176 T 0.123 0.252 B 0.02 0.179 B 0.000 0.002 N 0.999 0.474 P . . . 2.34 0.164 T -1.94 0.450 N 0.198 0.417 -0.977 0.358 T 0.117 0.413 T . . . 0.226 0.116 4.955 0.924 0.212 0.423 0.266 N c -0.258 -0.362 1.000 0.451 0.653 0.482 0 2.85 0.322 0.519 0.224 1.199 0.960 0.048 0.211 0.642 0.297 6.5 0.212 . ENSG00000160712.8 Whole_Blood 0.3791 0.1271 0.5490 0.4129 0.3806 0.2896 0.3962 0.3986 0.3069 0.3044 0.1364 0.5228 0.45 0.3780 0.2971 0.3790 0.3347 het 735.50 49 1 154426970 . A C 735.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.518;DP=49;Dels=0.00;FS=1.342;HRun=0;HaplotypeScore=0.9933;MQ=59.24;MQ0=0;MQRankSum=0.090;QD=15.01;ReadPosRankSum=0.831;VQSLOD=6.6243;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,26:49:99:765,0,571 1 154474131 154474131 C G exonic SHE synonymous SNV SHE:NM_001010846:exon1:c.G372C:p.R124R 0.78 0.56 0.88 0.91 0.82 0.81 0.8280 0.6084 0.9121 0.9128 0.8375 0.8322 0.8531 0.8381 0.76 0.62 0.83 0.72 0.82 rs4845635 COSM3750395 1(breast);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8364 0.6045 0.9081 0.8329 0.9115 0.8380 0.8345 0.8355 0.8373 0.7802 0.6171 0.8950 0.8477 0.9172 0.8303 0.8374 0.8330 het 388.56 38 1 154474131 . C G 388.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.555;DP=38;Dels=0.00;FS=2.928;HRun=0;HaplotypeScore=0.9332;MQ=57.89;MQ0=0;MQRankSum=0.526;QD=10.23;ReadPosRankSum=-0.671;VQSLOD=4.3925;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,19:38:99:419,0,477 1 154516477 154516477 G A exonic TDRD10 nonsynonymous SNV TDRD10:NM_001098475:exon9:c.G542A:p.R181Q,TDRD10:NM_182499:exon9:c.G542A:p.R181Q 0.13 0.014 0.25 0.031 0.31 0.13 0.2324 0.0487 0.2446 0.0225 0.2977 0.3011 0.2544 0.1444 0.22 0.061 0.31 0.13 0.3 rs12750774 COSM146636 1(stomach) . . . . . . . . . . . 0.345 0.157 T 0.29 0.306 B 0.015 0.179 B 0.570 0.112 N 1 0.090 P 0.345 0.112 N 1.97 0.225 T -0.4 0.138 N 0.017 0.003 -0.976 0.359 T 0.010 0.036 T . . . 0.133 0.107 3.967 0.914 0.201 0.010 0.038 N c -1.241 -1.306 0.370 0.199 0.560 0.301 0 -1.63 0.079 -0.462 0.067 -1.173 0.016 0.018 0.193 0.016 0.126 8.531 0.323 . . . 0.2365 0.0477 0.2436 0.2449 0.0208 0.2969 0.3053 0.2611 0.1434 0.2134 0.0577 0.2673 0.2616 0.0173 0.2911 0.3003 0.2577 het 2231.83 210 1 154516477 . G A 2231.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.688;DP=210;DS;Dels=0.00;FS=0.539;HRun=1;HaplotypeScore=7.3324;MQ=59.05;MQ0=0;MQRankSum=0.305;QD=10.63;ReadPosRankSum=-0.555;VQSLOD=4.7925;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,87:210:99:2262,0,3273 1 154516571 154516571 T C exonic TDRD10 synonymous SNV TDRD10:NM_001098475:exon9:c.T636C:p.A212A,TDRD10:NM_182499:exon9:c.T636C:p.A212A 0.9 0.64 0.98 1. 1. 1. 0.9728 0.7049 0.9864 1 0.9998 0.9993 0.9835 0.9993 0.9 0.72 1. 0.88 0.99 rs6678164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9786 0.7012 0.9849 0.9998 0.9999 0.9998 0.9992 0.9872 0.9993 0.9212 0.7236 0.9893 1 1 1 0.9993 0.9888 hom 3678.15 109 1 154516571 . T C 3678.15 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=59.40;MQ0=0;QD=33.74;VQSLOD=9.2759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3678,289,0 1 154573967 154573967 T C exonic ADAR nonsynonymous SNV ADAR:NM_001025107:exon2:c.A266G:p.K89R,ADAR:NM_001111:exon2:c.A1151G:p.K384R,ADAR:NM_001193495:exon2:c.A266G:p.K89R,ADAR:NM_015840:exon2:c.A1151G:p.K384R,ADAR:NM_015841:exon2:c.A1151G:p.K384R 0.62 0.37 0.76 0.67 0.67 0.77 0.6956 0.4141 0.8305 0.7166 0.6630 0.7022 0.6542 0.7564 0.61 0.43 0.7 0.58 0.63 rs2229857 . . Benign|Benign not_specified|Symmetrical_dyschromatosis_of_extremities RCV000175658.2|RCV000380536.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0406775:127400:ORPHA41:239085000 . . . . . . 0.381 0.113 T 0.0 0.067 B 0.001 0.040 B 0.020 0.015 N 1 0.090 P 2.015 0.552 M 2.73 0.143 T -0.07 0.080 N 0.019 0.005 -0.976 0.359 T 0.009 0.032 T . . . -1.245 0.024 0.005 0.942 0.238 0.126 0.172 N c -1.078 -1.131 0.999 0.395 0.707 0.730 0 -0.812 0.103 -0.324 0.080 0.088 0.194 0.000 0.063 0.003 0.074 4.899 0.130 . ENSG00000160710.11|ENSG00000160716.4 Whole_Blood|Whole_Blood 0.7035 0.4082 0.8181 0.7106 0.7117 0.6574 0.7028 0.7006 0.7548 0.6279 0.4283 0.7673 0.6689 0.7093 0.6791 0.7098 0.6994 hom 8380.60 246 1 154573967 . T C 8380.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5519;MQ=59.49;MQ0=0;MQRankSum=-1.718;QD=34.07;ReadPosRankSum=0.296;VQSLOD=8.8283;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,245:246:99:8380,656,0 1 154574820 154574820 T C exonic ADAR nonsynonymous SNV ADAR:NM_001111:exon2:c.A298G:p.R100G,ADAR:NM_015840:exon2:c.A298G:p.R100G,ADAR:NM_015841:exon2:c.A298G:p.R100G 1. 0.99 1. 1. 1. 1. 0.9988 0.9870 0.9994 1 1 1.0000 0.9967 0.9999 1. 0.99 1. 1. 0.99 rs1466731 . . . . . . . . . . . . . 0.807 0.033 T 0.0 0.026 B 0.0 0.013 B 0.002 0.008 N 1 0.090 P -0.205 0.041 N 2.45 0.150 T -0.17 0.096 N 0.036 0.078 -1.015 0.255 T 0.009 0.034 T . . . -1.562 0.015 0.002 0.109 0.001 0.055 0.112 N c -1.551 -1.620 1.000 0.747 0.646 0.442 0 -2.82 0.054 -1.232 0.030 -0.439 0.057 0.000 0.063 0.000 0.016 2.295 0.039 . . . 0.9989 0.9852 0.9990 1 1 1 1.0000 0.9993 0.9999 0.9969 0.9892 0.9988 1 1 1 1 0.9980 hom 2590.92 82 1 154574820 . T C 2590.92 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.26;MQ0=0;QD=31.60;VQSLOD=8.8539;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2624,217,0 1 154575040 154575040 C T exonic ADAR synonymous SNV ADAR:NM_001111:exon2:c.G78A:p.R26R,ADAR:NM_015840:exon2:c.G78A:p.R26R,ADAR:NM_015841:exon2:c.G78A:p.R26R 1. 0.99 1. 1. 1. 1. 0.9992 0.9909 0.9996 1 1 1.0000 0.9989 0.9999 1. 0.99 1. 1. . rs1802645 . . Benign|Benign not_specified|Symmetrical_dyschromatosis_of_extremities RCV000245017.1|RCV000293981.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0406775:127400:ORPHA41:239085000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9992 0.9898 0.9992 1 1 1 1 0.9996 0.9999 0.9978 0.9924 0.9988 1 1 1 1 1 hom 3695.07 122 1 154575040 . C T 3695.07 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.12;MQ0=0;QD=30.29;VQSLOD=8.6155;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3694,295,0 1 154744807 154744807 C G exonic KCNN3 synonymous SNV KCNN3:NM_001204087:exon3:c.G1092C:p.L364L,KCNN3:NM_002249:exon3:c.G1092C:p.L364L,KCNN3:NM_170782:exon3:c.G177C:p.L59L 0.54 0.45 0.46 0.52 0.63 0.63 0.5813 0.4978 0.4785 0.5098 0.6034 0.6013 0.58 0.6533 0.58 0.52 0.61 0.54 0.53 rs1051614 COSM4142768;COSM4142769 1(thyroid) Benign not_specified RCV000455667.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5813 0.4902 0.4911 0.6684 0.5143 0.6061 0.5980 0.5793 0.6565 0.5631 0.4888 0.5203 0.6093 0.5160 0.6045 0.6008 0.6018 hom 2304.24 73 1 154744807 . C G 2304.24 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.1766;MQ=58.53;MQ0=0;QD=31.56;VQSLOD=9.2703;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2337,187,0 1 154744852 154744852 A G exonic KCNN3 synonymous SNV KCNN3:NM_001204087:exon3:c.T1047C:p.N349N,KCNN3:NM_002249:exon3:c.T1047C:p.N349N,KCNN3:NM_170782:exon3:c.T132C:p.N44N 0.78 0.59 0.84 0.98 0.74 0.81 0.7616 0.6225 0.8859 0.9863 0.6941 0.7218 0.7679 0.8302 0.71 0.64 0.74 0.75 0.73 rs1131820 COSM4142771;COSM4142770 1(thyroid) Benign not_specified RCV000454551.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7683 0.6143 0.8786 0.7550 0.9862 0.6931 0.7216 0.7457 0.8329 0.7029 0.6181 0.8341 0.7053 0.9846 0.6840 0.7174 0.7240 hom 1949.85 65 1 154744852 . A G 1949.85 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8583;MQ=59.07;MQ0=0;QD=30.00;VQSLOD=9.2894;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1983,165,0 1 154904840 154904840 T C exonic PMVK nonsynonymous SNV PMVK:NM_001348696:exon2:c.A41G:p.N14S 0.21 0.64 0.084 . 0.064 0.069 0.1086 0.5880 0.0530 0.0008 0.0605 0.0711 0.0993 0.0714 0.24 0.57 0.065 0.3 0.082 rs1891805 COSM3750396 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0940 0.5972 0.0568 0.0649 0.0008 0.0575 0.0687 0.0817 0.0683 0.2059 0.5875 0.0612 0.0596 0 0.0510 0.0616 0.0828 het 753.96 84 1 154904840 . T C 753.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.233;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.56;MQ0=0;MQRankSum=-1.217;QD=8.98;ReadPosRankSum=-0.770;VQSLOD=6.0020;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,34:84:99:784,0,1336 1 154919080 154919080 C T exonic PBXIP1 nonsynonymous SNV PBXIP1:NM_001317735:exon7:c.G605A:p.G202D,PBXIP1:NM_001317734:exon9:c.G983A:p.G328D,PBXIP1:NM_020524:exon10:c.G1070A:p.G357D 0.52 0.15 0.63 0.9 0.43 0.62 0.4977 0.1921 0.6786 0.8854 0.4382 0.4363 0.5122 0.6284 0.36 0.2 0.43 0.5 0.38 rs2061690 COSM3747565 2(liver) . . . . . . . . . . . 0.192 0.210 T 0.087 0.234 B 0.063 0.256 B 0.002 0.368 N 1 0.090 P 1.61 0.413 L 2.61 0.131 T -1.2 0.305 N 0.057 0.078 -0.965 0.382 T 0.009 0.033 T . . . 0.660 0.157 8.561 0.927 0.216 0.062 0.120 N c -0.797 -0.791 0.927 0.268 0.732 0.924 0 3.57 0.399 0.318 0.191 0.007 0.138 0.000 0.063 0.007 0.100 6.933 0.235 . ENSG00000163346.12|ENSG00000232093.1|ENSG00000163346.12|ENSG00000143603.14|ENSG00000143603.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Nerve_Tibial|Nerve_Tibial|Pituitary 0.5077 0.1884 0.6572 0.5083 0.8809 0.4354 0.4313 0.4934 0.6243 0.3847 0.1948 0.5983 0.4503 0.8660 0.4433 0.4136 0.4265 hom 2709.12 90 1 154919080 . C T 2709.12 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=30.10;VQSLOD=8.7924;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2742,226,0 1 154938235 154938235 G C exonic SHC1 synonymous SNV SHC1:NM_001130040:exon11:c.C1410G:p.R470R,SHC1:NM_183001:exon11:c.C1407G:p.R469R,SHC1:NM_001130041:exon12:c.C1077G:p.R359R,SHC1:NM_001202859:exon12:c.C942G:p.R314R,SHC1:NM_003029:exon12:c.C1080G:p.R360R 0.16 0.51 0.058 0.002 0.028 0.055 0.0756 0.4746 0.0377 0.0028 0.0225 0.0407 0.0576 0.0587 0.18 0.45 0.035 0.24 0.033 rs1131397 COSM3750397;COSM3750399;COSM3750398 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0651 0.4820 0.0388 0.0371 0.0026 0.0219 0.0396 0.0523 0.0573 0.1562 0.4729 0.0407 0.0397 0.0037 0.0195 0.0355 0.0601 het 1278.20 84 1 154938235 . G C 1278.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.110;DP=84;Dels=0.00;FS=1.941;HRun=1;HaplotypeScore=3.4468;MQ=59.20;MQ0=0;MQRankSum=1.934;QD=15.22;ReadPosRankSum=-1.796;VQSLOD=4.4744;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,48:84:99:1308,0,943 1 154938662 154938662 T C exonic SHC1 nonsynonymous SNV SHC1:NM_001130040:exon9:c.A1228G:p.M410V,SHC1:NM_183001:exon9:c.A1228G:p.M410V,SHC1:NM_001130041:exon10:c.A898G:p.M300V,SHC1:NM_001202859:exon10:c.A763G:p.M255V,SHC1:NM_003029:exon10:c.A898G:p.M300V 0.06 0.15 0.029 0.002 0.028 0.055 0.0455 0.1387 0.0235 0.0028 0.0226 0.0398 0.0410 0.0566 0.069 0.14 0.035 0.065 0.016 rs8191979 COSM3750401;COSM3750402;COSM3750400 1(large_intestine) . . . . . . . . . . . 0.62 0.073 T 0.01 0.144 B 0.001 0.040 B 0.404 0.131 N 0.559 0.313 P 0.66 0.163 N 0.84 0.475 T -0.02 0.093 N 0.089 0.112 -1.022 0.230 T 0.026 0.110 T . . . -0.199 0.076 1.102 0.624 0.068 0.814 0.405 D c -0.728 -0.560 0.989 0.317 0.722 0.854 0 1.82 0.241 0.269 0.182 0.118 0.209 1.000 0.715 0.993 0.574 6.568 0.216 PH domain-like|PTB/PI domain|Phosphotyrosine interaction domain\x2c Shc-like ENSG00000160691.14 Whole_Blood 0.0413 0.1409 0.0244 0.0369 0.0026 0.0219 0.0388 0.0427 0.0563 0.0597 0.1343 0.0274 0.0397 0.0037 0.0195 0.0349 0.0439 het 484.41 49 1 154938662 . T C 484.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.340;DP=49;Dels=0.00;FS=1.303;HRun=1;HaplotypeScore=0.8941;MQ=59.02;MQ0=0;MQRankSum=0.154;QD=9.89;ReadPosRankSum=1.159;VQSLOD=6.4497;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,19:49:99:514,0,804 1 154987526 154987526 C T exonic ZBTB7B synonymous SNV ZBTB7B:NM_001256455:exon2:c.C390T:p.I130I,ZBTB7B:NM_001252406:exon4:c.C492T:p.I164I 0.62 0.46 0.67 0.91 0.45 0.67 0.5275 0.4696 0.6975 0.8965 0.4468 0.4350 0.5278 0.6526 0.44 0.47 0.42 0.46 0.45 rs11264295 COSM424019;COSM5619081 2(breast);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5324 0.4688 0.6757 0.5415 0.8990 0.4463 0.4256 0.5099 0.6514 0.4786 0.4775 0.6325 0.4933 0.8950 0.4722 0.4280 0.4601 het 1205.38 88 1 154987526 . C T 1205.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.184;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8897;MQ=57.66;MQ0=0;MQRankSum=1.151;QD=13.70;ReadPosRankSum=0.672;VQSLOD=4.9485;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,49:88:99:1235,0,1023 1 154988957 154988957 A G exonic ZBTB7B synonymous SNV ZBTB7B:NM_001256455:exon3:c.A1416G:p.P472P,ZBTB7B:NM_001252406:exon5:c.A1518G:p.P506P 0.67 0.48 0.75 0.91 0.58 0.73 0.6192 0.5016 0.7652 0.8998 0.5485 0.5605 0.6264 0.7084 0.54 0.51 0.56 0.62 0.51 rs2242195 COSM5033578 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6272 0.5027 0.7451 0.6751 0.9031 0.5511 0.5540 0.6261 0.7106 0.5620 0.5108 0.7069 0.6467 0.8984 0.5777 0.5415 0.5645 het 888.98 73 1 154988957 . A G 888.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.061;DP=73;Dels=0.00;FS=3.261;HRun=0;HaplotypeScore=5.6220;MQ=59.37;MQ0=0;MQRankSum=-0.988;QD=12.18;ReadPosRankSum=-0.303;VQSLOD=4.0028;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:37,36:73:99:919,0,972 1 155006091 155006091 A G exonic DCST2 synonymous SNV DCST2:NM_144622:exon1:c.T87C:p.G29G 0.6 0.54 0.61 0.88 0.36 0.63 0.4681 0.5310 0.6440 0.8607 0.4094 0.3528 0.4613 0.5887 0.41 0.53 0.35 0.54 0.42 rs10908453 COSM3747566 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4730 0.5354 0.6254 0.4088 0.8629 0.4082 0.3470 0.4288 0.5892 0.4547 0.5341 0.5671 0.3907 0.8589 0.4392 0.3653 0.4235 het 991.56 83 1 155006091 . A G 991.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.487;DP=83;Dels=0.00;FS=0.860;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;MQRankSum=0.060;QD=11.95;ReadPosRankSum=-0.609;VQSLOD=6.5361;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,38:83:99:1022,0,1127 1 155006999 155006999 C T exonic DCST1 synonymous SNV DCST1:NM_001143687:exon3:c.C150T:p.L50L,DCST1:NM_152494:exon3:c.C150T:p.L50L 0.57 0.43 0.59 0.88 0.36 0.62 0.4552 0.4229 0.6353 0.8613 0.4085 0.3491 0.4536 0.5836 0.37 0.43 0.34 0.51 0.39 rs6680600 COSM5619082;COSM5619083 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4627 0.4239 0.6174 0.3970 0.8640 0.4074 0.3445 0.4208 0.5843 0.4213 0.4257 0.5671 0.3833 0.8578 0.4368 0.3612 0.4129 het 2026.81 139 1 155006999 . C T 2026.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.078;DP=139;Dels=0.00;FS=1.379;HRun=1;HaplotypeScore=2.1010;MQ=59.83;MQ0=0;MQRankSum=-0.806;QD=14.58;ReadPosRankSum=-0.319;VQSLOD=6.4115;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,76:139:99:2057,0,1771 1 155019710 155019710 A C exonic DCST1 nonsynonymous SNV DCST1:NM_001143687:exon13:c.A1459C:p.M487L,DCST1:NM_152494:exon14:c.A1534C:p.M512L 0.55 0.39 0.59 0.88 0.36 0.62 0.4524 0.3929 0.6335 0.8688 0.4094 0.3485 0.4426 0.5821 0.37 0.41 0.35 0.53 0.4 rs11264300 COSM1559945;COSM4997869 1(breast);1(pancreas) . . . . . . . . . . . 0.054 0.416 T 0.016 0.161 B 0.022 0.184 B 0.000 0.513 N 0.852 0.285 P 1.67 0.430 L 1.62 0.282 T -1.12 0.289 N 0.103 0.117 -1.017 0.246 T 0.017 0.068 T . . . 1.784 0.275 14.89 0.885 0.174 0.795 0.391 D c -0.459 -0.303 1.000 0.415 0.554 0.283 0 3.73 0.418 3.112 0.498 1.199 0.960 1.000 0.715 0.941 0.415 8.753 0.336 Dendritic cell-specific transmembrane protein-like ENSG00000232093.1|ENSG00000163354.10|ENSG00000163354.10|ENSG00000163354.10|ENSG00000163354.10|ENSG00000163354.10|ENSG00000232093.1|ENSG00000232093.1|ENSG00000232093.1|ENSG00000143603.14|ENSG00000232093.1|ENSG00000232093.1|ENSG00000232093.1|ENSG00000232093.1 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Transverse|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.4606 0.3933 0.6150 0.3990 0.8686 0.4086 0.3444 0.4167 0.5843 0.4140 0.3962 0.5588 0.3808 0.8616 0.4395 0.3625 0.4160 het 1991.53 150 1 155019710 . A C 1991.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.057;DP=150;Dels=0.00;FS=7.238;HRun=2;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.910;QD=13.28;ReadPosRankSum=-1.335;VQSLOD=4.5424;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:80,70:150:99:2022,0,2077 1 155026942 155026942 A C exonic ADAM15 nonsynonymous SNV ADAM15:NM_001261464:exon6:c.A602C:p.K201T,ADAM15:NM_001261465:exon6:c.A572C:p.K191T,ADAM15:NM_001261466:exon6:c.A524C:p.K175T,ADAM15:NM_003815:exon6:c.A572C:p.K191T,ADAM15:NM_207191:exon6:c.A572C:p.K191T,ADAM15:NM_207194:exon6:c.A572C:p.K191T,ADAM15:NM_207195:exon6:c.A572C:p.K191T,ADAM15:NM_207196:exon6:c.A572C:p.K191T,ADAM15:NM_207197:exon6:c.A572C:p.K191T 0.9 0.87 0.93 0.99 0.84 0.9 0.8881 0.8993 0.9341 0.9919 0.8854 0.8656 0.8573 0.8876 0.87 0.9 0.86 0.9 0.81 rs6427128 . . . . . . . . . . . . . 0.762 0.035 T 0.0 0.026 B 0.001 0.040 B 0.465 0.123 N 1 0.090 P 0 0.065 N 5.66 0.010 T 1.09 0.013 N 0.049 0.044 -1.055 0.130 T 0.001 0.002 T . . . -0.866 0.037 0.031 0.575 0.057 0.002 0.011 N c -1.262 -1.193 1.000 0.448 0.707 0.730 0 3.24 0.361 0.039 0.137 0.067 0.174 0.000 0.063 0.016 0.126 4.377 0.106 . ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10 Adipose_Visceral_Omentum|Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Thyroid 0.8884 0.8987 0.9350 0.7937 0.9913 0.8906 0.8666 0.8747 0.8845 0.8858 0.8985 0.9057 0.8255 0.9889 0.8751 0.8705 0.8755 hom 3349.27 116 1 155026942 . A C 3349.27 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7035;MQ=58.83;MQ0=0;QD=28.87;VQSLOD=8.5085;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3348,283,0 1 155030557 155030557 A C exonic ADAM15 synonymous SNV ADAM15:NM_001261464:exon14:c.A1677C:p.T559T,ADAM15:NM_001261465:exon14:c.A1647C:p.T549T,ADAM15:NM_001261466:exon14:c.A1599C:p.T533T,ADAM15:NM_003815:exon14:c.A1647C:p.T549T,ADAM15:NM_207191:exon14:c.A1647C:p.T549T,ADAM15:NM_207194:exon14:c.A1647C:p.T549T,ADAM15:NM_207195:exon14:c.A1647C:p.T549T,ADAM15:NM_207196:exon14:c.A1647C:p.T549T,ADAM15:NM_207197:exon14:c.A1647C:p.T549T 0.32 0.45 0.31 0.0069 0.52 0.29 0.4216 0.4756 0.2194 0.0058 0.4932 0.5240 0.4229 0.3048 0.51 0.48 0.53 0.39 0.45 rs11264303 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4132 0.4739 0.2412 0.4303 0.0034 0.4946 0.5301 0.4454 0.3064 0.4719 0.4749 0.3019 0.4603 0.0031 0.4837 0.5280 0.4724 het 1122.23 107 1 155030557 . A C 1122.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.620;DP=107;Dels=0.00;FS=7.849;HRun=1;HaplotypeScore=2.9429;MQ=59.65;MQ0=0;MQRankSum=0.157;QD=10.49;ReadPosRankSum=0.356;VQSLOD=4.7830;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,45:107:99:1152,0,1675 1 155033308 155033308 G A exonic ADAM15 synonymous SNV ADAM15:NM_001261464:exon19:c.G2307A:p.K769K,ADAM15:NM_003815:exon19:c.G2277A:p.K759K,ADAM15:NM_207194:exon19:c.G2277A:p.K759K,ADAM15:NM_207195:exon19:c.G2277A:p.K759K,ADAM15:NM_207196:exon19:c.G2277A:p.K759K,ADAM15:NM_207197:exon19:c.G2277A:p.K759K 0.075 0.0045 0.095 0.0089 0.18 0.11 0.1291 0.0247 0.0783 0.0088 0.1385 0.1709 0.1585 0.1187 0.12 0.032 0.17 0.054 0.11 rs11589479 COSM3750403 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1298 0.0211 0.0807 0.2684 0.0087 0.1335 0.1667 0.1516 0.1212 0.1122 0.0268 0.1146 0.2649 0.0117 0.1450 0.1595 0.1527 het 769.47 56 1 155033308 . G A 769.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.974;DP=56;Dels=0.00;FS=2.619;HRun=2;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=1.057;QD=13.74;ReadPosRankSum=1.139;VQSLOD=5.2681;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,28:56:99:799,0,781 1 155106227 155106227 A T exonic EFNA1 nonsynonymous SNV EFNA1:NM_182685:exon3:c.A410T:p.D137V,EFNA1:NM_004428:exon4:c.A476T:p.D159V 0.32 0.15 0.31 0.2 0.52 0.47 0.4485 0.1689 0.3161 0.1961 0.5124 0.5357 0.4714 0.4704 0.41 0.17 0.53 0.23 0.47 rs4745 COSM3750404 1(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.633 0.134 T 0.0 0.026 B 0.0 0.013 B 0.988 0.080 N 0.006 0.420 P 0 0.065 N -3.2 0.932 D 0.67 0.023 N 0.067 0.054 -0.901 0.479 T 0.262 0.634 T . . . 0.566 0.148 7.916 0.935 0.227 0.076 0.134 N c -1.116 -0.999 1.000 0.747 0.722 0.854 0 -0.259 0.123 -0.349 0.077 -0.767 0.034 0.000 0.063 0.982 0.498 3.636 0.076 Cupredoxin|Ephrin receptor-binding domain ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169242.7|ENSG00000169242.7|ENSG00000169231.9|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169241.13|ENSG00000160803.7|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169231.9|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169242.7|ENSG00000169231.9|ENSG00000177628.11|ENSG00000185499.12|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000143630.5|ENSG00000160766.10|ENSG00000160766.10|ENSG00000231064.1|ENSG00000271380.1|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169231.9|ENSG00000169231.9|ENSG00000231064.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4490 0.1614 0.3253 0.5831 0.1999 0.5101 0.5322 0.4814 0.4714 0.4086 0.1695 0.3759 0.5530 0.1986 0.5212 0.5370 0.5061 het 1797.71 215 1 155106227 . A T 1797.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.042;DP=215;Dels=0.00;FS=1.120;HRun=0;HaplotypeScore=4.4567;MQ=58.86;MQ0=0;MQRankSum=2.739;QD=8.36;ReadPosRankSum=-0.153;VQSLOD=4.6863;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:135,80:215:99:1828,0,3392 1 155149718 155149718 G A exonic TRIM46 synonymous SNV TRIM46:NM_001282378:exon4:c.G483A:p.T161T,TRIM46:NM_001256599:exon5:c.G792A:p.T264T,TRIM46:NM_001256601:exon5:c.G822A:p.T274T,TRIM46:NM_001282379:exon5:c.G861A:p.T287T,TRIM46:NM_025058:exon5:c.G861A:p.T287T,TRIM46:NM_001256600:exon6:c.G822A:p.T274T 0.45 0.22 0.57 0.76 0.36 0.43 0.4216 0.2764 0.6191 0.7685 0.4578 0.3552 0.4117 0.4473 0.33 0.27 0.36 0.43 0.36 rs3814316 COSM5827523;COSM1334562 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4329 0.2745 0.6011 0.2807 0.7660 0.4608 0.3582 0.4078 0.4456 0.3727 0.2755 0.5525 0.3188 0.7528 0.4535 0.3597 0.3868 het 2787.06 230 1 155149718 . G A 2787.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.047;DP=230;DS;Dels=0.00;FS=1.044;HRun=0;HaplotypeScore=7.2234;MQ=59.54;MQ0=0;MQRankSum=0.482;QD=12.12;ReadPosRankSum=-0.779;VQSLOD=4.7279;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,103:230:99:2817,0,3516 1 155162067 155162067 C T exonic MUC1 synonymous SNV MUC1:NM_001018016:exon2:c.G93A:p.T31T,MUC1:NM_001018017:exon2:c.G66A:p.T22T,MUC1:NM_001044390:exon2:c.G66A:p.T22T,MUC1:NM_001044391:exon2:c.G66A:p.T22T,MUC1:NM_001044392:exon2:c.G93A:p.T31T,MUC1:NM_001044393:exon2:c.G66A:p.T22T,MUC1:NM_001204285:exon2:c.G66A:p.T22T,MUC1:NM_001204286:exon2:c.G93A:p.T31T,MUC1:NM_001204287:exon2:c.G93A:p.T31T,MUC1:NM_001204288:exon2:c.G93A:p.T31T,MUC1:NM_001204289:exon2:c.G93A:p.T31T,MUC1:NM_001204291:exon2:c.G93A:p.T31T,MUC1:NM_001204292:exon2:c.G93A:p.T31T,MUC1:NM_001204293:exon2:c.G66A:p.T22T,MUC1:NM_001204294:exon2:c.G66A:p.T22T,MUC1:NM_001204295:exon2:c.G93A:p.T31T,MUC1:NM_001204296:exon2:c.G93A:p.T31T,MUC1:NM_001204297:exon2:c.G93A:p.T31T,MUC1:NM_002456:exon2:c.G66A:p.T22T 0.63 0.6 0.71 0.76 0.55 0.55 0.5790 0.6437 0.7142 0.7838 0.5578 0.5273 0.5576 0.5538 0.57 0.64 0.54 0.71 0.56 rs4072037 COSM5827531;COSM3750408;COSM3750407;COSM3750406;COSM5019082 18(soft_tissue);1(large_intestine) . . . . . Magnesium levels . -0.01 20700443 rs4072037 2E-36 . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . 1.284 0.219 12.19 0.526 0.047 0.000 0.004 N n 0.860 5.293 1.000 0.517 0.696 0.567 0 0.296 0.149 0.030 0.135 -0.508 0.051 0.002 0.151 0.001 0.043 4.494 0.112 . ENSG00000160766.10|ENSG00000231064.1|ENSG00000160766.10|ENSG00000177628.11|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169242.7|ENSG00000169231.9|ENSG00000169242.7|ENSG00000169231.9|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169231.9|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000231064.1|ENSG00000169231.9|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169231.9|ENSG00000177628.11|ENSG00000231064.1|ENSG00000185499.12|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169231.9|ENSG00000169231.9|ENSG00000160766.10|ENSG00000143630.5|ENSG00000177628.11|ENSG00000160766.10|ENSG00000169231.9|ENSG00000160766.10|ENSG00000160766.10|ENSG00000231064.1|ENSG00000169231.9|ENSG00000160767.16|ENSG00000231064.1|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169231.9|ENSG00000160766.10|ENSG00000169231.9|ENSG00000169231.9|ENSG00000185499.12|ENSG00000160766.10|ENSG00000169231.9|ENSG00000160767.16|ENSG00000177628.11|ENSG00000231064.1|ENSG00000160766.10|ENSG00000169231.9|ENSG00000236263.1|ENSG00000231064.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.5845 0.6525 0.7069 0.5166 0.7815 0.5622 0.5282 0.5626 0.5521 0.5766 0.6468 0.6659 0.5364 0.7738 0.5480 0.5206 0.5204 het 1803.01 156 1 155162067 . C T 1803.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.931;DP=156;Dels=0.00;FS=5.035;HRun=0;HaplotypeScore=3.2241;MQ=59.37;MQ0=0;MQRankSum=0.154;QD=11.56;ReadPosRankSum=-0.216;VQSLOD=5.6609;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,70:156:99:1833,0,2148 1 155178782 155178782 A T exonic MTX1 nonsynonymous SNV MTX1:NM_002455:exon1:c.A187T:p.T63S,MTX1:NM_198883:exon1:c.A187T:p.T63S 0.67 0.63 0.76 0.77 0.61 0.6 0.6688 0.6992 0.8349 0.8142 0.6724 0.6239 0.6744 0.6285 0.63 0.68 0.61 0.22 0.43 rs760077 COSM3749002 2(thyroid);14(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6506 0.6836 0.8064 0.5522 0.7958 0.6307 0.5942 0.6264 0.6100 0.6272 0.6718 0.7536 0.5695 0.7850 0.6117 0.5837 0.5988 het 96.51 20 1 155178782 . A T 96.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.501;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=-0.579;QD=4.83;ReadPosRankSum=-1.119;VQSLOD=4.3640;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,8:20:99:127,0,255 1 155206037 155206037 G A exonic GBA nonsynonymous SNV GBA:NM_001171811:exon7:c.C962T:p.T321M,GBA:NM_001171812:exon7:c.C1076T:p.T359M,GBA:NM_000157:exon8:c.C1223T:p.T408M,GBA:NM_001005741:exon9:c.C1223T:p.T408M,GBA:NM_001005742:exon9:c.C1223T:p.T408M 0.0018 . 0.0029 . 0.006 0.001 0.0066 0.0007 0.0026 0.0001 0.0102 0.0098 0.0081 0.0019 0.0052 0.0011 0.0072 . . rs75548401 . . Likely benign|Benign|Uncertain significance not_provided|not_specified|Parkinson_disease\x2c_late-onset RCV000079335.6|RCV000244995.2|RCV000416597.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN221809|CN169374|C3160718:168600:49049000 . . . . . . 0.105 0.305 T 0.072 0.302 B 0.026 0.301 B 0.006 0.322 N 0.596 0.310 N 2.05 0.567 M -5.71 0.993 D -1.22 0.309 N 0.742 0.765 0.902 0.957 D 0.879 0.960 D . . . 2.993 0.420 22.2 0.966 0.297 0.933 0.576 D c -0.130 -0.042 0.827 0.246 0.707 0.730 0 3.57 0.399 1.870 0.389 0.914 0.427 1.000 0.715 0.877 0.367 10.786 0.454 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain . . 0.0060 0.0008 0.0025 0.0022 0 0.0096 0.0091 0.0073 0.0025 0.0076 0.0006 0.0060 0.0033 0 0.0109 0.0114 0.0153 het 447.28 38 1 155206037 . G A 447.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.385;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.87;MQ0=0;MQRankSum=-0.258;QD=11.77;ReadPosRankSum=-0.866;VQSLOD=6.1293;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,18:38:99:477,0,514 1 155260382 155260382 C T exonic PKLR nonsynonymous SNV PKLR:NM_000298:exon11:c.G1706A:p.R569Q,PKLR:NM_181871:exon11:c.G1613A:p.R538Q 0.0006 . . . 0.003 . 0.0010 0 0.0005 0 0.0003 0.0017 0 0 0.0011 . 0.0016 . . rs61755431 . . . . . . . . . . . . . 0.048 0.408 D 0.982 0.581 D 0.428 0.435 B 0.000 0.559 D 1.000 0.588 D 2.11 0.588 M -5.52 0.992 D -3.43 0.673 D 0.714 0.744 0.903 0.957 D 0.897 0.966 D 0.147 0.830 D 7.103 0.942 33 0.999 0.987 0.950 0.628 D c 0.430 0.438 1.000 0.489 0.648 0.455 0 4.54 0.551 4.966 0.632 0.850 0.350 1.000 0.715 0.966 0.452 8.703 0.333 Pyruvate kinase\x2c C-terminal|Pyruvate kinase\x2c alpha/beta . . 0.0010 0.0003 0.0006 0 0 0.0001 0.0020 0.0009 0 0.0011 0.0001 0.0012 0 0 0 0.0022 0 het 1117.81 77 1 155260382 . C T 1117.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.103;DP=77;Dels=0.00;FS=8.752;HRun=0;HaplotypeScore=2.7476;MQ=59.26;MQ0=0;MQRankSum=-0.385;QD=14.52;ReadPosRankSum=0.508;VQSLOD=4.0527;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,43:77:99:1148,0,972 1 155264120 155264120 C G exonic PKLR nonsynonymous SNV PKLR:NM_000298:exon7:c.G1022C:p.G341A,PKLR:NM_181871:exon7:c.G929C:p.G310A . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.025 0.477 D 1.0 0.899 D 0.998 0.875 D 0.000 0.843 D 1 0.810 D 2.51 0.734 M -7.15 0.998 D -5.6 0.869 D 0.97 0.970 0.962 0.966 D 0.993 0.998 D 0.367 0.927 D 5.911 0.811 27.5 0.999 0.930 0.993 0.938 D c 0.917 0.851 1.000 0.747 0.635 0.417 0 4.94 0.645 7.905 0.864 0.848 0.348 1.000 0.715 0.959 0.439 16.046 0.804 Pyruvate kinase\x2c barrel|Pyruvate/Phosphoenolpyruvate kinase-like domain . . . . . . . . . . . . . . . . . . . het 760.63 55 1 155264120 . C G 760.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.718;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9966;MQ=58.47;MQ0=0;MQRankSum=0.840;QD=13.83;ReadPosRankSum=-1.723;VQSLOD=3.8562;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,28:55:99:791,0,832 1 155294274 155294274 A G exonic RUSC1 synonymous SNV RUSC1:NM_001105205:exon1:c.A66G:p.L22L 0.95 0.81 0.98 1. 1. 1. 0.9886 0.8562 0.9952 1 1 0.9998 0.9939 0.9996 0.96 0.86 1. 0.96 0.84 rs914616 COSM4142793 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9903 0.8573 0.9941 1 0.9999 1 0.9998 0.9950 0.9996 0.9588 0.8551 0.9940 1 1 1 1 0.9938 hom 1589.10 45 1 155294274 . A G 1589.10 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;QD=35.31;VQSLOD=8.6742;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1622,132,0 1 155408635 155408635 T C exonic ASH1L nonsynonymous SNV ASH1L:NM_018489:exon5:c.A5311G:p.T1771A 0.95 0.81 0.98 1. 1. 1. 0.9869 0.8550 0.9951 1 1 0.9998 0.9923 0.9996 0.95 0.86 1. 0.96 0.98 rs4971053 . . . . . . . . . . . . . 0.162 0.235 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.090 P 0 0.065 N -2.27 0.874 D -0.26 0.112 N 0.017 0.003 -0.875 0.501 T 0.217 0.579 T . . . 0.247 0.118 5.166 0.963 0.287 0.623 0.315 D c -0.612 -0.425 0.001 0.084 0.707 0.730 0 4.31 0.505 2.325 0.433 -0.269 0.086 0.993 0.376 0.922 0.397 5.856 0.179 . ENSG00000177628.11|ENSG00000132676.11|ENSG00000177628.11|ENSG00000132718.7 Nerve_Tibial|Thyroid|Thyroid|Thyroid 0.9901 0.8582 0.9941 1 0.9999 1 0.9997 0.9947 0.9995 0.9588 0.8551 0.9940 1 1 1 1 0.9939 hom 4079.81 134 1 155408635 . T C 4079.81 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.04;MQ0=0;QD=30.22;VQSLOD=8.9660;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4079,349,0 1 155837865 155837865 G C exonic SYT11 nonsynonymous SNV SYT11:NM_152280:exon2:c.G144C:p.Q48H 0.95 0.84 0.98 1. 1. 1. 0.9880 0.8670 0.9954 1 1 0.9999 0.9923 0.9995 0.95 0.87 1. 0.97 0.97 rs822522 . . . . . . . . . . . . . 0.866 0.026 T 0.0 0.026 B 0.0 0.013 B 0.000 0.491 N 1.000 0.588 P -1.1 0.010 N 0.91 0.449 T 0.49 0.030 N 0.072 0.061 -0.978 0.355 T 0.015 0.059 T . . . 0.291 0.122 5.605 0.503 0.043 0.209 0.210 N c -1.029 -0.778 1.000 0.500 0.706 0.609 0 3.65 0.408 1.750 0.377 -0.907 0.026 1.000 0.715 0.992 0.562 7.439 0.262 . ENSG00000132676.11|ENSG00000177628.11|ENSG00000196189.8 Thyroid|Thyroid|Thyroid 0.9909 0.8689 0.9947 1 0.9999 1 0.9998 0.9947 0.9996 0.9626 0.8686 0.9928 1 1 1 0.9999 0.9949 hom 4144.58 123 1 155837865 . G C 4144.58 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9126;MQ=59.32;MQ0=0;QD=33.70;VQSLOD=7.7382;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4144,325,0 1 155838267 155838267 T C exonic SYT11 synonymous SNV SYT11:NM_152280:exon2:c.T546C:p.H182H 0.93 0.75 0.99 1. 1. 1. 0.9799 0.7794 0.9909 0.9998 1 0.9997 0.9890 0.9995 0.93 0.78 1. 0.97 0.98 rs822521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9845 0.7797 0.9904 1 0.9995 1 0.9996 0.9923 0.9995 0.9371 0.7799 0.9833 1 1 1 0.9997 0.9888 hom 3522.66 113 1 155838267 . T C 3522.66 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8226;MQ=58.74;MQ0=0;QD=31.17;VQSLOD=9.3887;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3522,286,0 1 155912486 155912486 T C exonic RXFP4 nonsynonymous SNV RXFP4:NM_181885:exon1:c.T986C:p.L329S 0.92 0.74 0.98 1. 1. 0.98 0.9797 0.8118 0.9918 0.9997 1 0.9995 0.9844 0.9775 0.94 0.82 1. 0.91 0.97 rs2152051 . . . . . . . . . . . . . 0.532 0.070 T 0.0 0.026 B 0.0 0.013 B 0.513 0.118 N 1 0.090 P -0.695 0.019 N 1.25 0.365 T 1.47 0.008 N 0.089 0.086 -0.943 0.421 T 0.009 0.034 T . . . -0.659 0.047 0.090 0.770 0.113 0.006 0.027 N c -1.282 -1.194 1.000 0.747 0.680 0.551 0 1.86 0.244 -0.129 0.104 0.069 0.176 0.000 0.063 0.017 0.128 4.614 0.117 . ENSG00000177628.11 Thyroid 0.9835 0.8105 0.9908 0.9999 0.9997 1 0.9993 0.9908 0.9773 0.9479 0.8186 0.9881 1 1 1 0.9993 0.9888 hom 2492.23 81 1 155912486 . T C 2492.23 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7356;MQ=59.37;MQ0=0;QD=30.77;VQSLOD=9.0839;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2525,229,0 1 156011444 156011444 T C exonic UBQLN4 nonsynonymous SNV UBQLN4:NM_001304342:exon10:c.A1425G:p.I475M,UBQLN4:NM_020131:exon10:c.A1485G:p.I495M 0.43 0.38 0.55 0.14 0.6 0.55 0.5802 0.4690 0.4873 0.1877 0.6235 0.6468 0.5604 0.5720 0.55 0.44 0.61 0.42 0.49 rs2297792 COSM5420315 1(pancreas) . . . . . . . . . . . 0.421 0.098 T 0.019 0.167 B 0.004 0.093 B 0.070 0.215 N 1.000 0.182 P 0 0.065 N 0.53 0.551 T 0.13 0.055 N 0.008 0.014 -1.026 0.218 T 0.021 0.091 T . . . 2.042 0.306 16.48 0.743 0.103 0.228 0.216 N c -0.336 -0.260 0.006 0.111 0.672 0.522 0 2.56 0.297 0.716 0.253 -0.314 0.078 0.990 0.367 0.939 0.413 4.360 0.106 . ENSG00000143622.6|ENSG00000143622.6|ENSG00000143622.6|ENSG00000143622.6|ENSG00000143622.6|ENSG00000116584.13|ENSG00000177628.11|ENSG00000143622.6|ENSG00000143622.6|ENSG00000143627.13|ENSG00000143630.5|ENSG00000143622.6|ENSG00000143622.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5309 0.4332 0.4483 0.5790 0.1277 0.5927 0.6174 0.5641 0.5241 0.5465 0.4491 0.4857 0.5960 0.1354 0.6092 0.6317 0.6084 hom 468.03 13 1 156011444 . T C 468.03 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.57;MQ0=0;QD=36.00;VQSLOD=9.1336;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:501,39,0 1 156025096 156025096 C T exonic LAMTOR2 synonymous SNV LAMTOR2:NM_001145264:exon2:c.C111T:p.Y37Y,LAMTOR2:NM_014017:exon2:c.C111T:p.Y37Y 0.072 0.033 0.13 0.001 0.16 0.067 0.1203 0.0515 0.0837 0.0003 0.1494 0.1597 0.1427 0.0802 0.13 0.057 0.16 0.11 0.11 rs7541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1222 0.0511 0.0907 0.1552 0.0004 0.1502 0.1614 0.1538 0.0815 0.1126 0.0476 0.1265 0.1433 0.0012 0.1424 0.1522 0.1427 het 2778.70 244 1 156025096 . C T 2778.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.188;DP=244;DS;Dels=0.00;FS=12.203;HRun=0;HaplotypeScore=7.1915;MQ=59.12;MQ0=0;MQRankSum=2.002;QD=11.39;ReadPosRankSum=-1.061;VQSLOD=2.8937;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:140,104:244:99:2809,0,3543 1 156146218 156146218 C T exonic SEMA4A synonymous SNV SEMA4A:NM_001193302:exon13:c.C1320T:p.P440P,SEMA4A:NM_001193300:exon15:c.C1716T:p.P572P,SEMA4A:NM_001193301:exon15:c.C1716T:p.P572P,SEMA4A:NM_022367:exon15:c.C1716T:p.P572P 0.43 0.39 0.52 0.23 0.6 0.44 0.5272 0.4013 0.5330 0.2381 0.5628 0.5929 0.5166 0.4750 0.53 0.42 0.59 0.35 0.63 rs12401573 COSM5442379 1(breast);1(oesophagus) Benign|Benign|Benign not_specified|Retinitis_Pigmentosa\x2c_Recessive|Cone-Rod_Dystrophy\x2c_Recessive RCV000248681.1|RCV000271657.1|RCV000326719.1 MedGen|MedGen|MedGen CN169374|CN239466|CN239309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5286 0.4006 0.5332 0.5461 0.2406 0.5632 0.5947 0.5561 0.4736 0.5137 0.4046 0.5469 0.5960 0.2407 0.5447 0.5923 0.5685 het 842.41 67 1 156146218 . C T 842.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.837;DP=67;Dels=0.00;FS=1.167;HRun=0;HaplotypeScore=0.6651;MQ=57.82;MQ0=0;MQRankSum=0.861;QD=12.57;ReadPosRankSum=2.377;VQSLOD=4.0968;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,31:67:99:872,0,858 1 156202173 156202173 A G exonic PMF1;PMF1-BGLAP nonsynonymous SNV PMF1:NM_001199653:exon2:c.A224G:p.Q75R,PMF1-BGLAP:NM_001199661:exon2:c.A224G:p.Q75R,PMF1-BGLAP:NM_001199662:exon2:c.A224G:p.Q75R,PMF1-BGLAP:NM_001199663:exon2:c.A224G:p.Q75R,PMF1:NM_007221:exon2:c.A224G:p.Q75R 0.45 0.71 0.37 0.33 0.37 0.35 0.3852 0.6759 0.3348 0.3437 0.3580 0.3702 0.3907 0.3301 0.47 0.67 0.36 0.45 0.35 rs1052053 COSM4142815 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.030 0.253 N 1 0.090 P -1.345 0.007 N 1.61 0.284 T 0.25 0.049 N 0.055 0.107 -0.942 0.423 T 0.006 0.020 T . . . -0.318 0.067 0.605 0.646 0.073 0.020 0.060 N c -1.066 -0.852 0.999 0.380 0.707 0.730 0 4.69 0.584 2.827 0.476 0.138 0.222 0.814 0.297 0.812 0.340 8.218 0.305 . ENSG00000198952.7|ENSG00000160785.9|ENSG00000196189.8|ENSG00000160785.9|ENSG00000160785.9|ENSG00000196189.8|ENSG00000160785.9|ENSG00000196189.8|ENSG00000163472.14|ENSG00000198715.7 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3758 0.6846 0.3425 0.3123 0.3333 0.3520 0.3733 0.3738 0.3296 0.4614 0.6757 0.3529 0.3893 0.3154 0.3561 0.3896 0.3845 het 3065.28 226 1 156202173 . A G 3065.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.212;DP=226;DS;Dels=0.00;FS=5.190;HRun=0;HaplotypeScore=8.9873;MQ=59.00;MQ0=0;MQRankSum=3.086;QD=13.56;ReadPosRankSum=0.331;VQSLOD=3.2482;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:113,113:226:99:3095,0,3218 1 156206121 156206121 G A exonic PMF1;PMF1-BGLAP nonsynonymous SNV PMF1-BGLAP:NM_001199664:exon2:c.G204A:p.M68I,PMF1:NM_001199654:exon4:c.G417A:p.M139I,PMF1-BGLAP:NM_001199662:exon4:c.G411A:p.M137I,PMF1:NM_007221:exon4:c.G411A:p.M137I 0.19 0.11 0.22 0.21 0.28 0.19 0.2344 0.1488 0.1516 0.1882 0.2870 0.2771 0.2489 0.1768 0.24 0.16 0.27 0.14 0.3 rs1052067 . . . . . . . . . . . . . 0.065 0.363 T 0.139 0.259 B 0.127 0.311 B . . . 0.997 0.588 P 1.405 0.356 L 1.7 0.269 T -0.45 0.183 N 0.079 0.080 -1.085 0.064 T 0.027 0.116 T . . . 1.344 0.225 12.50 0.984 0.411 0.805 0.398 D c -0.377 -0.269 0.946 0.276 0.707 0.730 0 3.93 0.445 2.313 0.432 0.108 0.203 1.000 0.715 0.663 0.301 10.624 0.445 . ENSG00000198952.7|ENSG00000160785.9|ENSG00000196189.8|ENSG00000160785.9|ENSG00000160785.9|ENSG00000196189.8|ENSG00000196189.8|ENSG00000196189.8|ENSG00000196189.8|ENSG00000163468.10|ENSG00000160785.9|ENSG00000198952.7|ENSG00000198715.7|ENSG00000196189.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.2330 0.1461 0.1674 0.2291 0.1848 0.2808 0.2783 0.2431 0.1757 0.2373 0.1537 0.1933 0.3013 0.1601 0.2797 0.2847 0.2520 hom 4717.63 147 1 156206121 . G A 4717.63 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=59.11;MQ0=0;QD=31.88;VQSLOD=9.8060;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4717,373,0 1 156213921 156213921 C T exonic PAQR6 nonsynonymous SNV PAQR6:NM_001272109:exon5:c.G367A:p.E123K,PAQR6:NM_001272112:exon5:c.G367A:p.E123K,PAQR6:NM_001272113:exon5:c.G367A:p.E123K,PAQR6:NM_001272106:exon6:c.G583A:p.E195K,PAQR6:NM_001272110:exon7:c.G367A:p.E123K,PAQR6:NM_001272111:exon7:c.G367A:p.E123K,PAQR6:NM_024897:exon7:c.G787A:p.E263K 0.22 0.16 0.3 0.26 0.15 0.28 0.1914 0.1561 0.3236 0.2490 0.0782 0.1620 0.1753 0.2595 0.16 0.16 0.16 0.15 0.14 rs7513351 COSM3750416;COSM3750415 1(bone);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.154 0.265 B 0.048 0.236 B . . . 1 0.205 P . . . 1.15 0.382 T 0.0 0.070 N 0.074 0.064 -0.977 0.357 T 0.021 0.089 T . . . 2.547 0.367 19.77 0.972 0.323 0.287 0.234 N c -0.705 -0.751 1.000 0.747 0.635 0.413 0 -3.56 0.043 0.812 0.267 0.077 0.185 0.994 0.380 0.128 0.199 2.575 0.045 . ENSG00000242252.1|ENSG00000198715.7|ENSG00000160781.11|ENSG00000160781.11|ENSG00000242252.1|ENSG00000160781.11|ENSG00000163472.14|ENSG00000198952.7|ENSG00000198715.7 Brain_Cerebellum|Liver|Lung|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.1959 0.1595 0.3166 0.2219 0.2444 0.0797 0.1626 0.1826 0.2531 0.1558 0.1557 0.3230 0.2152 0.2392 0.0793 0.1542 0.1538 het 1158.29 97 1 156213921 . C T 1158.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.077;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=59.76;MQ0=0;MQRankSum=-0.702;QD=11.94;ReadPosRankSum=0.107;VQSLOD=6.6494;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,45:97:99:1188,0,1512 1 156347131 156347131 G A exonic RHBG nonsynonymous SNV RHBG:NM_020407:exon2:c.G227A:p.G76D,RHBG:NM_001256395:exon3:c.G20A:p.G7D,RHBG:NM_001256396:exon3:c.G137A:p.G46D 0.27 0.19 0.28 0.1 0.46 0.35 0.3740 0.2161 0.2259 0.0992 0.4796 0.4523 0.3974 0.3602 0.37 0.23 0.45 0.2 0.45 rs2245623 COSM4142826;COSM4142824;COSM4142825;COSM4142823 2(thyroid) . . . . . . . . . . . . . . 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.810 P 3.605 0.939 H . . . . . . 0.371 0.799 0.705 0.932 D 0.739 0.911 D . . . 6.377 0.880 29.5 0.996 0.756 0.978 0.769 D c 0.994 0.904 1.0 0.983 0.549 0.223 0 4.86 0.625 9.740 0.980 1.048 0.713 1.000 0.715 1.000 0.888 16.719 0.852 Ammonium transporter AmtB-like domain|Ammonium/urea transporter ENSG00000132677.8 Testis 0.3713 0.2134 0.2388 0.4222 0.0971 0.4759 0.4538 0.3798 0.3548 0.3555 0.2231 0.2722 0.37 0.0953 0.4730 0.4352 0.3945 het 3141.20 250 1 156347131 . G A 3141.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.580;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5514;MQ=59.24;MQ0=0;MQRankSum=-0.656;QD=12.56;ReadPosRankSum=-1.288;VQSLOD=5.8928;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:130,120:250:99:3171,0,3539 1 156351699 156351699 G A exonic RHBG nonsynonymous SNV RHBG:NM_020407:exon6:c.G943A:p.G315R,RHBG:NM_001256395:exon7:c.G736A:p.G246R,RHBG:NM_001256396:exon7:c.G853A:p.G285R 0.54 0.57 0.6 0.7 0.41 0.44 0.4800 0.5484 0.6252 0.7071 0.4269 0.4315 0.4456 0.4381 0.46 0.53 0.43 0.64 0.36 rs3748569 COSM4142835;COSM4142832;COSM4142834;COSM4142833 1(pancreas);1(thyroid) . . . . . . . . . . . . . . 0.999 0.899 D 0.986 0.971 D 0.000 0.843 D 0.000 0.810 P 3.52 0.931 H . . . . . . 0.313 0.817 -0.251 0.763 T 0.288 0.660 T . . . 6.855 0.929 33 0.999 0.994 0.960 0.670 D c 0.880 0.777 1.000 0.747 0.554 0.283 0 4.44 0.530 7.757 0.839 1.048 0.713 1.000 0.715 1.000 0.888 14.590 0.678 Ammonium transporter AmtB-like domain|Ammonium/urea transporter . . 0.4810 0.5493 0.6114 0.4261 0.7066 0.4270 0.4276 0.4812 0.4365 0.4928 0.5398 0.5658 0.4901 0.7064 0.4387 0.4516 0.4867 het 1055.79 80 1 156351699 . G A 1055.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.652;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8267;MQ=59.71;MQ0=0;MQRankSum=1.289;QD=13.20;ReadPosRankSum=1.201;VQSLOD=6.0660;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,40:80:99:1086,0,1052 1 156354367 156354367 A G exonic RHBG nonsynonymous SNV RHBG:NM_020407:exon10:c.A1283G:p.H428R,RHBG:NM_001256395:exon11:c.A1076G:p.H359R,RHBG:NM_001256396:exon11:c.A1193G:p.H398R 0.73 0.9 0.67 0.9 0.51 0.61 0.6122 0.8555 0.6875 0.9116 0.5319 0.5301 0.5907 0.6203 0.63 0.85 0.53 0.84 0.48 rs6668857 COSM3750424;COSM3750425;COSM3750423 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.998 0.810 P . . . . . . . . . 0.037 0.219 -1.076 0.082 T 0.048 0.206 T . . . 0.646 0.156 8.468 0.987 0.442 0.048 0.104 N c 0.187 0.276 1.000 0.747 0.581 0.326 0 5.94 0.962 4.034 0.568 0.138 0.222 1.000 0.715 0.956 0.434 11.353 0.487 Ammonium/urea transporter ENSG00000132677.8|ENSG00000132677.8 Skin_Sun_Exposed_Lower_leg|Testis 0.6137 0.8585 0.6823 0.5985 0.9147 0.5385 0.5257 0.6085 0.6129 0.6594 0.8610 0.6687 0.6391 0.9115 0.5419 0.5459 0.5980 het 2450.34 212 1 156354367 . A G 2450.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.524;DP=212;Dels=0.00;FS=1.094;HRun=0;HaplotypeScore=4.1670;MQ=59.22;MQ0=0;MQRankSum=-0.626;QD=11.56;ReadPosRankSum=-0.997;VQSLOD=5.7796;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,97:212:99:2480,0,2642 1 156450719 156450719 G A exonic MEF2D synonymous SNV MEF2D:NM_001271629:exon4:c.C303T:p.P101P,MEF2D:NM_005920:exon4:c.C303T:p.P101P 0.23 0.18 0.3 0.24 0.24 0.24 0.2537 0.2102 0.3738 0.2811 0.3438 0.2246 0.2562 0.2626 0.22 0.21 0.23 0.29 0.21 rs1185700 COSM3750426 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2592 0.2096 0.3652 0.1391 0.2726 0.3450 0.2273 0.2358 0.2556 0.2510 0.2137 0.3222 0.1333 0.2825 0.3460 0.2447 0.2643 het 4708.27 250 1 156450719 . G A 4708.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.705;DP=250;DS;Dels=0.00;FS=2.298;HRun=0;HaplotypeScore=3.4557;MQ=58.53;MQ0=1;MQRankSum=-0.076;QD=18.83;ReadPosRankSum=-0.955;VQSLOD=4.6892;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,153:250:99:4099,0,2243 1 156526387 156526387 C G exonic IQGAP3 nonsynonymous SNV IQGAP3:NM_178229:exon12:c.G1228C:p.V410L 0.38 0.14 0.55 0.43 0.63 0.27 0.5376 0.2137 0.5557 0.4542 0.6786 0.6303 0.5564 0.3400 0.5 0.24 0.64 0.38 0.65 rs11264498 COSM5445704 1(oesophagus) . . . . . . . . . . . 0.004 0.654 D 0.994 0.647 D 0.97 0.706 D 0.000 0.843 D 0.000 0.588 P 1.81 0.478 L 2.62 0.130 T -2.44 0.534 N 0.326 0.387 -1.148 0.011 T 0.066 0.273 T . . . 5.773 0.789 27.0 0.998 0.888 0.985 0.838 D c 0.635 0.605 1.000 0.747 0.707 0.730 0 5.54 0.828 5.954 0.698 0.892 0.403 1.000 0.715 0.866 0.362 18.056 0.892 . ENSG00000163382.7|ENSG00000163382.7|ENSG00000163382.7|ENSG00000187862.7|ENSG00000187862.7|ENSG00000187862.7 Adipose_Subcutaneous|Artery_Tibial|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood 0.5460 0.2015 0.5505 0.5245 0.4614 0.6760 0.6369 0.5709 0.3391 0.5046 0.2157 0.5467 0.5265 0.4671 0.6772 0.6299 0.5644 hom 2972.36 86 1 156526387 . C G 2972.36 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=34.56;VQSLOD=9.7412;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:3005,241,0 1 156526444 156526444 T C exonic IQGAP3 nonsynonymous SNV IQGAP3:NM_178229:exon12:c.A1171G:p.R391G 0.96 0.85 0.99 1. 1. 1. 0.9878 0.8655 0.9955 1 1 0.9997 0.9933 0.9997 0.96 0.88 1. 0.89 1. rs2488269 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.441 N 0.945 0.267 P -2.155 0.001 N 3.66 0.043 T 4.51 0.000 N 0.257 0.313 -0.935 0.433 T 0.001 0.004 T . . . 0.667 0.158 8.611 0.414 0.030 0.160 0.190 N c -0.860 -0.551 1.000 0.747 0.732 0.924 0 5.54 0.828 3.231 0.507 0.040 0.155 0.990 0.367 0.666 0.302 13.383 0.601 . . . 0.9904 0.8607 0.9950 1 1 1 0.9998 0.9956 0.9996 0.9602 0.8611 0.9905 1 1 1 0.9997 0.9929 hom 2810.02 92 1 156526444 . T C 2810.02 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9789;MQ=57.41;MQ0=0;QD=30.54;VQSLOD=7.2546;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2843,217,0 1 156532977 156532977 T C exonic IQGAP3 synonymous SNV IQGAP3:NM_178229:exon8:c.A747G:p.Q249Q 0.96 0.85 0.99 1. 1. 1. 0.9878 0.8646 0.9955 1 1 0.9998 0.9934 0.9997 0.96 0.88 1. 0.98 1. rs1171547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9904 0.8607 0.9949 1 1 1 0.9998 0.9953 0.9997 0.9601 0.8604 0.9916 1 1 1 0.9997 0.9929 hom 5497.69 169 1 156532977 . T C 5497.69 Mask AC=2;AF=1.00;AN=2;DP=169;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1022;MQ=59.03;MQ0=0;QD=32.53;VQSLOD=7.3395;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5497,427,0 1 156536221 156536221 G C exonic IQGAP3 synonymous SNV IQGAP3:NM_178229:exon3:c.C243G:p.P81P 0.96 0.85 0.99 1. 1. 1. 0.9878 0.8647 0.9955 1 1 0.9998 0.9934 0.9997 0.96 0.88 1. 0.98 1. rs2066377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9904 0.8606 0.9949 1 1 1 0.9998 0.9952 0.9997 0.9600 0.8605 0.9905 1 0.9994 1 0.9997 0.9929 hom 2070.06 70 1 156536221 . G C 2070.06 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=29.57;VQSLOD=8.5519;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2103,174,0 1 156536251 156536251 T C exonic IQGAP3 synonymous SNV IQGAP3:NM_178229:exon3:c.A213G:p.L71L 0.96 0.85 0.99 1. 1. 1. 0.9878 0.8647 0.9955 1 1 0.9998 0.9934 0.9997 0.96 0.88 1. 0.98 1. rs947662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9904 0.8606 0.9949 1 1 1 0.9998 0.9953 0.9997 0.9601 0.8606 0.9905 1 1 1 0.9997 0.9929 hom 2256.83 67 1 156536251 . T C 2256.83 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7340;MQ=58.75;MQ0=0;QD=33.68;VQSLOD=8.8152;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2290,181,0 1 156556321 156556321 G A exonic TTC24 synonymous SNV TTC24:NM_001105669:exon10:c.G1728A:p.S576S 0.77 0.29 0.91 0.97 0.96 0.92 0.9156 0.3926 0.9561 0.9737 0.9793 0.9681 0.9308 0.9186 0.8 0.45 0.97 0.72 . rs10796961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9225 0.3674 0.9504 0.9698 0.9751 0.9760 0.9673 0.9404 0.9167 0.8045 0.3906 0.9415 0.9636 0.9728 0.9788 0.9650 0.9366 hom 1211.30 41 1 156556321 . G A 1211.30 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=59.44;MQ0=0;QD=29.54;VQSLOD=8.3714;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:93.30:1244,93,0 1 156561651 156561651 G C exonic NAXE nonsynonymous SNV NAXE:NM_144772:exon1:c.G55C:p.V19L 0.93 0.86 0.96 0.97 0.96 0.92 0.9575 0.8612 0.9796 0.9742 0.9795 0.9712 0.9520 0.9217 0.95 0.89 0.98 0.67 0.75 rs7516274 COSM3750429;COSM3750428 2(thyroid);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.084 0.207 N 1 0.090 P -1.59 0.004 N 0.93 0.441 T 0.0 0.080 N 0.007 0.003 -0.944 0.420 T 0.009 0.031 T . . . 0.392 0.132 6.545 0.581 0.058 0.065 0.123 N c -1.299 -1.169 1.000 0.747 0.442 0.072 0 1.94 0.249 0.183 0.166 0.067 0.174 0.001 0.137 0.239 0.226 5.944 0.183 . ENSG00000160818.12 Muscle_Skeletal 0.9590 0.8536 0.9761 0.9763 0.9758 0.9770 0.9705 0.9612 0.9197 0.9375 0.8559 0.9694 0.9765 0.9753 0.9787 0.9677 0.9548 hom 1268.37 45 1 156561651 . G C 1268.37 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.65;MQ0=0;QD=28.19;VQSLOD=7.4861;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1301,99,0 1 156563726 156563726 A C exonic NAXE synonymous SNV NAXE:NM_144772:exon6:c.A717C:p.I239I 0.93 0.86 0.96 0.97 0.96 0.92 0.9551 0.8547 0.9789 0.9745 0.9787 0.9704 0.9515 0.9207 0.93 0.86 0.97 0.95 0.94 rs6427322 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 D 0.971 0.810 P . . . 0.73 0.507 T -0.13 0.090 N . . -1.006 0.283 T 0.022 0.092 T . . . -0.117 0.083 1.607 0.777 0.116 0.462 0.275 N c -0.720 -0.579 1.000 0.747 0.722 0.854 0 2.99 0.335 2.256 0.426 -0.425 0.059 1.000 0.715 0.986 0.517 4.425 0.108 YjeF N-terminal domain ENSG00000160818.12 Muscle_Skeletal 0.9580 0.8507 0.9761 0.9763 0.9759 0.9762 0.9699 0.9597 0.9193 0.9376 0.8559 0.9701 0.9768 0.9753 0.9791 0.9675 0.9560 hom 6974.10 213 1 156563726 . A C 6974.10 Mask AC=2;AF=1.00;AN=2;DP=213;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3483;MQ=59.04;MQ0=0;QD=32.74;VQSLOD=7.0983;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,213:213:99:6973,554,0 1 156563813 156563813 G A exonic NAXE synonymous SNV NAXE:NM_144772:exon6:c.G804A:p.E268E 0.93 0.86 0.96 0.97 0.96 0.92 0.9552 0.8545 0.9789 0.9745 0.9787 0.9704 0.9515 0.9208 0.93 0.86 0.97 0.95 0.98 rs6668178 . . . . . . . . . . . . . 0.7 0.042 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 D 1.000 0.588 P . . . 0.59 0.540 T -0.59 0.176 N . . -1.094 0.049 T 0.044 0.191 T . . . 1.371 0.228 12.64 0.916 0.203 0.834 0.423 D c -0.406 -0.282 1.000 0.747 0.672 0.522 0 1.31 0.207 3.260 0.510 -0.109 0.115 1.000 0.715 0.998 0.697 4.496 0.112 YjeF N-terminal domain ENSG00000160818.12 Muscle_Skeletal 0.9580 0.8504 0.9761 0.9763 0.9759 0.9762 0.9699 0.9599 0.9193 0.9373 0.8550 0.9701 0.9768 0.9753 0.9791 0.9675 0.9542 hom 6267.51 193 1 156563813 . G A 6267.51 Mask AC=2;AF=1.00;AN=2;DP=193;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.6712;MQ=58.73;MQ0=0;QD=32.31;VQSLOD=6.0836;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,193:193:99:6267,491,0 1 156563852 156563852 C T exonic NAXE synonymous SNV NAXE:NM_144772:exon6:c.C843T:p.T281T 0.93 0.86 0.96 0.97 0.96 0.92 0.9551 0.8543 0.9789 0.9745 0.9787 0.9704 0.9515 0.9208 0.93 0.86 0.97 0.94 0.96 rs942963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9580 0.8500 0.9761 0.9764 0.9759 0.9763 0.9699 0.9602 0.9193 0.9373 0.8547 0.9702 0.9768 0.9753 0.9791 0.9677 0.9542 hom 4922.63 153 1 156563852 . C T 4922.63 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3255;MQ=58.90;MQ0=0;QD=32.17;VQSLOD=8.7931;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:4922,388,0 1 156565049 156565049 - AC exonic GPATCH4 frameshift insertion GPATCH4:NM_015590:exon8:c.1083_1084insGT:p.F362Vfs*90,GPATCH4:NM_182679:exon8:c.1068_1069insGT:p.F357Vfs*90 0.99 0.98 1. 1. 1. 1. 0.9983 0.9818 0.9989 1 1 1.0000 0.9945 0.9999 0.99 0.98 1. . . rs72559129 COSM5022132;COSM5022133 1(bone);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9986 0.9811 0.9984 1 1 1 1.0000 0.9987 0.9999 0.9943 0.9802 0.9964 1 1 1 0.9999 1 hom 13118.06 243 1 156565049 . A AAC 13118.06 Mask AC=2;AF=1.00;AN=2;DP=243;DS;FS=0.000;HRun=0;HaplotypeScore=593.3311;MQ=60.62;MQ0=0;QD=53.98;set=variant2 GT:AD:DP:GQ:PL 1/1:8,230:243:99:13118,704,0 1 156622252 156622252 G A exonic BCAN nonsynonymous SNV BCAN:NM_021948:exon8:c.G1510A:p.E504K,BCAN:NM_198427:exon8:c.G1510A:p.E504K 0.37 0.26 0.37 0.35 0.39 0.53 0.3953 0.2986 0.3360 0.3521 0.2757 0.3968 0.4059 0.5240 0.34 0.27 0.38 0.33 0.31 rs1056695 COSM3750430;COSM3750431 1(large_intestine) . . . . . . . . . . . 0.153 0.457 T 0.172 0.288 B 0.039 0.277 B 0.010 0.013 N 0.991 0.285 P 1.7 0.440 L 2.48 0.147 T -0.86 0.234 N 0.18 0.219 -0.975 0.362 T 0.009 0.033 T . . . 0.763 0.167 9.231 0.975 0.336 0.759 0.369 D c -0.536 -0.467 1.000 0.451 0.617 0.392 1 2.81 0.318 1.431 0.343 0.017 0.142 0.997 0.399 0.012 0.117 5.998 0.186 . ENSG00000272405.1 Esophagus_Mucosa 0.3607 0.2637 0.3018 0.3674 0.3286 0.2420 0.3767 0.3653 0.5116 0.3213 0.2645 0.3282 0.3576 0.3075 0.2446 0.3714 0.3409 het 197.16 23 1 156622252 . G A 197.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.098;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3302;MQ=58.99;MQ0=0;MQRankSum=1.259;QD=8.57;ReadPosRankSum=-0.807;VQSLOD=5.8848;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,8:23:99:227,0,436 1 156639636 156639636 G A exonic NES synonymous SNV NES:NM_006617:exon4:c.C4344T:p.A1448A 0.22 0.02 0.29 0.29 0.3 0.3 0.2603 0.0600 0.2568 0.2690 0.2348 0.2906 0.2584 0.2653 0.21 0.068 0.28 0.2 0.17 rs11549292 COSM1127348 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2597 0.0546 0.2533 0.2295 0.2797 0.2369 0.2926 0.2786 0.2605 0.2165 0.0617 0.2458 0.2185 0.2534 0.2430 0.2920 0.2593 het 816.98 56 1 156639636 . G A 816.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.780;DP=56;Dels=0.00;FS=6.210;HRun=0;HaplotypeScore=1.8273;MQ=58.92;MQ0=0;MQRankSum=0.550;QD=14.59;ReadPosRankSum=-1.060;VQSLOD=4.4350;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,30:56:99:847,0,788 1 156639753 156639753 G A exonic NES synonymous SNV NES:NM_006617:exon4:c.C4227T:p.S1409S 0.62 0.39 0.68 0.86 0.63 0.63 0.6230 0.4002 0.6836 0.8493 0.6064 0.6255 0.5964 0.5881 0.54 0.4 0.62 0.59 0.56 rs11582300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6290 0.3901 0.6857 0.6368 0.8578 0.6079 0.6230 0.6324 0.5881 0.5703 0.3979 0.6550 0.6589 0.8674 0.6088 0.6204 0.6091 het 630.31 52 1 156639753 . G A 630.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.874;DP=52;Dels=0.00;FS=2.433;HRun=0;HaplotypeScore=0.9159;MQ=58.83;MQ0=0;MQRankSum=-1.842;QD=12.12;ReadPosRankSum=0.571;VQSLOD=5.3605;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,23:52:99:660,0,795 1 156640156 156640156 G A exonic NES nonsynonymous SNV NES:NM_006617:exon4:c.C3824T:p.P1275L 0.72 0.71 0.71 0.87 0.66 0.67 0.6745 0.6941 0.7115 0.8565 0.6574 0.6514 0.6604 0.6387 0.66 0.69 0.64 0.69 0.62 rs3748570 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.292 N 1.000 0.205 P -1.04 0.011 N -1.7 0.831 D 3.27 0.001 N 0.054 0.077 -1.028 0.212 T 0.043 0.187 T . . . 0.790 0.169 9.401 0.655 0.076 0.031 0.080 N c -1.070 -0.784 1.000 0.500 0.722 0.854 0 4.95 0.648 1.235 0.321 0.244 0.267 0.995 0.385 0.984 0.507 4.630 0.118 . ENSG00000272068.1 Colon_Transverse 0.6759 0.6943 0.7140 0.7120 0.8644 0.6617 0.6451 0.6814 0.6275 0.6756 0.6954 0.6911 0.7450 0.8705 0.6612 0.6444 0.6670 het 2753.75 187 1 156640156 . G A 2753.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.284;DP=187;Dels=0.00;FS=4.226;HRun=0;HaplotypeScore=4.5480;MQ=59.29;MQ0=0;MQRankSum=-0.377;QD=14.73;ReadPosRankSum=-0.001;VQSLOD=5.2430;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:80,107:187:99:2784,0,2121 1 156640308 156640308 C T exonic NES synonymous SNV NES:NM_006617:exon4:c.G3672A:p.T1224T 0.22 0.016 0.29 0.29 0.3 0.31 0.2631 0.0524 0.2558 0.2684 0.2340 0.2926 0.2687 0.2985 0.21 0.063 0.29 0.2 0.19 rs3748571 COSM1559925 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2568 0.0471 0.2509 0.2245 0.2787 0.2355 0.2899 0.2749 0.2597 0.2146 0.0556 0.2446 0.2185 0.2528 0.2430 0.2917 0.2602 het 2654.21 209 1 156640308 . C T 2654.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.424;DP=209;DS;Dels=0.00;FS=5.924;HRun=0;HaplotypeScore=8.9388;MQ=59.58;MQ0=0;MQRankSum=0.474;QD=12.70;ReadPosRankSum=-0.430;VQSLOD=4.4470;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,98:209:99:2684,0,2904 1 156640503 156640503 C T exonic NES synonymous SNV NES:NM_006617:exon4:c.G3477A:p.G1159G 0.22 0.016 0.29 0.29 0.3 0.31 0.2583 0.0521 0.2559 0.2687 0.2342 0.2897 0.2577 0.2667 0.21 0.063 0.29 0.2 0.18 rs3828043 COSM3750432 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2593 0.0473 0.2530 0.2295 0.2791 0.2369 0.2926 0.2781 0.2624 0.2140 0.0554 0.2458 0.2167 0.2506 0.2431 0.2910 0.2602 het 2129.32 129 1 156640503 . C T 2129.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.842;DP=129;Dels=0.00;FS=2.308;HRun=2;HaplotypeScore=2.2426;MQ=59.46;MQ0=0;MQRankSum=0.511;QD=16.51;ReadPosRankSum=1.231;VQSLOD=6.2490;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,77:129:99:2159,0,1405 1 156640678 156640678 G A exonic NES nonsynonymous SNV NES:NM_006617:exon4:c.C3302T:p.P1101L 0.62 0.39 0.67 0.86 0.65 0.63 0.6389 0.4001 0.6892 0.8475 0.6576 0.6459 0.6290 0.5946 0.56 0.41 0.64 0.59 0.34 rs2886443 COSM424142 1(thyroid) . . . . . . . . . . . 0.628 0.052 T 0.001 0.067 B 0.0 0.013 B 0.627 0.058 N 1 0.090 P 0.55 0.145 N -1.91 0.847 D 0.43 0.033 N 0.041 0.029 -0.989 0.329 T 0.191 0.544 T . . . -0.148 0.080 1.398 0.400 0.028 0.014 0.047 N c -1.674 -1.771 1.000 0.747 0.732 0.924 0 -4.17 0.036 -5.265 0.002 -0.778 0.033 0.000 0.063 0.000 0.016 4.053 0.092 . ENSG00000272068.1|ENSG00000272405.1 Colon_Transverse|Esophagus_Mucosa 0.6458 0.3932 0.6908 0.6916 0.8554 0.6622 0.6397 0.6532 0.5940 0.5847 0.3973 0.6736 0.7007 0.8631 0.6616 0.6354 0.6302 het 270.43 25 1 156640678 . G A 270.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.971;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.07;MQ0=0;MQRankSum=0.582;QD=10.82;ReadPosRankSum=0.693;VQSLOD=5.8765;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,10:25:99:300,0,437 1 156641537 156641537 C T exonic NES nonsynonymous SNV NES:NM_006617:exon4:c.G2443A:p.V815I 0.2 0.036 0.27 0.12 0.34 0.33 0.3053 0.0803 0.2790 0.1374 0.3432 0.3465 0.3278 0.3704 0.27 0.091 0.35 0.17 0.35 rs951781 COSM146641 1(stomach);1(large_intestine) . . . . . . . . . . . 0.18 0.219 T 0.026 0.181 B 0.001 0.040 B 0.393 0.045 N 1 0.090 P 1.4 0.355 L -1.96 0.851 D -0.43 0.144 N 0.007 0.000 -0.860 0.513 T 0.216 0.578 T . . . -0.095 0.085 1.771 0.789 0.121 0.043 0.097 N c -1.281 -1.363 1.000 0.747 0.707 0.730 0 -4.93 0.028 -1.579 0.022 -0.841 0.030 0.000 0.063 0.001 0.043 7.434 0.262 . ENSG00000132692.14|ENSG00000272068.1|ENSG00000272405.1 Colon_Transverse|Colon_Transverse|Esophagus_Mucosa 0.3054 0.0766 0.2731 0.2837 0.1294 0.3370 0.3514 0.3092 0.3699 0.2606 0.0836 0.2955 0.2550 0.1218 0.3380 0.3545 0.3279 het 1113.93 88 1 156641537 . C T 1113.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.166;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7279;MQ=59.53;MQ0=0;MQRankSum=0.385;QD=12.66;ReadPosRankSum=1.564;VQSLOD=5.9626;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,41:88:99:1144,0,1205 1 156646668 156646668 A G exonic NES nonsynonymous SNV NES:NM_006617:exon1:c.T389C:p.V130A 1. 0.99 1. 1. 1. 1. 0.9996 0.9943 0.9998 0.9997 1 0.9999 1 1 1. 0.99 1. 0.47 0.39 rs4278369 COSM3750433 2(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.196 P -0.425 0.029 N -2.53 0.894 D 1.31 0.009 N 0.042 0.045 -1.065 0.104 T 0.197 0.552 T . . . -1.327 0.021 0.004 0.350 0.022 0.008 0.034 N c -1.302 -1.280 1.000 0.517 0.733 0.969 0 1.39 0.212 0.668 0.246 -0.458 0.055 0.348 0.255 0.007 0.100 7.750 0.279 . . . 0.9997 0.9936 0.9998 1 0.9998 1 1.0000 0.9997 1 0.9987 0.9955 1 1 1 1 0.9999 1 hom 530.50 21 1 156646668 . A G 530.50 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9947;MQ=56.66;MQ0=0;QD=25.26;VQSLOD=2.8296;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:42.13:563,42,0 1 156705593 156705593 G C exonic RRNAD1 nonsynonymous SNV RRNAD1:NM_001142560:exon6:c.G713C:p.R238P,RRNAD1:NM_015997:exon7:c.G1198C:p.V400L 0.97 0.89 0.99 1. 1. 1. 0.9922 0.9140 0.9959 1 1 0.9999 0.9967 0.9999 0.97 0.92 1. 0.96 1. rs4311877 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.088 0.205 N 1.000 0.196 P . . . 1.07 0.396 T 2.35 0.003 N 0.042 0.022 -0.948 0.414 T 0.009 0.034 T . . . 1.039 0.194 10.88 0.965 0.296 0.254 0.225 N c -0.941 -0.682 1.000 0.747 0.672 0.522 0 1.63 0.228 1.192 0.315 0.067 0.174 1.000 0.715 0.998 0.697 11.449 0.492 . . . 0.9938 0.9116 0.9963 0.9999 0.9999 1 0.9999 0.9971 0.9998 0.9770 0.9199 0.9952 1 1 1 0.9997 0.9958 hom 4031.84 116 1 156705593 . G C 4031.84 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5990;MQ=59.80;MQ0=0;QD=34.76;VQSLOD=7.4755;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:4031,316,0 1 156784982 156784982 T C exonic SH2D2A nonsynonymous SNV SH2D2A:NM_001161443:exon2:c.A71G:p.N24S,SH2D2A:NM_001161441:exon3:c.A155G:p.N52S,SH2D2A:NM_001161442:exon3:c.A101G:p.N34S,SH2D2A:NM_001161444:exon3:c.A155G:p.N52S,SH2D2A:NM_003975:exon3:c.A155G:p.N52S 0.59 0.32 0.63 0.82 0.66 0.64 0.6612 0.4187 0.6961 0.8311 0.6562 0.6626 0.6776 0.6828 0.55 0.38 0.64 0.52 0.55 rs926103 . . . . . . . . . . . . . 0.711 0.041 T 0.0 0.026 B 0.0 0.013 B 0.001 0.007 N 1 0.090 P -0.11 0.046 N 0.55 0.547 T 0.07 0.068 N 0.001 0.000 -1.042 0.165 T 0.014 0.054 T . . . -4.184 0.000 0.001 0.276 0.014 0.004 0.021 N c -2.194 -2.261 1.000 0.747 0.615 0.372 0 -9.87 0.004 -1.585 0.022 -2.434 0.003 0.000 0.063 0.000 0.016 0.994 0.014 . ENSG00000027869.7 Cells_Transformed_fibroblasts 0.6429 0.3743 0.6765 0.6037 0.8213 0.6340 0.6425 0.6332 0.6559 0.5738 0.3873 0.6706 0.5828 0.8319 0.6306 0.6323 0.6242 het 41.21 12 1 156784982 . T C 41.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.370;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.555;QD=3.43;ReadPosRankSum=-0.185;VQSLOD=8.7808;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,3:12:71.20:71,0,258 1 156846233 156846233 G A exonic NTRK1 synonymous SNV NTRK1:NM_001012331:exon13:c.G1656A:p.Q552Q,NTRK1:NM_001007792:exon14:c.G1566A:p.Q522Q,NTRK1:NM_002529:exon14:c.G1674A:p.Q558Q 0.21 0.11 0.22 0.32 0.2 0.25 0.2203 0.1350 0.2174 0.3553 0.2096 0.2145 0.2220 0.2327 0.19 0.14 0.22 0.14 0.24 rs6334 COSM3750440;COSM3750439 7(soft_tissue);1(large_intestine) Benign Hereditary_insensitivity_to_pain_with_anhidrosis RCV000366755.1 MedGen:OMIM:Orphanet:SNOMED_CT C0020074:256800:ORPHA642:62985007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2202 0.1332 0.2154 0.1986 0.3505 0.2025 0.2147 0.2238 0.2353 0.1995 0.1354 0.2076 0.2167 0.3626 0.2084 0.2161 0.2055 het 975.91 69 1 156846233 . G A 975.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.519;DP=69;Dels=0.00;FS=3.243;HRun=1;HaplotypeScore=0.9989;MQ=59.46;MQ0=0;MQRankSum=1.684;QD=14.14;ReadPosRankSum=0.796;VQSLOD=6.2406;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,40:69:99:1006,0,759 1 156848918 156848918 C T exonic NTRK1 nonsynonymous SNV NTRK1:NM_001012331:exon14:c.C1792T:p.H598Y,NTRK1:NM_001007792:exon15:c.C1702T:p.H568Y,NTRK1:NM_002529:exon15:c.C1810T:p.H604Y 0.024 0.0038 0.029 . 0.041 0.057 0.0425 0.0091 0.0242 0.0005 0.0293 0.0550 0.0415 0.0525 0.044 0.012 0.06 0.022 0.016 rs6336 COSM5019976;COSM5019975 2(soft_tissue) Pathogenic|Pathogenic|other Familial_medullary_thyroid_carcinoma|Hereditary_insensitivity_to_pain_with_anhidrosis|Hereditary_insensitivity_to_pain_with_anhidrosis RCV000013100.23|RCV000030667.24|RCV000030674.2 MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT C1833921:155240:ORPHA99361|C0020074:256800:ORPHA642:62985007|C0020074:256800:ORPHA642:62985007 . . . . . . 0.001 0.912 D 0.998 0.764 D 0.981 0.736 D 0.000 0.537 D 1 0.810 A 1.33 0.334 L -1.68 0.829 D -5.34 0.846 D 0.735 0.741 0.178 0.855 D 0.529 0.825 D . . . 5.987 0.823 27.8 0.998 0.885 0.994 0.961 D c 0.599 0.602 1.000 0.747 0.598 0.340 0 4.37 0.517 7.827 0.848 0.935 0.490 1.000 0.715 0.994 0.587 15.985 0.798 Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase\x2c catalytic domain . . 0.0417 0.0083 0.0233 0.0641 0.0003 0.0271 0.0552 0.0510 0.0552 0.0369 0.0108 0.0216 0.0762 0.0006 0.0335 0.0569 0.0378 het 560.80 53 1 156848918 . C T 560.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.842;DP=53;Dels=0.00;FS=1.072;HRun=0;HaplotypeScore=0.7340;MQ=58.85;MQ0=0;MQRankSum=0.074;QD=10.58;ReadPosRankSum=-0.700;VQSLOD=5.6920;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,24:53:99:591,0,721 1 156848946 156848946 G T exonic NTRK1 nonsynonymous SNV NTRK1:NM_001012331:exon14:c.G1820T:p.G607V,NTRK1:NM_001007792:exon15:c.G1730T:p.G577V,NTRK1:NM_002529:exon15:c.G1838T:p.G613V 0.023 0.0015 0.029 . 0.038 0.056 0.0424 0.0094 0.0242 0.0005 0.0298 0.0549 0.0412 0.0519 0.044 0.012 0.06 0.022 0.016 rs6339 COSM3750441;COSM3750442 2(soft_tissue);1(large_intestine) Pathogenic|Pathogenic|other|Benign Familial_medullary_thyroid_carcinoma|Hereditary_insensitivity_to_pain_with_anhidrosis|Hereditary_insensitivity_to_pain_with_anhidrosis|not_specified RCV000013101.17|RCV000030667.24|RCV000031916.2|RCV000127263.1 MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C1833921:155240:ORPHA99361|C0020074:256800:ORPHA642:62985007|C0020074:256800:ORPHA642:62985007|CN169374 . . . . . . 0.023 0.481 D 0.009 0.368 B 0.027 0.344 B 0.350 0.138 N 1.000 0.588 A 1.37 0.343 L -2.4 0.885 D -2.72 0.579 D 0.393 0.539 -0.584 0.655 T 0.333 0.701 T . . . 2.932 0.413 22.0 0.992 0.565 0.943 0.606 D c -0.019 0.092 0.999 0.384 0.598 0.340 0 3.44 0.383 3.655 0.540 1.048 0.713 0.831 0.299 0.755 0.323 4.986 0.134 Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase\x2c catalytic domain . . 0.0417 0.0084 0.0232 0.0639 0.0003 0.0274 0.0553 0.0507 0.0549 0.0371 0.0107 0.0215 0.0762 0.0006 0.0338 0.0573 0.0359 het 559.38 52 1 156848946 . G T 559.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.491;DP=52;Dels=0.00;FS=4.244;HRun=1;HaplotypeScore=0.9867;MQ=58.38;MQ0=0;MQRankSum=1.121;QD=10.76;ReadPosRankSum=0.898;VQSLOD=5.4427;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:589,0,729 1 156848995 156848995 C T exonic NTRK1 synonymous SNV NTRK1:NM_001012331:exon14:c.C1869T:p.A623A,NTRK1:NM_001007792:exon15:c.C1779T:p.A593A,NTRK1:NM_002529:exon15:c.C1887T:p.A629A 0.33 0.14 0.57 0.044 0.71 0.34 0.5724 0.2049 0.5699 0.0365 0.7328 0.7286 0.6141 0.3894 0.56 0.23 0.73 0.28 0.64 rs6337 COSM4142850;COSM4142851 2(thyroid) Benign Hereditary_insensitivity_to_pain_with_anhidrosis RCV000287221.1 MedGen:OMIM:Orphanet:SNOMED_CT C0020074:256800:ORPHA642:62985007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5806 0.1951 0.5753 0.7514 0.0396 0.7311 0.7246 0.6377 0.3930 0.5379 0.2079 0.5919 0.7351 0.0433 0.7278 0.7271 0.6219 hom 1302.82 37 1 156848995 . C T 1302.82 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=56.93;MQ0=0;QD=35.21;VQSLOD=6.7967;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1336,108,0 1 156877457 156877457 T C exonic PEAR1 nonsynonymous SNV PEAR1:NM_001080471:exon7:c.T700C:p.S234P 0.98 0.91 1. 1. 1. 1. 0.9936 0.9301 0.9977 1 1 0.9998 0.9978 0.9997 0.98 0.93 1. 0.95 1. rs1952294 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.010 0.300 N 1.000 0.202 P -1.155 0.009 N 0.69 0.517 T 3.53 0.001 N 0.068 0.055 -0.972 0.368 T 0.009 0.031 T . . . 1.087 0.198 11.15 0.901 0.188 0.033 0.082 N c -0.889 -0.576 1.000 0.747 0.731 0.878 0 5.04 0.672 1.710 0.373 0.016 0.142 0.921 0.317 0.996 0.625 7.681 0.275 EGF-like domain . . 0.9952 0.9309 0.9975 0.9983 1 1 0.9998 0.9982 0.9998 0.9796 0.9287 0.9988 1 1 1 0.9997 0.9969 hom 8170.72 249 1 156877457 . T C 8170.72 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0063;MQ=59.10;MQ0=0;QD=32.81;VQSLOD=4.6477;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8170,650,0 1 156883546 156883546 A G exonic PEAR1 nonsynonymous SNV PEAR1:NM_001080471:exon21:c.A2707G:p.N903D 0.45 0.26 0.56 0.59 0.39 0.55 0.4337 0.2593 0.6125 0.5871 0.4086 0.3976 0.4040 0.4957 0.35 0.26 0.41 0.37 0.34 rs12137505 . . . . . . . . . . . . . 0.359 0.119 T 0.094 0.238 B 0.016 0.166 B 0.933 0.075 N 1 0.090 P 1.79 0.469 L -2.37 0.882 D -1.38 0.342 N 0.029 0.010 -0.991 0.324 T 0.201 0.558 T . . . -1.099 0.028 0.010 0.580 0.058 0.095 0.151 N c -1.359 -1.397 1.000 0.747 0.672 0.522 0 -3.91 0.039 -0.337 0.078 -0.351 0.070 0.000 0.063 0.002 0.062 6.234 0.198 . ENSG00000160838.9|ENSG00000132694.14 Adipose_Visceral_Omentum|Thyroid 0.4413 0.2574 0.5904 0.3901 0.5932 0.4014 0.3983 0.4227 0.4892 0.3659 0.2595 0.5919 0.4139 0.5981 0.3946 0.3819 0.3747 het 1230.85 83 1 156883546 . A G 1230.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.531;DP=83;Dels=0.00;FS=0.935;HRun=0;HaplotypeScore=1.7256;MQ=59.72;MQ0=0;MQRankSum=0.526;QD=14.83;ReadPosRankSum=1.549;VQSLOD=6.3247;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,50:83:99:1261,0,866 1 157062696 157062696 G T exonic ETV3L synonymous SNV ETV3L:NM_001004341:exon5:c.C831A:p.L277L 0.22 0.091 0.26 0.24 0.37 0.21 0.3100 0.1330 0.2416 0.2132 0.3153 0.3799 0.3244 0.2334 0.3 0.14 0.38 0.17 0.41 rs1176537 COSM3750446;COSM1162576 1(kidney);1(pancreas);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3079 0.1249 0.2533 0.3503 0.2090 0.3104 0.3786 0.3519 0.2345 0.3044 0.1377 0.2637 0.3543 0.2043 0.3324 0.4038 0.3596 het 680.71 48 1 157062696 . G T 680.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.415;DP=48;Dels=0.00;FS=2.763;HRun=0;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=0.454;QD=14.18;ReadPosRankSum=0.598;VQSLOD=6.2702;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,25:48:99:711,0,597 1 157062739 157062739 C G exonic ETV3L nonsynonymous SNV ETV3L:NM_001004341:exon5:c.G788C:p.G263A 0.15 0.1 0.13 0.21 0.2 0.12 0.1877 0.1166 0.0930 0.2467 0.2730 0.2086 0.2120 0.1479 0.17 0.11 0.2 0.13 0.082 rs12136960 COSM3750447;COSM3750448 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.031 0.450 D 0.734 0.408 P 0.187 0.345 B . . . 1 0.090 P 1.04 0.263 L 1.29 0.358 T -1.49 0.364 N 0.054 0.036 -1.047 0.152 T 0.021 0.091 T . . . 2.997 0.420 22.2 0.944 0.243 0.064 0.122 N c -0.695 -0.816 0.098 0.163 0.554 0.283 0 0.879 0.182 1.122 0.307 -0.422 0.059 0.003 0.159 0.000 0.016 6.740 0.225 . ENSG00000160838.9 Testis 0.1830 0.1096 0.0905 0.1802 0.2342 0.2697 0.2058 0.1749 0.1492 0.1803 0.1145 0.1396 0.1954 0.2234 0.2673 0.1952 0.1861 het 439.03 44 1 157062739 . C G 439.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.732;DP=44;Dels=0.00;FS=2.648;HRun=0;HaplotypeScore=0.8941;MQ=56.71;MQ0=0;MQRankSum=1.143;QD=9.98;ReadPosRankSum=0.577;VQSLOD=3.4664;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,20:44:99:469,0,678 1 157508882 157508882 C T exonic FCRL5 nonsynonymous SNV FCRL5:NM_001195388:exon7:c.G1396A:p.V466I,FCRL5:NM_031281:exon7:c.G1396A:p.V466I 0.69 0.32 0.81 0.79 0.85 0.85 0.8142 0.4015 0.8291 0.7772 0.8806 0.8622 0.8429 0.8609 0.7 0.41 0.85 0.64 0.7 rs6427384 COSM5827546;COSM3750457;COSM3750455;COSM3750456 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.342 0.139 T 0.056 0.403 B 0.027 0.370 B . . . 1 0.090 P 1.59 0.404 L 2.74 0.117 T -0.28 0.172 N 0.078 0.078 -0.965 0.382 T 0.008 0.026 T . . . 0.342 0.127 6.095 0.967 0.300 0.009 0.035 N c -1.276 -1.391 0.169 0.177 0.625 0.396 0 -1.74 0.076 -1.488 0.024 -3.268 0.001 0.000 0.063 0.000 0.016 3.012 0.056 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000143297.14 Whole_Blood 0.8214 0.3878 0.8286 0.8764 0.7794 0.8842 0.8568 0.8387 0.8595 0.7273 0.3984 0.7983 0.8841 0.7963 0.8892 0.8584 0.8473 hom 3047.62 95 1 157508882 . C T 3047.62 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=59.12;MQ0=0;QD=32.08;VQSLOD=9.5889;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3081,253,0 1 157509025 157509025 C T exonic FCRL5 nonsynonymous SNV FCRL5:NM_001195388:exon7:c.G1253A:p.G418D,FCRL5:NM_031281:exon7:c.G1253A:p.G418D 0.84 0.73 0.84 0.88 0.86 0.93 0.8667 0.7588 0.8524 0.8716 0.8835 0.8708 0.875 0.9184 0.82 0.76 0.86 0.83 0.75 rs2012199 COSM3750458;COSM3750460;COSM3750459;COSM5827547 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.144 B 0.004 0.173 B 0.280 0.038 N 1 0.090 P -0.665 0.020 N 3.47 0.052 T 0.48 0.030 N 0.066 0.067 -0.931 0.440 T 0.002 0.005 T . . . -1.369 0.020 0.004 0.078 0.001 0.001 0.008 N c -1.833 -1.837 0.690 0.226 0.0 0.000 3 -3.79 0.040 -1.012 0.037 -0.354 0.069 0.000 0.063 0.001 0.043 7.407 0.260 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000143297.14 Whole_Blood 0.8671 0.7542 0.8527 0.8918 0.8754 0.8872 0.8655 0.8688 0.9172 0.8404 0.7534 0.8294 0.8940 0.8863 0.8904 0.8718 0.8747 hom 4222.13 129 1 157509025 . C T 4222.13 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6728;MQ=59.82;MQ0=0;QD=32.73;VQSLOD=8.4670;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4222,346,0 1 157514091 157514091 C T exonic FCRL5 nonsynonymous SNV FCRL5:NM_001195388:exon5:c.G805A:p.V269I,FCRL5:NM_031281:exon5:c.G805A:p.V269I 0.2 0.29 0.17 0.078 0.24 0.17 0.1923 0.2968 0.1197 0.0819 0.1946 0.2063 0.1993 0.1768 0.24 0.29 0.21 0.27 0.19 rs12036228 . . . . . . . . . . . . . 0.689 0.043 T 0.032 0.285 B 0.053 0.294 B . . . 1 0.090 P 0.675 0.164 N 2.7 0.122 T -0.37 0.158 N 0.049 0.037 -0.912 0.466 T 0.007 0.024 T . . . -0.280 0.070 0.736 0.750 0.105 0.004 0.019 N c -1.632 -1.679 0.003 0.101 0.732 0.924 0 -1.58 0.080 -2.218 0.013 -1.199 0.016 0.000 0.063 0.000 0.016 10.547 0.441 Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000143297.14|ENSG00000143297.14 Spleen|Whole_Blood 0.1893 0.2963 0.1299 0.2273 0.0845 0.1947 0.2070 0.2014 0.1771 0.2200 0.2955 0.1355 0.2748 0.0854 0.2029 0.2012 0.1752 het 2743 242 1 157514091 . C T 2743 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.029;DP=242;DS;Dels=0.00;FS=2.200;HRun=0;HaplotypeScore=3.7658;MQ=59.73;MQ0=0;MQRankSum=0.093;QD=11.33;ReadPosRankSum=-0.618;VQSLOD=5.6981;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:134,108:242:99:2773,0,3693 1 157514097 157514097 A G exonic FCRL5 nonsynonymous SNV FCRL5:NM_001195388:exon5:c.T799C:p.Y267H,FCRL5:NM_031281:exon5:c.T799C:p.Y267H 0.71 0.41 0.73 0.91 0.82 0.76 0.7814 0.4658 0.7262 0.9030 0.8412 0.8212 0.7896 0.7694 0.7 0.47 0.81 0.64 0.71 rs6679793 COSM5764869;COSM5764872;COSM5764871;COSM5764870 1(large_intestine) . . . . . . . . . . . 0.597 0.066 T 0.0 0.067 B 0.001 0.093 B 0.012 0.013 N 1 0.090 P -1.35 0.007 N 2.82 0.109 T 1.14 0.012 N 0.011 0.002 -0.949 0.412 T 0.003 0.008 T . . . -1.630 0.014 0.002 0.205 0.007 0.009 0.035 N c -1.711 -1.735 0.253 0.187 0.732 0.924 0 -5.95 0.020 -2.058 0.015 -0.667 0.040 0.000 0.063 0.000 0.016 3.426 0.069 Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000143297.14 Whole_Blood 0.7846 0.4577 0.7271 0.8082 0.9010 0.8486 0.8176 0.7941 0.7697 0.7268 0.4680 0.7267 0.8079 0.9047 0.8509 0.8211 0.8218 hom 8286.76 241 1 157514097 . A G 8286.76 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0319;MQ=59.73;MQ0=0;QD=34.38;VQSLOD=8.5380;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:8286,650,0 1 157557701 157557701 G A exonic FCRL4 synonymous SNV FCRL4:NM_031282:exon4:c.C516T:p.D172D 0.5 0.36 0.54 0.68 0.43 0.54 0.4813 0.3821 0.5396 0.6894 0.5121 0.4464 0.4756 0.5195 0.41 0.38 0.43 0.47 0.27 rs2777962 COSM3750461 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4802 0.3779 0.5377 0.4804 0.6896 0.5085 0.4312 0.4697 0.5082 0.4571 0.3788 0.4976 0.4801 0.7002 0.5077 0.4603 0.4796 het 816.49 58 1 157557701 . G A 816.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.416;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=-0.234;QD=14.08;ReadPosRankSum=1.169;VQSLOD=6.4745;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:846,0,677 1 157668390 157668390 T C exonic FCRL3 nonsynonymous SNV FCRL3:NM_001320333:exon4:c.A82G:p.N28D,FCRL3:NM_052939:exon4:c.A82G:p.N28D 0.47 0.62 0.45 0.43 0.5 0.29 0.4503 0.6330 0.4549 0.4048 0.4235 0.4651 0.4249 0.3077 0.52 0.63 0.46 0.56 0.5 rs7522061 COSM4984965;COSM4984964 10(soft_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.268 0.152 N 1 0.090 P -0.46 0.027 N 2.73 0.119 T -0.95 0.253 N 0.009 0.002 -0.983 0.343 T 0.004 0.015 T . . . -2.900 0.001 0.001 0.497 0.042 0.004 0.022 N c -2.073 -2.166 1.000 0.747 0.549 0.223 0 -10.7 0.002 -0.572 0.059 -2.138 0.004 0.000 0.063 0.002 0.062 10.548 0.441 Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000160856.16|ENSG00000160856.16|ENSG00000227217.1|ENSG00000160856.16|ENSG00000227217.1|ENSG00000160856.16|ENSG00000227217.1|ENSG00000160856.16 Adipose_Subcutaneous|Esophagus_Mucosa|Lung|Lung|Spleen|Spleen|Whole_Blood|Whole_Blood 0.4474 0.6371 0.4569 0.4749 0.4030 0.4210 0.4642 0.4560 0.3157 0.4925 0.6295 0.4761 0.4433 0.3986 0.4344 0.4420 0.4357 het 1316.81 108 1 157668390 . T C 1316.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.723;DP=108;Dels=0.00;FS=0.803;HRun=0;HaplotypeScore=4.1363;MQ=59.40;MQ0=0;MQRankSum=1.170;QD=12.19;ReadPosRankSum=-0.051;VQSLOD=6.1359;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,52:108:99:1347,0,1416 1 157768000 157768000 G C exonic FCRL1 synonymous SNV FCRL1:NM_001159397:exon7:c.C948G:p.T316T,FCRL1:NM_001159398:exon8:c.C1065G:p.T355T,FCRL1:NM_052938:exon8:c.C1065G:p.T355T 0.23 0.34 0.2 0.19 0.24 0.14 0.2317 0.3089 0.2390 0.1689 0.2311 0.2464 0.1908 0.1506 0.27 0.31 0.24 0.27 0.23 rs3811024 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2276 0.3089 0.2347 0.2538 0.1732 0.2291 0.2421 0.2227 0.1489 0.2531 0.3029 0.2165 0.2417 0.1714 0.2487 0.2375 0.2327 het 698.75 58 1 157768000 . G C 698.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.385;DP=58;Dels=0.00;FS=0.982;HRun=0;HaplotypeScore=0.5784;MQ=59.36;MQ0=0;MQRankSum=-0.930;QD=12.05;ReadPosRankSum=0.711;VQSLOD=6.4455;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,32:58:99:729,0,638 1 157771880 157771880 C T exonic FCRL1 synonymous SNV FCRL1:NM_001159397:exon5:c.G711A:p.P237P,FCRL1:NM_001159398:exon5:c.G711A:p.P237P,FCRL1:NM_052938:exon5:c.G711A:p.P237P 0.39 0.064 0.51 0.52 0.49 0.5 0.4879 0.1260 0.5055 0.5445 0.5861 0.5177 0.5354 0.5111 0.39 0.14 0.51 0.35 0.5 rs4971154 COSM3750464;COSM3750465 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4958 0.1161 0.4947 0.5151 0.5424 0.5837 0.5176 0.5152 0.5073 0.4236 0.1253 0.4893 0.5167 0.5443 0.5658 0.5390 0.5245 het 1219.94 90 1 157771880 . C T 1219.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.756;DP=90;Dels=0.00;FS=2.819;HRun=1;HaplotypeScore=2.5550;MQ=59.79;MQ0=0;MQRankSum=0.892;QD=13.55;ReadPosRankSum=-1.998;VQSLOD=4.9562;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,44:90:99:1250,0,1276 1 158450314 158450314 A G exonic OR10R2 nonsynonymous SNV OR10R2:NM_001004472:exon1:c.A647G:p.E216G 0.5 0.48 0.44 0.57 0.56 0.42 0.5226 0.4831 0.4240 0.5540 0.6466 0.5529 0.5650 0.4258 0.52 0.48 0.53 0.5 0.53 rs6679056 COSM4415536 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.038 0.427 D 0.041 0.200 B 0.06 0.253 B . . . 1.000 0.090 P 2.125 0.592 M 8.41 0.003 T -5.94 0.891 D 0.217 0.266 -1.019 0.239 T 0.000 0.001 T . . . 3.133 0.436 22.6 0.996 0.723 0.150 0.185 N c -0.358 -0.362 0.047 0.147 0.603 0.348 0 4.37 0.517 1.770 0.379 0.982 0.598 0.017 0.192 0.267 0.231 8.317 0.311 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000197403.2 Lung 0.5216 0.4773 0.4392 0.5877 0.5553 0.6310 0.5440 0.5369 0.4303 0.5382 0.4763 0.4845 0.6133 0.5578 0.6252 0.5504 0.5827 het 2161.54 202 1 158450314 . A G 2161.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.690;DP=202;Dels=0.00;FS=1.140;HRun=1;HaplotypeScore=6.3671;MQ=59.49;MQ0=0;MQRankSum=0.040;QD=10.70;ReadPosRankSum=-0.320;VQSLOD=4.8549;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:116,86:202:99:2192,0,3040 1 158450382 158450382 C T exonic OR10R2 nonsynonymous SNV OR10R2:NM_001004472:exon1:c.C715T:p.L239F 0.43 0.38 0.38 0.57 0.46 0.38 0.4406 0.3893 0.3778 0.5529 0.5313 0.4486 0.4780 0.3878 0.42 0.39 0.43 0.43 0.47 rs1418843 . . . . . . . . . . . . . 0.018 0.506 D 0.336 0.316 B 0.195 0.349 B . . . 1 0.090 P 0.24 0.097 N 8.66 0.002 T -1.45 0.356 N 0.03 0.011 -1.140 0.014 T 0.000 0.000 T . . . 2.022 0.304 16.35 0.991 0.509 0.005 0.022 N c -1.118 -1.125 0.009 0.117 0.487 0.133 0 -1.39 0.085 -8.749 0.000 -0.626 0.042 0.000 0.063 0.314 0.240 1.324 0.020 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000163554.7|ENSG00000163554.7 Artery_Tibial|Muscle_Skeletal 0.4410 0.3847 0.3866 0.4271 0.5548 0.5267 0.4454 0.4435 0.3904 0.4434 0.3779 0.4258 0.4233 0.5563 0.5069 0.4536 0.4804 het 1194.18 107 1 158450382 . C T 1194.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.459;DP=107;Dels=0.00;FS=3.645;HRun=1;HaplotypeScore=1.8661;MQ=59.78;MQ0=0;MQRankSum=0.984;QD=11.16;ReadPosRankSum=-0.657;VQSLOD=6.2855;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,44:107:99:1224,0,1793 1 158517142 158517142 C T exonic OR6Y1 nonsynonymous SNV OR6Y1:NM_001005189:exon1:c.G754A:p.V252I 0.2 0.054 0.22 0.38 0.24 0.17 0.2317 0.0851 0.2467 0.3765 0.2985 0.2405 0.2852 0.1723 0.18 0.09 0.23 0.17 0.28 rs41273491 COSM170744 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.037 0.430 D 0.983 0.585 D 0.523 0.465 P 0.002 0.378 N 1 0.090 P 2.48 0.723 M 8.43 0.003 T -0.89 0.240 N 0.062 0.047 -0.967 0.379 T 0.000 0.002 T . . . 2.347 0.343 18.47 0.988 0.468 0.120 0.168 N c 0.000 -0.096 0.000 0.052 0.487 0.133 0 3.5 0.390 0.908 0.280 -0.341 0.072 0.003 0.159 0.195 0.216 6.228 0.198 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2357 0.0831 0.2477 0.2314 0.3792 0.2952 0.2357 0.2475 0.1739 0.2069 0.0793 0.2698 0.2517 0.3989 0.2938 0.2329 0.2341 het 2448.67 182 1 158517142 . C T 2448.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.936;DP=182;DS;Dels=0.00;FS=0.557;HRun=0;HaplotypeScore=4.7205;MQ=59.12;MQ0=0;MQRankSum=-0.545;QD=13.45;ReadPosRankSum=-0.061;VQSLOD=5.4189;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,92:182:99:2479,0,2377 1 158517353 158517353 G A exonic OR6Y1 synonymous SNV OR6Y1:NM_001005189:exon1:c.C543T:p.H181H 0.19 0.028 0.22 0.38 0.24 0.17 0.2294 0.0644 0.2444 0.3755 0.2988 0.2402 0.2808 0.1722 0.18 0.07 0.23 0.15 0.26 rs16840314 COSM4142876 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2334 0.0605 0.2456 0.2306 0.3780 0.2951 0.2349 0.2427 0.1738 0.2014 0.0595 0.2650 0.2517 0.4006 0.2934 0.2327 0.2336 het 964.03 66 1 158517353 . G A 964.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.508;DP=66;Dels=0.00;FS=1.088;HRun=1;HaplotypeScore=1.6828;MQ=59.37;MQ0=0;MQRankSum=-0.887;QD=14.61;ReadPosRankSum=-1.632;VQSLOD=6.0097;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,35:66:99:994,0,919 1 158549264 158549264 G A exonic OR10X1 synonymous SNV OR10X1:NM_001004477:exon1:c.C426T:p.I142I 0.5 0.57 0.41 0.59 0.47 0.41 0.4772 0.5749 0.4087 0.5720 0.5459 0.4646 0.5110 0.4353 0.49 0.57 0.44 0.55 0.49 rs863360 COSM424237 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4740 0.5736 0.4143 0.4787 0.5725 0.5419 0.4593 0.4790 0.4362 0.5085 0.5711 0.4522 0.4636 0.5709 0.5258 0.4657 0.5051 het 1426.36 85 1 158549264 . G A 1426.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.929;QD=16.78;ReadPosRankSum=-0.538;VQSLOD=12.7048;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,49:85:99:1456,0,1099 1 158549420 158549420 C T exonic OR10X1 synonymous SNV OR10X1:NM_001004477:exon1:c.G270A:p.T90T 0.52 0.63 0.42 0.59 0.47 0.41 0.4816 0.6254 0.4095 0.5714 0.5456 0.4646 0.5143 0.4355 0.5 0.62 0.45 0.55 0.51 rs863361 COSM3747572 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4775 0.6232 0.4162 0.4789 0.5723 0.5421 0.4594 0.4799 0.4366 0.5235 0.6228 0.4547 0.4636 0.5723 0.5260 0.4660 0.5071 het 1678.11 127 1 158549420 . C T 1678.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.112;DP=127;Dels=0.00;FS=2.290;HRun=0;HaplotypeScore=2.9017;MQ=58.92;MQ0=0;MQRankSum=-1.001;QD=13.21;ReadPosRankSum=1.372;VQSLOD=5.4103;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,61:127:99:1708,0,1749 1 158549492 158549492 C T exonic OR10X1 stopgain OR10X1:NM_001004477:exon1:c.G198A:p.W66X 0.5 0.57 0.41 0.59 0.47 0.41 0.4769 0.5747 0.4076 0.5711 0.5461 0.4644 0.5132 0.4355 0.49 0.57 0.44 0.55 0.5 rs863362 COSM4415422 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . 0.008 0.310 N 0.000 0.810 P . . . . . . . . . . . . . . . . . . . . 9.071 0.961 35 0.989 0.470 0.168 0.193 N c 0.623 0.385 0.000 0.057 0.487 0.133 0 4.18 0.483 -1.337 0.027 0.935 0.490 0.000 0.063 0.964 0.448 13.070 0.583 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000163554.7 Artery_Tibial 0.4740 0.5736 0.4139 0.4793 0.5724 0.5418 0.4593 0.4791 0.4364 0.5080 0.5694 0.4535 0.4636 0.5714 0.5261 0.4654 0.5041 het 1553.14 121 1 158549492 . C T 1553.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.483;DP=121;Dels=0.00;FS=3.266;HRun=0;HaplotypeScore=0.7887;MQ=59.62;MQ0=0;MQRankSum=0.394;QD=12.84;ReadPosRankSum=1.349;VQSLOD=6.5058;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,59:121:99:1583,0,1716 1 158549511 158549511 A G exonic OR10X1 nonsynonymous SNV OR10X1:NM_001004477:exon1:c.T179C:p.I60T 0.52 0.63 0.42 0.59 0.47 0.41 0.4817 0.6257 0.4092 0.5722 0.5463 0.4647 0.5143 0.4355 0.5 0.62 0.45 0.55 0.51 rs863363 COSM4415674 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.694 0.042 T 0.0 0.026 B 0.0 0.013 B 0.978 0.078 N 1 0.090 P 0.025 0.080 N 5.28 0.011 T 0.77 0.020 N 0.044 0.024 -0.996 0.310 T 0.001 0.003 T . . . -1.487 0.017 0.003 0.233 0.010 0.004 0.020 N c -1.131 -1.059 0.000 0.038 0.487 0.133 0 3.2 0.357 -1.264 0.029 0.138 0.222 0.000 0.063 0.882 0.370 4.245 0.100 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000163554.7 Artery_Tibial 0.4776 0.6233 0.4160 0.4788 0.5726 0.5420 0.4596 0.4803 0.4364 0.5230 0.6217 0.4547 0.4667 0.5705 0.5261 0.4658 0.5071 het 2034.84 132 1 158549511 . A G 2034.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.775;DP=132;Dels=0.00;FS=2.245;HRun=1;HaplotypeScore=3.3269;MQ=59.48;MQ0=0;MQRankSum=0.515;QD=15.42;ReadPosRankSum=-0.887;VQSLOD=6.1686;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,75:132:99:2065,0,1476 1 158577109 158577109 A C exonic OR10Z1 nonsynonymous SNV OR10Z1:NM_001004478:exon1:c.A881C:p.N294T 0.24 0.066 0.3 0.49 0.26 0.16 0.2637 0.0935 0.3494 0.4648 0.3466 0.2640 0.2941 0.1694 0.2 0.098 0.25 0.2 0.29 rs857685 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.991 0.782 D 0.001 0.406 N 1.000 0.186 P 1.66 0.426 L 0.84 0.475 T -4.89 0.814 D 0.208 0.255 -0.782 0.562 T 0.151 0.479 T . . . 4.058 0.545 23.7 0.994 0.622 0.883 0.479 D c 0.528 0.512 0.177 0.178 0.487 0.133 0 5.19 0.713 4.750 0.616 1.194 0.916 0.998 0.411 0.995 0.604 14.165 0.649 . . . 0.2716 0.0892 0.3476 0.2354 0.4769 0.3422 0.2579 0.2782 0.1730 0.2338 0.0895 0.3604 0.2483 0.4937 0.3382 0.2566 0.2612 het 4038.08 243 1 158577109 . A C 4038.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.192;DP=243;DS;Dels=0.00;FS=5.969;HRun=0;HaplotypeScore=4.4702;MQ=59.24;MQ0=0;MQRankSum=0.324;QD=16.62;ReadPosRankSum=0.202;VQSLOD=4.4502;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:127,116:243:99:3384,0,3502 1 158582646 158582646 T C exonic SPTA1 synonymous SNV SPTA1:NM_003126:exon51:c.A7095G:p.A2365A 0.5 0.42 0.52 0.63 0.56 0.42 0.5385 0.4234 0.5345 0.6071 0.6489 0.5635 0.5744 0.4265 0.51 0.44 0.54 0.49 0.57 rs2251969 COSM5008334 1(large_intestine) Benign|Likely benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Recessive|Hereditary_pyropoikilocytosis|Elliptocytosis RCV000252916.1|RCV000303847.1|RCV000339855.1|RCV000395962.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|CN239472|C0520739:266140:9434008|HP:0004445:C0427480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5418 0.4208 0.5439 0.5803 0.6111 0.6346 0.5552 0.5578 0.4302 0.5331 0.4155 0.5610 0.5861 0.6126 0.6305 0.5642 0.5871 het 985.52 116 1 158582646 . T C 985.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.499;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.7687;MQ=58.37;MQ0=0;MQRankSum=-0.074;QD=8.50;ReadPosRankSum=-1.012;VQSLOD=3.6858;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,43:116:99:1016,0,1989 1 158607935 158607935 T G exonic SPTA1 nonsynonymous SNV SPTA1:NM_003126:exon36:c.A5077C:p.K1693Q 0.25 0.1 0.3 0.44 0.28 0.17 0.2737 0.1201 0.3649 0.4281 0.3464 0.2767 0.3144 0.1776 0.22 0.12 0.26 0.22 0.3 rs857725 COSM5009589 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Recessive|Elliptocytosis|Hereditary_pyropoikilocytosis RCV000249864.1|RCV000306625.1|RCV000345998.1|RCV000394217.1 MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239472|HP:0004445:C0427480|C0520739:266140:9434008 . . . . . . 0.256 0.168 T 0.0 0.026 B 0.004 0.093 B 0.790 0.094 N 1 0.090 P -0.345 0.033 N 1.41 0.334 T 0.74 0.020 N 0.027 0.009 -1.006 0.282 T 0.016 0.065 T . . . -1.169 0.026 0.007 0.498 0.042 0.100 0.155 N c -1.502 -1.530 0.097 0.163 0.554 0.246 0 -5.37 0.025 -0.014 0.125 -2.171 0.004 0.000 0.063 0.009 0.108 3.751 0.080 . . . 0.2798 0.1185 0.3631 0.2381 0.4346 0.3430 0.2713 0.2907 0.1792 0.2444 0.1149 0.3652 0.2285 0.4540 0.3397 0.2673 0.2658 het 1079.64 81 1 158607935 . T G 1079.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.036;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7876;MQ=59.43;MQ0=0;MQRankSum=0.531;QD=13.33;ReadPosRankSum=1.264;VQSLOD=6.5498;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,37:81:99:1110,0,1242 1 158612236 158612236 A G exonic SPTA1 nonsynonymous SNV SPTA1:NM_003126:exon33:c.T4702C:p.C1568R 0.59 0.69 0.56 0.64 0.59 0.46 0.5789 0.6652 0.5565 0.6143 0.6550 0.5826 0.6125 0.4776 0.6 0.68 0.56 0.64 0.59 rs863931 COSM5003622 1(pancreas);1(large_intestine) Benign|Likely benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Recessive|Hereditary_pyropoikilocytosis|Elliptocytosis RCV000244890.1|RCV000288918.1|RCV000325129.1|RCV000383306.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|CN239472|C0520739:266140:9434008|HP:0004445:C0427480 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.009 0.307 N 0.997 0.229 P -2.8 0.000 N 0.87 0.464 T 4.11 0.001 N 0.067 0.072 -0.946 0.416 T 0.008 0.028 T . . . -1.334 0.021 0.004 0.221 0.009 0.110 0.162 N c -1.280 -1.120 0.005 0.108 0.554 0.246 0 1.01 0.190 0.976 0.289 0.138 0.222 0.735 0.287 0.314 0.240 10.075 0.413 . ENSG00000163554.7 Muscle_Skeletal 0.5784 0.6650 0.5648 0.6413 0.6167 0.6422 0.5727 0.5911 0.4805 0.6122 0.6602 0.5825 0.6324 0.6214 0.6409 0.5774 0.6194 het 2063.62 219 1 158612236 . A G 2063.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.213;DP=219;DS;Dels=0.00;FS=1.060;HRun=0;HaplotypeScore=2.7719;MQ=59.74;MQ0=0;MQRankSum=0.745;QD=9.42;ReadPosRankSum=0.334;VQSLOD=6.3387;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:131,88:219:99:2094,0,3377 1 158619728 158619728 A C exonic SPTA1 nonsynonymous SNV SPTA1:NM_003126:exon25:c.T3487G:p.S1163A 0.99 0.98 1. 1. 1. 1. 0.9983 0.9790 0.9994 1 1 1 1 0.9999 0.99 0.98 1. 0.97 0.93 rs2482965 . . Benign|Likely benign|Likely benign|Likely benign not_specified|Elliptocytosis|Spherocytosis\x2c_Recessive|Hereditary_pyropoikilocytosis RCV000251930.1|RCV000268434.1|RCV000321216.1|RCV000354195.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|HP:0004445:C0427480|CN239472|C0520739:266140:9434008 . . . . . . 0.488 0.080 T 0.0 0.026 B 0.001 0.040 B 0.869 0.088 N 1 0.090 P -0.69 0.019 N -0.22 0.665 T -0.65 0.189 N 0.012 0.001 -1.062 0.113 T 0.030 0.130 T . . . 0.038 0.097 2.956 0.953 0.260 0.098 0.153 N c -1.135 -1.005 0.007 0.113 0.487 0.133 0 -1.91 0.072 0.317 0.191 -0.667 0.040 0.889 0.309 0.543 0.278 6.955 0.236 . . . 0.9984 0.9775 0.9990 1 1 1 1.0000 0.9996 0.9999 0.9936 0.9773 1 1 1 1 1 0.9990 hom 947.60 33 1 158619728 . A C 947.60 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.72;VQSLOD=13.1617;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:72.24:981,72,0 1 158626378 158626378 C T exonic SPTA1 synonymous SNV SPTA1:NM_003126:exon20:c.G2874A:p.L958L 0.42 0.79 0.36 0.41 0.25 0.16 0.3093 0.7139 0.3703 0.4122 0.3348 0.2616 0.3133 0.1549 0.39 0.7 0.25 0.49 0.34 rs857691 COSM5008335 2(haematopoietic_and_lymphoid_tissue);6(large_intestine) Benign|Likely benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Recessive|Elliptocytosis|Hereditary_pyropoikilocytosis RCV000246681.1|RCV000285271.1|RCV000323972.1|RCV000372788.1 MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239472|HP:0004445:C0427480|C0520739:266140:9434008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3067 0.7212 0.3719 0.2389 0.4254 0.3331 0.2544 0.2975 0.1571 0.4052 0.7057 0.3852 0.2285 0.4462 0.3308 0.2552 0.2949 het 2419.49 215 1 158626378 . C T 2419.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.971;DP=215;Dels=0.00;FS=5.688;HRun=0;HaplotypeScore=3.5749;MQ=59.07;MQ0=0;MQRankSum=-2.053;QD=11.25;ReadPosRankSum=0.508;VQSLOD=3.6665;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:112,103:215:99:2449,0,2886 1 158631171 158631171 A C exonic SPTA1 synonymous SNV SPTA1:NM_003126:exon18:c.T2493G:p.L831L 0.24 0.14 0.3 0.41 0.25 0.16 0.2624 0.1761 0.3445 0.4134 0.3398 0.2608 0.2867 0.1521 0.23 0.18 0.24 0.25 0.31 rs2518493 COSM5008336 2(haematopoietic_and_lymphoid_tissue);5(large_intestine) Benign|Likely benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Recessive|Hereditary_pyropoikilocytosis|Elliptocytosis RCV000243041.1|RCV000266843.1|RCV000302197.1|RCV000361554.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|CN239472|C0520739:266140:9434008|HP:0004445:C0427480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2674 0.1733 0.3434 0.2217 0.4254 0.3377 0.2540 0.2716 0.1547 0.2532 0.1719 0.3549 0.2185 0.4460 0.3334 0.2554 0.2668 het 1255.40 125 1 158631171 . A C 1255.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.936;DP=125;Dels=0.00;FS=1.577;HRun=0;HaplotypeScore=1.8893;MQ=58.05;MQ0=0;MQRankSum=-0.581;QD=10.04;ReadPosRankSum=-0.387;VQSLOD=5.2262;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,46:125:99:1285,0,2195 1 158647495 158647495 A T exonic SPTA1 synonymous SNV SPTA1:NM_003126:exon7:c.T942A:p.A314A 0.96 0.84 0.99 1. 1. 1. 0.9850 0.8605 0.9925 1 0.9867 0.9962 0.9922 0.9994 0.96 0.88 1. 0.96 0.97 rs325996 . . Benign|Likely benign|Likely benign|Likely benign not_specified|Hereditary_pyropoikilocytosis|Elliptocytosis|Spherocytosis\x2c_Recessive RCV000245233.1|RCV000295281.1|RCV000352376.1|RCV000393758.1 MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen|MedGen CN169374|C0520739:266140:9434008|HP:0004445:C0427480|CN239472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9868 0.8581 0.9918 0.9989 1 0.9856 0.9964 0.9915 0.9994 0.9564 0.8613 0.9893 1 1 0.9874 0.9952 0.9857 hom 1218.20 35 1 158647495 . A T 1218.20 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=34.81;VQSLOD=9.2099;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:96.31:1251,96,0 1 158647522 158647522 A G exonic SPTA1 synonymous SNV SPTA1:NM_003126:exon7:c.T915C:p.S305S 0.45 0.23 0.51 0.58 0.62 0.43 0.5449 0.2744 0.5409 0.5476 0.6343 0.5990 0.5859 0.4510 0.48 0.28 0.57 0.45 0.61 rs703121 . . Benign|Likely benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Recessive|Hereditary_pyropoikilocytosis|Elliptocytosis RCV000253635.1|RCV000279926.1|RCV000337268.1|RCV000405166.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|CN239472|C0520739:266140:9434008|HP:0004445:C0427480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5500 0.2658 0.5448 0.5794 0.5499 0.6289 0.5960 0.5805 0.4592 0.5122 0.2803 0.5561 0.5497 0.5537 0.6304 0.6065 0.5890 het 622.51 53 1 158647522 . A G 622.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.405;DP=53;Dels=0.00;FS=4.031;HRun=1;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;MQRankSum=-0.134;QD=11.75;ReadPosRankSum=2.153;VQSLOD=5.2807;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,24:53:99:653,0,755 1 158655036 158655036 G A exonic SPTA1 synonymous SNV SPTA1:NM_003126:exon2:c.C126T:p.V42V 0.97 0.89 1. 1. 1. 1. 0.9920 0.9089 0.9954 1 1 0.9998 0.9978 0.9997 0.97 0.92 1. 0.97 0.99 rs435080 . . Benign|Likely benign|Likely benign|Likely benign not_specified|Hereditary_pyropoikilocytosis|Spherocytosis\x2c_Recessive|Elliptocytosis RCV000253444.1|RCV000295740.1|RCV000334391.1|RCV000391731.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen|Human_Phenotype_Ontology:MedGen CN169374|C0520739:266140:9434008|CN239472|HP:0004445:C0427480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9930 0.9052 0.9947 1 1 1 0.9997 0.9956 0.9996 0.9740 0.9094 0.9928 1 1 1 0.9999 0.9939 hom 2236.25 68 1 158655036 . G A 2236.25 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.07;MQ0=0;QD=32.89;VQSLOD=8.3479;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2269,181,0 1 158669662 158669662 G A exonic OR6K2 synonymous SNV OR6K2:NM_001005279:exon1:c.C781T:p.L261L 0.0042 0.0008 . . 0.019 0.001 0.0101 0.0024 0.0020 0 0.0262 0.0146 0.0077 0.0016 0.01 0.0025 0.014 . 0.016 rs41273535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0104 0.0029 0.0038 0.0004 0 0.0284 0.0148 0.0091 0.0016 0.0114 0.0031 0.0060 0 0 0.0275 0.0141 0.0143 het 1423.40 97 1 158669662 . G A 1423.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.006;DP=97;Dels=0.00;FS=8.470;HRun=1;HaplotypeScore=6.4102;MQ=59.02;MQ0=0;MQRankSum=1.461;QD=14.67;ReadPosRankSum=-0.470;VQSLOD=3.5965;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,52:97:99:1453,0,1234 1 158687163 158687163 G A exonic OR6K3 nonsynonymous SNV OR6K3:NM_001005327:exon1:c.C743T:p.P248L 0.39 0.48 0.43 0.45 0.4 0.17 0.3888 0.4784 0.4221 0.4282 0.4811 0.3981 0.4095 0.2133 0.41 0.48 0.38 0.37 0.41 rs28568406 COSM3750480 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B . . . 1 0.090 P -2.26 0.001 N 1.43 0.330 T 3.77 0.001 N 0.064 0.056 -0.941 0.425 T 0.004 0.012 T . . . 1.641 0.259 14.08 0.123 0.002 0.003 0.015 N c -1.558 -1.382 0.005 0.109 0.487 0.133 0 3.77 0.423 0.020 0.133 0.110 0.204 0.000 0.063 0.006 0.095 8.466 0.319 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3878 0.4753 0.4151 0.3519 0.4363 0.4746 0.3918 0.3992 0.2192 0.4348 0.4694 0.4117 0.37 0.4526 0.4886 0.4043 0.4124 het 1577.09 115 1 158687163 . G A 1577.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.789;DP=115;Dels=0.00;FS=12.561;HRun=0;HaplotypeScore=0.8941;MQ=59.07;MQ0=0;MQRankSum=0.960;QD=13.71;ReadPosRankSum=-0.809;VQSLOD=3.7289;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,55:115:99:1607,0,1691 1 158687224 158687224 G A exonic OR6K3 nonsynonymous SNV OR6K3:NM_001005327:exon1:c.C682T:p.P228S 0.28 0.09 0.39 0.45 0.39 0.17 0.3563 0.1266 0.4067 0.4274 0.4803 0.3971 0.3918 0.2122 0.29 0.13 0.38 0.26 0.39 rs857703 COSM146654 1(stomach);1(prostate);3(large_intestine) . . . . . . . . . . . 0.103 0.301 T 0.08 0.230 B 0.05 0.239 B . . . 1 0.090 P 1.025 0.256 L 1.23 0.369 T -3.22 0.692 D 0.038 0.022 -1.062 0.114 T 0.032 0.135 T . . . 0.953 0.185 10.39 0.952 0.257 0.036 0.087 N c -0.816 -0.871 0.007 0.113 0.487 0.133 0 0.813 0.178 0.796 0.265 0.882 0.386 0.001 0.137 0.005 0.090 7.996 0.293 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3623 0.1198 0.3988 0.3520 0.4360 0.4743 0.3906 0.3849 0.2182 0.3357 0.1246 0.3954 0.3667 0.4522 0.4888 0.4028 0.3951 het 1765.66 125 1 158687224 . G A 1765.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.577;DP=125;Dels=0.00;FS=3.325;HRun=2;HaplotypeScore=1.8633;MQ=59.63;MQ0=0;MQRankSum=-0.349;QD=14.13;ReadPosRankSum=1.413;VQSLOD=6.2600;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,67:125:99:1796,0,1712 1 158735595 158735595 C T exonic OR6N1 nonsynonymous SNV OR6N1:NM_001005185:exon1:c.G878A:p.R293H 0.67 0.78 0.78 0.62 0.72 0.43 0.6795 0.7778 0.7928 0.6194 0.7229 0.7031 0.6729 0.4570 0.74 0.78 0.72 0.61 0.72 rs857824 COSM1179737 1(prostate);1(large_intestine) . . . . . . . . . . . 0.016 0.518 D 0.217 0.285 B 0.041 0.226 B 0.006 0.323 N 0.627 0.307 P 3.84 0.958 H 1.01 0.411 T -4.62 0.791 D 0.112 0.147 -0.932 0.439 T 0.085 0.332 T . . . 4.694 0.629 24.6 0.996 0.748 0.233 0.218 N c -0.026 -0.018 0.005 0.110 0.487 0.133 0 4.01 0.457 1.416 0.341 0.927 0.437 0.002 0.151 0.885 0.372 8.738 0.335 . . . 0.6867 0.7787 0.7954 0.6586 0.6134 0.7312 0.7089 0.6893 0.4589 0.7175 0.7730 0.7912 0.6523 0.5957 0.7160 0.6987 0.6745 hom 7804.33 249 1 158735595 . C T 7804.33 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.6795;MQ=59.35;MQ0=0;QD=31.22;VQSLOD=5.1855;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7803,638,0 1 158735691 158735691 T C exonic OR6N1 nonsynonymous SNV OR6N1:NM_001005185:exon1:c.A782G:p.Q261R 0.67 0.78 0.78 0.62 0.72 0.43 0.6795 0.7779 0.7929 0.6201 0.7225 0.7032 0.6729 0.4565 0.74 0.78 0.72 0.61 0.7 rs857825 COSM1179738 1(pancreas);1(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.414 N 1 0.090 P -0.75 0.017 N 1.25 0.365 T 2.62 0.002 N 0.068 0.064 -0.987 0.334 T 0.009 0.034 T . . . -1.411 0.019 0.003 0.164 0.004 0.028 0.075 N c -1.108 -0.918 0.018 0.131 0.487 0.133 0 4.74 0.596 2.805 0.474 0.069 0.176 0.047 0.211 0.016 0.126 12.189 0.534 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.6866 0.7788 0.7958 0.6586 0.6135 0.7306 0.7089 0.6893 0.4583 0.7174 0.7739 0.7902 0.6567 0.5944 0.7153 0.6981 0.6755 hom 7812.94 246 1 158735691 . T C 7812.94 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2171;MQ=59.74;MQ0=0;QD=31.76;VQSLOD=6.7983;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7811,653,0 1 158735740 158735740 A G exonic OR6N1 nonsynonymous SNV OR6N1:NM_001005185:exon1:c.T733C:p.F245L 0.67 0.78 0.78 0.62 0.72 0.43 0.6796 0.7780 0.7928 0.6203 0.7225 0.7033 0.6729 0.4571 0.74 0.78 0.72 0.61 0.72 rs857826 COSM1127314 11(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.411 N 0.999 0.217 P -1.91 0.002 N 1.71 0.267 T 3.38 0.001 N 0.053 0.035 -0.948 0.414 T 0.004 0.014 T . . . 0.813 0.172 9.546 0.378 0.025 0.058 0.116 N c -0.878 -0.572 0.002 0.092 0.487 0.133 0 4.74 0.596 2.860 0.478 0.138 0.222 1.000 0.715 0.423 0.258 12.189 0.534 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.6867 0.7789 0.7957 0.6587 0.6136 0.7307 0.7090 0.6893 0.4589 0.7173 0.7733 0.7895 0.6567 0.5947 0.7155 0.6982 0.6765 hom 8389.18 241 1 158735740 . A G 8389.18 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.459;DP=241;DS;Dels=0.00;FS=3.835;HRun=1;HaplotypeScore=7.2016;MQ=59.64;MQ0=0;MQRankSum=1.675;QD=34.81;ReadPosRankSum=1.603;VQSLOD=4.2890;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,240:241:99:8355,626,0 1 158735892 158735892 A G exonic OR6N1 nonsynonymous SNV OR6N1:NM_001005185:exon1:c.T581C:p.I194T 0.67 0.78 0.78 0.62 0.72 0.43 0.6796 0.7776 0.7932 0.6193 0.7223 0.7032 0.6729 0.4572 0.74 0.78 0.72 0.61 0.61 rs857827 COSM1559899 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.623 0.053 T 0.001 0.067 B 0.002 0.063 B 0.146 0.181 N 1.000 0.198 P 0.42 0.125 N 8.6 0.002 T -1.7 0.404 N 0.094 0.101 -1.050 0.145 T 0.000 0.000 T . . . 0.446 0.137 7.002 0.741 0.102 0.199 0.206 N c -0.598 -0.499 0.000 0.058 0.487 0.133 0 3.65 0.408 0.664 0.246 1.199 0.960 0.000 0.063 0.012 0.117 4.054 0.092 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.6867 0.7786 0.7958 0.6587 0.6136 0.7307 0.7089 0.6894 0.4590 0.7173 0.7733 0.7912 0.6523 0.5943 0.7150 0.6984 0.6765 hom 8106.31 248 1 158735892 . A G 8106.31 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4613;MQ=59.42;MQ0=0;QD=32.69;VQSLOD=8.1037;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,247:248:99:8081,623,0 1 158736215 158736215 G A exonic OR6N1 synonymous SNV OR6N1:NM_001005185:exon1:c.C258T:p.L86L 0.81 0.73 0.93 0.91 0.95 0.6 0.8701 0.7437 0.9563 0.9184 0.9256 0.9203 0.8579 0.6396 0.86 0.74 0.93 0.8 0.89 rs6666753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8787 0.7403 0.9575 0.8676 0.9179 0.9232 0.9239 0.8962 0.6441 0.8692 0.7456 0.9388 0.8477 0.9306 0.9267 0.9166 0.8819 hom 4478.87 138 1 158736215 . G A 4478.87 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7480;MQ=58.51;MQ0=0;QD=32.46;VQSLOD=9.4688;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4478,361,0 1 158736445 158736445 C T exonic OR6N1 nonsynonymous SNV OR6N1:NM_001005185:exon1:c.G28A:p.A10T 0.25 0.018 0.33 0.42 0.33 0.22 0.3058 0.0590 0.3737 0.4379 0.3754 0.3237 0.3399 0.2325 0.23 0.064 0.32 0.15 0.27 rs1864346 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.044 0.236 N 1.000 0.090 P -1.55 0.005 N 6.26 0.006 T 2.17 0.003 N 0.037 0.022 -1.092 0.053 T 0.000 0.000 T . . . 0.377 0.130 6.412 0.230 0.010 0.006 0.028 N c -1.308 -1.079 0.000 0.035 0.487 0.133 0 2.52 0.294 -0.071 0.114 0.141 0.225 0.000 0.063 0.938 0.411 3.436 0.070 . . . 0.3061 0.0552 0.3652 0.3159 0.4211 0.3777 0.3155 0.2991 0.2156 0.2531 0.0568 0.3577 0.2967 0.4211 0.3728 0.3108 0.3122 het 764.92 64 1 158736445 . C T 764.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.472;DP=64;Dels=0.00;FS=2.392;HRun=1;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;MQRankSum=0.967;QD=11.95;ReadPosRankSum=-0.994;VQSLOD=6.4856;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,31:64:99:795,0,890 1 158813819 158813819 A G exonic MNDA synonymous SNV MNDA:NM_002432:exon4:c.A477G:p.P159P 0.53 0.31 0.54 0.7 0.58 0.59 0.5601 0.3666 0.4990 0.6692 0.6326 0.5771 0.5518 0.5702 0.5 0.37 0.57 0.48 0.51 rs857870 COSM3750482 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5624 0.3621 0.5080 0.5858 0.6704 0.6336 0.5719 0.5443 0.5703 0.5279 0.3693 0.5048 0.5993 0.6762 0.6442 0.5709 0.6186 het 2673.58 250 1 158813819 . A G 2673.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.853;DP=250;DS;Dels=0.00;FS=0.490;HRun=2;HaplotypeScore=1.9949;MQ=58.18;MQ0=0;MQRankSum=3.206;QD=10.69;ReadPosRankSum=-1.779;VQSLOD=3.1065;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:2704,0,3579 1 158985673 158985673 G A exonic IFI16 nonsynonymous SNV IFI16:NM_001206567:exon3:c.G277A:p.A93T,IFI16:NM_005531:exon3:c.G277A:p.A93T 0.0024 . 0.0058 . 0.005 0.0031 0.0054 0.0013 0.0030 0 0.0023 0.0077 0.0066 0.0049 0.0052 0.0018 0.0069 . 0.025 rs116270651 . . . . . . . . . . . . . 1.0 0.053 T 0.003 0.407 B 0.001 0.379 B . . . 1 0.090 N -0.695 0.019 N 2.03 0.210 T 1.4 0.034 N 0.04 0.176 -1.023 0.229 T 0.004 0.013 T 0.004 0.084 T 0.680 0.159 8.695 0.569 0.055 0.000 0.003 N c -1.583 -1.593 1.000 0.747 0.731 0.878 0 -0.242 0.123 -1.397 0.026 0.073 0.181 0.000 0.063 0.000 0.016 2.325 0.039 . . . 0.0053 0.0012 0.0039 0.0004 0 0.0021 0.0082 0.0058 0.0051 0.0044 0.0014 0.0012 0 0 0.0009 0.0077 0.0041 het 1752.14 168 1 158985673 . G A 1752.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.894;DP=168;Dels=0.00;FS=2.002;HRun=1;HaplotypeScore=5.2745;MQ=59.64;MQ0=0;MQRankSum=-0.760;QD=10.43;ReadPosRankSum=0.513;VQSLOD=4.1303;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,73:168:99:1782,0,2403 1 158986477 158986477 G C exonic IFI16 nonsynonymous SNV IFI16:NM_005531:exon4:c.G536C:p.S179T 0.64 0.41 0.84 0.59 0.79 0.68 0.7286 0.4465 0.8677 0.6444 0.7823 0.7685 0.7621 0.6683 0.67 0.46 0.78 0.63 0.73 rs866484 . . . . . . . . . . . . . 1.0 0.039 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -1.79 0.003 N 2.26 0.284 T 1.0 0.017 N 0.006 0.115 -0.919 0.458 T 0.003 0.011 T . . . -1.660 0.013 0.002 0.086 0.001 0.002 0.011 N c -1.674 -1.662 1.000 0.747 0.722 0.854 0 0.384 0.154 -1.708 0.020 -0.629 0.042 0.000 0.063 0.000 0.016 4.615 0.117 . . . 0.7434 0.4405 0.8660 0.7595 0.6375 0.7787 0.7756 0.7669 0.6685 0.6694 0.4500 0.8556 0.7583 0.6211 0.7756 0.7598 0.7418 het 2004.57 154 1 158986477 . G C 2004.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.062;DP=154;Dels=0.00;FS=2.909;HRun=0;HaplotypeScore=4.1590;MQ=59.24;MQ0=0;MQRankSum=1.094;QD=13.02;ReadPosRankSum=-0.658;VQSLOD=5.8186;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,85:154:99:2035,0,1748 1 159002377 159002377 C A exonic IFI16 nonsynonymous SNV IFI16:NM_001206567:exon6:c.C1057A:p.R353S,IFI16:NM_005531:exon7:c.C1225A:p.R409S 0.63 0.32 0.87 0.59 0.84 0.71 0.7674 0.4021 0.8913 0.6382 0.8596 0.8191 0.8172 0.7299 0.69 0.43 0.82 0.59 0.8 rs1057027 COSM3997001;COSM3997002 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.090 P -1.32 0.007 N 3.8 0.039 T 1.73 0.006 N 0.03 0.037 -0.924 0.451 T 0.006 0.020 T . . . 0.620 0.153 8.293 0.236 0.010 0.002 0.011 N c -1.112 -1.166 0.827 0.246 0.707 0.730 0 2.15 0.265 0.210 0.171 -0.257 0.089 0.001 0.137 0.001 0.043 5.220 0.146 HIN-200/IF120x|Nucleic acid-binding\x2c OB-fold ENSG00000163568.9 Whole_Blood 0.7815 0.3951 0.8902 0.8119 0.6302 0.8534 0.8208 0.8142 0.7292 0.6919 0.4139 0.8780 0.81 0.6152 0.8525 0.8045 0.7904 hom 2503.85 81 1 159002377 . C A 2503.85 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=56.19;MQ0=1;QD=30.91;VQSLOD=7.1470;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2537,205,0 1 159002389 159002389 T A exonic IFI16 nonsynonymous SNV IFI16:NM_001206567:exon6:c.T1069A:p.Y357N,IFI16:NM_005531:exon7:c.T1237A:p.Y413N 0.63 0.32 0.87 0.59 0.84 0.71 0.7674 0.4023 0.8912 0.6376 0.8594 0.8191 0.8172 0.7299 0.69 0.43 0.82 0.59 0.8 rs1057028 COSM3997004;COSM3997003 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.734 0.038 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.1 0.010 N 3.73 0.040 T 0.54 0.028 N 0.018 0.023 -0.927 0.446 T 0.001 0.003 T . . . -0.806 0.040 0.041 0.227 0.009 0.007 0.030 N c -1.874 -1.933 0.995 0.338 0.707 0.730 0 -4.3 0.034 -2.660 0.009 -1.901 0.006 0.000 0.063 0.000 0.016 0.105 0.000 HIN-200/IF120x|Nucleic acid-binding\x2c OB-fold ENSG00000163568.9 Whole_Blood 0.7815 0.3951 0.8902 0.8118 0.6301 0.8532 0.8208 0.8138 0.7292 0.6919 0.4143 0.8780 0.8054 0.6142 0.8525 0.8044 0.7900 hom 2846.07 93 1 159002389 . T A 2846.07 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5226;MQ=55.90;MQ0=1;QD=30.60;VQSLOD=4.3349;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2879,229,0 1 159169641 159169641 T C exonic CADM3 synonymous SNV CADM3:NM_001127173:exon8:c.T1053C:p.L351L,CADM3:NM_001346510:exon8:c.T915C:p.L305L,CADM3:NM_021189:exon9:c.T1155C:p.L385L 0.83 0.91 0.72 0.93 0.74 0.79 0.7743 0.8885 0.7773 0.9296 0.7612 0.7380 0.7721 0.7712 0.79 0.88 0.74 0.85 0.76 rs862999 COSM5447927 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7705 0.8906 0.7677 0.7615 0.9323 0.7486 0.7354 0.7607 0.7704 0.7941 0.8897 0.7524 0.7881 0.9307 0.7415 0.7397 0.7719 het 1266.13 103 1 159169641 . T C 1266.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.073;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.41;MQ0=0;MQRankSum=0.308;QD=12.29;ReadPosRankSum=-0.810;VQSLOD=6.9016;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,51:103:99:1296,0,1447 1 159175354 159175354 G A exonic ACKR1 nonsynonymous SNV ACKR1:NM_001122951:exon1:c.G131A:p.G44D,ACKR1:NM_002036:exon2:c.G125A:p.G42D 0.54 0.98 0.54 0.077 0.6 0.36 0.5235 0.9268 0.4208 0.0507 0.5059 0.5756 0.5431 0.3841 0.69 0.92 0.58 0.54 0.57 rs12075 COSM3735936;COSM3735937 1(skin) Benign DUFFY_BLOOD_GROUP_SYSTEM\x2c_FYA/FYB_POLYMORPHISM RCV000000005.2 . . Inflammatory biomarkers . . 22291609 rs12075 4E-51 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.355 0.007 N 4.47 0.223 T 1.46 0.011 N 0.027 0.352 -0.945 0.418 T 0.004 0.014 T . . . -1.377 0.020 0.004 0.480 0.039 0.007 0.030 N c -1.561 -1.534 1.000 0.747 0.657 0.484 0 -1.07 0.094 0.192 0.168 0.043 0.157 0.000 0.063 0.002 0.062 3.101 0.059 . . . 0.5122 0.9347 0.4338 0.5486 0.0494 0.5101 0.5794 0.5651 0.3837 0.6375 0.9228 0.4773 0.5331 0.0445 0.5192 0.5795 0.5532 het 1694.65 133 1 159175354 . G A 1694.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.276;DP=133;Dels=0.00;FS=2.293;HRun=0;HaplotypeScore=7.5647;MQ=58.84;MQ0=0;MQRankSum=0.579;QD=12.74;ReadPosRankSum=0.128;VQSLOD=4.9834;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,63:133:99:1725,0,1923 1 159409734 159409734 G T exonic OR10J1 nonsynonymous SNV OR10J1:NM_012351:exon1:c.G186T:p.M62I 0.99 0.96 1. 1. 1. 1. 0.9969 0.9656 0.9984 1 1 1.0000 0.9989 0.9999 0.99 0.97 1. 1. 1. rs10908722 . . . . . . . . . . . . . 0.368 0.116 T 0.0 0.026 B 0.0 0.013 B 0.194 0.033 N 1 0.090 P -0.255 0.038 N 4.11 0.029 T 0.44 0.033 N 0.03 0.011 -0.903 0.477 T 0.001 0.004 T . . . -2.464 0.004 0.001 0.642 0.072 0.017 0.053 N c -2.366 -2.398 0.906 0.262 0.487 0.133 0 -5.45 0.024 -6.364 0.001 -0.956 0.024 0.000 0.063 0.000 0.016 2.818 0.051 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9973 0.9627 0.9978 1 1 1 0.9999 0.9995 0.9999 0.9900 0.9649 0.9976 1 1 1 1 1 hom 6701.78 200 1 159409734 . G T 6701.78 Mask AC=2;AF=1.00;AN=2;DP=200;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9815;MQ=59.68;MQ0=0;QD=33.51;VQSLOD=9.8703;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6701,527,0 1 159409857 159409857 A G exonic OR10J1 nonsynonymous SNV OR10J1:NM_012351:exon1:c.A309G:p.I103M 0.48 0.43 0.51 0.24 0.65 0.6 0.5630 0.4820 0.39 0.2353 0.5562 0.6344 0.5749 0.6190 0.59 0.49 0.64 0.48 0.53 rs12048482 COSM146659;COSM146660 1(stomach);1(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.025 0.473 D 0.971 0.552 D 0.841 0.584 P 0.001 0.419 D 1 0.090 P 2.905 0.843 M 7.13 0.005 T -2.76 0.585 D 0.284 0.343 -0.903 0.477 T 0.001 0.004 T . . . 1.718 0.267 14.51 0.981 0.378 0.080 0.138 N c -0.524 -0.825 0.003 0.099 0.487 0.133 0 -1.89 0.072 -1.753 0.019 -0.779 0.033 0.000 0.063 0.000 0.016 3.694 0.078 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000228560.1 Cells_Transformed_fibroblasts 0.5571 0.4817 0.3972 0.6359 0.2335 0.5623 0.6396 0.6092 0.6121 0.5619 0.4906 0.4474 0.6026 0.2422 0.5656 0.6398 0.5998 het 2266.53 138 1 159409857 . A G 2266.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.253;DP=138;Dels=0.00;FS=17.896;HRun=0;HaplotypeScore=1.9983;MQ=59.16;MQ0=0;MQRankSum=0.715;QD=16.42;ReadPosRankSum=-0.551;VQSLOD=3.2064;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,74:138:99:2297,0,1784 1 159410340 159410340 T A exonic OR10J1 stopgain OR10J1:NM_012351:exon1:c.T792A:p.C264X 0.085 0.026 0.16 0.028 0.13 0.12 0.1235 0.0390 0.1566 0.0135 0.1793 0.1423 0.1388 0.1121 0.11 0.041 0.14 0.054 0.18 rs12409540 . . . . . . . . . . . . . . . . . . . . . . 0.000 0.449 D 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 5.424 0.736 26.0 0.957 0.271 0.076 0.135 N c -0.640 -0.991 0.034 0.141 0.487 0.133 0 -3.64 0.042 -7.736 0.000 -0.222 0.097 0.000 0.063 0.015 0.124 7.016 0.239 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1254 0.0376 0.1540 0.1006 0.0141 0.1756 0.1422 0.1234 0.1110 0.1123 0.0393 0.1527 0.1060 0.0136 0.1709 0.1480 0.1367 het 3035.95 250 1 159410340 . T A 3035.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.679;DP=250;DS;Dels=0.00;FS=3.023;HRun=0;HaplotypeScore=2.3204;MQ=59.16;MQ0=0;MQRankSum=0.365;QD=12.14;ReadPosRankSum=0.808;VQSLOD=5.7919;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:138,112:250:99:3066,0,3645 1 159505101 159505101 G A exonic OR10J5 nonsynonymous SNV OR10J5:NM_001004469:exon1:c.C697T:p.R233W 0.098 0.026 0.16 0.025 0.19 0.14 0.1618 0.0448 0.1453 0.0099 0.2568 0.1943 0.1861 0.1559 0.14 0.051 0.19 0.098 0.13 rs35393723 COSM3750495 1(stomach);1(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.053 0.388 T 0.145 0.261 B 0.045 0.231 B . . . 1 0.090 P 2.375 0.686 M 8.06 0.003 T -5.51 0.859 D 0.038 0.018 -1.027 0.213 T 0.000 0.001 T . . . -0.225 0.074 0.972 0.574 0.056 0.050 0.107 N c -1.721 -1.899 0.012 0.122 0.487 0.133 0 -7.29 0.013 -2.160 0.014 -0.283 0.084 0.000 0.063 0.189 0.215 5.142 0.142 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1615 0.0412 0.1476 0.1234 0.0112 0.2530 0.1921 0.1585 0.1565 0.1528 0.0433 0.1659 0.1225 0.0117 0.25 0.2064 0.1945 het 1427.32 106 1 159505101 . G A 1427.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.043;DP=106;Dels=0.00;FS=3.847;HRun=0;HaplotypeScore=4.4631;MQ=59.74;MQ0=0;MQRankSum=1.590;QD=13.47;ReadPosRankSum=-0.352;VQSLOD=4.7394;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,48:106:99:1457,0,1517 1 159505297 159505297 C T exonic OR10J5 synonymous SNV OR10J5:NM_001004469:exon1:c.G501A:p.P167P 0.55 0.29 0.66 0.49 0.69 0.74 0.6475 0.3657 0.6656 0.4722 0.5944 0.6972 0.6289 0.7253 0.6 0.38 0.71 0.51 0.69 rs4656837 COSM146661 1(stomach);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6538 0.3592 0.6645 0.7435 0.4674 0.5990 0.7029 0.6854 0.7211 0.5783 0.3753 0.6603 0.7417 0.4745 0.6048 0.6881 0.6633 het 1759.78 156 1 159505297 . C T 1759.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.643;DP=156;Dels=0.00;FS=7.348;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;MQRankSum=-1.006;QD=11.28;ReadPosRankSum=0.080;VQSLOD=4.8094;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,68:156:99:1790,0,2272 1 159558258 159558258 A G exonic APCS synonymous SNV APCS:NM_001639:exon2:c.A432G:p.V144V 0.9 0.98 0.91 0.99 0.84 0.75 0.8462 0.9661 0.9241 0.9880 0.9038 0.8163 0.8344 0.7404 0.87 0.96 0.82 0.91 0.85 rs2808661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8483 0.9680 0.9215 0.7680 0.9878 0.8928 0.8164 0.8407 0.7416 0.8880 0.9668 0.8986 0.7980 0.9827 0.8950 0.8334 0.8602 hom 1309.25 42 1 159558258 . A G 1309.25 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.99;MQ0=0;QD=31.17;VQSLOD=8.8977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1342,102,0 1 159799910 159799910 G A exonic SLAMF8 nonsynonymous SNV SLAMF8:NM_020125:exon2:c.G295A:p.G99S 0.031 0.003 0.039 . 0.11 0.017 0.0800 0.0180 0.0277 0.0012 0.1084 0.1200 0.0632 0.0254 0.088 0.02 0.12 0.022 0.11 rs34687326 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.998 0.875 D 0.000 0.843 D 0.010 0.810 P 1.975 0.537 M 0.65 0.527 T -4.66 0.794 D 0.307 0.367 -0.870 0.505 T 0.140 0.460 T . . . 6.681 0.915 32 0.999 0.941 0.777 0.379 D c 0.474 0.463 1.000 0.747 0.497 0.185 0 4.44 0.530 4.590 0.605 0.900 0.413 1.000 0.715 0.999 0.750 12.426 0.547 Immunoglobulin-like domain . . 0.0783 0.0177 0.0332 0.0944 0.0012 0.1107 0.1183 0.0846 0.0263 0.0804 0.0181 0.0453 0.0828 0.0012 0.1206 0.1175 0.0837 het 1247.02 114 1 159799910 . G A 1247.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.739;DP=114;Dels=0.00;FS=8.931;HRun=0;HaplotypeScore=5.2242;MQ=59.16;MQ0=0;MQRankSum=1.432;QD=10.94;ReadPosRankSum=-1.067;VQSLOD=4.0049;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,45:114:99:1277,0,1953 1 159850401 159850401 C G exonic CFAP45 synonymous SNV CFAP45:NM_012337:exon8:c.G987C:p.L329L 0.12 0.15 0.062 0.11 0.098 0.18 0.1151 0.1503 0.0363 0.1088 0.1391 0.1058 0.1211 0.1794 0.11 0.15 0.098 0.2 0.049 rs7550537 COSM3750498 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1100 0.1508 0.0375 0.0872 0.1074 0.1355 0.1044 0.1002 0.1808 0.1184 0.1457 0.0609 0.0662 0.1043 0.1509 0.1008 0.1191 hom 5655.17 182 1 159850401 . C G 5655.17 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.201;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6481;MQ=59.40;MQ0=0;MQRankSum=1.598;QD=31.07;ReadPosRankSum=0.163;VQSLOD=8.5034;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,181:182:99:5616,398,0 1 159898100 159898100 A G exonic IGSF9 synonymous SNV IGSF9:NM_001135050:exon19:c.T3078C:p.S1026S,IGSF9:NM_020789:exon19:c.T3030C:p.S1010S 0.5 0.36 0.54 0.65 0.45 0.56 0.4880 0.3966 0.5755 0.6926 0.4438 0.4501 0.4318 0.5322 0.39 0.36 0.41 0.48 0.3 rs3747615 COSM3750502;COSM3750501 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4735 0.3739 0.5499 0.3406 0.6824 0.4316 0.4361 0.4525 0.5230 0.4408 0.3889 0.5298 0.2881 0.6814 0.4480 0.4414 0.4436 het 788.52 52 1 159898100 . A G 788.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.024;DP=52;Dels=0.00;FS=5.356;HRun=0;HaplotypeScore=1.8455;MQ=60.00;MQ0=0;MQRankSum=0.801;QD=15.16;ReadPosRankSum=0.179;VQSLOD=4.9197;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,26:52:99:819,0,709 1 159923111 159923111 T G exonic SLAMF9 nonsynonymous SNV SLAMF9:NM_001146172:exon2:c.A379C:p.I127L,SLAMF9:NM_033438:exon2:c.A379C:p.I127L 0.89 0.75 0.94 1. 0.9 0.93 0.9030 0.7506 0.9629 0.9998 0.8774 0.9060 0.9104 0.9040 0.86 0.76 0.91 0.87 0.89 rs2789417 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.504 N 1 0.090 P -3.23 0.000 N 2.08 0.223 T 1.87 0.005 N 0.112 0.121 -0.970 0.373 T 0.003 0.008 T . . . -0.261 0.071 0.814 0.284 0.015 0.001 0.007 N c -1.111 -0.885 0.720 0.229 0.447 0.083 0 5.28 0.740 2.414 0.440 0.133 0.217 0.865 0.305 0.002 0.062 11.471 0.493 Immunoglobulin subtype . . 0.9092 0.7465 0.9580 0.9260 0.9997 0.8822 0.9079 0.9125 0.9040 0.8705 0.7623 0.9424 0.9305 1 0.8769 0.9109 0.8990 het 1736.75 128 1 159923111 . T G 1736.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.750;DP=128;Dels=0.00;FS=1.588;HRun=0;HaplotypeScore=3.1401;MQ=59.53;MQ0=0;MQRankSum=-1.649;QD=13.57;ReadPosRankSum=-1.444;VQSLOD=5.3038;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,65:128:99:1767,0,1658 1 160124875 160124875 G A exonic ATP1A4 nonsynonymous SNV ATP1A4:NM_144699:exon3:c.G248A:p.G83D 0.69 0.75 0.71 0.68 0.7 0.62 0.6977 0.7587 0.6682 0.6695 0.6489 0.7133 0.7170 0.6498 0.73 0.75 0.72 0.71 0.78 rs6427504 COSM5425491 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.181 0.171 N 0.998 0.221 P -3.14 0.000 N -1.09 0.772 T 4.57 0.000 N 0.045 0.025 -1.035 0.190 T 0.022 0.094 T . . . 0.185 0.112 4.517 0.706 0.091 0.072 0.131 N c -1.133 -0.856 1.000 0.747 0.487 0.133 0 4.48 0.538 6.303 0.726 0.168 0.246 1.000 0.715 0.105 0.191 8.284 0.309 Cation-transporting P-type ATPase\x2c N-terminal|P-type ATPase\x2c A domain ENSG00000132681.12|ENSG00000132681.12|ENSG00000132681.12|ENSG00000132681.12|ENSG00000132681.12|ENSG00000143318.8 Artery_Tibial|Colon_Sigmoid|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial 0.6966 0.7515 0.6825 0.7151 0.6688 0.6653 0.7142 0.7159 0.6496 0.7196 0.7569 0.7255 0.7318 0.6799 0.6573 0.7174 0.6990 het 2701.09 213 1 160124875 . G A 2701.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.155;DP=213;DS;Dels=0.00;FS=14.494;HRun=0;HaplotypeScore=7.4474;MQ=59.12;MQ0=0;MQRankSum=0.893;QD=12.68;ReadPosRankSum=0.699;VQSLOD=3.2904;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,107:213:99:2731,0,2735 1 160134205 160134205 C T exonic ATP1A4 synonymous SNV ATP1A4:NM_144699:exon7:c.C1038T:p.A346A 0.53 0.36 0.68 0.54 0.64 0.53 0.6055 0.3972 0.7271 0.5870 0.6479 0.6280 0.6134 0.5529 0.55 0.41 0.62 0.49 0.36 rs11265338 COSM5009637 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6158 0.3979 0.7263 0.6163 0.5823 0.6513 0.6272 0.6158 0.5548 0.5547 0.3947 0.7153 0.5563 0.5680 0.6407 0.6120 0.6324 hom 7082.48 223 1 160134205 . C T 7082.48 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.251;DP=223;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9973;MQ=59.12;MQ0=0;MQRankSum=1.266;QD=31.76;ReadPosRankSum=0.039;VQSLOD=8.2889;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,222:223:99:7043,539,0 1 160141196 160141196 C T exonic ATP1A4 synonymous SNV ATP1A4:NM_144699:exon11:c.C1647T:p.Y549Y 0.99 0.98 1. 1. 1. 1. 0.9978 0.9765 0.9984 1 1 0.9999 0.9978 1 0.99 0.98 1. 1. 1. rs625549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9763 0.9985 1 1 1 0.9999 0.9991 1.0000 0.9938 0.9786 0.9976 1 1 1 0.9999 0.9980 hom 3002.02 91 1 160141196 . C T 3002.02 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.72;MQ0=0;QD=32.99;VQSLOD=9.2136;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:3035,244,0 1 160793442 160793442 A G exonic LY9 synonymous SNV LY9:NM_001261457:exon7:c.A1416G:p.V472V,LY9:NM_001261456:exon8:c.A1644G:p.V548V,LY9:NM_002348:exon8:c.A1686G:p.V562V 0.63 0.69 0.66 0.7 0.45 0.65 0.5295 0.6520 0.7373 0.7304 0.4815 0.4365 0.4879 0.5988 0.49 0.64 0.42 0.65 0.43 rs474131 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5324 0.6556 0.7178 0.5174 0.7269 0.4713 0.4259 0.5091 0.5980 0.5249 0.6519 0.6567 0.4833 0.7119 0.4908 0.4336 0.5072 het 3050.22 204 1 160793442 . A G 3050.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.925;DP=204;Dels=0.00;FS=1.279;HRun=0;HaplotypeScore=8.7246;MQ=59.46;MQ0=0;MQRankSum=0.253;QD=14.95;ReadPosRankSum=-0.136;VQSLOD=4.5275;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:98,106:204:99:3080,0,2541 1 160793560 160793560 A G exonic LY9 nonsynonymous SNV LY9:NM_001261457:exon7:c.A1534G:p.M512V,LY9:NM_001261456:exon8:c.A1762G:p.M588V,LY9:NM_002348:exon8:c.A1804G:p.M602V 0.66 0.79 0.67 0.7 0.45 0.65 0.5388 0.7499 0.7411 0.7304 0.4814 0.4370 0.4945 0.6004 0.53 0.74 0.42 0.67 0.36 rs509749 COSM3927616 1(haematopoietic_and_lymphoid_tissue);3(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.030 0.017 N 1 0.090 P -0.805 0.016 N 1.57 0.293 T 0.5 0.030 N 0.005 0.002 -1.011 0.266 T 0.009 0.032 T . . . -2.938 0.001 0.001 0.169 0.005 0.001 0.008 N c -2.038 -1.956 0.169 0.177 0.693 0.558 0 2.28 0.275 -0.201 0.094 -1.075 0.019 0.000 0.063 0.000 0.016 8.371 0.314 . . . 0.5397 0.7557 0.7221 0.5170 0.7271 0.4716 0.4260 0.5110 0.5982 0.5532 0.7507 0.6587 0.4801 0.7129 0.4903 0.4338 0.5092 het 2455.60 183 1 160793560 . A G 2455.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.810;DP=183;DS;Dels=0.00;FS=1.411;HRun=0;HaplotypeScore=7.1298;MQ=58.60;MQ0=0;MQRankSum=0.450;QD=13.42;ReadPosRankSum=0.552;VQSLOD=5.0039;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,89:183:99:2486,0,2655 1 160851826 160851826 A T exonic ITLN1 nonsynonymous SNV ITLN1:NM_017625:exon4:c.T326A:p.V109D 0.58 0.33 0.7 0.69 0.68 0.63 0.6487 0.3742 0.7322 0.6884 0.6846 0.6725 0.6751 0.6305 0.58 0.38 0.68 0.51 0.64 rs2274907 COSM4142903 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.010 0.303 N 0.975 0.254 P -3.13 0.000 N 2.86 0.105 T 4.48 0.000 N 0.088 0.084 -0.950 0.411 T 0.001 0.004 T . . . 0.865 0.177 9.859 0.321 0.018 0.009 0.035 N c -1.100 -0.811 0.497 0.209 0.487 0.133 0 4.17 0.481 1.555 0.357 0.089 0.194 0.815 0.297 0.991 0.552 8.262 0.308 Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular domain|Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular\x2c subdomain 1 ENSG00000122223.8|ENSG00000122223.8|ENSG00000122223.8|ENSG00000179914.4 Artery_Coronary|Lung|Skin_Sun_Exposed_Lower_leg|Testis 0.6604 0.3661 0.7224 0.7340 0.6796 0.6845 0.6754 0.6724 0.6303 0.5949 0.3810 0.7189 0.7020 0.6708 0.6897 0.6757 0.6619 hom 5824.86 179 1 160851826 . A T 5824.86 Mask AC=2;AF=1.00;AN=2;DP=179;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=54.80;MQ0=0;QD=32.36;VQSLOD=7.7955;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5824,490,0 1 160851894 160851894 G A exonic ITLN1 synonymous SNV ITLN1:NM_017625:exon4:c.C258T:p.H86H 0.58 0.31 0.69 0.69 0.68 0.63 0.6475 0.3652 0.7315 0.6883 0.6848 0.6714 0.6729 0.6324 0.58 0.37 0.68 0.51 0.62 rs2274908 COSM4142904 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6587 0.3566 0.7210 0.7110 0.6794 0.6847 0.6756 0.6696 0.6302 0.5914 0.3700 0.7172 0.6733 0.6675 0.6899 0.6759 0.6609 hom 4550.71 140 1 160851894 . G A 4550.71 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=57.27;MQ0=0;QD=32.51;VQSLOD=7.3364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4550,373,0 1 160920966 160920966 C T exonic ITLN2 nonsynonymous SNV ITLN2:NM_080878:exon4:c.G308A:p.R103H 0.49 0.31 0.61 0.56 0.57 0.48 0.5356 0.3443 0.6322 0.5507 0.6236 0.5531 0.5806 0.4723 0.49 0.36 0.56 0.51 0.56 rs6680969 COSM3750521 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.5 0.077 T 0.003 0.131 B 0.004 0.093 B 0.009 0.012 N 1 0.090 P -1.32 0.007 N 1.55 0.299 T 1.59 0.007 N 0.024 0.007 -1.093 0.051 T 0.005 0.018 T . . . -1.146 0.027 0.008 0.792 0.122 0.001 0.007 N c -2.669 -2.722 1.000 0.747 0.653 0.482 0 -7.71 0.011 -4.648 0.002 -6.343 0.000 0.000 0.063 0.001 0.043 5.206 0.145 Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular domain|Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular\x2c subdomain 1 ENSG00000232188.1 Thyroid 0.5464 0.3338 0.6222 0.5763 0.5366 0.6306 0.5544 0.5755 0.4706 0.4999 0.3361 0.6220 0.5497 0.5193 0.6275 0.5509 0.5694 hom 5537.34 172 1 160920966 . C T 5537.34 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.367;DP=172;Dels=0.00;FS=4.692;HRun=0;HaplotypeScore=7.5180;MQ=57.10;MQ0=0;MQRankSum=0.962;QD=32.19;ReadPosRankSum=-1.570;VQSLOD=2.4790;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,171:172:99:5507,431,0 1 161017556 161017556 C T exonic ARHGAP30 synonymous SNV ARHGAP30:NM_001287602:exon8:c.G2724A:p.R908R,ARHGAP30:NM_001287600:exon11:c.G2811A:p.R937R,ARHGAP30:NM_001025598:exon12:c.G3255A:p.R1085R,ARHGAP30:NM_181720:exon13:c.G2622A:p.R874R 0.22 0.14 0.2 0.14 0.33 0.3 0.2772 0.1845 0.1537 0.1471 0.2598 0.3244 0.2604 0.3303 0.28 0.19 0.33 0.22 0.39 rs2774279 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2682 0.1815 0.1600 0.2615 0.1480 0.2573 0.3296 0.2729 0.2889 0.2628 0.1878 0.2064 0.2833 0.1640 0.2607 0.3178 0.3016 hom 4234.63 139 1 161017556 . C T 4234.63 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.358;DP=139;Dels=0.00;FS=3.075;HRun=0;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;MQRankSum=-1.358;QD=30.46;ReadPosRankSum=1.333;VQSLOD=4.0111;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,138:139:99:4196,308,0 1 161019040 161019040 G C exonic ARHGAP30 nonsynonymous SNV ARHGAP30:NM_001287602:exon8:c.C1240G:p.L414V,ARHGAP30:NM_001287600:exon11:c.C1327G:p.L443V,ARHGAP30:NM_001025598:exon12:c.C1771G:p.L591V,ARHGAP30:NM_181720:exon12:c.C1771G:p.L591V 0.4 0.18 0.47 0.33 0.63 0.46 0.5195 0.2509 0.4136 0.3314 0.6149 0.6080 0.5177 0.4651 0.49 0.26 0.61 0.35 0.48 rs3813609 . . . . . . . . . . . . . 0.194 0.231 T 0.361 0.417 B 0.081 0.389 B 0.937 0.076 N 1.000 0.090 P 0.55 0.145 N 2.92 0.354 T -0.05 0.096 N 0.049 0.064 -1.032 0.198 T 0.026 0.111 T . . . 0.085 0.102 3.451 0.967 0.302 0.673 0.331 D c -0.435 -0.408 1.000 0.747 0.672 0.522 0 1.1 0.195 1.465 0.347 -0.741 0.035 0.007 0.175 0.096 0.187 1.708 0.027 . ENSG00000215845.6|ENSG00000215845.6|ENSG00000215845.6|ENSG00000215845.6|ENSG00000158773.10|ENSG00000215845.6|ENSG00000186517.9|ENSG00000270149.1|ENSG00000158773.10 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Whole_Blood 0.5219 0.2434 0.4181 0.5739 0.3314 0.6156 0.6129 0.5524 0.4636 0.4890 0.2526 0.4558 0.5695 0.3398 0.6135 0.6065 0.6033 hom 6699.77 212 1 161019040 . G C 6699.77 Mask AC=2;AF=1.00;AN=2;DP=212;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5567;MQ=59.91;MQ0=0;QD=31.60;VQSLOD=8.8207;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6698,568,0 1 161068836 161068836 A C exonic KLHDC9 nonsynonymous SNV KLHDC9:NM_001007255:exon1:c.A511C:p.S171R,KLHDC9:NM_152366:exon1:c.A511C:p.S171R 0.24 0.067 0.3 0.37 0.34 0.19 0.3060 0.1231 0.3412 0.3870 0.3602 0.3262 0.2997 0.2304 0.22 0.093 0.28 0.26 0.31 rs11576830 COSM424364;COSM424365 1(oesophagus) . . . . . . . . . . . 0.523 0.197 T 0.0 0.026 B 0.001 0.040 B 0.798 0.067 N 1 0.090 P 0.6 0.156 N -0.8 0.739 T -0.93 0.249 N 0.055 0.040 -1.097 0.045 T 0.064 0.264 T . . . -1.805 0.011 0.002 0.560 0.053 0.100 0.154 N c -1.569 -1.633 1.000 0.747 0.767 0.994 0 -7.07 0.014 -1.376 0.026 -0.346 0.071 0.000 0.063 0.501 0.271 8.466 0.319 Galactose oxidase/kelch\x2c beta-propeller|Kelch-type beta propeller ENSG00000158850.10|ENSG00000158850.10 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg 0.2749 0.0877 0.3113 0.2760 0.3471 0.3100 0.2919 0.3005 0.2034 0.2425 0.0961 0.3361 0.2533 0.3346 0.3047 0.2929 0.3176 het 263.59 36 1 161068836 . A C 263.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.242;DP=36;Dels=0.00;FS=1.421;HRun=4;HaplotypeScore=1.9992;MQ=57.03;MQ0=1;MQRankSum=1.095;QD=7.32;ReadPosRankSum=-2.311;VQSLOD=2.9822;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,12:36:99:294,0,574 1 161130701 161130701 C T exonic USP21 nonsynonymous SNV USP21:NM_001319847:exon2:c.C358T:p.P120S,USP21:NM_001319848:exon2:c.C271T:p.P91S,USP21:NM_012475:exon2:c.C271T:p.P91S,USP21:NM_001014443:exon3:c.C271T:p.P91S 0.0096 0.0015 0.014 . 0.029 0.0072 0.0213 0.0050 0.0131 0 0.0103 0.0308 0.0188 0.0145 0.023 0.0075 0.03 0.033 0.0082 rs34779722 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.992 0.790 D . . . 0.974 0.391 D 0.695 0.181 N 0.84 0.475 T 0.52 0.029 N 0.197 0.319 -0.873 0.504 T 0.129 0.439 T . . . 3.691 0.501 23.3 0.999 0.982 0.924 0.553 D c 0.515 0.557 1.000 0.747 0.635 0.413 0 5.14 0.699 3.139 0.500 0.935 0.490 1.000 0.715 1.000 0.888 17.538 0.877 . . . 0.0208 0.0050 0.0148 0.0467 0 0.0092 0.0294 0.0254 0.0152 0.0170 0.0060 0.0227 0.0364 0.0012 0.0140 0.0249 0.0204 het 766.38 65 1 161130701 . C T 766.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.478;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5946;MQ=59.65;MQ0=0;MQRankSum=0.584;QD=11.79;ReadPosRankSum=0.400;VQSLOD=6.6266;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,33:65:99:796,0,987 1 161132821 161132821 C A exonic USP21 nonsynonymous SNV USP21:NM_001319847:exon6:c.C1093A:p.P365T,USP21:NM_001319848:exon6:c.C1006A:p.P336T,USP21:NM_012475:exon6:c.C1006A:p.P336T,USP21:NM_001014443:exon7:c.C1006A:p.P336T 0.016 0.0008 0.045 . 0.043 0.0072 0.0262 0.0074 0.0230 0 0.0370 0.0363 0.0254 0.0081 0.031 0.007 0.044 0.011 0.025 rs1127525 . . . . . . . . . . . . . 0.183 0.223 T 0.059 0.216 B 0.114 0.302 B 0.001 0.007 N 0.976 0.254 N 1.25 0.319 L 2.59 0.152 T -0.22 0.105 N 0.046 0.054 -0.969 0.374 T 0.012 0.048 T . . . 0.642 0.155 8.440 0.870 0.164 0.575 0.301 D c -0.751 -0.688 1.000 0.489 0.732 0.924 0 3.77 0.423 0.945 0.285 0.852 0.362 0.006 0.172 0.166 0.209 10.456 0.435 Peptidase C19\x2c ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain . . 0.0275 0.0071 0.0239 0.0339 0 0.0364 0.0383 0.0336 0.0080 0.0253 0.0073 0.0334 0.0298 0 0.0404 0.0338 0.0337 het 1374.95 133 1 161132821 . C A 1374.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.983;DP=133;Dels=0.00;FS=3.360;HRun=0;HaplotypeScore=7.8344;MQ=59.72;MQ0=0;MQRankSum=0.011;QD=10.34;ReadPosRankSum=-0.424;VQSLOD=4.3874;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,58:133:99:1405,0,1910 1 161160872 161160872 T C exonic ADAMTS4 synonymous SNV ADAMTS4:NM_001320336:exon9:c.A2409G:p.R803R 0.16 0.033 0.23 0.36 0.16 0.1 . . . . . . . . . . . 0.17 . rs34884997 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1251 0.0430 0.2601 0.17 0.3084 0.1234 0.1424 0.1660 het 334.53 27 1 161160872 . T C 334.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.432;DP=27;Dels=0.00;FS=3.565;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.364;QD=12.39;ReadPosRankSum=0.655;VQSLOD=6.0734;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,14:27:99:365,0,321 1 161163037 161163037 T C exonic ADAMTS4 nonsynonymous SNV ADAMTS4:NM_001320336:exon7:c.A1877G:p.Q626R,ADAMTS4:NM_005099:exon7:c.A1877G:p.Q626R 0.71 0.59 0.71 0.89 0.61 0.78 0.6623 0.6143 0.7983 0.9037 0.6049 0.5987 0.6409 0.7496 0.6 0.61 0.6 0.71 0.49 rs4233367 COSM1472886;COSM424371 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.040 0.241 N 1 0.090 P -1.12 0.009 N 3.89 0.036 T 1.62 0.006 N 0.033 0.013 -0.962 0.388 T 0.001 0.003 T . . . 0.233 0.116 5.021 0.698 0.088 0.154 0.187 N c -1.259 -1.036 1.000 0.413 0.644 0.439 0 1.94 0.249 0.140 0.158 -0.420 0.060 0.003 0.159 0.988 0.529 8.531 0.323 . ENSG00000158864.8 Skin_Sun_Exposed_Lower_leg 0.6648 0.6128 0.7761 0.6115 0.8967 0.6058 0.5965 0.6573 0.7462 0.6168 0.6092 0.7751 0.6060 0.8911 0.6078 0.5849 0.6170 hom 1245.61 39 1 161163037 . T C 1245.61 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.94;VQSLOD=13.9731;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1279,102,0 1 161163108 161163108 C T exonic ADAMTS4 synonymous SNV ADAMTS4:NM_001320336:exon7:c.G1806A:p.G602G,ADAMTS4:NM_005099:exon7:c.G1806A:p.G602G 0.0002 . . . 0.001 . 0.0007 0 0 0 0.0074 0.0006 0 0 0.0001 . 0.0001 . . rs199819346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0 0 0.0005 0 0.0065 0.0003 0.0015 0 0.0010 0 0 0 0 0.0069 0.0003 0.0041 het 559.95 53 1 161163108 . C T 559.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.111;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=-0.743;QD=10.57;ReadPosRankSum=-1.184;VQSLOD=4.4903;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,24:53:99:590,0,759 1 161183516 161183516 C T exonic NDUFS2 synonymous SNV NDUFS2:NM_001166159:exon12:c.C1290T:p.A430A,NDUFS2:NM_004550:exon13:c.C1290T:p.A430A 0.16 0.035 0.23 0.36 0.14 0.09 0.1523 0.0483 0.2680 0.3334 0.1122 0.1408 0.1366 0.1057 0.11 0.051 0.13 0.16 0.16 rs1136207 COSM4414973 1(haematopoietic_and_lymphoid_tissue) Likely benign|Likely benign not_specified|Mitochondrial_complex_I_deficiency RCV000117712.2|RCV000367763.1 MedGen|MedGen:OMIM CN169374|C1838979:252010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1569 0.0448 0.2552 0.1842 0.3335 0.1091 0.1362 0.1772 0.1038 0.1202 0.0442 0.2554 0.1689 0.3116 0.1105 0.1360 0.1439 het 2485.49 166 1 161183516 . C T 2485.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.037;DP=166;DS;Dels=0.00;FS=1.331;HRun=0;HaplotypeScore=3.6506;MQ=59.36;MQ0=0;MQRankSum=-1.476;QD=14.97;ReadPosRankSum=0.910;VQSLOD=5.4565;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,94:166:99:2515,0,1943 1 161202605 161202605 G A exonic NR1I3 synonymous SNV NR1I3:NM_001077470:exon4:c.C453T:p.P151P,NR1I3:NM_001077472:exon4:c.C453T:p.P151P,NR1I3:NM_001077473:exon4:c.C453T:p.P151P,NR1I3:NM_001077475:exon4:c.C453T:p.P151P,NR1I3:NM_001077476:exon4:c.C453T:p.P151P,NR1I3:NM_001077477:exon4:c.C453T:p.P151P,NR1I3:NM_001077479:exon4:c.C453T:p.P151P,NR1I3:NM_001077469:exon5:c.C540T:p.P180P,NR1I3:NM_001077471:exon5:c.C540T:p.P180P,NR1I3:NM_001077474:exon5:c.C540T:p.P180P,NR1I3:NM_001077478:exon5:c.C540T:p.P180P,NR1I3:NM_001077480:exon5:c.C540T:p.P180P,NR1I3:NM_001077481:exon5:c.C540T:p.P180P,NR1I3:NM_001077482:exon5:c.C540T:p.P180P,NR1I3:NM_005122:exon5:c.C540T:p.P180P 0.34 0.11 0.33 0.52 0.35 0.45 0.3534 0.1414 0.3950 0.5363 0.3177 0.3481 0.3381 0.3990 0.27 0.14 0.33 0.33 0.33 rs2307424 COSM4142915;COSM4142917;COSM4142916 1(thyroid) Benign not_specified RCV000178902.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3546 0.1396 0.3855 0.3276 0.5277 0.3144 0.3469 0.3609 0.3951 0.2919 0.1463 0.3938 0.3113 0.5309 0.3080 0.3386 0.3289 het 1772.56 155 1 161202605 . G A 1772.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.456;DP=155;Dels=0.00;FS=0.610;HRun=0;HaplotypeScore=3.8483;MQ=59.34;MQ0=0;MQRankSum=0.992;QD=11.44;ReadPosRankSum=0.304;VQSLOD=6.3143;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,69:155:99:1803,0,2172 1 161479745 161479745 A G exonic FCGR2A nonsynonymous SNV FCGR2A:NM_001136219:exon4:c.A500G:p.H167R,FCGR2A:NM_021642:exon4:c.A497G:p.H166R 0.44 0.53 0.45 0.28 0.51 0.42 0.4791 0.5458 0.5211 0.3274 0.5091 0.4942 0.4537 0.4153 0.53 0.56 0.52 0.43 0.53 rs1801274 COSM3997022 2(haematopoietic_and_lymphoid_tissue) other|other|other|drug response|Benign Lupus_nephritis\x2c_susceptibility_to|Pseudomonas_aeruginosa\x2c_susceptibility_to_chronic_infection_by\x2c_in_cystic_fibrosis|Malaria\x2c_severe\x2c_susceptibility_to|trastuzumab_response_-_Efficacy|not_specified RCV000015946.3|RCV000015947.3|RCV000054529.2|RCV000211160.1|RCV000454909.1 MedGen|MedGen|MedGen C1970029|CN236585|CN169374 Ulcerative colitis 0.83 . 21297633 rs1801274 2E-20 0.173 0.230 T 0.0 0.026 B 0.002 0.063 B 0.000 0.002 N 1 0.090 P 1.665 0.427 L 2.78 0.113 T -3.15 0.642 D 0.061 0.045 -0.958 0.396 T 0.008 0.026 T . . . -1.872 0.010 0.002 0.228 0.009 0.009 0.035 N c -1.409 -1.545 1.000 0.489 0.554 0.283 0 -4.15 0.036 -0.458 0.068 -4.176 0.000 0.000 0.063 0.000 0.016 4.498 0.112 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.4752 0.5457 0.5166 0.4051 0.3256 0.4899 0.4957 0.4768 0.4162 0.5068 0.5474 0.5012 0.4272 0.3502 0.5132 0.5018 0.4878 het 891.17 86 1 161479745 . A G 891.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.425;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9981;MQ=59.08;MQ0=0;MQRankSum=0.375;QD=10.36;ReadPosRankSum=0.802;VQSLOD=6.6085;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,37:86:99:921,0,1473 1 161683136 161683136 G A exonic FCRLA nonsynonymous SNV FCRLA:NM_001184871:exon2:c.G392A:p.R131Q,FCRLA:NM_001184872:exon3:c.G677A:p.R226Q,FCRLA:NM_001184873:exon3:c.G545A:p.R182Q,FCRLA:NM_001184867:exon4:c.G830A:p.R277Q,FCRLA:NM_001184870:exon4:c.G695A:p.R232Q,FCRLA:NM_032738:exon5:c.G1097A:p.R366Q,FCRLA:NM_001184866:exon6:c.G1115A:p.R372Q 0.3 0.047 0.34 0.24 0.51 0.44 0.4183 0.1130 0.3009 0.2600 0.5064 0.4900 0.4626 0.4482 0.36 0.12 0.48 0.27 0.45 rs11746 COSM3735938;COSM146669;COSM3735939 1(stomach);2(skin);1(thyroid);3(large_intestine) . . . . . . . . . . . 0.375 0.114 T 0.003 0.251 B 0.001 0.158 B 0.838 0.091 N 1 0.090 P 1.245 0.315 L 0.91 0.449 T -0.16 0.326 N 0.019 0.054 -1.012 0.263 T 0.018 0.076 T . . . 0.645 0.156 8.465 0.787 0.120 0.030 0.077 N c -1.467 -1.488 0.997 0.352 0.672 0.522 0 -3.37 0.046 -0.766 0.048 -2.213 0.004 0.000 0.063 0.000 0.016 7.078 0.242 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000162746.10|ENSG00000162746.10|ENSG00000162746.10|ENSG00000162746.10|ENSG00000132185.12|ENSG00000162746.10 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts 0.4207 0.1039 0.3101 0.5340 0.2570 0.5053 0.4865 0.4664 0.4465 0.3687 0.1108 0.3413 0.5331 0.2509 0.5057 0.4920 0.4559 hom 3155.06 103 1 161683136 . G A 3155.06 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.426;DP=103;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;MQRankSum=-0.713;QD=30.63;ReadPosRankSum=-1.087;VQSLOD=4.0887;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,102:103:99:3188,213,0 1 161695639 161695639 G T exonic FCRLB synonymous SNV FCRLB:NM_001288830:exon3:c.G315T:p.A105A,FCRLB:NM_001288832:exon3:c.G315T:p.A105A,FCRLB:NM_001288829:exon4:c.G336T:p.A112A,FCRLB:NM_001288831:exon4:c.G336T:p.A112A,FCRLB:NM_001320241:exon5:c.G336T:p.A112A,FCRLB:NM_001002901:exon6:c.G336T:p.A112A 0.93 0.99 0.94 1. 0.88 0.81 0.8849 0.9739 0.9199 0.9979 0.8480 0.8712 0.8877 0.8144 0.9 0.97 0.87 0.95 0.86 rs7520519 COSM4142926 1(skin);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8860 0.9765 0.9222 0.9275 0.9987 0.8535 0.8692 0.8841 0.8096 0.8904 0.9722 0.9153 0.9338 0.9994 0.8453 0.8425 0.8391 hom 3339.99 102 1 161695639 . G T 3339.99 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7609;MQ=59.41;MQ0=0;QD=32.74;VQSLOD=9.2766;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3339,268,0 1 161696782 161696782 G C exonic FCRLB nonsynonymous SNV FCRLB:NM_001288830:exon4:c.G698C:p.R233P,FCRLB:NM_001288832:exon4:c.G739C:p.G247R,FCRLB:NM_001288829:exon5:c.G719C:p.R240P,FCRLB:NM_001288831:exon5:c.G760C:p.G254R 0.31 0.055 0.38 0.26 0.53 0.46 0.4900 0.1681 0.3753 0.3420 0.5905 0.5536 0.5319 0.5169 0.37 0.13 0.49 0.23 0.29 rs11585450 COSM3750534 1(thyroid);3(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.337 0.316 B 0.086 0.280 B . . . 1 0.486 P . . . 4.35 0.024 T -1.08 0.299 N . . -1.036 0.186 T 0.002 0.007 T . . . 0.248 0.118 5.179 0.982 0.390 0.007 0.029 N c -0.849 -1.152 1.000 0.747 0.437 0.062 0 -6.55 0.017 -2.478 0.011 -0.252 0.090 0.000 0.063 0.530 0.276 14.880 0.700 . ENSG00000162746.10|ENSG00000162746.10|ENSG00000162746.10|ENSG00000162746.10|ENSG00000162746.10 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts 0.4336 0.1110 0.3467 0.5566 0.2891 0.5205 0.5095 0.4734 0.4555 0.3832 0.1203 0.3648 0.5503 0.2681 0.5141 0.5093 0.4765 hom 532.28 21 1 161696782 . G C 532.28 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.35;VQSLOD=12.6072;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:48.13:565,48,0 1 161751741 161751741 A G exonic ATF6 nonsynonymous SNV ATF6:NM_007348:exon3:c.A199G:p.M67V 0.17 0.011 0.17 0.26 0.27 0.17 0.2360 0.0466 0.1566 0.2926 0.2971 0.2825 0.2467 0.1676 0.21 0.057 0.29 0.18 0.21 rs1058405 COSM3750535 1(haematopoietic_and_lymphoid_tissue);7(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.372 0.115 T 0.049 0.208 B 0.039 0.223 B 0.000 0.843 D 0.035 0.384 P 2.175 0.612 M 2.55 0.138 T -1.02 0.268 N 0.322 0.383 -1.043 0.165 T 0.014 0.058 T . . . 1.346 0.226 12.51 0.922 0.210 0.709 0.345 D c -0.120 0.024 1.000 0.423 0.732 0.924 0 3.83 0.431 2.557 0.453 1.199 0.960 1.000 0.715 1.000 0.888 8.448 0.318 . ENSG00000162746.10 Cells_Transformed_fibroblasts 0.2343 0.0413 0.1546 0.2144 0.2843 0.2918 0.2847 0.2620 0.1642 0.2119 0.0511 0.1826 0.2053 0.2621 0.3032 0.2805 0.2172 het 582.93 48 1 161751741 . A G 582.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.838;DP=48;Dels=0.00;FS=1.097;HRun=1;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;MQRankSum=1.707;QD=12.14;ReadPosRankSum=-0.983;VQSLOD=6.1213;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,22:48:99:613,0,527 1 161928327 161928327 A G exonic ATF6 synonymous SNV ATF6:NM_007348:exon16:c.A1896G:p.S632S 0.56 0.42 0.49 0.51 0.78 0.63 0.6540 0.4482 0.3791 0.5405 0.8006 0.7443 0.7097 0.6090 0.65 0.46 0.75 0.53 0.7 rs9482 COSM1335717 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6511 0.4412 0.4016 0.7232 0.5382 0.8018 0.7457 0.6893 0.6083 0.6511 0.4447 0.4507 0.7152 0.5267 0.8025 0.7553 0.7025 hom 6467.43 207 1 161928327 . A G 6467.43 Mask AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.0922;MQ=59.37;MQ0=0;QD=31.24;VQSLOD=8.4317;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,206:207:99:6466,538,0 1 161967681 161967681 A G exonic OLFML2B nonsynonymous SNV OLFML2B:NM_001297713:exon6:c.T1411C:p.W471R,OLFML2B:NM_001347700:exon6:c.T1414C:p.W472R,OLFML2B:NM_015441:exon6:c.T1408C:p.W470R 0.63 0.58 0.68 0.66 0.67 0.61 0.6577 0.6036 0.6784 0.6543 0.6124 0.6806 0.6542 0.6044 0.65 0.6 0.68 0.53 0.66 rs2499836 COSM5425402 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.341 0.171 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N -2.06 0.859 D 1.22 0.011 N 0.11 0.118 -1.082 0.069 T 0.130 0.440 T . . . 0.375 0.130 6.397 0.381 0.025 0.002 0.013 N c -1.227 -1.194 0.996 0.343 0.615 0.372 0 2.8 0.317 0.461 0.215 0.138 0.222 0.003 0.159 0.005 0.090 4.305 0.103 . . . 0.6620 0.6003 0.6749 0.8006 0.6546 0.6158 0.6787 0.6823 0.6078 0.6416 0.6034 0.6818 0.8179 0.6191 0.6094 0.6660 0.6711 het 3194.09 243 1 161967681 . A G 3194.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.199;DP=243;DS;Dels=0.00;FS=0.543;HRun=0;HaplotypeScore=8.9779;MQ=59.57;MQ0=0;MQRankSum=-0.640;QD=13.14;ReadPosRankSum=0.368;VQSLOD=4.3393;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,121:243:99:3224,0,3067 1 161976234 161976234 A G exonic OLFML2B synonymous SNV OLFML2B:NM_001297713:exon4:c.T576C:p.N192N,OLFML2B:NM_001347700:exon4:c.T576C:p.N192N,OLFML2B:NM_015441:exon4:c.T576C:p.N192N 0.59 0.44 0.79 0.46 0.82 0.55 0.7328 0.5014 0.8019 0.4770 0.8242 0.8194 0.7361 0.5751 0.72 0.51 0.82 0.6 0.84 rs12022536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7421 0.4995 0.8057 0.7683 0.4772 0.8170 0.8214 0.7676 0.5740 0.7161 0.5087 0.7950 0.7533 0.4677 0.8262 0.8282 0.7727 hom 3199.83 108 1 161976234 . A G 3199.83 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7605;MQ=58.32;MQ0=0;QD=29.63;VQSLOD=7.5799;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3233,262,0 1 162344102 162344102 C T exonic SPATA46 synonymous SNV SPATA46:NM_182581:exon3:c.G522A:p.R174R 0.34 0.16 0.42 0.51 0.38 0.31 0.3674 0.1986 0.4268 0.5026 0.4365 0.3730 0.3833 0.3107 0.32 0.22 0.38 0.22 0.34 rs2282397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3746 0.1947 0.4315 0.3151 0.5052 0.4319 0.3745 0.3739 0.3067 0.3390 0.1973 0.4117 0.2980 0.4988 0.4361 0.3760 0.3755 het 4137.27 249 1 162344102 . C T 4137.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.805;DP=249;DS;Dels=0.00;FS=5.141;HRun=0;HaplotypeScore=9.7939;MQ=59.18;MQ0=0;MQRankSum=1.133;QD=16.62;ReadPosRankSum=-0.110;VQSLOD=3.9347;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,129:249:99:3477,0,3417 1 162344390 162344390 A G exonic SPATA46 synonymous SNV SPATA46:NM_182581:exon3:c.T234C:p.D78D 1. 0.99 1. 1. 1. 1. 0.9989 0.9880 0.9997 1 1 1.0000 1 1 1. 0.99 1. 0.98 1. rs164159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9872 0.9996 1 1 1.0000 0.9999 0.9996 1 0.9961 0.9867 1 1 1 1 0.9999 0.9969 hom 4790.93 144 1 162344390 . A G 4790.93 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5116;MQ=59.39;MQ0=0;QD=33.27;VQSLOD=8.8249;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4790,394,0 1 162345091 162345091 G A exonic SPATA46 nonsynonymous SNV SPATA46:NM_182581:exon2:c.C206T:p.A69V 0.94 0.79 0.98 1. 1. 0.99 0.9788 0.8164 0.9915 1 0.9986 0.9937 0.9791 0.9932 0.94 0.82 1. 0.9 0.99 rs164181 . . . . . . . . . . . . . 0.926 0.023 T 0.0 0.026 B 0.0 0.013 B 0.431 0.047 N 1 0.090 P -1.195 0.008 N 1.6 0.286 T 0.07 0.061 N 0.024 0.007 -0.954 0.402 T 0.005 0.015 T . . . -0.774 0.041 0.049 0.355 0.022 0.000 0.004 N c -1.920 -1.784 1.000 0.480 0.554 0.283 0 1.25 0.204 -0.090 0.110 -1.337 0.013 0.000 0.063 0.000 0.016 7.416 0.261 . . . 0.9820 0.8130 0.9894 0.9627 0.9999 0.9983 0.9957 0.9852 0.9921 0.9461 0.8205 0.9857 0.9636 1 0.9977 0.9963 0.9796 hom 6447.09 214 1 162345091 . G A 6447.09 Mask AC=2;AF=1.00;AN=2;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1526;MQ=59.11;MQ0=0;QD=30.13;VQSLOD=8.8818;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:6446,508,0 1 162367103 162367103 G T exonic SH2D1B nonsynonymous SNV SH2D1B:NM_053282:exon4:c.C366A:p.N122K 0.11 0.032 0.17 0.14 0.12 0.15 0.1071 0.0387 0.1590 0.1326 0.0594 0.1087 0.0892 0.1140 0.088 0.039 0.11 0.043 0.12 rs34001279 COSM4415928 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.043 0.413 D 0.987 0.600 D 0.832 0.579 P . . . 1.000 0.344 P 1.845 0.488 L -1.53 0.816 D -2.38 0.524 N 0.127 0.144 0.167 0.854 D 0.604 0.859 D . . . 1.660 0.261 14.18 0.984 0.405 0.816 0.406 D c -0.059 -0.086 1.000 0.747 0.549 0.223 0 3.47 0.387 1.413 0.341 1.048 0.713 0.929 0.320 0.099 0.189 8.159 0.302 . ENSG00000152332.11 Esophagus_Mucosa 0.1117 0.0348 0.1581 0.0862 0.1367 0.0623 0.1161 0.1088 0.1135 0.0885 0.0434 0.1551 0.0795 0.1522 0.0695 0.1086 0.0891 het 1591.20 130 1 162367103 . G T 1591.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.083;DP=130;Dels=0.00;FS=1.423;HRun=2;HaplotypeScore=3.6924;MQ=58.15;MQ0=0;MQRankSum=1.404;QD=12.24;ReadPosRankSum=-0.069;VQSLOD=5.2025;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,63:130:99:1621,0,1834 1 162737116 162737116 C G exonic DDR2 synonymous SNV DDR2:NM_006182:exon11:c.C1260G:p.L420L,DDR2:NM_001014796:exon12:c.C1260G:p.L420L 0.35 0.5 0.35 0.41 0.15 0.28 0.2242 0.4707 0.4188 0.4040 0.0683 0.1341 0.1817 0.2673 0.26 0.47 0.15 0.37 0.14 rs2298258 COSM3997043;COSM3997044;COSM3997042 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Spondyloepimetaphyseal_dysplasia RCV000254549.1|RCV000266095.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0002651:C0432211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2255 0.4781 0.4063 0.1018 0.3983 0.0753 0.1405 0.1942 0.2677 0.2473 0.4814 0.3890 0.1391 0.3938 0.0808 0.1358 0.1386 het 1740.03 130 1 162737116 . C G 1740.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.996;DP=130;DS;Dels=0.00;FS=1.014;HRun=0;HaplotypeScore=1.7333;MQ=59.47;MQ0=0;MQRankSum=0.245;QD=13.38;ReadPosRankSum=0.451;VQSLOD=6.5775;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,60:130:99:1770,0,2143 1 163309219 163309219 A T exonic NUF2 synonymous SNV NUF2:NM_031423:exon8:c.A558T:p.G186G,NUF2:NM_145697:exon8:c.A558T:p.G186G 0.43 0.32 0.44 0.35 0.44 0.64 0.4412 0.3389 0.3935 0.3127 0.3764 0.4532 0.4460 0.5838 0.42 0.34 0.45 0.39 0.35 rs1509022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4365 0.3403 0.3821 0.5151 0.3125 0.3772 0.4513 0.4617 0.5726 0.3911 0.3363 0.4175 0.5733 0.3203 0.3828 0.4280 0.3840 het 830.18 73 1 163309219 . A T 830.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.561;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=57.92;MQ0=0;MQRankSum=1.154;QD=11.37;ReadPosRankSum=0.966;VQSLOD=5.8505;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,38:73:99:860,0,841 1 165173216 165173216 A G exonic LMX1A synonymous SNV LMX1A:NM_001174069:exon9:c.T1050C:p.D350D,LMX1A:NM_177398:exon9:c.T1050C:p.D350D 1. 1. 1. 1. 1. 1. 0.9997 0.9963 0.9997 1 1 1 1 1 1. 1. 1. 1. 0.98 rs1354509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9958 0.9997 1 1 1 1 0.9998 1.0000 0.9992 0.9973 1 1 1 1 1 1 hom 6464.47 206 1 165173216 . A G 6464.47 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.5461;MQ=58.67;MQ0=0;QD=31.38;VQSLOD=4.6159;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,205:206:99:6464,494,0 1 165218792 165218792 G A exonic LMX1A synonymous SNV LMX1A:NM_001174069:exon4:c.C349T:p.L117L,LMX1A:NM_177398:exon4:c.C349T:p.L117L 0.32 0.13 0.35 0.56 0.24 0.42 0.3039 0.1491 0.4013 0.5618 0.3096 0.2535 0.2753 0.4012 0.22 0.16 0.24 0.2 0.2 rs10753668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3088 0.1478 0.3967 0.1892 0.5588 0.3114 0.2517 0.2664 0.4042 0.2505 0.1571 0.3541 0.1689 0.5644 0.3044 0.2526 0.2776 hom 3047.15 90 1 165218792 . G A 3047.15 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6927;MQ=59.74;MQ0=0;QD=33.86;VQSLOD=9.5204;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3080,244,0 1 165377552 165377552 G A exonic RXRG synonymous SNV RXRG:NM_001256571:exon7:c.C681T:p.V227V,RXRG:NM_006917:exon8:c.C1050T:p.V350V,RXRG:NM_001256570:exon9:c.C681T:p.V227V 0.48 0.23 0.6 0.51 0.67 0.5 0.6105 0.2962 0.6059 0.5311 0.6583 0.6868 0.6200 0.5250 0.55 0.31 0.68 0.48 0.69 rs2134095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6152 0.2839 0.6081 0.7626 0.5340 0.6460 0.6784 0.6447 0.5288 0.5564 0.3030 0.6184 0.7417 0.5490 0.6537 0.6694 0.6354 het 1310.58 126 1 165377552 . G A 1310.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.738;DP=126;Dels=0.00;FS=2.973;HRun=1;HaplotypeScore=7.5765;MQ=59.52;MQ0=0;MQRankSum=1.260;QD=10.40;ReadPosRankSum=0.121;VQSLOD=4.5005;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,54:126:99:1341,0,1999 1 165398115 165398115 T C exonic RXRG synonymous SNV RXRG:NM_006917:exon2:c.A138G:p.T46T 0.25 0.42 0.29 0.25 0.15 0.1 0.1730 0.3591 0.2334 0.2335 0.1343 0.1461 0.1737 0.1054 0.22 0.35 0.15 0.28 0.16 rs113471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1701 0.3643 0.2311 0.1264 0.2290 0.1340 0.1448 0.1818 0.1038 0.2076 0.3510 0.2482 0.1192 0.2108 0.1246 0.1454 0.1684 het 571.58 43 1 165398115 . T C 571.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.023;DP=43;Dels=0.00;FS=4.751;HRun=1;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=1.235;QD=13.29;ReadPosRankSum=-0.893;VQSLOD=5.0741;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,24:43:99:602,0,568 1 165652273 165652273 A G exonic ALDH9A1 synonymous SNV ALDH9A1:NM_000696:exon3:c.T402C:p.I134I 0.75 0.61 0.77 0.99 0.64 0.78 0.7172 0.6184 0.8455 0.9810 0.7026 0.6720 0.6898 0.7410 0.65 0.63 0.66 0.69 0.6 rs1143659 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7214 0.6154 0.8382 0.7138 0.9809 0.6902 0.6642 0.7011 0.7369 0.6783 0.6225 0.8031 0.7185 0.9833 0.6864 0.6677 0.6831 het 1682.14 147 1 165652273 . A G 1682.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.981;DP=147;Dels=0.00;FS=1.487;HRun=0;HaplotypeScore=6.7687;MQ=59.02;MQ0=0;MQRankSum=0.905;QD=11.44;ReadPosRankSum=1.207;VQSLOD=4.8568;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,72:147:99:1712,0,2036 1 165865478 165865478 G A exonic UCK2 synonymous SNV UCK2:NM_012474:exon4:c.G408A:p.G136G 0.087 0.035 0.084 0.082 0.15 0.098 0.1351 0.0432 0.1205 0.0782 0.1787 0.1591 0.1167 0.1196 0.12 0.047 0.15 0.087 0.09 rs11553301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1372 0.0443 0.1321 0.1506 0.0779 0.1786 0.1561 0.1526 0.1161 0.1201 0.0472 0.1241 0.1523 0.0777 0.1830 0.1504 0.1395 het 4274.74 250 1 165865478 . G A 4274.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.595;DP=250;DS;Dels=0.00;FS=3.530;HRun=1;HaplotypeScore=1.6988;MQ=59.50;MQ0=0;MQRankSum=0.498;QD=17.10;ReadPosRankSum=-0.054;VQSLOD=5.9649;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:126,124:250:99:3585,0,3563 1 166818566 166818566 A G exonic POGK synonymous SNV POGK:NM_001314014:exon3:c.A396G:p.A132A,POGK:NM_017542:exon5:c.A750G:p.A250A 0.28 0.15 0.17 0.56 0.16 0.35 0.2239 0.1757 0.1666 0.5722 0.1651 0.1824 0.1914 0.3031 0.18 0.17 0.19 0.23 0.19 rs2075946 COSM4880456 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2200 0.1778 0.1599 0.1637 0.5783 0.1676 0.1823 0.1846 0.3043 0.1913 0.1693 0.1706 0.1689 0.5713 0.1624 0.1729 0.1694 het 558.18 58 1 166818566 . A G 558.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.064;DP=58;Dels=0.00;FS=2.369;HRun=0;HaplotypeScore=0.7887;MQ=58.95;MQ0=0;MQRankSum=-0.715;QD=9.62;ReadPosRankSum=0.381;VQSLOD=6.1840;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,23:58:99:588,0,865 1 166958601 166958601 T C exonic MAEL synonymous SNV MAEL:NM_001286377:exon1:c.T12C:p.R4R,MAEL:NM_032858:exon1:c.T12C:p.R4R 0.3 0.56 0.17 0.25 0.22 0.18 0.2841 0.5443 0.1975 0.2691 0.2667 0.2759 0.2147 0.2116 0.34 0.52 0.25 0.38 0.22 rs2296837 COSM3750550 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2291 0.5256 0.1517 0.1721 0.2244 0.1958 0.2386 0.2027 0.1892 0.3085 0.5245 0.1938 0.1854 0.2441 0.1979 0.2302 0.2219 het 278.92 27 1 166958601 . T C 278.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.528;DP=27;Dels=0.00;FS=2.481;HRun=0;HaplotypeScore=1.9978;MQ=59.14;MQ0=0;MQRankSum=-0.321;QD=10.33;ReadPosRankSum=-1.604;VQSLOD=5.7635;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,11:27:99:309,0,449 1 166958607 166958607 C G exonic MAEL synonymous SNV MAEL:NM_001286377:exon1:c.C18G:p.A6A,MAEL:NM_032858:exon1:c.C18G:p.A6A 0.0092 0.0008 0.023 . 0.027 0.002 0.0182 0.0056 0.0157 0 0.0221 0.0269 0.0278 0.0007 0.018 0.0061 0.024 0.011 0.0082 rs113297248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0155 0.0041 0.0132 0.0276 0 0.0160 0.0228 0.0199 0.0008 0.0140 0.0046 0.0119 0.0232 0 0.0155 0.0203 0.0193 het 362.93 28 1 166958607 . C G 362.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.420;DP=28;Dels=0.00;FS=1.974;HRun=0;HaplotypeScore=0.9995;MQ=59.17;MQ0=0;MQRankSum=0.077;QD=12.96;ReadPosRankSum=2.340;VQSLOD=5.1840;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,16:28:99:393,0,316 1 167095163 167095163 G C exonic DUSP27 nonsynonymous SNV DUSP27:NM_001080426:exon6:c.G795C:p.E265D 0.64 0.89 0.46 0.87 0.48 0.37 0.5010 0.8417 0.3569 0.8803 0.4290 0.4664 0.4724 0.3590 0.6 0.83 0.48 0.7 0.52 rs267745 COSM4142988 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.004 0.346 N 1 0.090 P 0.195 0.092 N -1.99 0.853 D -0.02 0.073 N 0.054 0.036 -0.983 0.343 T 0.076 0.306 T . . . -0.734 0.043 0.060 0.638 0.071 0.026 0.071 N c -1.466 -1.364 0.927 0.268 0.497 0.185 0 -4.59 0.031 -2.166 0.013 -0.333 0.074 0.000 0.063 0.994 0.587 2.803 0.051 Dual specificity phosphatase\x2c catalytic domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase-like . . 0.4945 0.8509 0.3746 0.5569 0.8803 0.4366 0.4659 0.4867 0.3592 0.5735 0.8413 0.4185 0.5642 0.8679 0.4318 0.4357 0.4510 het 1278.95 107 1 167095163 . G C 1278.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.498;DP=107;Dels=0.00;FS=0.727;HRun=0;HaplotypeScore=1.8640;MQ=59.57;MQ0=0;MQRankSum=-0.415;QD=11.95;ReadPosRankSum=-2.242;VQSLOD=5.5272;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,56:107:99:1309,0,1384 1 167097070 167097070 G A exonic DUSP27 nonsynonymous SNV DUSP27:NM_001080426:exon6:c.G2702A:p.R901H 0.0058 0.0008 0.0058 . 0.018 0.0061 0.0143 0.0026 0.0035 0 0.0212 0.0212 0.0110 0.0066 0.015 0.0039 0.02 0.011 0.025 rs61748781 . . . . . . . . . . . . . 0.055 0.384 T 0.004 0.112 B 0.003 0.080 B 0.026 0.016 N 0.531 0.315 N 1.555 0.395 L 3.86 0.037 T -0.59 0.176 N 0.037 0.017 -1.012 0.263 T 0.006 0.021 T . . . 2.187 0.324 17.42 0.955 0.266 0.604 0.309 D c -0.418 -0.304 0.411 0.202 0.554 0.283 0 2.11 0.262 0.878 0.276 1.038 0.658 0.894 0.310 0.998 0.697 7.531 0.267 . . . 0.0140 0.0028 0.0042 0.0118 0.0001 0.0212 0.0217 0.0111 0.0060 0.0154 0.0034 0.0012 0.0066 0 0.0275 0.0216 0.0245 het 1013.13 82 1 167097070 . G A 1013.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.539;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8824;MQ=59.77;MQ0=0;MQRankSum=0.901;QD=12.36;ReadPosRankSum=0.121;VQSLOD=5.8203;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,39:82:99:1043,0,1021 1 167097567 167097567 G A exonic DUSP27 nonsynonymous SNV DUSP27:NM_001080426:exon6:c.G3199A:p.D1067N 0.053 0.0061 0.097 0.001 0.14 0.044 0.1010 0.0210 0.0689 0.0003 0.1163 0.1396 0.1336 0.0620 0.1 0.025 0.14 0.033 0.13 rs61748784 COSM3750554 1(large_intestine) . . . . . . . . . . . 0.143 0.253 T 0.001 0.067 B 0.002 0.063 B 0.002 0.381 N 1 0.090 P 1.7 0.440 L 3.94 0.034 T -0.26 0.112 N 0.006 0.000 -1.019 0.241 T 0.006 0.021 T . . . 0.430 0.135 6.873 0.975 0.336 0.188 0.202 N c -0.407 -0.362 0.909 0.263 0.554 0.283 0 4.38 0.519 1.263 0.324 1.038 0.658 0.822 0.298 0.875 0.366 8.777 0.337 . . . 0.1045 0.0203 0.0770 0.2113 0.0003 0.1185 0.1382 0.1323 0.0629 0.0903 0.0233 0.0811 0.22 0.0012 0.1173 0.1286 0.1191 het 646.50 53 1 167097567 . G A 646.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.521;DP=53;Dels=0.00;FS=1.054;HRun=1;HaplotypeScore=0.9933;MQ=59.56;MQ0=0;MQRankSum=0.489;QD=12.20;ReadPosRankSum=-0.845;VQSLOD=6.4695;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,27:53:99:676,0,747 1 167097739 167097739 C A exonic DUSP27 nonsynonymous SNV DUSP27:NM_001080426:exon6:c.C3371A:p.T1124N 0.38 0.28 0.29 0.74 0.31 0.29 0.3279 0.2750 0.2610 0.7481 0.2887 0.3094 0.3207 0.2790 0.3 0.28 0.31 0.37 0.33 rs2281959 COSM3750555 2(large_intestine) . . . . . . . . . . . 0.042 0.416 D 0.001 0.067 B 0.002 0.063 B 0.062 0.221 N 1 0.090 P 0.55 0.145 N 3.88 0.036 T -0.57 0.172 N 0.021 0.005 -0.988 0.331 T 0.005 0.016 T . . . -0.231 0.074 0.943 0.911 0.198 0.059 0.117 N c -0.845 -0.862 0.654 0.222 0.554 0.283 0 0.916 0.184 0.050 0.139 0.038 0.153 0.001 0.137 0.978 0.483 4.673 0.120 . . . 0.3284 0.2808 0.2678 0.4451 0.7419 0.2944 0.3000 0.3292 0.2770 0.3096 0.2814 0.2763 0.4503 0.7263 0.2930 0.2851 0.2967 het 323.51 40 1 167097739 . C A 323.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.432;DP=40;Dels=0.00;FS=3.009;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.043;QD=8.09;ReadPosRankSum=1.063;VQSLOD=5.7405;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,14:40:99:354,0,745 1 167817639 167817639 A G exonic ADCY10 synonymous SNV ADCY10:NM_001167749:exon16:c.T1938C:p.G646G,ADCY10:NM_001297772:exon19:c.T2121C:p.G707G,ADCY10:NM_018417:exon19:c.T2397C:p.G799G 0.82 0.93 0.84 0.86 0.71 0.74 0.7555 0.9053 0.8717 0.8630 0.7590 0.7117 0.7334 0.7003 0.77 0.9 0.71 0.81 0.74 rs203795 COSM424500 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7593 0.9046 0.8636 0.7243 0.8633 0.7640 0.7119 0.7412 0.6976 0.7843 0.9052 0.8321 0.6954 0.8527 0.7661 0.7133 0.7305 het 1719.31 126 1 167817639 . A G 1719.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.159;DP=126;Dels=0.00;FS=0.697;HRun=0;HaplotypeScore=0.9665;MQ=58.90;MQ0=0;MQRankSum=0.901;QD=13.65;ReadPosRankSum=-1.043;VQSLOD=6.3529;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,70:126:99:1749,0,1410 1 167839578 167839578 G A exonic ADCY10 synonymous SNV ADCY10:NM_001167749:exon11:c.C1074T:p.V358V,ADCY10:NM_001297772:exon14:c.C1257T:p.V419V,ADCY10:NM_018417:exon14:c.C1533T:p.V511V 0.13 0.036 0.22 0.13 0.21 0.099 0.1856 0.0682 0.3031 0.1325 0.1876 0.2071 0.1905 0.1176 0.16 0.073 0.21 0.15 0.17 rs67878347 COSM1559273 1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1929 0.0648 0.2885 0.2477 0.1325 0.1861 0.2072 0.2115 0.1185 0.1613 0.0723 0.2578 0.23 0.1256 0.1872 0.2032 0.1742 het 1118.30 83 1 167839578 . G A 1118.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.880;DP=83;Dels=0.00;FS=6.125;HRun=2;HaplotypeScore=2.9899;MQ=57.96;MQ0=1;MQRankSum=0.589;QD=13.47;ReadPosRankSum=0.589;VQSLOD=4.6159;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,42:83:99:1148,0,1081 1 167849414 167849414 A G exonic ADCY10 synonymous SNV ADCY10:NM_001167749:exon8:c.T696C:p.G232G,ADCY10:NM_001297772:exon11:c.T879C:p.G293G,ADCY10:NM_018417:exon11:c.T1155C:p.G385G 0.49 0.67 0.46 0.32 0.5 0.44 0.4775 0.6376 0.4781 0.3295 0.4422 0.4766 0.5298 0.4695 0.53 0.64 0.48 0.55 0.49 rs203849 COSM146675 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4733 0.6346 0.4769 0.5210 0.3265 0.4526 0.4754 0.4919 0.4612 0.5049 0.6381 0.4749 0.5267 0.3226 0.4472 0.4644 0.4642 hom 1697.60 56 1 167849414 . A G 1697.60 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.31;VQSLOD=14.0925;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1731,135,0 1 167865871 167865871 G A exonic ADCY10 nonsynonymous SNV ADCY10:NM_001167749:exon4:c.C242T:p.T81M,ADCY10:NM_001297772:exon7:c.C425T:p.T142M,ADCY10:NM_018417:exon7:c.C701T:p.T234M 0.076 0.17 0.073 . 0.09 0.018 0.0719 0.1561 0.0487 0 0.0805 0.0827 0.0859 0.0254 0.1 0.15 0.08 0.098 0.041 rs16859886 COSM3750559 2(soft_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.410 N 1.000 0.186 P -1.905 0.002 N 1.58 0.304 T 1.35 0.009 N 0.185 0.226 -1.010 0.268 T 0.011 0.039 T . . . 0.958 0.186 10.42 0.053 0.000 0.035 0.086 N c -0.717 -0.496 0.868 0.253 0.487 0.133 0 5.32 0.753 1.515 0.352 0.168 0.246 0.958 0.332 0.964 0.448 8.373 0.314 Adenylyl cyclase class-3/4/guanylyl cyclase|Nucleotide cyclase ENSG00000143158.6|ENSG00000143158.6|ENSG00000143158.6|ENSG00000143158.6|ENSG00000143158.6 Artery_Tibial|Colon_Transverse|Esophagus_Muscularis|Lung|Thyroid 0.0699 0.1587 0.0563 0.1020 0 0.0780 0.0797 0.0851 0.0256 0.0900 0.1519 0.0622 0.1126 0 0.0765 0.0693 0.0703 het 1880.35 184 1 167865871 . G A 1880.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.504;DP=184;DS;Dels=0.00;FS=0.591;HRun=0;HaplotypeScore=1.8808;MQ=59.06;MQ0=0;MQRankSum=0.025;QD=10.22;ReadPosRankSum=-0.566;VQSLOD=6.6516;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:109,75:184:99:1910,0,2882 1 167906239 167906239 A C exonic DCAF6 synonymous SNV DCAF6:NM_001017977:exon1:c.A90C:p.R30R,DCAF6:NM_001198956:exon1:c.A90C:p.R30R,DCAF6:NM_001198957:exon1:c.A90C:p.R30R,DCAF6:NM_001349773:exon1:c.A90C:p.R30R,DCAF6:NM_018442:exon1:c.A90C:p.R30R 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.52 0.74 rs203788 COSM4142997;COSM4142998 2(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 311.10 12 1 167906239 . A C 311.10 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.93;VQSLOD=13.0889;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:27.08:344,27,0 1 167973976 167973976 C T exonic DCAF6 synonymous SNV DCAF6:NM_001198957:exon9:c.C1230T:p.D410D,DCAF6:NM_001349777:exon9:c.C882T:p.D294D,DCAF6:NM_001349780:exon9:c.C882T:p.D294D,DCAF6:NM_001017977:exon10:c.C1323T:p.D441D,DCAF6:NM_001198956:exon10:c.C1323T:p.D441D,DCAF6:NM_001349773:exon10:c.C1323T:p.D441D,DCAF6:NM_001349774:exon10:c.C882T:p.D294D,DCAF6:NM_001349775:exon10:c.C882T:p.D294D,DCAF6:NM_001349776:exon10:c.C882T:p.D294D,DCAF6:NM_001349778:exon10:c.C882T:p.D294D,DCAF6:NM_001349779:exon10:c.C882T:p.D294D,DCAF6:NM_018442:exon10:c.C1323T:p.D441D 0.17 0.04 0.39 0.13 0.23 0.16 0.2318 0.0788 0.5040 0.1360 0.2090 0.2352 0.2252 0.1842 0.19 0.09 0.24 0.18 0.22 rs1060041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2460 0.0745 0.4855 0.2435 0.1386 0.2049 0.2392 0.2543 0.1840 0.1875 0.0808 0.4426 0.23 0.1315 0.2015 0.2366 0.2006 het 824.28 89 1 167973976 . C T 824.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.207;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.94;MQ0=0;MQRankSum=0.395;QD=9.26;ReadPosRankSum=0.537;VQSLOD=6.9525;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,37:89:99:854,0,1292 1 168059866 168059866 A C exonic GPR161 synonymous SNV GPR161:NM_001267613:exon3:c.T906G:p.G302G,GPR161:NM_001267614:exon3:c.T798G:p.G266G,GPR161:NM_001349635:exon3:c.T744G:p.G248G,GPR161:NM_001267611:exon4:c.T1191G:p.G397G,GPR161:NM_001267612:exon4:c.T744G:p.G248G,GPR161:NM_001349633:exon4:c.T1140G:p.G380G,GPR161:NM_001267609:exon5:c.T1200G:p.G400G,GPR161:NM_001267610:exon5:c.T1140G:p.G380G,GPR161:NM_001349632:exon6:c.T1140G:p.G380G,GPR161:NM_001349634:exon6:c.T1140G:p.G380G,GPR161:NM_153832:exon6:c.T1140G:p.G380G 0.12 0.16 0.15 0.14 0.12 0.021 0.0187 0.0227 0.0169 0.0231 0.0404 0.0198 0.0245 0.0036 . . . . . rs275149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0082 0.0132 0.0049 0.0041 0.0102 0.0111 0.0100 0.0055 0.0022 . . . . . . . . hom 470.74 39 1 168059866 . A C 470.74 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=54.56;MQ0=0;QD=12.07;VQSLOD=5.5914;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:39:51.05:504,51,0 1 169498975 169498975 T C exonic F5 nonsynonymous SNV F5:NM_000130:exon16:c.A5290G:p.M1764V 0.31 0.17 0.49 0.28 0.31 0.39 0.3351 0.1905 0.5327 0.2606 0.2965 0.3211 0.3469 0.3980 0.29 0.2 0.34 0.35 0.3 rs6030 COSM4143006 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Likely benign not_specified|Thrombophilia_due_to_activated_protein_C_resistance RCV000252958.1|RCV000398818.1 MedGen|MedGen:OMIM CN169374|C1861171:188055 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.800 0.093 N 1 0.090 P -1.195 0.008 N -5.02 0.986 D 0.77 0.020 N 0.037 0.017 -0.434 0.710 T 0.433 0.774 T . . . -1.273 0.023 0.005 0.699 0.088 0.032 0.082 N c -1.469 -1.393 1.000 0.747 0.487 0.133 0 -2.86 0.053 -2.274 0.012 -0.702 0.037 0.000 0.063 0.943 0.417 3.252 0.064 . . . 0.3425 0.1909 0.5102 0.2436 0.2552 0.2949 0.3269 0.3447 0.4057 0.2899 0.1914 0.4761 0.2450 0.2381 0.2955 0.3393 0.3306 het 1837.15 152 1 169498975 . T C 1837.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.074;DP=152;Dels=0.00;FS=6.030;HRun=0;HaplotypeScore=0.9979;MQ=58.98;MQ0=0;MQRankSum=-0.214;QD=12.09;ReadPosRankSum=-0.059;VQSLOD=5.5622;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,73:152:99:1867,0,1944 1 169510380 169510380 G A exonic F5 synonymous SNV F5:NM_000130:exon13:c.C3948T:p.L1316L 0.26 0.17 0.39 0.25 0.25 0.32 0.2730 0.1786 0.4422 0.2166 0.2146 0.2589 0.2775 0.3233 0.24 0.19 0.27 0.25 0.25 rs9287090 COSM3997060 1(haematopoietic_and_lymphoid_tissue);1(kidney) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|Budd-Chiari_syndrome|Thrombophilia RCV000243702.1|RCV000285218.1|RCV000335313.1|RCV000342412.1|RCV000400552.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|C0015499:227400:ORPHA326:4320005|C1861171:188055|C0856761:600880:ORPHA131:82385007|C0398623:188050:234467004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2073 0.1352 0.3088 0.0902 0.1746 0.1655 0.2123 0.1916 0.2345 0.2066 0.1555 0.3702 0.1725 0.1928 0.1901 0.2327 0.2248 het 4302.32 250 1 169510380 . G A 4302.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.760;DP=250;DS;Dels=0.00;FS=0.998;HRun=1;HaplotypeScore=6.7487;MQ=57.64;MQ0=3;MQRankSum=-0.498;QD=17.21;ReadPosRankSum=1.832;VQSLOD=2.5273;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,125:250:99:3639,0,3044 1 169511555 169511555 T C exonic F5 nonsynonymous SNV F5:NM_000130:exon13:c.A2773G:p.K925E 0.26 0.17 0.39 0.25 0.25 0.32 0.2737 0.1780 0.4431 0.2184 0.2154 0.2596 0.2775 0.3242 0.24 0.18 0.27 0.33 0.25 rs6032 COSM3997061 2(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Budd-Chiari_syndrome|Factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|Thrombophilia RCV000252227.1|RCV000265062.1|RCV000288681.1|RCV000323785.1|RCV000378358.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:SNOMED_CT CN169374|C0856761:600880:ORPHA131:82385007|C0015499:227400:ORPHA326:4320005|C1861171:188055|C0398623:188050:234467004 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.884 0.087 N 1 0.090 P -0.505 0.026 N 2.24 0.179 T 0.42 0.034 N 0.03 0.011 -0.903 0.477 T 0.006 0.022 T . . . -2.194 0.006 0.001 0.241 0.010 0.001 0.005 N c -1.838 -1.850 0.005 0.107 0.487 0.133 0 -5.14 0.026 -0.376 0.075 -1.806 0.007 0.000 0.063 0.004 0.083 17.350 0.872 . . . 0.2780 0.1779 0.4161 0.1755 0.2189 0.2140 0.2670 0.2771 0.3292 0.2334 0.1766 0.3995 0.1887 0.2186 0.2152 0.2634 0.2429 het 1586.93 122 1 169511555 . T C 1586.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.237;DP=122;Dels=0.00;FS=1.485;HRun=2;HaplotypeScore=7.2124;MQ=58.45;MQ0=0;MQRankSum=0.190;QD=13.01;ReadPosRankSum=0.564;VQSLOD=4.1871;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,57:122:99:1617,0,1750 1 169511734 169511734 T C exonic F5 nonsynonymous SNV F5:NM_000130:exon13:c.A2594G:p.H865R 0.26 0.17 0.39 0.25 0.25 0.32 0.2738 0.1781 0.4427 0.2184 0.2153 0.2598 0.2797 0.3244 0.24 0.18 0.27 0.34 0.25 rs4525 COSM3747584 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Budd-Chiari_syndrome|Thrombophilia_due_to_activated_protein_C_resistance|Thrombophilia|Factor_V_deficiency RCV000247612.1|RCV000290751.1|RCV000296476.1|RCV000350367.1|RCV000396448.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0856761:600880:ORPHA131:82385007|C1861171:188055|C0398623:188050:234467004|C0015499:227400:ORPHA326:4320005 . . . . . . 0.449 0.090 T 0.0 0.026 B 0.0 0.013 B 0.465 0.049 N 1 0.090 P 2.175 0.612 M 2.12 0.197 T -2.45 0.535 N 0.02 0.004 -0.971 0.370 T 0.014 0.055 T . . . -1.377 0.020 0.004 0.344 0.021 0.062 0.121 N c -1.208 -1.244 0.000 0.052 0.487 0.133 0 -1.12 0.093 -0.391 0.073 -1.580 0.009 0.000 0.063 0.000 0.016 5.176 0.144 . . . 0.2780 0.1779 0.4161 0.1758 0.2189 0.2137 0.2669 0.2781 0.3292 0.2336 0.1770 0.3971 0.1887 0.2196 0.2149 0.2636 0.2439 het 3178.54 249 1 169511734 . T C 3178.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.739;DP=249;DS;Dels=0.00;FS=3.526;HRun=0;HaplotypeScore=10.4928;MQ=57.72;MQ0=0;MQRankSum=0.437;QD=12.77;ReadPosRankSum=-0.580;VQSLOD=3.4914;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,127:249:99:3209,0,3126 1 169511755 169511755 T C exonic F5 nonsynonymous SNV F5:NM_000130:exon13:c.A2573G:p.K858R 0.27 0.17 0.39 0.25 0.25 0.34 0.2768 0.1782 0.4435 0.2189 0.2153 0.2598 0.2797 0.3462 0.24 0.18 0.27 0.34 0.25 rs4524 COSM3750564 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign not_specified|Thrombophilia_due_to_activated_protein_C_resistance RCV000242831.1|RCV000351409.1 MedGen|MedGen:OMIM CN169374|C1861171:188055 . . . . . . 0.855 0.027 T 0.0 0.026 B 0.0 0.013 B 0.635 0.106 N 1 0.090 P -1.355 0.007 N 2.17 0.190 T 0.21 0.048 N 0.022 0.005 -0.910 0.469 T 0.005 0.016 T . . . -2.579 0.003 0.001 0.123 0.002 0.005 0.023 N c -1.699 -1.643 0.000 0.054 0.487 0.133 0 -1.7 0.077 -0.613 0.057 -0.476 0.054 0.000 0.063 0.000 0.016 5.162 0.143 . . . 0.2807 0.1779 0.4162 0.1756 0.2190 0.2136 0.2668 0.2789 0.3514 0.2339 0.1765 0.3974 0.1887 0.2211 0.2149 0.2638 0.2490 het 3175.57 238 1 169511755 . T C 3175.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.042;DP=238;DS;Dels=0.00;FS=3.604;HRun=0;HaplotypeScore=6.8807;MQ=58.28;MQ0=1;MQRankSum=-0.937;QD=13.34;ReadPosRankSum=0.183;VQSLOD=4.4130;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,118:238:99:3206,0,3182 1 169512027 169512027 T C exonic F5 synonymous SNV F5:NM_000130:exon13:c.A2301G:p.S767S 0.26 0.17 0.39 0.25 0.25 0.32 0.2737 0.1781 0.4427 0.2181 0.2153 0.2596 0.2797 0.3243 0.24 0.18 0.27 0.34 0.25 rs6021 COSM3747585 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Budd-Chiari_syndrome|Thrombophilia_due_to_activated_protein_C_resistance|Factor_V_deficiency|Thrombophilia RCV000249734.1|RCV000273923.1|RCV000327776.1|RCV000333614.1|RCV000387652.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|C0856761:600880:ORPHA131:82385007|C1861171:188055|C0015499:227400:ORPHA326:4320005|C0398623:188050:234467004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2779 0.1779 0.4161 0.1755 0.2189 0.2138 0.2669 0.2779 0.3293 0.2334 0.1768 0.3971 0.1887 0.2180 0.2149 0.2632 0.2454 het 2560.90 193 1 169512027 . T C 2560.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.305;DP=193;Dels=0.00;FS=0.541;HRun=0;HaplotypeScore=3.7519;MQ=58.69;MQ0=0;MQRankSum=1.628;QD=13.27;ReadPosRankSum=-1.826;VQSLOD=4.5813;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,96:193:99:2591,0,2742 1 169512093 169512093 A G exonic F5 synonymous SNV F5:NM_000130:exon13:c.T2235C:p.N745N 0.26 0.17 0.39 0.25 0.25 0.32 0.2737 0.1779 0.4425 0.2184 0.2153 0.2597 0.2797 0.3243 0.24 0.18 0.27 0.34 0.25 rs6017 COSM3997062 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Budd-Chiari_syndrome|Thrombophilia|Thrombophilia_due_to_activated_protein_C_resistance|Factor_V_deficiency RCV000253194.1|RCV000271620.1|RCV000277632.1|RCV000312705.1|RCV000366389.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0856761:600880:ORPHA131:82385007|C0398623:188050:234467004|C1861171:188055|C0015499:227400:ORPHA326:4320005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2779 0.1778 0.4161 0.1755 0.2189 0.2139 0.2669 0.2777 0.3292 0.2337 0.1769 0.3981 0.1887 0.2199 0.2148 0.2636 0.2454 het 3133.18 245 1 169512093 . A G 3133.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.181;DP=245;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4922;MQ=58.97;MQ0=0;MQRankSum=-1.130;QD=12.79;ReadPosRankSum=-0.378;VQSLOD=5.4302;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,118:245:99:3163,0,3313 1 169512120 169512120 G A exonic F5 synonymous SNV F5:NM_000130:exon13:c.C2208T:p.I736I 0.26 0.17 0.39 0.25 0.25 0.32 0.2736 0.1779 0.4424 0.2183 0.2153 0.2596 0.2797 0.3244 0.24 0.18 0.27 0.34 0.25 rs6016 COSM3750565 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|Thrombophilia|Budd-Chiari_syndrome RCV000248428.1|RCV000288631.1|RCV000340074.1|RCV000343631.1|RCV000397944.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0015499:227400:ORPHA326:4320005|C1861171:188055|C0398623:188050:234467004|C0856761:600880:ORPHA131:82385007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2779 0.1778 0.4160 0.1755 0.2189 0.2139 0.2669 0.2777 0.3292 0.2336 0.1766 0.3983 0.1887 0.2199 0.2146 0.2637 0.2444 het 2822.82 236 1 169512120 . G A 2822.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.970;DP=236;DS;Dels=0.00;FS=1.600;HRun=1;HaplotypeScore=6.4376;MQ=58.93;MQ0=0;MQRankSum=0.880;QD=11.96;ReadPosRankSum=0.254;VQSLOD=5.1578;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,107:236:99:2853,0,3465 1 169519049 169519049 T C exonic F5 nonsynonymous SNV F5:NM_000130:exon10:c.A1601G:p.Q534R 0.99 1. 0.99 1. 0.99 0.99 0.9785 0.9956 0.9939 1 0.9793 0.9687 0.9713 0.9853 0.98 1. 0.97 1. 0.98 rs6025 . . Pathogenic|other|other|other|Benign|Pathogenic\x2cdrug response Thrombophilia_due_to_factor_V_Leiden|Ischemic_stroke\x2c_susceptibility_to|Budd-Chiari_syndrome\x2c_susceptibility_to|Recurrent_abortion|Factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance\x2chormonal_contraceptives_for_systemic_use_response_-_Toxicity/ADR RCV000000674.2|RCV000000675.3|RCV000000676.2|RCV000023935.2|RCV000205002.4|RCV000454249.1\x2cRCV000211384.1 MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM\x2cMedGen C0000809:614389:102878001|C0015499:227400:ORPHA326:4320005|C1861171:188055\x2cCN236515 Venous thromboembolism 0.28 . 22672568 rs6025 2E-22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9802 0.9959 0.9931 0.9814 0.9999 0.9786 0.9697 0.9788 0.9861 0.9830 0.9953 0.9869 0.9801 1 0.9777 0.9754 0.9796 hom 1860.53 61 1 169519049 . T C 1860.53 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=30.50;VQSLOD=9.2514;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1894,150,0 1 169762807 169762807 T G exonic METTL18 nonsynonymous SNV METTL18:NM_001320199:exon2:c.A30C:p.E10D,METTL18:NM_001320201:exon2:c.A30C:p.E10D,METTL18:NM_033418:exon2:c.A30C:p.E10D 0.22 0.27 0.2 0.17 0.16 0.28 0.1853 0.2455 0.2129 0.1675 0.1470 0.1584 0.1854 0.2650 0.18 0.24 0.16 0.2 0.16 rs10489177 COSM5002588 1(pancreas) . . . . . . . . . . . 0.146 0.253 T 0.006 0.126 B 0.004 0.093 B 0.046 0.235 N 1.000 0.204 P 1.895 0.505 L 2.48 0.460 T -0.12 0.088 N 0.028 0.117 -1.086 0.062 T 0.041 0.175 T . . . 0.809 0.171 9.518 0.986 0.427 0.534 0.291 D c -0.250 -0.107 1.000 0.446 0.660 0.490 0 3.01 0.337 0.101 0.150 1.061 0.807 0.943 0.325 0.820 0.343 7.862 0.285 . . . 0.1862 0.2439 0.2223 0.1788 0.1717 0.1445 0.1584 0.1840 0.2643 0.1755 0.2315 0.1742 0.2020 0.1854 0.1483 0.1488 0.1602 het 1307.93 100 1 169762807 . T G 1307.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.247;DP=100;Dels=0.00;FS=1.624;HRun=0;HaplotypeScore=4.1086;MQ=59.44;MQ0=0;MQRankSum=2.341;QD=13.08;ReadPosRankSum=0.760;VQSLOD=5.3055;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,53:100:99:1338,0,1343 1 169823718 169823718 T C exonic SCYL3 nonsynonymous SNV SCYL3:NM_020423:exon12:c.A1700G:p.Q567R,SCYL3:NM_181093:exon13:c.A1862G:p.Q621R 0.68 0.71 0.7 0.66 0.59 0.73 0.6433 0.7108 0.7504 0.6650 0.5596 0.5988 0.6377 0.7282 0.63 0.71 0.58 0.65 0.58 rs4656197 COSM1336135;COSM146679 1(stomach);1(skin);4(prostate) . . . . . . . . . . . 0.527 0.071 T 0.589 0.371 P 0.211 0.357 B 0.889 0.087 N 1 0.090 P 1.61 0.413 L 0.89 0.456 T -0.66 0.225 N 0.082 0.075 -0.996 0.310 T 0.046 0.196 T . . . -1.212 0.025 0.006 0.507 0.044 0.216 0.212 N c -1.061 -1.133 0.042 0.145 0.707 0.730 0 -1.02 0.096 0.019 0.132 -0.330 0.074 0.001 0.137 0.005 0.090 17.403 0.873 . ENSG00000000460.12|ENSG00000075945.8|ENSG00000171806.7 Artery_Aorta|Artery_Tibial|Artery_Tibial 0.6428 0.7108 0.7451 0.6784 0.6647 0.5539 0.5894 0.6498 0.7306 0.6202 0.7036 0.7153 0.7152 0.6551 0.5637 0.5755 0.5939 het 1786.62 162 1 169823718 . T C 1786.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.388;DP=162;Dels=0.00;FS=0.593;HRun=0;HaplotypeScore=4.8604;MQ=59.57;MQ0=0;MQRankSum=-1.016;QD=11.03;ReadPosRankSum=-3.270;VQSLOD=3.3404;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,72:162:99:1817,0,2416 1 169951997 169951997 C T exonic KIFAP3 synonymous SNV KIFAP3:NM_001204516:exon13:c.G1386A:p.G462G,KIFAP3:NM_001204517:exon14:c.G1398A:p.G466G,KIFAP3:NM_014970:exon14:c.G1518A:p.G506G,KIFAP3:NM_001204514:exon15:c.G1284A:p.G428G 0.27 0.087 0.29 0.5 0.33 0.23 0.2964 0.1040 0.2979 0.5040 0.3686 0.3086 0.2862 0.2277 0.25 0.11 0.32 0.3 0.3 rs33943686 COSM3750580;COSM3750581 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2994 0.0959 0.2949 0.2129 0.4950 0.3709 0.3130 0.2851 0.2257 0.2759 0.1084 0.2981 0.1722 0.4994 0.3652 0.3269 0.3248 het 504.55 35 1 169951997 . C T 504.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.364;DP=35;Dels=0.00;FS=4.393;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=0.455;QD=14.02;ReadPosRankSum=2.610;VQSLOD=4.3626;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,21:35:99:535,0,397 1 170501385 170501385 A C exonic GORAB synonymous SNV GORAB:NM_001146039:exon1:c.A96C:p.G32G,GORAB:NM_152281:exon1:c.A96C:p.G32G 0.93 0.73 0.99 1. 1. 1. 0.9797 0.7979 0.9858 1 1 0.9973 0.9923 0.9996 0.94 0.81 1. 0.9 0.97 rs7531125 COSM4143021 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9829 0.7912 0.9858 0.9690 0.9999 1 0.9987 0.9867 0.9995 0.9418 0.7985 0.9821 0.9834 0.9994 1 0.9987 0.9919 hom 3330.18 104 1 170501385 . A C 3330.18 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6584;MQ=59.78;MQ0=0;QD=32.02;VQSLOD=9.1370;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3330,259,0 1 170521376 170521376 G A exonic GORAB nonsynonymous SNV GORAB:NM_152281:exon5:c.G958A:p.E320K,GORAB:NM_001320252:exon7:c.G418A:p.E140K 0.59 0.53 0.59 0.88 0.47 0.52 0.5394 0.5278 0.6807 0.9121 0.5654 0.4776 0.5221 0.4932 0.49 0.53 0.46 0.56 0.41 rs913257 COSM3750583 1(pancreas);1(large_intestine) Benign|Benign not_specified|Geroderma_osteodysplastica RCV000246642.1|RCV000282843.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0432255:231070:ORPHA2078:254116003 . . . . . . 0.059 0.375 T 0.777 0.422 P 0.112 0.300 B 0.000 0.454 D 0.977 0.253 P 2.16 0.606 M -0.01 0.628 T -0.82 0.225 N 0.084 0.083 -1.034 0.192 T 0.085 0.332 T . . . 5.381 0.729 25.9 0.995 0.696 0.917 0.538 D c -0.095 -0.117 0.029 0.139 0.707 0.730 0 2.65 0.305 1.853 0.388 1.048 0.713 0.990 0.367 0.171 0.210 9.782 0.396 . ENSG00000075945.8 Cells_Transformed_fibroblasts 0.5428 0.5224 0.6699 0.4139 0.9105 0.5587 0.4734 0.5058 0.4966 0.5294 0.5227 0.6193 0.4139 0.9022 0.5713 0.4809 0.5245 het 746.69 67 1 170521376 . G A 746.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.802;DP=67;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7608;MQ=59.10;MQ0=0;MQRankSum=0.965;QD=11.14;ReadPosRankSum=0.725;VQSLOD=6.6157;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,30:67:99:777,0,992 1 171076966 171076966 G A exonic FMO3 nonsynonymous SNV FMO3:NM_001319174:exon3:c.G283A:p.E95K,FMO3:NM_001002294:exon4:c.G472A:p.E158K,FMO3:NM_006894:exon4:c.G472A:p.E158K,FMO3:NM_001319173:exon5:c.G412A:p.E138K 0.35 0.5 0.32 0.19 0.37 0.31 0.3830 0.4666 0.3075 0.2031 0.4513 0.4130 0.4064 0.3273 0.43 0.47 0.41 0.45 0.42 rs2266782 COSM5618417 1(breast) Pathogenic|Likely pathogenic|Pathogenic|Benign|Benign Trimethylaminuria\x2c_mild|Trimethylaminuria|Trimethylaminuria|not_specified|Trimethylaminuria RCV000017711.6|RCV000201276.1|RCV000201278.1|RCV000248637.1|RCV000361492.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT C4016101|C0342739:602079:ORPHA468726:237959005|C0342739:602079:ORPHA468726:237959005|CN169374|C0342739:602079:ORPHA468726:237959005 . . . . . . 0.562 0.063 T 0.481 0.349 P 0.164 0.333 B 0.071 0.215 N 0.992 0.239 P 1.185 0.302 L 0.5 0.556 T -1.48 0.362 N 0.282 0.341 -1.097 0.044 T 0.052 0.222 T . . . 2.855 0.404 21.6 0.987 0.444 0.323 0.243 N c -0.483 -0.402 1.000 0.451 0.487 0.133 0 3.78 0.425 0.221 0.173 0.918 0.429 0.000 0.063 0.931 0.405 10.54 0.440 FAD/NAD(P)-binding domain . . 0.3749 0.4644 0.3057 0.3137 0.2002 0.4416 0.4155 0.3666 0.3299 0.4246 0.4554 0.3182 0.3113 0.2123 0.4413 0.4347 0.4151 het 2769.33 217 1 171076966 . G A 2769.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.566;DP=217;Dels=0.00;FS=1.682;HRun=4;HaplotypeScore=8.4435;MQ=58.94;MQ0=0;MQRankSum=1.741;QD=12.76;ReadPosRankSum=-0.696;VQSLOD=4.4470;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,109:217:99:2799,0,2646 1 171162551 171162551 - GAC exonic FMO2 unknown UNKNOWN 0.1 0.3 0.048 0.002 0.045 0.043 0.0603 0.2664 0.0342 0.0003 0.0256 0.0467 0.0452 0.0497 0.12 0.25 0.048 . . rs397844260 COSM4603461 3(upper_aerodigestive_tract);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0556 0.2685 0.0354 0.0880 0.0005 0.0237 0.0463 0.0483 0.0504 0.0967 0.2541 0.0370 0.1060 0.0006 0.0226 0.0403 0.0347 het 2814.16 108 1 171162551 . T TGAC 2814.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.524;DP=108;FS=0.000;HRun=0;HaplotypeScore=417.8132;MQ=55.97;MQ0=0;MQRankSum=-2.257;QD=26.06;ReadPosRankSum=1.576;set=variant2 GT:AD:DP:GQ:PL 0/1:65,42:108:99:2853,0,2142 1 171162583 171162583 T C exonic FMO2 unknown UNKNOWN 0.1 0.3 0.048 0.002 0.045 0.043 0.0605 0.2674 0.0343 0.0005 0.0256 0.0468 0.0453 0.0498 0.11 0.24 0.048 0.076 0.049 rs2020860 . . . . . . . . . . . . . 0.003 0.682 D 0.999 0.764 D 0.991 0.782 D 0.000 0.559 D 0.003 0.434 P 4.295 0.983 H 0.15 0.608 T -5.58 0.864 D 0.336 0.397 0.326 0.880 D 0.489 0.806 T . . . 4.357 0.583 24.1 0.999 0.951 0.932 0.574 D c 0.840 0.741 0.993 0.328 0.487 0.133 0 5.44 0.793 1.227 0.320 1.061 0.807 1.000 0.715 0.999 0.750 15.165 0.724 FAD/NAD(P)-binding domain ENSG00000225243.1|ENSG00000094963.9|ENSG00000225243.1|ENSG00000225243.1|ENSG00000094963.9|ENSG00000094963.9|ENSG00000225243.1|ENSG00000225243.1|ENSG00000094963.9|ENSG00000225243.1|ENSG00000225243.1|ENSG00000094963.9|ENSG00000225243.1|ENSG00000094963.9|ENSG00000094963.9|ENSG00000225243.1|ENSG00000094963.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.0557 0.2691 0.0358 0.0878 0.0005 0.0236 0.0464 0.0488 0.0506 0.0972 0.2559 0.0370 0.1060 0.0006 0.0226 0.0402 0.0347 het 726.80 68 1 171162583 . T C 726.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.957;DP=68;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7510;MQ=58.00;MQ0=0;MQRankSum=0.851;QD=10.69;ReadPosRankSum=-1.469;VQSLOD=5.1840;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,31:68:99:757,0,1044 1 171165803 171165803 G - exonic FMO2 unknown UNKNOWN 0.1 0.3 0.048 0.002 0.045 0.043 0.0606 0.2665 0.0343 0.0003 0.0257 0.0468 0.0457 0.0506 0.12 0.25 0.048 0.087 0.057 rs28369860 COSM5713043 1(central_nervous_system) Benign not_specified RCV000455208.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0561 0.2699 0.0365 0.0882 0.0005 0.0238 0.0466 0.0489 0.0514 0.0971 0.2554 0.0370 0.1060 0.0006 0.0226 0.0402 0.0367 het 1285.69 72 1 171165802 . TG T 1285.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.987;DP=72;FS=0.000;HRun=1;HaplotypeScore=170.6508;MQ=58.59;MQ0=0;MQRankSum=0.419;QD=17.86;ReadPosRankSum=0.529;set=variant2 GT:AD:DP:GQ:PL 0/1:33,39:72:99:1325,0,1259 1 171168584 171168584 C T exonic FMO2 unknown UNKNOWN 0.47 0.53 0.48 0.55 0.3 0.5 0.3960 0.5073 0.5274 0.5607 0.2821 0.3234 0.3711 0.4883 0.38 0.49 0.32 . 0.31 rs2020862 COSM146682 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(liver);1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.238 0.291 B 0.366 0.416 B 0.000 0.843 D 0.000 0.588 P 5.1 0.999 H 0.18 0.604 T -5.56 0.863 D 0.36 0.421 -0.027 0.817 T 0.470 0.796 T . . . 6.057 0.834 28.1 0.999 0.981 0.985 0.835 D c 0.594 0.573 1.000 0.747 0.554 0.283 0 6.17 0.997 7.796 0.843 0.931 0.441 1.000 0.715 0.680 0.305 19.651 0.958 FAD/NAD(P)-binding domain ENSG00000225243.1|ENSG00000225243.1|ENSG00000094963.9|ENSG00000225243.1|ENSG00000225243.1|ENSG00000094963.9|ENSG00000225243.1 Artery_Aorta|Artery_Tibial|Artery_Tibial|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal 0.3964 0.5149 0.5146 0.4943 0.5557 0.2789 0.3143 0.3642 0.4796 0.3706 0.4978 0.4806 0.4698 0.5555 0.2742 0.2930 0.3539 hom 5807.84 184 1 171168584 . C T 5807.84 Mask AC=2;AF=1.00;AN=2;DP=184;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5518;MQ=59.27;MQ0=0;QD=31.56;VQSLOD=9.1033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,184:184:99:5807,448,0 1 171168585 171168585 A G exonic FMO2 unknown UNKNOWN 0.59 0.72 0.62 0.6 0.39 0.58 0.5021 0.6882 0.6801 0.6039 0.3936 0.4188 0.4879 0.5887 0.5 0.67 0.42 0.14 0.48 rs2020861 COSM146683 1(breast);1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5019 0.6963 0.6628 0.5411 0.6005 0.3915 0.4106 0.4725 0.5816 0.4903 0.6711 0.6247 0.5302 0.5964 0.3775 0.3946 0.4609 hom 6025.09 186 1 171168585 . A G 6025.09 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.5518;MQ=59.28;MQ0=0;QD=32.39;VQSLOD=8.6253;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:6025,457,0 1 171176912 171176912 T G exonic FMO2 unknown UNKNOWN 0.11 0.33 0.05 0.002 0.047 0.044 0.0631 0.2995 0.0357 0.0003 0.0238 0.0467 0.0453 0.0509 0.13 0.28 0.049 0.12 0.057 rs2020865 COSM4985364 4(soft_tissue);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.064 0.220 N 1.000 0.090 P -1.23 0.008 N 0.41 0.571 T 0.94 0.015 N 0.014 0.002 -1.004 0.286 T 0.009 0.032 T . . . 0.342 0.127 6.096 0.731 0.099 0.167 0.193 N c -1.050 -0.856 0.005 0.108 0.487 0.133 0 -1.15 0.092 -0.060 0.116 1.057 0.759 0.501 0.267 0.984 0.507 1.916 0.031 FAD/NAD(P)-binding domain ENSG00000225243.1|ENSG00000094963.9|ENSG00000094963.9|ENSG00000225243.1|ENSG00000094963.9|ENSG00000225243.1 Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal 0.0577 0.2998 0.0371 0.0924 0.0005 0.0217 0.0461 0.0501 0.0512 0.1076 0.2904 0.0394 0.11 0.0006 0.0222 0.0407 0.0352 het 2261.68 142 1 171176912 . T G 2261.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.986;DP=142;Dels=0.00;FS=4.218;HRun=1;HaplotypeScore=0.6651;MQ=59.53;MQ0=0;MQRankSum=0.932;QD=15.93;ReadPosRankSum=0.241;VQSLOD=6.2575;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,85:142:99:2292,0,1376 1 171227216 171227216 T C exonic FMO1 startloss FMO1:NM_001282692:exon1:c.T2C:p.Q2_M5del 0.42 0.77 0.34 0.19 0.28 0.38 0.3217 0.7057 0.2964 0.1973 0.2723 0.2800 0.2775 0.3530 0.41 0.68 0.28 0.55 0.16 rs10912675 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3092 0.7141 0.2966 0.2842 0.1898 0.2738 0.2774 0.2807 0.3425 0.3990 0.6974 0.3007 0.2833 0.2133 0.2788 0.2861 0.3245 het 993.38 70 1 171227216 . T C 993.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.624;DP=70;Dels=0.00;FS=2.038;HRun=0;HaplotypeScore=0.9665;MQ=59.13;MQ0=0;MQRankSum=0.835;QD=14.19;ReadPosRankSum=0.165;VQSLOD=5.9621;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,37:70:99:1023,0,884 1 171509327 171509327 G A exonic PRRC2C nonsynonymous SNV PRRC2C:NM_015172:exon16:c.G2716A:p.A906T 0.8 0.72 0.72 0.9 0.82 0.85 0.8174 0.7589 0.6915 0.8896 0.8541 0.8200 0.8293 0.8784 0.79 0.76 0.81 0.74 . rs760644 COSM1158681;COSM1158680 1(pancreas);5(prostate) . . . . . . . . . . . 1.0 0.022 T 0.001 0.067 B 0.002 0.063 B 0.405 0.131 N 1 0.090 P -1.085 0.010 N 3.12 0.081 T 0.65 0.026 N 0.003 0.000 -0.930 0.442 T 0.003 0.008 T . . . -0.063 0.088 2.021 0.549 0.051 0.026 0.070 N c -1.777 -1.739 0.011 0.122 0.707 0.730 0 -4.06 0.037 0.088 0.147 -0.418 0.060 0.000 0.063 0.001 0.043 14.179 0.649 . ENSG00000117523.11|ENSG00000117523.11 Adipose_Subcutaneous|Artery_Tibial 0.8133 0.7585 0.6967 0.8141 0.8900 0.8475 0.8188 0.8163 0.8788 0.8149 0.7730 0.7368 0.8046 0.8835 0.8567 0.8248 0.8442 hom 2601.99 85 1 171509327 . G A 2601.99 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7900;MQ=60.00;MQ0=0;QD=30.61;VQSLOD=8.7038;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2635,220,0 1 171511039 171511039 C G exonic PRRC2C synonymous SNV PRRC2C:NM_015172:exon16:c.C4428G:p.S1476S 0.81 0.75 0.73 0.9 0.82 0.85 0.8193 0.7788 0.6929 0.8893 0.8544 0.8200 0.8259 0.8789 0.8 0.77 0.81 0.77 . rs1687064 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8150 0.7813 0.6987 0.8139 0.8900 0.8476 0.8189 0.8169 0.8791 0.8201 0.7906 0.7368 0.8046 0.8821 0.8568 0.8253 0.8456 hom 3739.13 122 1 171511039 . C G 3739.13 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8100;MQ=59.81;MQ0=0;QD=30.65;VQSLOD=8.9661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:122:99:3738,307,0 1 171514731 171514731 C G exonic PRRC2C nonsynonymous SNV PRRC2C:NM_015172:exon17:c.C4871G:p.S1624C 0.8 0.73 0.73 0.9 0.82 0.85 0.8232 0.7657 0.7051 0.8937 0.8562 0.8253 0.8345 0.8812 0.79 0.76 0.81 0.76 . rs235468 . . . . . . . . . . . . . 0.03 0.457 D 0.547 0.362 P 0.416 0.432 B 0.839 0.090 N 1 0.090 P 0.345 0.112 N 4.48 0.021 T -1.63 0.391 N 0.046 0.269 -0.828 0.534 T 0.004 0.011 T . . . 1.629 0.257 14.01 0.759 0.109 0.489 0.281 N c -0.376 -0.375 0.048 0.148 0.707 0.730 0 3.27 0.364 1.442 0.344 0.931 0.441 0.003 0.159 0.875 0.366 11.420 0.490 . ENSG00000117523.11|ENSG00000117523.11 Adipose_Subcutaneous|Artery_Tibial 0.8136 0.7637 0.6973 0.8147 0.8917 0.8471 0.8185 0.8169 0.8791 0.8158 0.7755 0.7362 0.8046 0.8830 0.8581 0.8250 0.8447 hom 1268.93 38 1 171514731 . C G 1268.93 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=33.39;VQSLOD=9.0153;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1302,99,0 1 171556165 171556165 G C exonic PRRC2C synonymous SNV PRRC2C:NM_015172:exon31:c.G7767C:p.S2589S 0.79 0.71 0.73 0.9 0.82 0.82 0.8190 0.7559 0.7101 0.8898 0.8549 0.8230 0.8249 0.8624 0.79 0.74 0.81 0.76 . rs235501 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8086 0.7505 0.6939 0.8143 0.8891 0.8466 0.8160 0.8126 0.8606 0.8121 0.7642 0.7327 0.8046 0.8815 0.8570 0.8246 0.8432 hom 1003.54 30 1 171556165 . G C 1003.54 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.45;VQSLOD=14.1647;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:81.24:1037,81,0 1 171751236 171751236 T C exonic METTL13 synonymous SNV METTL13:NM_001007239:exon1:c.T129C:p.H43H,METTL13:NM_015935:exon1:c.T129C:p.H43H 0.53 0.73 0.44 0.66 0.44 0.3 0.4706 0.7 0.3750 0.6442 0.4678 0.4684 0.4758 0.3118 0.55 0.7 0.47 0.55 0.51 rs2294720 COSM146685 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4655 0.7045 0.3906 0.5477 0.6369 0.4694 0.4626 0.4682 0.3128 0.5540 0.7090 0.3974 0.5132 0.6334 0.4748 0.4886 0.4734 hom 3787.52 115 1 171751236 . T C 3787.52 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5310;MQ=59.07;MQ0=0;QD=32.93;VQSLOD=9.1931;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3787,289,0 1 171753039 171753039 A G exonic METTL13 nonsynonymous SNV METTL13:NM_001007239:exon2:c.A313G:p.M105V,METTL13:NM_014955:exon2:c.A55G:p.M19V,METTL13:NM_015935:exon2:c.A313G:p.M105V 0.31 0.28 0.29 0.52 0.24 0.19 0.2858 0.3124 0.2722 0.5373 0.2933 0.2722 0.2914 0.1983 0.28 0.31 0.27 0.29 0.3 rs2232816 . . . . . . . . . . . . . 0.974 0.087 T 0.015 0.176 B 0.02 0.179 B 0.000 0.629 D 1.000 0.299 P -0.08 0.048 N 1.07 0.618 T 0.17 0.051 N 0.081 0.097 -1.067 0.102 T 0.037 0.158 T . . . 0.233 0.116 5.023 0.942 0.238 0.826 0.415 D c -0.394 -0.142 1.000 0.747 0.707 0.730 0 5.33 0.756 3.536 0.531 1.088 0.866 1.000 0.715 0.994 0.587 7.714 0.277 Methyltransferase type 11|S-adenosyl-L-methionine-dependent methyltransferase;S-adenosyl-L-methionine-dependent methyltransferase ENSG00000197959.9 Thyroid 0.2869 0.3095 0.2770 0.3663 0.5284 0.2919 0.2657 0.2941 0.1979 0.3016 0.3051 0.2590 0.2947 0.5249 0.2904 0.2818 0.2843 het 2411.14 201 1 171753039 . A G 2411.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.076;DP=201;Dels=0.00;FS=9.327;HRun=0;HaplotypeScore=2.8919;MQ=59.26;MQ0=0;MQRankSum=0.727;QD=12.00;ReadPosRankSum=0.269;VQSLOD=4.9419;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:107,94:201:99:2441,0,2913 1 171755071 171755071 A G exonic METTL13 synonymous SNV METTL13:NM_001007239:exon3:c.A498G:p.K166K,METTL13:NM_014955:exon3:c.A708G:p.K236K,METTL13:NM_015935:exon3:c.A966G:p.K322K 0.033 0.003 0.048 . 0.11 0.02 0.0791 0.0145 0.0362 0.0005 0.1223 0.1146 0.0909 0.0293 0.075 0.016 0.11 0.011 0.12 rs17650204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0754 0.0137 0.0370 0.1036 5.799e-05 0.1173 0.1085 0.0813 0.0295 0.0817 0.0181 0.0549 0.1358 0.0006 0.1168 0.1187 0.0973 het 458.40 27 1 171755071 . A G 458.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.132;DP=27;Dels=0.00;FS=2.021;HRun=0;HaplotypeScore=0.0000;MQ=58.88;MQ0=1;MQRankSum=1.401;QD=16.98;ReadPosRankSum=-0.377;VQSLOD=5.5968;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,17:27:99:488,0,230 1 171755170 171755170 G A exonic METTL13 synonymous SNV METTL13:NM_001007239:exon3:c.G597A:p.S199S,METTL13:NM_014955:exon3:c.G807A:p.S269S,METTL13:NM_015935:exon3:c.G1065A:p.S355S 0.32 0.32 0.29 0.52 0.24 0.19 0.2904 0.3502 0.2740 0.5345 0.2979 0.2736 0.2966 0.2009 0.3 0.35 0.27 0.24 0.3 rs2232818 COSM5427427 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2885 0.3419 0.2778 0.3662 0.5270 0.2915 0.2649 0.2951 0.1978 0.3124 0.3414 0.2632 0.2947 0.5267 0.2908 0.2823 0.2867 het 673.89 56 1 171755170 . G A 673.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.443;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.67;MQ0=0;MQRankSum=0.000;QD=12.03;ReadPosRankSum=0.459;VQSLOD=7.2474;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,27:56:99:704,0,757 1 171755182 171755182 G A exonic METTL13 nonsynonymous SNV METTL13:NM_001007239:exon3:c.G609A:p.M203I,METTL13:NM_014955:exon3:c.G819A:p.M273I,METTL13:NM_015935:exon3:c.G1077A:p.M359I 0.1 0.021 0.11 0.13 0.2 0.089 0.1531 0.0405 0.0865 0.1098 0.1828 0.1965 0.1659 0.1040 0.14 0.047 0.2 0.12 0.19 rs2232819 COSM146686 1(breast);1(stomach);1(pancreas);1(prostate) . . . . . . . . . . . 0.034 0.469 D 0.376 0.439 B 0.164 0.455 B 0.004 0.344 N 0.000 0.588 P 2.24 0.636 M 1.0 0.414 T -2.29 0.510 N 0.103 0.160 -1.075 0.084 T 0.094 0.357 T . . . 3.231 0.447 22.8 0.989 0.470 0.997 0.985 D c 0.465 0.561 1.000 0.747 0.722 0.854 0 5.36 0.765 9.579 0.973 1.048 0.713 1.000 0.715 0.999 0.750 18.032 0.892 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000010165.15|ENSG00000010165.15|ENSG00000197959.9|ENSG00000197959.9|ENSG00000010165.15|ENSG00000034971.10|ENSG00000010165.15 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.1493 0.0376 0.0925 0.1736 0.1087 0.1768 0.1935 0.1547 0.1015 0.1475 0.0409 0.1158 0.2119 0.1072 0.1840 0.2043 0.1731 het 805.98 61 1 171755182 . G A 805.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.106;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=59.69;MQ0=0;MQRankSum=0.630;QD=13.21;ReadPosRankSum=-0.687;VQSLOD=6.6422;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,33:61:99:836,0,700 1 171763549 171763549 C T exonic METTL13 synonymous SNV METTL13:NM_001007239:exon7:c.C1239T:p.Y413Y,METTL13:NM_014955:exon7:c.C1449T:p.Y483Y,METTL13:NM_015935:exon7:c.C1707T:p.Y569Y 0.12 0.023 0.16 0.13 0.22 0.093 0.1657 0.0442 0.1396 0.1073 0.2055 0.2072 0.1828 0.1061 0.16 0.053 0.21 0.13 0.19 rs2232825 COSM146687 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1672 0.0433 0.1430 0.1762 0.1091 0.2067 0.2080 0.1736 0.1069 0.1624 0.0478 0.1722 0.22 0.1088 0.2115 0.2198 0.1906 het 1080.80 77 1 171763549 . C T 1080.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.426;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8313;MQ=59.76;MQ0=0;MQRankSum=-0.026;QD=14.04;ReadPosRankSum=-1.071;VQSLOD=6.4255;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,42:77:99:1111,0,867 1 172356437 172356437 A G exonic DNM3 synonymous SNV DNM3:NM_001136127:exon18:c.A2211G:p.T737T,DNM3:NM_001350204:exon19:c.A2241G:p.T747T,DNM3:NM_001350206:exon19:c.A2241G:p.T747T,DNM3:NM_015569:exon19:c.A2223G:p.T741T 1. 1. 0.99 1. 0.99 1. 0.9919 0.9984 0.9969 1 0.9971 0.9869 0.9889 0.9983 0.99 1. 0.99 0.99 . rs6688654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9923 0.9980 0.9971 0.9910 1 0.9970 0.9864 0.9940 0.9984 0.9918 0.9974 0.9952 0.9934 1 0.9974 0.9861 0.9939 hom 1349.45 43 1 172356437 . A G 1349.45 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=31.38;VQSLOD=9.4988;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1382,114,0 1 172410967 172410967 G A exonic PIGC nonsynonymous SNV PIGC:NM_002642:exon2:c.C796T:p.P266S,PIGC:NM_153747:exon2:c.C796T:p.P266S 0.45 0.06 0.54 0.66 0.6 0.57 0.5482 0.1359 0.6357 0.6374 0.5938 0.5760 0.5716 0.5683 0.42 0.15 0.56 0.41 0.49 rs1063412 COSM3750596 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.810 P 1.49 0.374 L 0.36 0.579 T -6.06 0.898 D 0.297 0.357 -0.772 0.568 T 0.179 0.526 T . . . 5.066 0.682 25.3 0.999 0.964 0.959 0.665 D c 0.642 0.621 1.000 0.747 0.732 0.924 0 4.24 0.493 9.185 0.940 0.953 0.551 1.000 0.715 0.994 0.587 12.321 0.541 . ENSG00000135845.5|ENSG00000135845.5 Testis|Whole_Blood 0.5570 0.1287 0.6203 0.5436 0.6456 0.5917 0.5721 0.5775 0.5723 0.4516 0.1391 0.5990 0.5033 0.6199 0.5899 0.5654 0.5796 het 1295.77 122 1 172410967 . G A 1295.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.796;DP=122;Dels=0.00;FS=1.553;HRun=1;HaplotypeScore=2.7977;MQ=59.81;MQ0=0;MQRankSum=0.367;QD=10.62;ReadPosRankSum=0.108;VQSLOD=6.4693;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,50:122:99:1326,0,2040 1 172411496 172411496 A G exonic PIGC synonymous SNV PIGC:NM_002642:exon2:c.T267C:p.G89G,PIGC:NM_153747:exon2:c.T267C:p.G89G 0.92 0.9 0.91 1. 0.85 0.96 0.8747 0.8944 0.9066 0.9995 0.7753 0.8442 0.8645 0.9382 0.85 0.89 0.83 0.92 0.83 rs2230471 COSM3750597 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8731 0.8936 0.9036 0.9236 0.9996 0.7742 0.8385 0.8856 0.9375 0.8469 0.8893 0.8986 0.9305 0.9994 0.7751 0.8184 0.8401 het 1766.87 152 1 172411496 . A G 1766.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.886;DP=152;Dels=0.00;FS=4.204;HRun=1;HaplotypeScore=1.8888;MQ=59.67;MQ0=0;MQRankSum=-1.550;QD=11.62;ReadPosRankSum=1.166;VQSLOD=5.4149;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,71:152:99:1797,0,2189 1 172437592 172437592 G A exonic C1orf105 nonsynonymous SNV C1orf105:NM_001300760:exon5:c.G380A:p.S127N,C1orf105:NM_139240:exon7:c.G410A:p.S137N 0.84 0.67 0.85 1. 0.81 0.94 0.8251 0.7050 0.8815 0.9992 0.7390 0.8008 0.8260 0.9024 0.76 0.71 0.78 0.81 0.8 rs1129942 COSM3750598 1(large_intestine) . . . . . . . . . . . 0.319 0.204 T 0.04 0.198 B 0.027 0.198 B 0.001 0.396 N 0.000 0.588 P 0.895 0.225 L 0.91 0.449 T -1.28 0.346 N 0.025 0.018 -1.073 0.089 T 0.029 0.125 T . . . 0.582 0.150 8.033 0.960 0.277 0.052 0.108 N c -0.822 -0.840 0.990 0.321 0.487 0.133 0 1.08 0.194 -0.313 0.081 0.126 0.213 0.010 0.182 0.286 0.235 6.607 0.218 . ENSG00000094975.9|ENSG00000135845.5|ENSG00000135845.5 Pancreas|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.8262 0.7006 0.8760 0.8908 0.9993 0.7399 0.7915 0.8446 0.9017 0.7632 0.6953 0.8529 0.9007 0.9994 0.7425 0.7728 0.7863 het 2738.51 248 1 172437592 . G A 2738.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.552;DP=248;DS;Dels=0.00;FS=4.764;HRun=3;HaplotypeScore=5.7705;MQ=58.58;MQ0=0;MQRankSum=0.037;QD=11.04;ReadPosRankSum=-1.262;VQSLOD=4.3605;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:137,110:248:99:2769,0,3853 1 172501643 172501643 T C exonic SUCO nonsynonymous SNV SUCO:NM_016227:exon1:c.T31C:p.S11P 0.25 0.21 0.21 0.19 0.25 0.39 0.2580 0.2210 0.2098 0.1896 0.2027 0.2543 0.2794 0.3852 0.23 0.2 0.25 0.29 . rs2239816 COSM146688 1(stomach);1(biliary_tract) . . . . . . . . . . . 0.0 0.912 D . . . . . . 0.375 0.044 N 1 0.090 P . . . . . . -0.2 0.102 N 0.028 0.009 -0.965 0.383 T 0.043 0.186 T . . . 0.212 0.114 4.802 0.574 0.056 0.018 0.055 N c -0.855 -1.040 1.0 0.983 0.035 0.002 3 -1.3 0.087 -1.718 0.020 -0.451 0.056 0.000 0.063 0.000 0.016 4.479 0.111 . ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung 0.2465 0.2012 0.1979 0.3275 0.1831 0.1943 0.2456 0.2587 0.3709 0.2089 0.2036 0.1914 0.3808 0.1599 0.1910 0.2188 0.2112 het 308.98 29 1 172501643 . T C 308.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.989;DP=29;Dels=0.00;FS=4.410;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.067;QD=10.65;ReadPosRankSum=-0.292;VQSLOD=6.1633;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,11:29:99:339,0,460 1 172547465 172547465 A G exonic SUCO synonymous SNV SUCO:NM_001282750:exon13:c.A1257G:p.E419E,SUCO:NM_016227:exon13:c.A1821G:p.E607E,SUCO:NM_014283:exon14:c.A1368G:p.E456E 0.25 0.24 0.21 0.2 0.23 0.39 0.2439 0.2298 0.2038 0.1908 0.1621 0.2367 0.2676 0.3688 0.24 0.23 0.24 0.28 0.22 rs2285664 COSM3750600;COSM3750599 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2390 0.2253 0.1980 0.3262 0.1884 0.1561 0.2341 0.2520 0.3661 0.2057 0.2268 0.1878 0.3767 0.1671 0.1585 0.2065 0.2025 het 605.95 66 1 172547465 . A G 605.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.032;DP=66;Dels=0.00;FS=2.174;HRun=0;HaplotypeScore=1.4972;MQ=58.51;MQ0=0;MQRankSum=1.983;QD=9.18;ReadPosRankSum=0.833;VQSLOD=5.2645;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,25:66:99:636,0,1013 1 175046789 175046789 A G exonic TNN nonsynonymous SNV TNN:NM_022093:exon2:c.A235G:p.R79G 0.57 0.85 0.52 0.38 0.51 0.49 0.5148 0.7852 0.4628 0.4123 0.4986 0.4994 0.5123 0.5036 0.59 0.78 0.5 0.61 0.53 rs2072032 COSM3723919 1(skin);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.662 0.047 T 0.0 0.026 B 0.0 0.013 B 0.049 0.232 N 1 0.090 P -2.125 0.001 N 1.78 0.257 T 2.25 0.003 N 0.016 0.012 -1.055 0.130 T 0.000 0.000 T . . . -1.373 0.020 0.004 0.112 0.002 0.002 0.009 N c -1.672 -1.615 0.049 0.148 0.581 0.326 0 0.071 0.136 0.821 0.268 -1.579 0.009 0.001 0.137 0.007 0.100 4.944 0.132 . ENSG00000120332.11|ENSG00000120332.11|ENSG00000120332.11|ENSG00000120332.11 Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Pituitary 0.5057 0.7878 0.4622 0.4704 0.4046 0.4964 0.5010 0.5097 0.5045 0.5771 0.7801 0.4629 0.4933 0.4120 0.4994 0.5063 0.5256 hom 2141.85 67 1 175046789 . A G 2141.85 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=59.72;MQ0=0;QD=31.97;VQSLOD=8.7132;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2175,178,0 1 175054548 175054548 C T exonic TNN synonymous SNV TNN:NM_022093:exon6:c.C1242T:p.H414H 0.54 0.75 0.51 0.38 0.51 0.48 0.5108 0.6889 0.4606 0.4158 0.5114 0.5034 0.5203 0.5119 0.56 0.68 0.5 0.58 0.51 rs1573758 COSM5618875 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4961 0.6830 0.4537 0.4717 0.4025 0.4947 0.4984 0.5039 0.5023 0.5460 0.6705 0.4603 0.4967 0.4089 0.5 0.5063 0.5214 hom 472.98 17 1 175054548 . C T 472.98 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;QD=27.82;VQSLOD=8.6076;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:42.12:506,42,0 1 175087729 175087729 T C exonic TNN nonsynonymous SNV TNN:NM_022093:exon11:c.T2419C:p.W807R 0.47 0.91 0.38 0.07 0.45 0.39 0.4237 0.8361 0.3114 0.0696 0.3768 0.4368 0.4064 0.3951 0.57 0.82 0.44 0.53 0.48 rs6696455 COSM3746666 1(liver);1(thyroid) . . . . . . . . . . . 0.401 0.104 T 0.0 0.026 B 0.001 0.040 B 0.972 0.081 N 1 0.090 P -2.4 0.001 N 0.51 0.555 T 1.64 0.006 N 0.007 0.010 -0.990 0.325 T 0.000 0.000 T . . . -1.703 0.013 0.002 0.293 0.015 0.003 0.017 N c -1.713 -1.603 0.998 0.357 0.554 0.246 0 0.856 0.181 -0.704 0.051 -0.992 0.022 0.000 0.063 0.005 0.090 4.715 0.122 Fibronectin type III|Immunoglobulin-like fold ENSG00000120332.11|ENSG00000120332.11 Esophagus_Mucosa|Heart_Atrial_Appendage 0.4107 0.8449 0.3224 0.4377 0.0637 0.3768 0.4391 0.4252 0.3964 0.5206 0.8345 0.3138 0.4371 0.0723 0.3733 0.4394 0.4290 hom 5371.30 184 1 175087729 . T C 5371.30 Mask AC=2;AF=1.00;AN=2;DP=184;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8835;MQ=59.25;MQ0=0;QD=29.19;VQSLOD=7.9168;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,184:184:99:5370,433,0 1 175092674 175092674 C T exonic TNN nonsynonymous SNV TNN:NM_022093:exon12:c.C2789T:p.P930L 0.6 0.62 0.67 0.49 0.64 0.58 0.6033 0.6092 0.6636 0.5052 0.6071 0.6191 0.5749 0.5448 0.62 0.61 0.63 0.66 0.65 rs2285215 COSM146692 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.37 0.115 T 0.973 0.556 D 0.703 0.524 P 0.011 0.298 N 1 0.090 P 1.39 0.351 L 0.46 0.563 T -1.87 0.437 N 0.06 0.083 -0.911 0.468 T 0.000 0.000 T . . . 1.178 0.208 11.63 0.996 0.758 0.085 0.143 N c -0.149 -0.309 0.416 0.202 0.534 0.214 0 3.1 0.346 0.496 0.220 0.935 0.490 0.000 0.063 0.588 0.286 5.896 0.181 Fibronectin type III|Immunoglobulin-like fold ENSG00000120332.11 Heart_Atrial_Appendage 0.6072 0.6057 0.6634 0.5503 0.5068 0.6143 0.6260 0.6138 0.5469 0.6252 0.6051 0.6647 0.5633 0.5398 0.6251 0.6451 0.6240 hom 4903.85 155 1 175092674 . C T 4903.85 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6393;MQ=59.04;MQ0=0;QD=31.64;VQSLOD=8.5611;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4903,376,0 1 175092707 175092707 C T exonic TNN nonsynonymous SNV TNN:NM_022093:exon12:c.C2822T:p.T941M 0.3 0.43 0.28 0.097 0.44 0.2 0.3428 0.4109 0.2026 0.0872 0.4485 0.4094 0.3491 0.2200 0.41 0.4 0.42 0.37 0.43 rs10798333 . . . . . . . . . . . . . 0.034 0.440 D 0.538 0.360 P 0.292 0.390 B 0.000 0.537 N 0.994 0.236 P 2.545 0.745 M 0.24 0.596 T -2.84 0.598 D 0.076 0.168 -0.974 0.364 T 0.000 0.000 T . . . 3.846 0.519 23.4 0.989 0.475 0.157 0.189 N c -0.353 -0.397 0.585 0.216 0.534 0.214 0 3.11 0.347 0.126 0.155 -0.382 0.065 0.005 0.169 0.047 0.162 6.990 0.238 Fibronectin type III|Immunoglobulin-like fold ENSG00000235750.5 Skin_Not_Sun_Exposed_Suprapubic 0.3384 0.4080 0.2166 0.2695 0.0858 0.4585 0.4170 0.3518 0.2254 0.4058 0.4003 0.2464 0.2914 0.0877 0.4633 0.4419 0.3978 hom 4095.60 129 1 175092707 . C T 4095.60 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6457;MQ=59.50;MQ0=0;QD=31.75;VQSLOD=8.2836;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4095,325,0 1 175113578 175113578 T C exonic TNN synonymous SNV TNN:NM_022093:exon18:c.T3651C:p.N1217N 0.99 1. 0.97 1. 0.96 1. 0.9749 0.9923 0.9830 0.9941 0.9828 0.9629 0.9736 0.9939 0.97 0.99 0.96 0.99 0.98 rs10912897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9748 0.9933 0.9804 0.9797 0.9941 0.9806 0.9607 0.9756 0.9939 0.9782 0.9933 0.9726 0.9768 0.9944 0.9820 0.9674 0.9715 hom 4452.83 149 1 175113578 . T C 4452.83 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7586;MQ=59.51;MQ0=0;QD=29.88;VQSLOD=8.0401;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4452,364,0 1 175299301 175299301 T C exonic TNR synonymous SNV TNR:NM_001328635:exon21:c.A2703G:p.Q901Q,TNR:NM_003285:exon21:c.A3702G:p.Q1234Q 0.77 0.84 0.76 0.79 0.72 0.69 0.7452 0.8105 0.8452 0.8202 0.7270 0.7237 0.7246 0.6900 0.75 0.81 0.72 0.8 0.82 rs2027867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7489 0.8131 0.8396 0.7264 0.8149 0.7366 0.7247 0.7237 0.6889 0.7615 0.8152 0.8225 0.7152 0.8058 0.7474 0.7285 0.7255 hom 4166.71 120 1 175299301 . T C 4166.71 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9997;MQ=59.65;MQ0=0;QD=34.72;VQSLOD=9.6403;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,119:120:99:4166,328,0 1 175324651 175324651 A G exonic TNR synonymous SNV TNR:NM_001328635:exon17:c.T2238C:p.D746D,TNR:NM_003285:exon17:c.T3237C:p.D1079D 0.67 0.52 0.71 0.79 0.68 0.68 0.6892 0.5439 0.7612 0.8223 0.7132 0.6822 0.6817 0.6794 0.64 0.54 0.69 0.71 0.66 rs2228359 COSM4143050 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6963 0.5339 0.7576 0.6721 0.8178 0.7237 0.6835 0.6775 0.6800 0.6586 0.5344 0.7375 0.6457 0.8127 0.7251 0.6924 0.6878 hom 3894.91 136 1 175324651 . A G 3894.91 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2319;MQ=58.42;MQ0=0;QD=28.64;VQSLOD=7.1155;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:3894,331,0 1 175335234 175335234 C T exonic TNR synonymous SNV TNR:NM_001328635:exon11:c.G1095A:p.S365S,TNR:NM_003285:exon11:c.G2094A:p.S698S 0.17 0.15 0.2 0.1 0.24 0.15 0.2131 0.1396 0.1840 0.0946 0.2677 0.2444 0.2556 0.1906 0.21 0.14 0.24 0.21 0.2 rs1385541 COSM3750631 1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2143 0.1385 0.1897 0.2448 0.0909 0.2669 0.2454 0.2230 0.1866 0.2028 0.1379 0.1711 0.2252 0.0807 0.2533 0.2405 0.2413 het 1233.36 103 1 175335234 . C T 1233.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.895;DP=103;Dels=0.00;FS=1.728;HRun=0;HaplotypeScore=0.9894;MQ=59.23;MQ0=0;MQRankSum=-0.152;QD=11.97;ReadPosRankSum=-1.280;VQSLOD=6.5516;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,44:103:99:1263,0,1500 1 175348723 175348723 C T exonic TNR nonsynonymous SNV TNR:NM_001328635:exon9:c.G929A:p.R310K,TNR:NM_003285:exon9:c.G1928A:p.R643K 0.7 0.65 0.71 0.81 0.65 0.69 0.6728 0.6652 0.7723 0.8223 0.6048 0.6437 0.6233 0.6768 0.66 0.68 0.65 0.66 0.66 rs859427 COSM4143052 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.009 0.133 B 0.003 0.360 N 0.984 0.248 P 0.67 0.164 N 0.37 0.577 T 0.91 0.016 N 0.041 0.021 -0.920 0.455 T 0.000 0.000 T . . . 1.955 0.296 15.93 0.554 0.052 0.361 0.252 N c -0.860 -0.686 0.000 0.057 0.549 0.223 0 2.83 0.320 2.193 0.420 -0.271 0.086 0.994 0.380 0.831 0.347 2.821 0.051 Fibronectin type III|Immunoglobulin-like fold . . 0.6746 0.6598 0.7577 0.6026 0.8257 0.6073 0.6489 0.6664 0.6725 0.6668 0.6630 0.7709 0.6 0.8352 0.6162 0.6589 0.6547 het 1180.11 83 1 175348723 . C T 1180.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.824;DP=83;Dels=0.00;FS=9.267;HRun=1;HaplotypeScore=0.0000;MQ=58.91;MQ0=0;MQRankSum=0.069;QD=14.22;ReadPosRankSum=1.135;VQSLOD=4.7748;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,47:83:99:1210,0,990 1 175355391 175355391 A G exonic TNR synonymous SNV TNR:NM_001328635:exon8:c.T555C:p.T185T,TNR:NM_003285:exon8:c.T1554C:p.T518T 0.83 0.8 0.86 0.89 0.77 0.85 0.8141 0.8154 0.8881 0.9041 0.7919 0.7878 0.7696 0.8324 0.8 0.82 0.79 0.79 0.83 rs859437 COSM4143053 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8132 0.8107 0.8803 0.7598 0.9030 0.7897 0.7858 0.8122 0.8238 0.8106 0.8177 0.8783 0.7748 0.9091 0.7966 0.7972 0.7933 het 1149.17 93 1 175355391 . A G 1149.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.820;DP=93;Dels=0.00;FS=6.745;HRun=1;HaplotypeScore=0.9995;MQ=59.60;MQ0=0;MQRankSum=-1.435;QD=12.36;ReadPosRankSum=-0.304;VQSLOD=4.8155;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,44:93:99:1179,0,1300 1 175375469 175375469 C A exonic TNR nonsynonymous SNV TNR:NM_003285:exon3:c.G382T:p.A128S 0.29 0.088 0.36 0.52 0.25 0.3 0.2933 0.1224 0.4867 0.5226 0.3038 0.2576 0.2511 0.2879 0.22 0.13 0.27 0.32 0.28 rs2239819 COSM3750632 1(large_intestine) . . . . . . . . . . . 0.318 0.136 T 0.01 0.144 B 0.007 0.121 B 0.000 0.497 N 1 0.090 P -0.585 0.023 N 1.34 0.348 T -1.1 0.285 N 0.074 0.203 -0.952 0.406 T 0.000 0.000 T . . . -0.887 0.036 0.027 0.390 0.027 0.526 0.289 D c -0.221 -0.236 0.182 0.179 0.487 0.133 0 2.0 0.254 3.237 0.508 -0.373 0.066 1.000 0.715 0.009 0.108 8.009 0.293 . . . 0.3045 0.1177 0.4681 0.1386 0.5175 0.3239 0.2660 0.2648 0.2848 0.2631 0.1187 0.4438 0.1433 0.5299 0.3353 0.2909 0.3098 het 2723.62 217 1 175375469 . C A 2723.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.839;DP=217;Dels=0.00;FS=8.884;HRun=1;HaplotypeScore=8.2926;MQ=58.85;MQ0=0;MQRankSum=0.188;QD=12.55;ReadPosRankSum=-0.482;VQSLOD=4.1072;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,104:217:99:2754,0,3263 1 175375683 175375683 T C exonic TNR synonymous SNV TNR:NM_003285:exon3:c.A168G:p.T56T 0.73 0.76 0.78 0.82 0.63 0.65 0.6758 0.7554 0.8364 0.8393 0.5943 0.6297 0.6200 0.6493 0.68 0.76 0.64 0.72 0.66 rs859399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6783 0.7521 0.8171 0.5785 0.8381 0.6014 0.6354 0.6644 0.6464 0.6856 0.7523 0.8110 0.5927 0.8424 0.6095 0.6449 0.6496 het 3057.60 250 1 175375683 . T C 3057.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.260;DP=250;DS;Dels=0.00;FS=0.991;HRun=0;HaplotypeScore=3.5116;MQ=59.55;MQ0=0;MQRankSum=-0.090;QD=12.23;ReadPosRankSum=-0.278;VQSLOD=6.4151;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:134,116:250:99:3088,0,3830 1 175375802 175375802 T C exonic TNR nonsynonymous SNV TNR:NM_003285:exon3:c.A49G:p.I17V 0.72 0.74 0.78 0.82 0.63 0.65 0.6745 0.7392 0.8360 0.8395 0.5945 0.6299 0.6200 0.6493 0.68 0.74 0.64 0.71 0.66 rs859398 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.006 0.323 N 1 0.090 P -0.11 0.046 N 1.84 0.247 T -0.1 0.085 N 0.052 0.034 -0.970 0.372 T 0.000 0.000 T . . . -0.532 0.054 0.183 0.536 0.049 0.002 0.009 N c -1.034 -0.818 0.003 0.097 0.487 0.133 0 3.69 0.413 0.399 0.205 0.069 0.176 0.098 0.225 0.957 0.436 5.502 0.160 . . . 0.6772 0.7369 0.8165 0.5784 0.8382 0.6014 0.6354 0.6641 0.6462 0.6811 0.7370 0.8091 0.5927 0.8426 0.6091 0.6448 0.6480 het 3112.53 249 1 175375802 . T C 3112.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.369;DP=249;DS;Dels=0.00;FS=3.648;HRun=0;HaplotypeScore=4.4738;MQ=59.57;MQ0=0;MQRankSum=0.475;QD=12.50;ReadPosRankSum=0.471;VQSLOD=5.5346;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:124,125:249:99:3143,0,3498 1 176833497 176833497 G C exonic ASTN1 nonsynonymous SNV ASTN1:NM_004319:exon23:c.C3808G:p.R1270G 0.042 0.0053 0.058 0.031 0.11 0.021 0.0616 0.0170 0.0336 0.0374 0.0783 0.0841 0.0727 0.0237 0.064 0.017 0.088 0.011 0.033 rs12118933 . . . . . . . . . . . . . 0.006 0.614 D 0.369 0.323 B 0.182 0.343 B 0.000 0.513 D 0.000 0.810 P 0.345 0.112 N 2.84 0.107 T -1.43 0.352 N 0.426 0.482 -0.986 0.336 T 0.001 0.003 T . . . 4.530 0.607 24.3 0.998 0.851 0.979 0.780 D c 0.147 0.289 1.000 0.747 0.615 0.372 0 4.61 0.566 7.259 0.776 0.108 0.203 1.000 0.715 0.995 0.604 17.415 0.873 . . . 0.0611 0.0142 0.0407 0.0371 0.0384 0.0753 0.0860 0.0655 0.0254 0.0623 0.0188 0.0442 0.0464 0.0414 0.0882 0.0837 0.0845 het 2693.51 195 1 176833497 . G C 2693.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.294;DP=195;Dels=0.00;FS=1.123;HRun=3;HaplotypeScore=1.7675;MQ=59.29;MQ0=0;MQRankSum=-0.100;QD=13.81;ReadPosRankSum=-0.243;VQSLOD=6.0680;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,104:195:99:2724,0,2218 1 176863836 176863836 G C exonic ASTN1 nonsynonymous SNV ASTN1:NM_001286164:exon17:c.C2802G:p.H934Q,ASTN1:NM_004319:exon17:c.C2802G:p.H934Q,ASTN1:NM_207108:exon17:c.C2802G:p.H934Q 0.83 0.86 0.72 0.8 0.86 0.86 0.8282 0.8695 0.7062 0.7917 0.7867 0.8431 0.8304 0.8626 0.85 0.87 0.84 0.87 0.83 rs2281180 . . . . . . . . . . . . . 0.766 0.035 T 0.0 0.026 B 0.0 0.013 B 0.001 0.425 N 1.000 0.090 P -1.15 0.009 N 1.66 0.275 T 0.88 0.017 N 0.142 0.166 -1.012 0.264 T 0.000 0.000 T . . . 2.008 0.302 16.26 0.587 0.059 0.288 0.234 N c -0.832 -0.586 0.030 0.139 0.615 0.372 0 2.28 0.275 0.599 0.236 -0.331 0.074 0.999 0.424 0.997 0.653 3.169 0.061 Membrane attack complex component/perforin (MACPF) domain . . 0.8202 0.8713 0.7155 0.8503 0.7935 0.7819 0.8419 0.8383 0.8606 0.8338 0.8775 0.7410 0.8874 0.7867 0.7824 0.8309 0.8139 het 2535.21 165 1 176863836 . G C 2535.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.837;DP=165;Dels=0.00;FS=5.232;HRun=0;HaplotypeScore=3.7366;MQ=59.29;MQ0=0;MQRankSum=0.655;QD=15.36;ReadPosRankSum=1.637;VQSLOD=4.1621;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,93:165:99:2565,0,2036 1 176863842 176863842 C T exonic ASTN1 synonymous SNV ASTN1:NM_001286164:exon17:c.G2796A:p.E932E,ASTN1:NM_004319:exon17:c.G2796A:p.E932E,ASTN1:NM_207108:exon17:c.G2796A:p.E932E 0.082 0.15 0.072 0.03 0.11 0.019 0.0749 0.1615 0.0407 0.0369 0.0782 0.0847 0.0771 0.0232 0.11 0.16 0.087 0.054 0.049 rs6680908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0717 0.1645 0.0482 0.0370 0.0378 0.0752 0.0864 0.0704 0.0253 0.1054 0.1688 0.0585 0.0464 0.0414 0.0884 0.0843 0.0888 het 2520.42 167 1 176863842 . C T 2520.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.682;DP=167;Dels=0.00;FS=6.398;HRun=1;HaplotypeScore=5.6540;MQ=59.30;MQ0=0;MQRankSum=-0.614;QD=15.09;ReadPosRankSum=2.126;VQSLOD=3.2293;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,91:167:99:2550,0,2127 1 176863867 176863867 T C exonic ASTN1 nonsynonymous SNV ASTN1:NM_001286164:exon17:c.A2771G:p.H924R,ASTN1:NM_004319:exon17:c.A2771G:p.H924R,ASTN1:NM_207108:exon17:c.A2771G:p.H924R 0.83 0.86 0.72 0.8 0.86 0.86 0.8268 0.8694 0.7059 0.7911 0.7836 0.8416 0.8293 0.8609 0.85 0.87 0.83 0.87 0.8 rs2228956 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.998 0.222 P -0.83 0.015 N 1.65 0.276 T 1.16 0.012 N 0.092 0.140 -0.971 0.369 T 0.000 0.000 T . . . 1.137 0.203 11.41 0.555 0.052 0.088 0.145 N c -0.593 -0.301 1.000 0.467 0.615 0.372 0 5.26 0.734 4.449 0.595 0.069 0.176 1.000 0.715 0.997 0.653 14.087 0.643 Membrane attack complex component/perforin (MACPF) domain . . 0.8190 0.8712 0.7154 0.8503 0.7935 0.7784 0.8403 0.8369 0.8592 0.8317 0.8778 0.7410 0.8874 0.7864 0.7798 0.8272 0.8122 het 2910.50 207 1 176863867 . T C 2910.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.573;DP=207;Dels=0.00;FS=6.038;HRun=0;HaplotypeScore=7.7754;MQ=59.19;MQ0=0;MQRankSum=0.223;QD=14.06;ReadPosRankSum=-0.778;VQSLOD=4.5735;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:100,106:207:99:2940,0,2590 1 176992553 176992553 A G exonic ASTN1 synonymous SNV ASTN1:NM_001286164:exon7:c.T1425C:p.C475C,ASTN1:NM_004319:exon7:c.T1425C:p.C475C,ASTN1:NM_207108:exon7:c.T1425C:p.C475C 0.51 0.79 0.5 0.21 0.59 0.39 0.6051 0.7517 0.5435 0.2881 0.6895 0.6398 0.6140 0.5060 0.64 0.73 0.6 0.56 0.37 rs172917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5367 0.7369 0.4490 0.5596 0.1832 0.6374 0.5933 0.5457 0.4626 0.6215 0.7450 0.4511 0.6167 0.1821 0.6372 0.6050 0.5969 het 149.04 17 1 176992553 . A G 149.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.391;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.90;MQ0=0;MQRankSum=0.146;QD=8.77;ReadPosRankSum=-0.244;VQSLOD=6.8143;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,7:17:99:179,0,308 1 177001896 177001896 C G exonic ASTN1 synonymous SNV ASTN1:NM_001286164:exon3:c.G561C:p.P187P,ASTN1:NM_004319:exon3:c.G561C:p.P187P,ASTN1:NM_207108:exon3:c.G561C:p.P187P 0.15 0.027 0.21 0.26 0.15 0.16 0.1704 0.0491 0.2549 0.2485 0.2381 0.1619 0.1507 0.1532 0.13 0.052 0.16 0.13 0.15 rs2076069 COSM3750637;COSM4786031 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1774 0.0457 0.2437 0.1123 0.2539 0.2427 0.1645 0.1559 0.1520 0.1524 0.0470 0.1890 0.0762 0.2494 0.2368 0.1801 0.1980 het 1234.70 90 1 177001896 . C G 1234.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.935;DP=90;Dels=0.00;FS=0.797;HRun=3;HaplotypeScore=1.6553;MQ=59.79;MQ0=0;MQRankSum=-0.375;QD=13.72;ReadPosRankSum=-0.553;VQSLOD=5.8655;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,46:90:99:1265,0,1058 1 177247854 177247854 C G exonic BRINP2 nonsynonymous SNV BRINP2:NM_021165:exon7:c.C1168G:p.L390V 0.26 0.4 0.21 0.21 0.22 0.22 0.2178 0.3822 0.1927 0.1774 0.1491 0.2030 0.2329 0.2398 0.27 0.38 0.21 0.23 0.22 rs3176443 COSM4143065 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.001 0.399 N 1 0.090 P -1.59 0.004 N 2.74 0.117 T 1.24 0.010 N 0.071 0.059 -0.911 0.468 T 0.000 0.000 T . . . 0.072 0.101 3.310 0.688 0.085 0.099 0.154 N c -0.970 -0.703 0.872 0.254 0.622 0.393 0 3.17 0.354 1.437 0.344 0.073 0.181 0.943 0.325 0.986 0.517 8.709 0.334 . . . 0.2142 0.3884 0.1962 0.2546 0.1792 0.1463 0.2032 0.2280 0.2406 0.2473 0.3997 0.2273 0.2417 0.1751 0.1468 0.1954 0.1806 het 2657.10 220 1 177247854 . C G 2657.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.422;DP=220;DS;Dels=0.00;FS=0.570;HRun=0;HaplotypeScore=4.6293;MQ=59.00;MQ0=0;MQRankSum=-0.213;QD=12.08;ReadPosRankSum=0.230;VQSLOD=5.9108;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,102:220:99:2687,0,3468 1 177902387 177902387 C A exonic SEC16B nonsynonymous SNV SEC16B:NM_033127:exon22:c.G2785T:p.A929S 0.23 0.27 0.26 0.11 0.26 0.24 0.3201 0.3627 0.3663 0.1859 0.2856 0.3359 0.2869 0.2817 0.25 0.28 0.23 0.23 . rs61745560 COSM3997083 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.104 0.197 N 1 0.090 P -1.83 0.003 N 2.62 0.130 T 0.07 0.061 N 0.028 0.009 -0.940 0.427 T 0.000 0.000 T . . . 1.028 0.192 10.82 0.721 0.095 0.002 0.012 N c -1.253 -1.088 0.010 0.120 0.615 0.372 0 2.68 0.307 0.822 0.268 0.165 0.245 0.048 0.211 0.019 0.132 4.940 0.132 . . . 0.2299 0.2838 0.2210 0.2807 0.1076 0.2131 0.2408 0.2393 0.2393 0.2563 0.2912 0.2446 0.2649 0.1106 0.2241 0.2585 0.2761 het 423.87 32 1 177902387 . C A 423.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.285;DP=32;Dels=0.00;FS=6.903;HRun=0;HaplotypeScore=1.6208;MQ=59.28;MQ0=0;MQRankSum=0.427;QD=13.25;ReadPosRankSum=-0.728;VQSLOD=4.9716;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,20:32:99:454,0,283 1 177902725 177902725 C T exonic SEC16B nonsynonymous SNV SEC16B:NM_033127:exon21:c.G2618A:p.S873N 0.22 0.24 0.26 0.11 0.26 0.24 0.2342 0.2626 0.2343 0.1094 0.2141 0.2462 0.2194 0.2427 0.24 0.26 0.24 0.24 . rs3813649 COSM3997084 1(bone);1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . 0.474 0.084 T 0.0 0.026 B 0.0 0.013 B 0.000 0.005 N 1 0.090 P -0.55 0.024 N 2.54 0.139 T -0.26 0.112 N 0.002 0.000 -1.013 0.259 T 0.000 0.000 T . . . -0.164 0.079 1.300 0.634 0.070 0.015 0.049 N c -2.494 -2.569 1.000 0.747 0.490 0.173 1 -10.2 0.003 -1.488 0.024 -3.406 0.001 0.000 0.063 0.000 0.016 2.855 0.052 . . . 0.2344 0.2633 0.2255 0.2856 0.1116 0.2168 0.2480 0.2436 0.2445 0.2482 0.2637 0.2434 0.2649 0.1104 0.2238 0.2580 0.2739 het 594.70 83 1 177902725 . C T 594.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.864;DP=83;Dels=0.00;FS=0.906;HRun=1;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;MQRankSum=0.005;QD=7.17;ReadPosRankSum=-0.821;VQSLOD=5.7414;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,27:83:99:625,0,1504 1 177902753 177902753 G C exonic SEC16B nonsynonymous SNV SEC16B:NM_033127:exon21:c.C2590G:p.P864A 0.41 0.46 0.44 0.28 0.45 0.4 0.4236 0.4700 0.4325 0.3267 0.3867 0.4383 0.3842 0.3977 0.44 0.46 0.43 0.38 . rs591120 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.264 0.152 N 1 0.090 P -1.845 0.003 N 2.72 0.120 T 1.17 0.011 N 0.014 0.002 -0.941 0.425 T 0.000 0.000 T . . . 0.268 0.120 5.381 0.471 0.038 0.004 0.019 N c -1.488 -1.352 0.583 0.216 0.560 0.301 0 2.73 0.311 -0.280 0.084 -0.385 0.065 0.000 0.063 0.001 0.043 4.338 0.105 . . . 0.4224 0.4704 0.4318 0.4156 0.3180 0.3915 0.4427 0.4185 0.3989 0.4386 0.4755 0.4581 0.4172 0.3121 0.3942 0.4404 0.4418 het 753.09 96 1 177902753 . G C 753.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.203;DP=96;Dels=0.00;FS=1.765;HRun=0;HaplotypeScore=0.8941;MQ=59.15;MQ0=0;MQRankSum=2.281;QD=7.84;ReadPosRankSum=-0.913;VQSLOD=5.1836;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,32:96:99:783,0,1652 1 177905469 177905469 C A exonic SEC16B nonsynonymous SNV SEC16B:NM_033127:exon20:c.G2535T:p.Q845H 0.2 0.1 0.23 0.17 0.26 0.25 0.2628 0.1555 0.2743 0.2085 0.2771 0.2775 0.2610 0.2802 0.2 0.12 0.23 0.22 . rs7522194 . . . . . . . . . . . . . 0.022 0.486 D 0.996 0.670 D 0.804 0.565 P 0.338 0.140 N 1 0.090 P 2.045 0.562 M 2.45 0.150 T -1.38 0.342 N 0.099 0.101 -1.022 0.231 T 0.000 0.000 T . . . 1.904 0.290 15.62 0.966 0.298 0.151 0.185 N c -0.337 -0.499 0.020 0.132 0.615 0.372 0 2.97 0.333 1.369 0.336 0.077 0.185 0.054 0.214 0.017 0.128 7.955 0.290 . . . 0.2277 0.1261 0.2153 0.2721 0.1767 0.2415 0.2410 0.2412 0.2457 0.2139 0.1276 0.2243 0.24 0.1735 0.2490 0.2554 0.2725 het 246.15 25 1 177905469 . C A 246.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.969;DP=25;Dels=0.00;FS=3.619;HRun=0;HaplotypeScore=0.0000;MQ=56.39;MQ0=0;MQRankSum=-0.356;QD=9.85;ReadPosRankSum=0.411;VQSLOD=3.6394;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,11:25:99:276,0,412 1 177923440 177923440 T G exonic SEC16B synonymous SNV SEC16B:NM_033127:exon11:c.A1437C:p.P479P 0.17 0.18 0.2 0.029 0.23 0.21 0.3139 0.2725 0.4233 0.0604 0.3596 0.3554 0.3067 0.2353 0.22 0.18 0.23 0.18 . rs12129817 COSM3750638 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2114 0.1919 0.1989 0.2517 0.0203 0.2422 0.2382 0.2230 0.2093 0.2135 0.1926 0.1850 0.2285 0.0136 0.2447 0.2409 0.2193 het 308.52 19 1 177923440 . T G 308.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.447;DP=19;Dels=0.00;FS=2.077;HRun=3;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;MQRankSum=-1.184;QD=16.24;ReadPosRankSum=0.044;VQSLOD=5.4117;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,13:19:99:339,0,116 1 177929987 177929987 T C exonic SEC16B nonsynonymous SNV SEC16B:NM_033127:exon7:c.A875G:p.H292R 0.81 0.89 0.79 0.81 0.75 0.78 0.7723 0.8663 0.7752 0.8020 0.7121 0.7564 0.7662 0.7875 0.81 0.87 0.77 0.79 . rs12040910 COSM4143067 1(thyroid) . . . . . . . . . . . 0.38 0.120 T 0.0 0.026 B 0.0 0.040 B 0.670 0.103 N 1 0.090 P -0.6 0.022 N 1.01 0.411 T 1.8 0.005 N 0.052 0.034 -1.024 0.224 T 0.000 0.000 T . . . 0.960 0.186 10.43 0.758 0.108 0.006 0.026 N c -1.025 -0.905 0.613 0.218 0.554 0.283 0 2.46 0.289 0.957 0.286 -0.328 0.075 0.005 0.169 0.303 0.238 6.825 0.229 Sec16\x2c central conserved domain . . 0.7679 0.8672 0.7823 0.6958 0.8004 0.7022 0.7609 0.7505 0.7832 0.7800 0.8675 0.7864 0.7616 0.8035 0.7029 0.7479 0.7281 het 924.34 68 1 177929987 . T C 924.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.135;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.80;MQ0=0;MQRankSum=0.129;QD=13.59;ReadPosRankSum=-0.006;VQSLOD=6.1732;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,34:68:99:954,0,887 1 178489978 178489978 T G exonic TEX35 nonsynonymous SNV TEX35:NM_001170722:exon7:c.T536G:p.L179R,TEX35:NM_001170723:exon7:c.T512G:p.L171R,TEX35:NM_001170724:exon7:c.T512G:p.L171R,TEX35:NM_032126:exon7:c.T512G:p.L171R 0.37 0.22 0.48 0.41 0.45 0.36 0.4016 0.2579 0.4263 0.3970 0.4547 0.4154 0.4346 0.3987 0.37 0.28 0.41 0.48 0.42 rs3813636 COSM3930519;COSM3930522;COSM3930521;COSM3930524;COSM3930523;COSM3930520 1(urinary_tract);1(thyroid) . . . . . . . . . . . 0.045 0.501 D 0.95 0.519 P 0.648 0.523 P 0.732 0.064 N 1 0.090 P 0.895 0.225 L 1.74 0.263 T -3.22 0.698 D 0.297 0.357 -0.932 0.438 T 0.000 0.000 T . . . 3.674 0.499 23.3 0.993 0.582 0.039 0.092 N c -0.376 -0.569 0.608 0.218 0.554 0.283 0 1.82 0.241 0.082 0.146 1.011 0.635 0.004 0.165 0.087 0.184 5.125 0.141 . ENSG00000188585.6|ENSG00000240021.5 Nerve_Tibial|Testis 0.4084 0.2517 0.4319 0.4022 0.3895 0.4596 0.4191 0.4313 0.3932 0.3751 0.2557 0.4294 0.4007 0.3826 0.4536 0.4187 0.4236 het 823.60 80 1 178489978 . T G 823.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DP=80;Dels=0.00;FS=2.217;HRun=2;HaplotypeScore=0.8941;MQ=58.77;MQ0=0;MQRankSum=0.880;QD=10.30;ReadPosRankSum=0.204;VQSLOD=6.4442;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,33:80:99:854,0,1365 1 179055020 179055020 C T exonic TOR3A synonymous SNV TOR3A:NM_022371:exon3:c.C631T:p.L211L 0.13 0.11 0.066 0.26 0.14 0.074 0.1271 0.1095 0.0706 0.2469 0.1701 0.1297 0.1272 0.0874 0.12 0.11 0.12 0.13 0.2 rs2296376 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1278 0.1084 0.0785 0.1300 0.2490 0.1713 0.1284 0.1265 0.0894 0.1344 0.1080 0.0979 0.1391 0.2417 0.1634 0.1321 0.1538 hom 2427.72 74 1 179055020 . C T 2427.72 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.69;MQ0=0;QD=32.81;VQSLOD=9.8460;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2461,193,0 1 179310262 179310262 C T exonic SOAT1 synonymous SNV SOAT1:NM_001252511:exon6:c.C423T:p.P141P,SOAT1:NM_001252512:exon6:c.C402T:p.P134P,SOAT1:NM_003101:exon7:c.C597T:p.P199P 0.28 0.14 0.24 0.48 0.24 0.35 0.2415 0.1336 0.2684 0.4767 0.2183 0.2067 0.2577 0.3168 0.19 0.14 0.21 0.27 0.26 rs11576517 COSM146697 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2465 0.1339 0.2620 0.1931 0.4791 0.2167 0.2119 0.2400 0.3200 0.2070 0.1411 0.2656 0.2086 0.4544 0.2168 0.2128 0.2149 het 2376.74 249 1 179310262 . C T 2376.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.195;DP=249;DS;Dels=0.00;FS=0.518;HRun=1;HaplotypeScore=1.8650;MQ=58.65;MQ0=0;MQRankSum=0.564;QD=9.55;ReadPosRankSum=1.791;VQSLOD=5.8605;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:157,92:249:99:2407,0,4256 1 179414105 179414105 A C exonic AXDND1 nonsynonymous SNV AXDND1:NM_144696:exon16:c.A1564C:p.I522L 0.21 0.29 0.24 0.053 0.28 0.19 0.2849 0.2970 0.2633 0.0460 0.3807 0.3237 0.2639 0.2233 0.3 0.28 0.31 0.17 0.31 rs11577579 COSM146698 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.495 0.214 T 0.0 0.026 B 0.001 0.040 B 0.095 0.201 N 1.000 0.208 P 0.895 0.225 L 2.27 0.429 T -0.02 0.073 N 0.086 0.081 -0.936 0.432 T 0.000 0.000 T . . . -0.428 0.060 0.331 0.824 0.137 0.113 0.163 N c -1.133 -1.117 0.000 0.012 0.487 0.133 0 0.62 0.167 0.035 0.136 -0.569 0.046 0.142 0.233 0.005 0.090 7.962 0.291 . ENSG00000162779.16|ENSG00000162782.11|ENSG00000162782.11|ENSG00000162782.11|ENSG00000162779.16|ENSG00000261250.1|ENSG00000162782.11|ENSG00000162782.11|ENSG00000162779.16|ENSG00000186283.9|ENSG00000162779.16|ENSG00000162779.16|ENSG00000162782.11|ENSG00000057252.8|ENSG00000143322.15 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Colon_Transverse|Colon_Transverse|Lung|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2817 0.2949 0.2634 0.3232 0.0455 0.3799 0.3164 0.2915 0.2152 0.3059 0.2923 0.2590 0.2867 0.0328 0.3840 0.3258 0.3439 hom 1439.27 53 1 179414105 . A C 1439.27 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.750;DP=53;Dels=0.00;FS=5.315;HRun=0;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;MQRankSum=-0.957;QD=27.16;ReadPosRankSum=0.210;VQSLOD=3.7661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,51:53:80.38:1472,80,0 1 179520506 179520506 G A exonic NPHS2 synonymous SNV NPHS2:NM_001297575:exon7:c.C750T:p.A250A,NPHS2:NM_014625:exon8:c.C954T:p.A318A 0.59 0.59 0.63 0.49 0.62 0.62 0.6192 0.5972 0.6658 0.4806 0.6241 0.6358 0.6112 0.6042 0.62 0.6 0.63 0.56 0.62 rs1410592 COSM146700 1(stomach) Benign|Likely benign not_specified|Steroid-resistant_nephrotic_syndrome RCV000243457.1|RCV000289839.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0012588:C0403397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6197 0.6013 0.6667 0.6606 0.4724 0.6234 0.6310 0.6200 0.6031 0.6105 0.6033 0.6502 0.6433 0.4371 0.6166 0.6280 0.6273 hom 4199.80 125 1 179520506 . G A 4199.80 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.85;MQ0=0;QD=33.60;VQSLOD=9.5621;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:4199,328,0 1 179631242 179631242 G A exonic TDRD5 nonsynonymous SNV TDRD5:NM_001199092:exon11:c.G829A:p.E277K,TDRD5:NM_001199091:exon14:c.G2164A:p.E722K,TDRD5:NM_001349923:exon14:c.G2164A:p.E722K,TDRD5:NM_173533:exon14:c.G2164A:p.E722K,TDRD5:NM_001199085:exon15:c.G2326A:p.E776K,TDRD5:NM_001199089:exon15:c.G2326A:p.E776K 0.1 0.013 0.098 0.046 0.21 0.17 0.1981 0.0435 0.1004 0.0380 0.2930 0.2487 0.2122 0.2068 0.17 0.044 0.24 0.098 0.18 rs35448215 COSM146701;COSM4143078 1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.026 0.473 D 0.374 0.556 B 0.094 0.485 B 0.141 0.183 N 0.971 0.257 P 2.005 0.547 M 2.22 0.389 T -1.39 0.344 N 0.157 0.232 -1.053 0.136 T 0.000 0.000 T . . . 3.683 0.500 23.3 0.999 0.941 0.863 0.453 D c 0.248 0.308 0.000 0.057 0.554 0.246 0 4.49 0.540 2.586 0.455 1.040 0.660 1.000 0.715 0.990 0.544 9.396 0.374 . ENSG00000162782.11|ENSG00000162779.16|ENSG00000261250.1|ENSG00000227141.2|ENSG00000162782.11|ENSG00000162779.16|ENSG00000143340.6|ENSG00000057252.8 Artery_Tibial|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Thyroid|Thyroid|Whole_Blood 0.1993 0.0366 0.1005 0.3154 0.0370 0.2924 0.2378 0.2143 0.1771 0.1804 0.0407 0.1146 0.2616 0.0328 0.3007 0.2492 0.2198 hom 3858.96 128 1 179631242 . G A 3858.96 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3609;MQ=59.30;MQ0=0;QD=30.15;VQSLOD=8.3999;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:3858,304,0 1 179852074 179852074 T C exonic TOR1AIP1 nonsynonymous SNV TOR1AIP1:NM_001267578:exon1:c.T437C:p.M146T,TOR1AIP1:NM_015602:exon1:c.T437C:p.M146T 0.61 0.38 0.68 0.78 0.61 0.69 0.6503 0.4441 0.7847 0.7640 0.5679 0.6437 0.5943 0.6743 0.57 0.44 0.63 0.61 0.5 rs1281378 COSM4143081 1(thyroid) Benign not_specified RCV000242478.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.441 0.126 N 1 0.090 P -1.325 0.007 N 2.05 0.207 T 1.38 0.010 N 0.014 0.213 -1.002 0.293 T 0.000 0.000 T . . . -2.353 0.004 0.001 0.655 0.076 0.003 0.017 N c -1.687 -1.613 1.0 0.983 0.442 0.072 0 -1.54 0.081 0.476 0.217 0.010 0.139 0.014 0.188 0.006 0.095 3.635 0.076 . ENSG00000261831.2 Testis 0.6488 0.4233 0.7670 0.6591 0.7600 0.5697 0.6355 0.6469 0.6690 0.5691 0.4242 0.7428 0.6733 0.7515 0.5654 0.6202 0.6082 het 519.53 35 1 179852074 . T C 519.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.826;DP=35;Dels=0.00;FS=1.619;HRun=0;HaplotypeScore=2.5407;MQ=59.34;MQ0=0;MQRankSum=-0.393;QD=14.84;ReadPosRankSum=-0.427;VQSLOD=6.5361;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,22:35:99:550,0,369 1 179876988 179876988 C G exonic TOR1AIP1 nonsynonymous SNV TOR1AIP1:NM_001267578:exon7:c.C830G:p.P277R,TOR1AIP1:NM_015602:exon7:c.C827G:p.P276R 0.58 0.3 0.67 0.78 0.61 0.67 0.6329 0.3536 0.7770 0.7596 0.5556 0.6346 0.5896 0.6676 0.54 0.37 0.63 0.56 0.52 rs609521 . . Benign not_specified RCV000247762.1 MedGen CN169374 . . . . . . 0.129 0.319 T 0.175 0.434 B 0.104 0.402 B 0.872 0.072 N 1 0.090 P 2.215 0.627 M 0.96 0.429 T -2.6 0.559 D 0.104 0.235 -0.981 0.348 T 0.000 0.000 T . . . 1.038 0.193 10.87 0.939 0.233 0.195 0.205 N c -0.459 -0.545 0.049 0.148 0.732 0.924 0 3.81 0.429 1.732 0.375 0.928 0.438 0.003 0.159 0.011 0.114 10.068 0.413 . ENSG00000143337.14|ENSG00000169905.8|ENSG00000261831.2 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Testis 0.6311 0.3364 0.7580 0.6535 0.7456 0.5622 0.6254 0.6329 0.6501 0.5469 0.3483 0.7480 0.6701 0.7497 0.5733 0.6177 0.6133 het 1108.83 101 1 179876988 . C G 1108.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.708;DP=101;Dels=0.00;FS=1.612;HRun=0;HaplotypeScore=1.9982;MQ=56.01;MQ0=0;MQRankSum=0.092;QD=10.98;ReadPosRankSum=0.650;VQSLOD=3.1068;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,47:101:99:1139,0,1358 1 179887125 179887125 G A exonic TOR1AIP1 synonymous SNV TOR1AIP1:NM_001267578:exon10:c.G1506A:p.A502A,TOR1AIP1:NM_015602:exon10:c.G1503A:p.A501A 0.92 0.84 0.95 0.91 0.95 0.96 0.9485 0.8754 0.9649 0.9008 0.9791 0.9579 0.9427 0.9580 0.93 0.87 0.95 0.91 0.93 rs627897 . . Benign not_specified RCV000250769.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9501 0.8750 0.9621 0.9575 0.8996 0.9795 0.9560 0.9535 0.9566 0.9340 0.8760 0.9475 0.9503 0.8954 0.9782 0.9586 0.9623 hom 3609.28 116 1 179887125 . G A 3609.28 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=58.95;MQ0=0;QD=31.11;VQSLOD=9.1073;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3609,280,0 1 180243524 180243524 A G exonic LHX4 nonsynonymous SNV LHX4:NM_033343:exon6:c.A983G:p.N328S 0.43 0.12 0.33 0.59 0.55 0.62 0.4850 0.1875 0.2390 0.5837 0.5661 0.5253 0.4890 0.5981 0.41 0.2 0.52 0.39 0.54 rs7536561 COSM3746684 1(pancreas);1(liver);1(thyroid);1(large_intestine) Benign|Benign not_specified|Combined_Pituitary_Hormone_Deficiency\x2c_Dominant RCV000242291.1|RCV000313852.1 MedGen|MedGen CN169374|CN239342 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.000 0.477 P -0.03 0.050 N -2.24 0.872 D -0.06 0.079 N 0.033 0.013 -0.956 0.399 T 0.000 0.000 T . . . -0.369 0.064 0.458 0.774 0.115 0.920 0.544 D c -0.548 -0.327 1.000 0.409 0.660 0.495 0 3.27 0.364 2.525 0.450 1.199 0.960 1.000 0.715 1.000 0.888 6.920 0.234 . ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000230124.2|ENSG00000121454.4|ENSG00000230124.2|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000230124.2|ENSG00000121454.4 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid 0.4835 0.1809 0.2550 0.5191 0.5897 0.5776 0.5227 0.4896 0.6011 0.4295 0.1917 0.2840 0.5878 0.6141 0.5750 0.5128 0.5297 het 3114.41 250 1 180243524 . A G 3114.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.864;DP=250;DS;Dels=0.00;FS=6.732;HRun=0;HaplotypeScore=6.9677;MQ=59.30;MQ0=0;MQRankSum=2.198;QD=12.46;ReadPosRankSum=2.156;VQSLOD=3.5977;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:140,110:250:99:3144,0,3814 1 180885430 180885430 T C exonic KIAA1614 nonsynonymous SNV KIAA1614:NM_020950:exon2:c.T191C:p.L64P 0.99 0.98 1. 1. 1. 1. 0.9984 0.9857 0.9991 1 0.9998 0.9995 0.9978 0.9992 1. 0.99 1. 0.99 0.98 rs10732273 COSM4143090 1(thyroid) . . . . . . . . . . . 0.076 0.342 T 0.0 0.026 B 0.0 0.013 B 0.016 0.014 N 1 0.090 P 0.625 0.159 N 3.35 0.060 T -1.53 0.372 N 0.031 0.012 -0.936 0.433 T 0.000 0.000 T . . . -1.163 0.026 0.008 0.594 0.061 0.007 0.029 N c -1.741 -1.841 1.000 0.747 0.554 0.283 0 -8.68 0.007 -0.943 0.040 -0.747 0.035 0.000 0.063 0.000 0.016 1.857 0.030 . . . 0.9986 0.9852 0.9989 0.9995 0.9999 0.9997 0.9995 0.9993 0.9993 0.9954 0.9861 0.9988 1 0.9994 1 0.9989 0.9980 hom 1543.42 46 1 180885430 . T C 1543.42 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;QD=33.55;VQSLOD=9.0204;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1576,126,0 1 180897569 180897569 C T exonic KIAA1614 synonymous SNV KIAA1614:NM_020950:exon4:c.C1065T:p.T355T 0.39 0.27 0.41 0.55 0.41 0.35 0.4171 0.2980 0.3992 0.5652 0.4560 0.4250 0.4444 0.3715 0.37 0.28 0.41 0.38 0.42 rs3747958 COSM3746685 2(breast);3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4151 0.2915 0.3972 0.4749 0.5668 0.4545 0.4148 0.4251 0.3620 0.3991 0.2921 0.3962 0.4669 0.5785 0.4539 0.4267 0.4192 het 3044.12 239 1 180897569 . C T 3044.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.245;DP=239;DS;Dels=0.00;FS=1.876;HRun=0;HaplotypeScore=8.6357;MQ=59.33;MQ0=0;MQRankSum=-0.182;QD=12.74;ReadPosRankSum=-1.658;VQSLOD=3.9015;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,114:239:99:3074,0,3082 1 180905263 180905263 C T exonic KIAA1614 nonsynonymous SNV KIAA1614:NM_020950:exon5:c.C2218T:p.R740W 0.023 0.003 0.069 . 0.036 0.03 0.0392 0.0087 0.1196 0 0.0215 0.0365 0.0346 0.0397 0.032 0.011 0.042 0.022 0.025 rs17302207 . . . . . . . . . . . . . 0.072 0.355 T 0.0 0.026 B 0.0 0.013 B 0.049 0.020 N 1 0.090 N 0.205 0.094 N 2.48 0.237 T -0.98 0.260 N 0.031 0.015 -1.034 0.193 T 0.009 0.031 T . . . 1.034 0.193 10.85 0.823 0.136 0.018 0.055 N c -1.639 -1.772 1.000 0.747 0.581 0.326 0 -8.65 0.008 -3.307 0.006 -1.190 0.016 0.000 0.063 0.000 0.016 5.955 0.184 Domain of unknown function DUF4685 . . 0.0425 0.0079 0.1162 0.0092 5.798e-05 0.0249 0.0394 0.0356 0.0394 0.0284 0.0065 0.0943 0.0099 0 0.0275 0.0410 0.0295 het 943.16 63 1 180905263 . C T 943.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.743;DP=63;Dels=0.00;FS=0.954;HRun=0;HaplotypeScore=0.9993;MQ=59.27;MQ0=0;MQRankSum=-0.708;QD=14.97;ReadPosRankSum=-0.859;VQSLOD=6.0390;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,31:63:99:973,0,897 1 180905352 180905352 C T exonic KIAA1614 synonymous SNV KIAA1614:NM_020950:exon5:c.C2307T:p.S769S 0.33 0.15 0.4 0.26 0.42 0.51 0.3930 0.1912 0.3870 0.2657 0.3893 0.4146 0.3764 0.4981 0.34 0.19 0.41 0.34 0.39 rs3795505 COSM5021297 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3963 0.1849 0.3909 0.3717 0.2601 0.3840 0.4239 0.4083 0.4978 0.3346 0.1941 0.3878 0.4238 0.2340 0.3818 0.4080 0.3918 het 1029.05 124 1 180905352 . C T 1029.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.671;DP=124;Dels=0.00;FS=6.279;HRun=0;HaplotypeScore=2.4441;MQ=59.40;MQ0=0;MQRankSum=-0.880;QD=8.30;ReadPosRankSum=-0.721;VQSLOD=4.3357;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,47:124:99:1059,0,2178 1 180905448 180905448 G T exonic KIAA1614 nonsynonymous SNV KIAA1614:NM_020950:exon5:c.G2403T:p.L801F 0.4 0.35 0.43 0.27 0.45 0.53 0.4349 0.3806 0.4149 0.2795 0.4116 0.4461 0.4120 0.5271 0.42 0.37 0.44 0.37 0.44 rs3795504 COSM4998020 1(bone);1(pancreas) . . . . . . . . . . . 0.264 0.164 T 0.0 0.026 B 0.001 0.040 B 0.897 0.086 N 1 0.090 P 0.425 0.126 N 0.97 0.425 T -0.71 0.202 N 0.017 0.003 -0.903 0.477 T 0.000 0.000 T . . . -0.665 0.047 0.087 0.186 0.006 0.023 0.065 N c -1.432 -1.394 1.000 0.747 0.646 0.450 0 2.38 0.283 0.028 0.134 -1.222 0.015 0.000 0.063 0.000 0.016 4.419 0.108 Domain of unknown function DUF4685 ENSG00000135835.6|ENSG00000135835.6 Cells_Transformed_fibroblasts|Heart_Left_Ventricle 0.4342 0.3780 0.4182 0.4107 0.2731 0.4063 0.4533 0.4476 0.5259 0.4078 0.3805 0.4200 0.46 0.2472 0.4048 0.4390 0.4255 het 1008.86 115 1 180905448 . G T 1008.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.774;DP=115;Dels=0.00;FS=1.756;HRun=2;HaplotypeScore=1.7319;MQ=59.13;MQ0=0;MQRankSum=1.731;QD=8.77;ReadPosRankSum=0.201;VQSLOD=5.9327;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,41:115:99:1039,0,2023 1 180913597 180913597 A G exonic KIAA1614 nonsynonymous SNV KIAA1614:NM_020950:exon8:c.A3232G:p.N1078D 1. 0.99 1. 1. 1. 1. 0.9988 0.9856 0.9995 1 1 1 1 1 1. 0.99 1. 0.98 1. rs2331995 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.241 0.157 N 1.000 0.090 P -2.33 0.001 N 2.89 0.166 T 3.24 0.001 N 0.002 0.000 -0.988 0.332 T 0.000 0.000 T . . . 1.019 0.192 10.77 0.733 0.099 0.047 0.103 N c -1.011 -0.719 1.000 0.747 0.534 0.214 0 4.94 0.645 2.378 0.437 0.104 0.200 0.986 0.359 0.966 0.452 9.512 0.381 . . . 0.9989 0.9838 0.9993 1 1 1 1.0000 0.9998 1 0.9955 0.9847 0.9988 1 1 1 0.9999 0.9990 hom 2364.72 86 1 180913597 . A G 2364.72 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=6.1397;MQ=59.03;MQ0=0;QD=27.50;VQSLOD=5.6008;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,85:86:99:2398,193,0 1 180953853 180953853 A G exonic STX6 synonymous SNV STX6:NM_001286210:exon5:c.T348C:p.N116N,STX6:NM_005819:exon7:c.T651C:p.N217N 0.52 0.45 0.63 0.63 0.57 0.4 0.5745 0.4764 0.6745 0.6183 0.6696 0.5910 0.5661 0.4383 0.55 0.48 0.59 0.55 0.52 rs3747957 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5801 0.4633 0.6685 0.5192 0.6176 0.6687 0.5908 0.5808 0.4379 0.5645 0.4659 0.6492 0.5033 0.6453 0.6548 0.5881 0.5697 het 941.23 81 1 180953853 . A G 941.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.622;DP=81;Dels=0.00;FS=4.203;HRun=0;HaplotypeScore=3.9635;MQ=59.54;MQ0=0;MQRankSum=0.062;QD=11.62;ReadPosRankSum=-0.640;VQSLOD=5.5130;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,44:81:99:971,0,860 1 181706685 181706685 C T exonic CACNA1E synonymous SNV CACNA1E:NM_001205294:exon22:c.C3390T:p.I1130I,CACNA1E:NM_000721:exon23:c.C3447T:p.I1149I,CACNA1E:NM_001205293:exon23:c.C3447T:p.I1149I 0.18 0.26 0.15 0.051 0.16 0.26 0.1545 0.2311 0.1351 0.0415 0.1306 0.1395 0.1637 0.2511 0.16 0.21 0.14 0.16 . rs34488539 COSM5618943;COSM5618944;COSM3750672;COSM3750674;COSM3750673 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1519 0.2332 0.1377 0.1571 0.0441 0.1268 0.1401 0.1373 0.2491 0.1603 0.2260 0.1325 0.1358 0.0419 0.1237 0.1460 0.1548 het 1011.33 82 1 181706685 . C T 1011.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.409;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6229;MQ=59.15;MQ0=0;MQRankSum=0.844;QD=12.33;ReadPosRankSum=1.509;VQSLOD=5.5920;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,35:82:99:1041,0,1392 1 181725110 181725110 T C exonic CACNA1E synonymous SNV CACNA1E:NM_001205294:exon28:c.T3951C:p.H1317H,CACNA1E:NM_000721:exon29:c.T4008C:p.H1336H,CACNA1E:NM_001205293:exon29:c.T4008C:p.H1336H 0.32 0.49 0.33 0.075 0.29 0.37 0.2845 0.4498 0.3217 0.0571 0.2622 0.2627 0.3020 0.3754 0.32 0.42 0.27 0.35 . rs4652678 COSM3750676;COSM5827618;COSM3750677;COSM3750675;COSM5827619 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2834 0.4555 0.3209 0.2363 0.0587 0.2633 0.2676 0.2792 0.3704 0.3125 0.4440 0.3153 0.2020 0.0543 0.2602 0.2795 0.2949 het 589.21 49 1 181725110 . T C 589.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.227;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7219;MQ=59.62;MQ0=0;MQRankSum=1.041;QD=12.02;ReadPosRankSum=1.784;VQSLOD=6.1486;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,24:49:99:619,0,672 1 181741301 181741301 C T exonic CACNA1E synonymous SNV CACNA1E:NM_001205294:exon36:c.C5016T:p.N1672N,CACNA1E:NM_000721:exon37:c.C5073T:p.N1691N,CACNA1E:NM_001205293:exon37:c.C5073T:p.N1691N 0.25 0.28 0.28 0.075 0.26 0.34 0.2485 0.2656 0.3050 0.0564 0.2391 0.2370 0.2816 0.3473 0.25 0.25 0.25 0.27 . rs199930 COSM5437184;COSM5437183;COSM3750678;COSM3750680;COSM3750679 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2494 0.2621 0.2966 0.1963 0.0586 0.2415 0.2431 0.2548 0.3433 0.2428 0.2587 0.2764 0.1656 0.0556 0.2420 0.2528 0.2561 het 2562.24 250 1 181741301 . C T 2562.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.078;DP=250;DS;Dels=0.00;FS=3.019;HRun=0;HaplotypeScore=6.5539;MQ=58.87;MQ0=0;MQRankSum=-2.107;QD=10.25;ReadPosRankSum=0.158;VQSLOD=3.4963;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:150,97:250:99:2592,0,4172 1 182026813 182026813 G C exonic ZNF648 nonsynonymous SNV ZNF648:NM_001009992:exon2:c.C333G:p.N111K 0.18 0.09 0.12 0.28 0.15 0.25 0.1683 0.0957 0.1745 0.2663 0.1952 0.1389 0.1806 0.2658 0.12 0.097 0.14 0.22 0.16 rs12568050 . . . . . . . . . . . . . 0.171 0.227 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P 0.345 0.112 N 3.32 0.062 T 0.03 0.066 N 0.021 0.005 -0.937 0.431 T 0.000 0.000 T . . . 0.598 0.151 8.142 0.460 0.036 0.019 0.057 N c -2.121 -2.176 0.991 0.323 0.765 0.991 0 -4.0 0.038 -0.985 0.038 -2.167 0.004 0.000 0.063 0.000 0.016 6.409 0.207 . ENSG00000224810.1 Nerve_Tibial 0.1683 0.0900 0.1616 0.1221 0.2704 0.1977 0.1391 0.1617 0.2583 0.1432 0.0976 0.1432 0.1093 0.2785 0.2011 0.1413 0.1609 het 1083.53 104 1 182026813 . G C 1083.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.012;DP=104;Dels=0.00;FS=0.739;HRun=1;HaplotypeScore=1.7297;MQ=59.28;MQ0=0;MQRankSum=-0.301;QD=10.42;ReadPosRankSum=1.660;VQSLOD=5.9754;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,42:104:99:1114,0,1624 1 182027022 182027022 C T exonic ZNF648 nonsynonymous SNV ZNF648:NM_001009992:exon2:c.G124A:p.E42K 0.18 0.086 0.12 0.28 0.15 0.25 0.1681 0.0914 0.1739 0.2656 0.1955 0.1392 0.1814 0.2658 0.12 0.093 0.14 0.22 0.16 rs12564283 COSM5733180 1(pancreas) . . . . . . . . . . . 0.279 0.155 T 0.002 0.090 B 0.001 0.040 B . . . 1 0.090 P 0.55 0.145 N 3.13 0.080 T -0.18 0.098 N 0.089 0.086 -0.899 0.481 T 0.000 0.000 T . . . 0.851 0.175 9.775 0.963 0.288 0.070 0.128 N c -1.120 -1.160 0.900 0.260 0.487 0.133 0 0.787 0.177 0.467 0.216 0.789 0.320 0.000 0.063 0.037 0.154 7.042 0.240 . ENSG00000224810.1 Nerve_Tibial 0.1680 0.0854 0.1612 0.1221 0.2701 0.1976 0.1391 0.1613 0.2582 0.1426 0.0945 0.1420 0.1093 0.2782 0.2014 0.1417 0.1609 het 2073 173 1 182027022 . C T 2073 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.373;DP=173;Dels=0.00;FS=1.212;HRun=1;HaplotypeScore=4.6687;MQ=58.67;MQ0=0;MQRankSum=0.158;QD=11.98;ReadPosRankSum=-0.541;VQSLOD=5.7390;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:89,84:173:99:2103,0,2338 1 182356399 182356399 A G exonic GLUL synonymous SNV GLUL:NM_001033044:exon3:c.T195C:p.S65S,GLUL:NM_001033056:exon3:c.T195C:p.S65S,GLUL:NM_002065:exon4:c.T195C:p.S65S 0.68 0.75 0.62 0.83 0.54 0.6 0.5748 0.7380 0.5786 0.8435 0.4841 0.5159 0.5782 0.6026 0.59 0.74 0.52 0.69 0.39 rs1058111 COSM5652778 1(haematopoietic_and_lymphoid_tissue) Benign Glutamine_deficiency\x2c_congenital RCV000402945.1 MedGen:OMIM:Orphanet C1864910:610015:ORPHA71278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5705 0.7392 0.5705 0.5981 0.8476 0.4826 0.5119 0.5642 0.6000 0.5940 0.7353 0.5526 0.6133 0.8550 0.4831 0.5161 0.5257 hom 5096.23 167 1 182356399 . A G 5096.23 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9601;MQ=59.36;MQ0=0;QD=30.52;VQSLOD=8.9853;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5096,382,0 1 182369078 182369078 G A exonic TEDDM1 synonymous SNV TEDDM1:NM_172000:exon1:c.C543T:p.P181P 0.85 0.96 0.82 0.84 0.82 0.8 0.8151 0.9324 0.8107 0.8507 0.7797 0.8007 0.8139 0.7979 0.84 0.93 0.79 0.86 0.77 rs6698722 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8127 0.9346 0.8132 0.8817 0.8519 0.7812 0.7934 0.8198 0.7993 0.8379 0.9316 0.8234 0.8940 0.8571 0.7841 0.7951 0.8143 hom 3781.95 114 1 182369078 . G A 3781.95 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7109;MQ=59.56;MQ0=0;QD=33.17;VQSLOD=8.0263;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3782,292,0 1 182369233 182369233 A G exonic TEDDM1 nonsynonymous SNV TEDDM1:NM_172000:exon1:c.T388C:p.Y130H 0.68 0.76 0.61 0.83 0.54 0.6 0.5751 0.7480 0.5789 0.8415 0.4829 0.5151 0.5771 0.6034 0.59 0.74 0.52 0.7 0.39 rs6674281 COSM5419980 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -3.53 0.000 N 1.48 0.317 T 5.69 0.000 N 0.122 0.137 -0.958 0.396 T 0.000 0.000 T . . . -0.975 0.033 0.018 0.094 0.001 0.004 0.020 N c -1.215 -0.965 0.996 0.344 0.487 0.133 0 5.05 0.674 3.106 0.498 0.138 0.222 0.929 0.320 0.013 0.120 11.533 0.497 . ENSG00000135821.12 Cells_Transformed_fibroblasts 0.5709 0.7492 0.5712 0.5965 0.8449 0.4822 0.5114 0.5637 0.6009 0.5947 0.7474 0.5538 0.6159 0.8506 0.4814 0.5110 0.5307 hom 8258.32 249 1 182369233 . A G 8258.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4821;MQ=59.24;MQ0=0;MQRankSum=-1.215;QD=33.17;ReadPosRankSum=0.782;VQSLOD=7.9585;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,248:249:99:8258,635,0 1 182569626 182569626 T C exonic RGS16 nonsynonymous SNV RGS16:NM_002928:exon5:c.A410G:p.H137R 0.99 0.98 0.99 1. 0.98 0.99 0.9824 0.9781 0.9915 1 0.9862 0.9759 0.9835 0.9942 0.97 0.98 0.97 0.99 0.98 rs1144566 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.217 P -3.22 0.000 N 1.9 0.235 T 4.24 0.000 N 0.089 0.086 -0.948 0.414 T 0.000 0.000 T . . . -0.446 0.059 0.299 0.225 0.009 0.074 0.133 N c -1.096 -0.755 1.000 0.747 0.722 0.854 0 5.3 0.746 3.149 0.501 0.030 0.149 1.000 0.715 0.652 0.299 13.828 0.627 RGS domain . . 0.9831 0.9795 0.9907 0.9934 0.9999 0.9877 0.9736 0.9828 0.9940 0.9781 0.9798 0.9905 0.9934 1 0.9874 0.9712 0.9857 hom 4570.18 155 1 182569626 . T C 4570.18 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=29.49;VQSLOD=8.7615;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4569,388,0 1 182850727 182850727 T C exonic DHX9 synonymous SNV DHX9:NM_001357:exon24:c.T2859C:p.T953T 0.98 0.95 0.99 1. 1. 1. 0.9963 0.9573 0.9984 1 1 0.9999 0.9989 0.9999 0.99 0.96 1. 0.98 1. rs6677840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9968 0.9545 0.9982 1 1 1 0.9999 0.9982 0.9998 0.9884 0.9591 0.9988 1 1 1 1 1 hom 5689.66 182 1 182850727 . T C 5689.66 Mask AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7465;MQ=59.15;MQ0=0;QD=31.26;VQSLOD=8.6149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5689,430,0 1 183486859 183486859 G A exonic SMG7 synonymous SNV SMG7:NM_001174061:exon3:c.G90A:p.L30L,SMG7:NM_173156:exon4:c.G216A:p.L72L,SMG7:NM_201568:exon4:c.G216A:p.L72L,SMG7:NM_201569:exon4:c.G216A:p.L72L,SMG7:NM_001331007:exon5:c.G303A:p.L101L,SMG7:NM_001350219:exon6:c.G303A:p.L101L,SMG7:NM_001350220:exon6:c.G303A:p.L101L,SMG7:NM_001350221:exon6:c.G303A:p.L101L 0.94 0.96 0.91 1. 0.87 0.96 0.9037 0.9510 0.9365 0.9992 0.9100 0.8689 0.8822 0.9399 0.9 0.95 0.87 0.96 0.86 rs789169 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9032 0.9527 0.9306 0.7890 0.9994 0.9089 0.8736 0.8752 0.9393 0.9089 0.9501 0.9189 0.7781 0.9994 0.9075 0.8784 0.8951 hom 5974.13 200 1 183486859 . G A 5974.13 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=29.87;VQSLOD=8.6498;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:5973,478,0 1 183532580 183532580 G T exonic NCF2 nonsynonymous SNV NCF2:NM_001190789:exon10:c.C924A:p.H308Q,NCF2:NM_001190794:exon11:c.C1032A:p.H344Q,NCF2:NM_000433:exon12:c.C1167A:p.H389Q,NCF2:NM_001127651:exon13:c.C1167A:p.H389Q 0.018 . 0.025 . 0.06 0.014 0.0343 0.0088 0.0238 0.0007 0.0376 0.0491 0.0485 0.0132 0.037 0.011 0.05 0.011 0.041 rs17849502 COSM1178273 2(soft_tissue);1(prostate) Benign|Likely benign not_specified|Chronic_granulomatous_disease RCV000253292.1|RCV000306202.1 MedGen|MedGen:Orphanet CN169374|C0018203:ORPHA379 . . . . . . 0.215 0.453 T 0.999 0.899 D 0.998 0.875 D 0.007 0.314 N 0.809 0.290 N 2.78 0.814 M 2.05 0.207 T -2.71 0.945 D 0.293 0.353 -1.060 0.117 T 0.015 0.063 T . . . 3.430 0.470 23.0 0.994 0.632 0.792 0.389 D c 0.295 0.221 0.885 0.257 0.632 0.406 0 1.72 0.234 1.706 0.373 1.048 0.713 1.000 0.715 0.960 0.441 10.473 0.436 PB1 domain;SH3 domain . . 0.0344 0.0085 0.0253 0.0600 0.0002 0.0361 0.0487 0.0416 0.0141 0.0333 0.0083 0.0298 0.0833 0 0.0435 0.0474 0.0448 het 4096.56 243 1 183532580 . G T 4096.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.885;DP=243;DS;Dels=0.00;FS=1.604;HRun=1;HaplotypeScore=3.5984;MQ=59.19;MQ0=0;MQRankSum=3.305;QD=16.86;ReadPosRankSum=1.382;VQSLOD=3.5579;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:118,125:243:99:3461,0,3286 1 183542323 183542323 C T exonic NCF2 synonymous SNV NCF2:NM_001190794:exon4:c.G471A:p.A157A,NCF2:NM_000433:exon5:c.G606A:p.A202A,NCF2:NM_001127651:exon6:c.G606A:p.A202A 0.018 . 0.025 . 0.06 0.014 0.0341 0.0086 0.0238 0.0001 0.0376 0.0489 0.0485 0.0133 0.037 0.011 0.05 0.011 0.041 rs17849501 . . Benign|Likely benign not_specified|Chronic_granulomatous_disease RCV000178768.2|RCV000274236.1 MedGen|MedGen:Orphanet CN169374|C0018203:ORPHA379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0344 0.0085 0.0254 0.06 0 0.0362 0.0486 0.0421 0.0142 0.0333 0.0081 0.0298 0.0861 0 0.0438 0.0475 0.0448 het 3205.90 249 1 183542323 . C T 3205.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.532;DP=249;DS;Dels=0.00;FS=3.122;HRun=1;HaplotypeScore=2.5130;MQ=59.58;MQ0=0;MQRankSum=-0.311;QD=12.88;ReadPosRankSum=1.414;VQSLOD=5.8793;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:133,116:249:99:3236,0,3506 1 183542387 183542387 T C exonic NCF2 nonsynonymous SNV NCF2:NM_001190794:exon4:c.A407G:p.K136R,NCF2:NM_000433:exon5:c.A542G:p.K181R,NCF2:NM_001127651:exon6:c.A542G:p.K181R 0.49 0.33 0.6 0.62 0.47 0.53 0.4895 0.3626 0.6573 0.6286 0.4749 0.4582 0.4758 0.5122 0.43 0.36 0.47 0.58 0.44 rs2274064 COSM3750690 1(pancreas);2(thyroid);1(large_intestine) Benign|Benign not_specified|Chronic_granulomatous_disease RCV000243467.1|RCV000388595.1 MedGen|MedGen:Orphanet CN169374|C0018203:ORPHA379 . . . . . . 0.909 0.024 T 0.0 0.026 B 0.001 0.040 B 0.075 0.212 N 1.000 0.588 P 0 0.065 N -0.17 0.656 T -0.02 0.098 N 0.01 0.001 -0.933 0.438 T 0.000 0.000 T . . . 0.553 0.147 7.827 0.693 0.087 0.460 0.274 N c -1.006 -0.786 0.964 0.287 0.672 0.522 0 1.27 0.205 0.615 0.238 -0.374 0.066 0.995 0.385 0.983 0.502 9.926 0.405 Tetratricopeptide-like helical domain ENSG00000116698.16|ENSG00000116698.16|ENSG00000116698.16|ENSG00000116698.16|ENSG00000232860.3|ENSG00000116698.16|ENSG00000116698.16|ENSG00000116698.16 Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.4988 0.3594 0.6463 0.3900 0.6233 0.4851 0.4657 0.4710 0.5068 0.4535 0.3690 0.6005 0.4238 0.6236 0.4825 0.4683 0.4775 hom 7634.08 229 1 183542387 . T C 7634.08 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.717;DP=229;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.8811;MQ=59.10;MQ0=0;MQRankSum=1.581;QD=33.34;ReadPosRankSum=0.945;VQSLOD=5.9727;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,228:229:99:7633,590,0 1 183616926 183616926 T C exonic APOBEC4 nonsynonymous SNV APOBEC4:NM_203454:exon2:c.A991G:p.K331E 0.37 0.49 0.35 0.24 0.4 0.32 0.3679 0.4668 0.2980 0.2213 0.3673 0.3944 0.3789 0.3241 0.42 0.47 0.4 0.34 0.42 rs1174657 . . . . . . . . . . . . . 0.74 0.037 T 0.0 0.026 B 0.001 0.040 B 0.753 0.097 N 1 0.090 P 1.32 0.331 L 2.59 0.133 T -1.31 0.328 N 0.016 0.003 -0.922 0.453 T 0.000 0.000 T . . . -1.695 0.013 0.002 0.310 0.017 0.054 0.112 N c -1.651 -1.638 0.310 0.193 0.476 0.093 0 -0.467 0.115 0.037 0.136 -2.315 0.003 0.000 0.063 0.000 0.016 6.984 0.237 . ENSG00000162704.11|ENSG00000116701.10|ENSG00000270009.1|ENSG00000116701.10|ENSG00000162704.11|ENSG00000162704.11|ENSG00000270009.1|ENSG00000162704.11|ENSG00000162704.11|ENSG00000162704.11|ENSG00000270009.1|ENSG00000162704.11|ENSG00000270009.1|ENSG00000162704.11 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood 0.3632 0.4749 0.3004 0.3667 0.2277 0.3605 0.3972 0.3776 0.3272 0.3930 0.4669 0.3517 0.3675 0.2230 0.3577 0.3805 0.3763 hom 7457.53 241 1 183616926 . T C 7457.53 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5089;MQ=59.37;MQ0=0;QD=30.94;VQSLOD=9.1292;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:7456,623,0 1 183617105 183617105 A G exonic APOBEC4 nonsynonymous SNV APOBEC4:NM_203454:exon2:c.T812C:p.F271S 0.37 0.49 0.35 0.24 0.4 0.32 0.3680 0.4671 0.2981 0.2213 0.3674 0.3944 0.3797 0.3239 0.42 0.47 0.4 0.34 0.42 rs1174658 COSM424777 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.762 0.035 T 0.0 0.026 B 0.0 0.013 B 0.035 0.247 N 1.000 0.182 P -2.175 0.001 N 2.91 0.100 T 3.06 0.001 N 0.033 0.013 -0.969 0.373 T 0.000 0.000 T . . . -0.079 0.086 1.891 0.534 0.048 0.000 0.003 N c -1.246 -1.116 0.977 0.297 0.372 0.050 0 4.55 0.553 1.709 0.373 0.138 0.222 0.113 0.228 0.012 0.117 8.190 0.303 . ENSG00000162704.11|ENSG00000116701.10|ENSG00000270009.1|ENSG00000116701.10|ENSG00000162704.11|ENSG00000162704.11|ENSG00000270009.1|ENSG00000162704.11|ENSG00000162704.11|ENSG00000162704.11|ENSG00000270009.1|ENSG00000162704.11|ENSG00000270009.1|ENSG00000162704.11 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood 0.3633 0.4749 0.3006 0.3667 0.2274 0.3606 0.3974 0.3776 0.3271 0.3939 0.4682 0.3520 0.3675 0.2228 0.3573 0.3817 0.3763 hom 4550.53 140 1 183617105 . A G 4550.53 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.958;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6567;MQ=58.99;MQ0=0;MQRankSum=2.397;QD=32.50;ReadPosRankSum=1.501;VQSLOD=8.5667;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,138:140:99:4494,314,0 1 183876182 183876182 C T exonic RGL1 synonymous SNV RGL1:NM_001297672:exon13:c.C1422T:p.D474D,RGL1:NM_001297670:exon14:c.C1503T:p.D501D,RGL1:NM_001297671:exon14:c.C1509T:p.D503D,RGL1:NM_001297669:exon15:c.C1503T:p.D501D,RGL1:NM_015149:exon15:c.C1614T:p.D538D 0.22 0.22 0.29 0.075 0.3 0.22 0.2844 0.2475 0.2913 0.0917 0.3873 0.3149 0.2926 0.2361 0.28 0.25 0.3 0.28 0.23 rs11591089 COSM146709;COSM3746692 1(stomach);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2751 0.2296 0.2769 0.3145 0.0824 0.3832 0.3000 0.2729 0.2239 0.2749 0.2351 0.2739 0.3013 0.0881 0.3879 0.2899 0.2969 het 536.80 45 1 183876182 . C T 536.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.851;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=-1.510;QD=11.93;ReadPosRankSum=-0.397;VQSLOD=6.3197;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:567,0,544 1 183909717 183909717 G A exonic COLGALT2 synonymous SNV COLGALT2:NM_001303420:exon11:c.C1602T:p.P534P,COLGALT2:NM_001303421:exon11:c.C1242T:p.P414P,COLGALT2:NM_015101:exon11:c.C1602T:p.P534P 0.17 0.073 0.24 0.18 0.2 0.22 0.1984 0.0928 0.3176 0.2205 0.1507 0.1863 0.1927 0.2384 0.16 0.094 0.19 0.17 0.22 rs2296713 COSM3750693;COSM3750692 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2026 0.0880 0.3086 0.2025 0.2094 0.1464 0.1883 0.2088 0.2316 0.1526 0.0927 0.2919 0.2185 0.1993 0.1445 0.1746 0.1612 het 4104.88 248 1 183909717 . G A 4104.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.795;DP=248;DS;Dels=0.00;FS=7.944;HRun=0;HaplotypeScore=2.5765;MQ=59.23;MQ0=0;MQRankSum=0.847;QD=16.55;ReadPosRankSum=-0.886;VQSLOD=4.5101;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:124,124:248:99:3484,0,2993 1 184663537 184663537 A C exonic EDEM3 nonsynonymous SNV EDEM3:NM_025191:exon20:c.T2459G:p.I820S,EDEM3:NM_001319960:exon21:c.T2507G:p.I836S 0.35 0.036 0.34 0.58 0.37 0.54 0.3911 0.0909 0.3459 0.5492 0.4219 0.3836 0.3962 0.5391 0.29 0.096 0.38 0.26 0.3 rs9425343 COSM3746696;COSM3746697 1(pancreas);1(liver);1(skin);1(large_intestine) . . . . . . . . . . . 0.716 0.329 T 0.001 0.067 B 0.002 0.063 B 0.905 0.074 N 1 0.090 P 0.55 0.145 N -0.65 0.730 T 0.28 0.048 N 0.148 0.175 -0.951 0.408 T 0.000 0.000 T . . . -0.705 0.045 0.070 0.820 0.135 0.217 0.213 N c -1.092 -1.043 0.011 0.122 0.707 0.730 0 1.12 0.196 0.307 0.189 0.191 0.249 0.004 0.165 0.001 0.043 6.32 0.203 . ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.3909 0.0800 0.3429 0.3627 0.5513 0.4306 0.3798 0.3758 0.5297 0.3020 0.0789 0.3470 0.3742 0.5534 0.4139 0.3688 0.3980 het 220.46 23 1 184663537 . A C 220.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.732;DP=23;Dels=0.00;FS=1.824;HRun=0;HaplotypeScore=0.9993;MQ=59.19;MQ0=0;MQRankSum=-0.724;QD=9.59;ReadPosRankSum=0.346;VQSLOD=6.4102;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,9:23:99:250,0,401 1 184663581 184663581 T C exonic EDEM3 synonymous SNV EDEM3:NM_025191:exon20:c.A2415G:p.Q805Q,EDEM3:NM_001319960:exon21:c.A2463G:p.Q821Q 0.42 0.19 0.4 0.59 0.43 0.57 0.4555 0.2442 0.4089 0.5675 0.4422 0.4500 0.4719 0.5821 0.38 0.24 0.44 0.34 0.42 rs9425634 COSM3746698;COSM3746699 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4472 0.2306 0.4048 0.4471 0.5661 0.4455 0.4400 0.4472 0.5586 0.3798 0.2266 0.4159 0.4868 0.5652 0.4307 0.4283 0.4561 het 193.45 26 1 184663581 . T C 193.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.611;DP=26;Dels=0.00;FS=3.674;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;MQRankSum=-0.593;QD=7.44;ReadPosRankSum=0.269;VQSLOD=5.1393;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,9:26:99:223,0,421 1 184675814 184675814 G A exonic EDEM3 synonymous SNV EDEM3:NM_001319960:exon18:c.C2166T:p.N722N,EDEM3:NM_025191:exon18:c.C2166T:p.N722N 0.35 0.026 0.34 0.58 0.37 0.54 0.3867 0.0799 0.3433 0.5471 0.4233 0.3803 0.3985 0.5368 0.28 0.089 0.38 0.26 0.3 rs1062994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3907 0.0723 0.3426 0.3626 0.5513 0.4348 0.3799 0.3768 0.5296 0.3001 0.0725 0.3484 0.3742 0.5513 0.4172 0.3681 0.3945 het 882.09 70 1 184675814 . G A 882.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.349;DP=70;Dels=0.00;FS=3.166;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;MQRankSum=0.147;QD=12.60;ReadPosRankSum=-1.397;VQSLOD=5.4182;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,38:70:99:912,0,855 1 184677464 184677464 G A exonic EDEM3 synonymous SNV EDEM3:NM_001319960:exon17:c.C1860T:p.I620I,EDEM3:NM_025191:exon17:c.C1860T:p.I620I 0.65 0.85 0.51 0.7 0.48 0.61 0.5353 0.8040 0.4693 0.6815 0.5036 0.4703 0.5442 0.6099 0.58 0.79 0.48 0.59 0.48 rs3736757 COSM3746701;COSM3746700 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . Obesity-related traits . .03 23251661 rs3736757 6E-6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5243 0.8097 0.4613 0.4598 0.6845 0.5107 0.4677 0.5097 0.6008 0.5747 0.7989 0.4916 0.5 0.7132 0.4908 0.4581 0.5205 het 654.67 60 1 184677464 . G A 654.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.036;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4972;MQ=58.52;MQ0=0;MQRankSum=-0.446;QD=10.91;ReadPosRankSum=-0.684;VQSLOD=5.9663;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,27:60:99:685,0,788 1 184801065 184801065 T C exonic FAM129A synonymous SNV FAM129A:NM_052966:exon6:c.A633G:p.Q211Q 0.28 0.38 0.24 0.16 0.34 0.26 0.2969 0.3712 0.1719 0.1674 0.2954 0.3244 0.2974 0.2949 0.35 0.37 0.34 0.34 0.37 rs487675 COSM1337073 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2909 0.3733 0.1767 0.3079 0.1616 0.2827 0.3325 0.2958 0.2958 0.3166 0.3684 0.2153 0.2980 0.1695 0.2696 0.3202 0.3031 het 936.67 85 1 184801065 . T C 936.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.249;DP=85;Dels=0.00;FS=1.799;HRun=1;HaplotypeScore=1.8410;MQ=58.29;MQ0=0;MQRankSum=0.731;QD=11.02;ReadPosRankSum=1.573;VQSLOD=5.6076;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,37:85:99:967,0,1233 1 185984517 185984517 T C exonic HMCN1 synonymous SNV HMCN1:NM_031935:exon31:c.T4857C:p.H1619H 0.34 0.033 0.43 0.42 0.48 0.48 0.4271 0.0950 0.4796 0.3851 0.4932 0.4668 0.4035 0.4342 0.35 0.1 0.47 0.26 0.51 rs6665753 COSM5008411 1(large_intestine) Likely benign Macular_degeneration RCV000308140.1 Human_Phenotype_Ontology:MedGen HP:0000608:C0024437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4319 0.0828 0.4603 0.3596 0.3892 0.4984 0.4710 0.4364 0.4327 0.3688 0.0916 0.4630 0.3344 0.3795 0.5100 0.4860 0.4582 hom 1381.59 45 1 185984517 . T C 1381.59 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=30.70;VQSLOD=9.3192;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1415,117,0 1 186273994 186273994 C T exonic PRG4 nonsynonymous SNV PRG4:NM_001127708:exon5:c.C415T:p.R139W,PRG4:NM_005807:exon6:c.C538T:p.R180W 0.23 0.15 0.41 0.13 0.33 0.22 0.3050 0.1778 0.4380 0.1392 0.2955 0.3424 0.3029 0.2284 0.3 0.19 0.35 0.12 0.26 rs2273779 COSM3997116 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.035 0.721 D 0.949 0.550 P 0.329 0.467 B 0.033 0.249 U 0.973 0.588 P 1.87 0.498 L 0.74 0.505 T -6.02 0.897 D 0.103 0.442 -0.947 0.415 T 0.000 0.000 T . . . 5.123 0.691 25.4 0.999 0.961 0.641 0.320 D c 0.166 0.226 0.005 0.108 0.487 0.133 0 4.26 0.497 1.582 0.359 0.852 0.362 1.000 0.715 1.000 0.888 9.740 0.394 . ENSG00000233196.2|ENSG00000157181.10 Artery_Coronary|Cells_Transformed_fibroblasts 0.3115 0.1735 0.4298 0.3468 0.1433 0.2866 0.3444 0.3261 0.2333 0.2835 0.1910 0.3962 0.3477 0.1632 0.2811 0.3430 0.2878 het 872 69 1 186273994 . C T 872 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.104;DP=69;Dels=0.00;FS=2.118;HRun=2;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;MQRankSum=0.675;QD=12.64;ReadPosRankSum=-0.295;VQSLOD=6.7129;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,36:69:99:902,0,922 1 186277989 186277989 A G exonic PRG4 synonymous SNV PRG4:NM_001127710:exon4:c.A2736G:p.P912P,PRG4:NM_001127709:exon5:c.A2859G:p.P953P,PRG4:NM_001127708:exon6:c.A3015G:p.P1005P,PRG4:NM_001303232:exon6:c.A3009G:p.P1003P,PRG4:NM_005807:exon7:c.A3138G:p.P1046P 0.22 0.11 0.4 0.12 0.33 0.22 0.3016 0.1428 0.4371 0.1358 0.2948 0.3429 0.3020 0.2288 0.28 0.15 0.35 0.13 0.33 rs3737940 COSM3997118 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3096 0.1377 0.4289 0.3471 0.1397 0.2867 0.3450 0.3249 0.2335 0.2706 0.1470 0.3933 0.3477 0.1584 0.2804 0.3427 0.2882 het 2459.76 198 1 186277989 . A G 2459.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.184;DP=198;Dels=0.00;FS=2.033;HRun=0;HaplotypeScore=12.2810;MQ=59.07;MQ0=0;MQRankSum=0.079;QD=12.42;ReadPosRankSum=0.089;VQSLOD=3.7157;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:101,97:198:99:2490,0,2798 1 186321242 186321242 C T exonic TPR nonsynonymous SNV TPR:NM_003292:exon19:c.G2335A:p.V779I 0.087 0.023 0.12 0.071 0.18 0.064 0.1333 0.0440 0.0718 0.0725 0.1618 0.1760 0.1374 0.0772 0.14 0.052 0.18 0.043 0.14 rs61744267 COSM328079 1(stomach);1(pancreas);3(prostate) . . . . . . . . . . . 0.148 0.248 T 0.985 0.592 D 0.437 0.438 B 0.001 0.410 D 0.000 0.501 P 1.91 0.513 L 1.83 0.248 T -0.69 0.197 N 0.111 0.120 -1.045 0.158 T 0.000 0.000 T . . . 3.412 0.468 23.0 0.998 0.923 0.994 0.958 D c 0.438 0.497 1.000 0.747 0.732 0.924 0 5.75 0.904 5.214 0.648 0.935 0.490 1.000 0.715 0.963 0.446 19.544 0.953 . ENSG00000157181.10 Cells_Transformed_fibroblasts 0.1367 0.0410 0.0908 0.1182 0.0771 0.1606 0.1815 0.1430 0.0815 0.1360 0.0433 0.1010 0.1367 0.0916 0.1618 0.1903 0.1417 het 766.79 69 1 186321242 . C T 766.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.538;DP=69;Dels=0.00;FS=3.075;HRun=0;HaplotypeScore=3.5581;MQ=58.44;MQ0=0;MQRankSum=-1.241;QD=11.11;ReadPosRankSum=-1.338;VQSLOD=3.9030;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,30:69:99:797,0,1161 1 186648197 186648197 C G exonic PTGS2 synonymous SNV PTGS2:NM_000963:exon3:c.G306C:p.V102V 0.076 0.013 0.11 0.044 0.18 0.061 0.1207 0.0326 0.0667 0.0387 0.1779 0.1586 0.1392 0.0796 0.11 0.038 0.15 0.054 0.19 rs5277 COSM146712 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1203 0.0301 0.0784 0.1033 0.0391 0.1711 0.1592 0.1311 0.0822 0.1204 0.0299 0.0871 0.1291 0.0370 0.1670 0.1713 0.1459 het 389.91 44 1 186648197 . C G 389.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.981;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=1.847;QD=8.86;ReadPosRankSum=-0.675;VQSLOD=5.6589;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,16:44:99:420,0,784 1 186946912 186946912 G A exonic PLA2G4A nonsynonymous SNV PLA2G4A:NM_001311193:exon14:c.G1772A:p.R591K,PLA2G4A:NM_024420:exon16:c.G1952A:p.R651K 0.99 1. 0.98 1. 0.97 0.98 0.9804 0.9956 0.9759 0.9997 0.9808 0.9764 0.9813 0.9796 0.99 1. 0.98 0.98 1. rs2307198 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.978 0.257 P -2.66 0.000 N 2.94 0.098 T 1.79 0.005 N 0.026 0.222 -0.965 0.382 T 0.000 0.000 T . . . 1.772 0.274 14.82 0.810 0.130 0.195 0.205 N c -0.725 -0.351 1.000 0.747 0.628 0.401 0 5.98 0.971 7.038 0.761 0.244 0.267 1.000 0.715 0.995 0.604 11.512 0.496 Acyl transferase/acyl hydrolase/lysophospholipase|Lysophospholipase\x2c catalytic domain . . 0.9800 0.9959 0.9754 0.9924 0.9997 0.9808 0.9748 0.9808 0.9799 0.9819 0.9940 0.9761 0.9934 0.9994 0.9848 0.9734 0.9674 hom 3756.78 118 1 186946912 . G A 3756.78 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9399;MQ=58.57;MQ0=0;QD=31.84;VQSLOD=9.6053;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3756,286,0 1 196227526 196227526 A G exonic KCNT2 synonymous SNV KCNT2:NM_001287819:exon25:c.T2937C:p.D979D,KCNT2:NM_001287820:exon25:c.T2808C:p.D936D,KCNT2:NM_198503:exon26:c.T3009C:p.D1003D 0.99 0.96 0.99 1. 1. 1. 0.9961 0.9583 0.9977 1 1 0.9999 0.9967 1 0.99 0.96 1. 0.99 0.99 rs977157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9969 0.9562 0.9980 1 1 1 0.9999 0.9982 0.9999 0.9863 0.9520 0.9964 1 1 1 0.9999 0.9990 hom 4458.60 141 1 196227526 . A G 4458.60 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7502;MQ=58.81;MQ0=0;QD=31.62;VQSLOD=8.9926;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4458,346,0 1 196654324 196654324 A C exonic CFH synonymous SNV CFH:NM_000186:exon7:c.A921C:p.A307A,CFH:NM_001014975:exon7:c.A921C:p.A307A 0.71 0.57 0.76 0.95 0.64 0.71 0.6666 0.5734 0.8434 0.9510 0.5557 0.6167 0.6608 0.7003 0.61 0.59 0.62 0.66 0.57 rs1061147 COSM3750723 1(large_intestine) Benign|Benign|Benign|Benign Macular_degeneration|Basal_laminar_drusen|Mesangiocapillary_glomerulonephritis\x2c_type_II|Atypical_hemolytic_uremic_syndrome RCV000267123.1|RCV000305955.1|RCV000354801.1|RCV000358116.1 Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet HP:0000608:C0024437|C0730295:126700:312926005|C0268743:ORPHA93571:59479006|C2931788:ORPHA2134 Age-related macular degeneration 0.71 . 23326517 rs1061147 7E-32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6753 0.5721 0.8324 0.6646 0.9535 0.5638 0.6171 0.6541 0.6983 0.6188 0.5773 0.7830 0.6689 0.9559 0.5500 0.6138 0.6071 het 1377.89 122 1 196654324 . A C 1377.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.139;DP=122;Dels=0.00;FS=3.708;HRun=1;HaplotypeScore=2.8311;MQ=59.31;MQ0=0;MQRankSum=1.060;QD=11.29;ReadPosRankSum=0.689;VQSLOD=6.1632;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,49:122:99:1408,0,2032 1 196659237 196659237 C T exonic CFH nonsynonymous SNV CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y 0.73 0.64 0.77 0.95 0.64 0.71 0.6721 0.6307 0.8458 0.9506 0.5582 0.6169 0.6589 0.7008 0.62 0.64 0.62 0.67 0.52 rs1061170 COSM424915 1(prostate);1(large_intestine) other|Pathogenic\x2cBenign|Benign|Benign|Benign Age-related_macular_degeneration_4|Basal_laminar_drusen\x2cBasal_laminar_drusen|Macular_degeneration|Mesangiocapillary_glomerulonephritis\x2c_type_II|Atypical_hemolytic_uremic_syndrome RCV000018015.5|RCV000018016.31\x2cRCV000296616.1|RCV000327040.1|RCV000349294.1|RCV000388493.1 MedGen:OMIM|MedGen:OMIM:SNOMED_CT\x2cMedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet C1853147:610698|C0730295:126700:312926005\x2cC0730295:126700:312926005|HP:0000608:C0024437|C0268743:ORPHA93571:59479006|C2931788:ORPHA2134 Age-related macular degeneration 0.41 . 21665990 rs1061170 1E-261 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P . . . -0.03 0.631 T 0.01 0.069 N 0.031 0.021 -1.007 0.279 T 0.000 0.000 T . . . -3.918 0.000 0.001 0.221 0.009 0.001 0.006 N c -2.769 -2.879 0.999 0.379 0.707 0.730 0 -9.09 0.006 -8.331 0.000 -5.376 0.000 0.000 0.063 0.000 0.016 2.071 0.034 Sushi/SCR/CCP domain ENSG00000244414.2|ENSG00000000971.11 Liver|Nerve_Tibial 0.6787 0.6262 0.8348 0.6648 0.9535 0.5636 0.6163 0.6567 0.6983 0.6336 0.6282 0.7885 0.6689 0.9557 0.55 0.6144 0.6104 het 1225.96 81 1 196659237 . C T 1225.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.543;DP=81;Dels=0.00;FS=0.944;HRun=1;HaplotypeScore=2.9906;MQ=57.75;MQ0=0;MQRankSum=1.105;QD=15.14;ReadPosRankSum=1.640;VQSLOD=3.7839;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,46:81:99:1256,0,915 1 196682947 196682947 G A exonic CFH synonymous SNV CFH:NM_000186:exon10:c.G1419A:p.A473A 0.48 0.47 0.54 0.42 0.42 0.56 0.4431 0.4594 0.4518 0.4359 0.3974 0.4182 0.4569 0.5481 0.43 0.47 0.4 0.48 0.43 rs2274700 COSM3750724 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Benign|Benign\x2cother Macular_degeneration|Mesangiocapillary_glomerulonephritis\x2c_type_II|Atypical_hemolytic_uremic_syndrome|Basal_laminar_drusen\x2cAge-related_macular_degeneration_4 RCV000281469.1|RCV000338900.1|RCV000387444.1|RCV000404891.1\x2cRCV000018023.3 Human_Phenotype_Ontology:MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet|MedGen:OMIM:SNOMED_CT\x2cMedGen:OMIM HP:0000608:C0024437|C0268743:ORPHA93571:59479006|C2931788:ORPHA2134|C0730295:126700:312926005\x2cC1853147:610698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4439 0.4606 0.4600 0.5193 0.4310 0.4037 0.4126 0.4254 0.5462 0.4239 0.4696 0.4412 0.51 0.4261 0.3805 0.4042 0.4274 het 1207.49 110 1 196682947 . G A 1207.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.622;DP=110;Dels=0.00;FS=0.722;HRun=3;HaplotypeScore=1.9152;MQ=58.73;MQ0=0;MQRankSum=-0.132;QD=10.98;ReadPosRankSum=0.547;VQSLOD=6.1351;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,49:110:99:1237,0,1666 1 196973906 196973906 T C exonic CFHR5 synonymous SNV CFHR5:NM_030787:exon9:c.T1446C:p.Y482Y . . . . . . 8.24e-06 0 0 0 0 1.499e-05 0 0 . . . . . rs776756790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.127e-06 0 0 0 0 0 1.792e-05 0 0 . . . . . . . . het 2084.43 144 1 196973906 . T C 2084.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.221;DP=144;Dels=0.00;FS=0.658;HRun=0;HaplotypeScore=2.5606;MQ=59.84;MQ0=0;MQRankSum=0.913;QD=14.48;ReadPosRankSum=-0.386;VQSLOD=4.6784;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,74:144:99:2114,0,1739 1 197009798 197009798 A G exonic F13B synonymous SNV F13B:NM_001994:exon11:c.T1806C:p.N602N 0.53 0.19 0.65 0.82 0.5 0.61 0.5270 0.2372 0.7499 0.8177 0.5593 0.4749 0.5610 0.5941 0.39 0.23 0.47 0.43 0.32 rs5998 . . Benign|Benign not_specified|Factor_xiii\x2c_b_subunit\x2c_deficiency_of RCV000248564.1|RCV000307541.1 MedGen|MedGen:OMIM CN169374|C2750481:613235 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5399 0.2271 0.7222 0.4866 0.8181 0.5656 0.4715 0.5257 0.5890 0.4389 0.2380 0.6755 0.4967 0.8118 0.5515 0.4705 0.5093 het 504.57 38 1 197009798 . A G 504.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.850;DP=38;Dels=0.00;FS=3.144;HRun=0;HaplotypeScore=2.8073;MQ=58.85;MQ0=0;MQRankSum=0.512;QD=13.28;ReadPosRankSum=1.272;VQSLOD=6.0507;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,18:38:99:535,0,513 1 197030201 197030201 T C exonic F13B synonymous SNV F13B:NM_001994:exon4:c.A456G:p.T152T 0.78 0.38 0.88 1. 0.91 0.9 0.8805 0.4630 0.9438 0.9996 0.9355 0.9064 0.8991 0.9018 0.76 0.46 0.91 0.58 0.66 rs5997 . . Benign|Benign not_specified|Factor_xiii\x2c_b_subunit\x2c_deficiency_of RCV000245968.1|RCV000341515.1 MedGen|MedGen:OMIM CN169374|C2750481:613235 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8904 0.4476 0.9383 0.8972 0.9997 0.9296 0.9074 0.8919 0.9016 0.7910 0.4533 0.9091 0.9238 1 0.9414 0.9127 0.9194 het 470.55 34 1 197030201 . T C 470.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.082;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=59.32;MQ0=0;MQRankSum=0.262;QD=13.84;ReadPosRankSum=-0.997;VQSLOD=6.5605;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,20:34:99:501,0,364 1 197031021 197031021 C T exonic F13B nonsynonymous SNV F13B:NM_001994:exon3:c.G344A:p.R115H 0.76 0.32 0.88 0.98 0.91 0.9 0.8720 0.3995 0.9412 0.9837 0.9353 0.9058 0.8947 0.9 0.74 0.41 0.91 0.7 0.82 rs6003 . . other|Benign|Benign Venous_thrombosis\x2c_susceptibility_to|not_specified|Factor_xiii\x2c_b_subunit\x2c_deficiency_of RCV000017984.2|RCV000253350.1|RCV000301691.1 MedGen|MedGen|MedGen:OMIM CN068878|CN169374|C2750481:613235 . . . . . . 0.38 0.112 T 0.0 0.026 B 0.002 0.063 B 0.781 0.095 N 1 0.090 P 0.79 0.196 N -0.18 0.658 T -0.51 0.160 N 0.138 0.160 -1.024 0.224 T 0.000 0.000 T . . . 0.292 0.122 5.616 0.312 0.017 0.016 0.051 N c -1.379 -1.364 0.000 0.042 0.487 0.133 0 -0.818 0.102 -0.438 0.069 -1.615 0.009 0.001 0.137 0.000 0.016 4.868 0.129 Sushi/SCR/CCP domain ENSG00000177888.7|ENSG00000116785.9|ENSG00000116785.9 Adipose_Subcutaneous|Lung|Thyroid 0.8830 0.3881 0.9328 0.8945 0.9817 0.9292 0.9063 0.8888 0.8979 0.7756 0.4022 0.9055 0.9238 0.9801 0.9407 0.9129 0.9112 het 1143.95 72 1 197031021 . C T 1143.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.564;DP=72;Dels=0.00;FS=1.980;HRun=0;HaplotypeScore=0.9332;MQ=58.96;MQ0=0;MQRankSum=-0.451;QD=15.89;ReadPosRankSum=0.965;VQSLOD=6.1165;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,42:72:99:1174,0,718 1 197070815 197070815 T C exonic ASPM synonymous SNV ASPM:NM_018136:exon18:c.A7566G:p.L2522L 0.82 0.5 0.89 1. 0.91 0.9 0.8876 0.5494 0.9477 0.9995 0.9352 0.9068 0.9015 0.9012 0.79 0.55 0.91 0.75 0.84 rs1412640 . . Benign|other|Benign Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020792.1|RCV000145187.6|RCV000317009.1 MedGen:OMIM|MedGen|MedGen C1837501:608716|CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8957 0.5411 0.9398 0.9072 0.9997 0.9289 0.9066 0.8961 0.8990 0.8174 0.5454 0.9163 0.9272 1 0.9410 0.9131 0.9254 het 905.40 56 1 197070815 . T C 905.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.243;DP=56;Dels=0.00;FS=5.552;HRun=0;HaplotypeScore=0.9159;MQ=57.96;MQ0=0;MQRankSum=0.126;QD=16.17;ReadPosRankSum=0.042;VQSLOD=4.6451;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,34:56:99:935,0,509 1 197070901 197070901 A G exonic ASPM nonsynonymous SNV ASPM:NM_018136:exon18:c.T7480C:p.Y2494H 1. 1. 0.99 1. 0.99 1. 0.9956 0.9989 0.9990 1 0.9986 0.9930 0.9989 0.9978 1. 1. 0.99 1. 0.99 rs964201 . . Benign|Benign|Benign Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020789.1|RCV000145183.6|RCV000332016.1 MedGen:OMIM|MedGen|MedGen C1837501:608716|CN169374|CN239428 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.01 0.139 B 0.000 0.457 N 1.000 0.810 P -2.065 0.002 N -0.74 0.732 T 2.51 0.002 N 0.121 0.135 -0.934 0.435 T 0.000 0.000 T . . . 0.626 0.154 8.336 0.133 0.003 0.086 0.143 N c -0.901 -0.624 1.000 0.747 0.707 0.730 0 4.83 0.617 3.069 0.495 0.074 0.181 1.000 0.715 0.900 0.381 13.631 0.615 IQ motif\x2c EF-hand binding site|P-loop containing nucleoside triphosphate hydrolase . . 0.9963 0.9989 0.9990 0.9999 1 0.9982 0.9935 0.9969 0.9974 0.9962 0.9994 0.9988 1 1 1 0.9927 0.9980 hom 2015.80 65 1 197070901 . A G 2015.80 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;QD=31.01;VQSLOD=8.7997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2049,156,0 1 197091537 197091537 A T exonic ASPM synonymous SNV ASPM:NM_001206846:exon14:c.T3579A:p.S1193S,ASPM:NM_018136:exon14:c.T3579A:p.S1193S 0.78 0.38 0.88 1. 0.91 0.9 0.8779 0.4504 0.9430 0.9997 0.9352 0.9058 0.8998 0.9008 0.75 0.46 0.91 0.72 0.84 rs4915337 . . Benign|other|Benign Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020768.1|RCV000145113.2|RCV000304377.1 MedGen:OMIM|MedGen|MedGen C1837501:608716|CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8880 0.4414 0.9348 0.8937 0.9998 0.9290 0.9062 0.8914 0.8987 0.7906 0.4511 0.9079 0.92 0.9988 0.9408 0.9126 0.9194 het 641.88 46 1 197091537 . A T 641.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.183;DP=46;Dels=0.00;FS=4.441;HRun=0;HaplotypeScore=0.8667;MQ=57.75;MQ0=0;MQRankSum=1.407;QD=13.95;ReadPosRankSum=0.476;VQSLOD=4.0487;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,26:46:99:672,0,535 1 197094030 197094030 C T exonic ASPM synonymous SNV ASPM:NM_001206846:exon12:c.G3138A:p.R1046R,ASPM:NM_018136:exon12:c.G3138A:p.R1046R 0.22 0.13 0.21 0.15 0.33 0.29 0.2801 0.1582 0.2487 0.1120 0.3069 0.3151 0.3249 0.3118 0.26 0.16 0.32 0.24 0.16 rs6676084 COSM3750735 1(large_intestine) Benign|Benign|Likely benign Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020763.1|RCV000145109.2|RCV000259745.1 MedGen:OMIM|MedGen|MedGen C1837501:608716|CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2802 0.1555 0.2502 0.3060 0.1103 0.3143 0.3144 0.3072 0.3086 0.2524 0.1620 0.2644 0.3278 0.1009 0.3053 0.3046 0.2869 het 1562.22 130 1 197094030 . C T 1562.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.300;DP=130;Dels=0.00;FS=0.664;HRun=0;HaplotypeScore=1.9931;MQ=58.66;MQ0=0;MQRankSum=0.144;QD=12.02;ReadPosRankSum=0.648;VQSLOD=6.1169;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,63:130:99:1592,0,1626 1 197112533 197112533 G A exonic ASPM synonymous SNV ASPM:NM_001206846:exon3:c.C849T:p.S283S,ASPM:NM_018136:exon3:c.C849T:p.S283S 0.76 0.29 0.87 0.98 0.91 0.9 0.8698 0.3743 0.9388 0.9834 0.9349 0.9054 0.8916 0.9006 0.73 0.39 0.91 0.67 0.83 rs6677082 . . other|Benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000081938.7|RCV000284938.1 MedGen|MedGen CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8810 0.3628 0.9307 0.8939 0.9815 0.9290 0.9058 0.8858 0.8984 0.7690 0.3794 0.9043 0.9205 0.9808 0.9408 0.9125 0.9129 het 1556.44 132 1 197112533 . G A 1556.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.752;DP=132;Dels=0.00;FS=1.392;HRun=0;HaplotypeScore=0.9332;MQ=59.22;MQ0=0;MQRankSum=-1.039;QD=11.79;ReadPosRankSum=-1.007;VQSLOD=6.2640;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,63:132:99:1586,0,1788 1 197390368 197390368 A G exonic CRB1 synonymous SNV CRB1:NM_001193640:exon4:c.A1074G:p.L358L,CRB1:NM_001257966:exon6:c.A1410G:p.L470L,CRB1:NM_201253:exon6:c.A1410G:p.L470L,CRB1:NM_001257965:exon8:c.A1203G:p.L401L 0.92 0.71 0.98 1. 1. 1. 0.9781 0.7639 0.9878 0.9995 1 0.9991 0.9967 0.9999 0.92 0.77 1. 0.9 0.99 rs3902057 . . Benign not_specified RCV000153108.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9823 0.7559 0.9875 0.9998 0.9998 1 0.9990 0.9892 0.9996 0.9339 0.7683 0.9869 1 1 1 0.9995 0.9919 hom 4092 126 1 197390368 . A G 4092 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=32.48;VQSLOD=9.5382;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4092,316,0 1 197480927 197480927 C T exonic DENND1B synonymous SNV DENND1B:NM_001195215:exon22:c.G1746A:p.Q582Q 0.23 0.14 0.26 0.22 0.31 0.26 0.2739 0.1562 0.1840 0.2106 0.2220 0.3239 0.2837 0.2618 0.28 0.17 0.34 0.25 0.27 rs12142127 COSM4419696;COSM4419695 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2729 0.1535 0.1928 0.3011 0.2131 0.2164 0.3337 0.2979 0.2604 0.2583 0.1624 0.2038 0.3333 0.2108 0.2391 0.3231 0.2906 het 503.44 52 1 197480927 . C T 503.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.429;DP=52;Dels=0.00;FS=1.111;HRun=1;HaplotypeScore=1.9330;MQ=59.11;MQ0=0;MQRankSum=-0.410;QD=9.68;ReadPosRankSum=1.361;VQSLOD=5.9498;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,21:52:99:533,0,857 1 197896728 197896728 T C exonic LHX9 synonymous SNV LHX9:NM_020204:exon4:c.T741C:p.N247N,LHX9:NM_001014434:exon5:c.T714C:p.N238N 0.27 0.2 0.35 0.41 0.19 0.25 0.2363 0.1888 0.3681 0.4439 0.2756 0.1916 0.2192 0.2311 0.19 0.19 0.19 0.14 0.09 rs12046958 COSM3997126;COSM146721 1(breast);1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2454 0.1946 0.3571 0.1861 0.4427 0.2722 0.1926 0.2299 0.2322 0.2299 0.1979 0.3520 0.1523 0.4653 0.2680 0.2093 0.2265 het 4223.41 250 1 197896728 . T C 4223.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.390;DP=250;DS;Dels=0.00;FS=7.896;HRun=0;HaplotypeScore=6.4147;MQ=59.27;MQ0=0;MQRankSum=0.031;QD=16.89;ReadPosRankSum=-0.821;VQSLOD=4.1754;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:121,129:250:99:3512,0,3500 1 200017586 200017586 C G exonic NR5A2 synonymous SNV NR5A2:NM_001276464:exon4:c.C534G:p.P178P,NR5A2:NM_003822:exon4:c.C612G:p.P204P,NR5A2:NM_205860:exon5:c.C750G:p.P250P 0.23 0.52 0.17 0.04 0.18 0.13 0.1886 0.4946 0.1209 0.0379 0.1996 0.1848 0.1773 0.1339 0.28 0.48 0.18 0.4 0.16 rs2821368 COSM3750738;COSM4417670 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1827 0.5044 0.1338 0.2885 0.0365 0.1971 0.1767 0.1927 0.1333 0.2576 0.4939 0.1400 0.2815 0.0389 0.2023 0.1672 0.1898 het 2127.92 188 1 200017586 . C G 2127.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.592;DP=188;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7215;MQ=59.23;MQ0=0;MQRankSum=0.001;QD=11.32;ReadPosRankSum=-1.709;VQSLOD=3.2023;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,82:188:99:2158,0,3077 1 200522566 200522566 G C exonic KIF14 nonsynonymous SNV KIF14:NM_001305792:exon28:c.C3424G:p.P1142A,KIF14:NM_014875:exon30:c.C4897G:p.P1633A 0.22 0.042 0.2 0.23 0.39 0.28 0.3203 0.0887 0.1753 0.2305 0.2640 0.3999 0.3223 0.3156 0.31 0.1 0.41 0.23 0.25 rs12120084 COSM3750739 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.091 0.318 T 0.307 0.310 B 0.079 0.272 B 0.577 0.112 N 1 0.090 P 1.195 0.303 L -0.77 0.735 T -2.06 0.471 N 0.044 0.024 -1.020 0.238 T 0.000 0.000 T . . . -0.976 0.033 0.018 0.823 0.137 0.104 0.158 N c -0.907 -0.972 0.000 0.069 0.706 0.609 0 0.605 0.167 -0.045 0.119 0.108 0.203 0.005 0.169 0.017 0.128 7.343 0.257 . ENSG00000260088.1|ENSG00000260088.1|ENSG00000260088.1|ENSG00000260088.1|ENSG00000260088.1|ENSG00000118200.10|ENSG00000260088.1|ENSG00000260088.1|ENSG00000260088.1|ENSG00000260088.1 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Ovary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3185 0.0847 0.1886 0.4275 0.2319 0.2609 0.4049 0.3416 0.3140 0.2696 0.0894 0.2093 0.4272 0.2261 0.2695 0.3773 0.3020 hom 4734.73 163 1 200522566 . G C 4734.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.920;DP=163;Dels=0.00;FS=4.122;HRun=0;HaplotypeScore=6.9557;MQ=58.94;MQ0=0;MQRankSum=1.625;QD=29.05;ReadPosRankSum=1.283;VQSLOD=3.3733;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,161:163:99:4702,366,0 1 200534248 200534248 C T exonic KIF14 synonymous SNV KIF14:NM_001305792:exon23:c.G2547A:p.E849E,KIF14:NM_014875:exon25:c.G4020A:p.E1340E 0.56 0.41 0.55 0.69 0.58 0.64 0.5717 0.4187 0.4951 0.6811 0.5206 0.5836 0.6123 0.6349 0.54 0.43 0.59 0.53 0.48 rs7543730 COSM3746712 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5730 0.4154 0.5056 0.6579 0.6801 0.5190 0.5825 0.5913 0.6386 0.5250 0.4177 0.4868 0.6093 0.6865 0.5287 0.5686 0.5400 hom 5199.99 165 1 200534248 . C T 5199.99 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=31.52;VQSLOD=9.7207;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,165:165:99:5199,412,0 1 200558363 200558363 T C exonic KIF14 synonymous SNV KIF14:NM_001305792:exon16:c.A1623G:p.E541E,KIF14:NM_014875:exon18:c.A3096G:p.E1032E 0.77 0.9 0.67 0.69 0.75 0.75 0.7515 0.8819 0.5923 0.6804 0.7442 0.7675 0.7671 0.7556 0.81 0.88 0.77 0.79 0.59 rs6665951 COSM3746713 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7468 0.8865 0.6090 0.8320 0.6804 0.7535 0.7659 0.7664 0.7574 0.7926 0.8873 0.6100 0.8411 0.6856 0.7478 0.7711 0.7556 hom 4314.27 139 1 200558363 . T C 4314.27 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.57;MQ0=0;QD=31.04;VQSLOD=9.5849;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:139:99:4286,325,0 1 200618238 200618238 T C exonic DDX59 synonymous SNV DDX59:NM_001320182:exon3:c.A1089G:p.S363S,DDX59:NM_001349803:exon5:c.A1179G:p.S393S,DDX59:NM_001031725:exon6:c.A1431G:p.S477S,DDX59:NM_001320181:exon6:c.A1431G:p.S477S,DDX59:NM_001349799:exon6:c.A1431G:p.S477S,DDX59:NM_001349800:exon6:c.A1431G:p.S477S,DDX59:NM_001349801:exon6:c.A1431G:p.S477S,DDX59:NM_001349802:exon6:c.A1431G:p.S477S 0.96 0.91 0.97 1. 0.95 0.98 0.9654 0.9196 0.9777 1 0.9864 0.9605 0.9780 0.9778 0.95 0.92 0.96 0.9 0.97 rs6665604 COSM3746716;COSM3746714;COSM3746715 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9665 0.9213 0.9729 0.9593 0.9999 0.9881 0.9601 0.9660 0.9776 0.9587 0.9261 0.9702 0.9371 1 0.9911 0.9647 0.9715 hom 4914.37 162 1 200618238 . T C 4914.37 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=58.81;MQ0=0;QD=30.34;VQSLOD=9.0380;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:162:99:4875,376,0 1 200956288 200956288 A G exonic KIF21B synonymous SNV KIF21B:NM_001252100:exon25:c.T3450C:p.A1150A,KIF21B:NM_001252102:exon25:c.T3450C:p.A1150A,KIF21B:NM_001252103:exon25:c.T3450C:p.A1150A,KIF21B:NM_017596:exon25:c.T3450C:p.A1150A 0.26 0.45 0.2 0.29 0.15 0.13 0.2030 0.4329 0.1785 0.2949 0.2299 0.1809 0.1759 0.1084 0.26 0.42 0.18 0.32 0.16 rs2275485 COSM4418799;COSM4418798 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2001 0.4368 0.1795 0.1793 0.2934 0.2332 0.1802 0.1953 0.1085 0.2726 0.4320 0.2005 0.14 0.2884 0.2260 0.2002 0.2065 het 1769.75 182 1 200956288 . A G 1769.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.499;DP=182;DS;Dels=0.00;FS=0.607;HRun=1;HaplotypeScore=9.0659;MQ=59.62;MQ0=0;MQRankSum=1.335;QD=9.72;ReadPosRankSum=-1.381;VQSLOD=3.6858;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:108,74:182:99:1800,0,3021 1 200959302 200959302 G A exonic KIF21B synonymous SNV KIF21B:NM_001252100:exon20:c.C2994T:p.D998D,KIF21B:NM_001252102:exon20:c.C2994T:p.D998D,KIF21B:NM_001252103:exon20:c.C2994T:p.D998D,KIF21B:NM_017596:exon20:c.C2994T:p.D998D 0.26 0.45 0.2 0.3 0.15 0.13 0.2033 0.4295 0.1783 0.3054 0.2300 0.1801 0.1748 0.1087 0.26 0.42 0.18 0.3 0.17 rs2297911 COSM3750743;COSM3997138 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2004 0.4367 0.1799 0.1731 0.3023 0.2334 0.1799 0.1945 0.1086 0.2731 0.4319 0.2010 0.1358 0.2996 0.2264 0.2000 0.2092 het 2126.81 161 1 200959302 . G A 2126.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.113;DP=161;Dels=0.00;FS=4.689;HRun=1;HaplotypeScore=6.8436;MQ=59.34;MQ0=0;MQRankSum=0.024;QD=13.21;ReadPosRankSum=0.635;VQSLOD=4.1028;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,79:161:99:2157,0,2112 1 201009182 201009182 A G exonic CACNA1S nonsynonymous SNV CACNA1S:NM_000069:exon44:c.T5399C:p.L1800S 0.23 0.61 0.1 0.11 0.11 0.061 0.1549 0.5567 0.0832 0.1262 0.1403 0.1312 0.1344 0.0698 0.27 0.54 0.13 0.33 0.14 rs12139527 COSM3997139 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign not_specified|Hypokalemic_periodic_paralysis|Malignant_hyperthermia_susceptibility RCV000242685.2|RCV000311084.1|RCV000368150.1 MedGen|MedGen:Orphanet|MedGen:Orphanet CN169374|C0238358:ORPHA681|C0024591:ORPHA423 . . . . . . 0.001 0.784 D 0.999 0.764 D 0.994 0.807 D . . . 0.128 0.356 P 2.085 0.579 M 0.56 0.546 T -1.75 0.414 N 0.11 0.118 -0.869 0.506 T 0.000 0.000 T . . . 5.977 0.821 27.7 0.999 0.942 0.966 0.698 D c 0.602 0.569 0.901 0.261 0.487 0.133 0 4.93 0.643 3.816 0.551 0.990 0.601 0.968 0.339 0.346 0.245 8.908 0.345 . ENSG00000234132.1|ENSG00000234132.1|ENSG00000229191.1|ENSG00000229191.1 Muscle_Skeletal|Testis|Testis|Whole_Blood 0.1461 0.5622 0.0874 0.1577 0.1259 0.1399 0.1298 0.1559 0.0723 0.2456 0.5464 0.0945 0.1325 0.1258 0.1297 0.1279 0.1449 het 1605.59 137 1 201009182 . A G 1605.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.984;DP=137;Dels=0.00;FS=1.727;HRun=0;HaplotypeScore=6.4870;MQ=59.56;MQ0=0;MQRankSum=-0.634;QD=11.72;ReadPosRankSum=-1.191;VQSLOD=4.4679;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,62:137:99:1636,0,2272 1 201047075 201047075 A G exonic CACNA1S synonymous SNV CACNA1S:NM_000069:exon11:c.T1551C:p.G517G 0.57 0.94 0.65 0.23 0.66 0.28 0.5839 0.8970 0.5714 0.2245 0.5327 0.6553 0.5573 0.3168 0.74 0.88 0.66 0.67 0.69 rs4915477 COSM4143154 1(thyroid) Benign|Benign|Benign not_specified|Hypokalemic_periodic_paralysis|Malignant_hyperthermia_susceptibility RCV000249332.1|RCV000305536.1|RCV000397592.1 MedGen|MedGen:Orphanet|MedGen:Orphanet CN169374|C0238358:ORPHA681|C0024591:ORPHA423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5789 0.8985 0.5872 0.7038 0.2243 0.5350 0.6546 0.6124 0.3211 0.6651 0.8925 0.5788 0.72 0.2376 0.5393 0.6180 0.5665 het 1758.45 115 1 201047075 . A G 1758.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.484;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4494;MQ=59.31;MQ0=0;MQRankSum=1.889;QD=15.29;ReadPosRankSum=-0.701;VQSLOD=5.0072;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,70:115:99:1788,0,1152 1 201047111 201047111 A G exonic CACNA1S synonymous SNV CACNA1S:NM_000069:exon11:c.T1515C:p.C505C 0.13 0.028 0.2 0.001 0.34 0.12 0.2449 0.0718 0.1196 0.0010 0.2033 0.3544 0.2225 0.1449 0.28 0.079 0.38 0.098 0.4 rs9427714 . . Benign|Benign|Benign not_specified|Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis RCV000248209.2|RCV000307850.1|RCV000399670.1 MedGen|MedGen:Orphanet|MedGen:Orphanet CN169374|C0024591:ORPHA423|C0238358:ORPHA681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2417 0.0647 0.1399 0.3024 0.0004 0.2051 0.3619 0.2537 0.1442 0.2296 0.0736 0.1563 0.2947 0.0018 0.2092 0.3496 0.2755 het 2368.39 170 1 201047111 . A G 2368.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.694;DP=170;Dels=0.00;FS=0.596;HRun=0;HaplotypeScore=6.3786;MQ=59.26;MQ0=0;MQRankSum=0.952;QD=13.93;ReadPosRankSum=1.463;VQSLOD=4.4541;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,90:170:99:2398,0,2003 1 201052310 201052310 A T exonic CACNA1S nonsynonymous SNV CACNA1S:NM_000069:exon10:c.T1373A:p.L458H 0.13 0.026 0.2 0.001 0.34 0.12 0.2428 0.0700 0.1187 0.0027 0.2055 0.3508 0.2223 0.1446 0.27 0.076 0.38 . 0.4 rs12742169 COSM4143155 1(thyroid) Benign|Benign|Benign not_specified|Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis RCV000250616.2|RCV000344481.1|RCV000397218.1 MedGen|MedGen:Orphanet|MedGen:Orphanet CN169374|C0024591:ORPHA423|C0238358:ORPHA681 . . . . . . 0.222 0.193 T 0.835 0.443 P 0.466 0.448 P 0.631 0.058 N 1.000 0.182 P 1.38 0.345 L -4.47 0.976 D 1.7 0.006 N 0.111 0.120 -0.999 0.301 T 0.000 0.000 T . . . 2.492 0.361 19.42 0.934 0.226 0.483 0.279 N c 0.234 0.262 0.008 0.116 0.447 0.083 0 3.39 0.378 3.188 0.504 1.187 0.908 0.742 0.288 0.995 0.604 4.02 0.091 Ion transport domain|Voltage-dependent channel\x2c four helix bundle domain . . 0.2401 0.0628 0.1397 0.2989 0.0005 0.2073 0.3591 0.2525 0.1435 0.2263 0.0720 0.1547 0.2833 0.0019 0.2119 0.3441 0.2742 het 1367.96 97 1 201052310 . A T 1367.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.382;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5491;MQ=58.41;MQ0=0;MQRankSum=-0.213;QD=14.10;ReadPosRankSum=0.025;VQSLOD=4.9757;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,52:97:99:1398,0,1293 1 201052312 201052312 A C exonic CACNA1S synonymous SNV CACNA1S:NM_000069:exon10:c.T1371G:p.P457P 0.13 0.026 0.2 0.001 0.34 0.12 0.2428 0.0700 0.1188 0.0027 0.2053 0.3509 0.2228 0.1446 0.27 0.076 0.38 . 0.4 rs12742170 COSM4143156 1(thyroid) Benign|Benign|Benign not_specified|Hypokalemic_periodic_paralysis|Malignant_hyperthermia_susceptibility RCV000245662.2|RCV000314241.1|RCV000371257.1 MedGen|MedGen:Orphanet|MedGen:Orphanet CN169374|C0238358:ORPHA681|C0024591:ORPHA423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2401 0.0628 0.1396 0.2991 0.0005 0.2073 0.3590 0.2526 0.1434 0.2263 0.0721 0.1539 0.2833 0.0019 0.2117 0.3443 0.2731 het 1550.79 100 1 201052312 . A C 1550.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.420;DP=100;Dels=0.00;FS=1.074;HRun=0;HaplotypeScore=3.7507;MQ=58.46;MQ0=0;MQRankSum=0.319;QD=15.51;ReadPosRankSum=0.011;VQSLOD=5.6796;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,54:100:99:1581,0,1239 1 201060865 201060865 G A exonic CACNA1S synonymous SNV CACNA1S:NM_000069:exon5:c.C597T:p.I199I 0.31 0.052 0.4 0.39 0.41 0.38 0.3887 0.1029 0.3542 0.3588 0.3679 0.4304 0.3825 0.4481 0.33 0.11 0.44 0.29 0.38 rs2296383 COSM4143157 1(bone);1(thyroid) Benign|Benign|Benign not_specified|Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis RCV000251904.2|RCV000330113.1|RCV000389135.1 MedGen|MedGen:Orphanet|MedGen:Orphanet CN169374|C0024591:ORPHA423|C0238358:ORPHA681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3900 0.0999 0.3508 0.4607 0.3573 0.3669 0.4290 0.3812 0.4491 0.3251 0.1063 0.3421 0.4503 0.3453 0.3780 0.4281 0.4236 het 1885.21 129 1 201060865 . G A 1885.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.755;DP=129;Dels=0.00;FS=20.574;HRun=1;HaplotypeScore=2.9194;MQ=59.64;MQ0=0;MQRankSum=1.859;QD=14.61;ReadPosRankSum=-0.789;VQSLOD=2.2981;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,63:129:99:1915,0,1820 1 201112981 201112981 A G exonic TMEM9 synonymous SNV TMEM9:NM_001288565:exon4:c.T366C:p.Y122Y,TMEM9:NM_001288564:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288566:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288567:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288568:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288569:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288570:exon5:c.T375C:p.Y125Y,TMEM9:NM_001288571:exon5:c.T441C:p.Y147Y,TMEM9:NM_016456:exon5:c.T366C:p.Y122Y 0.69 0.64 0.71 0.63 0.76 0.75 0.7481 0.6552 0.7542 0.6292 0.7885 0.7737 0.7212 0.7465 0.73 0.66 0.77 0.75 0.81 rs8158 COSM146726 1(stomach);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7484 0.6545 0.7532 0.7485 0.6322 0.7872 0.7705 0.7393 0.7478 0.7396 0.6534 0.7578 0.7616 0.6205 0.7978 0.7846 0.7821 het 762.15 77 1 201112981 . A G 762.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.803;DP=77;Dels=0.00;FS=0.898;HRun=0;HaplotypeScore=3.4107;MQ=58.72;MQ0=0;MQRankSum=-1.290;QD=9.90;ReadPosRankSum=-0.768;VQSLOD=5.3479;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,30:77:99:792,0,1242 1 201122947 201122947 T G exonic TMEM9 synonymous SNV TMEM9:NM_001288571:exon2:c.A105C:p.T35T 0.94 0.95 0.96 0.88 0.95 0.97 0.9443 0.9419 0.9394 0.8703 0.9328 0.9509 0.9340 0.9659 0.95 0.94 0.95 0.97 . rs1925361 COSM4143159 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9418 0.9408 0.9390 0.9269 0.8653 0.9365 0.9512 0.9386 0.9631 0.9437 0.9397 0.9415 0.9437 0.8529 0.9450 0.9548 0.9572 hom 1582.64 52 1 201122947 . T G 1582.64 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3670;MQ=58.20;MQ0=0;QD=30.44;VQSLOD=7.8823;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1616,138,0 1 201182609 201182609 G A exonic IGFN1 nonsynonymous SNV IGFN1:NM_001164586:exon12:c.G8588A:p.R2863Q 0.0086 . 0.0072 0.002 0.013 0.024 0.0119 0.0027 0.0067 0 0.0249 0.0122 0.0254 0.0203 0.011 0.0027 0.016 . 0.0082 rs61742375 . . . . . . . . . . . . . 0.412 0.101 T 0.229 0.288 B 0.031 0.206 B 0.973 0.078 N 1 0.090 N 1.67 0.430 L 0.44 0.566 T -0.11 0.087 N 0.021 0.052 -1.078 0.078 T 0.044 0.188 T . . . 0.027 0.096 2.847 0.505 0.043 0.008 0.031 N c -1.369 -1.483 0.004 0.104 0.487 0.133 0 -2.54 0.059 -1.576 0.022 -1.146 0.017 0.000 0.063 0.000 0.016 8.178 0.303 . . . 0.0125 0.0020 0.0054 0.0153 0 0.0268 0.0129 0.0162 0.0195 0.0117 0.0023 0.0036 0.0166 0 0.0301 0.0142 0.0143 het 1479.34 107 1 201182609 . G A 1479.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.021;DP=107;Dels=0.00;FS=2.687;HRun=0;HaplotypeScore=3.8153;MQ=58.72;MQ0=0;MQRankSum=0.868;QD=13.83;ReadPosRankSum=-1.586;VQSLOD=5.1338;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,53:107:99:1509,0,1355 1 201183363 201183363 C T exonic IGFN1 synonymous SNV IGFN1:NM_001164586:exon13:c.C8787T:p.A2929A 0.33 0.25 0.32 0.31 0.35 0.42 0.3309 0.2652 0.2791 0.3460 0.3297 0.3360 0.3374 0.3800 0.31 0.27 0.33 0.35 0.25 rs2282415 COSM3750751;COSM3750752 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3281 0.2644 0.2948 0.2907 0.3429 0.3243 0.3349 0.3311 0.3774 0.3172 0.2739 0.2971 0.3 0.3493 0.3307 0.3378 0.3101 hom 2018.15 65 1 201183363 . C T 2018.15 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.09;MQ0=0;QD=31.05;VQSLOD=8.5588;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2051,159,0 1 201183402 201183402 T C exonic IGFN1 synonymous SNV IGFN1:NM_001164586:exon13:c.T8826C:p.P2942P 0.32 0.19 0.33 0.34 0.35 0.42 0.3305 0.2114 0.2971 0.3783 0.3328 0.3356 0.3396 0.3815 0.29 0.22 0.33 0.3 0.27 rs1568810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3290 0.2109 0.3092 0.2765 0.3717 0.3294 0.3353 0.3319 0.3786 0.3040 0.2196 0.3079 0.2933 0.3739 0.3372 0.3376 0.3088 hom 2600.01 87 1 201183402 . T C 2600.01 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=58.58;MQ0=0;QD=29.89;VQSLOD=8.9016;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2633,211,0 1 201184275 201184275 C T exonic IGFN1 synonymous SNV IGFN1:NM_001164586:exon14:c.C8988T:p.T2996T 0.33 0.24 0.33 0.35 0.35 0.42 0.3371 0.2592 0.2976 0.3818 0.3390 0.3375 0.3484 0.3881 0.31 0.27 0.34 0.33 0.3 rs2275673 COSM5448317;COSM5448318 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3339 0.2586 0.3110 0.2945 0.3748 0.3297 0.3365 0.3360 0.3791 0.3181 0.2670 0.3110 0.2980 0.3762 0.3377 0.3383 0.3088 hom 1980.04 63 1 201184275 . C T 1980.04 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7819;MQ=59.04;MQ0=0;QD=31.43;VQSLOD=9.1402;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2013,159,0 1 201187764 201187764 T C exonic IGFN1 synonymous SNV IGFN1:NM_001164586:exon18:c.T9876C:p.A3292A 0.93 0.96 0.85 1. 0.89 0.91 0.8916 0.9538 0.8148 0.9993 0.9397 0.8801 0.8811 0.8778 0.9 0.95 0.88 0.95 0.86 rs10920144 COSM3750758;COSM3750757 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8874 0.9555 0.8241 0.7871 0.9992 0.9337 0.8846 0.8877 0.8747 0.9189 0.9570 0.8409 0.7848 0.9994 0.9450 0.8900 0.9041 hom 2082.13 69 1 201187764 . T C 2082.13 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=30.18;VQSLOD=8.4416;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2115,171,0 1 201195119 201195119 C T exonic IGFN1 nonsynonymous SNV IGFN1:NM_001164586:exon22:c.C10654T:p.H3552Y 0.57 0.2 0.59 0.83 0.7 0.64 0.6315 0.2792 0.5636 0.8222 0.6606 0.6722 0.6609 0.6219 0.54 0.29 0.67 0.52 0.59 rs3738270 COSM424999;COSM424998 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.04 0.421 D 0.076 0.227 B 0.11 0.299 B 0.005 0.330 N 0.999 0.588 P 0.5 0.134 N 0.4 0.573 T -1.87 0.437 N 0.154 0.232 -1.033 0.195 T 0.000 0.000 T . . . 2.138 0.318 17.10 0.842 0.146 0.584 0.304 D c -0.112 -0.073 0.001 0.075 0.497 0.185 0 3.09 0.345 2.888 0.480 0.013 0.140 1.000 0.715 0.080 0.181 6.551 0.215 Fibronectin type III|Immunoglobulin-like fold . . 0.6330 0.2684 0.5807 0.5458 0.8261 0.6596 0.6793 0.6449 0.6031 0.5660 0.2865 0.5789 0.5596 0.8296 0.6685 0.6717 0.6230 hom 1928.21 60 1 201195119 . C T 1928.21 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.96;MQ0=0;QD=32.14;VQSLOD=9.7416;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1961,159,0 1 201285759 201285759 A G exonic PKP1 synonymous SNV PKP1:NM_000299:exon4:c.A780G:p.K260K,PKP1:NM_001005337:exon4:c.A780G:p.K260K 0.97 0.89 0.99 1. 1. 1. 0.9892 0.9053 0.9961 1 1 0.9974 0.9900 0.9937 0.97 0.91 1. 0.95 0.98 rs1779297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9904 0.9000 0.9935 0.9787 1 1 0.9984 0.9903 0.9938 0.9708 0.9016 0.9928 0.9669 1 1 0.9988 0.9898 hom 1371.95 41 1 201285759 . A G 1371.95 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.46;VQSLOD=13.1398;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1405,111,0 1 201334382 201334382 G A exonic TNNT2 synonymous SNV TNNT2:NM_001001432:exon8:c.C303T:p.I101I,TNNT2:NM_001001430:exon9:c.C318T:p.I106I,TNNT2:NM_001001431:exon9:c.C318T:p.I106I,TNNT2:NM_001276347:exon9:c.C318T:p.I106I,TNNT2:NM_000364:exon10:c.C348T:p.I116I,TNNT2:NM_001276345:exon10:c.C348T:p.I116I 0.7 0.63 0.8 0.53 0.74 0.84 0.7194 0.6243 0.7690 0.5480 0.7971 0.7147 0.7775 0.8187 0.68 0.61 0.72 0.69 0.7 rs3729547 COSM4143201;COSM1337831;COSM4143200 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign\x2cUncertain significance not_specified|Cardiovascular_phenotype|Left_ventricular_noncompaction_cardiomyopathy|Dilated_Cardiomyopathy\x2c_Dominant|Familial_restrictive_cardiomyopathy|Hypertrophic_cardiomyopathy\x2cnot_specified RCV000036579.4|RCV000243565.1|RCV000262774.1|RCV000266465.1|RCV000321667.1|RCV000357724.1\x2cRCV000168966.2 MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen:Orphanet\x2cMedGen CN169374|CN230736|HP:0011664:C4021133|CN239310|C0340429:ORPHA217635:233878008|HP:0001639:C0007194:ORPHA217569\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7237 0.6147 0.7649 0.7724 0.5437 0.7888 0.7096 0.7523 0.8175 0.6921 0.6157 0.7685 0.7682 0.5336 0.7944 0.7202 0.7454 het 4183.08 250 1 201334382 . G A 4183.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.976;DP=250;DS;Dels=0.00;FS=8.118;HRun=1;HaplotypeScore=5.7411;MQ=58.85;MQ0=0;MQRankSum=-1.385;QD=16.73;ReadPosRankSum=0.075;VQSLOD=3.6809;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,128:250:99:3544,0,3045 1 201351421 201351421 T A exonic LAD1 nonsynonymous SNV LAD1:NM_005558:exon9:c.A1507T:p.T503S 0.046 0.0076 0.052 0.06 0.072 0.051 0.0720 0.0184 0.0726 0.0651 0.0493 0.0863 0.0519 0.0614 0.062 0.023 0.082 0.011 0.074 rs2275866 . . . . . . . . . . . . . 0.399 0.237 T 0.206 0.282 B 0.124 0.310 B 0.209 0.164 N 1.000 0.205 N 2.52 0.738 M 0.96 0.429 T -1.06 0.297 N 0.079 0.071 -1.069 0.095 T 0.005 0.015 T . . . 1.117 0.201 11.31 0.879 0.170 0.481 0.279 N c -0.605 -0.588 1.000 0.473 0.661 0.498 0 0.451 0.158 0.064 0.142 0.076 0.183 0.833 0.299 0.352 0.246 3.250 0.064 . . . 0.0709 0.0175 0.0742 0.0710 0.0655 0.0485 0.0857 0.0636 0.0611 0.0615 0.0183 0.0740 0.0695 0.0686 0.0476 0.0870 0.0821 het 2852.87 242 1 201351421 . T A 2852.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.050;DP=242;DS;Dels=0.00;FS=5.481;HRun=0;HaplotypeScore=4.4399;MQ=59.17;MQ0=0;MQRankSum=0.306;QD=11.79;ReadPosRankSum=1.596;VQSLOD=4.5539;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:116,125:242:99:2883,0,2852 1 201355522 201355522 T C exonic LAD1 nonsynonymous SNV LAD1:NM_005558:exon3:c.A967G:p.K323E 0.55 0.88 0.38 0.52 0.46 0.36 0.5229 0.8224 0.3619 0.5384 0.5098 0.5149 0.5120 0.4093 0.6 0.8 0.49 0.62 0.32 rs4128458 COSM4785154;COSM3750761 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.902 0.074 N 1 0.090 P -1.75 0.003 N 2.88 0.104 T 1.45 0.008 N 0.015 0.002 -1.015 0.252 T 0.000 0.000 T . . . -0.908 0.036 0.025 0.227 0.009 0.001 0.008 N c -1.437 -1.315 1.000 0.480 0.732 0.924 0 1.65 0.229 1.159 0.311 0.027 0.148 0.165 0.236 0.061 0.171 6.814 0.229 . ENSG00000159166.9 Esophagus_Mucosa 0.4966 0.8277 0.3580 0.5394 0.5197 0.4971 0.4878 0.4925 0.3803 0.5803 0.8108 0.3756 0.5662 0.5216 0.4839 0.4924 0.4866 het 279.18 34 1 201355522 . T C 279.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.031;DP=34;Dels=0.00;FS=1.917;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.436;QD=8.21;ReadPosRankSum=-2.282;VQSLOD=4.4628;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,11:34:99:309,0,651 1 201355943 201355943 C T exonic LAD1 synonymous SNV LAD1:NM_005558:exon3:c.G546A:p.K182K 0.52 0.75 0.38 0.52 0.46 0.36 0.4814 0.7095 0.3261 0.5141 0.4855 0.4932 0.4692 0.3814 0.56 0.69 0.49 0.56 0.5 rs2799677 COSM4785127;COSM3750762 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4748 0.7147 0.3404 0.5428 0.5186 0.4969 0.4899 0.4859 0.3828 0.5481 0.7022 0.3663 0.5667 0.5199 0.4834 0.4906 0.4806 het 1739.68 158 1 201355943 . C T 1739.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.802;DP=158;Dels=0.00;FS=7.390;HRun=2;HaplotypeScore=3.2962;MQ=57.70;MQ0=0;MQRankSum=-0.707;QD=11.01;ReadPosRankSum=1.233;VQSLOD=4.0459;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:93,65:158:99:1770,0,2537 1 201356002 201356004 CCA - exonic LAD1 nonframeshift deletion LAD1:NM_005558:exon3:c.485_487del:p.V162del 0.06 0.067 0.05 0.058 0.069 0.052 0.0777 0.0717 0.0809 0.0695 0.0553 0.0828 0.0749 0.0704 0.12 0.19 0.087 . . rs78190062 COSM5713045;COSM5713046 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0754 0.0661 0.0826 0.0736 0.0701 0.0554 0.0814 0.0746 0.0672 0.0682 0.0573 0.0766 0.0728 0.0722 0.0501 0.0772 0.0764 het 1558.01 102 1 201356001 . CCCA C 1558.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.087;DP=102;FS=2.766;HRun=0;HaplotypeScore=417.1740;MQ=55.67;MQ0=0;MQRankSum=-3.681;QD=15.13;ReadPosRankSum=0.817;set=variant2 GT:AD:DP:GQ:PL 0/1:65,38:102:99:1597,0,3558 1 201358304 201358304 C A exonic LAD1 nonsynonymous SNV LAD1:NM_005558:exon2:c.G166T:p.A56S 0.18 0.36 0.073 0.11 0.094 0.17 0.1338 0.3180 0.0988 0.1163 0.1246 0.1082 0.1197 0.1591 0.18 0.32 0.1 0.23 0.14 rs3738281 COSM3997141 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.943 0.023 T 0.038 0.254 B 0.034 0.275 B 0.369 0.043 U 1 0.090 P 0.69 0.170 N 2.77 0.115 T 0.34 0.040 N 0.032 0.012 -0.938 0.430 T 0.000 0.000 T . . . -1.095 0.029 0.010 0.193 0.006 0.048 0.104 N c -1.431 -1.418 1.000 0.410 0.626 0.397 0 0.998 0.189 -1.189 0.031 -1.660 0.008 0.000 0.063 0.004 0.083 5.229 0.146 . . . 0.1284 0.3249 0.1025 0.0971 0.1175 0.1258 0.1071 0.1201 0.1552 0.1684 0.3073 0.1086 0.0960 0.1159 0.1331 0.1087 0.1344 het 1900.16 159 1 201358304 . C A 1900.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.325;DP=159;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.6630;MQ=59.20;MQ0=0;MQRankSum=0.802;QD=11.95;ReadPosRankSum=3.429;VQSLOD=3.2030;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,73:159:99:1930,0,2466 1 201869257 201869257 G A exonic LMOD1 nonsynonymous SNV LMOD1:NM_012134:exon2:c.C884T:p.T295M 0.22 0.2 0.22 0.1 0.3 0.26 0.2790 0.2205 0.2611 0.1030 0.2989 0.3112 0.2650 0.2809 0.28 0.21 0.31 0.22 . rs2820312 COSM3997144 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.288 0.151 T 0.004 0.515 B 0.002 0.314 B 0.220 0.034 N 1 0.090 P 0.345 0.112 N -3.03 0.923 D -0.46 0.150 N 0.062 0.048 -1.046 0.156 T 0.000 0.000 T . . . 0.006 0.094 2.646 0.858 0.156 0.561 0.298 D c -1.508 -1.505 1.000 0.407 0.615 0.372 0 0.581 0.165 0.115 0.153 -2.238 0.004 0.000 0.063 0.000 0.016 8.724 0.334 . ENSG00000223774.1|ENSG00000163431.11|ENSG00000223774.1|ENSG00000223774.1|ENSG00000163431.11|ENSG00000223774.1|ENSG00000163431.11|ENSG00000223774.1|ENSG00000163431.11|ENSG00000163431.11|ENSG00000198892.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Thyroid 0.2780 0.2164 0.2529 0.1892 0.1068 0.3043 0.3227 0.2665 0.2815 0.2830 0.2239 0.2422 0.2119 0.1035 0.3088 0.3339 0.2914 hom 1819.53 58 1 201869257 . G A 1819.53 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.672;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8109;MQ=58.11;MQ0=0;MQRankSum=1.611;QD=31.37;ReadPosRankSum=0.456;VQSLOD=6.1173;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,56:58:99:1853,153,0 1 201969082 201969082 G A exonic RNPEP synonymous SNV RNPEP:NM_001319183:exon5:c.G273A:p.Q91Q,RNPEP:NM_001319184:exon5:c.G273A:p.Q91Q,RNPEP:NM_001319182:exon6:c.G750A:p.Q250Q,RNPEP:NM_020216:exon6:c.G1143A:p.Q381Q 0.31 0.16 0.44 0.4 0.43 0.21 0.3890 0.1733 0.4256 0.4336 0.4019 0.4454 0.3770 0.2415 0.35 0.18 0.43 0.33 0.27 rs1130790 COSM146734;COSM4143213 1(stomach);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3940 0.1692 0.4307 0.4733 0.4353 0.3892 0.4436 0.4264 0.2353 0.3637 0.1828 0.4306 0.4238 0.4594 0.3927 0.4440 0.4153 hom 1337.95 46 1 201969082 . G A 1337.95 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;QD=29.09;VQSLOD=8.8637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1371,108,0 1 201970562 201970562 T C exonic RNPEP synonymous SNV RNPEP:NM_001319183:exon6:c.T393C:p.V131V,RNPEP:NM_001319184:exon6:c.T393C:p.V131V,RNPEP:NM_001319182:exon7:c.T870C:p.V290V,RNPEP:NM_020216:exon7:c.T1263C:p.V421V 0.98 0.92 0.99 1. 1. 1. 0.9938 0.9325 0.9965 1 1 0.9998 0.9978 1 0.98 0.94 1. 0.97 1. rs4332408 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9950 0.9297 0.9965 0.9997 1 1 0.9998 0.9969 0.9999 0.9810 0.9344 0.9928 1 1 1 0.9996 0.9959 hom 3467.89 112 1 201970562 . T C 3467.89 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7653;MQ=60.00;MQ0=0;QD=30.96;VQSLOD=8.8081;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3468,262,0 1 202092332 202092332 C G exonic GPR37L1 nonsynonymous SNV GPR37L1:NM_004767:exon1:c.C241G:p.P81A 0.22 0.31 0.26 0.34 0.061 0.13 0.1421 0.2906 0.3184 0.3507 0.0733 0.0698 0.1312 0.1356 0.14 0.28 0.062 0.24 0.066 rs3795594 COSM3750765 1(large_intestine) . . . . . . . . . . . 0.074 0.346 T 0.0 0.026 B 0.0 0.013 B 0.931 0.075 N 1 0.090 P 1.43 0.360 L -1.22 0.788 T -0.83 0.227 N 0.034 0.017 -1.030 0.204 T 0.000 0.000 T . . . 0.017 0.095 2.751 0.907 0.193 0.064 0.123 N c -0.866 -0.860 0.955 0.281 0.497 0.185 0 -0.693 0.107 -1.196 0.031 -0.035 0.126 0.000 0.063 0.963 0.446 3.917 0.087 . . . 0.1439 0.2909 0.3080 0.1111 0.3373 0.0733 0.0638 0.1263 0.1373 0.1447 0.2815 0.2943 0.1225 0.3333 0.0737 0.0563 0.1029 het 921.45 68 1 202092332 . C G 921.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.442;DP=68;Dels=0.00;FS=1.000;HRun=1;HaplotypeScore=6.8484;MQ=59.27;MQ0=0;MQRankSum=1.203;QD=13.55;ReadPosRankSum=-0.086;VQSLOD=4.1377;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:33,35:68:99:951,0,903 1 202092360 202092360 G A exonic GPR37L1 nonsynonymous SNV GPR37L1:NM_004767:exon1:c.G269A:p.G90D 0.85 0.78 0.83 0.84 0.91 0.92 0.8861 0.7940 0.8303 0.8242 0.9472 0.9033 0.9056 0.9200 0.87 0.81 0.89 0.8 0.9 rs3795595 COSM3997145 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.059 0.224 N 1 0.090 P -1.995 0.002 N -1.25 0.791 T 2.04 0.004 N 0.018 0.003 -0.986 0.337 T 0.000 0.000 T . . . -0.929 0.035 0.022 0.109 0.002 0.016 0.052 N c -1.390 -1.312 0.952 0.279 0.497 0.185 0 -0.436 0.116 -0.480 0.066 0.168 0.246 0.000 0.063 0.987 0.523 5.969 0.185 . . . 0.8850 0.7948 0.8281 0.8571 0.8252 0.9511 0.9037 0.8874 0.9182 0.8765 0.7910 0.8413 0.8676 0.8294 0.9502 0.9139 0.9151 het 1025.04 83 1 202092360 . G A 1025.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.539;DP=83;Dels=0.00;FS=3.244;HRun=0;HaplotypeScore=2.8120;MQ=58.55;MQ0=0;MQRankSum=-0.682;QD=12.35;ReadPosRankSum=-0.673;VQSLOD=5.2558;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,40:83:99:1055,0,1061 1 202092415 202092415 A G exonic GPR37L1 synonymous SNV GPR37L1:NM_004767:exon1:c.A324G:p.G108G 0.85 0.78 0.83 0.84 0.91 0.92 0.8870 0.8008 0.8315 0.8274 0.9470 0.9033 0.9051 0.9204 0.87 0.82 0.89 0.8 0.92 rs3795596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8857 0.8006 0.8289 0.8572 0.8276 0.9510 0.9038 0.8878 0.9186 0.8782 0.7962 0.8413 0.8676 0.8325 0.9502 0.9139 0.9141 het 1594.18 117 1 202092415 . A G 1594.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.107;DP=117;Dels=0.00;FS=1.485;HRun=2;HaplotypeScore=9.7394;MQ=58.48;MQ0=0;MQRankSum=1.195;QD=13.63;ReadPosRankSum=0.494;VQSLOD=4.3446;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:58,59:117:99:1624,0,1543 1 202092580 202092580 T C exonic GPR37L1 synonymous SNV GPR37L1:NM_004767:exon1:c.T489C:p.S163S 0.83 0.71 0.82 0.84 0.91 0.92 0.8819 0.7423 0.8287 0.8298 0.9474 0.9033 0.9051 0.9204 0.85 0.76 0.89 0.8 0.92 rs7516762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8814 0.7393 0.8251 0.8560 0.8302 0.9511 0.9037 0.8852 0.9185 0.8607 0.7345 0.8401 0.8642 0.8369 0.9505 0.9135 0.9114 het 797.49 64 1 202092580 . T C 797.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.155;DP=64;Dels=0.00;FS=5.109;HRun=0;HaplotypeScore=0.6651;MQ=59.64;MQ0=0;MQRankSum=1.720;QD=12.46;ReadPosRankSum=-0.322;VQSLOD=5.7771;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,33:64:99:827,0,842 1 202276494 202276494 C T exonic LGR6 synonymous SNV LGR6:NM_001017404:exon12:c.C828T:p.P276P,LGR6:NM_001017403:exon14:c.C1245T:p.P415P,LGR6:NM_021636:exon14:c.C1089T:p.P363P 0.53 0.27 0.64 0.72 0.54 0.61 0.5399 0.3039 0.7300 0.7050 0.5573 0.5070 0.5210 0.5958 0.44 0.31 0.5 0.53 0.46 rs896551 COSM3746729;COSM3746728 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5532 0.3005 0.7224 0.4109 0.7035 0.5648 0.5123 0.5308 0.5997 0.4766 0.3042 0.6758 0.3907 0.6989 0.5656 0.5196 0.5246 hom 6541.76 207 1 202276494 . C T 6541.76 Mask AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9795;MQ=58.85;MQ0=0;QD=31.60;VQSLOD=6.6577;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,207:207:99:6541,500,0 1 202287206 202287206 T C exonic LGR6 nonsynonymous SNV LGR6:NM_001017404:exon16:c.T1358C:p.V453A,LGR6:NM_001017403:exon18:c.T1775C:p.V592A,LGR6:NM_021636:exon18:c.T1619C:p.V540A 0.61 0.34 0.72 0.77 0.64 0.71 0.6340 0.3640 0.7820 0.7521 0.6557 0.6164 0.6366 0.7008 0.53 0.37 0.61 0.58 0.53 rs788795 COSM1748082;COSM3722364;COSM3930582 2(urinary_tract);1(liver);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.803 0.034 T 0.0 0.026 B 0.0 0.063 B 0.752 0.097 N 1 0.090 P -0.55 0.024 N -2.46 0.889 D 0.65 0.040 N 0.068 0.055 -0.987 0.335 T 0.000 0.000 T . . . -2.217 0.006 0.001 0.520 0.046 0.128 0.173 N c -1.374 -1.360 0.999 0.392 0.554 0.283 0 -5.15 0.026 0.144 0.158 0.044 0.157 0.000 0.063 0.003 0.074 10.392 0.432 Leucine-rich repeat domain\x2c L domain-like . . 0.6464 0.3624 0.7761 0.5813 0.7498 0.6599 0.6180 0.6435 0.7025 0.5637 0.3655 0.7363 0.5364 0.7417 0.6584 0.6243 0.6283 hom 3861.85 127 1 202287206 . T C 3861.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.751;DP=127;Dels=0.00;FS=9.469;HRun=5;HaplotypeScore=6.2167;MQ=59.19;MQ0=0;MQRankSum=-0.244;QD=30.41;ReadPosRankSum=-0.537;VQSLOD=2.6793;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,125:127:99:3793,260,0 1 202287537 202287537 G A exonic LGR6 synonymous SNV LGR6:NM_001017404:exon16:c.G1689A:p.A563A,LGR6:NM_001017403:exon18:c.G2106A:p.A702A,LGR6:NM_021636:exon18:c.G1950A:p.A650A 0.53 0.28 0.62 0.72 0.53 0.61 0.5457 0.3310 0.7283 0.7094 0.5688 0.4997 0.5466 0.6231 0.42 0.31 0.48 0.47 0.3 rs788794 COSM4143220;COSM3750769;COSM3750768 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5424 0.3086 0.7114 0.3991 0.7038 0.5465 0.4904 0.5156 0.6050 0.4601 0.3061 0.6535 0.3675 0.6993 0.5396 0.4930 0.5123 hom 621.79 23 1 202287537 . G A 621.79 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7046;MQ=56.91;MQ0=0;QD=27.03;VQSLOD=3.7180;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:60.13:655,60,0 1 202287813 202287813 T C exonic LGR6 synonymous SNV LGR6:NM_001017404:exon16:c.T1965C:p.F655F,LGR6:NM_001017403:exon18:c.T2382C:p.F794F,LGR6:NM_021636:exon18:c.T2226C:p.F742F 0.61 0.34 0.72 0.77 0.64 0.71 0.6340 0.3663 0.7821 0.7511 0.6543 0.6163 0.6358 0.7007 0.53 0.37 0.61 0.56 0.57 rs788793 COSM3746733;COSM3746732;COSM4143221 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6464 0.3644 0.7760 0.5815 0.7497 0.6594 0.6179 0.6440 0.7026 0.5643 0.3683 0.7345 0.5367 0.7401 0.6583 0.6242 0.6299 hom 5592.67 175 1 202287813 . T C 5592.67 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.936;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3118;MQ=59.36;MQ0=0;MQRankSum=1.493;QD=31.96;ReadPosRankSum=1.692;VQSLOD=8.7891;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,173:175:99:5554,435,0 1 202705455 202705455 G C exonic KDM5B synonymous SNV KDM5B:NM_001347591:exon20:c.C3015G:p.P1005P,KDM5B:NM_006618:exon21:c.C3150G:p.P1050P,KDM5B:NM_001314042:exon22:c.C3258G:p.P1086P 0.64 0.32 0.83 0.78 0.77 0.65 0.7394 0.3645 0.8558 0.7737 0.8102 0.7784 0.7770 0.6878 0.64 0.38 0.78 0.54 0.75 rs1141109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7528 0.3580 0.8540 0.8109 0.7696 0.7995 0.7750 0.7832 0.6913 0.6701 0.3727 0.8182 0.7848 0.7739 0.7977 0.7844 0.7745 het 1196.20 101 1 202705455 . G C 1196.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.003;DP=101;Dels=0.00;FS=0.738;HRun=1;HaplotypeScore=2.8313;MQ=59.40;MQ0=0;MQRankSum=-0.160;QD=11.84;ReadPosRankSum=0.459;VQSLOD=6.6606;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,48:101:99:1226,0,1309 1 202715284 202715284 G A exonic KDM5B synonymous SNV KDM5B:NM_001347591:exon14:c.C2049T:p.Y683Y,KDM5B:NM_006618:exon15:c.C2184T:p.Y728Y,KDM5B:NM_001314042:exon16:c.C2292T:p.Y764Y 0.64 0.32 0.83 0.78 0.77 0.64 0.7400 0.3646 0.8561 0.7735 0.8100 0.7789 0.7765 0.6903 0.64 0.38 0.78 0.54 0.75 rs1141108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7522 0.3602 0.8526 0.8103 0.7712 0.7995 0.7751 0.7825 0.6909 0.6704 0.3723 0.8182 0.7848 0.7726 0.7974 0.7855 0.7746 het 1142.50 99 1 202715284 . G A 1142.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.990;DP=99;Dels=0.00;FS=7.075;HRun=0;HaplotypeScore=0.8941;MQ=59.58;MQ0=0;MQRankSum=0.681;QD=11.54;ReadPosRankSum=0.540;VQSLOD=5.2507;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,43:99:99:1172,0,1465 1 202718202 202718202 G A exonic KDM5B synonymous SNV KDM5B:NM_001347591:exon13:c.C1752T:p.H584H,KDM5B:NM_006618:exon14:c.C1887T:p.H629H,KDM5B:NM_001314042:exon15:c.C1995T:p.H665H 0.52 0.24 0.67 0.52 0.74 0.57 0.6691 0.2987 0.6368 0.5314 0.7878 0.7472 0.7318 0.6305 0.6 0.31 0.75 0.48 0.69 rs1892164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6767 0.2906 0.6409 0.7929 0.5214 0.7772 0.7429 0.7260 0.6357 0.6131 0.3071 0.6495 0.7715 0.5130 0.7742 0.7517 0.7210 het 1897.22 143 1 202718202 . G A 1897.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.216;DP=143;Dels=0.00;FS=1.435;HRun=0;HaplotypeScore=9.7412;MQ=58.79;MQ0=0;MQRankSum=0.461;QD=13.27;ReadPosRankSum=1.371;VQSLOD=4.3251;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,72:143:99:1927,0,1843 1 202731846 202731846 G T exonic KDM5B nonsynonymous SNV KDM5B:NM_001347591:exon6:c.C764A:p.S255Y,KDM5B:NM_006618:exon7:c.C899A:p.S300Y,KDM5B:NM_001314042:exon8:c.C1007A:p.S336Y . . . . . . 8.239e-06 9.614e-05 0 0 0 0 0 0 0.0001 0.0002 . . . rs373039357 . . . . . . . . . . . . . 0.145 0.251 T 0.001 0.067 B 0.004 0.093 B 0.684 0.102 N 0.734 0.298 N 1.39 0.351 L -2.0 0.862 D -1.15 0.295 N 0.116 0.129 -0.226 0.770 T 0.567 0.843 D 0.043 0.607 D 2.835 0.401 21.5 0.757 0.108 0.931 0.570 D c 0.047 0.222 0.545 0.213 0.707 0.730 0 5.46 0.799 4.764 0.617 1.048 0.713 1.000 0.715 0.978 0.483 17.493 0.875 Zinc finger\x2c FYVE/PHD-type|Zinc finger\x2c PHD-finger|Zinc finger\x2c PHD-type|Zinc finger\x2c PHD-type\x2c conserved site|Zinc finger\x2c RING/FYVE/PHD-type;Zinc finger\x2c RING/FYVE/PHD-type . . 2.438e-05 6.537e-05 0 0 0 0 4.48e-05 0 0 3.23e-05 0 0 0 0 0 6.668e-05 0 het 2248.66 214 1 202731846 . G T 2248.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.029;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9800;MQ=57.56;MQ0=0;MQRankSum=-0.944;QD=10.51;ReadPosRankSum=-0.984;VQSLOD=2.7026;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:121,93:214:99:2279,0,3120 1 202733238 202733238 C T exonic KDM5B synonymous SNV KDM5B:NM_001347591:exon5:c.G612A:p.T204T,KDM5B:NM_006618:exon6:c.G747A:p.T249T,KDM5B:NM_001314042:exon7:c.G855A:p.T285T 0.64 0.32 0.83 0.77 0.77 0.64 0.7371 0.3644 0.8533 0.7551 0.8088 0.7781 0.7742 0.6840 0.64 0.38 0.78 0.54 0.73 rs3196669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7410 0.3487 0.8363 0.8069 0.7417 0.7959 0.7698 0.7677 0.6711 0.6698 0.3734 0.8170 0.7848 0.7540 0.7971 0.7858 0.7765 het 1441.81 98 1 202733238 . C T 1441.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.541;DP=98;Dels=0.00;FS=1.716;HRun=0;HaplotypeScore=4.8676;MQ=58.11;MQ0=0;MQRankSum=0.822;QD=14.71;ReadPosRankSum=0.564;VQSLOD=5.0812;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:42,56:98:99:1472,0,935 1 203028371 203028371 G T exonic PPFIA4 nonsynonymous SNV PPFIA4:NM_001304331:exon20:c.G2473T:p.A825S,PPFIA4:NM_001304332:exon20:c.G2473T:p.A825S 0.12 0.013 0.12 0.16 0.18 0.18 0.2219 0.0437 0.2861 0.2507 0.3577 0.2478 0.1962 0.1936 0.13 0.039 0.17 0.11 . rs61732315 COSM3750775;COSM3750776 1(large_intestine) . . . . . . . . . . . 0.102 0.344 T 0.011 0.479 B 0.01 0.576 B 0.000 0.449 D 0.000 0.588 P 2.695 0.791 M 2.17 0.250 T -1.7 0.452 N 0.194 0.354 -1.116 0.026 T 0.000 0.001 T . . . 3.204 0.444 22.7 0.997 0.775 0.994 0.961 D c 0.382 0.462 1.000 0.747 0.615 0.372 0 4.83 0.617 8.164 0.895 0.953 0.551 1.000 0.715 1.000 0.888 11.567 0.499 . . . 0.1574 0.0264 0.1456 0.1294 0.1468 0.2029 0.1677 0.1522 0.1756 0.1444 0.0372 0.1527 0.1391 0.1545 0.2252 0.1840 0.1823 het 113.19 16 1 203028371 . G T 113.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.241;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;MQRankSum=-0.530;QD=7.07;ReadPosRankSum=-0.177;VQSLOD=5.3240;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,7:16:99:143,0,245 1 203148633 203148633 A G exonic CHI3L1 synonymous SNV CHI3L1:NM_001276:exon10:c.T1092C:p.C364C 1. 1. 1. 1. 1. 1. 0.9988 0.9998 0.9998 0.9998 1 0.9982 0.9989 0.9984 1. 1. 1. 1. 0.9 rs4950927 COSM4143245 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9997 0.9996 1 0.9999 1.0000 0.9980 0.9994 0.9982 0.9990 0.9994 1 1 0.9994 0.9997 0.9985 1 hom 2975.60 98 1 203148633 . A G 2975.60 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4942;MQ=59.34;MQ0=0;QD=30.36;VQSLOD=8.4011;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3009,244,0 1 203152801 203152801 T C exonic CHI3L1 nonsynonymous SNV CHI3L1:NM_001276:exon5:c.A433G:p.R145G 0.37 0.17 0.33 0.38 0.54 0.48 0.4553 0.2141 0.2513 0.3700 0.5475 0.5274 0.5044 0.4635 0.41 0.22 0.51 0.35 0.48 rs880633 . . . . . . . . . . . . . 0.002 0.721 D 0.849 0.449 P 0.219 0.360 B 0.000 0.469 D 0.173 0.348 P 1.705 0.444 L 3.44 0.054 T -3.25 0.652 D 0.186 0.227 -0.958 0.396 T 0.000 0.000 T . . . 4.224 0.566 23.9 0.989 0.478 0.717 0.348 D c 0.176 0.166 1.000 0.747 0.554 0.246 0 5.69 0.883 2.100 0.412 1.061 0.807 0.980 0.350 0.672 0.303 13.900 0.631 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain . . 0.4514 0.2130 0.2611 0.4338 0.3749 0.5447 0.5317 0.4488 0.4674 0.4253 0.2174 0.3091 0.3808 0.3696 0.5433 0.5281 0.4928 het 1134.34 137 1 203152801 . T C 1134.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.050;DP=137;Dels=0.00;FS=2.385;HRun=2;HaplotypeScore=0.9159;MQ=58.75;MQ0=0;MQRankSum=0.161;QD=8.28;ReadPosRankSum=0.456;VQSLOD=6.0117;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,47:137:99:1164,0,2635 1 203194186 203194186 C T exonic CHIT1 nonsynonymous SNV CHIT1:NM_001270509:exon4:c.G304A:p.G102S,CHIT1:NM_003465:exon4:c.G304A:p.G102S 0.29 0.27 0.33 0.28 0.32 0.26 0.3023 0.2674 0.3741 0.2806 0.3187 0.3056 0.2753 0.2673 0.29 0.27 0.29 0.28 0.34 rs2297950 COSM146738 1(breast);1(stomach);1(pancreas);1(skin);3(prostate);1(large_intestine) other Chitotriosidase_deficiency RCV000010134.5 MedGen:OMIM C3279902:614122 . . . . . . 0.002 0.721 D 1.0 0.899 D 0.999 0.916 D 0.000 0.469 D 0.001 0.810 P 1.815 0.479 L 3.81 0.038 T -5.41 0.851 D 0.68 0.688 -0.942 0.423 T 0.000 0.000 T . . . 6.553 0.902 31 0.998 0.899 0.862 0.452 D c 0.326 0.208 1.000 0.747 0.487 0.133 0 2.59 0.300 6.673 0.741 0.855 0.374 1.000 0.715 0.981 0.494 7.755 0.279 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain . . 0.3053 0.2705 0.3651 0.3222 0.2739 0.3174 0.3037 0.3081 0.2663 0.3133 0.2774 0.3489 0.3046 0.2658 0.3306 0.3331 0.3170 hom 2066.04 66 1 203194186 . C T 2066.04 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=31.30;VQSLOD=9.0767;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2099,162,0 1 203317162 203317162 C T exonic FMOD synonymous SNV FMOD:NM_002023:exon2:c.G237A:p.E79E 0.62 0.27 0.79 0.65 0.86 0.68 0.7595 0.3333 0.7511 0.6391 0.8699 0.8380 0.7973 0.7315 0.67 0.34 0.84 0.59 0.73 rs7543148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7669 0.3197 0.7486 0.7894 0.6511 0.8758 0.8378 0.7961 0.7284 0.6923 0.3346 0.7458 0.7384 0.6444 0.8630 0.8534 0.8210 het 796.51 55 1 203317162 . C T 796.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.311;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6939;MQ=59.58;MQ0=0;MQRankSum=-0.412;QD=14.48;ReadPosRankSum=0.530;VQSLOD=6.4350;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,28:55:99:827,0,792 1 203455902 203455902 A C exonic PRELP nonsynonymous SNV PRELP:NM_002725:exon3:c.A1042C:p.N348H,PRELP:NM_201348:exon3:c.A1042C:p.N348H 0.0094 0.003 0.011 . 0.033 0.002 0.0200 0.0056 0.0104 0 0.0179 0.0310 0.0231 0.0026 0.022 0.0052 0.03 0.011 0.025 rs9439 . . . . . . . . . . . . . 0.385 0.110 T 0.001 0.067 B 0.003 0.080 B 0.516 0.118 N 0.994 0.236 N 0.49 0.133 N 3.54 0.048 T -0.9 0.242 N 0.029 0.010 -0.915 0.462 T 0.005 0.015 T . . . 1.313 0.222 12.34 0.969 0.312 0.391 0.259 N c -0.570 -0.429 1.000 0.500 0.581 0.330 0 4.13 0.475 1.829 0.385 1.088 0.866 0.366 0.257 0.989 0.536 6.812 0.228 Leucine-rich repeat domain\x2c L domain-like . . 0.0212 0.0048 0.0139 0.0256 0 0.02 0.0336 0.0259 0.0030 0.0194 0.0036 0.0119 0.0199 0 0.0198 0.0305 0.0265 het 1367.36 106 1 203455902 . A C 1367.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.649;DP=106;Dels=0.00;FS=1.649;HRun=0;HaplotypeScore=3.6917;MQ=59.37;MQ0=0;MQRankSum=-0.453;QD=12.90;ReadPosRankSum=0.174;VQSLOD=5.5039;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,56:106:99:1397,0,1375 1 203652444 203652444 A G exonic ATP2B4 synonymous SNV ATP2B4:NM_001001396:exon2:c.A111G:p.S37S,ATP2B4:NM_001684:exon2:c.A111G:p.S37S 0.85 0.64 0.94 1. 0.9 0.88 0.8756 0.6773 0.9451 0.9995 0.8281 0.8862 0.8744 0.8632 0.83 0.69 0.9 0.8 0.88 rs1419114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8824 0.6716 0.9449 0.9007 0.9994 0.8288 0.8887 0.8820 0.8636 0.8229 0.6827 0.9320 0.8940 1 0.8330 0.8734 0.8545 hom 7027.11 234 1 203652444 . A G 7027.11 Mask AC=2;AF=1.00;AN=2;DP=234;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4775;MQ=59.02;MQ0=0;QD=30.03;VQSLOD=6.8734;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,234:234:99:7026,578,0 1 203667409 203667409 T C exonic ATP2B4 synonymous SNV ATP2B4:NM_001001396:exon3:c.T318C:p.L106L,ATP2B4:NM_001684:exon3:c.T318C:p.L106L 0.86 0.67 0.94 1. 0.9 0.87 0.8801 0.7269 0.9471 0.9995 0.8281 0.8862 0.8786 0.8635 0.84 0.74 0.9 0.81 0.88 rs2228445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8859 0.7228 0.9471 0.9011 0.9994 0.8290 0.8887 0.8835 0.8636 0.8378 0.7336 0.9342 0.8940 1 0.8336 0.8739 0.8591 hom 3888.77 119 1 203667409 . T C 3888.77 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.82;MQ0=0;QD=32.68;VQSLOD=9.2713;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3888,301,0 1 203787700 203787700 T C exonic ZC3H11A synonymous SNV ZC3H11A:NM_001350264:exon4:c.T57C:p.G19G,ZC3H11A:NM_001350263:exon5:c.T57C:p.G19G,ZC3H11A:NM_001350265:exon5:c.T57C:p.G19G,ZC3H11A:NM_001319238:exon6:c.T57C:p.G19G,ZC3H11A:NM_001319239:exon6:c.T57C:p.G19G,ZC3H11A:NM_001350261:exon6:c.T57C:p.G19G,ZC3H11A:NM_001350262:exon6:c.T57C:p.G19G,ZC3H11A:NM_001350266:exon6:c.T57C:p.G19G,ZC3H11A:NM_014827:exon6:c.T57C:p.G19G 0.98 0.92 0.99 1. 1. 1. 0.9936 0.9307 0.9975 1 1 0.9997 0.9923 0.9997 0.98 0.93 1. 0.97 1. rs4951260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9950 0.9316 0.9965 1 1 0.9998 0.9997 0.9965 0.9997 0.9808 0.9332 0.9916 1 1 0.9997 0.9999 0.9969 hom 3433.84 114 1 203787700 . T C 3433.84 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.97;MQ0=0;QD=30.12;VQSLOD=8.8814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3433,268,0 1 204159612 204159612 T - exonic KISS1 stoploss KISS1:NM_002256:exon3:c.417delA:p.*139delinsWGAGAGQ* 0.22 0.081 0.25 0.41 0.22 0.2 0.2983 0.1439 0.3480 0.4710 0.3081 0.2902 0.2702 0.2473 0.17 0.085 0.2 0.011 0.049 rs71745629 COSM425060 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(endometrium) Benign not_specified RCV000454508.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2273 0.0859 0.2840 0.2151 0.4115 0.1936 0.2108 0.2233 0.2023 0.1877 0.0971 0.2218 0.2148 0.4191 0.1986 0.2080 0.2273 het 491.55 19 1 204159611 . CT C 491.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.194;DP=19;FS=0.000;HRun=1;HaplotypeScore=57.6798;MQ=60.00;MQ0=0;MQRankSum=-0.694;QD=25.87;ReadPosRankSum=-0.787;set=variant2 GT:AD:DP:GQ:PL 0/1:5,14:19:99:531,0,183 1 204237416 204237416 C T exonic PLEKHA6 nonsynonymous SNV PLEKHA6:NM_014935:exon4:c.G127A:p.V43I 0.63 0.47 0.76 0.8 0.66 0.55 0.6810 0.4996 0.8202 0.8165 0.7545 0.6828 0.6711 0.5901 0.62 0.5 0.67 0.6 0.63 rs10900571 COSM1179739 1(prostate) . . . . . . . . . . . 0.483 0.081 T 0.0 0.026 B 0.0 0.013 B 0.038 0.243 N 0.999 0.220 P -1.445 0.006 N 2.77 0.114 T 0.07 0.061 N 0.064 0.049 -1.071 0.091 T 0.000 0.000 T . . . 1.676 0.263 14.27 0.942 0.238 0.173 0.196 N c -0.948 -0.735 1.000 0.473 0.615 0.372 0 0.27 0.148 1.445 0.345 -0.720 0.036 1.000 0.715 0.825 0.345 10.037 0.411 PH domain-like . . 0.6902 0.4965 0.8063 0.7288 0.8174 0.7533 0.6743 0.6940 0.5895 0.6496 0.5020 0.7873 0.7119 0.8436 0.7477 0.6799 0.6903 het 499.63 58 1 204237416 . C T 499.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.871;DP=58;Dels=0.00;FS=6.277;HRun=0;HaplotypeScore=0.9993;MQ=59.36;MQ0=0;MQRankSum=-0.188;QD=8.61;ReadPosRankSum=0.597;VQSLOD=5.0574;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,20:58:99:530,0,898 1 204242838 204242838 A C exonic PLEKHA6 synonymous SNV PLEKHA6:NM_014935:exon3:c.T18G:p.G6G 0.2 0.13 0.24 0.29 0.18 0.2 0.1898 0.1433 0.2515 0.2752 0.2491 0.1702 0.2082 0.1863 0.16 0.15 0.17 0.22 0.11 rs33911350 COSM146743 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1931 0.1404 0.2438 0.1344 0.2742 0.2458 0.1709 0.1800 0.1820 0.1881 0.1380 0.2656 0.1567 0.2943 0.2377 0.1897 0.2020 het 966.37 60 1 204242838 . A C 966.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.855;DP=60;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9916;MQ=59.59;MQ0=0;MQRankSum=0.799;QD=16.11;ReadPosRankSum=0.784;VQSLOD=6.2280;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,39:60:99:996,0,489 1 204379452 204379452 T C exonic PPP1R15B nonsynonymous SNV PPP1R15B:NM_032833:exon1:c.A1088G:p.E363G 0.046 0.058 0.035 . 0.092 0.04 0.0626 0.0572 0.0214 0.0003 0.1260 0.0796 0.0618 0.0337 0.067 0.054 0.074 0.022 0.082 rs2089891 COSM3735950 1(skin) . . . . . . . . . . . 0.198 0.205 T 0.002 0.090 B 0.007 0.121 B 0.844 0.090 N 1 0.090 N 1.795 0.474 L 2.11 0.199 T -1.47 0.360 N 0.059 0.043 -1.003 0.290 T 0.003 0.008 T . . . 0.139 0.107 4.032 0.939 0.233 0.179 0.198 N c -1.070 -1.116 1.000 0.405 0.628 0.401 0 -0.117 0.128 0.522 0.225 0.153 0.239 0.003 0.159 0.004 0.083 4.053 0.092 Protein phosphatase 1\x2c regulatory subunit 15B\x2c N-terminal . . 0.0641 0.0588 0.0262 0.0615 0.0002 0.1311 0.0814 0.0673 0.0327 0.0860 0.0612 0.0310 0.0629 0 0.1273 0.1026 0.1020 het 1595.33 118 1 204379452 . T C 1595.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.303;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9918;MQ=58.93;MQ0=0;MQRankSum=0.127;QD=13.52;ReadPosRankSum=-0.011;VQSLOD=6.5008;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,57:118:99:1625,0,1629 1 204379617 204379617 T C exonic PPP1R15B nonsynonymous SNV PPP1R15B:NM_032833:exon1:c.A923G:p.N308S 0.97 0.89 0.99 1. 1. 1. 0.9914 0.9120 0.9956 1 0.9998 0.9990 0.9934 0.9999 0.97 0.91 1. 0.95 0.98 rs3014626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9930 0.9110 0.9936 0.9992 1 1 0.9991 0.9954 0.9998 0.9756 0.9167 0.9952 0.9967 1 1 0.9989 0.9929 hom 8408.27 248 1 204379617 . T C 8408.27 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.475;DP=248;DS;Dels=0.00;FS=4.081;HRun=0;HaplotypeScore=9.6072;MQ=59.76;MQ0=0;MQRankSum=1.243;QD=33.90;ReadPosRankSum=-0.056;VQSLOD=3.1040;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,247:248:99:8371,628,0 1 204396830 204396830 G A exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon32:c.C4533T:p.S1511S 0.14 0.28 0.1 0.077 0.11 0.061 0.1053 0.2612 0.1404 0.0790 0.1403 0.0887 0.1079 0.0491 0.14 0.26 0.086 0.22 0.066 rs17334387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1051 0.2670 0.1383 0.0858 0.0760 0.1425 0.0874 0.1055 0.0477 0.1535 0.2572 0.1360 0.0894 0.0868 0.1392 0.1068 0.1431 het 2951.60 222 1 204396830 . G A 2951.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.464;DP=222;Dels=0.00;FS=1.662;HRun=0;HaplotypeScore=6.3071;MQ=58.69;MQ0=0;MQRankSum=1.303;QD=13.30;ReadPosRankSum=0.589;VQSLOD=5.0456;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,122:222:99:2982,0,2343 1 204399061 204399061 A G exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon30:c.T4386C:p.P1462P 0.14 0.28 0.1 0.077 0.11 0.061 0.1054 0.2650 0.1394 0.0787 0.1397 0.0888 0.1067 0.0483 0.013 0.029 0.004 0.22 0.057 rs2271419 COSM3773464 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1044 0.2695 0.1376 0.0854 0.0758 0.1375 0.0873 0.1054 0.0471 0.1528 0.2556 0.1360 0.0894 0.0867 0.1400 0.1061 0.1436 het 1146.33 104 1 204399061 . A G 1146.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.458;DP=104;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=2.9607;MQ=59.01;MQ0=0;MQRankSum=-0.267;QD=11.02;ReadPosRankSum=2.142;VQSLOD=5.4002;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,49:104:99:1176,0,1561 1 204399064 204399064 G A exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon30:c.C4383T:p.P1461P 0.14 0.28 0.1 0.077 0.11 0.061 0.1055 0.2654 0.1398 0.0787 0.1397 0.0889 0.1067 0.0483 0.011 0.027 0.0038 0.22 0.057 rs2271420 COSM3750785 1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1044 0.2696 0.1376 0.0857 0.0757 0.1376 0.0873 0.1056 0.0471 0.1528 0.2556 0.1360 0.0894 0.0865 0.1400 0.1061 0.1436 het 1191.97 104 1 204399064 . G A 1191.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.702;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=59.01;MQ0=0;MQRankSum=-0.658;QD=11.46;ReadPosRankSum=1.888;VQSLOD=5.2155;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,49:104:99:1222,0,1541 1 204403659 204403659 A G exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon25:c.T3594C:p.N1198N 0.41 0.53 0.27 0.51 0.26 0.38 0.3009 0.4888 0.2829 0.5213 0.3296 0.2290 0.3341 0.3572 0.31 0.48 0.22 0.42 0.19 rs3747636 COSM3750786 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2956 0.4926 0.2785 0.2061 0.5265 0.3254 0.2254 0.2738 0.3528 0.3431 0.4997 0.2685 0.1854 0.5248 0.3210 0.2464 0.3208 het 1103.42 94 1 204403659 . A G 1103.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.358;DP=94;Dels=0.00;FS=1.741;HRun=0;HaplotypeScore=0.8321;MQ=59.09;MQ0=0;MQRankSum=-0.737;QD=11.74;ReadPosRankSum=-2.076;VQSLOD=5.7505;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,46:94:99:1133,0,1284 1 204423811 204423811 G A exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon13:c.C2052T:p.I684I 0.022 0.0015 0.02 . 0.035 0.061 0.0308 0.0050 0.0245 0.0003 0.0568 0.0328 0.0341 0.0486 0.025 0.0068 0.034 0.022 0.025 rs61762608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0317 0.0052 0.0251 0.0426 0.0005 0.0513 0.0330 0.0316 0.0474 0.0286 0.0063 0.0227 0.0232 0.0012 0.0545 0.0380 0.0428 het 2271.27 210 1 204423811 . G A 2271.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.543;DP=210;Dels=0.00;FS=1.077;HRun=1;HaplotypeScore=4.4717;MQ=59.01;MQ0=0;MQRankSum=-0.526;QD=10.82;ReadPosRankSum=1.095;VQSLOD=5.3054;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:121,89:210:99:2301,0,3021 1 204438334 204438334 C T exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon3:c.G597A:p.P199P 0.73 0.24 0.89 0.82 0.98 0.91 0.8916 0.3455 0.8556 0.7845 0.9645 0.9825 0.9224 0.9182 0.78 0.37 0.98 0.61 0.94 rs1124777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9001 0.3388 0.8589 0.9606 0.7844 0.9653 0.9843 0.9287 0.9153 0.7878 0.3585 0.8413 0.9636 0.7540 0.9648 0.9841 0.9265 hom 7535.68 220 1 204438334 . C T 7535.68 Mask AC=2;AF=1.00;AN=2;DP=220;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5686;MQ=59.37;MQ0=0;QD=34.25;VQSLOD=8.1284;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,219:220:99:7535,599,0 1 204438643 204438643 G T exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon3:c.C288A:p.L96L 0.73 0.24 0.9 0.82 0.98 0.91 0.8903 0.3432 0.8552 0.7835 0.9645 0.9825 0.9226 0.9148 0.78 0.37 0.98 0.61 0.97 rs1553921 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8984 0.3370 0.8581 0.9599 0.7843 0.9651 0.9838 0.9287 0.9139 0.7869 0.3551 0.8405 0.9636 0.7531 0.9645 0.9840 0.9264 hom 2278.92 71 1 204438643 . G T 2278.92 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6820;MQ=59.41;MQ0=0;QD=32.10;VQSLOD=9.4364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2312,196,0 1 204587240 204587240 G A exonic LRRN2 synonymous SNV LRRN2:NM_201630:exon2:c.C1881T:p.D627D,LRRN2:NM_006338:exon3:c.C1881T:p.D627D 0.29 0.032 0.5 0.34 0.43 0.32 0.4092 0.0886 0.5315 0.3044 0.5336 0.4585 0.4231 0.3329 0.33 0.096 0.45 0.22 0.3 rs3747632 COSM1748102 1(breast);2(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4194 0.0823 0.5184 0.4303 0.3037 0.5378 0.4547 0.4150 0.3292 0.3622 0.0913 0.4869 0.4172 0.3068 0.5384 0.4713 0.4489 het 574.15 41 1 204587240 . G A 574.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.195;DP=41;Dels=0.00;FS=1.243;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=1.056;QD=14.00;ReadPosRankSum=-1.448;VQSLOD=6.1023;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,21:41:99:604,0,594 1 204587918 204587918 C T exonic LRRN2 synonymous SNV LRRN2:NM_201630:exon2:c.G1203A:p.P401P,LRRN2:NM_006338:exon3:c.G1203A:p.P401P 0.0026 0.0008 0.0043 . 0.008 0.001 0.0068 0.0019 0.0021 0.0001 0.0117 0.0103 0.0045 0.0005 0.0093 0.0014 0.013 . . rs35322898 COSM5953252 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0066 0.0018 0.0021 0.0013 0.0002 0.0111 0.0109 0.0069 0.0005 0.0057 0.0015 0.0024 0 0 0.0097 0.0081 0.0051 het 1751.23 109 1 204587918 . C T 1751.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.396;DP=109;Dels=0.00;FS=1.683;HRun=0;HaplotypeScore=2.5787;MQ=59.27;MQ0=0;MQRankSum=-0.216;QD=16.07;ReadPosRankSum=0.015;VQSLOD=5.6806;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,59:109:99:1781,0,1336 1 204943947 204943947 C A exonic NFASC synonymous SNV NFASC:NM_001160331:exon12:c.C1587A:p.V529V,NFASC:NM_001160333:exon13:c.C1536A:p.V512V,NFASC:NM_001005388:exon14:c.C1554A:p.V518V,NFASC:NM_001005389:exon14:c.C1554A:p.V518V,NFASC:NM_001160332:exon14:c.C1587A:p.V529V,NFASC:NM_015090:exon14:c.C1587A:p.V529V 0.47 0.2 0.54 0.67 0.41 0.63 0.4538 0.2109 0.6170 0.6795 0.5089 0.3974 0.4868 0.5787 0.33 0.22 0.39 0.4 0.33 rs2246662 COSM3750792;COSM3750790;COSM3750794;COSM3750793;COSM3750791 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4651 0.2068 0.5992 0.4356 0.6757 0.5058 0.3923 0.4426 0.5772 0.3741 0.2092 0.5875 0.4305 0.6557 0.5057 0.3916 0.4366 het 2553.72 178 1 204943947 . C A 2553.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.027;DP=178;DS;Dels=0.00;FS=11.534;HRun=3;HaplotypeScore=8.9206;MQ=59.08;MQ0=0;MQRankSum=0.307;QD=14.35;ReadPosRankSum=0.459;VQSLOD=3.5598;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,91:178:99:2584,0,2228 1 204970302 204970302 T C exonic NFASC synonymous SNV NFASC:NM_001005388:exon26:c.T3024C:p.P1008P 0.23 0.16 0.18 0.24 0.26 0.33 0.3078 0.2297 0.2831 0.2989 0.3140 0.3115 0.2914 0.3490 0.23 0.18 0.25 0.18 . rs4951151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2410 0.1689 0.1960 0.2178 0.2228 0.2535 0.2498 0.2358 0.3035 0.2352 0.1841 0.1842 0.2252 0.2509 0.2520 0.2605 0.2643 het 560.99 51 1 204970302 . T C 560.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.029;DP=51;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.9983;MQ=59.27;MQ0=0;MQRankSum=2.199;QD=11.00;ReadPosRankSum=-1.425;VQSLOD=5.8151;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,24:51:99:591,0,781 1 205027737 205027737 G A exonic CNTN2 nonsynonymous SNV CNTN2:NM_001346083:exon5:c.G433A:p.A145T,CNTN2:NM_005076:exon5:c.G433A:p.A145T 0.29 0.14 0.28 0.48 0.15 0.47 0.2372 0.1447 0.3242 0.4774 0.2152 0.1627 0.2433 0.4178 0.15 0.15 0.16 0.23 0.09 rs2275697 COSM3746743 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.144 0.252 T 0.0 0.026 B 0.002 0.112 B 0.024 0.264 N 1 0.090 P 1.94 0.524 M -1.15 0.780 T -0.03 0.075 N 0.013 0.002 -1.002 0.293 T 0.000 0.000 T . . . 1.702 0.266 14.42 0.980 0.373 0.194 0.205 N c -0.543 -0.472 0.003 0.099 0.581 0.326 0 2.46 0.289 2.299 0.430 0.231 0.259 0.557 0.272 0.978 0.483 8.859 0.342 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.2395 0.1448 0.3139 0.1950 0.4738 0.2126 0.1572 0.2118 0.4114 0.1792 0.1360 0.2710 0.2053 0.4764 0.2062 0.1578 0.2162 het 783.78 67 1 205027737 . G A 783.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.959;DP=67;Dels=0.00;FS=3.399;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.623;QD=11.70;ReadPosRankSum=0.366;VQSLOD=5.7837;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,35:67:99:814,0,876 1 205031116 205031116 C T exonic CNTN2 nonsynonymous SNV CNTN2:NM_001346083:exon9:c.C1097T:p.P366L,CNTN2:NM_005076:exon9:c.C1097T:p.P366L 0.55 0.32 0.56 0.88 0.34 0.74 0.4754 0.3442 0.6292 0.8797 0.3891 0.3622 0.4527 0.6963 0.34 0.34 0.34 0.42 0.27 rs2229866 COSM3750795 1(breast);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.052 0.390 T 0.029 0.185 B 0.023 0.188 B 0.000 0.523 D 0.000 0.588 P 0.695 0.181 N -0.3 0.679 T -4.86 0.812 D 0.176 0.272 -0.957 0.397 T 0.000 0.000 T . . . 3.961 0.533 23.6 0.997 0.815 0.967 0.702 D c 0.101 0.238 1.000 0.747 0.495 0.175 0 4.94 0.645 4.731 0.615 0.935 0.490 1.000 0.715 1.000 0.888 17.744 0.883 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000133059.12|ENSG00000133059.12|ENSG00000184144.5 Artery_Tibial|Brain_Hippocampus|Skin_Not_Sun_Exposed_Suprapubic 0.4676 0.3307 0.6041 0.3965 0.8809 0.3804 0.3436 0.4155 0.6890 0.3733 0.3192 0.5680 0.3667 0.8766 0.3746 0.3369 0.4104 het 573.40 46 1 205031116 . C T 573.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.676;DP=46;Dels=0.00;FS=2.329;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.882;QD=12.47;ReadPosRankSum=0.309;VQSLOD=6.0888;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,21:46:99:603,0,803 1 205034348 205034348 C T exonic CNTN2 synonymous SNV CNTN2:NM_001346083:exon13:c.C1653T:p.I551I,CNTN2:NM_005076:exon13:c.C1653T:p.I551I . . . . . . 9.061e-05 0 0 0 0 0.0002 0 0 0.0001 . 0.0001 . . rs147493920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.934e-05 0 0 0 0 0 0.0002 0.0002 0 0.0001 0 0 0 0 0.0003 0.0002 0 het 2798.84 240 1 205034348 . C T 2798.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.286;DP=240;DS;Dels=0.00;FS=1.609;HRun=1;HaplotypeScore=5.2781;MQ=59.00;MQ0=0;MQRankSum=0.769;QD=11.66;ReadPosRankSum=1.290;VQSLOD=3.6482;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:131,109:240:99:2829,0,3326 1 205052939 205052939 G A exonic TMEM81 synonymous SNV TMEM81:NM_203376:exon1:c.C510T:p.L170L 0.8 0.5 0.87 0.98 0.84 0.92 0.8548 0.5549 0.9220 0.9711 0.8857 0.8593 0.8315 0.9062 0.76 0.56 0.86 0.65 0.84 rs4950979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8620 0.5477 0.9138 0.8462 0.9732 0.8841 0.8584 0.8529 0.9030 0.7801 0.5559 0.8624 0.8567 0.9685 0.8814 0.8558 0.8493 hom 3952.36 120 1 205052939 . G A 3952.36 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3990;MQ=59.65;MQ0=0;QD=32.94;VQSLOD=9.3432;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3952,313,0 1 205053219 205053219 C T exonic TMEM81 nonsynonymous SNV TMEM81:NM_203376:exon1:c.G230A:p.R77Q 0.82 0.55 0.89 0.98 0.85 0.93 0.8644 0.5934 0.9304 0.9711 0.8923 0.8674 0.8458 0.9104 0.78 0.6 0.86 0.69 0.85 rs4951168 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.343 N 1.000 0.186 P -1.87 0.003 N 1.45 0.325 T 0.31 0.040 N 0.032 0.015 -0.964 0.385 T 0.000 0.000 T . . . 2.606 0.374 20.2 0.753 0.107 0.063 0.122 N c -1.004 -0.753 0.366 0.198 0.706 0.609 0 5.5 0.813 0.254 0.179 0.154 0.240 0.094 0.225 0.972 0.466 6.989 0.238 . ENSG00000184144.5|ENSG00000174529.6|ENSG00000184144.5 Esophagus_Muscularis|Muscle_Skeletal|Thyroid 0.8714 0.5882 0.9236 0.8647 0.9732 0.8919 0.8654 0.8688 0.9082 0.7961 0.5946 0.8795 0.8709 0.9685 0.8898 0.8621 0.8605 hom 4896.04 141 1 205053219 . C T 4896.04 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8907;MQ=59.84;MQ0=0;QD=34.72;VQSLOD=8.8416;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4896,382,0 1 205130413 205130413 A G exonic DSTYK nonsynonymous SNV DSTYK:NM_015375:exon7:c.T1921C:p.C641R,DSTYK:NM_199462:exon7:c.T1921C:p.C641R 0.96 0.99 0.94 1. 0.89 0.96 0.9317 0.9850 0.9681 1 0.9253 0.9050 0.9042 0.9485 0.93 0.98 0.9 0.99 0.87 rs3851294 . . Benign not_specified RCV000244891.1 MedGen CN169374 . . . . . . 0.569 0.145 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.138 0.810 P -1.39 0.006 N -0.95 0.762 T 2.21 0.003 N 0.099 0.101 -0.948 0.414 T 0.000 0.000 T . . . 2.397 0.349 18.80 0.550 0.051 0.343 0.248 N c -0.616 -0.334 0.971 0.292 0.651 0.465 0 5.27 0.737 4.273 0.585 0.076 0.183 1.000 0.715 0.998 0.697 7.453 0.263 . ENSG00000184144.5|ENSG00000225063.1 Skin_Sun_Exposed_Lower_leg|Testis 0.9314 0.9859 0.9637 0.9082 0.9999 0.9241 0.9037 0.9222 0.9458 0.9334 0.9837 0.9388 0.8974 1 0.9224 0.9013 0.9110 hom 5782.96 188 1 205130413 . A G 5782.96 Mask AC=2;AF=1.00;AN=2;DP=188;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6882;MQ=59.27;MQ0=0;QD=30.76;VQSLOD=9.1394;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,188:188:99:5782,463,0 1 205238275 205238275 A G exonic TMCC2 synonymous SNV TMCC2:NM_001297611:exon2:c.A270G:p.A90A,TMCC2:NM_001297613:exon2:c.A225G:p.A75A,TMCC2:NM_001331034:exon2:c.A360G:p.A120A,TMCC2:NM_001242925:exon3:c.A711G:p.A237A,TMCC2:NM_014858:exon3:c.A945G:p.A315A 0.15 0.1 0.19 0.052 0.35 0.074 0.2718 0.1358 0.1737 0.0463 0.4137 0.3666 0.2629 0.1057 0.28 0.15 0.35 0.22 0.31 rs1768586 COSM3997172;COSM3997173;COSM3997171 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2716 0.1332 0.1835 0.3052 0.0464 0.4039 0.3665 0.3021 0.1070 0.2832 0.1380 0.1787 0.3278 0.0425 0.4018 0.3691 0.3149 hom 3825.92 123 1 205238275 . A G 3825.92 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.704;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4865;MQ=59.80;MQ0=0;MQRankSum=0.268;QD=31.11;ReadPosRankSum=-0.465;VQSLOD=7.4971;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,122:123:99:3825,316,0 1 205238530 205238530 C T exonic TMCC2 synonymous SNV TMCC2:NM_001297611:exon2:c.C525T:p.G175G,TMCC2:NM_001297613:exon2:c.C480T:p.G160G,TMCC2:NM_001331034:exon2:c.C615T:p.G205G,TMCC2:NM_001242925:exon3:c.C966T:p.G322G,TMCC2:NM_014858:exon3:c.C1200T:p.G400G 0.13 0.029 0.18 0.038 0.35 0.073 0.2671 0.0673 0.1717 0.0418 0.4151 0.3691 0.2744 0.1042 0.26 0.075 0.35 0.16 0.24 rs1779411 COSM3750801;COSM3750802;COSM3750800 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2654 0.0623 0.1798 0.3072 0.0406 0.4042 0.3671 0.3015 0.1042 0.2626 0.0662 0.1782 0.3278 0.0377 0.4016 0.3695 0.3105 hom 1886.90 63 1 205238530 . C T 1886.90 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.41;MQ0=0;QD=29.95;VQSLOD=8.6775;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:63:99:1920,168,0 1 205240251 205240251 C T exonic TMCC2 synonymous SNV TMCC2:NM_001297611:exon3:c.C1011T:p.Y337Y,TMCC2:NM_001297613:exon3:c.C966T:p.Y322Y,TMCC2:NM_001331034:exon3:c.C1101T:p.Y367Y,TMCC2:NM_001242925:exon4:c.C1452T:p.Y484Y,TMCC2:NM_014858:exon4:c.C1686T:p.Y562Y 0.16 0.15 0.19 0.052 0.35 0.074 0.2759 0.1770 0.1765 0.0463 0.4143 0.3669 0.2673 0.1060 0.3 0.19 0.36 0.23 0.3 rs1668867 COSM3750804;COSM3750803 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2746 0.1759 0.1861 0.3054 0.0464 0.4034 0.3667 0.3043 0.1072 0.2958 0.1811 0.1802 0.3278 0.0426 0.4018 0.3697 0.3163 hom 2044.47 63 1 205240251 . C T 2044.47 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7845;MQ=58.94;MQ0=0;QD=32.45;VQSLOD=9.6720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2077,172,0 1 205272926 205272926 C T exonic NUAK2 synonymous SNV NUAK2:NM_030952:exon7:c.G1671A:p.L557L 0.32 0.14 0.41 0.46 0.3 0.39 0.3383 0.1581 0.4631 0.4829 0.3328 0.3075 0.3293 0.4333 0.25 0.16 0.3 0.32 0.32 rs1106201 COSM3750806;COSM3750805 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3393 0.1503 0.4512 0.2639 0.4755 0.3349 0.3042 0.3101 0.3963 0.2745 0.1467 0.4222 0.2748 0.4529 0.3381 0.3045 0.3078 het 1239.66 85 1 205272926 . C T 1239.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.647;DP=85;Dels=0.00;FS=1.771;HRun=0;HaplotypeScore=2.9973;MQ=58.84;MQ0=0;MQRankSum=1.737;QD=14.58;ReadPosRankSum=0.544;VQSLOD=5.9935;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,47:85:99:1270,0,1137 1 205272983 205272983 C G exonic NUAK2 synonymous SNV NUAK2:NM_030952:exon7:c.G1614C:p.L538L 0.32 0.14 0.41 0.46 0.3 0.39 0.3353 0.1558 0.4617 0.4816 0.3336 0.3039 0.3164 0.4134 0.25 0.16 0.3 0.32 0.32 rs1106202 COSM1178401;COSM1178402 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3374 0.1504 0.4478 0.2609 0.4752 0.3355 0.3014 0.3109 0.3939 0.2731 0.1458 0.4222 0.2715 0.4535 0.3388 0.3021 0.3067 het 1160.14 88 1 205272983 . C G 1160.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.333;DP=88;Dels=0.00;FS=2.908;HRun=1;HaplotypeScore=4.7723;MQ=59.58;MQ0=0;MQRankSum=-0.298;QD=13.18;ReadPosRankSum=1.784;VQSLOD=4.6662;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,42:88:99:1190,0,1165 1 205275421 205275421 A G exonic NUAK2 synonymous SNV NUAK2:NM_030952:exon5:c.T717C:p.G239G 0.98 0.93 0.99 1. 1. 1. 0.9938 0.9410 0.9946 1 1 0.9991 0.9901 0.9998 0.98 0.94 1. 0.98 0.99 rs4951197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9949 0.9408 0.9943 0.9978 1 1 0.9990 0.9954 0.9998 0.9818 0.9383 0.9893 0.9967 1 1 0.9991 0.9969 hom 5282.03 177 1 205275421 . A G 5282.03 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3914;MQ=59.20;MQ0=0;QD=29.84;VQSLOD=7.5756;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5281,397,0 1 205306590 205306590 G A exonic KLHDC8A synonymous SNV KLHDC8A:NM_018203:exon6:c.C990T:p.A330A,KLHDC8A:NM_001271864:exon7:c.C990T:p.A330A,KLHDC8A:NM_001271865:exon8:c.C990T:p.A330A,KLHDC8A:NM_001271863:exon9:c.C990T:p.A330A 0.18 0.022 0.17 0.34 0.21 0.2 0.1845 0.0445 0.1774 0.3330 0.1929 0.1862 0.1927 0.1897 0.14 0.046 0.19 0.14 0.16 rs3210952 COSM3750807 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1872 0.0415 0.1675 0.1659 0.3275 0.1954 0.1906 0.1921 0.1905 0.1559 0.0443 0.1492 0.1623 0.3298 0.1959 0.1920 0.1721 het 2306.93 197 1 205306590 . G A 2306.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.218;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6653;MQ=59.16;MQ0=0;MQRankSum=0.106;QD=11.71;ReadPosRankSum=-0.708;VQSLOD=6.0062;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:108,89:197:99:2337,0,2852 1 205308335 205308335 G A exonic KLHDC8A synonymous SNV KLHDC8A:NM_018203:exon4:c.C744T:p.F248F,KLHDC8A:NM_001271864:exon5:c.C744T:p.F248F,KLHDC8A:NM_001271865:exon6:c.C744T:p.F248F,KLHDC8A:NM_001271863:exon7:c.C744T:p.F248F 0.18 0.22 0.14 0.032 0.29 0.2 0.2516 0.2236 0.1136 0.0302 0.3056 0.3070 0.2376 0.2373 0.28 0.22 0.3 0.21 0.21 rs1105385 COSM3750808 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2460 0.2211 0.1310 0.2777 0.0337 0.3025 0.3062 0.2620 0.2318 0.2561 0.2156 0.1495 0.2833 0.0390 0.3022 0.2965 0.2765 het 1535.98 91 1 205308335 . G A 1535.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.436;DP=91;Dels=0.00;FS=0.882;HRun=2;HaplotypeScore=1.7172;MQ=59.49;MQ0=0;MQRankSum=-0.653;QD=16.88;ReadPosRankSum=-0.264;VQSLOD=6.2809;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,55:91:99:1566,0,907 1 205308368 205308368 C T exonic KLHDC8A synonymous SNV KLHDC8A:NM_018203:exon4:c.G711A:p.R237R,KLHDC8A:NM_001271864:exon5:c.G711A:p.R237R,KLHDC8A:NM_001271865:exon6:c.G711A:p.R237R,KLHDC8A:NM_001271863:exon7:c.G711A:p.R237R 0.18 0.22 0.13 0.031 0.28 0.2 0.2448 0.2197 0.1107 0.0297 0.2866 0.2985 0.2305 0.2340 0.27 0.22 0.3 0.21 0.21 rs1105387 COSM3750809 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2406 0.2206 0.1282 0.2757 0.0336 0.2871 0.2992 0.2568 0.2295 0.2512 0.2147 0.1459 0.2881 0.0388 0.2903 0.2904 0.2673 het 1650.58 105 1 205308368 . C T 1650.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.988;DP=105;Dels=0.00;FS=5.027;HRun=0;HaplotypeScore=0.8667;MQ=59.78;MQ0=0;MQRankSum=-0.801;QD=15.72;ReadPosRankSum=1.122;VQSLOD=4.9436;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,63:105:99:1681,0,1191 1 205554095 205554095 A C exonic MFSD4A synonymous SNV MFSD4A:NM_181644:exon5:c.A951C:p.V317V 0.36 0.55 0.4 0.062 0.45 0.29 0.4204 0.5235 0.4009 0.0344 0.5210 0.4702 0.4305 0.3291 0.49 0.52 0.48 0.46 0.41 rs7515820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4191 0.5224 0.4034 0.4058 0.0359 0.5201 0.4722 0.4482 0.3330 0.4727 0.5187 0.4269 0.4238 0.0451 0.5279 0.4838 0.4620 het 1478.56 147 1 205554095 . A C 1478.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.116;DP=147;DS;Dels=0.00;FS=1.738;HRun=1;HaplotypeScore=2.3883;MQ=59.59;MQ0=0;MQRankSum=-1.403;QD=10.06;ReadPosRankSum=-1.191;VQSLOD=5.6739;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,59:147:99:1509,0,2249 1 205589574 205589574 C T exonic ELK4 synonymous SNV ELK4:NM_001973:exon3:c.G600A:p.P200P,ELK4:NM_021795:exon3:c.G600A:p.P200P 0.2 0.15 0.12 0.37 0.071 0.27 0.1306 0.1286 0.1524 0.3451 0.1142 0.0828 0.1222 0.2047 0.1 0.13 0.091 0.12 0.14 rs1064406 COSM3997176;COSM3997177 1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1318 0.1346 0.1461 0.1029 0.3462 0.1080 0.0826 0.1233 0.2012 0.1183 0.1344 0.1599 0.1026 0.3228 0.1097 0.0872 0.1143 het 440.84 71 1 205589574 . C T 440.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.154;DP=71;Dels=0.00;FS=2.343;HRun=0;HaplotypeScore=0.7887;MQ=59.08;MQ0=0;MQRankSum=0.530;QD=6.21;ReadPosRankSum=-0.761;VQSLOD=5.0991;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,20:71:99:471,0,1355 1 205767885 205767885 G A exonic SLC41A1 synonymous SNV SLC41A1:NM_173854:exon6:c.C756T:p.N252N 0.14 0.023 0.23 0.003 0.4 0.12 0.2953 0.0700 0.1666 0.0006 0.4399 0.4122 0.3396 0.1494 0.3 0.084 0.41 0.16 0.39 rs708727 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2982 0.0638 0.1805 0.3717 0.0008 0.4431 0.4140 0.3321 0.1546 0.2917 0.0757 0.2136 0.3543 0.0031 0.4374 0.4129 0.3704 het 1830.42 136 1 205767885 . G A 1830.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.752;DP=136;Dels=0.00;FS=1.410;HRun=0;HaplotypeScore=1.9053;MQ=59.66;MQ0=0;MQRankSum=2.126;QD=13.46;ReadPosRankSum=1.652;VQSLOD=5.6527;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,68:136:99:1860,0,1741 1 205779231 205779231 G A exonic SLC41A1 synonymous SNV SLC41A1:NM_173854:exon2:c.C339T:p.T113T 0.28 0.017 0.19 0.52 0.29 0.43 0.2949 0.0535 0.1891 0.5700 0.2945 0.2945 0.3060 0.3779 0.21 0.064 0.29 0.17 0.25 rs11240569 COSM146744 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2926 0.0506 0.1939 0.3005 0.5774 0.2828 0.2912 0.2876 0.3715 0.2403 0.0565 0.2261 0.2517 0.5613 0.2868 0.2994 0.2892 het 1879.05 121 1 205779231 . G A 1879.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.463;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5226;MQ=59.81;MQ0=0;MQRankSum=-0.238;QD=15.53;ReadPosRankSum=-0.165;VQSLOD=6.4087;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,69:121:99:1909,0,1350 1 205801872 205801872 A G exonic PM20D1 nonsynonymous SNV PM20D1:NM_152491:exon11:c.T1139C:p.I380T 0.28 0.35 0.31 0.013 0.52 0.2 0.4147 0.3998 0.2269 0.0023 0.5502 0.5257 0.4473 0.2491 0.48 0.4 0.52 0.33 0.54 rs1361754 COSM3746746 1(breast);1(liver) . . . . . . . . . . . 0.596 0.057 T 0.016 0.161 B 0.015 0.162 B 0.001 0.408 N 1.000 0.090 P 0.93 0.236 L 0.27 0.592 T -0.3 0.119 N 0.118 0.130 -0.908 0.471 T 0.000 0.000 T . . . -1.075 0.029 0.011 0.497 0.042 0.191 0.203 N c -1.055 -0.990 0.937 0.272 0.598 0.340 0 -0.108 0.129 0.693 0.250 -0.203 0.101 0.359 0.256 0.303 0.238 7.487 0.264 Peptidase M20\x2c dimerisation domain ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000117280.8|ENSG00000133065.6|ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000069275.12|ENSG00000117280.8|ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000069275.12|ENSG00000133065.6|ENSG00000162877.8|ENSG00000162877.8|ENSG00000133065.6|ENSG00000162877.8|ENSG00000069275.12|ENSG00000162877.8|ENSG00000069275.12|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000069275.12|ENSG00000162877.8|ENSG00000069275.12|ENSG00000117280.8|ENSG00000133065.6|ENSG00000162877.8|ENSG00000117280.8|ENSG00000133065.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Hippocampus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4084 0.3995 0.2484 0.4733 0.0025 0.5608 0.5291 0.4396 0.2350 0.4581 0.3982 0.2947 0.4636 0.0037 0.5555 0.5272 0.4774 het 1730.55 125 1 205801872 . A G 1730.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.169;DP=125;Dels=0.00;FS=3.436;HRun=0;HaplotypeScore=1.8656;MQ=59.70;MQ0=0;MQRankSum=0.625;QD=13.84;ReadPosRankSum=1.316;VQSLOD=6.0145;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,64:125:99:1761,0,1543 1 205814485 205814485 G A exonic PM20D1 nonsynonymous SNV PM20D1:NM_152491:exon3:c.C457T:p.R153W 0.25 0.19 0.25 0.26 0.25 0.33 0.2634 0.1933 0.2774 0.2591 0.2508 0.2570 0.2676 0.3303 0.23 0.2 0.25 0.22 0.2 rs1104899 COSM3997178 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.007 0.599 D 0.996 0.670 D 0.962 0.690 D 0.000 0.843 D 0.000 0.537 P 3.47 0.926 M 0.06 0.618 T -6.88 0.932 D 0.367 0.428 -1.022 0.231 T 0.000 0.000 T . . . 5.046 0.679 25.2 0.997 0.836 0.872 0.464 D c 0.328 0.195 0.497 0.209 0.497 0.185 0 3.96 0.449 2.719 0.467 -0.345 0.071 0.999 0.424 0.001 0.043 5.217 0.146 . ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Thyroid 0.2643 0.1915 0.2837 0.2529 0.2526 0.2387 0.2602 0.2686 0.3227 0.2394 0.1917 0.2697 0.2318 0.2410 0.2424 0.2642 0.2490 hom 6161.61 195 1 205814485 . G A 6161.61 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=58.56;MQ0=0;QD=31.60;VQSLOD=9.6553;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:195:99:6161,481,0 1 205814497 205814497 T C exonic PM20D1 nonsynonymous SNV PM20D1:NM_152491:exon3:c.A445G:p.I149V 0.84 0.87 0.84 0.74 0.93 0.79 0.8833 0.8812 0.7191 0.7406 0.9181 0.9446 0.9020 0.8114 0.93 0.88 0.95 0.87 0.95 rs1891460 . . . . . . . . . . . . . 0.244 0.174 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -0.77 0.017 N 3.21 0.071 T -0.32 0.123 N 0.037 0.017 -1.026 0.219 T 0.000 0.000 T . . . -0.217 0.075 1.013 0.853 0.153 0.843 0.431 D c -1.014 -0.782 0.770 0.236 0.497 0.185 0 3.65 0.408 4.724 0.614 -0.148 0.109 1.000 0.715 0.001 0.043 9.016 0.351 . . . 0.8794 0.8818 0.7464 0.9512 0.7419 0.9125 0.9452 0.8930 0.8120 0.9053 0.8864 0.7780 0.9470 0.7435 0.9096 0.9390 0.9063 hom 5707.44 197 1 205814497 . T C 5707.44 Mask AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6281;MQ=58.38;MQ0=0;QD=28.97;VQSLOD=8.5145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:5706,469,0 1 206327510 206327510 T C exonic CTSE synonymous SNV CTSE:NM_001317331:exon5:c.T474C:p.F158F,CTSE:NM_001910:exon6:c.T699C:p.F233F,CTSE:NM_148964:exon6:c.T699C:p.F233F . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 0.167 -0.147 0.433 0.204 0.578 0.323 0 -6.62 0.016 -1.662 0.021 -1.487 0.010 0.000 0.063 0.967 0.454 14.689 0.685 Aspartic peptidase domain|Peptidase family A1 domain . . . . . . . . . . . . . . . . . . . het 2940.05 249 1 206327510 . T C 2940.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.864;DP=249;DS;Dels=0.00;FS=3.538;HRun=0;HaplotypeScore=2.8393;MQ=59.37;MQ0=0;MQRankSum=0.747;QD=11.81;ReadPosRankSum=-1.349;VQSLOD=5.7043;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:134,115:249:99:2970,0,3681 1 206328803 206328803 T C exonic CTSE synonymous SNV CTSE:NM_001910:exon7:c.T870C:p.P290P 0.18 0.39 0.17 0.017 0.21 0.063 0.1743 0.3870 0.1154 0.0075 0.2126 0.1908 0.1711 0.0868 0.25 0.39 0.19 0.24 0.16 rs41302235 COSM3750824 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1710 0.3901 0.1241 0.2349 0.0074 0.2131 0.1886 0.2006 0.0848 0.2333 0.3755 0.1527 0.2318 0.0031 0.2271 0.1846 0.1871 het 1156.38 83 1 206328803 . T C 1156.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.077;DP=83;Dels=0.00;FS=1.893;HRun=3;HaplotypeScore=0.8941;MQ=59.16;MQ0=0;MQRankSum=1.061;QD=13.93;ReadPosRankSum=-1.079;VQSLOD=6.1730;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,41:83:99:1186,0,1283 1 206603535 206603535 G A exonic SRGAP2 unknown UNKNOWN 0.53 0.42 0.56 0.7 0.43 0.55 0.4929 0.4179 0.5226 0.7109 0.5219 0.4618 0.4432 0.5199 0.44 0.4 0.45 0.35 . rs2297539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4943 0.4172 0.5169 0.4478 0.7175 0.5192 0.4575 0.4741 0.5164 0.4632 0.4151 0.4880 0.4073 0.7033 0.5269 0.4489 0.4826 het 2583.79 250 1 206603535 . G A 2583.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.670;DP=250;DS;Dels=0.00;FS=1.550;HRun=0;HaplotypeScore=5.6061;MQ=58.81;MQ0=0;MQRankSum=1.214;QD=10.34;ReadPosRankSum=-0.661;VQSLOD=5.1585;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:144,106:250:99:2614,0,3900 1 206626607 206626607 G A exonic SRGAP2 unknown UNKNOWN 0.35 0.2 0.39 0.27 0.53 0.39 0.5230 0.3078 0.5389 0.3447 0.5 0.5731 0.5483 0.5056 0.43 0.25 0.51 0.38 . rs11120575 COSM4143276 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4560 0.2359 0.4498 0.4914 0.2433 0.4387 0.5203 0.4824 0.4317 0.4180 0.2429 0.4593 0.5331 0.2612 0.4376 0.5243 0.4684 het 224.43 26 1 206626607 . G A 224.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.028;DP=26;Dels=0.00;FS=1.760;HRun=0;HaplotypeScore=0.8667;MQ=59.11;MQ0=0;MQRankSum=1.080;QD=8.63;ReadPosRankSum=-0.237;VQSLOD=6.4254;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,10:26:99:254,0,466 1 206634429 206634429 A G exonic SRGAP2 unknown UNKNOWN 0.21 0.25 0.17 0.068 0.24 0.3 0.2363 0.2425 0.1615 0.0739 0.2816 0.2448 0.2446 0.3322 0.25 0.22 0.26 0.12 . rs17018890 COSM3997180 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2266 0.2380 0.1619 0.1356 0.0713 0.2812 0.2494 0.2097 0.2847 0.2419 0.2355 0.1758 0.12 0.0617 0.2919 0.2587 0.2566 het 818.41 100 1 206634429 . A G 818.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.122;DP=100;Dels=0.00;FS=2.829;HRun=1;HaplotypeScore=0.9469;MQ=58.96;MQ0=0;MQRankSum=0.376;QD=8.18;ReadPosRankSum=1.460;VQSLOD=5.5115;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,35:100:99:848,0,1697 1 206647742 206647742 A G exonic IKBKE synonymous SNV IKBKE:NM_001193322:exon4:c.A156G:p.Q52Q,IKBKE:NM_014002:exon4:c.A156G:p.Q52Q 1. 1. 1. 1. 1. 1. 0.9986 0.9995 0.9991 1 0.9992 0.9980 1 0.9992 1. 1. 1. 1. 0.95 rs1539242 COSM4143277 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9986 0.9997 0.9989 0.9998 1 0.9995 0.9976 0.9985 0.9993 0.9985 0.9998 0.9988 1 1 0.9991 0.9974 0.9980 hom 3461.02 102 1 206647742 . A G 3461.02 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8311;MQ=59.73;MQ0=0;QD=33.93;VQSLOD=8.4838;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3461,268,0 1 206647787 206647787 T C exonic IKBKE synonymous SNV IKBKE:NM_001193322:exon4:c.T201C:p.I67I,IKBKE:NM_014002:exon4:c.T201C:p.I67I 0.9 0.88 0.92 0.97 0.83 0.9 0.8591 0.8753 0.9334 0.9764 0.8358 0.8275 0.8673 0.8714 0.85 0.87 0.83 0.94 0.75 rs1539243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8610 0.8719 0.9297 0.7766 0.9768 0.8298 0.8328 0.8468 0.8701 0.8525 0.8711 0.9129 0.7947 0.9846 0.8333 0.8311 0.8299 het 1051.79 64 1 206647787 . T C 1051.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.058;DP=64;Dels=0.00;FS=2.473;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=-0.140;QD=16.43;ReadPosRankSum=-1.385;VQSLOD=5.9517;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,41:64:99:1082,0,612 1 206773659 206773659 A G exonic EIF2D synonymous SNV EIF2D:NM_001201478:exon6:c.T534C:p.P178P,EIF2D:NM_006893:exon8:c.T906C:p.P302P 1. 1. 1. 1. 1. 1. 1.0000 0.9997 1 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs6662929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9994 1.0000 1 1 1 1.0000 0.9996 1 0.9998 0.9992 1 1 1 1 1 1 hom 4159.40 140 1 206773659 . A G 4159.40 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7470;MQ=58.70;MQ0=0;QD=29.71;VQSLOD=8.2729;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4158,334,0 1 206905040 206905040 C T exonic MAPKAPK2 synonymous SNV MAPKAPK2:NM_004759:exon8:c.C948T:p.I316I,MAPKAPK2:NM_032960:exon8:c.C948T:p.I316I 0.041 0.12 0.029 . 0.015 0.0041 0.0206 0.1223 0.0171 0.0001 0.0056 0.0133 0.0242 0.0054 0.048 0.12 0.013 0.033 0.016 rs34526867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0194 0.1233 0.0177 0.0572 0 0.0062 0.0117 0.0221 0.0051 0.0414 0.1217 0.0155 0.0629 0 0.0049 0.0103 0.0183 het 2657.90 238 1 206905040 . C T 2657.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.094;DP=238;DS;Dels=0.00;FS=5.365;HRun=1;HaplotypeScore=7.3512;MQ=58.71;MQ0=0;MQRankSum=-1.323;QD=11.17;ReadPosRankSum=-1.311;VQSLOD=2.9537;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,113:238:99:2688,0,3189 1 207074905 207074905 T C exonic IL24 nonsynonymous SNV IL24:NM_001185156:exon5:c.T373C:p.Y125H,IL24:NM_006850:exon5:c.T370C:p.Y124H 0.32 0.29 0.44 0.21 0.45 0.23 0.3976 0.2920 0.4600 0.2157 0.3781 0.4650 0.4249 0.2498 0.41 0.3 0.47 0.37 0.42 rs1150258 . . . . . . . . . . . . . 0.098 0.912 T 1.0 0.899 D 0.999 0.916 D 0.000 0.477 D 0.726 0.588 P 2.19 0.618 M 2.25 0.178 T -2.54 0.550 D 0.211 0.276 -0.915 0.463 T 0.000 0.000 T . . . 4.227 0.566 23.9 0.998 0.864 0.331 0.245 N c 0.148 0.010 1.000 0.747 0.497 0.185 0 2.38 0.283 1.074 0.301 1.061 0.807 0.640 0.278 0.895 0.377 3.697 0.078 Four-helical cytokine\x2c core|Four-helical cytokine-like\x2c core ENSG00000271680.1 Cells_EBV-transformed_lymphocytes 0.4022 0.2842 0.4623 0.4838 0.2122 0.3806 0.4673 0.4302 0.2501 0.3943 0.2887 0.4378 0.4868 0.2333 0.4012 0.4654 0.4242 het 1169.37 111 1 207074905 . T C 1169.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.445;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9905;MQ=59.46;MQ0=0;MQRankSum=-0.218;QD=10.53;ReadPosRankSum=0.398;VQSLOD=6.0865;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,46:111:99:1199,0,1741 1 207087435 207087435 C T exonic FCMR synonymous SNV FCMR:NM_001193338:exon2:c.G42A:p.S14S,FCMR:NM_005449:exon2:c.G42A:p.S14S 0.24 0.17 0.31 0.13 0.45 0.2 0.3624 0.1967 0.2820 0.1456 0.3813 0.4608 0.4053 0.2276 0.38 0.2 0.47 0.27 0.39 rs167082 COSM5425720;COSM5425719 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3623 0.1882 0.2911 0.4703 0.1420 0.3839 0.4633 0.3955 0.2283 0.3586 0.1953 0.3181 0.4669 0.1623 0.4036 0.4609 0.4110 het 1369.38 100 1 207087435 . C T 1369.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.247;DP=100;Dels=0.00;FS=2.415;HRun=0;HaplotypeScore=0.6651;MQ=59.31;MQ0=0;MQRankSum=0.407;QD=13.69;ReadPosRankSum=1.041;VQSLOD=6.3553;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,49:100:99:1399,0,1315 1 207109116 207109116 C T exonic PIGR nonsynonymous SNV PIGR:NM_002644:exon5:c.G1093A:p.G365S 0.3 0.19 0.33 0.33 0.46 0.21 0.3833 0.2253 0.2946 0.3190 0.4060 0.4590 0.4268 0.2547 0.38 0.22 0.46 0.35 0.38 rs2275531 COSM425158 1(thyroid) . . . . . . . . . . . 0.12 0.279 T 1.0 0.899 D 1.0 0.971 D 0.001 0.420 N 0.357 0.329 P 1.725 0.447 L 3.66 0.043 T -3.38 0.667 D 0.07 0.058 -0.911 0.467 T 0.000 0.000 T . . . 4.002 0.538 23.6 0.997 0.804 0.464 0.275 N c 0.213 0.127 1.000 0.747 0.422 0.057 0 4.64 0.572 0.462 0.215 0.065 0.171 0.674 0.281 0.677 0.304 8.687 0.332 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000271680.1 Cells_EBV-transformed_lymphocytes 0.3813 0.2087 0.3041 0.4716 0.3299 0.4080 0.4589 0.4141 0.2510 0.3767 0.2181 0.3230 0.4470 0.3643 0.4210 0.4586 0.4243 het 540.04 52 1 207109116 . C T 540.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.194;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9992;MQ=59.28;MQ0=0;MQRankSum=0.046;QD=10.39;ReadPosRankSum=-0.491;VQSLOD=6.5141;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:570,0,779 1 207110936 207110936 T C exonic PIGR synonymous SNV PIGR:NM_002644:exon4:c.A549G:p.V183V 0.55 0.93 0.51 0.45 0.47 0.26 0.4770 0.8625 0.5099 0.4369 0.3878 0.4712 0.4710 0.2895 0.6 0.85 0.47 0.67 0.43 rs291096 COSM5505118 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4705 0.8688 0.5134 0.5614 0.4375 0.3904 0.4657 0.4810 0.2885 0.5699 0.8568 0.4964 0.51 0.4710 0.4050 0.4637 0.4714 het 952.50 65 1 207110936 . T C 952.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.125;DP=65;Dels=0.00;FS=2.287;HRun=0;HaplotypeScore=1.8401;MQ=60.00;MQ0=0;MQRankSum=-0.599;QD=14.65;ReadPosRankSum=-0.717;VQSLOD=6.0126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,35:65:99:982,0,867 1 207140440 207140440 C T exonic FCAMR synonymous SNV FCAMR:NM_001170631:exon3:c.G126A:p.A42A,FCAMR:NM_032029:exon3:c.G126A:p.A42A,FCAMR:NM_001122979:exon4:c.G126A:p.A42A 0.24 0.38 0.17 0.32 0.17 0.081 0.1990 0.3396 0.1692 0.3176 0.2025 0.1874 0.1927 0.1195 0.23 0.33 0.19 0.35 0.2 rs11119933 COSM146750 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1941 0.3314 0.1681 0.1544 0.3266 0.2041 0.1863 0.1858 0.1160 0.2454 0.3367 0.1647 0.1159 0.3614 0.2162 0.1968 0.2023 het 141.23 34 1 207140440 . C T 141.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.576;DP=34;Dels=0.00;FS=4.152;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-0.511;QD=4.15;ReadPosRankSum=-0.639;VQSLOD=2.7624;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,7:34:99:171,0,716 1 207195779 207195779 A G exonic C1orf116 nonsynonymous SNV C1orf116:NM_001083924:exon3:c.T592C:p.S198P,C1orf116:NM_023938:exon4:c.T1330C:p.S444P 1. 1. 0.99 1. 0.99 0.99 0.9883 0.9979 0.9942 1 0.9680 0.9847 0.9813 0.9947 0.99 1. 0.98 0.99 0.96 rs2842726 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.066 0.219 N 1 0.090 P -1.28 0.007 N 3.33 0.062 T 3.04 0.001 N 0.012 0.001 -1.016 0.249 T 0.000 0.000 T . . . -1.843 0.010 0.002 0.669 0.079 0.003 0.016 N c -1.770 -1.650 1.000 0.517 0.615 0.372 0 -0.771 0.104 -0.083 0.112 -0.232 0.094 0.017 0.192 0.066 0.174 1.457 0.022 . . . 0.9885 0.9978 0.9943 0.9981 1 0.9691 0.9850 0.9898 0.9949 0.9882 0.9983 0.9940 0.9967 1 0.9780 0.9832 0.9857 hom 2549.69 76 1 207195779 . A G 2549.69 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.20;MQ0=0;QD=33.55;VQSLOD=10.0174;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2583,202,0 1 207200875 207200875 - T exonic C1orf116 frameshift insertion C1orf116:NM_023938:exon2:c.68dupA:p.D23Efs*13 0.0032 . 0.0086 . 0.0099 . 0.0054 0.0012 0.0016 0 0.0073 0.0083 0.0044 0.0012 0.0062 0.0023 0.0082 . . rs201900436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0053 0.0012 0.0015 0.0012 0 0.0077 0.0089 0.0051 0.0013 0.0054 0.0016 0.0048 0.0033 0 0.0072 0.0077 0.0071 het 2597.13 129 1 207200875 . G GT 2597.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.612;DP=129;FS=0.667;HRun=1;HaplotypeScore=302.8926;MQ=58.24;MQ0=0;MQRankSum=-0.250;QD=20.13;ReadPosRankSum=-1.004;set=variant2 GT:AD:DP:GQ:PL 0/1:62,67:129:99:2636,0,1845 1 207297680 207297680 T C exonic C4BPA synonymous SNV C4BPA:NM_000715:exon6:c.T675C:p.G225G 0.86 0.92 0.86 0.76 0.83 0.9 0.8545 0.9090 0.9076 0.8103 0.8800 0.8344 0.8425 0.8777 0.86 0.91 0.83 0.83 0.83 rs1126618 . . Benign not_specified RCV000455756.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8556 0.9099 0.906 0.7695 0.8142 0.8815 0.8367 0.8409 0.8760 0.8638 0.9047 0.8842 0.7914 0.8205 0.8866 0.8419 0.8310 hom 3313.69 116 1 207297680 . T C 3313.69 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4725;MQ=59.28;MQ0=0;QD=28.57;VQSLOD=8.3227;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3313,271,0 1 207304900 207304900 T C exonic C4BPA nonsynonymous SNV C4BPA:NM_000715:exon8:c.T899C:p.I300T 0.49 0.84 0.46 0.27 0.38 0.38 0.4014 0.7658 0.4312 0.3002 0.4686 0.3546 0.4096 0.3613 0.48 0.75 0.35 0.56 0.3 rs4844573 COSM3997187 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454800.1 MedGen CN169374 . . . . . . 0.924 0.023 T 0.0 0.026 B 0.002 0.063 B 0.104 0.026 N 1 0.090 P -0.735 0.018 N 0.02 0.623 T 0.62 0.024 N 0.03 0.011 -0.960 0.392 T 0.000 0.000 T . . . -1.957 0.009 0.001 0.319 0.018 0.002 0.013 N c -1.889 -1.928 1.000 0.747 0.487 0.133 0 -8.9 0.007 -2.575 0.010 -0.318 0.077 0.000 0.063 0.046 0.161 16.213 0.819 Sushi/SCR/CCP domain . . 0.3925 0.7719 0.4289 0.3057 0.2929 0.4662 0.3501 0.3841 0.3475 0.4808 0.7635 0.4342 0.3079 0.2655 0.4545 0.3567 0.4037 hom 2074.87 63 1 207304900 . T C 2074.87 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.27;MQ0=0;QD=32.93;VQSLOD=10.0376;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2108,168,0 1 207646322 207646322 G A exonic CR2 synonymous SNV CR2:NM_001006658:exon10:c.G1776A:p.L592L,CR2:NM_001877:exon10:c.G1776A:p.L592L 0.4 0.76 0.27 0.2 0.35 0.27 0.3505 0.6981 0.2233 0.2167 0.3060 0.3561 0.3717 0.2836 0.47 0.69 0.36 0.47 0.31 rs1048971 COSM3746749 1(liver);1(thyroid);1(large_intestine);1(central_nervous_system) Benign not_specified RCV000454637.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3362 0.7057 0.2282 0.3000 0.2107 0.3110 0.3591 0.3353 0.2874 0.4253 0.6919 0.2344 0.31 0.1950 0.3041 0.3445 0.3014 hom 3172.52 104 1 207646322 . G A 3172.52 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=30.50;VQSLOD=8.9819;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3206,259,0 1 207646462 207646462 G A exonic CR2 nonsynonymous SNV CR2:NM_001006658:exon10:c.G1916A:p.S639N,CR2:NM_001877:exon10:c.G1916A:p.S639N 0.26 0.43 0.2 0.11 0.29 0.2 0.2704 0.3814 0.1613 0.1121 0.2333 0.3091 0.2775 0.2176 0.34 0.38 0.32 0.35 0.28 rs17615 COSM3750834 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign not_specified RCV000455065.1 MedGen CN169374 . . . . . . 0.251 0.295 T 1.0 0.899 D 0.995 0.832 D . . . 0.246 0.349 P 1.975 0.537 M -0.22 0.665 T -1.71 0.470 N 0.115 0.140 -0.966 0.380 T 0.000 0.000 T . . . 4.590 0.615 24.4 0.997 0.823 0.148 0.184 N c 0.384 0.335 0.361 0.198 0.707 0.730 0 4.8 0.610 0.364 0.199 0.953 0.551 0.001 0.137 0.995 0.604 11.288 0.483 Sushi/SCR/CCP domain . . 0.2609 0.3887 0.1611 0.2808 0.1113 0.2317 0.3118 0.2656 0.2197 0.2959 0.3793 0.1782 0.3013 0.0909 0.2265 0.2957 0.2434 hom 3813.33 129 1 207646462 . G A 3813.33 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.77;MQ0=0;QD=29.56;VQSLOD=8.1915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3813,295,0 1 207646898 207646898 T C exonic CR2 nonsynonymous SNV CR2:NM_001006658:exon11:c.T1987C:p.S663P 0.29 0.54 0.21 0.11 0.29 0.2 0.2810 0.4946 0.1676 0.1124 0.2306 0.3072 0.2819 0.2278 0.38 0.5 0.32 0.39 0.28 rs4308977 COSM3746750 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) Benign not_specified RCV000455766.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . -0.02 0.629 T 1.65 0.006 N 0.024 0.007 -0.912 0.466 T 0.000 0.000 T . . . 0.636 0.155 8.401 0.287 0.015 0.001 0.005 N c -1.262 -1.164 0.021 0.134 0.563 0.310 0 1.19 0.200 -1.334 0.028 -0.082 0.119 0.000 0.063 0.533 0.276 7.633 0.273 Sushi/SCR/CCP domain . . 0.2698 0.5037 0.1683 0.2829 0.1117 0.2294 0.3104 0.2707 0.2306 0.3269 0.4905 0.1921 0.3046 0.0908 0.2245 0.2938 0.2536 hom 4422.33 134 1 207646898 . T C 4422.33 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8625;MQ=58.77;MQ0=1;QD=33.00;VQSLOD=9.4971;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4422,346,0 1 207646923 207646923 G A exonic CR2 nonsynonymous SNV CR2:NM_001006658:exon11:c.G2012A:p.R671H 0.26 0.42 0.2 0.11 0.29 0.2 0.2686 0.3809 0.1614 0.1122 0.2306 0.3061 0.2764 0.2176 0.34 0.38 0.31 0.35 0.27 rs17616 COSM3746751 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(large_intestine) Benign not_specified RCV000454598.1 MedGen CN169374 . . . . . . 0.191 0.210 T 0.992 0.629 D 0.674 0.514 P . . . 1 0.090 P . . . -0.12 0.646 T -0.61 0.181 N 0.033 0.013 -1.097 0.044 T 0.000 0.000 T . . . 2.590 0.372 20.1 0.986 0.425 0.002 0.011 N c -1.124 -1.365 0.997 0.355 0.563 0.310 0 -8.57 0.008 -2.147 0.014 -2.196 0.004 0.000 0.063 0.043 0.159 9.186 0.361 Sushi/SCR/CCP domain . . 0.2597 0.3881 0.1611 0.2807 0.1113 0.2292 0.3097 0.2643 0.2197 0.2941 0.3789 0.1782 0.3013 0.0920 0.2244 0.2924 0.2413 hom 5196.90 162 1 207646923 . G A 5196.90 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8865;MQ=58.84;MQ0=1;QD=32.08;VQSLOD=8.9873;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5196,415,0 1 207653395 207653395 C A exonic CR2 nonsynonymous SNV CR2:NM_001877:exon17:c.C3008A:p.A1003E,CR2:NM_001006658:exon18:c.C3185A:p.A1062E 0.94 1. 0.91 1. 0.84 0.94 0.8835 0.9768 0.9190 0.9999 0.8589 0.8401 0.8816 0.9243 0.88 0.98 0.83 0.95 0.84 rs17617 COSM3750836 1(large_intestine) Benign not_specified RCV000455342.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.228 P -0.895 0.014 N 1.59 0.307 T 1.39 0.009 N 0.082 0.075 -0.955 0.401 T 0.000 0.000 T . . . 0.554 0.147 7.834 0.270 0.013 0.006 0.027 N c -1.348 -1.212 0.038 0.144 0.706 0.609 0 -2.09 0.068 -0.173 0.098 -0.161 0.107 0.861 0.304 0.990 0.544 0.278 0.002 . . . 0.8812 0.9783 0.9167 0.8252 0.9997 0.8578 0.8381 0.8642 0.9218 0.8853 0.9727 0.9021 0.8411 0.9994 0.8585 0.8310 0.8418 hom 3344.82 110 1 207653395 . C A 3344.82 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=30.41;VQSLOD=9.2864;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3344,268,0 1 207679307 207679307 A G exonic CR1 synonymous SNV CR1:NM_000573:exon2:c.A180G:p.E60E,CR1:NM_000651:exon2:c.A180G:p.E60E 0.85 0.95 0.91 0.65 0.81 0.92 0.8217 0.9368 0.9096 0.6336 0.8010 0.7984 0.8073 0.8931 0.85 0.94 0.81 0.86 . rs4844600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8229 0.9419 0.9057 0.7983 0.6332 0.7961 0.8003 0.8129 0.8906 0.8297 0.9414 0.8771 0.8079 0.6363 0.7925 0.7946 0.7882 hom 5325.07 177 1 207679307 . A G 5325.07 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3496;MQ=46.48;MQ0=7;QD=29.92;VQSLOD=3.2756;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5324,427,0 1 207782916 207782916 A T exonic CR1 nonsynonymous SNV CR1:NM_000573:exon29:c.A4828T:p.T1610S,CR1:NM_000651:exon37:c.A6178T:p.T2060S 0.99 1. 0.99 1. 0.98 1. 0.9853 0.9958 0.9945 1 0.9855 0.9777 0.9832 0.9960 0.98 1. 0.97 1. . rs4844609 . . . . . . . . . . . . . 0.804 0.031 T 0.0 0.102 B 0.0 0.104 B . . . 1 0.090 P . . . -0.01 0.628 T 0.77 0.027 N 0.003 0.000 -0.947 0.415 T 0.000 0.000 T . . . -1.197 0.025 0.007 0.132 0.003 0.000 0.002 N c -1.298 -1.344 0.000 0.035 0.638 0.428 0 2.54 0.295 -0.871 0.043 0.102 0.200 0.000 0.063 0.001 0.043 4.924 0.131 Sushi/SCR/CCP domain . . 0.9854 0.9966 0.9929 0.9897 1 0.9863 0.9758 0.9844 0.9964 0.9855 0.9958 0.9916 1 1 0.9874 0.977 0.9847 hom 1092.64 37 1 207782916 . A T 1092.64 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=29.53;VQSLOD=8.1166;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:90.25:1126,90,0 1 207795320 207795320 A G exonic CR1 nonsynonymous SNV CR1:NM_000573:exon36:c.A5905G:p.T1969A,CR1:NM_000651:exon44:c.A7255G:p.T2419A 0.83 0.82 0.92 0.69 0.82 0.93 0.8159 0.8092 0.9082 0.6571 0.8056 0.8016 0.8242 0.9039 0.82 0.82 0.82 0.78 . rs2296160 . . . . . . . . . . . . . 0.987 0.020 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 0.55 0.145 N 1.61 0.317 T 0.0 0.085 N 0.044 0.297 -1.013 0.259 T 0.000 0.000 T . . . -3.609 0.000 0.001 0.161 0.004 0.002 0.011 N c -2.910 -2.990 1.000 0.747 0.638 0.428 0 -8.25 0.009 -3.998 0.004 -3.670 0.001 0.000 0.063 0.000 0.016 0.423 0.004 . . . 0.8199 0.8074 0.9067 0.8100 0.6558 0.8031 0.8029 0.8218 0.9012 0.8002 0.8200 0.8957 0.8212 0.6621 0.8052 0.7979 0.7793 hom 809.12 27 1 207795320 . A G 809.12 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.97;VQSLOD=12.7038;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:63.20:842,63,0 1 207851611 207851611 A G exonic CR1L nonsynonymous SNV CR1L:NM_175710:exon3:c.A346G:p.R116G 0.53 0.45 0.38 0.7 0.49 0.59 0.5171 0.455 0.4139 0.6917 0.4763 0.5146 0.5156 0.5614 0.51 0.48 0.52 0.49 . rs2296158 COSM3746755;COSM3746754 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(liver);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -3.12 0.000 N 0.43 0.568 T 7.44 0.000 N 0.057 0.040 -0.921 0.454 T 0.000 0.000 T . . . -0.784 0.041 0.046 0.136 0.003 0.002 0.013 N c -1.544 -1.337 0.996 0.345 0.638 0.428 0 2.73 0.311 2.068 0.409 -0.080 0.119 1.000 0.715 0.058 0.169 5.862 0.179 Sushi/SCR/CCP domain . . 0.5102 0.4497 0.4046 0.5239 0.6947 0.4726 0.5148 0.4954 0.5607 0.4937 0.4608 0.4031 0.5232 0.6986 0.4771 0.5005 0.4703 hom 4851.95 175 1 207851611 . A G 4851.95 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=58.62;MQ0=0;QD=27.73;VQSLOD=7.8714;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:4851,370,0 1 207857254 207857254 A G exonic CR1L nonsynonymous SNV CR1L:NM_175710:exon4:c.A415G:p.I139V 0.16 0.019 0.065 0.36 0.11 0.27 0.1390 0.0320 0.0520 0.3797 0.1109 0.1168 0.1425 0.2385 0.088 0.035 0.11 0.15 . rs3085 COSM3750843;COSM3750844 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.207 0.198 T 0.005 0.119 B 0.066 0.260 B . . . 1 0.090 P 0.86 0.214 L 1.9 0.235 T -0.71 0.202 N 0.173 0.210 -0.900 0.481 T 0.000 0.000 T . . . -0.515 0.055 0.201 0.724 0.097 0.004 0.019 N c -1.237 -1.349 0.990 0.321 0.554 0.246 0 -3.99 0.038 -3.647 0.005 -1.467 0.011 0.000 0.063 0.001 0.043 5.644 0.167 Sushi/SCR/CCP domain ENSG00000197721.12 Whole_Blood 0.1342 0.0287 0.0522 0.1337 0.3816 0.1086 0.1128 0.1243 0.2363 0.1013 0.0308 0.0668 0.1325 0.3841 0.1196 0.1070 0.1306 hom 3182.92 113 1 207857254 . A G 3182.92 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.74;MQ0=1;QD=28.17;VQSLOD=8.7036;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3216,253,0 1 207890866 207890866 T C exonic CR1L nonsynonymous SNV CR1L:NM_175710:exon11:c.T1472C:p.L491P 0.27 0.14 0.51 0.12 0.43 0.26 0.3834 0.1752 0.5213 0.1215 0.4888 0.4371 0.3630 0.2888 0.35 0.17 0.43 0.25 . rs2796257 . . . . . . . . . . . . . 0.285 0.152 T 0.907 0.481 P 0.808 0.567 P . . . 1 0.090 P 2.185 0.615 M 1.89 0.237 T -1.29 0.324 N 0.103 0.107 -0.939 0.429 T 0.000 0.000 T . . . -0.211 0.075 1.042 0.955 0.264 0.011 0.039 N c -0.506 -0.765 0.000 0.052 0.638 0.428 0 -0.852 0.101 0.611 0.238 -0.735 0.035 0.000 0.063 0.000 0.016 2.840 0.051 Sushi/SCR/CCP domain ENSG00000117335.14|ENSG00000117335.14|ENSG00000117335.14 Artery_Tibial|Esophagus_Muscularis|Nerve_Tibial 0.3938 0.1669 0.5204 0.3703 0.1216 0.4940 0.4386 0.4072 0.2919 0.3549 0.1707 0.4832 0.3642 0.1388 0.4923 0.4402 0.4449 hom 4692.79 149 1 207890866 . T C 4692.79 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.7046;MQ=52.61;MQ0=0;QD=31.50;VQSLOD=3.6736;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4692,364,0 1 208207839 208207839 G A exonic PLXNA2 synonymous SNV PLXNA2:NM_025179:exon27:c.C4863T:p.Y1621Y 0.44 0.54 0.45 0.26 0.62 0.31 0.5120 0.5523 0.4250 0.2590 0.5898 0.5870 0.5265 0.3446 0.57 0.55 0.57 0.5 0.55 rs3736963 COSM3746759 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5078 0.5566 0.4329 0.5169 0.2547 0.5937 0.5874 0.5339 0.3485 0.5606 0.5511 0.4785 0.47 0.2342 0.5857 0.6013 0.5727 hom 2445.75 78 1 208207839 . G A 2445.75 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8660;MQ=59.44;MQ0=0;QD=31.36;VQSLOD=9.5655;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2479,193,0 1 208390086 208390086 G C exonic PLXNA2 synonymous SNV PLXNA2:NM_025179:exon2:c.C1182G:p.T394T 0.37 0.36 0.33 0.4 0.3 0.42 0.3476 0.3561 0.3526 0.4183 0.3202 0.3215 0.3273 0.4224 0.34 0.35 0.33 0.4 0.26 rs1664227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3435 0.3454 0.3574 0.2587 0.4093 0.3201 0.3255 0.3230 0.4017 0.3314 0.3413 0.3496 0.2583 0.4133 0.3207 0.3203 0.3241 het 1251.98 101 1 208390086 . G C 1251.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.927;DP=101;Dels=0.00;FS=3.840;HRun=0;HaplotypeScore=3.9668;MQ=59.77;MQ0=0;MQRankSum=-2.050;QD=12.40;ReadPosRankSum=-0.704;VQSLOD=3.9692;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,48:101:99:1282,0,1427 1 208391085 208391085 G A exonic PLXNA2 synonymous SNV PLXNA2:NM_025179:exon2:c.C183T:p.A61A 0.083 0.013 0.14 0.016 0.16 0.12 0.1325 0.0346 0.1498 0.0179 0.1241 0.1595 0.1214 0.1367 0.13 0.045 0.17 0.076 0.18 rs12120681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1353 0.0301 0.1560 0.1095 0.0182 0.1268 0.1647 0.1351 0.1382 0.1102 0.0286 0.1423 0.1391 0.0240 0.1292 0.1588 0.1314 het 4252.05 246 1 208391085 . G A 4252.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.689;DP=246;DS;Dels=0.00;FS=4.395;HRun=0;HaplotypeScore=6.6581;MQ=59.20;MQ0=0;MQRankSum=2.195;QD=17.28;ReadPosRankSum=0.381;VQSLOD=3.7749;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,135:246:99:3631,0,2846 1 208391254 208391254 C T exonic PLXNA2 nonsynonymous SNV PLXNA2:NM_025179:exon2:c.G14A:p.R5Q 0.36 0.36 0.33 0.4 0.3 0.42 0.3521 0.3700 0.3583 0.4261 0.3346 0.3269 0.3297 0.4039 0.33 0.35 0.32 0.39 0.3 rs2782948 COSM1127155 1(haematopoietic_and_lymphoid_tissue);5(prostate);2(large_intestine) . . . . . . . . . . . 0.106 0.296 T 0.883 0.466 P 0.174 0.339 B 0.180 0.032 N 0.850 0.285 P 0 0.065 N 5.56 0.009 T -0.39 0.136 N 0.16 0.192 -0.902 0.478 T 0.000 0.000 T . . . 1.544 0.248 13.55 0.998 0.916 0.913 0.529 D c -0.106 0.006 1.000 0.747 0.722 0.854 0 5.5 0.813 1.149 0.310 0.935 0.490 0.263 0.248 0.120 0.196 13.682 0.618 . . . 0.3437 0.3460 0.3563 0.2577 0.4090 0.3194 0.3261 0.3219 0.4003 0.3301 0.3427 0.3441 0.2616 0.4076 0.3187 0.3182 0.3228 het 780.61 61 1 208391254 . C T 780.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.450;DP=61;Dels=0.00;FS=3.086;HRun=0;HaplotypeScore=1.3670;MQ=59.01;MQ0=0;MQRankSum=0.977;QD=12.80;ReadPosRankSum=-1.469;VQSLOD=6.1888;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,28:61:99:811,0,854 1 209785206 209785206 G A exonic CAMK1G nonsynonymous SNV CAMK1G:NM_020439:exon11:c.G985A:p.V329I 0.18 0.31 0.19 0.11 0.18 0.095 0.1876 0.2969 0.2007 0.1432 0.2599 0.1881 0.2026 0.1009 0.22 0.29 0.18 0.14 0.19 rs11119315 COSM3750848 3(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.199 0.204 T 0.008 0.135 B 0.006 0.112 B 0.110 0.026 N 1 0.090 P 0.895 0.225 L -0.3 0.679 T -0.34 0.127 N 0.055 0.037 -1.076 0.082 T 0.000 0.000 T . . . 0.141 0.107 4.048 0.849 0.150 0.053 0.110 N c -1.323 -1.327 1.000 0.436 0.534 0.214 0 -1.06 0.094 -0.739 0.049 -0.708 0.037 0.000 0.063 0.017 0.128 5.383 0.154 . . . 0.1858 0.2945 0.1897 0.2562 0.1358 0.2584 0.1794 0.1945 0.1024 0.2297 0.2938 0.1885 0.3013 0.1344 0.2607 0.1971 0.2182 het 2720.16 191 1 209785206 . G A 2720.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.609;DP=191;DS;Dels=0.00;FS=1.167;HRun=0;HaplotypeScore=6.1851;MQ=59.00;MQ0=0;MQRankSum=-1.379;QD=14.24;ReadPosRankSum=0.649;VQSLOD=4.4321;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,103:191:99:2750,0,2032 1 209788703 209788703 T C exonic LAMB3 synonymous SNV LAMB3:NM_001017402:exon22:c.A3432G:p.S1144S,LAMB3:NM_000228:exon23:c.A3432G:p.S1144S,LAMB3:NM_001127641:exon23:c.A3432G:p.S1144S 0.46 0.67 0.37 0.38 0.36 0.44 0.4019 0.6193 0.3891 0.4160 0.3931 0.3682 0.4082 0.4057 0.44 0.6 0.36 0.53 0.38 rs1049607 COSM4143295 1(oesophagus);1(thyroid) Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000250773.1|RCV000286254.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3938 0.6198 0.3773 0.4278 0.4166 0.3880 0.3610 0.3756 0.4009 0.4413 0.6055 0.3604 0.4570 0.4294 0.3883 0.3672 0.3898 het 1712.30 133 1 209788703 . T C 1712.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.408;DP=133;Dels=0.00;FS=3.151;HRun=1;HaplotypeScore=3.6052;MQ=58.58;MQ0=0;MQRankSum=-0.207;QD=12.87;ReadPosRankSum=-0.568;VQSLOD=5.6409;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,71:133:99:1742,0,1621 1 209799253 209799253 A G exonic LAMB3 synonymous SNV LAMB3:NM_001017402:exon13:c.T1716C:p.C572C,LAMB3:NM_000228:exon14:c.T1716C:p.C572C,LAMB3:NM_001127641:exon14:c.T1716C:p.C572C 0.77 0.78 0.71 0.83 0.73 0.75 0.7565 0.7736 0.7755 0.8259 0.7369 0.7469 0.7528 0.7425 0.75 0.77 0.73 0.77 0.6 rs2179402 COSM3746765 1(liver);1(thyroid) Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000253193.1|RCV000341091.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7538 0.7677 0.7736 0.8236 0.8226 0.7312 0.7370 0.7411 0.7434 0.7430 0.7665 0.7578 0.8245 0.8080 0.7337 0.7220 0.7434 hom 1081.43 31 1 209799253 . A G 1081.43 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=34.88;VQSLOD=9.3759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:90.25:1114,90,0 1 209807972 209807972 G A exonic LAMB3 synonymous SNV LAMB3:NM_001017402:exon5:c.C384T:p.P128P,LAMB3:NM_000228:exon6:c.C384T:p.P128P,LAMB3:NM_001127641:exon6:c.C384T:p.P128P 0.25 0.091 0.24 0.24 0.39 0.32 0.3625 0.1504 0.2141 0.2551 0.4770 0.4234 0.3674 0.3520 0.31 0.15 0.4 0.15 0.36 rs1130667 COSM3746766 1(breast);1(kidney);1(liver);1(thyroid) Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000242747.1|RCV000339606.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3438 0.1299 0.2134 0.3862 0.2275 0.4554 0.4050 0.3725 0.3402 0.3116 0.1368 0.2363 0.4007 0.2323 0.4702 0.3828 0.3842 het 402.97 40 1 209807972 . G A 402.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.477;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=59.42;MQ0=0;MQRankSum=-0.400;QD=10.07;ReadPosRankSum=0.538;VQSLOD=6.4482;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,16:40:99:433,0,752 1 209811886 209811886 T G exonic LAMB3 synonymous SNV LAMB3:NM_001017402:exon3:c.A291C:p.S97S,LAMB3:NM_000228:exon4:c.A291C:p.S97S,LAMB3:NM_001127641:exon4:c.A291C:p.S97S 0.43 0.35 0.46 0.28 0.64 0.46 0.5709 0.4142 0.4398 0.2927 0.7056 0.6594 0.5980 0.4938 0.57 0.44 0.65 0.33 0.65 rs2076356 COSM146753 1(breast);2(haematopoietic_and_lymphoid_tissue);1(stomach) Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000250461.1|RCV000361905.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5691 0.4096 0.4434 0.6768 0.2863 0.7033 0.6549 0.5993 0.4963 0.5704 0.4120 0.4642 0.7133 0.2758 0.7242 0.6569 0.6391 hom 3486.74 110 1 209811886 . T G 3486.74 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.197;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4706;MQ=60.00;MQ0=0;MQRankSum=-0.441;QD=31.70;ReadPosRankSum=-1.008;VQSLOD=9.0944;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,109:110:99:3451,230,0 1 209933540 209933540 A G exonic TRAF3IP3 synonymous SNV TRAF3IP3:NM_001320143:exon3:c.A156G:p.Q52Q,TRAF3IP3:NM_001320144:exon3:c.A156G:p.Q52Q,TRAF3IP3:NM_025228:exon3:c.A156G:p.Q52Q 0.37 0.74 0.28 0.21 0.24 0.24 0.2810 0.6945 0.2492 0.2195 0.2809 0.2387 0.2533 0.2476 0.38 0.68 0.22 0.52 0.2 rs2076150 COSM4143298;COSM4143297 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2683 0.6988 0.2477 0.1930 0.2250 0.2736 0.2340 0.2534 0.2485 0.3613 0.6796 0.2254 0.1623 0.2367 0.2639 0.2299 0.2699 het 1013.26 85 1 209933540 . A G 1013.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.574;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6598;MQ=59.07;MQ0=0;MQRankSum=1.221;QD=11.92;ReadPosRankSum=0.076;VQSLOD=6.2842;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,42:85:99:1043,0,1064 1 209936914 209936914 C T exonic TRAF3IP3 synonymous SNV TRAF3IP3:NM_001320143:exon8:c.C684T:p.A228A,TRAF3IP3:NM_001320144:exon8:c.C624T:p.A208A,TRAF3IP3:NM_025228:exon8:c.C684T:p.A228A 0.38 0.69 0.28 0.31 0.23 0.27 0.2878 0.6471 0.2430 0.3316 0.2892 0.2385 0.2583 0.2699 0.36 0.64 0.22 0.54 0.17 rs17015169 COSM3997197;COSM3997196 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2753 0.6507 0.2409 0.2098 0.3339 0.2850 0.2316 0.2551 0.2697 0.3566 0.6379 0.2237 0.1755 0.3472 0.2736 0.2294 0.2832 het 450.45 50 1 209936914 . C T 450.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.198;DP=50;Dels=0.00;FS=1.177;HRun=1;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=-1.000;QD=9.01;ReadPosRankSum=-0.050;VQSLOD=6.1055;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,20:50:99:480,0,804 1 209950760 209950760 C G exonic TRAF3IP3 nonsynonymous SNV TRAF3IP3:NM_001287754:exon5:c.C325G:p.Q109E,TRAF3IP3:NM_001320143:exon12:c.C1117G:p.Q373E,TRAF3IP3:NM_001320144:exon12:c.C1057G:p.Q353E,TRAF3IP3:NM_025228:exon12:c.C1117G:p.Q373E 0.81 0.88 0.78 0.81 0.77 0.79 0.7901 0.8662 0.7842 0.8086 0.7425 0.7833 0.7792 0.7836 0.82 0.86 0.8 0.84 0.74 rs669694 COSM1127153 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.497 N 1.000 0.090 P -2.3 0.001 N -1.1 0.773 T 1.91 0.007 N 0.016 0.010 -0.947 0.416 T 0.000 0.000 T . . . 0.751 0.166 9.160 0.882 0.172 0.024 0.067 N c -0.672 -0.357 1.000 0.439 0.672 0.522 0 5.56 0.836 3.948 0.561 0.136 0.221 1.000 0.715 0.999 0.750 15.398 0.744 . ENSG00000117597.13|ENSG00000143469.12|ENSG00000009790.10 Cells_Transformed_fibroblasts|Nerve_Tibial|Whole_Blood 0.7909 0.8680 0.7896 0.8176 0.8057 0.7461 0.7870 0.7907 0.7836 0.8086 0.8654 0.7995 0.8609 0.7993 0.7539 0.7905 0.7800 het 1109.84 83 1 209950760 . C G 1109.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.049;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.68;MQ0=0;MQRankSum=0.548;QD=13.37;ReadPosRankSum=1.114;VQSLOD=6.3495;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,40:83:99:1140,0,1167 1 210004199 210004199 C G exonic DIEXF nonsynonymous SNV DIEXF:NM_014388:exon3:c.C199G:p.Q67E 0.59 0.61 0.54 0.39 0.73 0.67 0.6730 0.5952 0.4837 0.3918 0.7349 0.7469 0.6894 0.6778 0.7 0.59 0.76 0.59 0.75 rs585627 COSM1338527 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -2.42 0.001 N 1.17 0.379 T 1.9 0.005 N 0.06 0.044 -0.936 0.433 T 0.000 0.000 T . . . 0.387 0.131 6.503 0.230 0.010 0.052 0.109 N c -0.823 -0.517 1.000 0.747 0.732 0.924 0 5.02 0.666 5.267 0.651 0.136 0.221 1.000 0.715 0.983 0.502 15.931 0.794 . ENSG00000117597.13|ENSG00000117597.13|ENSG00000117597.13|ENSG00000117597.13|ENSG00000143469.12|ENSG00000117597.13|ENSG00000117597.13 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Spleen|Whole_Blood 0.6681 0.5957 0.4948 0.7426 0.3906 0.7429 0.7498 0.6993 0.6755 0.6858 0.6019 0.5658 0.7483 0.3905 0.7521 0.7551 0.7071 het 1586.55 134 1 210004199 . C G 1586.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.426;DP=134;Dels=0.00;FS=0.717;HRun=0;HaplotypeScore=2.9402;MQ=58.02;MQ0=0;MQRankSum=0.456;QD=11.84;ReadPosRankSum=-1.664;VQSLOD=4.8119;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,58:134:99:1617,0,2044 1 210006603 210006603 C T exonic DIEXF synonymous SNV DIEXF:NM_014388:exon4:c.C462T:p.P154P 0.59 0.61 0.54 0.39 0.73 0.67 0.6741 0.6020 0.4844 0.3937 0.7352 0.7472 0.6909 0.6782 0.71 0.6 0.76 0.59 0.77 rs656566 COSM146755 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6698 0.6032 0.4948 0.7426 0.3906 0.7428 0.7503 0.6997 0.6760 0.6888 0.6115 0.5670 0.7550 0.3896 0.7521 0.7555 0.7067 het 1188.47 84 1 210006603 . C T 1188.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.149;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5562;MQ=59.50;MQ0=0;MQRankSum=-1.592;QD=14.15;ReadPosRankSum=0.306;VQSLOD=5.8442;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,44:84:99:1218,0,983 1 210577873 210577873 G C exonic HHAT synonymous SNV HHAT:NM_001170587:exon5:c.G537C:p.L179L,HHAT:NM_001170588:exon5:c.G339C:p.L113L,HHAT:NM_001122834:exon6:c.G534C:p.L178L,HHAT:NM_001170580:exon6:c.G534C:p.L178L,HHAT:NM_018194:exon6:c.G534C:p.L178L 0.76 0.85 0.84 0.63 0.76 0.71 0.7706 0.8245 0.8677 0.6207 0.8014 0.7732 0.7676 0.7239 0.78 0.81 0.76 0.7 0.75 rs2066721 COSM4415443;COSM4415445;COSM4415444 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7717 0.8225 0.8583 0.7176 0.6175 0.8051 0.7752 0.7692 0.7196 0.7858 0.8188 0.8389 0.7333 0.5890 0.8007 0.7814 0.8033 hom 4725.94 141 1 210577873 . G C 4725.94 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9886;MQ=59.57;MQ0=0;QD=33.52;VQSLOD=8.8498;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4725,367,0 1 210857457 210857457 A G exonic KCNH1 synonymous SNV KCNH1:NM_002238:exon11:c.T2055C:p.D685D,KCNH1:NM_172362:exon11:c.T2136C:p.D712D 0.74 0.81 0.69 0.65 0.71 0.8 0.7114 0.7972 0.6484 0.6478 0.6333 0.7125 0.7430 0.8019 0.74 0.8 0.71 0.7 0.61 rs1135317 COSM5053064 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7101 0.7983 0.6665 0.7731 0.6509 0.6444 0.7105 0.7327 0.8015 0.7057 0.7922 0.6687 0.7567 0.6317 0.6358 0.6813 0.6953 hom 2794.72 94 1 210857457 . A G 2794.72 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.56;MQ0=0;QD=29.73;VQSLOD=8.4794;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2828,241,0 1 211836789 211836789 T C exonic NEK2 synonymous SNV NEK2:NM_002497:exon8:c.A1317G:p.R439R 0.31 0.38 0.35 0.26 0.23 0.32 0.2871 0.3850 0.3793 0.2827 0.2737 0.2525 0.3029 0.2992 0.27 0.36 0.23 0.29 0.22 rs12031285 . . Benign not_specified RCV000454718.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2684 0.3807 0.3520 0.2157 0.2730 0.2586 0.2299 0.2588 0.2829 0.2937 0.3736 0.3628 0.2318 0.2670 0.2529 0.2581 0.2755 het 358.55 28 1 211836789 . T C 358.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.455;DP=28;Dels=0.00;FS=1.882;HRun=1;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;MQRankSum=-0.138;QD=12.81;ReadPosRankSum=-0.553;VQSLOD=5.8985;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,13:28:99:389,0,408 1 211846876 211846876 A G exonic NEK2 synonymous SNV NEK2:NM_001204182:exon3:c.T504C:p.H168H,NEK2:NM_001204183:exon3:c.T504C:p.H168H,NEK2:NM_002497:exon3:c.T504C:p.H168H 0.6 0.55 0.67 0.73 0.47 0.64 0.5584 0.5471 0.7423 0.7285 0.5842 0.4851 0.5881 0.6312 0.5 0.53 0.48 0.51 0.49 rs701929 COSM4770044;COSM4770045;COSM4770043 1(biliary_tract) Benign not_specified RCV000456053.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5671 0.5455 0.7353 0.4785 0.7303 0.5820 0.4818 0.5473 0.6328 0.5509 0.5476 0.7184 0.5199 0.7252 0.5727 0.5189 0.5703 het 1950.40 149 1 211846876 . A G 1950.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.791;DP=149;Dels=0.00;FS=4.623;HRun=0;HaplotypeScore=0.9983;MQ=58.19;MQ0=0;MQRankSum=0.961;QD=13.09;ReadPosRankSum=-0.720;VQSLOD=5.2288;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,83:149:99:1980,0,1843 1 211848807 211848807 A C exonic NEK2 synonymous SNV NEK2:NM_001204182:exon1:c.T15G:p.A5A,NEK2:NM_001204183:exon1:c.T15G:p.A5A,NEK2:NM_002497:exon1:c.T15G:p.A5A 0.032 0.0015 0.11 . 0.064 0.022 0.0544 0.0130 0.1399 0.0005 0.0256 0.0585 0.0480 0.0435 0.046 0.016 0.062 0.022 0.033 rs55635245 . . Benign not_specified RCV000454667.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0576 0.0118 0.1388 0.0318 0.0003 0.0281 0.0609 0.0530 0.0425 0.0427 0.0144 0.1205 0.0331 0.0006 0.0272 0.0624 0.0560 het 1518.89 136 1 211848807 . A C 1518.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.613;DP=136;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4416;MQ=59.31;MQ0=0;MQRankSum=0.207;QD=11.17;ReadPosRankSum=-1.757;VQSLOD=3.5414;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,66:136:99:1549,0,2023 1 212273639 212273639 C T exonic DTL nonsynonymous SNV DTL:NM_001286229:exon12:c.C494T:p.A165V,DTL:NM_001286230:exon13:c.C1181T:p.A394V,DTL:NM_016448:exon14:c.C1307T:p.A436V 0.96 0.91 1. 1. 0.96 0.96 0.9627 0.9216 0.9827 0.9994 0.9723 0.9630 0.9557 0.9495 0.95 0.92 0.96 0.96 0.98 rs3135474 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.103 0.198 N 1 0.090 P -0.69 0.019 N -0.52 0.707 T 0.09 0.059 N 0.054 0.036 -0.956 0.399 T 0.000 0.000 T . . . -1.139 0.027 0.008 0.670 0.080 0.007 0.029 N c -1.351 -1.237 0.908 0.262 0.737 0.974 0 1.48 0.218 0.081 0.146 -0.208 0.100 0.080 0.221 0.883 0.370 11.762 0.510 . ENSG00000229258.1 Testis 0.9651 0.9151 0.9825 0.9879 0.9997 0.9764 0.9619 0.9680 0.9472 0.9533 0.9157 0.9833 0.9801 0.9994 0.9708 0.9637 0.9561 hom 2722 95 1 212273639 . C T 2722 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5741;MQ=59.26;MQ0=0;QD=28.65;VQSLOD=6.4753;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,94:95:99:2755,229,0 1 212274413 212274413 A C exonic DTL nonsynonymous SNV DTL:NM_001286229:exon12:c.A1268C:p.K423T,DTL:NM_001286230:exon13:c.A1955C:p.K652T,DTL:NM_016448:exon14:c.A2081C:p.K694T 1. 1. 1. 1. 0.99 1. 0.9887 0.9979 0.9933 1 0.9853 0.9840 0.9877 0.9952 0.99 1. 0.99 1. 0.99 rs6540718 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.291 N 1 0.090 P -1.525 0.005 N -0.46 0.700 T 0.33 0.039 N 0.03 0.011 -0.950 0.411 T 0.000 0.000 T . . . -0.922 0.035 0.023 0.581 0.058 0.003 0.016 N c -1.308 -1.185 0.826 0.246 0.732 0.924 0 2.71 0.310 -0.676 0.053 0.067 0.174 0.000 0.063 0.241 0.226 5.714 0.171 . . . 0.9897 0.9977 0.9931 0.9958 1 0.9875 0.9844 0.9885 0.9953 0.9889 0.9972 0.9928 0.9934 1 0.9877 0.9830 0.9857 hom 2000.78 60 1 212274413 . A C 2000.78 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.84;MQ0=0;QD=33.35;VQSLOD=9.9711;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2034,156,0 1 212560327 212560327 A G exonic TMEM206 synonymous SNV TMEM206:NM_018252:exon3:c.T249C:p.F83F,TMEM206:NM_001198862:exon4:c.T432C:p.F144F 0.99 1. 0.99 1. 0.98 1. 0.9871 0.9965 0.9946 0.9999 0.9555 0.9838 0.9857 0.9949 0.99 1. 0.98 1. 0.98 rs792449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9860 0.9967 0.9931 0.9943 0.9999 0.9587 0.9828 0.9830 0.9944 0.9852 0.9975 0.9881 1 1 0.9631 0.9815 0.9807 hom 7719.62 231 1 212560327 . A G 7719.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.537;DP=231;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4942;MQ=59.50;MQ0=0;MQRankSum=1.717;QD=33.42;ReadPosRankSum=1.087;VQSLOD=6.2508;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,230:231:99:7688,592,0 1 212798977 212798977 A G exonic FAM71A nonsynonymous SNV FAM71A:NM_153606:exon1:c.A758G:p.N253S 0.25 0.46 0.2 0.08 0.26 0.19 0.2566 0.4426 0.1965 0.0829 0.1733 0.2756 0.25 0.2300 0.34 0.44 0.29 0.3 0.22 rs3122712 COSM3997206 1(haematopoietic_and_lymphoid_tissue);2(pancreas) . . . . . . . . . . . 0.743 0.037 T 0.001 0.067 B 0.0 0.013 B . . . 1 0.090 P -1.24 0.008 N 3.99 0.033 T 1.04 0.013 N 0.028 0.009 -0.968 0.377 T 0.000 0.000 T . . . -0.080 0.086 1.881 0.579 0.057 0.013 0.044 N c -1.440 -1.456 0.000 0.052 0.447 0.083 0 -0.822 0.102 -0.240 0.089 -1.335 0.013 0.000 0.063 0.000 0.016 1.768 0.028 . . . 0.2518 0.4433 0.2031 0.2933 0.0851 0.1745 0.2831 0.2673 0.2296 0.3003 0.4430 0.2267 0.2384 0.0803 0.1842 0.2786 0.2219 het 3224.03 240 1 212798977 . A G 3224.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.647;DP=240;DS;Dels=0.00;FS=1.583;HRun=0;HaplotypeScore=3.3245;MQ=58.98;MQ0=1;MQRankSum=-0.302;QD=13.43;ReadPosRankSum=-1.264;VQSLOD=6.0432;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,119:240:99:3254,0,3163 1 212799870 212799870 A G exonic FAM71A nonsynonymous SNV FAM71A:NM_153606:exon1:c.A1651G:p.N551D 0.78 0.77 0.76 0.68 0.84 0.87 0.8335 0.7890 0.7930 0.6499 0.8813 0.8584 0.8381 0.8656 0.84 0.79 0.87 0.74 0.81 rs3122713 COSM4143311 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.24 0.001 N 4.7 0.017 T 3.74 0.001 N 0.028 0.009 -1.063 0.111 T 0.000 0.000 T . . . 0.179 0.111 4.459 0.634 0.070 0.000 0.003 N c -1.645 -1.528 0.000 0.069 0.554 0.283 0 1.19 0.200 0.015 0.131 -0.221 0.097 0.004 0.165 0.005 0.090 6.564 0.216 . . . 0.8321 0.7833 0.7944 0.7858 0.6502 0.8821 0.8630 0.8271 0.8664 0.8285 0.7828 0.8150 0.7980 0.6248 0.8792 0.8645 0.8612 hom 4203.94 125 1 212799870 . A G 4203.94 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.698;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=59.45;MQ0=0;MQRankSum=-1.620;QD=33.63;ReadPosRankSum=-0.028;VQSLOD=9.6927;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,124:125:99:4167,301,0 1 212799949 212799949 C T exonic FAM71A nonsynonymous SNV FAM71A:NM_153606:exon1:c.C1730T:p.T577M 0.48 0.34 0.32 0.45 0.65 0.68 0.5754 0.3731 0.2757 0.4359 0.7306 0.6391 0.6109 0.6653 0.55 0.39 0.63 0.36 0.66 rs3795842 COSM3721732 3(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.483 0.081 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.245 0.008 N 3.88 0.036 T 1.02 0.014 N 0.033 0.013 -1.091 0.054 T 0.000 0.000 T . . . 0.997 0.189 10.64 0.748 0.105 0.001 0.004 N c -1.414 -1.356 0.002 0.092 0.447 0.083 0 1.7 0.232 0.084 0.146 -0.254 0.089 0.000 0.063 0.000 0.016 3.795 0.082 . . . 0.5669 0.3682 0.2877 0.6140 0.4318 0.7309 0.6360 0.5770 0.6606 0.5510 0.3690 0.3493 0.6490 0.4212 0.7215 0.6339 0.6483 hom 4906.62 162 1 212799949 . C T 4906.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.748;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3776;MQ=59.11;MQ0=0;MQRankSum=1.091;QD=30.29;ReadPosRankSum=-0.962;VQSLOD=7.6554;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,161:162:99:4872,360,0 1 212900487 212900487 A G exonic NSL1 synonymous SNV NSL1:NM_001297739:exon5:c.T534C:p.V178V 0.91 0.91 0.96 0.89 0.92 0.89 0.9154 0.9194 0.9671 0.9022 0.9214 0.9136 0.9092 0.8932 0.91 0.92 0.91 0.92 . rs2244935 COSM4143313 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9125 0.9138 0.9596 0.8943 0.9037 0.9247 0.9052 0.9108 0.8844 0.9094 0.9181 0.9475 0.8907 0.8931 0.9218 0.9014 0.9092 hom 851.95 30 1 212900487 . A G 851.95 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;QD=28.40;VQSLOD=8.3714;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:66.21:885,66,0 1 212911836 212911836 T C exonic NSL1 nonsynonymous SNV NSL1:NM_001297736:exon4:c.A637G:p.M213V,NSL1:NM_015471:exon6:c.A760G:p.M254V 0.61 0.65 0.44 0.53 0.69 0.66 0.6402 0.6723 0.3624 0.5234 0.7456 0.6921 0.6256 0.6245 0.68 0.68 0.68 0.62 0.82 rs15702 COSM3746776 1(haematopoietic_and_lymphoid_tissue);1(liver);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.186 0.032 N 1 0.090 P -1.59 0.004 N 1.85 0.245 T 0.87 0.017 N 0.023 0.006 -0.969 0.374 T 0.000 0.000 T . . . -3.779 0.000 0.001 0.293 0.015 0.006 0.027 N c -2.458 -2.473 1.000 0.747 0.706 0.609 0 -10.5 0.002 -3.803 0.004 -2.388 0.003 0.000 0.063 0.000 0.016 1.497 0.023 . ENSG00000203705.6|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000185523.6|ENSG00000203705.6|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6278 0.6704 0.3876 0.6040 0.5278 0.7329 0.6925 0.6278 0.6212 0.6821 0.6693 0.4462 0.5833 0.5316 0.7320 0.7094 0.6816 hom 3994.29 129 1 212911836 . T C 3994.29 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=30.96;VQSLOD=9.8221;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3994,322,0 1 212965284 212965284 C G exonic TATDN3 synonymous SNV TATDN3:NM_001042552:exon1:c.C21G:p.G7G,TATDN3:NM_001042553:exon1:c.C21G:p.G7G,TATDN3:NM_001146169:exon1:c.C21G:p.G7G,TATDN3:NM_001146170:exon1:c.C21G:p.G7G,TATDN3:NM_001146171:exon1:c.C21G:p.G7G 0.23 0.4 0.12 0.15 0.15 0.23 0.1751 0.3813 0.0959 0.1597 0.1108 0.1617 0.1568 0.1920 0.22 0.36 0.15 0.32 0.14 rs61736926 COSM425259 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1626 0.3770 0.0934 0.1347 0.1504 0.1011 0.1633 0.1608 0.1914 0.2144 0.3768 0.1050 0.1133 0.1667 0.1110 0.1613 0.1507 het 375.87 30 1 212965284 . C G 375.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.898;DP=30;Dels=0.00;FS=2.269;HRun=2;HaplotypeScore=3.1531;MQ=58.45;MQ0=0;MQRankSum=1.286;QD=12.53;ReadPosRankSum=-0.655;VQSLOD=5.0639;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,14:30:99:406,0,371 1 212985592 212985592 G A exonic;splicing TATDN3;TATDN3 NM_001042553:exon9:c.601-1G>A synonymous SNV TATDN3:NM_001146170:exon8:c.G540A:p.K180K,TATDN3:NM_001042552:exon9:c.G603A:p.K201K,TATDN3:NM_001146169:exon9:c.G624A:p.K208K,TATDN3:NM_001146171:exon9:c.G624A:p.K208K 0.02 0.0008 0.02 0.012 0.037 0.038 0.0283 0.0063 0.0129 0.0177 0.0148 0.0334 0.0291 0.0431 0.025 0.0068 0.034 0.022 0.016 rs78095001 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.810 D . . . . . . . . . . . . . . . . . . . . 1.569 0.250 13.68 0.995 0.661 0.981 0.791 D c 0.391 0.467 1.000 0.747 0.732 0.924 0 5.28 0.740 5.251 0.650 0.948 0.535 1.000 0.715 1.000 0.888 18.524 0.909 . ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000185523.6|ENSG00000203705.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.0267 0.0048 0.0133 0.0227 0.0168 0.0143 0.0332 0.0237 0.0435 0.0196 0.0061 0.0155 0.0199 0.0105 0.0160 0.0292 0.0244 het 795.51 47 1 212985592 . G A 795.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.022;DP=47;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=59.20;MQ0=0;MQRankSum=-0.232;QD=16.93;ReadPosRankSum=-0.985;VQSLOD=5.7455;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,30:47:99:826,0,405 1 213009469 213009469 A G exonic SPATA45 nonsynonymous SNV SPATA45:NM_001024601:exon2:c.T23C:p.I8T 0.66 0.79 0.46 0.54 0.74 0.66 0.6720 0.7936 0.3790 0.5389 0.7998 0.7228 0.6520 0.6145 0.74 0.8 0.71 0.69 0.83 rs10864004 COSM3746778 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.041 0.019 N 1 0.090 P . . . 0.97 0.425 T 2.08 0.004 N 0.017 0.003 -1.041 0.170 T 0.000 0.000 T . . . -4.040 0.000 0.001 0.067 0.000 0.002 0.012 N c -2.690 -2.824 1.000 0.747 0.554 0.283 0 -8.99 0.006 -4.616 0.002 -2.318 0.003 0.000 0.063 0.000 0.016 3.346 0.067 . ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000162769.8|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000162769.8|ENSG00000203705.6|ENSG00000198468.3|ENSG00000162769.8|ENSG00000203705.6|ENSG00000198468.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.6558 0.7907 0.3995 0.6035 0.5329 0.7933 0.7243 0.6497 0.6068 0.7393 0.7851 0.4736 0.5667 0.5571 0.7858 0.7401 0.7351 hom 2870.02 91 1 213009469 . A G 2870.02 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=31.54;VQSLOD=8.9796;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2903,223,0 1 213068595 213068595 C T exonic FLVCR1 nonsynonymous SNV FLVCR1:NM_014053:exon10:c.C1631T:p.T544M 0.38 0.13 0.28 0.46 0.5 0.58 0.4492 0.1944 0.2673 0.4787 0.5869 0.4896 0.4681 0.5024 0.38 0.21 0.48 0.34 0.48 rs3207090 COSM1560294 4(prostate) Likely benign|Benign not_specified|Posterior_column_ataxia_with_retinitis_pigmentosa RCV000117088.2|RCV000330210.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1836916:609033:ORPHA88628 . . . . . . 0.007 0.599 D 0.863 0.455 P 0.198 0.351 B 0.159 0.030 N 1 0.090 P 1.95 0.526 M -1.63 0.825 D -0.3 0.119 N 0.196 0.240 -1.009 0.272 T 0.000 0.000 T . . . 0.892 0.179 10.03 0.951 0.257 0.019 0.057 N c -0.801 -0.983 0.016 0.128 0.707 0.730 0 -2.58 0.058 -0.572 0.059 -0.538 0.048 0.000 0.063 0.027 0.143 3.348 0.067 . ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000162769.8|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000162769.8|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000162769.8|ENSG00000198468.3|ENSG00000198468.3|ENSG00000162769.8|ENSG00000198468.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.4448 0.1885 0.2831 0.3741 0.4782 0.5714 0.4901 0.4358 0.4983 0.4131 0.1976 0.3141 0.3841 0.4851 0.5504 0.4987 0.5041 hom 2799.54 95 1 213068595 . C T 2799.54 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;QD=29.47;VQSLOD=9.0380;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2833,220,0 1 214492286 214492286 G A exonic SMYD2 nonsynonymous SNV SMYD2:NM_020197:exon5:c.G494A:p.G165E 0.83 1. 0.76 0.62 0.91 0.8 0.8580 0.9814 0.7025 0.6172 0.8654 0.9091 0.8502 0.8062 0.94 0.98 0.92 0.84 0.88 rs1134647 . . . . . . . . . . . . . 0.834 0.029 T 0.0 0.067 B 0.0 0.040 B 0.000 0.629 N 1.000 0.206 P -1.445 0.006 N 2.57 0.136 T 2.69 0.002 N 0.033 0.013 -0.917 0.459 T 0.000 0.000 T . . . 1.413 0.233 12.86 0.391 0.027 0.242 0.221 N c -0.677 -0.466 1.000 0.747 0.707 0.730 0 5.48 0.806 4.948 0.631 0.244 0.267 1.000 0.715 0.658 0.300 11.467 0.493 SET domain . . 0.8484 0.9835 0.7158 0.8262 0.6200 0.8650 0.9145 0.8579 0.8075 0.9032 0.9802 0.7936 0.8212 0.6030 0.8581 0.9100 0.8865 hom 4676.06 150 1 214492286 . G A 4676.06 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3732;MQ=59.44;MQ0=0;QD=31.17;VQSLOD=8.1129;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4676,373,0 1 214542819 214542819 T C exonic PTPN14 synonymous SNV PTPN14:NM_005401:exon17:c.A3252G:p.E1084E 0.78 0.96 0.67 0.65 0.78 0.78 0.7695 0.9362 0.6400 0.6186 0.7866 0.7819 0.7401 0.7787 0.83 0.93 0.78 0.77 0.7 rs1135352 COSM146762 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7594 0.9379 0.6481 0.7075 0.6208 0.7865 0.7842 0.7416 0.7799 0.8203 0.9334 0.6993 0.6987 0.6228 0.7798 0.7958 0.7994 hom 5423.96 163 1 214542819 . T C 5423.96 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9052;MQ=59.58;MQ0=0;QD=33.28;VQSLOD=9.0943;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:5424,421,0 1 214564340 214564340 T C exonic PTPN14 synonymous SNV PTPN14:NM_005401:exon11:c.A978G:p.R326R 0.79 0.99 0.68 0.63 0.77 0.76 0.7725 0.9633 0.6424 0.6137 0.7769 0.7869 0.7247 0.7685 0.84 0.95 0.78 0.78 0.74 rs7550799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7608 0.9667 0.6441 0.7276 0.6141 0.7740 0.7886 0.7409 0.7666 0.8295 0.9580 0.6974 0.7252 0.6110 0.7668 0.8041 0.8014 hom 1467.89 49 1 214564340 . T C 1467.89 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.37;MQ0=0;QD=29.96;VQSLOD=8.8756;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1501,114,0 1 214787130 214787130 G A exonic CENPF synonymous SNV CENPF:NM_016343:exon2:c.G33A:p.G11G 0.24 0.052 0.32 0.12 0.5 0.28 0.3957 0.1009 0.2497 0.1152 0.4505 0.5145 0.4324 0.3251 0.38 0.12 0.52 0.25 0.46 rs2070064 COSM425275 1(liver);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3986 0.0958 0.2623 0.4939 0.1155 0.4606 0.5207 0.4190 0.3255 0.3735 0.1108 0.2907 0.4603 0.1026 0.4610 0.5327 0.4613 het 1705.07 111 1 214787130 . G A 1705.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.717;DP=111;Dels=0.00;FS=1.624;HRun=0;HaplotypeScore=3.3514;MQ=58.49;MQ0=0;MQRankSum=2.170;QD=15.36;ReadPosRankSum=1.196;VQSLOD=4.7206;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,68:111:99:1735,0,1113 1 214814571 214814571 C T exonic CENPF synonymous SNV CENPF:NM_016343:exon12:c.C2890T:p.L964L 0.24 0.052 0.32 0.12 0.5 0.29 0.3971 0.1013 0.2497 0.1168 0.4499 0.5156 0.4265 0.3210 0.38 0.12 0.51 0.26 0.32 rs3795521 COSM425278 1(bone);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3960 0.0955 0.2601 0.4889 0.1150 0.4587 0.5195 0.4134 0.3186 0.3743 0.1112 0.2926 0.4669 0.1033 0.4609 0.5334 0.4640 het 617.96 53 1 214814571 . C T 617.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.211;DP=53;Dels=0.00;FS=4.576;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.619;QD=11.66;ReadPosRankSum=-1.247;VQSLOD=5.9110;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,23:53:99:648,0,885 1 214820099 214820099 A G exonic CENPF nonsynonymous SNV CENPF:NM_016343:exon13:c.A7186G:p.N2396D 0.23 0.052 0.31 0.12 0.48 0.29 0.3926 0.1019 0.2490 0.1172 0.4398 0.5087 0.4187 0.3225 0.38 0.12 0.51 0.25 0.35 rs3748697 COSM425281 3(prostate);1(large_intestine) . . . . . . . . . . . 0.552 0.065 T 0.013 0.154 B 0.018 0.173 B 0.021 0.268 N 0.914 0.274 P 1.06 0.271 L 0.96 0.429 T -0.8 0.221 N 0.007 0.000 -0.916 0.461 T 0.000 0.000 T . . . 0.667 0.158 8.610 0.766 0.112 0.324 0.244 N c -0.792 -0.772 0.987 0.311 0.732 0.924 0 3.97 0.451 0.224 0.174 1.176 0.903 0.003 0.159 0.607 0.290 5.149 0.142 . . . 0.3922 0.0954 0.2620 0.4938 0.1154 0.4489 0.5125 0.4133 0.3247 0.3687 0.1102 0.2900 0.4667 0.1032 0.4538 0.5247 0.4581 het 421.24 35 1 214820099 . A G 421.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.139;DP=35;Dels=0.00;FS=3.067;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.073;QD=12.04;ReadPosRankSum=-1.073;VQSLOD=6.0148;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,18:35:99:451,0,466 1 214826196 214826196 G A exonic CENPF nonsynonymous SNV CENPF:NM_016343:exon16:c.G8186A:p.R2729Q 0.56 0.29 0.59 0.88 0.44 0.7 0.5174 0.3195 0.6967 0.8872 0.4938 0.4386 0.5144 0.6516 0.39 0.32 0.43 0.42 0.38 rs335524 . . . . . . . . . . . . . 0.688 0.043 T 0.003 0.102 B 0.001 0.040 B . . . 1.000 0.090 P -0.28 0.037 N 4.11 0.029 T 0.66 0.023 N 0.02 0.004 -1.022 0.229 T 0.000 0.000 T . . . -0.536 0.053 0.179 0.130 0.002 0.017 0.054 N c -1.667 -1.697 0.883 0.256 0.707 0.730 0 -6.44 0.017 -0.027 0.122 -1.158 0.017 0.273 0.248 0.358 0.247 14.173 0.649 . . . 0.5189 0.3084 0.6805 0.4724 0.8890 0.4919 0.4273 0.5240 0.6392 0.4197 0.3037 0.6394 0.4603 0.8853 0.4816 0.4069 0.4541 het 1479.15 120 1 214826196 . G A 1479.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.044;DP=120;Dels=0.00;FS=3.512;HRun=1;HaplotypeScore=0.5784;MQ=59.61;MQ0=0;MQRankSum=1.998;QD=12.33;ReadPosRankSum=0.076;VQSLOD=6.0863;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,58:120:99:1509,0,1393 1 214830617 214830617 A G exonic CENPF nonsynonymous SNV CENPF:NM_016343:exon18:c.A8827G:p.R2943G 0.62 0.35 0.64 0.89 0.56 0.74 0.5987 0.3949 0.7356 0.8838 0.5753 0.5448 0.5894 0.7086 0.49 0.4 0.54 0.51 0.62 rs438034 . . . . . . . Response to antineoplastic agents 1.88 . 21659360 rs438034 5E-6 0.663 0.046 T 0.0 0.026 B 0.0 0.013 B 0.879 0.088 N 1.000 0.186 P -1.63 0.004 N 4.17 0.028 T 0.96 0.015 N 0.027 0.009 -1.060 0.117 T 0.000 0.000 T . . . 1.002 0.190 10.67 0.678 0.082 0.008 0.034 N c -1.105 -0.987 0.999 0.399 0.707 0.730 0 2.52 0.294 0.952 0.285 -0.196 0.103 0.307 0.252 0.004 0.083 7.878 0.286 . . . 0.6051 0.3837 0.7234 0.5579 0.8851 0.5731 0.5395 0.5923 0.7067 0.5075 0.3792 0.6878 0.5563 0.8817 0.5650 0.5146 0.5473 het 1348.88 109 1 214830617 . A G 1348.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.744;DP=109;Dels=0.00;FS=4.886;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.108;QD=12.38;ReadPosRankSum=-0.772;VQSLOD=5.8767;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,48:109:99:1379,0,1733 1 214837110 214837110 C G exonic CENPF nonsynonymous SNV CENPF:NM_016343:exon20:c.C9318G:p.N3106K 0.63 0.38 0.68 0.89 0.56 0.75 0.6080 0.4211 0.7583 0.8807 0.5760 0.5518 0.6102 0.7157 0.5 0.42 0.55 0.51 0.6 rs7289 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.073 0.214 N 1 0.090 P -0.975 0.012 N 4.04 0.032 T 0.39 0.035 N 0.017 0.003 -1.012 0.264 T 0.000 0.000 T . . . 0.570 0.148 7.945 0.342 0.021 0.001 0.009 N c -1.333 -1.199 0.998 0.367 0.707 0.730 0 3.74 0.419 0.576 0.233 0.136 0.221 0.001 0.137 0.003 0.074 4.434 0.109 Kinetochore protein Cenp-F/LEK1\x2c Rb protein-binding domain . . 0.6142 0.4075 0.7494 0.5624 0.8822 0.5745 0.5460 0.6002 0.7134 0.5199 0.4045 0.7029 0.5667 0.8801 0.5679 0.5230 0.5624 het 544.07 46 1 214837110 . C G 544.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.102;DP=46;Dels=0.00;FS=4.119;HRun=2;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;MQRankSum=-1.919;QD=11.83;ReadPosRankSum=0.221;VQSLOD=5.1001;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,21:46:99:574,0,619 1 215793834 215793834 G A exonic KCTD3 synonymous SNV KCTD3:NM_001319294:exon18:c.G2316A:p.A772A,KCTD3:NM_001319295:exon18:c.G2010A:p.A670A,KCTD3:NM_016121:exon18:c.G2322A:p.A774A 0.41 0.29 0.61 0.35 0.64 0.28 0.5547 0.3188 0.6304 0.3625 0.6905 0.6489 0.5628 0.3143 0.54 0.32 0.66 0.46 0.64 rs14137 COSM3750862 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5643 0.3081 0.6362 0.5600 0.3743 0.6897 0.6511 0.5753 0.3132 0.5596 0.3169 0.6316 0.5728 0.4152 0.7142 0.6713 0.6309 hom 2837.07 103 1 215793834 . G A 2837.07 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.951;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9658;MQ=59.10;MQ0=0;MQRankSum=0.755;QD=27.54;ReadPosRankSum=2.128;VQSLOD=7.1387;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:3,100:103:99:2870,158,0 1 215848062 215848062 C T exonic USH2A synonymous SNV USH2A:NM_206933:exon63:c.G13191A:p.E4397E 0.2 0.035 0.18 0.35 0.19 0.31 0.1993 0.0568 0.1703 0.3529 0.2174 0.1823 0.2081 0.2899 0.14 0.062 0.19 0.18 0.14 rs2009923 COSM3746785;COSM3746784 1(haematopoietic_and_lymphoid_tissue);1(liver);2(large_intestine) Benign not_specified RCV000041736.5 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2029 0.0535 0.1758 0.2214 0.3515 0.2079 0.1837 0.1895 0.2860 0.1561 0.0540 0.1838 0.2020 0.3408 0.2116 0.1795 0.1670 het 966.35 84 1 215848062 . C T 966.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.595;DP=84;Dels=0.00;FS=1.785;HRun=1;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;MQRankSum=-0.018;QD=11.50;ReadPosRankSum=-1.721;VQSLOD=6.2387;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,37:84:99:996,0,1336 1 215848587 215848587 T C exonic USH2A synonymous SNV USH2A:NM_206933:exon63:c.A12666G:p.T4222T 0.3 0.18 0.45 0.32 0.37 0.28 0.3651 0.2145 0.4779 0.3201 0.3969 0.3866 0.3642 0.3047 0.33 0.22 0.39 0.28 0.33 rs2797234 COSM146764;COSM4415364 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) Benign not_specified RCV000041726.5 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3704 0.2137 0.4701 0.3199 0.3267 0.4011 0.3857 0.3771 0.3016 0.3488 0.2163 0.4308 0.3212 0.3261 0.4090 0.4076 0.3898 het 1533.46 124 1 215848587 . T C 1533.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.679;DP=124;Dels=0.00;FS=5.749;HRun=0;HaplotypeScore=0.8667;MQ=59.65;MQ0=0;MQRankSum=0.954;QD=12.37;ReadPosRankSum=-0.278;VQSLOD=5.8535;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,58:124:99:1563,0,1692 1 215848641 215848641 T C exonic USH2A synonymous SNV USH2A:NM_206933:exon63:c.A12612G:p.T4204T 0.69 0.61 0.8 0.64 0.81 0.64 0.7662 0.6324 0.8208 0.6468 0.7380 0.8137 0.7804 0.6925 0.75 0.64 0.81 0.59 0.8 rs2797235 COSM146765 1(stomach) Benign\x2cBenign not_specified\x2cnot_specified RCV000152568.2\x2cRCV000154669.2 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7673 0.6274 0.8081 0.7964 0.6486 0.7476 0.8129 0.7922 0.6955 0.7443 0.6261 0.7995 0.8013 0.6549 0.7467 0.8144 0.7984 het 2171.53 150 1 215848641 . T C 2171.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.185;DP=150;Dels=0.00;FS=2.968;HRun=0;HaplotypeScore=3.8584;MQ=59.88;MQ0=0;MQRankSum=2.552;QD=14.48;ReadPosRankSum=0.596;VQSLOD=4.6406;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,88:150:99:2202,0,1603 1 215914826 215914826 T C exonic USH2A nonsynonymous SNV USH2A:NM_206933:exon60:c.A11602G:p.M3868V 0.16 0.2 0.2 0.084 0.24 0.074 0.1960 0.1900 0.1914 0.0988 0.2435 0.2301 0.2258 0.0954 0.22 0.19 0.23 0.12 0.17 rs35309576 COSM3735953;COSM146766 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(skin);1(prostate);2(large_intestine) Likely benign\x2cBenign not_specified\x2cnot_specified RCV000217475.1\x2cRCV000041699.5 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.917 0.085 N 1 0.090 P 0.2 0.092 N 2.69 0.123 T -0.33 0.125 N 0.04 0.049 -0.919 0.457 T 0.000 0.000 T . . . -1.535 0.016 0.002 0.521 0.046 0.020 0.060 N c -1.786 -1.818 0.957 0.283 0.487 0.133 0 -9.68 0.004 -2.259 0.013 -2.283 0.003 0.000 0.063 0.510 0.273 7.571 0.269 Fibronectin type III|Immunoglobulin-like fold . . 0.1964 0.1904 0.1995 0.2013 0.0958 0.2393 0.2293 0.2100 0.0983 0.2146 0.1904 0.1962 0.1967 0.0848 0.2488 0.2361 0.2180 het 1650.14 164 1 215914826 . T C 1650.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.854;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8537;MQ=58.47;MQ0=0;MQRankSum=0.415;QD=10.06;ReadPosRankSum=-0.171;VQSLOD=5.1511;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,67:164:99:1680,0,2415 1 215916563 215916563 G A exonic USH2A nonsynonymous SNV USH2A:NM_206933:exon59:c.C11504T:p.T3835I 0.14 0.15 0.19 0.084 0.23 0.074 0.1918 0.1449 0.1900 0.0986 0.2433 0.2301 0.2225 0.0948 0.2 0.14 0.23 0.065 0.16 rs11120616 COSM146767;COSM3735954 1(stomach);1(skin);2(large_intestine) Benign not_specified RCV000041698.4 MedGen CN169374 . . . . . . 0.183 0.217 T 0.055 0.213 B 0.055 0.246 B 0.926 0.075 N 1.000 0.201 P 1.24 0.311 L 0.35 0.580 T -1.61 0.387 N 0.136 0.157 -1.119 0.024 T 0.000 0.000 T . . . 2.906 0.410 21.9 0.992 0.554 0.777 0.379 D c -0.115 0.044 0.020 0.133 0.487 0.133 0 4.94 0.645 1.358 0.335 1.048 0.713 0.921 0.317 0.963 0.446 11.574 0.499 Fibronectin type III|Immunoglobulin-like fold . . 0.1923 0.1401 0.1966 0.2008 0.0948 0.2393 0.2286 0.2080 0.0973 0.1952 0.1387 0.1938 0.1954 0.0824 0.2410 0.2291 0.2107 het 2230.40 181 1 215916563 . G A 2230.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.231;DP=181;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.0110;MQ=59.12;MQ0=0;MQRankSum=-0.556;QD=12.32;ReadPosRankSum=0.848;VQSLOD=6.3330;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,90:181:99:2260,0,2384 1 215960167 215960167 T G exonic USH2A nonsynonymous SNV USH2A:NM_206933:exon52:c.A10232C:p.E3411A 0.59 0.71 0.49 0.65 0.54 0.49 0.5469 0.6816 0.5730 0.6404 0.5615 0.5209 0.5684 0.4927 0.57 0.67 0.52 0.56 0.55 rs10864198 COSM3750863;COSM3750864 1(prostate);1(large_intestine) Benign\x2cBenign not_specified\x2cnot_specified RCV000154357.1\x2cRCV000041665.8 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.445 N 1.000 0.090 P -1.955 0.002 N 3.21 0.071 T 2.31 0.003 N 0.156 0.186 -0.970 0.372 T 0.000 0.000 T . . . 0.031 0.097 2.889 0.138 0.003 0.023 0.065 N c -1.155 -0.923 0.100 0.164 0.487 0.133 0 4.88 0.630 2.959 0.486 0.136 0.221 0.998 0.411 0.007 0.100 13.071 0.583 Fibronectin type III ENSG00000082482.9 Muscle_Skeletal 0.5476 0.6846 0.5756 0.5351 0.6340 0.5502 0.5222 0.5548 0.4938 0.5802 0.6839 0.5634 0.5596 0.6160 0.5628 0.5246 0.5316 hom 2317.90 70 1 215960167 . T G 2317.90 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.63;MQ0=0;QD=33.11;VQSLOD=8.5068;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2351,190,0 1 216172380 216172380 A G exonic USH2A nonsynonymous SNV USH2A:NM_206933:exon34:c.T6506C:p.I2169T 0.59 0.42 0.65 0.83 0.5 0.64 0.5567 0.4328 0.6918 0.8351 0.5782 0.5039 0.5308 0.6011 0.48 0.44 0.5 0.54 0.53 rs10864219 COSM3750868;COSM3750867 1(pancreas);1(large_intestine) Benign not_specified RCV000041888.5 MedGen CN169374 . . . . . . 0.239 0.177 T 0.094 0.238 B 0.016 0.166 B 0.589 0.111 N 1.000 0.206 P 0.895 0.225 L 0.66 0.524 T -1.31 0.328 N 0.074 0.064 -0.984 0.342 T 0.000 0.000 T . . . 2.011 0.303 16.28 0.936 0.228 0.924 0.553 D c -0.420 -0.181 0.001 0.086 0.487 0.133 0 5.77 0.910 2.365 0.436 1.088 0.866 0.983 0.354 0.651 0.299 11.547 0.498 Fibronectin type III|Immunoglobulin-like fold . . 0.5625 0.4323 0.6702 0.4907 0.8396 0.5748 0.4995 0.5546 0.5976 0.5129 0.4312 0.6502 0.4934 0.82 0.5762 0.5029 0.5502 het 868.62 72 1 216172380 . A G 868.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.825;DP=72;Dels=0.00;FS=1.992;HRun=0;HaplotypeScore=0.8321;MQ=58.41;MQ0=1;MQRankSum=-0.478;QD=12.06;ReadPosRankSum=-0.259;VQSLOD=5.8255;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,33:72:99:899,0,947 1 216219781 216219781 A G exonic USH2A nonsynonymous SNV USH2A:NM_206933:exon32:c.T6317C:p.I2106T 0.6 0.8 0.47 0.45 0.66 0.5 0.6069 0.7653 0.3286 0.4430 0.6476 0.6715 0.6211 0.5092 0.7 0.76 0.67 0.54 0.75 rs6657250 COSM5008340;COSM146769 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign\x2cBenign not_specified\x2cnot_specified RCV000154356.2\x2cRCV000154111.3 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.162 0.176 N 1 0.090 P -1.85 0.003 N 0.78 0.494 T 1.96 0.004 N 0.06 0.054 -0.969 0.374 T 0.000 0.000 T . . . 0.402 0.133 6.630 0.641 0.072 0.035 0.086 N c -0.845 -0.593 1.000 0.418 0.487 0.133 0 5.42 0.786 1.260 0.324 0.138 0.222 0.788 0.293 0.786 0.332 5.369 0.153 Fibronectin type III|Immunoglobulin-like fold . . 0.5940 0.7711 0.3509 0.6798 0.4395 0.6481 0.6711 0.6152 0.5076 0.6759 0.7590 0.4305 0.7252 0.4381 0.6447 0.6750 0.6405 het 1166.23 72 1 216219781 . A G 1166.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.926;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;MQRankSum=0.229;QD=16.20;ReadPosRankSum=-0.698;VQSLOD=6.3948;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,46:72:99:1196,0,617 1 216348764 216348764 C T exonic USH2A nonsynonymous SNV USH2A:NM_007123:exon21:c.G4457A:p.R1486K,USH2A:NM_206933:exon21:c.G4457A:p.R1486K 0.66 0.55 0.7 0.78 0.61 0.71 0.6580 0.5770 0.7430 0.7839 0.7092 0.6247 0.6788 0.6972 0.61 0.6 0.61 0.64 0.62 rs1805049 COSM3746790;COSM3746789;COSM3746788 1(liver);1(large_intestine) Benign\x2cBenign not_specified\x2cnot_specified RCV000154339.2\x2cRCV000154668.1 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . 0.416 0.099 T 0.118 0.250 B 0.031 0.206 B 0.332 0.141 U 1 0.090 P 2.25 0.640 M 0.61 0.535 T -0.16 0.095 N 0.052 0.130 -1.017 0.247 T 0.000 0.000 T . . . 0.348 0.127 6.144 0.898 0.185 0.032 0.081 N c -0.865 -0.907 0.000 0.035 0.487 0.133 0 -2.24 0.065 -1.524 0.023 0.029 0.149 0.000 0.063 0.275 0.232 1.701 0.027 Fibronectin type III|Immunoglobulin-like fold . . 0.6608 0.5800 0.7184 0.5779 0.7802 0.7196 0.6226 0.6308 0.6987 0.6392 0.5818 0.7069 0.6258 0.7557 0.7133 0.6369 0.6786 hom 1759.67 58 1 216348764 . C T 1759.67 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.777;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9325;MQ=59.60;MQ0=0;MQRankSum=0.000;QD=30.34;ReadPosRankSum=1.015;VQSLOD=9.2173;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,57:58:99:1793,107,0 1 216592003 216592003 T C exonic USH2A synonymous SNV USH2A:NM_007123:exon3:c.A504G:p.T168T,USH2A:NM_206933:exon3:c.A504G:p.T168T 0.63 0.45 0.66 0.82 0.66 0.63 0.6485 0.4936 0.6990 0.8390 0.6892 0.6462 0.6542 0.6039 0.6 0.51 0.64 0.56 0.61 rs4253963 . . Benign|Benign|Benign not_specified|Retinitis_pigmentosa-deafness_syndrome|Retinitis_Pigmentosa\x2c_Recessive RCV000041854.4|RCV000260536.1|RCV000332187.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0271097:500004:ORPHA886:57838006|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6525 0.4917 0.6959 0.5697 0.8402 0.6935 0.6474 0.6230 0.6004 0.6268 0.5034 0.6679 0.5833 0.8352 0.6936 0.6573 0.6599 hom 2586.53 92 1 216592003 . T C 2586.53 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.71;MQ0=0;QD=28.11;VQSLOD=8.3564;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2620,208,0 1 216595306 216595306 C T exonic USH2A nonsynonymous SNV USH2A:NM_007123:exon2:c.G373A:p.A125T,USH2A:NM_206933:exon2:c.G373A:p.A125T 0.76 0.76 0.71 0.81 0.73 0.77 0.7293 0.7527 0.7321 0.8348 0.7712 0.7059 0.7368 0.7349 0.72 0.76 0.7 0.73 0.75 rs10779261 . . Benign|Benign|Benign not_specified|Retinitis_pigmentosa-deafness_syndrome|Retinitis_Pigmentosa\x2c_Recessive RCV000041833.5|RCV000291734.1|RCV000344307.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0271097:500004:ORPHA886:57838006|CN239466 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.681 0.102 N 1 0.090 P -1.935 0.002 N -0.1 0.643 T 0.59 0.026 N 0.009 0.003 -0.961 0.391 T 0.000 0.000 T . . . 0.028 0.096 2.856 0.299 0.016 0.006 0.028 N c -1.546 -1.443 0.000 0.044 0.487 0.133 0 -1.4 0.085 0.358 0.198 -0.254 0.089 0.039 0.207 0.053 0.166 0.874 0.011 Concanavalin A-like lectin/glucanase domain . . 0.7286 0.7556 0.7318 0.6581 0.8374 0.7738 0.7052 0.6908 0.7319 0.7398 0.7588 0.7213 0.6854 0.8346 0.7649 0.7147 0.7429 hom 2323.56 78 1 216595306 . C T 2323.56 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;QD=29.79;VQSLOD=8.5434;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2357,196,0 1 216692669 216692669 C T exonic ESRRG synonymous SNV ESRRG:NM_001243505:exon6:c.G204A:p.S68S,ESRRG:NM_001243506:exon6:c.G402A:p.S134S,ESRRG:NM_001243514:exon6:c.G888A:p.S296S,ESRRG:NM_001438:exon6:c.G957A:p.S319S,ESRRG:NM_001243507:exon7:c.G771A:p.S257S,ESRRG:NM_001243511:exon7:c.G888A:p.S296S,ESRRG:NM_001243513:exon7:c.G888A:p.S296S,ESRRG:NM_001243518:exon7:c.G993A:p.S331S,ESRRG:NM_206595:exon7:c.G888A:p.S296S,ESRRG:NM_001134285:exon8:c.G888A:p.S296S,ESRRG:NM_001243509:exon8:c.G888A:p.S296S,ESRRG:NM_001243510:exon8:c.G888A:p.S296S,ESRRG:NM_001243512:exon8:c.G888A:p.S296S,ESRRG:NM_001243515:exon8:c.G888A:p.S296S,ESRRG:NM_001243519:exon8:c.G888A:p.S296S,ESRRG:NM_001350123:exon8:c.G888A:p.S296S,ESRRG:NM_001350125:exon8:c.G888A:p.S296S,ESRRG:NM_206594:exon8:c.G888A:p.S296S,ESRRG:NM_001350122:exon9:c.G888A:p.S296S,ESRRG:NM_001350124:exon9:c.G888A:p.S296S 0.63 0.73 0.64 0.74 0.43 0.59 0.5030 0.6727 0.6335 0.7183 0.3831 0.4178 0.5121 0.5843 0.5 0.66 0.41 0.66 0.36 rs945453 COSM3746795;COSM3746794 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5040 0.6745 0.6387 0.6001 0.7210 0.3795 0.4009 0.5059 0.5834 0.4977 0.6666 0.5909 0.5867 0.7181 0.3986 0.3946 0.4593 het 291.22 63 1 216692669 . C T 291.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.073;DP=63;Dels=0.00;FS=4.351;HRun=0;HaplotypeScore=0.9469;MQ=59.19;MQ0=0;MQRankSum=0.040;QD=4.62;ReadPosRankSum=0.670;VQSLOD=4.0378;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,15:63:99:321,0,1290 1 217947738 217947738 G A exonic SPATA17 synonymous SNV SPATA17:NM_138796:exon7:c.G582A:p.Q194Q 0.73 0.69 0.68 0.73 0.81 0.73 0.7737 0.6969 0.6469 0.7615 0.9043 0.8073 0.7841 0.7285 0.77 0.71 0.8 0.75 0.82 rs6604561 COSM4419273 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7707 0.6985 0.6491 0.6971 0.7662 0.9095 0.8091 0.7626 0.7266 0.7887 0.7022 0.6890 0.6533 0.7701 0.9089 0.8192 0.8200 hom 3666.62 125 1 217947738 . G A 3666.62 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.82;MQ0=0;QD=29.33;VQSLOD=8.7549;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3666,277,0 1 219383905 219383905 A G exonic LYPLAL1 nonsynonymous SNV LYPLAL1:NM_001300769:exon3:c.A240G:p.I80M,LYPLAL1:NM_001300770:exon4:c.A345G:p.I115M,LYPLAL1:NM_001300771:exon4:c.A279G:p.I93M,LYPLAL1:NM_001300772:exon4:c.A279G:p.I93M,LYPLAL1:NM_138794:exon4:c.A393G:p.I131M,LYPLAL1:NM_001350628:exon5:c.A420G:p.I140M,LYPLAL1:NM_001350629:exon5:c.A372G:p.I124M 0.96 0.86 1. 1. 1. 1. 0.9895 0.8864 0.9937 1 1 0.9998 0.9967 0.9999 0.96 0.9 1. 0.89 1. rs940570 . . . . . . . . . . . . . 0.598 0.057 T 0.0 0.026 B 0.0 0.040 B 0.000 0.537 N 1.000 0.195 P -0.95 0.013 N 1.9 0.235 T 1.29 0.010 N 0.058 0.344 -0.954 0.403 T 0.000 0.000 T . . . 1.779 0.275 14.86 0.855 0.154 0.130 0.174 N c -0.526 -0.256 1.000 0.517 0.706 0.609 0 4.09 0.469 2.211 0.422 0.138 0.222 1.000 0.715 0.999 0.750 11.965 0.521 Alpha/Beta hydrolase fold|Phospholipase/carboxylesterase/thioesterase . . 0.9917 0.8830 0.9941 0.9999 0.9999 1 0.9997 0.9956 0.9998 0.9669 0.8841 0.9964 1 1 1 0.9997 0.9939 hom 1751.10 59 1 219383905 . A G 1751.10 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.49;MQ0=0;QD=29.68;VQSLOD=8.2264;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1784,141,0 1 220193423 220193423 T C exonic EPRS nonsynonymous SNV EPRS:NM_004446:exon10:c.A1256G:p.Y419C 0.0044 0.0008 0.0058 . 0.013 0.0041 0.0152 0.0024 0.0029 0 0.0414 0.0218 0.0132 0.0028 0.015 0.0032 0.022 0.022 0.0082 rs114015346 . . . . . . . . . . . . . 0.012 0.546 D 0.996 0.715 D 0.926 0.651 D 0.000 0.537 D 1 0.810 D 3.245 0.900 M 1.85 0.245 T -6.27 0.906 D 0.4 0.459 -0.775 0.566 T 0.105 0.384 T . . . 5.560 0.756 26.4 0.998 0.853 0.971 0.723 D c 0.701 0.641 0.828 0.246 0.732 0.924 0 4.68 0.582 5.747 0.681 1.061 0.807 1.000 0.715 1.000 0.888 12.337 0.542 Glutamyl/glutaminyl-tRNA synthetase\x2c class Ib\x2c catalytic domain|Rossmann-like alpha/beta/alpha sandwich fold . . 0.0154 0.0022 0.0029 0.0096 0 0.0455 0.0215 0.0117 0.0027 0.0180 0.0034 0.0072 0.0066 0 0.0495 0.0216 0.0224 het 2008.11 166 1 220193423 . T C 2008.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.592;DP=166;Dels=0.00;FS=3.611;HRun=0;HaplotypeScore=2.9808;MQ=59.61;MQ0=0;MQRankSum=-1.369;QD=12.10;ReadPosRankSum=0.928;VQSLOD=4.7346;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,75:166:99:2038,0,2412 1 220197625 220197625 G T exonic EPRS nonsynonymous SNV EPRS:NM_004446:exon8:c.C924A:p.D308E 0.9 0.99 0.87 0.94 0.79 0.86 0.8450 0.9683 0.9226 0.9329 0.8120 0.8041 0.8211 0.8458 0.86 0.96 0.81 0.91 0.78 rs2230301 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.843 N 1.000 0.182 P -0.695 0.019 N 2.05 0.207 T 1.23 0.010 N 0.048 0.029 -0.988 0.331 T 0.000 0.000 T . . . -0.407 0.061 0.372 0.213 0.008 0.234 0.219 N c -1.262 -1.105 0.000 0.048 0.732 0.924 0 -1.6 0.079 0.344 0.196 0.114 0.208 0.996 0.391 0.993 0.574 7.245 0.251 Glutamyl/glutaminyl-tRNA synthetase\x2c class Ib\x2c catalytic domain . . 0.8416 0.9707 0.9105 0.7418 0.9344 0.8174 0.8055 0.8303 0.8371 0.8664 0.9683 0.9010 0.7185 0.9353 0.8185 0.8145 0.8248 het 696.16 70 1 220197625 . G T 696.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.534;DP=70;Dels=0.00;FS=2.331;HRun=1;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;MQRankSum=-0.181;QD=9.95;ReadPosRankSum=0.109;VQSLOD=6.5520;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,27:70:99:726,0,1185 1 220330672 220330672 C T exonic RAB3GAP2 synonymous SNV RAB3GAP2:NM_012414:exon31:c.G3495A:p.L1165L 0.06 0.0076 0.052 0.05 0.088 0.12 0.0876 0.0174 0.0448 0.0575 0.0753 0.0996 0.0980 0.1334 0.069 0.022 0.094 0.076 0.11 rs11547779 COSM3750881 1(large_intestine) other|Likely benign|Likely benign not_specified|Warburg_micro_syndrome|Martsolf_syndrome RCV000118107.3|RCV000276331.1|RCV000331360.1 MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet CN169374|CN158709:ORPHA2510|C0796037:212720:ORPHA1387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0867 0.0150 0.0476 0.1430 0.0573 0.0780 0.0970 0.0801 0.1336 0.0694 0.0146 0.0443 0.1589 0.0545 0.0770 0.0991 0.0949 het 1195.72 98 1 220330672 . C T 1195.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.029;DP=98;Dels=0.00;FS=0.871;HRun=0;HaplotypeScore=2.8922;MQ=58.76;MQ0=0;MQRankSum=0.345;QD=12.20;ReadPosRankSum=-1.740;VQSLOD=5.9621;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,46:98:99:1226,0,1553 1 220331205 220331205 C G exonic RAB3GAP2 nonsynonymous SNV RAB3GAP2:NM_012414:exon30:c.G3275C:p.S1092T 0.06 0.0076 0.052 0.049 0.088 0.12 0.0895 0.0179 0.0439 0.0584 0.0770 0.1018 0.1 0.1380 0.069 0.022 0.094 0.076 0.09 rs2289189 COSM3750882 1(large_intestine) other|Likely benign|Likely benign not_specified|Martsolf_syndrome|Warburg_micro_syndrome RCV000118106.3|RCV000318653.1|RCV000373355.1 MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet CN169374|C0796037:212720:ORPHA1387|CN158709:ORPHA2510 . . . . . . 0.138 0.258 T 0.989 0.609 D 0.856 0.592 P 0.000 0.843 D 0.000 0.548 P 2.455 0.715 M 1.13 0.386 T -1.9 0.443 N 0.189 0.231 -1.156 0.009 T 0.012 0.046 T . . . 5.711 0.779 26.8 0.995 0.696 0.994 0.957 D c 0.711 0.728 1.000 0.747 0.757 0.989 0 5.59 0.846 7.356 0.785 0.876 0.383 1.000 0.715 0.998 0.697 19.589 0.955 Rab3GAP regulatory subunit\x2c C-terminal . . 0.0860 0.0150 0.0453 0.1426 0.0572 0.0781 0.0963 0.0800 0.1334 0.0693 0.0146 0.0443 0.1589 0.0532 0.0770 0.0990 0.0949 het 526.18 38 1 220331205 . C G 526.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.155;DP=38;Dels=0.00;FS=2.826;HRun=0;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;MQRankSum=2.061;QD=13.85;ReadPosRankSum=0.629;VQSLOD=5.1612;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,20:38:99:556,0,498 1 220970028 220970028 A G exonic MARC1 nonsynonymous SNV MARC1:NM_022746:exon3:c.A493G:p.T165A 0.81 0.95 0.78 0.77 0.72 0.78 0.7542 0.9231 0.8378 0.7948 0.7153 0.7076 0.7334 0.7731 0.78 0.92 0.7 0.77 0.75 rs2642438 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.001 0.439 N 1 0.090 P -2.575 0.000 N 1.97 0.221 T 2.42 0.003 N 0.344 0.405 -0.972 0.369 T 0.000 0.000 T . . . -0.771 0.042 0.050 0.235 0.010 0.035 0.085 N c -1.250 -1.067 0.727 0.230 0.744 0.983 0 3.91 0.442 3.907 0.558 0.138 0.222 0.695 0.283 0.005 0.090 10.917 0.462 MOSC\x2c N-terminal beta barrel . . 0.7518 0.9248 0.8291 0.6782 0.7931 0.7152 0.7080 0.7319 0.7741 0.7705 0.9207 0.8094 0.7033 0.7972 0.7068 0.6977 0.7173 hom 1914.62 69 1 220970028 . A G 1914.62 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.67;MQ0=0;QD=27.75;VQSLOD=7.3806;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:1948,162,0 1 221053545 221053545 T C exonic HLX nonsynonymous SNV HLX:NM_021958:exon1:c.T346C:p.S116P 0.21 0.17 0.28 0.23 0.25 0.16 0.2416 0.1915 0.3433 0.2280 0.3224 0.2358 0.2362 0.2000 0.21 0.19 0.22 0.15 0.15 rs12141189 COSM425363 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.086 0.326 T 0.048 0.207 B 0.023 0.188 B 0.001 0.389 N 0.179 0.348 P 1.5 0.380 L 1.36 0.344 T -1.26 0.318 N 0.067 0.054 -0.957 0.397 T 0.000 0.000 T . . . 2.388 0.348 18.74 0.998 0.846 0.507 0.285 D c -0.478 -0.315 1.000 0.747 0.496 0.176 0 3.44 0.383 1.019 0.294 1.061 0.807 0.951 0.329 0.980 0.490 7.655 0.274 . ENSG00000238078.1|ENSG00000221571.2|ENSG00000272823.1|ENSG00000238078.1|ENSG00000257551.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Muscle_Skeletal 0.2445 0.1880 0.3271 0.1747 0.2283 0.3057 0.2371 0.2198 0.2001 0.2356 0.1915 0.2943 0.2020 0.2463 0.3046 0.2389 0.2724 het 508.56 42 1 221053545 . T C 508.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.226;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7218;MQ=60.00;MQ0=0;MQRankSum=0.730;QD=12.11;ReadPosRankSum=-1.409;VQSLOD=5.5036;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,21:42:99:539,0,566 1 221057646 221057646 C T exonic HLX nonsynonymous SNV HLX:NM_021958:exon4:c.C1067T:p.P356L 0.3 0.47 0.29 0.095 0.34 0.24 0.3164 0.4431 0.2645 0.0658 0.3615 0.3484 0.3472 0.2572 0.38 0.43 0.35 0.45 0.34 rs2738755 COSM3746803 1(liver);1(skin);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.007 0.599 D 0.069 0.223 B 0.007 0.121 B 0.628 0.107 N 1.000 0.090 P 1.67 0.430 L -0.21 0.663 T -0.84 0.229 N 0.004 0.137 -0.965 0.383 T 0.000 0.000 T . . . 2.654 0.380 20.5 0.975 0.338 0.597 0.307 D c -0.913 -0.946 0.998 0.358 0.672 0.522 0 2.02 0.255 0.613 0.238 0.920 0.431 0.000 0.063 0.001 0.043 7.008 0.239 . ENSG00000238078.1|ENSG00000272823.1|ENSG00000238078.1|ENSG00000272823.1|ENSG00000238078.1|ENSG00000238078.1|ENSG00000257551.1|ENSG00000272823.1|ENSG00000238078.1|ENSG00000272823.1|ENSG00000238078.1|ENSG00000272823.1|ENSG00000272823.1|ENSG00000238078.1|ENSG00000272823.1|ENSG00000238078.1|ENSG00000238078.1|ENSG00000272823.1|ENSG00000238078.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Thyroid 0.3123 0.4431 0.2717 0.4501 0.0574 0.3607 0.3393 0.3430 0.2539 0.3561 0.4448 0.3074 0.4161 0.0525 0.3613 0.3394 0.3316 het 406.06 36 1 221057646 . C T 406.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.995;DP=36;Dels=0.00;FS=3.012;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.353;QD=11.28;ReadPosRankSum=0.385;VQSLOD=6.4782;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,15:36:99:436,0,557 1 221057662 221057662 G A exonic HLX synonymous SNV HLX:NM_021958:exon4:c.G1083A:p.E361E 0.19 0.26 0.18 0.094 0.18 0.2 0.1851 0.2425 0.1494 0.0651 0.2459 0.1905 0.1862 0.1923 0.21 0.23 0.2 0.29 0.16 rs3738182 COSM3746804 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1833 0.2381 0.1560 0.2271 0.0572 0.2477 0.1861 0.1679 0.1894 0.2048 0.2360 0.1766 0.21 0.0525 0.2504 0.1939 0.2065 het 376.83 35 1 221057662 . G A 376.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.450;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.34;MQ0=0;MQRankSum=0.850;QD=10.77;ReadPosRankSum=-0.117;VQSLOD=6.4834;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,15:35:99:407,0,558 1 221912361 221912361 T C exonic DUSP10 synonymous SNV DUSP10:NM_007207:exon2:c.A726G:p.E242E 0.72 0.83 0.68 0.67 0.64 0.73 0.6737 0.8266 0.6793 0.6839 0.5901 0.6500 0.6487 0.6985 0.71 0.82 0.65 0.72 0.61 rs1141714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6706 0.8276 0.6745 0.6466 0.6858 0.5836 0.6576 0.6484 0.7015 0.6905 0.8289 0.6591 0.63 0.6922 0.5788 0.6418 0.6452 hom 4492.41 135 1 221912361 . T C 4492.41 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2011;MQ=58.61;MQ0=0;QD=33.28;VQSLOD=7.4068;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4492,358,0 1 221912808 221912808 T C exonic DUSP10 synonymous SNV DUSP10:NM_007207:exon2:c.A279G:p.Q93Q 0.34 0.096 0.42 0.45 0.38 0.48 0.3899 0.1372 0.3794 0.4721 0.3239 0.4113 0.4027 0.4527 0.32 0.14 0.41 0.32 0.34 rs1136448 COSM3750892 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3921 0.1329 0.3777 0.4122 0.4697 0.3173 0.4159 0.3860 0.4558 0.3243 0.1433 0.3971 0.4205 0.4727 0.3147 0.4068 0.3735 het 742.59 88 1 221912808 . T C 742.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.690;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.1423;MQ=60.00;MQ0=0;MQRankSum=0.807;QD=8.44;ReadPosRankSum=0.167;VQSLOD=2.7988;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,35:88:99:773,0,1392 1 222713501 222713501 C A exonic HHIPL2 nonsynonymous SNV HHIPL2:NM_024746:exon4:c.G1301T:p.R434L 0.086 0.16 0.078 0.045 0.093 0.024 0.0699 0.1533 0.0332 0.0472 0.0587 0.0793 0.0474 0.0226 0.11 0.15 0.083 0.043 0.057 rs3748663 COSM4143368 1(thyroid) . . . . . . . . . . . 0.103 0.301 T 0.173 0.271 B 0.231 0.366 B 0.833 0.091 N 1 0.090 P 1.525 0.387 L 2.5 0.144 T -3.15 0.641 D 0.113 0.123 -0.936 0.433 T 0.000 0.001 T . . . 0.625 0.154 8.325 0.915 0.201 0.072 0.130 N c -1.411 -1.519 0.178 0.178 0.554 0.246 0 -5.87 0.021 -0.665 0.053 -2.733 0.002 0.000 0.063 0.160 0.208 9.509 0.380 Glucose/Sorbosone dehydrogenase|Six-bladed beta-propeller\x2c TolB-like|Soluble quinoprotein glucose/sorbosone dehydrogenase ENSG00000143512.8 Thyroid 0.0677 0.1570 0.0382 0.0660 0.0483 0.0581 0.0818 0.0667 0.0228 0.0911 0.1462 0.0573 0.0430 0.0425 0.0612 0.0756 0.0682 het 1919.15 132 1 222713501 . C A 1919.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.788;DP=132;Dels=0.00;FS=1.456;HRun=0;HaplotypeScore=3.6019;MQ=59.48;MQ0=0;MQRankSum=1.712;QD=14.54;ReadPosRankSum=0.065;VQSLOD=5.6632;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,75:132:99:1949,0,1373 1 222713621 222713621 C T exonic HHIPL2 nonsynonymous SNV HHIPL2:NM_024746:exon4:c.G1181A:p.R394Q 0.086 0.16 0.078 0.045 0.092 0.024 0.0691 0.1508 0.0332 0.0472 0.0526 0.0788 0.0474 0.0226 0.1 0.14 0.083 0.043 0.057 rs3748665 . . . . . . . . . . . . . 0.573 0.061 T 0.064 0.220 B 0.015 0.162 B 0.073 0.213 N 0.933 0.270 P 0.47 0.131 N 2.7 0.122 T 0.18 0.050 N 0.039 0.019 -0.941 0.425 T 0.000 0.000 T . . . 2.140 0.318 17.12 0.904 0.190 0.126 0.172 N c -1.030 -0.984 0.189 0.180 0.487 0.133 0 1.79 0.239 0.085 0.146 0.892 0.403 0.006 0.172 0.824 0.344 4.863 0.129 Glucose/Sorbosone dehydrogenase|Six-bladed beta-propeller\x2c TolB-like|Soluble quinoprotein glucose/sorbosone dehydrogenase ENSG00000143512.8 Thyroid 0.0669 0.1544 0.0382 0.0660 0.0480 0.0528 0.0816 0.0649 0.0228 0.0898 0.1442 0.0573 0.0430 0.0425 0.0567 0.0754 0.0662 het 1621.33 146 1 222713621 . C T 1621.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.320;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6593;MQ=59.43;MQ0=0;MQRankSum=0.499;QD=11.11;ReadPosRankSum=0.000;VQSLOD=4.5579;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:79,67:146:99:1651,0,2029 1 222802006 222802006 A G exonic MIA3 nonsynonymous SNV MIA3:NM_001324062:exon4:c.A1444G:p.K482E,MIA3:NM_001324063:exon4:c.A1444G:p.K482E,MIA3:NM_198551:exon4:c.A1444G:p.K482E,MIA3:NM_001324064:exon5:c.A952G:p.K318E 1. 0.98 1. 1. 1. 1. 0.9983 0.9800 0.9996 1 1 1.0000 0.9989 1 0.99 0.98 1. 1. 0.74 rs2936053 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.33 0.001 N 1.03 0.405 T 1.85 0.005 N 0.004 0.244 -0.991 0.325 T 0.000 0.000 T . . . -0.559 0.052 0.157 0.221 0.009 0.004 0.021 N c -1.553 -1.424 0.061 0.152 0.732 0.924 0 1.63 0.228 1.277 0.326 0.104 0.200 0.002 0.151 0.003 0.074 6.831 0.229 . . . 0.9987 0.9806 0.9993 1 1 1 1.0000 0.9995 0.9999 0.9943 0.9801 1 1 1 1 0.9999 0.9990 hom 7887.21 232 1 222802006 . A G 7887.21 Mask AC=2;AF=1.00;AN=2;DP=232;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6900;MQ=59.82;MQ0=0;QD=34.00;VQSLOD=8.5114;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,232:232:99:7887,608,0 1 222802803 222802803 T G exonic MIA3 synonymous SNV MIA3:NM_001324062:exon4:c.T2241G:p.P747P,MIA3:NM_001324063:exon4:c.T2241G:p.P747P,MIA3:NM_198551:exon4:c.T2241G:p.P747P,MIA3:NM_001324064:exon5:c.T1749G:p.P583P 0.51 0.25 0.51 0.58 0.73 0.55 0.6337 0.2961 0.4635 0.5816 0.7461 0.7142 0.6804 0.6059 0.59 0.31 0.71 0.52 0.67 rs3748626 COSM146781 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6336 0.2937 0.4767 0.7117 0.5773 0.7421 0.7144 0.6418 0.6085 0.5893 0.3062 0.5191 0.7053 0.6073 0.7282 0.7151 0.6861 het 917.90 71 1 222802803 . T G 917.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.582;DP=71;Dels=0.00;FS=4.702;HRun=3;HaplotypeScore=1.8857;MQ=60.00;MQ0=0;MQRankSum=-0.178;QD=12.93;ReadPosRankSum=-0.443;VQSLOD=5.6723;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,36:71:99:948,0,1012 1 222802926 222802926 C T exonic MIA3 synonymous SNV MIA3:NM_001324062:exon4:c.C2364T:p.S788S,MIA3:NM_001324063:exon4:c.C2364T:p.S788S,MIA3:NM_198551:exon4:c.C2364T:p.S788S,MIA3:NM_001324064:exon5:c.C1872T:p.S624S 0.8 0.57 0.9 0.89 0.9 0.85 0.8685 0.5962 0.9432 0.8872 0.9253 0.8912 0.9118 0.8503 0.8 0.61 0.88 0.74 0.88 rs3008620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8757 0.5920 0.9421 0.8970 0.8833 0.9255 0.8872 0.8888 0.8522 0.8100 0.6030 0.9260 0.9040 0.8673 0.9253 0.8840 0.8806 het 543.16 78 1 222802926 . C T 543.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.438;DP=78;Dels=0.00;FS=3.408;HRun=0;HaplotypeScore=2.4947;MQ=59.44;MQ0=0;MQRankSum=0.525;QD=6.96;ReadPosRankSum=0.244;VQSLOD=5.2618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,24:78:99:573,0,1387 1 222833538 222833538 C G exonic MIA3 synonymous SNV MIA3:NM_001300867:exon19:c.C1629G:p.G543G,MIA3:NM_001324065:exon19:c.C1629G:p.G543G,MIA3:NM_001324063:exon22:c.C4818G:p.G1606G,MIA3:NM_001324062:exon24:c.C4995G:p.G1665G,MIA3:NM_198551:exon24:c.C4995G:p.G1665G,MIA3:NM_001324064:exon25:c.C4503G:p.G1501G 0.13 0.087 0.13 0.16 0.2 0.069 0.1544 0.0924 0.0900 0.1448 0.1403 0.1954 0.1759 0.0798 0.16 0.087 0.19 0.13 0.21 rs2291835 COSM146783 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1555 0.0919 0.1057 0.2496 0.1442 0.1461 0.1933 0.1808 0.0817 0.1572 0.0979 0.1396 0.2550 0.1399 0.1509 0.1941 0.1571 het 740.88 55 1 222833538 . C G 740.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.313;DP=55;Dels=0.00;FS=1.079;HRun=2;HaplotypeScore=0.0000;MQ=58.32;MQ0=0;MQRankSum=0.803;QD=13.47;ReadPosRankSum=0.025;VQSLOD=5.2940;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,30:55:99:771,0,695 1 222833601 222833601 T C exonic MIA3 synonymous SNV MIA3:NM_001300867:exon19:c.T1692C:p.P564P,MIA3:NM_001324065:exon19:c.T1692C:p.P564P,MIA3:NM_001324063:exon22:c.T4881C:p.P1627P,MIA3:NM_001324062:exon24:c.T5058C:p.P1686P,MIA3:NM_198551:exon24:c.T5058C:p.P1686P,MIA3:NM_001324064:exon25:c.T4566C:p.P1522P 0.99 0.98 1. 1. 1. 1. 0.9982 0.9799 0.9995 1 1 0.9998 0.9989 1 0.99 0.98 1. 1. 1. rs3002153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9986 0.9803 0.9993 1 1 1.0000 0.9998 0.9995 0.9999 0.9941 0.9796 1 1 1 1 0.9997 0.9990 hom 1662.38 57 1 222833601 . T C 1662.38 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.0999;MQ=58.36;MQ0=0;QD=29.16;VQSLOD=8.1223;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,56:57:99:1695,138,0 1 222919895 222919895 T G exonic FAM177B nonsynonymous SNV FAM177B:NM_001324080:exon2:c.T8G:p.I3S,FAM177B:NM_207468:exon3:c.T8G:p.I3S 0.59 0.24 0.74 0.77 0.7 0.66 0.6738 0.2887 0.7992 0.7725 0.7365 0.6882 0.7162 0.6903 0.55 0.3 0.68 0.55 0.7 rs2378607 . . . . . . . . . . . . . 0.088 0.335 T 0.006 0.126 B 0.007 0.121 B 0.036 0.246 N 1.000 0.210 P 0 0.065 N 0.89 0.460 T 1.53 0.009 N 0.05 0.335 -1.007 0.279 T 0.000 0.000 T . . . 0.673 0.158 8.652 0.895 0.183 0.343 0.248 N c -0.772 -0.612 0.000 0.035 0.487 0.133 0 2.3 0.276 1.356 0.335 0.075 0.182 1.000 0.715 0.513 0.273 3.742 0.080 . ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000186063.8|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000154305.12|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000197520.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.6854 0.2793 0.7948 0.6605 0.7649 0.7317 0.6901 0.6824 0.6840 0.5872 0.2889 0.7601 0.6391 0.7738 0.7231 0.6903 0.7057 het 576.44 61 1 222919895 . T G 576.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.725;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.18;MQ0=0;MQRankSum=-1.429;QD=9.45;ReadPosRankSum=-0.441;VQSLOD=5.6534;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,23:61:99:606,0,1001 1 222923351 222923351 A G exonic FAM177B nonsynonymous SNV FAM177B:NM_001324080:exon5:c.A428G:p.Q143R,FAM177B:NM_207468:exon6:c.A428G:p.Q143R 0.79 0.75 0.85 0.8 0.83 0.76 0.8032 0.7654 0.8574 0.7926 0.8039 0.8078 0.7895 0.7752 0.8 0.77 0.81 0.85 0.84 rs6683071 COSM146785 1(stomach);3(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.66 0.021 N 1.53 0.304 T 0.25 0.045 N 0.012 0.001 -1.027 0.215 T 0.000 0.000 T . . . -2.711 0.002 0.001 0.617 0.066 0.005 0.023 N c -2.387 -2.466 1.000 0.747 0.534 0.214 0 -11.0 0.001 -2.368 0.011 -1.982 0.005 0.000 0.063 0.031 0.148 2.280 0.038 . ENSG00000186063.8|ENSG00000272750.1 Esophagus_Muscularis|Esophagus_Muscularis 0.8054 0.7631 0.8567 0.7270 0.7856 0.7999 0.8166 0.7791 0.7745 0.7997 0.7708 0.8532 0.7067 0.7942 0.7895 0.8173 0.8163 hom 2567.33 91 1 222923351 . A G 2567.33 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4905;MQ=59.24;MQ0=0;QD=28.21;VQSLOD=7.5684;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:91:99:2600,217,0 1 223176275 223176275 G A exonic DISP1 synonymous SNV DISP1:NM_001350630:exon9:c.G807A:p.V269V,DISP1:NM_032890:exon10:c.G1536A:p.V512V 0.057 0.012 0.069 . 0.14 0.085 0.1053 0.0329 0.0523 0.0001 0.1342 0.1389 0.1377 0.0939 0.11 0.04 0.15 0.054 0.15 rs61738819 COSM3750899 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1056 0.0301 0.0554 0.1227 0.0002 0.1318 0.1428 0.1116 0.0967 0.0999 0.0305 0.0622 0.1291 0.0006 0.1375 0.1425 0.1191 het 2662.95 233 1 223176275 . G A 2662.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.536;DP=233;Dels=0.00;FS=1.591;HRun=1;HaplotypeScore=3.8538;MQ=59.27;MQ0=0;MQRankSum=0.059;QD=11.43;ReadPosRankSum=-0.330;VQSLOD=5.9751;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:125,108:233:99:2693,0,3390 1 223178478 223178478 G A exonic DISP1 nonsynonymous SNV DISP1:NM_001350630:exon9:c.G3010A:p.A1004T,DISP1:NM_032890:exon10:c.G3739A:p.A1247T 0.07 0.015 0.094 . 0.18 0.082 0.1264 0.0388 0.0655 0.0001 0.1712 0.1705 0.1542 0.0923 0.14 0.047 0.18 0.087 0.17 rs9441940 COSM3750900 4(soft_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.506 0.076 T 0.0 0.026 B 0.0 0.013 B 0.174 0.031 N 1 0.090 P -0.895 0.014 N -2.88 0.915 D 0.47 0.031 N 0.0 0.000 -0.903 0.477 T 0.001 0.004 T . . . -2.346 0.004 0.001 0.517 0.045 0.012 0.041 N c -2.847 -2.938 1.0 0.983 0.651 0.465 0 -11.0 0.001 -3.766 0.004 -3.900 0.001 0.000 0.063 0.000 0.016 2.856 0.052 . . . 0.1273 0.0368 0.0752 0.1410 0.0002 0.1674 0.1742 0.1364 0.0953 0.1244 0.0374 0.0871 0.14 0.0012 0.1690 0.1778 0.1538 het 2878.29 249 1 223178478 . G A 2878.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.804;DP=249;DS;Dels=0.00;FS=2.499;HRun=0;HaplotypeScore=5.1176;MQ=58.73;MQ0=0;MQRankSum=-1.377;QD=11.56;ReadPosRankSum=0.563;VQSLOD=4.3549;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:140,109:249:99:2908,0,3612 1 223178561 223178561 A C exonic DISP1 synonymous SNV DISP1:NM_001350630:exon9:c.A3093C:p.P1031P,DISP1:NM_032890:exon10:c.A3822C:p.P1274P 0.5 0.42 0.53 0.48 0.62 0.48 0.5453 0.4482 0.5308 0.5169 0.5942 0.5783 0.5628 0.4775 0.53 0.45 0.58 0.41 0.57 rs9441941 COSM146786 1(stomach);1(thyroid) Benign not_specified RCV000249331.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5468 0.4484 0.5371 0.5563 0.5141 0.5954 0.5765 0.5657 0.4764 0.5450 0.4544 0.5263 0.5662 0.4907 0.6066 0.5908 0.5296 hom 7762.69 241 1 223178561 . A C 7762.69 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9159;MQ=58.58;MQ0=0;QD=32.21;VQSLOD=8.8212;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:7761,659,0 1 223178954 223178954 G A exonic DISP1 synonymous SNV DISP1:NM_001350630:exon9:c.G3486A:p.T1162T,DISP1:NM_032890:exon10:c.G4215A:p.T1405T 0.0058 . 0.0086 . 0.022 0.001 0.0141 0.0044 0.0053 0.0006 0.0121 0.0221 0.0187 0.0019 0.017 0.0043 0.023 0.011 0.025 rs61740997 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0144 0.0039 0.0075 0.0194 0.0003 0.0126 0.0234 0.0153 0.0018 0.0142 0.0049 0.0133 0.0136 0 0.0155 0.0206 0.0145 het 1705.23 139 1 223178954 . G A 1705.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.321;DP=139;Dels=0.00;FS=0.639;HRun=0;HaplotypeScore=1.6006;MQ=59.40;MQ0=0;MQRankSum=-0.044;QD=12.27;ReadPosRankSum=0.943;VQSLOD=5.9910;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,65:139:99:1735,0,1916 1 223283910 223283910 A G exonic TLR5 nonsynonymous SNV TLR5:NM_003268:exon6:c.T2464C:p.F822L 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 . . . 1. 0.98 rs7512943 COSM4591762 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 2315.57 67 1 223283910 . A G 2315.57 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8606;MQ=58.89;MQ0=0;QD=34.56;VQSLOD=8.7499;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2349,187,0 1 223567267 223567267 C T exonic CCDC185 synonymous SNV CCDC185:NM_152610:exon1:c.C450T:p.P150P 0.087 0.11 0.068 0.13 0.04 0.08 0.0783 0.1305 0.1562 0.1343 0.0447 0.0498 0.0857 0.0867 0.06 0.1 0.037 0.033 0.057 rs6679661 COSM3750902 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0691 0.1092 0.1338 0.0290 0.1279 0.0374 0.0424 0.0599 0.0791 0.0651 0.1019 0.1169 0.0397 0.1177 0.0381 0.0426 0.0531 het 254.51 23 1 223567267 . C T 254.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.543;DP=23;Dels=0.00;FS=1.918;HRun=0;HaplotypeScore=1.7791;MQ=60.00;MQ0=0;MQRankSum=-0.661;QD=11.07;ReadPosRankSum=1.480;VQSLOD=6.0496;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,9:23:99:285,0,395 1 223567401 223567401 T C exonic CCDC185 nonsynonymous SNV CCDC185:NM_152610:exon1:c.T584C:p.V195A 0.081 0.083 0.063 0.13 0.041 0.08 0.0660 0.0791 0.1409 0.1232 0.0367 0.0429 0.0713 0.0793 0.053 0.082 0.038 0.033 0.057 rs6689850 COSM3750903 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.18 0.219 T 0.02 0.170 B 0.013 0.154 B . . . 1 0.090 P 1.1 0.281 L 1.94 0.227 T -0.32 0.123 N 0.067 0.054 -0.992 0.321 T 0.001 0.002 T . . . -0.047 0.089 2.155 0.727 0.097 0.011 0.041 N c -1.008 -1.105 0.108 0.166 0.598 0.340 0 -1.26 0.088 -0.798 0.046 0.964 0.580 0.000 0.063 0.012 0.117 0.846 0.011 . . . 0.0676 0.0812 0.1345 0.0287 0.1290 0.0369 0.0429 0.0580 0.0797 0.0575 0.0765 0.1169 0.0397 0.1157 0.0372 0.0424 0.0512 het 1620.06 171 1 223567401 . T C 1620.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.453;DP=171;Dels=0.00;FS=4.779;HRun=0;HaplotypeScore=2.9900;MQ=59.07;MQ0=0;MQRankSum=1.071;QD=9.47;ReadPosRankSum=-1.414;VQSLOD=5.1598;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:106,65:171:99:1650,0,2709 1 223567531 223567531 G A exonic CCDC185 synonymous SNV CCDC185:NM_152610:exon1:c.G714A:p.P238P 0.081 0.083 0.063 0.13 0.041 0.08 0.0663 0.0799 0.1407 0.1237 0.0368 0.0431 0.0729 0.0795 0.053 0.082 0.038 0.043 0.074 rs2298063 COSM4415905 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0676 0.0814 0.1342 0.0288 0.1290 0.0369 0.0429 0.0583 0.0798 0.0576 0.0760 0.1169 0.0397 0.1184 0.0372 0.0425 0.0520 het 1122.33 92 1 223567531 . G A 1122.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.249;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=-0.623;QD=12.20;ReadPosRankSum=1.360;VQSLOD=5.8800;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,42:92:99:1152,0,1446 1 223900408 223900408 C G exonic CAPN2 nonsynonymous SNV CAPN2:NM_001748:exon1:c.C66G:p.D22E 0.99 0.95 1. 1. 1. 1. 0.9959 0.9546 0.9983 1 1 0.9998 0.9969 0.9996 0.98 0.95 1. . 0.79 rs25655 COSM4143383 4(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.869 0.088 N 1 0.258 P -0.885 0.014 N -4.24 0.970 D 0.96 0.015 N 0.009 0.024 -0.952 0.406 T 0.000 0.000 T . . . 0.573 0.149 7.967 0.783 0.118 0.009 0.034 N c -1.292 -1.163 1.000 0.747 0.726 0.872 0 2.09 0.260 0.317 0.191 -0.011 0.132 0.000 0.063 0.398 0.254 9.821 0.399 . . . 0.9972 0.9539 0.9982 0.9997 1 1 0.9999 0.9973 0.9995 0.9873 0.9557 1 1 1 1 0.9999 0.9968 hom 484.29 17 1 223900408 . C G 484.29 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.2434;MQ=60.00;MQ0=0;QD=28.49;VQSLOD=6.8392;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:39.13:517,39,0 1 223905532 223905532 G A exonic CAPN2 synonymous SNV CAPN2:NM_001146068:exon2:c.G72A:p.L24L,CAPN2:NM_001748:exon2:c.G306A:p.L102L 0.6 0.35 0.64 0.58 0.76 0.74 0.7173 0.4223 0.6255 0.5570 0.8457 0.7810 0.7478 0.7401 0.66 0.44 0.78 0.58 0.75 rs17596 COSM146789 1(breast);1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7204 0.4131 0.6390 0.6964 0.5639 0.8458 0.7825 0.7187 0.7415 0.6748 0.4278 0.6463 0.6921 0.5390 0.8403 0.7904 0.7576 hom 1791.79 60 1 223905532 . G A 1791.79 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=29.86;VQSLOD=9.2994;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1825,138,0 1 223934720 223934720 G A exonic CAPN2 synonymous SNV CAPN2:NM_001146068:exon5:c.G348A:p.A116A,CAPN2:NM_001748:exon5:c.G582A:p.A194A 0.68 0.29 0.72 0.71 0.9 0.93 0.8303 0.3798 0.7202 0.6789 0.9099 0.9062 0.8678 0.9302 0.74 0.4 0.91 0.6 0.86 rs17600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8354 0.3697 0.7354 0.8869 0.6833 0.9124 0.9065 0.8517 0.9286 0.7461 0.3859 0.7649 0.8808 0.6658 0.9132 0.9123 0.8763 hom 5037.70 162 1 223934720 . G A 5037.70 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5914;MQ=59.65;MQ0=0;QD=31.10;VQSLOD=8.3671;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:162:99:5037,409,0 1 223954080 223954080 A C exonic CAPN2 nonsynonymous SNV CAPN2:NM_001146068:exon16:c.A1468C:p.K490Q,CAPN2:NM_001748:exon16:c.A1702C:p.K568Q 0.21 0.098 0.25 0.27 0.24 0.22 0.2276 0.1216 0.2012 0.2448 0.2828 0.2481 0.2163 0.1997 0.2 0.13 0.24 0.13 0.23 rs17599 COSM146791 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas);2(prostate);1(thymus) . . . . . . . . . . . 0.037 0.430 D 0.007 0.174 B 0.032 0.277 B 0.000 0.629 D 0.000 0.588 P 2.885 0.838 M 1.43 0.330 T -2.98 0.620 D 0.141 0.165 -1.077 0.079 T 0.000 0.000 T . . . 5.820 0.797 27.2 0.991 0.508 0.987 0.858 D c 0.198 0.335 1.000 0.747 0.632 0.406 0 5.47 0.803 7.147 0.768 1.199 0.960 1.000 0.715 1.000 0.888 15.547 0.757 EF-hand domain|EF-hand domain pair;Peptidase C2\x2c calpain\x2c domain III|Peptidase C2\x2c calpain\x2c large subunit\x2c domain III ENSG00000272645.1|ENSG00000243000.1|ENSG00000185495.6|ENSG00000272645.1 Lung|Nerve_Tibial|Nerve_Tibial|Whole_Blood 0.2280 0.1207 0.2107 0.1613 0.2474 0.2857 0.2479 0.2278 0.1964 0.2189 0.1233 0.2117 0.1623 0.2485 0.2776 0.2574 0.2464 het 1266.31 102 1 223954080 . A C 1266.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.850;DP=102;Dels=0.00;FS=0.751;HRun=1;HaplotypeScore=1.9937;MQ=59.14;MQ0=0;MQRankSum=-0.003;QD=12.41;ReadPosRankSum=0.787;VQSLOD=6.7423;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,52:102:99:1296,0,1350 1 224482084 224482084 C T exonic NVL nonsynonymous SNV NVL:NM_001243146:exon10:c.G643A:p.V215I,NVL:NM_001243147:exon11:c.G937A:p.V313I,NVL:NM_206840:exon11:c.G892A:p.V298I,NVL:NM_002533:exon12:c.G1210A:p.V404I 0.017 0.0015 0.019 . 0.043 0.027 0.0334 0.0068 0.0175 0.0002 0.0343 0.0456 0.0353 0.0286 0.033 0.0086 0.045 0.022 0.11 rs34631151 . . . . . . . . . . . . . 0.028 0.461 D 0.993 0.715 D 0.923 0.672 D 0.000 0.843 D 1 0.810 D 1.085 0.274 L -3.41 0.943 D -0.97 0.260 N 0.098 0.249 0.220 0.863 D 0.514 0.818 D . . . 6.415 0.885 29.7 0.999 0.963 0.978 0.769 D c 0.503 0.516 1.000 0.500 0.707 0.730 0 4.74 0.596 6.071 0.707 0.892 0.403 1.000 0.715 0.997 0.653 14.878 0.700 AAA+ ATPase domain|ATPase\x2c AAA-type\x2c conserved site|ATPase\x2c AAA-type\x2c core|P-loop containing nucleoside triphosphate hydrolase;AAA+ ATPase domain|ATPase\x2c AAA-type\x2c core|P-loop containing nucleoside triphosphate hydrolase;AAA+ ATPase domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000143771.7 Thyroid 0.0339 0.0061 0.0216 0.0911 0.0001 0.0357 0.0431 0.0346 0.0265 0.0271 0.0071 0.0263 0.0894 0 0.0401 0.0370 0.0336 het 1118.13 81 1 224482084 . C T 1118.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.908;DP=81;Dels=0.00;FS=4.481;HRun=0;HaplotypeScore=1.9780;MQ=58.96;MQ0=0;MQRankSum=1.574;QD=13.80;ReadPosRankSum=0.241;VQSLOD=5.0770;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,42:81:99:1148,0,1021 1 224492746 224492746 C T exonic NVL synonymous SNV NVL:NM_001243146:exon4:c.G90A:p.L30L,NVL:NM_001243147:exon6:c.G465A:p.L155L,NVL:NM_206840:exon6:c.G420A:p.L140L,NVL:NM_002533:exon7:c.G738A:p.L246L 0.82 0.52 0.93 0.89 0.97 0.92 0.9137 0.5795 0.9610 0.8982 0.9760 0.9487 0.9493 0.9311 0.83 0.59 0.94 0.81 0.9 rs3754090 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9216 0.5743 0.9609 0.9328 0.8994 0.9723 0.9462 0.9368 0.9317 0.8446 0.5789 0.9535 0.9272 0.8986 0.9740 0.9488 0.9369 hom 7088.12 243 1 224492746 . C T 7088.12 Mask AC=2;AF=1.00;AN=2;DP=243;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.27;MQ0=0;QD=29.17;VQSLOD=8.7948;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,243:243:99:7087,569,0 1 224495852 224495852 C T exonic NVL synonymous SNV NVL:NM_206840:exon5:c.G138A:p.R46R,NVL:NM_002533:exon6:c.G456A:p.R152R 0.82 0.53 0.93 0.89 0.97 0.92 0.9143 0.5849 0.9611 0.8986 0.9760 0.9488 0.9493 0.9310 0.83 0.6 0.94 0.81 0.9 rs7534447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9221 0.5800 0.9611 0.9328 0.8996 0.9724 0.9463 0.9365 0.9315 0.8458 0.5836 0.9535 0.9272 0.8983 0.9740 0.9488 0.9369 hom 4730.74 161 1 224495852 . C T 4730.74 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=29.38;VQSLOD=9.0448;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:161:99:4730,370,0 1 225607144 225607144 C T exonic LBR nonsynonymous SNV LBR:NM_002296:exon5:c.G461A:p.S154N,LBR:NM_194442:exon5:c.G461A:p.S154N 0.71 0.36 0.86 0.96 0.84 0.69 0.8009 0.4210 0.8750 0.9561 0.8627 0.8453 0.8333 0.6965 0.7 0.44 0.84 0.62 0.72 rs2230419 COSM5000709 1(pancreas) Benign|Benign not_specified|Greenberg_dysplasia RCV000245894.1|RCV000287243.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C1300226:215140:ORPHA1426:389261002 . . . . . . 0.561 0.063 T 0.005 0.156 B 0.007 0.139 B 0.904 0.086 N 1 0.090 P 0 0.065 N -4.17 0.969 D 0.09 0.098 N 0.003 0.031 -1.020 0.237 T 0.000 0.000 T . . . -1.671 0.013 0.002 0.378 0.025 0.010 0.037 N c -2.237 -2.263 1.000 0.446 0.706 0.609 0 -7.95 0.010 -0.167 0.098 -2.161 0.004 0.001 0.137 0.002 0.062 5.073 0.139 . . . 0.8117 0.4159 0.8734 0.8912 0.9582 0.8563 0.8383 0.8465 0.6985 0.7334 0.4191 0.8810 0.8742 0.9548 0.8707 0.8423 0.8354 hom 1866.46 61 1 225607144 . C T 1866.46 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;QD=30.60;VQSLOD=8.5626;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1899,147,0 1 225609884 225609884 A G exonic LBR synonymous SNV LBR:NM_002296:exon3:c.T261C:p.P87P,LBR:NM_194442:exon3:c.T261C:p.P87P 0.67 0.33 0.83 0.9 0.8 0.64 0.7502 0.3824 0.8515 0.8991 0.7785 0.7914 0.7577 0.6550 0.66 0.4 0.79 0.61 0.75 rs1056608 . . Benign|Benign not_specified|Greenberg_dysplasia RCV000250536.1|RCV000373671.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C1300226:215140:ORPHA1426:389261002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7632 0.3824 0.8492 0.8631 0.8981 0.7716 0.7867 0.7879 0.6554 0.683 0.3860 0.8489 0.8311 0.8832 0.7828 0.7929 0.7714 hom 2457.71 71 1 225609884 . A G 2457.71 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.6208;MQ=58.42;MQ0=0;QD=34.62;VQSLOD=9.0145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2491,202,0 1 225611661 225611661 C T exonic LBR synonymous SNV LBR:NM_002296:exon2:c.G117A:p.V39V,LBR:NM_194442:exon2:c.G117A:p.V39V 0.66 0.63 0.78 0.74 0.71 0.47 0.7112 0.6334 0.7876 0.7676 0.7865 0.7419 0.7467 0.5212 0.7 0.64 0.73 0.64 0.76 rs1056607 COSM4422673 1(kidney);1(large_intestine) Benign|Benign not_specified|Greenberg_dysplasia RCV000245794.1|RCV000338935.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C1300226:215140:ORPHA1426:389261002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7178 0.6381 0.7878 0.7490 0.7708 0.7889 0.7352 0.7472 0.5217 0.7261 0.6419 0.7780 0.7053 0.7587 0.7841 0.7530 0.7648 hom 8456.10 250 1 225611661 . C T 8456.10 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=59.00;MQ0=0;QD=33.82;VQSLOD=9.1997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8455,680,0 1 226019500 226019500 T C exonic EPHX1 synonymous SNV EPHX1:NM_000120:exon3:c.T204C:p.D68D,EPHX1:NM_001136018:exon3:c.T204C:p.D68D,EPHX1:NM_001291163:exon3:c.T204C:p.D68D 0.0066 0.0015 0.01 . 0.023 0.001 0.0119 0.0025 0.0051 0 0.0080 0.0185 0.0220 0.0034 0.014 0.0032 0.019 0.011 0.016 rs2234698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0117 0.0027 0.0060 0.0023 0 0.0072 0.0204 0.0120 0.0036 0.0098 0.0033 0.0095 0 0 0.0060 0.0157 0.0092 het 2014.88 180 1 226019500 . T C 2014.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.690;DP=180;Dels=0.00;FS=2.637;HRun=0;HaplotypeScore=4.5974;MQ=59.54;MQ0=0;MQRankSum=0.036;QD=11.19;ReadPosRankSum=-0.028;VQSLOD=5.6400;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,78:180:99:2045,0,2490 1 226026406 226026406 A G exonic EPHX1 nonsynonymous SNV EPHX1:NM_000120:exon4:c.A416G:p.H139R,EPHX1:NM_001136018:exon4:c.A416G:p.H139R,EPHX1:NM_001291163:exon4:c.A416G:p.H139R 0.22 0.35 0.14 0.12 0.16 0.23 0.1963 0.3466 0.0819 0.1284 0.1576 0.1963 0.1916 0.2332 0.25 0.34 0.2 0.18 0.09 rs2234922 COSM3735957 1(haematopoietic_and_lymphoid_tissue);2(skin);1(large_intestine) Benign|drug response EPOXIDE_HYDROLASE_POLYMORPHISM|carbamazepine_response_-_Dosage RCV000018079.3|RCV000211258.1 MedGen CN236494 . . . . . . 1.0 0.020 T 0.0 0.026 B 0.0 0.013 B 0.077 0.211 N 1 0.090 P 0 0.065 N 3.9 0.035 T 0.76 0.020 N 0.025 0.246 -0.956 0.399 T 0.000 0.000 T . . . -1.689 0.013 0.002 0.486 0.040 0.041 0.095 N c -1.313 -1.201 0.412 0.202 0.707 0.730 0 2.55 0.296 0.840 0.271 -0.718 0.036 0.003 0.159 0.001 0.043 7.654 0.274 Alpha/Beta hydrolase fold|Epoxide hydrolase\x2c N-terminal . . 0.1870 0.3479 0.0931 0.1391 0.1273 0.1524 0.2010 0.1782 0.2337 0.2276 0.3376 0.1103 0.1490 0.1242 0.1645 0.2003 0.1867 het 2925.10 246 1 226026406 . A G 2925.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.768;DP=246;Dels=0.00;FS=5.186;HRun=0;HaplotypeScore=13.8106;MQ=59.45;MQ0=0;MQRankSum=1.084;QD=11.89;ReadPosRankSum=-1.310;VQSLOD=2.7835;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,123:246:99:2955,0,3094 1 226032229 226032229 C T exonic EPHX1 synonymous SNV EPHX1:NM_000120:exon8:c.C1071T:p.N357N,EPHX1:NM_001136018:exon8:c.C1071T:p.N357N,EPHX1:NM_001291163:exon8:c.C1071T:p.N357N 0.13 0.11 0.059 0.11 0.089 0.25 0.1119 0.1085 0.0382 0.1244 0.0547 0.1002 0.1123 0.2292 0.11 0.11 0.1 0.054 0.041 rs1051741 COSM146794 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1062 0.1100 0.0432 0.0678 0.1262 0.0539 0.1025 0.0919 0.2278 0.0923 0.1036 0.0549 0.0867 0.1227 0.0561 0.0934 0.0879 het 1567.11 142 1 226032229 . C T 1567.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.815;DP=142;Dels=0.00;FS=3.329;HRun=0;HaplotypeScore=1.7900;MQ=59.64;MQ0=0;MQRankSum=1.557;QD=11.04;ReadPosRankSum=-2.560;VQSLOD=5.1129;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,59:142:99:1597,0,2029 1 226055595 226055595 G A exonic TMEM63A synonymous SNV TMEM63A:NM_014698:exon7:c.C507T:p.D169D 0.43 0.52 0.31 0.52 0.26 0.47 0.3353 0.4634 0.3270 0.5411 0.1801 0.2732 0.3009 0.4673 0.34 0.44 0.29 0.28 0.22 rs2292564 COSM146795 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3272 0.4627 0.3189 0.2424 0.5417 0.1782 0.2789 0.2856 0.4665 0.3407 0.4673 0.3258 0.2417 0.5517 0.1799 0.2884 0.2863 het 1906.19 119 1 226055595 . G A 1906.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.829;DP=119;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9947;MQ=59.61;MQ0=0;MQRankSum=0.656;QD=16.02;ReadPosRankSum=-1.217;VQSLOD=6.5467;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,68:119:99:1936,0,1207 1 226055624 226055624 C T exonic TMEM63A nonsynonymous SNV TMEM63A:NM_014698:exon7:c.G478A:p.V160I 0.0018 0.0008 0.0058 . 0.003 0.001 0.0027 0.0008 0.0021 0 0 0.0040 0.0044 0.0017 0.0034 0.0002 0.005 . 0.016 rs115600896 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.009 0.133 B 0.000 0.469 N 0.967 0.386 D . . . 0.95 0.433 T 0.14 0.054 N 0.052 0.034 -1.049 0.147 T 0.030 0.128 T 0.003 0.056 T 0.879 0.178 9.941 0.139 0.003 0.120 0.168 N c -0.830 -0.658 0.519 0.211 0.707 0.730 0 3.03 0.339 0.000 0.128 0.060 0.166 0.002 0.151 0.880 0.369 9.466 0.378 Calcium permeable stress-gated cation channel 1\x2c N-terminal transmembrane domain . . 0.0030 0.0007 0.0032 0.0035 0 8.969e-05 0.0047 0.0024 0.0019 0.0027 0.0008 0.0048 0 0 0.0003 0.0047 0.0010 het 1221.94 119 1 226055624 . C T 1221.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.834;DP=119;Dels=0.00;FS=0.698;HRun=0;HaplotypeScore=2.8448;MQ=59.42;MQ0=0;MQRankSum=-1.027;QD=10.27;ReadPosRankSum=0.397;VQSLOD=5.4037;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,52:119:99:1252,0,1905 1 226125385 226125385 G A exonic LEFTY2 nonsynonymous SNV LEFTY2:NM_003240:exon4:c.C857T:p.P286L,LEFTY2:NM_001172425:exon5:c.C755T:p.P252L 0.051 0.0008 0.05 0.11 0.031 0.085 0.0424 0.0074 0.0442 0.1008 0.0179 0.0363 0.0308 0.0649 0.026 0.01 0.034 0.011 0.025 rs2295418 . . Benign|Likely benign|Benign not_specified|Heterotaxy_syndrome|Left-right_axis_malformations RCV000126616.2|RCV000347075.1|RCV000467952.1 MedGen|MedGen|MedGen CN169374|C3178805|C1866091 . . . . . . 0.004 0.654 D 1.0 0.899 D 1.0 0.971 D 0.000 0.629 N 0.000 0.504 P 2.67 0.784 M -0.04 0.633 T -4.72 0.825 D 0.098 0.100 -0.636 0.633 T 0.032 0.136 T . . . 3.916 0.527 23.5 0.997 0.781 0.973 0.737 D c 0.423 0.331 0.994 0.333 0.615 0.372 0 4.18 0.483 9.452 0.968 0.974 0.594 1.000 0.715 0.805 0.338 13.559 0.611 Cystine-knot cytokine|Transforming growth factor beta\x2c conserved site|Transforming growth factor-beta\x2c C-terminal;Transforming growth factor-beta\x2c C-terminal . . 0.0406 0.0071 0.0401 0.0181 0.1014 0.0183 0.0358 0.0377 0.0647 0.0288 0.0083 0.0549 0.0166 0.1027 0.0172 0.0338 0.0356 het 531.70 41 1 226125385 . G A 531.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.600;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6103;MQ=57.69;MQ0=0;MQRankSum=-0.190;QD=12.97;ReadPosRankSum=-0.894;VQSLOD=4.1930;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,21:41:99:562,0,479 1 226352498 226352498 T G exonic ACBD3 nonsynonymous SNV ACBD3:NM_022735:exon3:c.A561C:p.E187D 0.53 0.61 0.64 0.45 0.61 0.34 0.5747 0.5916 0.7449 0.4270 0.6276 0.5954 0.5454 0.4167 0.6 0.59 0.6 0.48 0.59 rs2306120 COSM3997294 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.1 0.305 T 0.612 0.378 P 0.237 0.368 B 0.000 0.843 D 0.354 0.329 P 2.61 0.766 M 1.49 0.315 T -1.35 0.336 N 0.167 0.202 -1.048 0.149 T 0.000 0.000 T . . . 1.770 0.274 14.81 0.986 0.427 0.738 0.358 D c -0.400 -0.493 0.134 0.172 0.707 0.730 0 -6.12 0.019 -0.048 0.118 0.045 0.158 0.901 0.312 0.998 0.697 19.101 0.932 . ENSG00000182827.8|ENSG00000182827.8|ENSG00000234478.1|ENSG00000182827.8|ENSG00000163041.5|ENSG00000182827.8|ENSG00000182827.8 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial 0.5842 0.5893 0.7371 0.6116 0.4294 0.6304 0.5963 0.5701 0.4199 0.5884 0.5869 0.6814 0.5662 0.4320 0.6073 0.5976 0.5786 het 1256.97 120 1 226352498 . T G 1256.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.417;DP=120;Dels=0.00;FS=1.484;HRun=0;HaplotypeScore=3.8197;MQ=59.59;MQ0=0;MQRankSum=0.463;QD=10.47;ReadPosRankSum=0.559;VQSLOD=6.1503;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,52:120:99:1287,0,1767 1 226474132 226474132 G A exonic LIN9 synonymous SNV LIN9:NM_001270409:exon5:c.C369T:p.F123F,LIN9:NM_001270410:exon6:c.C270T:p.F90F,LIN9:NM_173083:exon6:c.C474T:p.F158F 0.71 0.75 0.67 0.74 0.68 0.66 0.7070 0.7368 0.7957 0.7391 0.7747 0.6824 0.6797 0.6831 0.7 0.74 0.69 0.65 0.53 rs10799347 COSM3930661 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7108 0.7314 0.7870 0.6780 0.7455 0.7768 0.6790 0.6692 0.6845 0.7150 0.7235 0.7267 0.6490 0.7466 0.7640 0.6950 0.7286 het 1188.20 92 1 226474132 . G A 1188.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.156;DP=92;Dels=0.00;FS=0.785;HRun=2;HaplotypeScore=2.3984;MQ=57.46;MQ0=0;MQRankSum=0.461;QD=12.92;ReadPosRankSum=0.219;VQSLOD=5.0334;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,45:92:99:1218,0,1188 1 226570840 226570840 T C exonic PARP1 synonymous SNV PARP1:NM_001618:exon8:c.A1056G:p.K352K 0.79 0.91 0.65 0.56 0.85 0.9 0.7939 0.8975 0.5514 0.5649 0.7633 0.8262 0.8216 0.8983 0.86 0.9 0.84 0.85 0.71 rs1805415 COSM3746819 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7839 0.9007 0.5734 0.8413 0.5545 0.7655 0.8333 0.7985 0.8972 0.8228 0.8962 0.6388 0.8411 0.5603 0.7643 0.8339 0.7895 hom 4779.75 150 1 226570840 . T C 4779.75 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3691;MQ=59.31;MQ0=0;QD=31.86;VQSLOD=8.4601;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4779,373,0 1 226923264 226923264 G A exonic ITPKB synonymous SNV ITPKB:NM_002221:exon2:c.C1896T:p.A632A 0.28 0.24 0.32 0.26 0.31 0.29 0.2858 0.2527 0.2894 0.2665 0.2780 0.2866 0.3143 0.3265 0.28 0.25 0.29 0.28 0.23 rs708775 COSM4417979;COSM146796 1(stomach);3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2805 0.2508 0.2925 0.2860 0.2694 0.2659 0.2833 0.3036 0.2913 0.2679 0.2545 0.3258 0.2815 0.2882 0.2729 0.2691 0.2648 het 2023.74 226 1 226923264 . G A 2023.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.048;DP=226;Dels=0.00;FS=1.087;HRun=2;HaplotypeScore=7.7932;MQ=59.23;MQ0=0;MQRankSum=-1.765;QD=8.95;ReadPosRankSum=0.115;VQSLOD=3.2857;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:146,79:226:99:2054,0,3833 1 226923505 226923505 G T exonic ITPKB nonsynonymous SNV ITPKB:NM_002221:exon2:c.C1655A:p.P552Q 0.98 1. 0.96 1. 0.94 0.99 0.9646 0.9919 0.9793 0.9999 0.9525 0.9481 0.9635 0.9907 0.96 0.99 0.94 0.98 0.97 rs708776 . . . . . . . . . . . . . 0.583 0.059 T 0.0 0.026 B 0.0 0.013 B 0.484 0.121 N 1 0.090 P -0.895 0.014 N 1.98 0.229 T 0.53 0.028 N 0.024 0.007 -1.012 0.264 T 0.000 0.000 T . . . 0.143 0.108 4.073 0.455 0.035 0.012 0.043 N c -1.529 -1.510 1.000 0.747 0.677 0.550 0 -4.95 0.028 -0.492 0.065 0.117 0.209 0.003 0.159 0.918 0.393 2.079 0.034 . . . 0.9640 0.9913 0.9758 0.9834 0.9999 0.9562 0.9436 0.9601 0.9915 0.9587 0.9889 0.9690 0.9967 1 0.9576 0.9359 0.9519 hom 2034.28 61 1 226923505 . G T 2034.28 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=59.62;MQ0=0;QD=33.35;VQSLOD=9.7905;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:2067,163,0 1 226923938 226923938 A C exonic ITPKB nonsynonymous SNV ITPKB:NM_002221:exon2:c.T1222G:p.S408A 0.61 0.61 0.66 0.68 0.53 0.6 0.5305 0.5845 0.7358 0.6685 0.4347 0.4720 0.5254 0.5623 0.51 0.58 0.48 0.71 0.46 rs6667260 COSM4143423;COSM425464 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.983 0.081 N 1 0.090 P -1.445 0.006 N 2.07 0.205 T 0.05 0.064 N 0.028 0.009 -0.944 0.420 T 0.000 0.000 T . . . -1.658 0.013 0.002 0.196 0.007 0.001 0.007 N c -1.506 -1.450 1.000 0.410 0.628 0.401 0 1.01 0.190 -0.836 0.045 -0.014 0.131 0.000 0.063 0.002 0.062 3.041 0.057 . ENSG00000143801.12 Cells_Transformed_fibroblasts 0.5341 0.5812 0.7222 0.5524 0.6683 0.4233 0.4677 0.5392 0.5566 0.5021 0.5859 0.7146 0.5464 0.6660 0.4297 0.4417 0.4723 hom 1628.25 49 1 226923938 . A C 1628.25 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.23;VQSLOD=13.6073;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1661,129,0 1 226924642 226924642 C T exonic ITPKB nonsynonymous SNV ITPKB:NM_002221:exon2:c.G518A:p.R173H 0.23 0.17 0.2 0.34 0.21 0.22 0.2073 0.1738 0.3185 0.3280 0.1558 0.1880 0.1973 0.1848 0.18 0.18 0.18 0.3 0.18 rs3754415 COSM425466;COSM3746820 1(liver);2(thyroid) . . . . . . . . . . . 0.032 0.446 D 0.946 0.514 P 0.224 0.363 B 0.000 0.537 D 0.418 0.324 P 0.895 0.225 L 1.24 0.377 T -0.65 0.475 N 0.149 0.176 -0.958 0.395 T 0.000 0.000 T . . . 6.758 0.921 32 0.999 0.999 0.749 0.364 D c 0.214 0.284 1.000 0.747 0.628 0.401 0 4.6 0.564 1.881 0.390 0.935 0.490 0.765 0.291 1.000 0.888 9.190 0.362 . . . 0.2100 0.1637 0.3077 0.2596 0.3225 0.1553 0.1821 0.2101 0.1844 0.1806 0.1721 0.2936 0.2649 0.3011 0.1544 0.1704 0.1844 het 2018.16 146 1 226924642 . C T 2018.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.316;DP=146;Dels=0.00;FS=11.768;HRun=0;HaplotypeScore=2.9711;MQ=59.27;MQ0=0;MQRankSum=1.419;QD=13.82;ReadPosRankSum=-0.796;VQSLOD=4.0341;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,79:146:99:2048,0,1830 1 227069677 227069677 T C exonic PSEN2 synonymous SNV PSEN2:NM_000447:exon4:c.T69C:p.A23A,PSEN2:NM_012486:exon4:c.T69C:p.A23A 0.74 0.83 0.72 0.54 0.8 0.75 0.7603 0.8168 0.7404 0.5626 0.7863 0.7801 0.7841 0.7508 0.79 0.82 0.78 0.79 0.65 rs11405 COSM4417773;COSM4417774 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Dilated_Cardiomyopathy\x2c_Dominant|Early-Onset_Familial_Alzheimer_Disease RCV000248412.1|RCV000286903.1|RCV000372045.1 MedGen|MedGen|MedGen CN169374|CN239310|CN043596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7569 0.8162 0.7408 0.7548 0.5550 0.7870 0.7788 0.7744 0.7546 0.7693 0.8193 0.7536 0.7682 0.5455 0.7845 0.7619 0.7643 hom 3518.17 113 1 227069677 . T C 3518.17 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6490;MQ=59.47;MQ0=0;QD=31.13;VQSLOD=9.1471;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3517,304,0 1 227069737 227069737 C T exonic PSEN2 synonymous SNV PSEN2:NM_000447:exon4:c.C129T:p.N43N,PSEN2:NM_012486:exon4:c.C129T:p.N43N 0.44 0.36 0.48 0.39 0.59 0.43 0.4995 0.3905 0.5145 0.4064 0.5332 0.5425 0.5434 0.4169 0.49 0.39 0.54 0.52 0.39 rs6759 COSM4415168;COSM4415169 2(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy\x2c_Dominant RCV000244764.1|RCV000342061.1|RCV000378064.1 MedGen|MedGen|MedGen CN169374|CN043596|CN239310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5025 0.3796 0.5185 0.6122 0.4051 0.5361 0.5342 0.5450 0.4195 0.4770 0.3866 0.5371 0.6192 0.3888 0.5358 0.5173 0.5072 hom 1982.33 63 1 227069737 . C T 1982.33 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8268;MQ=59.63;MQ0=0;QD=31.47;VQSLOD=9.5406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2015,168,0 1 227071525 227071525 C T exonic PSEN2 synonymous SNV PSEN2:NM_000447:exon5:c.C261T:p.H87H,PSEN2:NM_012486:exon5:c.C261T:p.H87H 0.44 0.36 0.48 0.39 0.59 0.43 0.4991 0.3877 0.5158 0.4064 0.5331 0.5418 0.5452 0.4170 0.49 0.39 0.54 0.51 0.43 rs1046240 COSM4143427;COSM4143428 1(breast);4(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Likely benign|Likely benign not_specified|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy\x2c_Dominant RCV000247730.1|RCV000343972.1|RCV000394749.1 MedGen|MedGen|MedGen CN169374|CN043596|CN239310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5030 0.3796 0.5193 0.6124 0.4051 0.5363 0.5348 0.5458 0.4194 0.4774 0.3867 0.5383 0.6192 0.3856 0.5367 0.5179 0.5072 hom 7548.38 248 1 227071525 . C T 7548.38 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9961;MQ=59.22;MQ0=0;QD=30.44;VQSLOD=6.4527;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7548,590,0 1 227182033 227182033 G A exonic CDC42BPA nonsynonymous SNV CDC42BPA:NM_014826:exon35:c.C4853T:p.A1618V,CDC42BPA:NM_003607:exon36:c.C5096T:p.A1699V 0.88 0.93 0.87 0.89 0.87 0.81 0.8883 0.9138 0.8917 0.8916 0.9341 0.8973 0.9091 0.8189 0.9 0.92 0.89 0.92 0.75 rs2802269 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.063 B 0.107 0.196 N 1 0.090 P 0.41 0.124 N -0.18 0.659 T -0.16 0.107 N 0.063 0.374 -0.940 0.427 T 0.000 0.000 T . . . 1.547 0.248 13.57 0.971 0.320 0.167 0.193 N c -1.088 -0.971 1.000 0.747 0.742 0.980 0 1.22 0.202 2.039 0.406 0.168 0.246 0.658 0.280 0.951 0.427 5.596 0.165 . . . 0.8875 0.9120 0.8925 0.9101 0.8863 0.9312 0.8928 0.8947 0.8143 0.9063 0.9090 0.8950 0.9139 0.9024 0.9290 0.9009 0.8957 hom 410.65 17 1 227182033 . G A 410.65 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.77;MQ0=0;QD=24.16;VQSLOD=7.8088;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:36.09:444,36,0 1 227182575 227182575 A G exonic CDC42BPA synonymous SNV CDC42BPA:NM_014826:exon34:c.T4734C:p.S1578S,CDC42BPA:NM_003607:exon35:c.T4977C:p.S1659S 0.83 0.98 0.84 0.83 0.83 0.61 0.7983 0.9505 0.8087 0.8427 0.7385 0.8115 0.7874 0.6433 0.86 0.94 0.81 0.92 0.85 rs1045247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7983 0.9516 0.8212 0.8791 0.8354 0.7434 0.8109 0.8030 0.6436 0.8387 0.9471 0.8237 0.9007 0.8356 0.7513 0.8001 0.7721 hom 5823.11 187 1 227182575 . A G 5823.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.620;DP=187;Dels=0.00;FS=3.434;HRun=1;HaplotypeScore=2.8622;MQ=59.33;MQ0=0;MQRankSum=0.354;QD=31.14;ReadPosRankSum=1.322;VQSLOD=4.4495;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,186:187:99:5782,441,0 1 227216662 227216662 T C exonic CDC42BPA synonymous SNV CDC42BPA:NM_014826:exon28:c.A3780G:p.K1260K,CDC42BPA:NM_003607:exon29:c.A4023G:p.K1341K 0.4 0.48 0.42 0.4 0.47 0.23 0.4318 0.4633 0.4718 0.4441 0.4368 0.4599 0.4349 0.2618 0.46 0.47 0.46 0.61 0.42 rs1929861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4334 0.4631 0.4716 0.4770 0.4342 0.4399 0.4599 0.4341 0.2617 0.4504 0.4584 0.4726 0.4967 0.4355 0.4290 0.4512 0.4338 het 1213.02 94 1 227216662 . T C 1213.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.415;DP=94;Dels=0.00;FS=0.788;HRun=1;HaplotypeScore=0.5784;MQ=58.55;MQ0=0;MQRankSum=-0.515;QD=12.90;ReadPosRankSum=0.227;VQSLOD=5.9442;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,45:94:99:1243,0,1388 1 227216775 227216775 C T exonic CDC42BPA nonsynonymous SNV CDC42BPA:NM_014826:exon28:c.G3667A:p.V1223I,CDC42BPA:NM_003607:exon29:c.G3910A:p.V1304I 0.28 0.19 0.33 0.4 0.33 0.19 0.3177 0.2096 0.4015 0.4421 0.3621 0.3261 0.3128 0.2108 0.28 0.22 0.32 0.43 0.3 rs1929860 COSM3746824;COSM3746823;COSM3746825;COSM3746822;COSM3746821 1(liver);1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.093 B 0.000 0.629 N 1.000 0.189 P -1.08 0.010 N 3.6 0.045 T 0.49 0.032 N 0.041 0.196 -0.927 0.446 T 0.000 0.000 T . . . 1.126 0.202 11.36 0.302 0.016 0.121 0.169 N c -1.008 -0.775 0.487 0.208 0.722 0.854 0 4.18 0.483 0.262 0.181 0.119 0.209 0.096 0.225 0.993 0.574 8.523 0.323 Citron homology (CNH) domain . . 0.3228 0.2106 0.3958 0.3016 0.4329 0.3663 0.3232 0.3198 0.2124 0.3037 0.2112 0.3708 0.3079 0.4350 0.3629 0.3246 0.3180 het 917.23 59 1 227216775 . C T 917.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.014;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6454;MQ=58.82;MQ0=0;MQRankSum=0.424;QD=15.55;ReadPosRankSum=-0.486;VQSLOD=5.9825;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,35:59:99:947,0,661 1 227504794 227504794 T C exonic CDC42BPA synonymous SNV CDC42BPA:NM_003607:exon1:c.A90G:p.T30T,CDC42BPA:NM_014826:exon1:c.A90G:p.T30T 0.27 0.34 0.3 0.34 0.15 0.21 0.2172 0.3053 0.3985 0.3837 0.2387 0.1522 0.1971 0.2024 0.2 0.3 0.14 0.36 0.13 rs11804613 COSM3746829;COSM3746830;COSM3746826;COSM3746828;COSM3746827 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2200 0.3062 0.3753 0.1181 0.3834 0.2345 0.1498 0.1922 0.1984 0.2195 0.2972 0.3317 0.0927 0.3764 0.2288 0.1521 0.2077 het 1252.44 108 1 227504794 . T C 1252.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.442;DP=108;Dels=0.00;FS=2.656;HRun=0;HaplotypeScore=5.9591;MQ=57.91;MQ0=0;MQRankSum=2.763;QD=11.60;ReadPosRankSum=-0.563;VQSLOD=3.9000;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,53:108:99:1282,0,1344 1 227923081 227923081 G A exonic JMJD4 nonsynonymous SNV JMJD4:NM_001161465:exon1:c.C32T:p.A11V,JMJD4:NM_023007:exon1:c.C32T:p.A11V 1. 1. 1. 1. 1. 1. 0.9998 1 0.9995 1 1 0.9998 1 1 1. 1. 1. 0.76 0.62 rs7419238 COSM3749033 1(thyroid);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.198 P -0.55 0.024 N 2.12 0.197 T 0.12 0.056 N 0.033 0.013 -1.008 0.277 T 0.000 0.000 T . . . -0.327 0.066 0.576 0.770 0.113 0.002 0.010 N c -0.965 -1.050 1.000 0.747 0.035 0.002 3 1.99 0.253 -0.027 0.122 0.142 0.226 0.000 0.063 0.001 0.043 5.777 0.174 . . . 0.9998 1 0.9996 0.9996 1 1 0.9998 0.9992 1 1.0000 1 1 1 1 1 0.9999 1 hom 494.97 19 1 227923081 . G A 494.97 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.05;VQSLOD=13.2633;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:42.13:528,42,0 1 228033197 228033197 A G exonic PRSS38 nonsynonymous SNV PRSS38:NM_183062:exon4:c.A610G:p.M204V 0.8 0.77 0.76 0.69 0.84 0.91 0.8277 0.7935 0.6481 0.7173 0.8177 0.8580 0.8542 0.9092 0.84 0.8 0.86 0.75 0.79 rs9426581 . . . . . . . . . . . . . 0.377 0.113 T 0.0 0.026 B 0.0 0.013 B 0.636 0.106 N 1 0.090 P -2.23 0.001 N 0.52 0.553 T 0.73 0.021 N 0.039 0.019 -0.975 0.362 T 0.000 0.000 T . . . -0.634 0.048 0.103 0.656 0.076 0.008 0.032 N c -1.398 -1.229 0.998 0.370 0.487 0.133 0 3.16 0.353 1.094 0.304 0.138 0.222 0.412 0.260 0.007 0.100 6.540 0.214 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.8188 0.7877 0.6590 0.8330 0.7135 0.8197 0.8605 0.8322 0.9083 0.8247 0.7796 0.7088 0.8046 0.6970 0.8315 0.8703 0.8203 het 569.32 48 1 228033197 . A G 569.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.528;DP=48;Dels=0.00;FS=1.490;HRun=1;HaplotypeScore=1.7608;MQ=58.55;MQ0=0;MQRankSum=-0.011;QD=11.86;ReadPosRankSum=0.757;VQSLOD=5.9269;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,22:48:99:599,0,682 1 228109247 228109247 C T exonic WNT9A nonsynonymous SNV WNT9A:NM_003395:exon4:c.G1070A:p.R357H 0.0002 . . . 0.001 . 0.0011 9.762e-05 0.0011 0.0001 0.0008 0.0017 0 0 0.0014 0.0002 0.002 . . rs145836311 COSM3785173 2(pancreas) . . . . . . . . . . . 0.01 0.564 D 0.985 0.592 D 0.806 0.566 P 0.000 0.629 D 0.998 0.449 D 1.97 0.535 M -1.02 0.763 T -2.09 0.476 N 0.578 0.628 -0.390 0.724 T 0.419 0.765 T 0.149 0.831 D 7.218 0.946 34 0.999 0.986 0.674 0.332 D c 0.250 0.229 1.000 0.427 0.615 0.372 0 4.64 0.572 1.144 0.310 0.789 0.320 0.243 0.246 0.963 0.446 10.293 0.426 . . . 0.0011 6.545e-05 0.0010 0 0.0002 0.0006 0.0018 0.0013 3.257e-05 0.0010 0.0002 0 0 0 0 0.0019 0.0010 het 1262.23 95 1 228109247 . C T 1262.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.051;DP=95;Dels=0.00;FS=3.836;HRun=0;HaplotypeScore=1.6828;MQ=59.56;MQ0=0;MQRankSum=0.748;QD=13.29;ReadPosRankSum=0.197;VQSLOD=4.8474;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,48:95:99:1292,0,1225 1 228402047 228402047 A G exonic OBSCN synonymous SNV OBSCN:NM_001098623:exon4:c.A1431G:p.L477L,OBSCN:NM_001271223:exon4:c.A1431G:p.L477L,OBSCN:NM_052843:exon4:c.A1431G:p.L477L 0.72 0.68 0.64 0.82 0.64 0.8 0.6544 0.6583 0.6030 0.8132 0.6609 0.6132 0.6633 0.7672 0.63 0.67 0.61 0.69 . rs1620111 COSM1339494;COSM1339493;COSM1339492 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6515 0.6615 0.6027 0.6049 0.8094 0.6582 0.6117 0.6406 0.7665 0.6403 0.6612 0.5919 0.6490 0.8168 0.6403 0.6098 0.6663 hom 3209.21 92 1 228402047 . A G 3209.21 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.02;MQ0=0;QD=34.88;VQSLOD=9.1517;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3242,259,0 1 228402121 228402121 A G exonic OBSCN nonsynonymous SNV OBSCN:NM_001098623:exon4:c.A1505G:p.Q502R,OBSCN:NM_001271223:exon4:c.A1505G:p.Q502R,OBSCN:NM_052843:exon4:c.A1505G:p.Q502R 0.72 0.68 0.64 0.82 0.64 0.8 0.6539 0.6577 0.6032 0.8131 0.6616 0.6122 0.6633 0.7671 0.63 0.66 0.61 0.61 . rs1771487 COSM5003093;COSM5003092;COSM5003094 1(pancreas) . . . . . . . . . . . 0.901 0.242 T 0.01 0.165 B 0.013 0.166 B 0.000 0.513 D 0.939 0.810 P 0.62 0.158 N -1.0 0.760 T -1.84 0.457 N 0.118 0.302 -1.001 0.295 T 0.000 0.000 T . . . 3.331 0.459 22.9 0.997 0.778 0.948 0.621 D c -0.306 -0.081 1.000 0.747 0.767 0.994 0 5.27 0.737 3.899 0.558 1.199 0.960 1.000 0.715 0.348 0.245 15.165 0.724 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000162913.9|ENSG00000162913.9|ENSG00000269890.1|ENSG00000154358.15|ENSG00000162913.9|ENSG00000270110.1|ENSG00000269934.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000181873.8|ENSG00000162913.9|ENSG00000154358.15|ENSG00000162910.14|ENSG00000162913.9|ENSG00000162913.9|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000181218.4|ENSG00000270110.1|ENSG00000162913.9|ENSG00000162913.9|ENSG00000181873.8 Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood 0.6517 0.6616 0.6028 0.6046 0.8095 0.6583 0.6117 0.6398 0.7663 0.6403 0.6600 0.5923 0.6490 0.8182 0.6406 0.6104 0.6643 hom 3895.52 122 1 228402121 . A G 3895.52 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2185;MQ=58.47;MQ0=0;QD=31.93;VQSLOD=6.8286;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,120:122:99:3895,319,0 1 228444565 228444565 T A exonic OBSCN nonsynonymous SNV OBSCN:NM_001098623:exon15:c.T4523A:p.V1508D,OBSCN:NM_052843:exon15:c.T4523A:p.V1508D,OBSCN:NM_001271223:exon16:c.T4799A:p.V1600D 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.94 . rs7532342 COSM4591835;COSM4591836;COSM4591837 23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.040 B 0.001 0.426 N 0.001 0.810 P -4.3 0.000 N 1.1 0.390 T 5.76 0.000 N 0.268 0.355 -0.939 0.429 T 0.000 0.000 T . . . 0.030 0.096 2.884 0.239 0.010 0.026 0.071 N c -1.375 -1.086 0.193 0.180 0.706 0.609 0 4.6 0.564 6.737 0.744 0.200 0.252 1.000 0.715 0.008 0.104 10.586 0.443 Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2212.31 80 1 228444565 . T A 2212.31 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=59.34;MQ0=0;QD=27.65;VQSLOD=7.0306;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:80:99:2245,207,0 1 228482569 228482569 G A exonic OBSCN synonymous SNV OBSCN:NM_001098623:exon43:c.G11484A:p.A3828A,OBSCN:NM_052843:exon43:c.G11484A:p.A3828A,OBSCN:NM_001271223:exon48:c.G12771A:p.A4257A 0.013 . 0.027 . 0.045 . 0.0211 0.0041 0.0200 0 0.0091 0.0324 0.02 0.0019 0.024 0.0053 0.032 . . rs56122236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0212 0.0046 0.0228 0.0174 0 0.0098 0.0338 0.0265 0.0023 0.0211 0.0071 0.0191 0.0066 0 0.0103 0.0346 0.0173 het 4546.05 250 1 228482569 . G A 4546.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.507;DP=250;DS;Dels=0.00;FS=2.157;HRun=0;HaplotypeScore=2.8301;MQ=59.74;MQ0=0;MQRankSum=1.679;QD=18.18;ReadPosRankSum=1.138;VQSLOD=4.5319;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:122,128:250:99:3850,0,3198 1 228506768 228506768 C T exonic OBSCN nonsynonymous SNV OBSCN:NM_001098623:exon54:c.C14315T:p.P4772L,OBSCN:NM_052843:exon54:c.C14315T:p.P4772L,OBSCN:NM_001271223:exon65:c.C17186T:p.P5729L 0.0002 . . . 0.001 . 0.0002 0 0 0 0 0.0004 0 0 0.0003 . 0.0005 . . rs142983293 . . . . . . . . . . . . . 0.075 0.344 T 0.067 0.246 B 0.016 0.214 B 0.076 0.212 N 1.000 0.205 N 0 0.065 N 0.54 0.608 T -1.45 0.356 N 0.087 0.230 -1.059 0.120 T 0.075 0.301 T 0.038 0.581 D 1.693 0.265 14.37 0.930 0.220 0.035 0.086 N c -0.881 -0.816 0.028 0.138 0.615 0.372 0 2.13 0.263 -0.365 0.076 -0.561 0.047 0.000 0.063 0.033 0.150 4.527 0.113 . . . 0.0002 0 3.01e-05 0 0 0 0.0004 0.0002 0 0.0004 0.0001 0 0 0 0 0.0007 0 het 321.02 29 1 228506768 . C T 321.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.110;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=59.20;MQ0=0;MQRankSum=-0.241;QD=11.07;ReadPosRankSum=-1.425;VQSLOD=4.7049;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,13:29:99:351,0,466 1 228547901 228547901 C T exonic OBSCN synonymous SNV OBSCN:NM_052843:exon81:c.C19308T:p.D6436D 0.3 0.11 0.31 0.27 0.33 0.54 0.3126 0.1635 0.3209 0.2866 0.2343 0.2981 0.3509 0.4932 0.25 0.16 0.3 0.24 . rs12035900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3116 0.1610 0.3073 0.3537 0.2860 0.2291 0.2996 0.3208 0.4928 0.2446 0.1590 0.2864 0.3477 0.3151 0.2196 0.2846 0.3002 hom 1734.01 56 1 228547901 . C T 1734.01 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=30.96;VQSLOD=9.4887;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1767,147,0 1 228560700 228560700 T C exonic OBSCN synonymous SNV OBSCN:NM_001098623:exon94:c.T22221C:p.D7407D,OBSCN:NM_001271223:exon105:c.T25092C:p.D8364D 0.76 0.94 0.64 0.75 0.56 0.81 0.6317 0.8887 0.6755 0.7978 0.5118 0.5550 0.648 0.7625 0.65 0.86 0.55 0.81 . rs512253 COSM1473568 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6322 0.8877 0.6671 0.6456 0.8000 0.5089 0.5490 0.6110 0.7576 0.6472 0.8718 0.6411 0.6523 0.8073 0.5069 0.5350 0.6006 hom 854.29 36 1 228560700 . T C 854.29 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.05;MQ0=0;QD=23.73;VQSLOD=7.1969;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:72.20:887,72,0 1 228612838 228612838 G T exonic HIST3H3 synonymous SNV HIST3H3:NM_003493:exon1:c.C189A:p.I63I 0.69 0.31 0.9 0.69 0.88 0.86 0.8208 0.3981 0.9333 0.6616 0.7950 0.8819 0.8381 0.8542 0.73 0.42 0.89 0.65 0.84 rs2230656 COSM4143485 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8331 0.3958 0.9266 0.8810 0.6591 0.8025 0.8862 0.8567 0.8561 0.7267 0.4067 0.9141 0.8510 0.6718 0.8040 0.8814 0.8200 hom 6507.31 210 1 228612838 . G T 6507.31 Mask AC=2;AF=1.00;AN=2;DP=210;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3895;MQ=59.44;MQ0=0;QD=30.99;VQSLOD=7.6087;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,210:210:99:6506,539,0 1 228612892 228612892 G A exonic HIST3H3 synonymous SNV HIST3H3:NM_003493:exon1:c.C135T:p.G45G 0.043 0.0061 0.052 0.014 0.075 0.086 0.0706 0.0142 0.0293 0.0203 0.0666 0.0881 0.0872 0.0908 0.063 0.017 0.087 0.054 0.082 rs56336130 COSM3722048 1(liver);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0710 0.0123 0.0360 0.0753 0.0194 0.0672 0.0923 0.0750 0.0906 0.0632 0.0135 0.0453 0.0629 0.0265 0.0770 0.0930 0.0764 het 1014.37 127 1 228612892 . G A 1014.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.792;DP=127;Dels=0.00;FS=0.860;HRun=0;HaplotypeScore=3.5600;MQ=59.26;MQ0=0;MQRankSum=1.057;QD=7.99;ReadPosRankSum=-0.673;VQSLOD=5.1139;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,49:127:99:1044,0,2218 1 229461024 229461024 C T exonic CCSAP synonymous SNV CCSAP:NM_145257:exon4:c.G771A:p.P257P 0.36 0.21 0.51 0.39 0.45 0.33 0.4124 0.2475 0.4614 0.3839 0.4448 0.4463 0.3954 0.3475 0.37 0.25 0.43 0.33 0.38 rs2282083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4159 0.2436 0.4579 0.4256 0.3845 0.4431 0.4429 0.4270 0.3501 0.3773 0.2484 0.4523 0.4139 0.3439 0.4427 0.4333 0.4145 het 2167.53 192 1 229461024 . C T 2167.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.088;DP=192;Dels=0.00;FS=0.543;HRun=0;HaplotypeScore=4.2805;MQ=58.57;MQ0=0;MQRankSum=-1.578;QD=11.29;ReadPosRankSum=-0.169;VQSLOD=4.5874;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,87:192:99:2198,0,2534 1 229730452 229730452 G A exonic TAF5L synonymous SNV TAF5L:NM_014409:exon5:c.C1362T:p.S454S 0.3 0.094 0.27 0.33 0.46 0.43 0.3986 0.1340 0.2504 0.3293 0.4655 0.4632 0.4218 0.4150 0.36 0.15 0.46 0.25 0.3 rs2295625 COSM4143493 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3981 0.1301 0.2615 0.4156 0.3236 0.4632 0.4672 0.4220 0.4147 0.3732 0.1428 0.2967 0.4106 0.3346 0.4688 0.4876 0.4521 hom 7840.08 236 1 229730452 . G A 7840.08 Mask AC=2;AF=1.00;AN=2;DP=236;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7480;MQ=59.67;MQ0=0;QD=33.22;VQSLOD=9.4388;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,233:236:99:7839,638,0 1 229738170 229738170 T G exonic TAF5L synonymous SNV TAF5L:NM_001025247:exon4:c.A744C:p.R248R,TAF5L:NM_014409:exon4:c.A744C:p.R248R 0.57 0.49 0.54 0.76 0.52 0.57 0.5508 0.5128 0.6649 0.7638 0.5581 0.5073 0.5507 0.5557 0.51 0.51 0.51 0.55 0.39 rs3753886 COSM4143494;COSM4143495 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5595 0.5142 0.6665 0.4877 0.7585 0.5648 0.5100 0.5487 0.5537 0.5392 0.5180 0.6304 0.4934 0.7324 0.5639 0.5203 0.5449 hom 3511.45 114 1 229738170 . T G 3511.45 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8761;MQ=58.56;MQ0=0;QD=30.80;VQSLOD=7.6035;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3511,292,0 1 229738236 229738236 G A exonic TAF5L synonymous SNV TAF5L:NM_001025247:exon4:c.C678T:p.P226P,TAF5L:NM_014409:exon4:c.C678T:p.P226P 0.84 0.93 0.72 0.94 0.76 0.79 0.7898 0.9153 0.7831 0.9495 0.7408 0.7536 0.7941 0.7972 0.81 0.92 0.75 0.81 0.82 rs4925500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7901 0.9158 0.7913 0.8316 0.9467 0.7469 0.7516 0.7821 0.7968 0.8106 0.9205 0.7859 0.8510 0.9420 0.7479 0.7506 0.7658 hom 4389.68 132 1 229738236 . G A 4389.68 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7418;MQ=58.88;MQ0=0;QD=33.26;VQSLOD=7.1027;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4389,346,0 1 229772693 229772693 T G exonic URB2 nonsynonymous SNV URB2:NM_001314021:exon4:c.T2333G:p.V778G,URB2:NM_014777:exon4:c.T2333G:p.V778G 0.57 0.48 0.54 0.76 0.52 0.57 0.5515 0.5086 0.6654 0.7640 0.5585 0.5082 0.5530 0.5590 0.51 0.5 0.51 0.54 0.39 rs3811473 COSM5001335 1(pancreas) . . . . . . . . . . . 0.951 0.021 T 0.0 0.026 B 0.0 0.013 B 0.877 0.088 N 1 0.090 P -1.7 0.004 N 1.62 0.282 T 1.77 0.005 N 0.006 0.000 -1.014 0.258 T 0.000 0.000 T . . . -0.649 0.047 0.095 0.100 0.001 0.029 0.077 N c -1.338 -1.317 0.992 0.325 0.707 0.730 0 -2.13 0.067 -0.341 0.078 -0.352 0.070 0.000 0.063 0.005 0.090 3.400 0.068 . . . 0.5596 0.5101 0.6660 0.4903 0.7580 0.5646 0.5105 0.5477 0.5554 0.5389 0.5148 0.6277 0.4967 0.7318 0.5656 0.5211 0.5489 hom 4448.58 128 1 229772693 . T G 4448.58 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;QD=34.75;VQSLOD=10.1094;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4448,346,0 1 229790048 229790048 A G exonic URB2 synonymous SNV URB2:NM_001314021:exon9:c.A4290G:p.R1430R,URB2:NM_014777:exon9:c.A4290G:p.R1430R 0.6 0.5 0.58 0.85 0.55 0.57 0.5635 0.5320 0.6969 0.8728 0.5218 0.5129 0.5662 0.5493 0.52 0.52 0.52 0.55 0.38 rs7521953 COSM3750980 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5727 0.5347 0.6956 0.5317 0.8667 0.5272 0.5154 0.5664 0.5482 0.5478 0.5367 0.6531 0.5199 0.8405 0.5347 0.5215 0.5287 hom 7038.97 223 1 229790048 . A G 7038.97 Mask AC=2;AF=1.00;AN=2;DP=223;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5700;MQ=59.37;MQ0=0;QD=31.56;VQSLOD=8.1344;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:223:99:7038,554,0 1 230384970 230384970 G A exonic GALNT2 synonymous SNV GALNT2:NM_001291866:exon9:c.G744A:p.T248T,GALNT2:NM_004481:exon9:c.G858A:p.T286T 0.11 0.096 0.075 0.094 0.15 0.13 0.1400 0.0983 0.0746 0.1125 0.1644 0.1559 0.1567 0.1519 0.14 0.099 0.16 0.11 0.16 rs1923950 COSM3750982 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1378 0.0965 0.0796 0.1759 0.1099 0.1633 0.1540 0.1272 0.1501 0.1345 0.0973 0.0943 0.1954 0.1292 0.1619 0.1511 0.1375 het 997.45 98 1 230384970 . G A 997.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.315;DP=98;Dels=0.00;FS=1.825;HRun=0;HaplotypeScore=3.7415;MQ=57.63;MQ0=0;MQRankSum=0.587;QD=10.18;ReadPosRankSum=0.823;VQSLOD=4.9144;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,43:98:99:1027,0,1524 1 230461079 230461079 G A exonic PGBD5 synonymous SNV PGBD5:NM_001258311:exon6:c.C1356T:p.C452C 0.24 0.15 0.26 0.49 0.16 0.15 0.1880 0.1545 0.1985 0.4883 0.1456 0.1702 0.1556 0.1338 0.17 0.16 0.17 0.15 0.16 rs2306813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1883 0.1542 0.2017 0.1200 0.4938 0.1527 0.1730 0.1558 0.1293 0.1867 0.1480 0.2201 0.1467 0.4994 0.1626 0.1819 0.1561 het 2958.65 246 1 230461079 . G A 2958.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.972;DP=246;DS;Dels=0.00;FS=2.273;HRun=0;HaplotypeScore=3.7547;MQ=59.30;MQ0=0;MQRankSum=-0.262;QD=12.03;ReadPosRankSum=0.386;VQSLOD=6.1981;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:129,117:246:99:2989,0,3621 1 230841687 230841687 T C exonic AGT synonymous SNV AGT:NM_000029:exon3:c.A1116G:p.L372L 0.97 1. 0.95 1. 0.92 0.99 0.9441 0.9870 0.9691 1 0.9484 0.9161 0.9470 0.9814 0.94 0.98 0.92 0.95 0.89 rs7080 . . Benign|Benign not_specified|Renal_dysplasia RCV000250884.1|RCV000375752.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0266313:267430:204949001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9446 0.9870 0.9663 0.9430 0.9999 0.9422 0.9143 0.9399 0.9816 0.9473 0.9853 0.9403 0.9570 1 0.9427 0.9216 0.9347 hom 6693.38 214 1 230841687 . T C 6693.38 Mask AC=2;AF=1.00;AN=2;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7304;MQ=59.72;MQ0=0;QD=31.28;VQSLOD=8.2717;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:6693,521,0 1 230895340 230895340 C A exonic CAPN9 nonsynonymous SNV CAPN9:NM_006615:exon3:c.C366A:p.S122R,CAPN9:NM_016452:exon3:c.C366A:p.S122R 0.15 0.17 0.065 0.076 0.15 0.28 0.1536 0.1647 0.0531 0.0755 0.2274 0.1417 0.1347 0.2784 0.15 0.17 0.14 0.16 0.098 rs28359608 COSM3750984;COSM3750985 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.001 0.784 D 0.21 0.430 B 0.126 0.474 B 0.043 0.238 N 0.046 0.810 P 2.9 0.842 M -2.48 0.891 D -3.82 0.720 D 0.106 0.112 -0.858 0.514 T 0.003 0.008 T . . . 2.866 0.405 21.7 0.995 0.707 0.685 0.336 D c -0.264 -0.348 0.997 0.353 0.554 0.283 0 -1.09 0.093 0.716 0.253 -1.041 0.020 0.341 0.255 0.398 0.254 4.613 0.117 Peptidase C2\x2c calpain\x2c catalytic domain . . 0.1470 0.1586 0.0529 0.1014 0.0760 0.2230 0.1405 0.1368 0.2684 0.1610 0.1676 0.0632 0.0894 0.0882 0.2195 0.1573 0.1759 het 542.90 53 1 230895340 . C A 542.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.504;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.18;MQ0=0;MQRankSum=0.839;QD=10.24;ReadPosRankSum=-0.370;VQSLOD=6.5441;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,22:53:99:573,0,850 1 230910339 230910339 G A exonic CAPN9 synonymous SNV CAPN9:NM_001319676:exon6:c.G726A:p.K242K,CAPN9:NM_006615:exon8:c.G915A:p.K305K 0.094 0.1 0.11 0.08 0.046 0.14 0.0693 0.0949 0.1067 0.0696 0.0405 0.0474 0.0727 0.1266 0.062 0.095 0.044 0.065 0.016 rs7517389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0696 0.0945 0.1032 0.0792 0.0688 0.0427 0.0457 0.0673 0.1242 0.0607 0.1004 0.0945 0.0662 0.0647 0.0470 0.0392 0.0459 het 1472.52 119 1 230910339 . G A 1472.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.506;DP=119;Dels=0.00;FS=0.690;HRun=2;HaplotypeScore=2.6639;MQ=59.22;MQ0=0;MQRankSum=-0.167;QD=12.37;ReadPosRankSum=-0.933;VQSLOD=6.5513;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1503,0,1635 1 230914729 230914729 A C exonic CAPN9 nonsynonymous SNV CAPN9:NM_001319676:exon7:c.A775C:p.K259Q,CAPN9:NM_016452:exon8:c.A886C:p.K296Q,CAPN9:NM_006615:exon9:c.A964C:p.K322Q 0.33 0.39 0.21 0.19 0.32 0.5 0.3374 0.3823 0.2105 0.1817 0.4137 0.3223 0.3420 0.5099 0.34 0.38 0.32 0.33 0.33 rs1933631 COSM3750987;COSM3750986 1(large_intestine) . . . . . . . . . . . 0.752 0.038 T 0.017 0.250 B 0.005 0.203 B 0.625 0.107 N 1 0.090 P -0.655 0.021 N 2.41 0.155 T 0.37 0.036 N 0.074 0.086 -0.971 0.369 T 0.000 0.000 T . . . -0.827 0.039 0.037 0.595 0.061 0.568 0.299 D c -1.386 -1.295 0.631 0.220 0.487 0.133 0 -3.49 0.044 1.527 0.354 1.199 0.960 0.992 0.373 0.439 0.261 2.078 0.034 Peptidase C2\x2c calpain\x2c catalytic domain ENSG00000135773.8|ENSG00000135773.8 Muscle_Skeletal|Thyroid 0.3277 0.3755 0.2058 0.3158 0.1827 0.4053 0.3188 0.3246 0.4989 0.3381 0.3705 0.2124 0.3278 0.1935 0.4093 0.3242 0.3573 het 860.02 60 1 230914729 . A C 860.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.753;DP=60;Dels=0.00;FS=1.025;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;MQRankSum=-0.321;QD=14.33;ReadPosRankSum=-0.052;VQSLOD=6.0831;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,34:60:99:890,0,665 1 231042732 231042732 T A exonic TTC13 synonymous SNV TTC13:NM_001122835:exon21:c.A2340T:p.V780V,TTC13:NM_024525:exon23:c.A2502T:p.V834V 0.52 0.42 0.66 0.54 0.53 0.5 0.5364 0.4029 0.7120 0.5319 0.6083 0.5275 0.5222 0.5056 0.48 0.41 0.52 0.45 0.6 rs3811502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5275 0.3888 0.6799 0.4316 0.5095 0.6013 0.5189 0.5210 0.4786 0.5177 0.3972 0.6543 0.4371 0.5075 0.6061 0.5594 0.5637 hom 1913.27 66 1 231042732 . T A 1913.27 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.63;MQ0=0;QD=28.99;VQSLOD=8.0323;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1946,147,0 1 231398511 231398511 A T exonic GNPAT nonsynonymous SNV GNPAT:NM_001316350:exon3:c.A298T:p.S100C,GNPAT:NM_014236:exon4:c.A481T:p.S161C . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.995 0.832 D 0.000 0.843 D 1 0.810 D 0.75 0.191 N -3.21 0.933 D -4.03 0.755 D 0.888 0.876 0.279 0.872 D 0.749 0.914 D 0.103 0.778 D 5.973 0.821 27.7 0.991 0.511 0.996 0.977 D c 0.432 0.509 1.000 0.747 0.732 0.924 0 5.65 0.868 9.325 0.960 1.199 0.960 1.000 0.715 0.984 0.507 15.884 0.789 Phospholipid/glycerol acyltransferase . . 4.063e-06 0 0 0 0 0 8.959e-06 0 0 . . . . . . . . het 1299.07 116 1 231398511 . A T 1299.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.007;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8151;MQ=58.90;MQ0=0;MQRankSum=1.853;QD=11.20;ReadPosRankSum=0.471;VQSLOD=3.7860;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,50:116:99:1329,0,1816 1 231401902 231401902 G A exonic GNPAT synonymous SNV GNPAT:NM_001316350:exon6:c.G732A:p.E244E,GNPAT:NM_014236:exon7:c.G915A:p.E305E 0.63 0.7 0.63 0.63 0.53 0.63 0.5676 0.6928 0.6236 0.5969 0.4392 0.5338 0.5585 0.6230 0.59 0.69 0.55 0.63 0.53 rs574553 COSM3750988 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Rhizomelic_chondrodysplasia_punctata RCV000245766.2|RCV000334462.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282529:ORPHA177:56692003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5687 0.6955 0.6135 0.6086 0.5950 0.4437 0.5394 0.5701 0.6252 0.5688 0.6918 0.6136 0.6192 0.6114 0.4498 0.5191 0.5317 het 2451.48 177 1 231401902 . G A 2451.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.178;DP=177;Dels=0.00;FS=13.134;HRun=1;HaplotypeScore=4.8086;MQ=58.61;MQ0=0;MQRankSum=-0.272;QD=13.85;ReadPosRankSum=0.481;VQSLOD=3.8476;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,94:177:99:2481,0,1977 1 231488524 231488524 C T exonic SPRTN nonsynonymous SNV SPRTN:NM_032018:exon5:c.C887T:p.P296L 0.53 0.44 0.52 0.52 0.65 0.55 0.5988 0.4535 0.4902 0.5722 0.6953 0.6430 0.6114 0.5619 0.58 0.47 0.64 0.41 0.6 rs2437150 . . . . . . . . . . . . . 0.293 0.148 T 0.0 0.026 B 0.0 0.013 B 0.514 0.118 N 1 0.090 P 0.73 0.189 N 0.99 0.418 T -1.04 0.273 N 0.082 0.075 -0.903 0.477 T 0.000 0.000 T . . . 0.053 0.099 3.111 0.269 0.013 0.165 0.192 N c -1.252 -1.235 0.997 0.348 0.707 0.730 0 1.26 0.204 0.149 0.159 -0.317 0.077 0.000 0.063 0.001 0.043 1.827 0.029 . ENSG00000010072.11|ENSG00000010072.11 Heart_Left_Ventricle|Testis 0.5980 0.4516 0.5065 0.5926 0.5762 0.6879 0.6427 0.6109 0.5550 0.5920 0.4543 0.5227 0.6490 0.5725 0.6947 0.6493 0.6478 hom 1733.25 49 1 231488524 . C T 1733.25 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.37;VQSLOD=14.2873;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1766,138,0 1 231830295 231830295 G A exonic DISC1 nonsynonymous SNV DISC1:NM_001012957:exon2:c.G791A:p.R264Q,DISC1:NM_001012958:exon2:c.G791A:p.R264Q,DISC1:NM_001012959:exon2:c.G791A:p.R264Q,DISC1:NM_001164537:exon2:c.G791A:p.R264Q,DISC1:NM_001164538:exon2:c.G791A:p.R264Q,DISC1:NM_001164539:exon2:c.G791A:p.R264Q,DISC1:NM_001164540:exon2:c.G791A:p.R264Q,DISC1:NM_001164541:exon2:c.G791A:p.R264Q,DISC1:NM_001164542:exon2:c.G791A:p.R264Q,DISC1:NM_001164544:exon2:c.G791A:p.R264Q,DISC1:NM_001164545:exon2:c.G791A:p.R264Q,DISC1:NM_001164546:exon2:c.G791A:p.R264Q,DISC1:NM_001164547:exon2:c.G791A:p.R264Q,DISC1:NM_001164548:exon2:c.G791A:p.R264Q,DISC1:NM_001164549:exon2:c.G791A:p.R264Q,DISC1:NM_001164550:exon2:c.G791A:p.R264Q,DISC1:NM_001164551:exon2:c.G791A:p.R264Q,DISC1:NM_001164552:exon2:c.G791A:p.R264Q,DISC1:NM_001164553:exon2:c.G791A:p.R264Q,DISC1:NM_001164554:exon2:c.G791A:p.R264Q,DISC1:NM_001164555:exon2:c.G791A:p.R264Q,DISC1:NM_018662:exon2:c.G791A:p.R264Q 0.23 0.12 0.33 0.22 0.34 0.22 0.2923 0.1398 0.3757 0.2432 0.2972 0.3147 0.3009 0.2631 0.26 0.15 0.32 0.15 0.32 rs3738401 . . not provided not_provided RCV000084637.1 MedGen CN221809 . . . . . . 0.39 0.112 T 0.001 0.274 B 0.001 0.121 B 0.093 0.025 N 1 0.090 P -0.865 0.015 N 1.84 0.247 T -0.11 0.087 N 0.03 0.022 -0.991 0.324 T 0.000 0.000 T . . . -0.853 0.038 0.033 0.823 0.136 0.007 0.030 N c -2.086 -2.153 1.000 0.747 0.554 0.283 0 -9.87 0.004 -1.132 0.033 -1.956 0.005 0.000 0.063 0.000 0.016 1.752 0.028 . ENSG00000162946.16|ENSG00000162946.16 Nerve_Tibial|Whole_Blood 0.2970 0.1370 0.3621 0.3030 0.2451 0.2879 0.3175 0.3177 0.2633 0.2536 0.1361 0.3532 0.2947 0.2481 0.2788 0.3056 0.3252 hom 2717.46 81 1 231830295 . G A 2717.46 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9652;MQ=58.42;MQ0=0;QD=33.55;VQSLOD=9.0051;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2750,217,0 1 232534957 232534957 T C exonic SIPA1L2 synonymous SNV SIPA1L2:NM_020808:exon21:c.A5085G:p.R1695R 0.4 0.26 0.47 0.74 0.27 0.34 0.3342 0.2542 0.5825 0.7388 0.2941 0.2551 0.3171 0.3340 0.25 0.25 0.25 0.34 0.26 rs12043251 COSM3750995;COSM3750994 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3443 0.2530 0.5596 0.2189 0.7395 0.2993 0.2566 0.2981 0.3322 0.2853 0.2540 0.4867 0.2067 0.7291 0.2934 0.2463 0.2541 hom 3166.23 99 1 232534957 . T C 3166.23 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.77;MQ0=0;QD=31.98;VQSLOD=9.3121;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3199,247,0 1 232568041 232568041 G A exonic SIPA1L2 nonsynonymous SNV SIPA1L2:NM_020808:exon14:c.C4208T:p.S1403L 0.062 0.013 0.13 0.04 0.099 0.064 0.0895 0.0269 0.1434 0.0373 0.1102 0.1009 0.0882 0.0615 0.076 0.03 0.097 0.054 0.074 rs1547742 COSM1340113;COSM4143520 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.018 0.512 D 0.93 0.622 P 0.101 0.444 B 0.171 0.174 N 0.192 0.369 P 1.95 0.526 M -1.25 0.791 T -2.02 0.465 N 0.252 0.440 -0.860 0.513 T 0.007 0.025 T . . . 3.918 0.528 23.5 0.998 0.919 0.962 0.680 D c 0.300 0.327 1.000 0.500 0.706 0.609 0 5.01 0.663 4.622 0.607 0.143 0.228 0.997 0.399 0.269 0.231 14.954 0.706 Rap GTPase activating protein domain . . 0.0927 0.0265 0.1348 0.1026 0.0372 0.1100 0.1017 0.0965 0.0616 0.0810 0.0265 0.1146 0.1523 0.0333 0.1069 0.1074 0.0978 het 817.04 61 1 232568041 . G A 817.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.922;DP=61;Dels=0.00;FS=6.141;HRun=1;HaplotypeScore=0.6651;MQ=59.62;MQ0=0;MQRankSum=-1.017;QD=13.39;ReadPosRankSum=1.190;VQSLOD=5.2362;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,31:61:99:847,0,704 1 232650750 232650750 A G exonic SIPA1L2 synonymous SNV SIPA1L2:NM_020808:exon1:c.T336C:p.S112S 0.84 0.99 0.84 0.5 0.95 0.84 0.8710 0.9864 0.7741 0.4609 0.8731 0.9296 0.8725 0.8463 0.95 0.98 0.93 0.9 0.89 rs3795366 COSM3997337 5(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8672 0.9872 0.7893 0.9259 0.4656 0.8740 0.9334 0.9056 0.8475 0.9058 0.9857 0.8222 0.9139 0.4763 0.8709 0.9193 0.8837 hom 8208.87 250 1 232650750 . A G 8208.87 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7653;MQ=59.65;MQ0=0;QD=32.84;VQSLOD=9.6541;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8208,668,0 1 232650867 232650867 C T exonic SIPA1L2 synonymous SNV SIPA1L2:NM_020808:exon1:c.G219A:p.K73K 0.56 0.46 0.64 0.33 0.8 0.61 0.6872 0.4925 0.5720 0.2973 0.7610 0.7895 0.6956 0.6435 0.71 0.51 0.8 0.6 0.71 rs4649383 COSM3746863 5(haematopoietic_and_lymphoid_tissue);1(liver);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6869 0.4899 0.5824 0.7547 0.2991 0.7623 0.7950 0.7233 0.6420 0.6708 0.4977 0.6005 0.7517 0.3151 0.7534 0.7889 0.7291 hom 6339.09 190 1 232650867 . C T 6339.09 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4610;MQ=58.64;MQ0=0;QD=33.36;VQSLOD=5.6336;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:6338,509,0 1 232940953 232940953 T C exonic MAP10 nonsynonymous SNV MAP10:NM_019090:exon1:c.T184C:p.S62P 0.12 0.19 0.084 0.14 0.057 0.098 0.0726 0.1893 0.0931 0.1403 0.0207 0.0452 0.0603 0.0863 0.089 0.18 0.047 0.11 . rs10797593 COSM146821 1(stomach) . . . . . . . . . . . 0.097 0.309 T . . . . . . . . . 1 0.090 P . . . . . . -0.23 0.107 N 0.035 0.015 -1.043 0.164 T 0.000 0.001 T . . . 0.075 0.101 3.346 0.973 0.328 0.044 0.098 N c -0.687 -0.894 1.000 0.747 0.407 0.055 2 0.208 0.144 -0.747 0.049 -0.103 0.116 0.000 0.063 0.001 0.043 2.071 0.034 . ENSG00000212916.3 Adipose_Subcutaneous 0.0714 0.1909 0.0890 0.0614 0.1438 0.0217 0.0462 0.0639 0.0844 0.0858 0.1834 0.0895 0.0695 0.1389 0.0226 0.0415 0.0356 het 2721.93 163 1 232940953 . T C 2721.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.258;DP=163;DS;Dels=0.00;FS=2.166;HRun=1;HaplotypeScore=2.9385;MQ=59.22;MQ0=0;MQRankSum=0.872;QD=16.70;ReadPosRankSum=-0.582;VQSLOD=6.1350;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,96:163:99:2752,0,1781 1 232941153 232941153 C T exonic MAP10 synonymous SNV MAP10:NM_019090:exon1:c.C384T:p.F128F 0.53 0.084 0.59 0.66 0.71 0.76 0.6537 0.1651 0.6029 0.6440 0.7247 0.6973 0.6842 0.7585 0.53 0.19 0.69 0.46 . rs12409898 COSM4143521;COSM4143522 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6534 0.1475 0.6033 0.6606 0.6443 0.7149 0.6961 0.6767 0.7575 0.5460 0.1602 0.5955 0.6589 0.6547 0.7116 0.7053 0.6998 het 156.75 24 1 232941153 . C T 156.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.908;DP=24;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.3670;MQ=60.00;MQ0=0;MQRankSum=-0.060;QD=6.53;ReadPosRankSum=-1.252;VQSLOD=5.0543;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,9:24:99:187,0,419 1 232941677 232941677 G T exonic MAP10 nonsynonymous SNV MAP10:NM_019090:exon1:c.G908T:p.R303L 0.13 0.25 0.085 0.14 0.052 0.095 0.0879 0.2737 0.1129 0.1643 0.0273 0.0514 0.0673 0.0941 0.096 0.2 0.044 0.13 . rs3766497 . . . . . . . . . . . . . 0.318 0.136 T 0.011 0.147 B 0.006 0.112 B 0.805 0.068 U 1 0.090 P 0.345 0.112 N . . . -1.26 0.318 N 0.073 0.062 -1.009 0.272 T 0.000 0.000 T . . . 0.521 0.144 7.588 0.819 0.135 0.052 0.109 N c -1.193 -1.176 1.000 0.747 0.267 0.040 1 0.452 0.158 -0.336 0.078 -0.408 0.061 0.000 0.063 0.000 0.016 4.239 0.100 . ENSG00000212916.3 Adipose_Subcutaneous 0.0729 0.2381 0.0897 0.0606 0.1439 0.0216 0.0437 0.0643 0.0838 0.0982 0.2311 0.0933 0.0695 0.1393 0.0223 0.0392 0.0356 het 175.54 22 1 232941677 . G T 175.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.974;DP=22;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8321;MQ=57.41;MQ0=0;MQRankSum=0.000;QD=7.98;ReadPosRankSum=0.211;VQSLOD=6.0673;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,7:22:99:206,0,359 1 232942251 232942251 A G exonic MAP10 synonymous SNV MAP10:NM_019090:exon1:c.A1482G:p.L494L 0.13 0.25 0.084 0.14 0.052 0.095 0.0752 0.2350 0.0935 0.1405 0.0195 0.0432 0.0615 0.0861 0.1 0.22 0.045 0.13 . rs12048236 COSM146822;COSM3997339 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0731 0.2349 0.0899 0.0604 0.1442 0.0204 0.0439 0.0645 0.0841 0.0976 0.2297 0.0931 0.0695 0.1383 0.0218 0.0391 0.0356 het 806.98 58 1 232942251 . A G 806.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.906;DP=58;Dels=0.00;FS=1.095;HRun=0;HaplotypeScore=2.6601;MQ=58.80;MQ0=0;MQRankSum=-0.303;QD=13.91;ReadPosRankSum=0.117;VQSLOD=6.3722;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,30:58:99:837,0,786 1 233122127 233122127 C T exonic PCNX2 nonsynonymous SNV PCNX2:NM_014801:exon33:c.G5951A:p.R1984Q 0.17 0.22 0.13 0.17 0.2 0.12 0.2576 0.2861 0.2 0.2580 0.3134 0.2778 0.2897 0.1782 0.23 0.23 0.24 0.18 . rs41309639 COSM5617813;COSM425603 1(breast) . . . . . . . . . . . 1.0 0.010 T 0.003 0.154 B 0.002 0.104 B 0.006 0.324 N 0.831 0.287 P 0.22 0.096 N 3.33 0.197 T 1.26 0.011 N 0.026 0.034 -0.956 0.399 T 0.000 0.000 T . . . 0.881 0.178 9.952 0.310 0.017 0.260 0.226 N c -0.900 -0.729 0.970 0.292 0.635 0.413 0 1.57 0.224 1.399 0.340 0.013 0.140 1.000 0.715 0.994 0.587 3.177 0.061 . ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.1979 0.2317 0.1289 0.1862 0.1966 0.2100 0.2277 0.2049 0.1477 0.2228 0.2377 0.1483 0.1921 0.1745 0.2111 0.2275 0.2118 het 240.81 15 1 233122127 . C T 240.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.184;DP=15;Dels=0.00;FS=2.515;HRun=0;HaplotypeScore=0.0000;MQ=56.85;MQ0=0;MQRankSum=-0.919;QD=16.05;ReadPosRankSum=1.531;VQSLOD=2.9692;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,10:15:99:271,0,142 1 233515413 233515413 G A exonic MAP3K21 synonymous SNV MAP3K21:NM_032435:exon9:c.G2661A:p.P887P 0.22 0.014 0.16 0.33 0.35 0.29 0.3063 0.0618 0.1606 0.3721 0.4416 0.3530 0.2905 0.2843 0.25 0.067 0.34 0.24 0.27 rs1402815 COSM3751004 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3061 0.0590 0.1719 0.2775 0.3724 0.4481 0.3517 0.3090 0.2811 0.2806 0.0655 0.1754 0.2781 0.4086 0.4392 0.3578 0.3316 hom 5293.87 169 1 233515413 . G A 5293.87 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3990;MQ=59.74;MQ0=0;QD=31.32;VQSLOD=8.8096;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5293,418,0 1 234041422 234041422 G C exonic SLC35F3 synonymous SNV SLC35F3:NM_173508:exon2:c.G201C:p.P67P 0.45 0.44 0.31 0.45 0.47 0.54 0.4853 0.4506 0.2770 0.4394 0.5135 0.5125 0.4823 0.5559 0.5 0.45 0.52 0.36 0.5 rs57010808 COSM3723590 1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4757 0.4562 0.2810 0.4097 0.4418 0.5161 0.5187 0.4535 0.5566 0.4992 0.4589 0.3103 0.4437 0.4570 0.5306 0.5301 0.5224 het 1957.75 156 1 234041422 . G C 1957.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.686;DP=156;Dels=0.00;FS=2.018;HRun=2;HaplotypeScore=1.8808;MQ=59.48;MQ0=0;MQRankSum=0.374;QD=12.55;ReadPosRankSum=1.055;VQSLOD=5.9862;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,80:156:99:1988,0,1978 1 234529552 234529552 C T exonic TARBP1 synonymous SNV TARBP1:NM_005646:exon27:c.G4275A:p.A1425A 0.51 0.62 0.57 0.49 0.44 0.4 0.4594 0.5903 0.5820 0.4994 0.4520 0.4300 0.4161 0.3946 0.49 0.59 0.43 0.51 0.43 rs2175594 COSM3997343 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4621 0.5904 0.5746 0.4223 0.5064 0.4446 0.4306 0.4498 0.3926 0.4826 0.5791 0.5513 0.3993 0.4881 0.4550 0.4332 0.4418 het 2681.64 201 1 234529552 . C T 2681.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.981;DP=201;DS;Dels=0.00;FS=4.821;HRun=0;HaplotypeScore=5.9218;MQ=59.49;MQ0=0;MQRankSum=-1.030;QD=13.34;ReadPosRankSum=0.380;VQSLOD=4.5630;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:99,101:201:99:2712,0,2434 1 234529570 234529570 G A exonic TARBP1 synonymous SNV TARBP1:NM_005646:exon27:c.C4257T:p.V1419V 0.5 0.61 0.57 0.49 0.43 0.4 0.4539 0.5762 0.5790 0.4992 0.4448 0.4243 0.4137 0.3911 0.47 0.57 0.43 0.48 0.43 rs2175593 COSM3751006 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4555 0.5720 0.5705 0.4102 0.5063 0.4388 0.4240 0.4429 0.3878 0.4748 0.5651 0.5456 0.3953 0.4887 0.4469 0.4279 0.4325 het 2139.66 163 1 234529570 . G A 2139.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.473;DP=163;DS;Dels=0.00;FS=5.126;HRun=1;HaplotypeScore=3.6820;MQ=59.37;MQ0=0;MQRankSum=-0.619;QD=13.13;ReadPosRankSum=1.004;VQSLOD=5.1657;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,80:163:99:2170,0,2364 1 234546245 234546245 C T exonic TARBP1 synonymous SNV TARBP1:NM_005646:exon23:c.G3738A:p.T1246T 0.34 0.21 0.38 0.4 0.39 0.36 0.3638 0.2315 0.3770 0.4190 0.3498 0.3815 0.3497 0.3416 0.34 0.24 0.39 0.33 0.31 rs1141264 COSM3751007 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3571 0.2207 0.3421 0.3910 0.4072 0.3468 0.3794 0.3552 0.3259 0.3455 0.2356 0.3720 0.4272 0.4413 0.3539 0.3928 0.3646 het 880.19 111 1 234546245 . C T 880.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.820;DP=111;Dels=0.00;FS=2.554;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;MQRankSum=-0.781;QD=7.93;ReadPosRankSum=-0.158;VQSLOD=5.3080;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,39:111:99:910,0,1728 1 234582651 234582651 T C exonic TARBP1 nonsynonymous SNV TARBP1:NM_005646:exon12:c.A2032G:p.S678G 0.3 0.31 0.38 0.3 0.29 0.25 0.2991 0.3323 0.4333 0.3146 0.3066 0.2782 0.3194 0.2566 0.29 0.33 0.27 0.14 0.3 rs4920246 COSM3997345 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1 0.090 P -2.015 0.002 N 3.51 0.050 T 1.18 0.011 N 0.039 0.019 -0.924 0.450 T 0.000 0.000 T . . . -0.978 0.033 0.018 0.135 0.003 0.009 0.036 N c -1.289 -1.109 0.006 0.111 0.737 0.974 0 4.29 0.502 1.841 0.386 -0.320 0.077 0.933 0.321 0.040 0.157 9.307 0.369 . . . 0.3050 0.3302 0.4371 0.2858 0.3104 0.3057 0.2743 0.3087 0.2620 0.2944 0.3362 0.4159 0.2815 0.3364 0.2816 0.2638 0.2679 het 2293.52 173 1 234582651 . T C 2293.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.570;DP=173;Dels=0.00;FS=1.189;HRun=1;HaplotypeScore=6.4328;MQ=59.36;MQ0=0;MQRankSum=0.723;QD=13.26;ReadPosRankSum=-0.693;VQSLOD=4.6688;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,90:173:99:2324,0,2343 1 234584231 234584231 C T exonic TARBP1 synonymous SNV TARBP1:NM_005646:exon11:c.G1956A:p.Q652Q 0.29 0.26 0.37 0.3 0.29 0.25 0.2921 0.2871 0.4289 0.3130 0.2978 0.2746 0.3139 0.2562 0.27 0.28 0.27 0.27 0.25 rs2102596 COSM3997346 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2993 0.2855 0.4340 0.2859 0.3098 0.2973 0.2708 0.3055 0.2614 0.2786 0.2906 0.4125 0.2815 0.3362 0.2758 0.2596 0.2633 het 847.72 99 1 234584231 . C T 847.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.448;DP=99;Dels=0.00;FS=1.775;HRun=1;HaplotypeScore=2.5275;MQ=58.39;MQ0=0;MQRankSum=1.197;QD=8.56;ReadPosRankSum=1.778;VQSLOD=4.9584;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,36:99:99:878,0,1667 1 234603322 234603322 A T exonic TARBP1 nonsynonymous SNV TARBP1:NM_005646:exon4:c.T1174A:p.S392T 0.17 0.098 0.21 0.26 0.036 0.27 0.1060 0.0925 0.2592 0.2528 0.0923 0.0373 0.1040 0.2129 0.056 0.09 0.038 0.18 0.016 rs60079444 COSM3997347 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.338 N 1 0.090 P -1.905 0.002 N 3.55 0.048 T 0.79 0.019 N 0.023 0.006 -0.937 0.431 T 0.000 0.000 T . . . 0.533 0.145 7.677 0.296 0.016 0.094 0.150 N c -0.849 -0.594 0.048 0.147 0.732 0.924 0 2.75 0.313 1.262 0.324 -0.219 0.097 0.999 0.424 0.997 0.653 4.429 0.109 . . . 0.1064 0.0912 0.2422 0.0367 0.2410 0.0885 0.0350 0.0870 0.2024 0.0752 0.0885 0.2093 0.0364 0.2218 0.0979 0.0378 0.1049 het 600.40 44 1 234603322 . A T 600.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.400;DP=44;Dels=0.00;FS=2.788;HRun=0;HaplotypeScore=1.9907;MQ=58.08;MQ0=0;MQRankSum=1.327;QD=13.65;ReadPosRankSum=-0.037;VQSLOD=4.6166;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,23:44:99:630,0,530 1 234603386 234603386 G T exonic TARBP1 synonymous SNV TARBP1:NM_005646:exon4:c.C1110A:p.L370L 0.12 0.1 0.14 . 0.31 0.073 0.2422 0.1436 0.1256 0.0018 0.3410 0.3167 0.2755 0.1567 0.25 0.14 0.3 0.12 0.22 rs270502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2312 0.1346 0.1311 0.2016 0.0010 0.3320 0.3059 0.2416 0.1337 0.2469 0.1345 0.1699 0.2119 0.0031 0.3121 0.3274 0.2633 het 192.28 28 1 234603386 . G T 192.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.810;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=6.87;ReadPosRankSum=0.517;VQSLOD=10.3493;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,11:28:99:222,0,467 1 234606998 234606998 A G exonic TARBP1 synonymous SNV TARBP1:NM_005646:exon3:c.T1035C:p.H345H 0.29 0.12 0.25 0.75 0.049 0.35 0.1655 0.1167 0.3049 0.7537 0.1361 0.0468 0.1537 0.2762 0.068 0.11 0.046 0.24 0.016 rs3754307 COSM4143533 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1605 0.1140 0.2722 0.0472 0.7550 0.1349 0.0432 0.1252 0.2720 0.1212 0.1095 0.2482 0.0397 0.7565 0.1454 0.0478 0.1347 het 945.06 85 1 234606998 . A G 945.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.244;DP=85;Dels=0.00;FS=2.906;HRun=0;HaplotypeScore=0.8321;MQ=59.29;MQ0=0;MQRankSum=-0.049;QD=11.12;ReadPosRankSum=-1.518;VQSLOD=6.3200;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,44:85:99:975,0,864 1 235383188 235383188 A G exonic ARID4B synonymous SNV ARID4B:NM_001206794:exon16:c.T1503C:p.D501D,ARID4B:NM_016374:exon16:c.T1503C:p.D501D,ARID4B:NM_031371:exon16:c.T1503C:p.D501D 0.45 0.44 0.51 0.25 0.48 0.6 0.4778 0.4612 0.5688 0.2541 0.5005 0.4587 0.5066 0.6083 0.47 0.48 0.46 0.49 0.43 rs4659654 COSM425633 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4785 0.4620 0.5521 0.4466 0.2444 0.4982 0.4610 0.4777 0.6005 0.4589 0.4658 0.5490 0.4404 0.2364 0.4922 0.4652 0.4786 hom 2802.31 92 1 235383188 . A G 2802.31 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4385;MQ=58.68;MQ0=0;QD=30.46;VQSLOD=9.2249;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2835,223,0 1 235392546 235392546 T C exonic ARID4B synonymous SNV ARID4B:NM_001206794:exon11:c.A897G:p.E299E,ARID4B:NM_016374:exon11:c.A897G:p.E299E,ARID4B:NM_031371:exon11:c.A897G:p.E299E 0.45 0.43 0.51 0.25 0.48 0.6 0.4783 0.4539 0.5697 0.2547 0.5012 0.4597 0.5044 0.6099 0.46 0.47 0.46 0.49 0.4 rs12731746 COSM3997348 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4807 0.4587 0.5575 0.4487 0.2498 0.4986 0.4626 0.4785 0.6057 0.4566 0.4571 0.5490 0.4404 0.2379 0.4934 0.4648 0.4806 hom 2290.84 68 1 235392546 . T C 2290.84 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.36;MQ0=0;QD=33.69;VQSLOD=9.5339;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2324,178,0 1 235652513 235652513 T C exonic B3GALNT2 synonymous SNV B3GALNT2:NM_152490:exon3:c.A321G:p.E107E,B3GALNT2:NM_001277155:exon4:c.A444G:p.E148E 0.68 0.59 0.71 0.84 0.51 0.78 0.5840 0.5653 0.7741 0.8609 0.4766 0.4932 0.5628 0.7282 0.52 0.56 0.5 0.71 0.5 rs291396 COSM4143540 1(thyroid) Benign not_specified RCV000248064.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5890 0.5703 0.7561 0.5106 0.8631 0.4743 0.4940 0.5534 0.7218 0.5354 0.5707 0.7005 0.4669 0.8606 0.4693 0.4878 0.5307 het 2205.11 195 1 235652513 . T C 2205.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.131;DP=195;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9638;MQ=59.22;MQ0=0;MQRankSum=-0.587;QD=11.31;ReadPosRankSum=0.159;VQSLOD=6.0849;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:105,90:195:99:2235,0,2803 1 235715523 235715523 A G exonic GNG4 synonymous SNV GNG4:NM_004485:exon3:c.T114C:p.A38A,GNG4:NM_001098721:exon4:c.T114C:p.A38A,GNG4:NM_001098722:exon4:c.T114C:p.A38A 0.63 0.59 0.66 0.84 0.49 0.59 0.5815 0.5977 0.7144 0.8604 0.6165 0.5181 0.5782 0.5747 0.54 0.6 0.51 0.65 0.52 rs14326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5852 0.5944 0.6972 0.4280 0.8603 0.6245 0.5170 0.5442 0.5787 0.5870 0.5998 0.6483 0.4503 0.8700 0.6147 0.5426 0.5745 hom 5885.84 177 1 235715523 . A G 5885.84 Mask AC=2;AF=1.00;AN=2;DP=177;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=59.61;MQ0=0;QD=33.25;VQSLOD=9.5222;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5885,469,0 1 235940450 235940450 C T exonic LYST synonymous SNV LYST:NM_000081:exon17:c.G5373A:p.K1791K,LYST:NM_001301365:exon17:c.G5373A:p.K1791K 0.3 0.49 0.3 0.066 0.43 0.16 0.3483 0.4968 0.2727 0.0604 0.4280 0.4046 0.3455 0.1993 0.44 0.51 0.4 0.32 0.3 rs2273584 COSM3746866 1(liver) Benign|Benign not_specified|Chédiak-Higashi_syndrome RCV000246380.1|RCV000308180.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0007965:214500:ORPHA167:111396008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3442 0.5016 0.2772 0.3649 0.0588 0.4349 0.4053 0.3618 0.2020 0.4193 0.5043 0.3170 0.3533 0.0509 0.4495 0.4119 0.3840 het 1187.22 103 1 235940450 . C T 1187.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.222;DP=103;Dels=0.00;FS=0.772;HRun=3;HaplotypeScore=2.6598;MQ=59.33;MQ0=0;MQRankSum=-0.030;QD=11.53;ReadPosRankSum=-0.513;VQSLOD=6.3845;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,47:103:99:1217,0,1605 1 235945294 235945294 T C exonic LYST synonymous SNV LYST:NM_000081:exon15:c.A4956G:p.L1652L,LYST:NM_001301365:exon15:c.A4956G:p.L1652L 0.3 0.49 0.3 0.066 0.43 0.18 0.3501 0.4976 0.2738 0.0605 0.4285 0.4055 0.3466 0.2059 0.44 0.51 0.4 0.32 0.3 rs6696123 COSM3746867 1(liver) Benign|Benign not_specified|Chédiak-Higashi_syndrome RCV000253208.1|RCV000398616.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0007965:214500:ORPHA167:111396008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3453 0.5024 0.2775 0.3666 0.0588 0.4352 0.4056 0.3631 0.2078 0.4199 0.5056 0.3150 0.3543 0.0509 0.4508 0.4122 0.3847 het 1020.64 90 1 235945294 . T C 1020.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.825;DP=90;Dels=0.00;FS=0.796;HRun=0;HaplotypeScore=6.8738;MQ=57.42;MQ0=0;MQRankSum=0.519;QD=11.34;ReadPosRankSum=-0.753;VQSLOD=4.3960;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,41:90:99:1051,0,1138 1 235972435 235972435 T C exonic LYST synonymous SNV LYST:NM_000081:exon5:c.A1683G:p.L561L,LYST:NM_001301365:exon5:c.A1683G:p.L561L 0.3 0.49 0.3 0.067 0.42 0.17 0.3499 0.4977 0.2742 0.0602 0.4284 0.4054 0.3466 0.2054 0.44 0.51 0.4 0.29 0.3 rs3820553 COSM3746868 1(breast);1(liver) Benign|Benign not_specified|Chédiak-Higashi_syndrome RCV000243167.1|RCV000369958.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0007965:214500:ORPHA167:111396008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3455 0.5028 0.2781 0.3652 0.0588 0.4355 0.4060 0.3644 0.2076 0.4199 0.5051 0.3162 0.3543 0.0514 0.4499 0.4125 0.3852 het 1739.06 150 1 235972435 . T C 1739.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.021;DP=150;Dels=0.01;FS=2.955;HRun=0;HaplotypeScore=1.6545;MQ=59.06;MQ0=1;MQRankSum=-0.051;QD=11.52;ReadPosRankSum=-0.134;VQSLOD=6.6324;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,66:150:99:1769,0,2191 1 235972867 235972867 T C exonic LYST synonymous SNV LYST:NM_000081:exon5:c.A1251G:p.Q417Q,LYST:NM_001301365:exon5:c.A1251G:p.Q417Q 0.3 0.49 0.3 0.066 0.43 0.17 0.3500 0.5 0.2741 0.0601 0.4285 0.4055 0.3466 0.2055 0.44 0.51 0.4 0.32 0.3 rs1063128 COSM3746869 1(liver) Benign|Benign not_specified|Chédiak-Higashi_syndrome RCV000246231.1|RCV000271690.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0007965:214500:ORPHA167:111396008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3455 0.5033 0.2780 0.3653 0.0587 0.4355 0.4061 0.3645 0.2076 0.4197 0.5041 0.3170 0.3543 0.0508 0.4499 0.4128 0.3855 het 1312.11 105 1 235972867 . T C 1312.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.599;DP=105;Dels=0.00;FS=6.230;HRun=0;HaplotypeScore=1.9981;MQ=59.17;MQ0=0;MQRankSum=-0.445;QD=12.50;ReadPosRankSum=0.298;VQSLOD=5.4043;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,52:105:99:1342,0,1515 1 236175339 236175339 T C exonic NID1 synonymous SNV NID1:NM_002508:exon12:c.A2409G:p.V803V 0.7 0.8 0.64 0.77 0.5 0.73 0.5915 0.7652 0.7036 0.7648 0.6244 0.5015 0.5774 0.6634 0.59 0.76 0.5 0.71 0.54 rs2031487 COSM3746870 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5900 0.7674 0.6895 0.4372 0.7652 0.6231 0.4988 0.5398 0.6587 0.6205 0.7529 0.6523 0.3742 0.7710 0.6312 0.5293 0.6 hom 2902.17 79 1 236175339 . T C 2902.17 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7987;MQ=58.94;MQ0=0;QD=36.74;VQSLOD=9.2894;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2935,235,0 1 236413230 236413230 T A exonic ERO1B nonsynonymous SNV ERO1B:NM_019891:exon5:c.A386T:p.D129V 0.34 0.14 0.36 0.13 0.6 0.52 0.4791 0.1830 0.2851 0.1208 0.5240 0.5871 0.5188 0.5317 0.46 0.19 0.6 0.29 0.52 rs2477599 COSM3751015 1(large_intestine) . . . . . . . . . . . 0.097 0.453 T 0.92 0.490 P 0.491 0.455 P 0.000 0.497 D 0.000 0.588 P 1.91 0.513 L -1.59 0.821 D -3.46 0.734 D 0.17 0.635 -0.890 0.490 T 0.000 0.000 T . . . 4.121 0.553 23.8 0.990 0.494 0.939 0.594 D c -0.056 0.041 0.043 0.146 0.732 0.924 0 4.72 0.591 4.380 0.591 0.079 0.188 1.000 0.715 0.834 0.348 11.204 0.478 . ENSG00000086619.9|ENSG00000086619.9|ENSG00000086619.9|ENSG00000086619.9|ENSG00000086619.9 Adrenal_Gland|Artery_Aorta|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Muscle_Skeletal 0.4737 0.1717 0.2927 0.6061 0.1164 0.5243 0.5871 0.5034 0.5215 0.4273 0.1818 0.3693 0.5993 0.1306 0.5222 0.5749 0.5051 hom 2323.71 88 1 236413230 . T A 2323.71 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7340;MQ=58.29;MQ0=0;QD=26.41;VQSLOD=7.2865;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2357,175,0 1 236557771 236557771 G A exonic EDARADD nonsynonymous SNV EDARADD:NM_145861:exon1:c.G27A:p.M9I 0.78 0.47 0.86 0.92 0.82 0.94 0.8308 0.5333 0.9129 0.9191 0.8096 0.8328 0.8499 0.9138 0.74 0.54 0.84 0.72 0.85 rs966365 COSM3746871 1(liver) Benign|Benign not_specified|Hypohidrotic_Ectodermal_Dysplasia\x2c_Recessive RCV000249322.1|RCV000262285.1 MedGen|MedGen CN169374|CN239465 . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B 0.683 0.102 U 1 0.090 P 1.845 0.488 L -0.73 0.731 T -0.36 0.131 N 0.061 0.045 -0.991 0.323 T 0.000 0.000 T . . . 0.075 0.101 3.346 0.907 0.194 0.036 0.088 N c -0.993 -1.045 1.000 0.747 0.455 0.088 0 1.33 0.209 -0.069 0.114 -0.442 0.057 0.000 0.063 0.001 0.043 3.147 0.060 . . . 0.8412 0.5350 0.9075 0.8500 0.9192 0.8153 0.8363 0.8363 0.9122 0.7534 0.5436 0.8735 0.8576 0.9025 0.8175 0.8304 0.8279 hom 4755.02 159 1 236557771 . G A 4755.02 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=1;QD=29.72;VQSLOD=8.9978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:159:99:4755,364,0 1 236700807 236700807 T A exonic LGALS8 nonsynonymous SNV LGALS8:NM_201544:exon3:c.T56A:p.F19Y,LGALS8:NM_006499:exon4:c.T56A:p.F19Y,LGALS8:NM_201543:exon4:c.T56A:p.F19Y,LGALS8:NM_201545:exon4:c.T56A:p.F19Y 0.5 0.44 0.51 0.48 0.68 0.41 0.6102 0.4866 0.5158 0.4872 0.7342 0.6833 0.6044 0.4741 0.62 0.49 0.68 0.53 0.63 rs1126407 COSM146350 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.076 T 0.0 0.067 B 0.002 0.154 B 0.000 0.559 N 1.000 0.182 P -0.725 0.018 N 2.74 0.117 T -0.29 0.117 N 0.106 0.271 -0.982 0.346 T 0.000 0.000 T . . . 1.435 0.235 12.97 0.771 0.114 0.251 0.224 N c -0.749 -0.498 0.922 0.267 0.732 0.924 0 5.45 0.796 2.107 0.412 0.200 0.252 1.000 0.715 0.959 0.439 10.591 0.443 Concanavalin A-like lectin/glucanase domain|Galectin\x2c carbohydrate recognition domain ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000273058.1|ENSG00000116977.14 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.6120 0.4868 0.5333 0.6019 0.4856 0.7376 0.6865 0.6189 0.4716 0.6281 0.4934 0.5346 0.5993 0.5031 0.7428 0.6957 0.6779 hom 2018.77 71 1 236700807 . T A 2018.77 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.68;MQ0=0;QD=28.43;VQSLOD=7.9008;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2052,162,0 1 236700823 236700823 T C exonic LGALS8 synonymous SNV LGALS8:NM_201544:exon3:c.T72C:p.P24P,LGALS8:NM_006499:exon4:c.T72C:p.P24P,LGALS8:NM_201543:exon4:c.T72C:p.P24P,LGALS8:NM_201545:exon4:c.T72C:p.P24P 0.5 0.45 0.51 0.48 0.68 0.41 0.6100 0.4868 0.5151 0.4878 0.7343 0.6831 0.6053 0.4731 0.62 0.49 0.68 0.5 0.63 rs1041934 COSM146830 2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6121 0.4870 0.5336 0.6016 0.4860 0.7377 0.6866 0.6191 0.4717 0.6282 0.4938 0.5346 0.5993 0.5037 0.7427 0.6957 0.6765 hom 2266.51 76 1 236700823 . T C 2266.51 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=29.82;VQSLOD=8.6587;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2300,175,0 1 236700857 236700857 C T exonic LGALS8 nonsynonymous SNV LGALS8:NM_201544:exon3:c.C106T:p.R36C,LGALS8:NM_006499:exon4:c.C106T:p.R36C,LGALS8:NM_201543:exon4:c.C106T:p.R36C,LGALS8:NM_201545:exon4:c.C106T:p.R36C 0.5 0.45 0.51 0.48 0.68 0.41 0.6105 0.4864 0.5167 0.4884 0.7351 0.6834 0.6067 0.4735 0.62 0.49 0.68 0.52 0.64 rs1041935 COSM146351 3(haematopoietic_and_lymphoid_tissue);1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.061 0.371 T 0.04 0.335 B 0.018 0.259 B 0.000 0.629 D 0.000 0.588 P 2.455 0.715 M 3.36 0.117 T -3.92 0.817 D 0.225 0.420 -1.013 0.259 T 0.000 0.000 T . . . 5.441 0.738 26.1 0.998 0.855 0.964 0.687 D c 0.220 0.319 1.000 0.747 0.732 0.924 0 5.45 0.796 5.543 0.667 0.892 0.403 1.000 0.715 0.815 0.341 19.471 0.949 Concanavalin A-like lectin/glucanase domain|Galectin\x2c carbohydrate recognition domain ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000273058.1|ENSG00000116977.14 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.6122 0.4868 0.5339 0.6015 0.4860 0.7379 0.6866 0.6193 0.4718 0.6289 0.4944 0.5346 0.5967 0.5037 0.7428 0.6966 0.6797 hom 2611.64 87 1 236700857 . C T 2611.64 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;QD=30.02;VQSLOD=8.0228;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2645,205,0 1 236702209 236702209 C T exonic LGALS8 synonymous SNV LGALS8:NM_201544:exon4:c.C165T:p.S55S,LGALS8:NM_006499:exon5:c.C165T:p.S55S,LGALS8:NM_201543:exon5:c.C165T:p.S55S,LGALS8:NM_201545:exon5:c.C165T:p.S55S 0.42 0.22 0.46 0.47 0.6 0.4 0.5463 0.2863 0.4797 0.4810 0.6534 0.6197 0.5486 0.4527 0.48 0.28 0.58 . 0.33 rs1041936 COSM146831 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(autonomic_ganglia);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5532 0.2878 0.4990 0.5293 0.4820 0.6563 0.6258 0.5555 0.4538 0.5274 0.2925 0.4964 0.5099 0.4950 0.6665 0.6315 0.6196 hom 1981.07 70 1 236702209 . C T 1981.07 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.681;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5812;MQ=57.42;MQ0=0;MQRankSum=1.376;QD=28.30;ReadPosRankSum=0.815;VQSLOD=5.9559;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,69:70:99:2014,171,0 1 236702210 236702210 A G exonic LGALS8 nonsynonymous SNV LGALS8:NM_201544:exon4:c.A166G:p.M56V,LGALS8:NM_006499:exon5:c.A166G:p.M56V,LGALS8:NM_201543:exon5:c.A166G:p.M56V,LGALS8:NM_201545:exon5:c.A166G:p.M56V 0.63 0.67 0.63 0.66 0.7 0.48 0.6754 0.6807 0.6306 0.6336 0.7424 0.7159 0.6634 0.5362 0.7 0.68 0.71 0.27 0.41 rs1041937 COSM146352 1(haematopoietic_and_lymphoid_tissue);1(stomach);3(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.087 T 0.0 0.026 B 0.0 0.040 B 0.617 0.108 N 1.000 0.588 P -1.5 0.005 N 3.53 0.049 T 0.93 0.022 N 0.001 0.283 -0.993 0.319 T 0.000 0.000 T . . . 0.060 0.099 3.187 0.702 0.089 0.091 0.148 N c -1.179 -1.010 0.158 0.176 0.707 0.730 0 1.99 0.253 -0.115 0.106 -0.417 0.060 0.000 0.063 0.776 0.329 4.361 0.106 Concanavalin A-like lectin/glucanase domain|Galectin\x2c carbohydrate recognition domain ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Testis 0.6784 0.6795 0.6480 0.6754 0.6329 0.7488 0.7187 0.6908 0.5385 0.7095 0.6823 0.6523 0.6623 0.6382 0.7574 0.7252 0.7184 hom 2128.16 68 1 236702210 . A G 2128.16 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5812;MQ=57.34;MQ0=0;QD=31.30;VQSLOD=5.7243;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2161,174,0 1 236702374 236702374 G A exonic LGALS8 synonymous SNV LGALS8:NM_201544:exon4:c.G330A:p.L110L,LGALS8:NM_006499:exon5:c.G330A:p.L110L,LGALS8:NM_201543:exon5:c.G330A:p.L110L,LGALS8:NM_201545:exon5:c.G330A:p.L110L 0.43 0.27 0.46 0.48 0.62 0.39 0.5585 0.3274 0.4851 0.4869 0.6867 0.6305 0.5520 0.4508 0.57 0.41 0.65 0.48 0.61 rs2472126 COSM3751017 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5626 0.3283 0.5013 0.5159 0.4837 0.6848 0.6362 0.5618 0.4507 0.5491 0.3307 0.4940 0.5066 0.5012 0.6932 0.6461 0.6303 hom 2355.11 83 1 236702374 . G A 2355.11 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=57.74;MQ0=0;QD=28.37;VQSLOD=7.1644;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2388,184,0 1 236706862 236706862 G C exonic LGALS8 nonsynonymous SNV LGALS8:NM_201544:exon8:c.G552C:p.R184S,LGALS8:NM_201543:exon9:c.G552C:p.R184S,LGALS8:NM_006499:exon10:c.G678C:p.R226S,LGALS8:NM_201545:exon10:c.G678C:p.R226S 0.68 0.7 0.76 0.69 0.74 0.51 0.7188 0.7169 0.7761 0.6589 0.7695 0.7474 0.7080 0.5758 0.74 0.72 0.75 0.77 0.68 rs2243525 COSM4416687 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.023 T 0.0 0.026 B 0.0 0.013 B 0.023 0.265 N 1 0.090 P 0 0.065 N 2.83 0.108 T 1.43 0.008 N 0.045 0.159 -1.044 0.160 T 0.000 0.000 T . . . -0.096 0.085 1.763 0.746 0.104 0.029 0.077 N c -1.223 -1.169 0.997 0.354 0.722 0.854 0 -2.97 0.052 -1.606 0.022 -0.331 0.074 0.000 0.063 0.869 0.363 2.282 0.038 Concanavalin A-like lectin/glucanase domain;Concanavalin A-like lectin/glucanase domain|Galectin\x2c carbohydrate recognition domain ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.7236 0.7146 0.7832 0.6847 0.6556 0.7727 0.7500 0.7354 0.5802 0.7411 0.7197 0.7745 0.6779 0.6652 0.7802 0.7516 0.7464 hom 2833.95 92 1 236706862 . G C 2833.95 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8129;MQ=58.56;MQ0=0;QD=30.80;VQSLOD=7.0594;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,91:92:99:2867,226,0 1 236711323 236711323 T C exonic LGALS8 synonymous SNV LGALS8:NM_201544:exon10:c.T816C:p.Y272Y,LGALS8:NM_201543:exon11:c.T816C:p.Y272Y,LGALS8:NM_006499:exon12:c.T942C:p.Y314Y,LGALS8:NM_201545:exon12:c.T942C:p.Y314Y 0.5 0.44 0.51 0.48 0.68 0.41 0.6105 0.4863 0.5165 0.4911 0.7343 0.6839 0.6040 0.4710 0.62 0.49 0.68 0.63 0.65 rs15701 COSM3997354 1(breast);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6124 0.4866 0.5337 0.6032 0.4878 0.7377 0.687 0.6191 0.4707 0.6289 0.4940 0.5346 0.61 0.5037 0.7431 0.6965 0.6765 hom 2788.66 82 1 236711323 . T C 2788.66 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;QD=34.01;VQSLOD=9.6929;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2822,220,0 1 236716959 236716959 C T exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon43:c.G6159A:p.S2053S 0.48 0.39 0.51 0.48 0.68 0.41 0.6055 0.4302 0.5151 0.4906 0.7349 0.6839 0.6024 0.4707 0.6 0.44 0.68 0.6 0.64 rs2275685 COSM146832 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6089 0.4329 0.5317 0.6030 0.4871 0.7379 0.6871 0.6175 0.4712 0.6133 0.4401 0.5359 0.6060 0.4994 0.7430 0.6961 0.6731 hom 4007.30 123 1 236716959 . C T 4007.30 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8519;MQ=59.27;MQ0=0;QD=32.58;VQSLOD=9.4596;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4007,310,0 1 236717926 236717926 T C exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon42:c.A6050G:p.E2017G 0.48 0.39 0.51 0.48 0.68 0.41 0.6056 0.4306 0.5149 0.4907 0.7340 0.6842 0.6035 0.4709 0.6 0.44 0.68 0.61 0.64 rs2275687 COSM3751018 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.013 0.538 D 0.0 0.670 B 0.0 0.602 B 0.000 0.843 D 0.000 0.588 P 1.555 0.395 L -0.29 0.677 T -4.8 0.806 D 0.196 0.358 -0.855 0.517 T 0.000 0.000 T . . . 5.291 0.716 25.7 0.998 0.868 0.986 0.840 D c 0.456 0.537 1.000 0.747 0.732 0.924 0 5.65 0.868 7.278 0.778 1.061 0.807 1.000 0.715 0.999 0.750 16.040 0.804 Armadillo-like helical|Armadillo-type fold;Armadillo-type fold ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000273058.1|ENSG00000116977.14 Adipose_Subcutaneous|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.6097 0.4331 0.5321 0.6035 0.4874 0.7377 0.6873 0.6176 0.4723 0.6135 0.4402 0.5346 0.6060 0.4988 0.7431 0.6970 0.6724 hom 2869.28 94 1 236717926 . T C 2869.28 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=30.52;VQSLOD=8.9965;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2902,223,0 1 236718620 236718620 T C exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon41:c.A5899G:p.N1967D 0.48 0.39 0.51 0.48 0.68 0.41 0.6058 0.4302 0.5150 0.4910 0.7340 0.6843 0.6035 0.4718 0.6 0.44 0.68 0.61 0.56 rs1126627 COSM3751019 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.36 0.119 T 0.0 0.346 B 0.001 0.303 B 0.000 0.629 D 0.015 0.402 P 0.385 0.122 N 0.99 0.418 T -0.5 0.158 N 0.031 0.023 -1.018 0.243 T 0.000 0.000 T . . . 2.103 0.314 16.87 0.809 0.129 0.940 0.595 D c -0.100 0.085 0.832 0.247 0.707 0.730 0 5.3 0.746 2.386 0.438 1.061 0.807 1.000 0.715 0.996 0.625 15.408 0.745 BP28\x2c C-terminal domain ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000273058.1|ENSG00000116977.14 Adipose_Subcutaneous|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.6091 0.4333 0.5326 0.6038 0.4878 0.7378 0.6871 0.6175 0.4719 0.6133 0.4395 0.5346 0.6060 0.4994 0.7430 0.6969 0.6748 hom 6648.54 203 1 236718620 . T C 6648.54 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.303;DP=203;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.0769;MQ=59.27;MQ0=0;MQRankSum=0.823;QD=32.75;ReadPosRankSum=-1.115;VQSLOD=7.0365;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,202:203:99:6616,495,0 1 236719135 236719135 T C exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon39:c.A5619G:p.E1873E 0.87 0.88 0.88 0.96 0.8 0.84 0.8414 0.8756 0.9182 0.9619 0.8442 0.8107 0.8117 0.8276 0.84 0.88 0.82 0.89 0.76 rs1885532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8441 0.8758 0.9132 0.7567 0.9579 0.8489 0.8132 0.8263 0.8293 0.8467 0.8739 0.8950 0.7649 0.9649 0.8482 0.8173 0.8360 hom 5703.65 167 1 236719135 . T C 5703.65 Mask AC=2;AF=1.00;AN=2;DP=167;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5757;MQ=58.86;MQ0=0;QD=34.15;VQSLOD=9.6581;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5703,448,0 1 236719193 236719193 A G exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon39:c.T5561C:p.V1854A 0.48 0.39 0.51 0.48 0.68 0.41 0.6055 0.4303 0.5148 0.4902 0.7340 0.6842 0.6035 0.4708 0.6 0.44 0.68 0.61 0.63 rs1885533 COSM3751020 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.906 0.024 T 0.0 0.090 B 0.0 0.093 B 0.062 0.221 N 1.000 0.090 P 1.79 0.469 L -0.09 0.641 T 0.36 0.037 N 0.025 0.010 -0.925 0.448 T 0.000 0.000 T . . . 1.234 0.214 11.92 0.805 0.128 0.261 0.227 N c -0.662 -0.547 0.010 0.120 0.707 0.730 0 2.76 0.314 1.276 0.325 0.237 0.263 0.051 0.212 0.842 0.351 6.413 0.208 Armadillo-like helical|Armadillo-type fold;Armadillo-type fold ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000273058.1|ENSG00000116977.14 Adipose_Subcutaneous|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.6090 0.4330 0.5325 0.6037 0.4871 0.7378 0.6872 0.6176 0.4718 0.6130 0.4396 0.5335 0.6060 0.5006 0.7440 0.6960 0.6731 hom 5926.89 191 1 236719193 . A G 5926.89 Mask AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9420;MQ=58.84;MQ0=0;QD=31.03;VQSLOD=8.1336;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:5926,484,0 1 236721610 236721610 G A exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon36:c.C5131T:p.L1711L 0.61 0.61 0.63 0.65 0.71 0.48 0.6731 0.6264 0.6335 0.6327 0.7464 0.7187 0.6652 0.5379 0.69 0.64 0.72 0.73 0.63 rs2275688 COSM3751021 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6753 0.6267 0.6469 0.6748 0.6266 0.7494 0.7200 0.6904 0.5395 0.6941 0.6286 0.6527 0.6623 0.6266 0.7579 0.7262 0.7157 hom 3287.89 96 1 236721610 . G A 3287.89 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=34.25;VQSLOD=9.9014;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3288,259,0 1 236721660 236721660 T C exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon36:c.A5081G:p.N1694S 0.68 0.7 0.76 0.68 0.74 0.51 0.7187 0.7180 0.7763 0.6533 0.7700 0.7478 0.7075 0.5752 0.74 0.72 0.75 0.77 0.67 rs2275689 COSM4418653 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.741 0.037 T 0.0 0.026 B 0.0 0.013 B 0.362 0.043 N 1 0.090 P 0.535 0.137 N -0.04 0.633 T -0.6 0.178 N 0.006 0.002 -1.000 0.301 T 0.000 0.000 T . . . -1.844 0.010 0.002 0.288 0.015 0.075 0.134 N c -1.751 -1.767 0.926 0.268 0.719 0.830 0 -7.78 0.011 -1.037 0.036 -2.333 0.003 0.000 0.063 0.004 0.083 10.491 0.437 Armadillo-like helical|Armadillo-type fold ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.7232 0.7159 0.7829 0.6844 0.6491 0.7730 0.7503 0.7347 0.5793 0.7408 0.7210 0.7745 0.6755 0.6503 0.7814 0.7516 0.7454 hom 4403.24 139 1 236721660 . T C 4403.24 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.83;MQ0=0;QD=31.68;VQSLOD=9.0048;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:139:99:4403,328,0 1 236721731 236721731 T C exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon36:c.A5010G:p.A1670A 1. 1. 1. 1. 1. 1. 0.9996 0.9958 0.9998 0.9999 1 0.9999 1 1 1. 1. 1. 1. 1. rs819431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9956 0.9997 1 0.9999 1 0.9999 1 1 0.9988 0.9961 0.9988 1 1 1 0.9999 1 hom 4243.86 140 1 236721731 . T C 4243.86 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6229;MQ=58.66;MQ0=0;QD=30.31;VQSLOD=8.2513;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4243,355,0 1 236744712 236744712 C A exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon20:c.G2565T:p.V855V 0.41 0.13 0.5 0.48 0.67 0.41 0.5896 0.2084 0.5025 0.4913 0.7240 0.6795 0.5955 0.4900 0.52 0.22 0.68 0.5 0.28 rs4518892 COSM146833 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6143 0.2184 0.5459 0.6385 0.5 0.7396 0.6907 0.6325 0.5049 0.5620 0.2244 0.5375 0.6156 0.5032 0.7482 0.7011 0.6738 hom 1786.75 59 1 236744712 . C A 1786.75 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.669;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1250;MQ=58.61;MQ0=0;MQRankSum=0.913;QD=30.28;ReadPosRankSum=1.228;VQSLOD=5.5869;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,57:59:99:1820,150,0 1 236746443 236746443 C T exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon18:c.G2295A:p.V765V 0.52 0.3 0.59 0.65 0.68 0.45 0.6237 0.3546 0.6043 0.6307 0.7268 0.6863 0.6225 0.5088 0.58 0.37 0.69 0.61 0.57 rs2794768 COSM3751024 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6322 0.3552 0.6164 0.6382 0.6266 0.7311 0.6886 0.6428 0.5101 0.5980 0.3551 0.6100 0.6358 0.6239 0.7374 0.6975 0.6748 hom 7489.20 243 1 236746443 . C T 7489.20 Mask AC=2;AF=1.00;AN=2;DP=243;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6280;MQ=59.52;MQ0=0;QD=30.82;VQSLOD=8.1829;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,243:243:99:7488,581,0 1 236748505 236748505 T C exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon17:c.A2061G:p.L687L 0.52 0.3 0.59 0.65 0.68 0.45 0.6248 0.3569 0.6048 0.6319 0.7273 0.6868 0.6242 0.5103 0.58 0.37 0.69 0.61 0.64 rs1006456 COSM3751025 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6334 0.3550 0.6173 0.6393 0.6268 0.7311 0.6896 0.6408 0.5102 0.5979 0.3554 0.6077 0.6358 0.6244 0.7377 0.6970 0.6742 hom 2496.03 80 1 236748505 . T C 2496.03 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.55;MQ0=0;QD=31.20;VQSLOD=9.1736;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2529,193,0 1 236749649 236749649 T C exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon15:c.A1819G:p.M607V 0.37 0.035 0.46 0.47 0.62 0.39 0.5368 0.1124 0.4760 0.4889 0.7108 0.6262 0.5485 0.4373 0.46 0.13 0.62 0.34 0.59 rs2794763 COSM3997357 1(breast);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.015 0.524 D 0.584 0.370 P 0.055 0.246 B 0.000 0.843 D 0.729 0.398 P 2.535 0.741 M 0.63 0.531 T -1.12 0.289 N 0.295 0.510 -0.940 0.426 T 0.000 0.000 T . . . 1.992 0.300 16.16 0.977 0.352 0.942 0.600 D c 0.123 0.175 0.739 0.232 0.732 0.924 0 5.42 0.786 4.245 0.583 1.061 0.807 1.000 0.715 0.593 0.287 15.755 0.777 Armadillo-like helical|Armadillo-type fold ENSG00000230325.1|ENSG00000119285.6|ENSG00000119285.6|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000119285.6|ENSG00000230325.1|ENSG00000273058.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Pancreas|Testis 0.5473 0.1084 0.4925 0.5269 0.4860 0.7120 0.6326 0.5536 0.4363 0.4902 0.1146 0.4880 0.5167 0.4963 0.7146 0.6470 0.6183 hom 2412.86 76 1 236749649 . T C 2412.86 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=31.75;VQSLOD=8.8003;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2446,187,0 1 236755837 236755837 C T exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon10:c.G1290A:p.R430R 0.56 0.33 0.6 0.72 0.7 0.53 0.6416 0.3838 0.6024 0.7156 0.7252 0.6958 0.6409 0.5634 0.6 0.39 0.71 0.62 0.3 rs2564739 COSM146834 1(breast);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6474 0.3600 0.6191 0.6684 0.7198 0.7331 0.6925 0.6587 0.5532 0.6215 0.3784 0.6298 0.66 0.7278 0.7471 0.7170 0.6824 hom 1475 54 1 236755837 . C T 1475 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.31;VQSLOD=13.0402;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1508,117,0 1 236758887 236758887 T C exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon8:c.A1043G:p.H348R 0.56 0.33 0.6 0.72 0.7 0.53 0.6549 0.3781 0.6174 0.7302 0.7358 0.7100 0.6501 0.5615 0.61 0.39 0.72 0.62 0.63 rs2794751 COSM3751026 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.037 0.244 N 1 0.090 P -1.04 0.011 N 1.13 0.650 T 0.5 0.030 N 0.041 0.029 -0.962 0.389 T 0.000 0.000 T . . . -0.300 0.068 0.664 0.210 0.008 0.008 0.034 N c -0.939 -0.768 0.135 0.172 0.707 0.730 0 2.97 0.333 0.219 0.173 0.040 0.155 0.057 0.215 0.956 0.434 5.594 0.165 Armadillo-type fold ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000273058.1 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.6622 0.3770 0.6290 0.6726 0.7291 0.7392 0.7114 0.6712 0.5636 0.6235 0.3796 0.6313 0.6623 0.7308 0.7481 0.7190 0.6864 hom 2734.61 93 1 236758887 . T C 2734.61 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=58.62;MQ0=0;QD=29.40;VQSLOD=8.4449;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2768,214,0 1 236767330 236767330 A G exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon2:c.T66C:p.S22S 0.58 0.33 0.72 0.75 0.69 0.54 0.6658 0.3842 0.7372 0.7505 0.7484 0.7011 0.6586 0.5738 0.6 0.4 0.71 0.59 0.66 rs10802551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6736 0.3760 0.7377 0.6115 0.7425 0.7492 0.7030 0.6722 0.5698 0.6257 0.3851 0.7291 0.5927 0.7562 0.7563 0.7114 0.6936 hom 2590.60 80 1 236767330 . A G 2590.60 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4131;MQ=58.95;MQ0=0;QD=32.38;VQSLOD=9.4284;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2624,202,0 1 236882303 236882303 T C exonic ACTN2 synonymous SNV ACTN2:NM_001103:exon3:c.T351C:p.I117I,ACTN2:NM_001278343:exon3:c.T351C:p.I117I 0.99 0.97 1. 1. 1. 1. 0.9979 0.9772 0.9990 1 1 0.9999 1 1 0.99 0.98 1. 0.99 1. rs1341864 . . Benign|Benign|Benign\x2cBenign not_specified|Dilated_cardiomyopathy_1AA|Primary_familial_hypertrophic_cardiomyopathy\x2cnot_specified RCV000150147.2|RCV000232558.2|RCV000232558.2\x2cRCV000036910.2 MedGen|MedGen:OMIM|MedGen:Orphanet:SNOMED_CT\x2cMedGen CN169374|C2677338:612158|C0949658:ORPHA155:83978005\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9984 0.9784 0.9988 1 0.9999 1 1.0000 0.9989 1.0000 0.9933 0.9767 1 1 1 1 1 0.9969 hom 2294.09 83 1 236882303 . T C 2294.09 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.64;VQSLOD=13.0028;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2327,193,0 1 236883421 236883421 C T exonic ACTN2 synonymous SNV ACTN2:NM_001103:exon4:c.C378T:p.N126N,ACTN2:NM_001278343:exon4:c.C378T:p.N126N 0.92 0.81 0.86 0.98 1. 0.97 0.9624 0.8184 0.8618 0.9812 0.9868 0.9953 0.9758 0.9703 0.94 0.83 1. 0.94 0.97 rs1341863 . . Benign|Benign|Benign\x2cBenign not_specified|Dilated_cardiomyopathy_1AA|Primary_familial_hypertrophic_cardiomyopathy\x2cnot_specified RCV000154428.2|RCV000205804.3|RCV000205804.3\x2cRCV000036911.2 MedGen|MedGen:OMIM|MedGen:Orphanet:SNOMED_CT\x2cMedGen CN169374|C2677338:612158|C0949658:ORPHA155:83978005\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9618 0.8160 0.8706 0.9999 0.9799 0.9881 0.9951 0.9684 0.9707 0.9373 0.8084 0.8900 1 0.9790 0.9871 0.9949 0.9755 hom 4383.78 153 1 236883421 . C T 4383.78 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=28.65;VQSLOD=8.2898;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:4383,334,0 1 237048500 237048500 A G exonic MTR nonsynonymous SNV MTR:NM_001291939:exon25:c.A2603G:p.D868G,MTR:NM_001291940:exon25:c.A1535G:p.D512G,MTR:NM_000254:exon26:c.A2756G:p.D919G 0.22 0.28 0.18 0.11 0.17 0.32 0.2091 0.2666 0.1864 0.1132 0.1892 0.1919 0.2108 0.3160 0.22 0.26 0.2 0.2 0.2 rs1805087 COSM3751027 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Uncertain significance|Benign not_specified|Gastrointestinal_stromal_tumor|Disorders_of_Intracellular_Cobalamin_Metabolism RCV000126868.2|RCV000144923.1|RCV000398009.1 MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen CN169374|D046152:C0238198:606764:ORPHA44890|CN043592 . . . . . . 0.189 0.212 T 0.159 0.370 B 0.161 0.356 B 0.000 0.629 D 0.000 0.513 P 1.495 0.376 L -0.62 0.719 T -3.95 0.742 D 0.271 0.589 -1.079 0.075 T 0.000 0.000 T . . . 3.904 0.526 23.5 0.985 0.411 0.991 0.905 D c 0.264 0.443 1.000 0.747 0.707 0.730 0 5.99 0.973 8.536 0.904 1.088 0.866 1.000 0.715 1.000 0.888 16.494 0.840 Cobalamin (vitamin B12)-binding domain . . 0.2033 0.2651 0.1843 0.1699 0.1100 0.1922 0.1909 0.1956 0.3104 0.2113 0.2670 0.1878 0.1623 0.1068 0.1976 0.1944 0.2332 het 904.20 68 1 237048500 . A G 904.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.546;DP=68;Dels=0.00;FS=0.933;HRun=2;HaplotypeScore=1.9632;MQ=59.39;MQ0=0;MQRankSum=1.509;QD=13.30;ReadPosRankSum=-1.153;VQSLOD=6.0487;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,33:68:99:934,0,870 1 237058828 237058828 C T exonic MTR synonymous SNV MTR:NM_001291939:exon30:c.C3423T:p.L1141L,MTR:NM_001291940:exon30:c.C2355T:p.L785L,MTR:NM_000254:exon31:c.C3576T:p.L1192L 0.53 0.43 0.59 0.52 0.54 0.62 0.6193 0.5137 0.6691 0.6073 0.6914 0.6167 0.6318 0.6409 0.55 0.47 0.59 0.56 0.4 rs1131449 COSM425684 2(urinary_tract) Benign|Benign not_specified|Disorders_of_Intracellular_Cobalamin_Metabolism RCV000126863.2|RCV000320660.1 MedGen|MedGen CN169374|CN043592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5775 0.4605 0.6163 0.4692 0.5460 0.6311 0.5725 0.5538 0.6201 0.5576 0.4659 0.5706 0.4967 0.5378 0.6441 0.5885 0.6288 het 382.36 22 1 237058828 . C T 382.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.749;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=0.634;QD=17.38;ReadPosRankSum=-0.282;VQSLOD=7.1176;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,15:22:99:412,0,153 1 237617757 237617757 C T exonic RYR2 synonymous SNV RYR2:NM_001035:exon15:c.C1359T:p.S453S 0.54 0.28 0.54 0.74 0.6 0.6 0.5755 0.305 0.6026 0.7367 0.5985 0.5907 0.5813 0.5625 0.51 0.32 0.6 0.61 . rs3765097 . . Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000036681.4|RCV000252560.1|RCV000306732.1|RCV000363710.1 MedGen|MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|CN239181|C1631597:ORPHA3286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5819 0.3052 0.6039 0.5850 0.7291 0.5915 0.5953 0.5683 0.5589 0.5238 0.3184 0.5897 0.6033 0.7073 0.5894 0.5988 0.5867 hom 2989.99 104 1 237617757 . C T 2989.99 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.83;MQ0=0;QD=28.75;VQSLOD=8.5624;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3023,244,0 1 237711797 237711797 A G exonic RYR2 synonymous SNV RYR2:NM_001035:exon26:c.A2973G:p.S991S 0.83 0.54 0.95 0.87 0.96 0.97 0.9262 0.5994 0.9575 0.8849 0.9710 0.9594 0.9499 0.9663 0.85 0.62 0.96 0.83 . rs2253273 COSM4143550;COSM4143549 1(thyroid) Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000036722.4|RCV000244776.1|RCV000270161.1|RCV000364946.1 MedGen|MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|CN239181|C1631597:ORPHA3286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9329 0.5968 0.9564 0.9549 0.8865 0.9730 0.9589 0.9437 0.9670 0.8540 0.6002 0.9414 0.9603 0.8838 0.9762 0.9567 0.9450 het 807.68 71 1 237711797 . A G 807.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.689;DP=71;Dels=0.00;FS=0.915;HRun=0;HaplotypeScore=2.9931;MQ=59.47;MQ0=0;MQRankSum=0.213;QD=11.38;ReadPosRankSum=1.516;VQSLOD=6.3055;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,33:71:99:838,0,997 1 237801770 237801770 T C exonic RYR2 synonymous SNV RYR2:NM_001035:exon45:c.T6906C:p.L2302L 0.95 0.84 0.99 1. 1. 1. 0.9884 0.8667 0.9948 1 0.9997 0.9997 0.9911 0.9998 0.96 0.87 1. 0.98 . rs707189 . . Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000036783.4|RCV000249527.1|RCV000302537.1|RCV000359593.1 MedGen|MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|CN239181|C1631597:ORPHA3286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9906 0.8676 0.9936 1 1 0.9998 0.9998 0.9949 0.9997 0.9641 0.8753 0.9881 1 1 0.9994 0.9999 0.9898 hom 8223.40 250 1 237801770 . T C 8223.40 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5515;MQ=58.94;MQ0=0;QD=32.89;VQSLOD=8.6383;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8188,638,0 1 237814783 237814783 C T exonic RYR2 synonymous SNV RYR2:NM_001035:exon51:c.C7806T:p.H2602H 0.55 0.49 0.5 0.8 0.43 0.56 0.5198 0.5164 0.5646 0.7888 0.5098 0.4739 0.4895 0.5243 0.45 0.48 0.44 0.51 . rs684923 COSM3751031;COSM3751032 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000036793.4|RCV000253075.1|RCV000303156.1|RCV000392858.1 MedGen|MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|CN239181|C1631597:ORPHA3286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4755 0.4743 0.5052 0.3020 0.7908 0.4899 0.4232 0.4459 0.4991 0.4881 0.5021 0.4940 0.2947 0.8125 0.4991 0.4477 0.4603 hom 304.22 13 1 237814783 . C T 304.22 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.40;VQSLOD=13.4534;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:24.08:337,24,0 1 237863718 237863718 T G exonic RYR2 synonymous SNV RYR2:NM_001035:exon65:c.T9318G:p.S3106S 0.97 0.89 0.99 1. 1. 1. 0.9917 0.9080 0.9953 1 1 0.9994 0.9954 0.9992 0.97 0.91 1. 0.95 . rs2797436 . . Likely benign\x2cBenign|Benign|Likely benign|Likely benign not_specified\x2cnot_specified|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiomyopathy\x2c_ARVC RCV000427003.1\x2cRCV000036803.4|RCV000244894.1|RCV000371137.1|RCV000404089.1 MedGen\x2cMedGen|MedGen|MedGen:Orphanet|MedGen CN169374\x2cCN169374|CN230736|C1631597:ORPHA3286|CN239181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9928 0.9020 0.9953 1 0.9997 1 0.9994 0.9937 0.9993 0.9715 0.9005 0.9964 1 1 1 0.9993 0.9969 hom 983.74 36 1 237863718 . T G 983.74 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;QD=27.33;VQSLOD=8.1389;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:78.24:1017,78,0 1 237881770 237881770 C T exonic RYR2 synonymous SNV RYR2:NM_001035:exon73:c.C10503T:p.T3501T 0.96 0.86 0.99 1. 1. 1. 0.9886 0.8706 0.9952 1 1 0.9995 0.9933 0.9992 0.96 0.88 1. 0.95 . rs2797441 . . Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000036650.8|RCV000248433.1|RCV000287852.1|RCV000345114.1 MedGen|MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|CN239181|C1631597:ORPHA3286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9906 0.8686 0.9949 0.9999 1 1 0.9995 0.9917 0.9993 0.9623 0.8678 0.9964 1 1 1 0.9995 0.9949 hom 2501.25 82 1 237881770 . C T 2501.25 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=30.50;VQSLOD=8.9656;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2534,193,0 1 237890437 237890437 C T exonic RYR2 synonymous SNV RYR2:NM_001035:exon76:c.C10776T:p.S3592S 0.96 0.85 0.99 1. 1. 1. 0.9885 0.8705 0.9949 1 1 0.9994 0.9933 0.9992 0.96 0.88 1. 0.97 . rs2685301 . . Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000036653.4|RCV000253202.1|RCV000300047.1|RCV000357204.1 MedGen|MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|CN239181|C1631597:ORPHA3286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9907 0.8689 0.9948 0.9999 1 1 0.9995 0.9920 0.9993 0.9625 0.8687 0.9964 1 1 1 0.9995 0.9949 hom 2208.76 77 1 237890437 . C T 2208.76 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.79;MQ0=0;QD=28.69;VQSLOD=8.4638;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2242,169,0 1 240256822 240256822 C A exonic FMN2 synonymous SNV FMN2:NM_001305424:exon1:c.C1413A:p.A471A,FMN2:NM_001348094:exon1:c.C1413A:p.A471A,FMN2:NM_020066:exon1:c.C1413A:p.A471A 0.33 0.09 0.34 0.3 0.52 0.48 0.4777 0.1741 0.3928 0.3367 0.4740 0.5348 0.4870 0.5460 0.4 0.16 0.52 0.24 0.43 rs10926124 COSM4143555 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4604 0.1513 0.3883 0.5586 0.3183 0.4556 0.5180 0.4793 0.5192 0.3831 0.1545 0.3852 0.5762 0.3208 0.4610 0.4942 0.4786 hom 966.60 28 1 240256822 . C A 966.60 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.17;MQ0=0;QD=34.52;VQSLOD=8.7480;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:81.22:1000,81,0 1 240370629 240370629 C G exonic FMN2 synonymous SNV FMN2:NM_020066:exon5:c.C2517G:p.T839T,FMN2:NM_001305424:exon6:c.C2529G:p.T843T 0.29 0.26 0.25 0.1 0.41 0.42 0.3481 0.2850 0.2015 0.1066 0.4733 0.3923 0.3425 0.3888 0.35 0.29 0.39 0.25 0.5 rs10926166 COSM4417418 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3422 0.2832 0.2041 0.2959 0.1056 0.4664 0.3957 0.3489 0.3842 0.3482 0.2937 0.2673 0.2351 0.1088 0.4570 0.3871 0.3511 het 1551.80 111 1 240370629 . C G 1551.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.803;DP=111;Dels=0.00;FS=2.493;HRun=0;HaplotypeScore=8.5187;MQ=58.98;MQ0=0;MQRankSum=0.209;QD=13.98;ReadPosRankSum=-1.316;VQSLOD=3.6895;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:53,58:111:99:1582,0,1496 1 240492734 240492734 G A exonic FMN2 nonsynonymous SNV FMN2:NM_001348094:exon8:c.G2324A:p.R775H,FMN2:NM_020066:exon10:c.G4403A:p.R1468H,FMN2:NM_001305424:exon11:c.G4415A:p.R1472H 0.32 0.34 0.36 0.32 0.29 0.31 0.3027 0.3156 0.3931 0.3111 0.2635 0.2841 0.3029 0.3176 0.29 0.31 0.27 0.38 0.2 rs3795677 COSM3746874 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.332 0.130 T 0.002 0.347 B 0.002 0.376 B 0.027 0.259 N 0.777 0.294 P 0.755 0.192 N 2.21 0.184 T -0.11 0.087 N 0.037 0.023 -0.994 0.316 T 0.000 0.000 T . . . 2.687 0.384 20.7 0.629 0.069 0.218 0.213 N c -1.021 -0.891 1.000 0.454 0.554 0.246 0 1.72 0.234 -0.086 0.111 -0.333 0.074 0.000 0.063 0.996 0.625 11.889 0.517 Formin\x2c FH2 domain . . 0.3041 0.3177 0.3798 0.2815 0.3031 0.2794 0.2820 0.2978 0.3215 0.2887 0.3093 0.3604 0.3278 0.2876 0.2855 0.2710 0.3167 het 2628.77 191 1 240492734 . G A 2628.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.722;DP=191;Dels=0.00;FS=5.064;HRun=0;HaplotypeScore=8.9371;MQ=58.55;MQ0=0;MQRankSum=0.915;QD=13.76;ReadPosRankSum=-0.808;VQSLOD=4.2666;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:93,98:191:99:2659,0,2427 1 241755348 241755348 C T exonic KMO nonsynonymous SNV KMO:NM_003679:exon15:c.C1354T:p.R452C 0.12 0.0091 0.13 0.053 0.22 0.21 0.1768 0.0383 0.1008 0.0541 0.2305 0.2166 0.1949 0.1983 0.16 0.044 0.23 0.11 0.27 rs1053230 COSM1179740 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) . . . . . . . . . . . 0.177 0.222 T 0.0 0.026 B 0.0 0.013 B 0.116 0.027 N 1 0.090 P 0 0.065 N 0.92 0.445 T -0.63 0.185 N 0.023 0.429 -1.055 0.130 T 0.000 0.000 T . . . 1.583 0.252 13.76 0.778 0.116 0.005 0.022 N c -1.000 -1.053 1.000 0.454 0.644 0.439 0 0.337 0.151 0.518 0.224 0.125 0.212 0.000 0.063 0.003 0.074 7.322 0.255 . . . 0.1767 0.0344 0.1039 0.1830 0.0520 0.2298 0.2195 0.1945 0.1981 0.1635 0.0416 0.1241 0.2086 0.0592 0.2423 0.2262 0.2008 het 1882.69 177 1 241755348 . C T 1882.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.595;DP=177;DS;Dels=0.00;FS=3.850;HRun=0;HaplotypeScore=3.8473;MQ=59.32;MQ0=0;MQRankSum=-0.109;QD=10.64;ReadPosRankSum=0.172;VQSLOD=5.7025;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:105,71:177:99:1913,0,2601 1 241907817 241907817 T C exonic WDR64 synonymous SNV WDR64:NM_144625:exon12:c.T1563C:p.N521N 0.59 0.82 0.57 0.51 0.47 0.5 0.5354 0.7876 0.5733 0.5236 0.4042 0.5160 0.4890 0.4896 0.61 0.77 0.52 0.69 0.46 rs10802990 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5282 0.7910 0.5668 0.5379 0.5197 0.4075 0.5167 0.5119 0.4893 0.5854 0.7887 0.5299 0.5367 0.5205 0.4213 0.5224 0.4949 het 751.68 87 1 241907817 . T C 751.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.801;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=0.118;QD=8.64;ReadPosRankSum=0.625;VQSLOD=6.3113;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,33:87:99:782,0,1593 1 241929542 241929542 G A exonic WDR64 nonsynonymous SNV WDR64:NM_144625:exon15:c.G1940A:p.R647Q 0.11 0.22 0.12 0.003 0.15 0.018 0.1235 0.2240 0.0683 0.0012 0.0919 0.1594 0.0982 0.0317 0.18 0.22 0.16 0.15 0.17 rs12095445 COSM3751038;COSM3751039 1(large_intestine) . . . . . . . . . . . 0.145 0.251 T 0.088 0.235 B 0.023 0.188 B 0.897 0.086 N 1.000 0.208 P 0.69 0.170 N 1.06 0.398 T -0.11 0.158 N 0.043 0.193 -0.993 0.318 T 0.000 0.000 T . . . 2.289 0.336 18.09 0.934 0.225 0.013 0.044 N c -1.130 -1.062 0.000 0.029 0.487 0.133 0 0.735 0.174 2.659 0.462 -0.322 0.076 1.000 0.715 0.112 0.193 3.756 0.081 WD40-repeat-containing domain;WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000203668.1|ENSG00000162843.13 Artery_Tibial|Testis 0.1193 0.2230 0.0738 0.1935 0.0009 0.0907 0.1604 0.1266 0.0302 0.1616 0.2198 0.1050 0.1821 0.0012 0.0874 0.1676 0.1255 het 1652.58 125 1 241929542 . G A 1652.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.408;DP=125;Dels=0.00;FS=1.488;HRun=1;HaplotypeScore=3.9549;MQ=58.95;MQ0=0;MQRankSum=-0.408;QD=13.22;ReadPosRankSum=-0.032;VQSLOD=6.0704;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,67:125:99:1683,0,1324 1 241951329 241951329 C T exonic WDR64 nonsynonymous SNV WDR64:NM_144625:exon23:c.C2854T:p.R952W 0.11 0.22 0.13 0.005 0.16 0.021 0.1326 0.2252 0.0712 0.0017 0.0966 0.1665 0.1145 0.0431 0.18 0.21 0.17 0.14 0.16 rs12074374 COSM3751041;COSM3751040 1(large_intestine) . . . . . . . . . . . 0.002 0.721 D 0.999 0.899 D 0.874 0.645 P 0.047 0.234 N 0.999 0.314 P 2.215 0.627 M 1.17 0.418 T -3.36 0.670 D 0.141 0.420 -1.091 0.053 T 0.000 0.001 T . . . 5.478 0.744 26.2 0.998 0.905 0.140 0.180 N c 0.021 -0.067 0.000 0.035 0.487 0.133 0 2.8 0.317 0.344 0.196 -0.348 0.070 0.096 0.225 0.955 0.433 9.375 0.373 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000203668.1 Artery_Tibial 0.1254 0.2197 0.0756 0.2089 0.0015 0.0957 0.1660 0.1304 0.0345 0.1651 0.2179 0.1050 0.1954 0.0031 0.0936 0.1736 0.1314 het 407.75 45 1 241951329 . C T 407.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.577;DP=45;Dels=0.00;FS=5.039;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=0.202;QD=9.06;ReadPosRankSum=0.391;VQSLOD=5.6961;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,16:45:99:438,0,808 1 242030151 242030151 A G exonic EXO1 nonsynonymous SNV EXO1:NM_003686:exon9:c.A1061G:p.H354R,EXO1:NM_006027:exon9:c.A1061G:p.H354R,EXO1:NM_001319224:exon10:c.A1061G:p.H354R,EXO1:NM_130398:exon11:c.A1061G:p.H354R 0.64 0.61 0.69 0.8 0.57 0.53 0.5930 0.6192 0.7242 0.7996 0.6056 0.5521 0.5870 0.5368 0.57 0.62 0.54 0.7 0.52 rs735943 COSM5001996;COSM5001995 1(breast);1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.997 0.019 T 0.0 0.026 B 0.001 0.040 B 0.241 0.157 N 1.000 0.202 P 1.025 0.256 L 1.41 0.346 T -0.92 0.247 N 0.026 0.024 -0.990 0.327 T 0.000 0.000 T . . . -0.879 0.037 0.029 0.128 0.002 0.205 0.209 N c -1.046 -0.938 0.267 0.188 0.707 0.730 0 -0.821 0.102 0.399 0.205 -0.152 0.108 0.990 0.367 0.933 0.406 11.725 0.508 . ENSG00000174371.12 Testis 0.5972 0.6227 0.7206 0.4424 0.7964 0.6011 0.5562 0.5823 0.5363 0.6067 0.6181 0.6770 0.5232 0.7866 0.6154 0.5774 0.5922 hom 4406.07 157 1 242030151 . A G 4406.07 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6764;MQ=59.13;MQ0=0;QD=28.06;VQSLOD=7.4928;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:4405,358,0 1 242035382 242035382 C T exonic EXO1 nonsynonymous SNV EXO1:NM_003686:exon10:c.C1316T:p.T439M,EXO1:NM_006027:exon10:c.C1316T:p.T439M,EXO1:NM_001319224:exon11:c.C1313T:p.T438M,EXO1:NM_130398:exon12:c.C1316T:p.T439M 0.086 0.0076 0.21 0.089 0.086 0.1 0.1032 0.0172 0.3222 0.0800 0.1111 0.0824 0.0931 0.0954 0.057 0.019 0.077 0.087 0.09 rs4149963 COSM146842;COSM4382337 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . 0.055 0.384 T 0.014 0.230 B 0.005 0.145 B 0.095 0.201 N 1.000 0.186 P 2.27 0.647 M 1.29 0.358 T -2.07 0.473 N 0.057 0.052 -1.090 0.055 T 0.000 0.000 T . . . 2.609 0.375 20.2 0.951 0.255 0.140 0.180 N c -0.599 -0.553 0.227 0.184 0.732 0.924 0 2.99 0.335 0.611 0.238 -0.326 0.075 0.001 0.137 0.777 0.329 6.078 0.190 . . . 0.1120 0.0180 0.3113 0.0477 0.0763 0.1073 0.0823 0.1027 0.0944 0.0749 0.0183 0.2380 0.0767 0.0655 0.1101 0.0903 0.0969 hom 1184.40 40 1 242035382 . C T 1184.40 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.465;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.28;MQ0=0;MQRankSum=-1.086;QD=29.61;ReadPosRankSum=1.024;VQSLOD=7.7971;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,38:40:60.58:1217,61,0 1 242042301 242042301 G A exonic EXO1 nonsynonymous SNV EXO1:NM_003686:exon11:c.G1765A:p.E589K,EXO1:NM_006027:exon11:c.G1765A:p.E589K,EXO1:NM_001319224:exon12:c.G1762A:p.E588K,EXO1:NM_130398:exon13:c.G1765A:p.E589K 0.35 0.48 0.39 0.23 0.37 0.26 0.3610 0.4790 0.3657 0.1900 0.4080 0.3765 0.3554 0.2917 0.41 0.47 0.37 0.35 0.3 rs1047840 COSM146843;COSM4382841 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(skin);2(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.093 B 0.097 0.200 N 1 0.090 P -0.6 0.022 N 1.24 0.367 T -0.18 0.098 N 0.027 0.026 -0.938 0.430 T 0.000 0.000 T . . . -0.283 0.070 0.727 0.411 0.029 0.010 0.037 N c -1.608 -1.625 0.931 0.270 0.707 0.730 0 -3.34 0.046 -0.023 0.123 -0.957 0.024 0.006 0.172 0.000 0.016 10.091 0.414 . . . 0.3619 0.4782 0.3681 0.3974 0.1837 0.4154 0.3774 0.3594 0.2912 0.4007 0.4647 0.3720 0.3808 0.1951 0.3993 0.3894 0.3809 hom 4795.14 154 1 242042301 . G A 4795.14 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.09;MQ0=0;QD=31.14;VQSLOD=9.8135;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:4795,376,0 1 242045275 242045275 C T exonic EXO1 nonsynonymous SNV EXO1:NM_003686:exon12:c.C2167T:p.R723C,EXO1:NM_006027:exon12:c.C2167T:p.R723C,EXO1:NM_001319224:exon13:c.C2164T:p.R722C,EXO1:NM_130398:exon14:c.C2167T:p.R723C 0.92 0.87 0.98 0.87 0.97 0.92 0.9564 0.8819 0.9773 0.8708 0.9909 0.9749 0.9659 0.9442 0.95 0.89 0.98 0.87 0.96 rs1635498 . . . . . . . . . . . . . 0.188 0.213 T 0.85 0.449 P 0.34 0.406 B 0.131 0.186 N 1.000 0.200 P 0.345 0.112 N 1.35 0.360 T -1.22 0.309 N 0.043 0.069 -0.976 0.358 T 0.000 0.000 T . . . 3.117 0.434 22.6 0.956 0.268 0.054 0.112 N c -0.515 -0.592 0.792 0.240 0.732 0.924 0 1.84 0.242 0.577 0.233 0.935 0.490 0.005 0.169 0.565 0.282 5.135 0.142 . . . 0.9584 0.8828 0.9742 0.9361 0.8718 0.9916 0.9758 0.9671 0.9452 0.9462 0.8801 0.9712 0.9669 0.8691 0.9954 0.9780 0.9744 hom 2321.66 92 1 242045275 . C T 2321.66 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4105;MQ=59.21;MQ0=0;QD=25.24;VQSLOD=6.5714;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2355,172,0 1 243579112 243579112 G A exonic SDCCAG8 synonymous SNV SDCCAG8:NM_001350249:exon14:c.G1431A:p.E477E,SDCCAG8:NM_006642:exon14:c.G1725A:p.E575E,SDCCAG8:NM_001350247:exon15:c.G822A:p.E274E,SDCCAG8:NM_001350248:exon15:c.G1821A:p.E607E,SDCCAG8:NM_001350246:exon16:c.G822A:p.E274E,SDCCAG8:NM_001350251:exon17:c.G822A:p.E274E 0.44 0.094 0.54 0.78 0.5 0.42 0.4889 0.1517 0.5863 0.7657 0.5210 0.5040 0.4823 0.4147 0.39 0.16 0.51 0.47 0.57 rs10927011 . . Benign|Benign|Benign not_specified|Renal_dysplasia_and_retinal_aplasia|Bardet-Biedl_syndrome RCV000253713.1|RCV000291874.1|RCV000381614.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN117960:ORPHA3156:236531005|C0752166:209900:ORPHA110:5619004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4992 0.1420 0.5850 0.5132 0.7695 0.5160 0.5008 0.5007 0.4102 0.4159 0.1536 0.5755 0.5333 0.7942 0.5186 0.4892 0.4735 het 1325.13 80 1 243579112 . G A 1325.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.358;DP=80;Dels=0.00;FS=3.495;HRun=1;HaplotypeScore=3.4863;MQ=59.40;MQ0=0;MQRankSum=0.404;QD=16.56;ReadPosRankSum=-0.005;VQSLOD=5.8488;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,46:80:99:1355,0,971 1 245245402 245245402 C T exonic EFCAB2 synonymous SNV EFCAB2:NM_001143943:exon4:c.C201T:p.P67P,EFCAB2:NM_001290327:exon5:c.C231T:p.P77P,EFCAB2:NM_032328:exon5:c.C201T:p.P67P 0.29 0.25 0.29 0.19 0.45 0.29 0.3438 0.2453 0.2067 0.1706 0.3721 0.4061 0.3667 0.3286 0.35 0.25 0.39 0.28 0.39 rs10927387 COSM146846;COSM3751069 1(bone);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3422 0.2385 0.2270 0.3738 0.1746 0.3733 0.4110 0.3652 0.3276 0.3347 0.2414 0.2757 0.4295 0.1642 0.3730 0.3988 0.3497 het 1469.04 149 1 245245402 . C T 1469.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.158;DP=149;Dels=0.00;FS=2.138;HRun=0;HaplotypeScore=4.5678;MQ=59.57;MQ0=0;MQRankSum=1.287;QD=9.86;ReadPosRankSum=-0.732;VQSLOD=5.3465;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:89,60:149:99:1499,0,2482 1 245704130 245704130 G C exonic KIF26B nonsynonymous SNV KIF26B:NM_018012:exon5:c.G1228C:p.A410P 0.13 0.0091 0.17 0.23 0.13 0.15 0.1246 0.0186 0.2522 0.2325 0.1025 0.1027 0.1247 0.1394 0.081 0.024 0.11 0.087 . rs61754898 COSM5827804;COSM146847;COSM3751070 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.505 0.124 T 0.01 0.144 B 0.004 0.112 B . . . 1 0.090 P -0.09 0.047 N -1.12 0.776 T 0.79 0.019 N 0.039 0.126 -1.110 0.031 T 0.000 0.000 T . . . -0.178 0.078 1.219 0.707 0.091 0.596 0.307 D c -0.897 -0.800 0.001 0.077 0.554 0.246 0 3.53 0.394 3.595 0.535 -0.232 0.094 0.806 0.296 0.000 0.016 11.029 0.468 . . . 0.1324 0.0177 0.2500 0.0976 0.2294 0.1042 0.1042 0.1192 0.1428 0.0922 0.0208 0.2518 0.07 0.2321 0.1068 0.1049 0.1224 het 1516.89 139 1 245704130 . G C 1516.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.705;DP=139;Dels=0.00;FS=0.657;HRun=2;HaplotypeScore=1.8932;MQ=59.08;MQ0=0;MQRankSum=-0.897;QD=10.91;ReadPosRankSum=-1.438;VQSLOD=5.2634;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,63:139:99:1547,0,1762 1 245849000 245849000 C T exonic KIF26B synonymous SNV KIF26B:NM_018012:exon12:c.C2715T:p.P905P 0.082 0.072 0.097 0.021 0.19 0.038 0.1517 0.1083 0.0601 0.0216 0.2568 0.2079 0.1444 0.0464 0.17 0.098 0.2 0.065 . rs61744485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1482 0.1067 0.0694 0.0929 0.0217 0.2512 0.2101 0.1512 0.0473 0.1852 0.1078 0.0909 0.0960 0.0117 0.2514 0.2389 0.2108 het 544.77 45 1 245849000 . C T 544.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.398;DP=45;Dels=0.00;FS=1.174;HRun=0;HaplotypeScore=0.9916;MQ=58.55;MQ0=0;MQRankSum=0.216;QD=12.11;ReadPosRankSum=-0.535;VQSLOD=5.4821;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,21:45:99:575,0,648 1 245850095 245850095 C T exonic KIF26B synonymous SNV KIF26B:NM_018012:exon12:c.C3810T:p.D1270D 0.15 0.23 0.16 0.018 0.24 0.054 0.1983 0.2319 0.0971 0.0157 0.2821 0.2581 0.2180 0.0711 0.24 0.22 0.26 0.21 . rs871840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1942 0.2244 0.1051 0.2404 0.0170 0.2791 0.2568 0.2094 0.0716 0.2455 0.2270 0.1316 0.2483 0.0099 0.2796 0.2801 0.2444 hom 1533.63 50 1 245850095 . C T 1533.63 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.67;VQSLOD=13.4790;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1567,123,0 1 245861571 245861571 C T exonic KIF26B synonymous SNV KIF26B:NM_018012:exon13:c.C5988T:p.D1996D 0.4 0.33 0.45 0.38 0.55 0.33 0.4942 0.3644 0.3688 0.3931 0.4968 0.5756 0.5101 0.3804 0.53 0.4 0.58 0.47 . rs3205034 COSM3997382;COSM3997381 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4921 0.3554 0.3758 0.6102 0.3911 0.4977 0.5772 0.5428 0.3838 0.4759 0.3595 0.4149 0.6589 0.3994 0.4785 0.5501 0.4878 het 326.19 27 1 245861571 . C T 326.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.092;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9969;MQ=60.00;MQ0=0;MQRankSum=-0.461;QD=12.08;ReadPosRankSum=0.558;VQSLOD=5.9780;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,14:27:99:356,0,325 1 246021941 246021941 T C exonic SMYD3 synonymous SNV SMYD3:NM_001167740:exon10:c.A933G:p.A311A,SMYD3:NM_022743:exon10:c.A756G:p.A252A 0.39 0.22 0.52 0.19 0.72 0.39 0.5672 0.2813 0.4006 0.1714 0.6424 0.7194 0.5749 0.4253 0.57 0.29 0.72 0.37 0.71 rs2362587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5686 0.2824 0.4260 0.6947 0.1706 0.6495 0.7210 0.6248 0.4278 0.5488 0.2934 0.5060 0.6623 0.1786 0.6372 0.7113 0.6327 het 1767.67 128 1 246021941 . T C 1767.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.331;DP=128;Dels=0.00;FS=0.679;HRun=0;HaplotypeScore=4.9163;MQ=59.37;MQ0=0;MQRankSum=0.729;QD=13.81;ReadPosRankSum=-0.676;VQSLOD=5.6907;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,71:128:99:1798,0,1407 1 246707858 246707858 A G exonic TFB2M synonymous SNV TFB2M:NM_022366:exon7:c.T984C:p.F328F 0.15 0.17 0.22 0.003 0.28 0.1 0.2068 0.1920 0.1199 0.0006 0.2430 0.2688 0.2450 0.1182 0.24 0.19 0.27 0.12 0.25 rs3129568 COSM5419981 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2077 0.1894 0.1360 0.3185 0.0008 0.2388 0.2684 0.2434 0.1197 0.2223 0.1934 0.1599 0.2947 0.0012 0.2395 0.2599 0.2403 hom 3827.61 124 1 246707858 . A G 3827.61 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5661;MQ=60.00;MQ0=0;QD=30.87;VQSLOD=8.9516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3827,304,0 1 246720798 246720798 G A exonic TFB2M synonymous SNV TFB2M:NM_022366:exon3:c.C441T:p.I147I 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1 1 1 1. 1. 1. 1. 0.95 rs3124071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9998 1 1 1 1 1 1 1 0.9999 0.9998 1 1 1 1 1 1 hom 2261.16 73 1 246720798 . G A 2261.16 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=30.97;VQSLOD=8.3821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2294,184,0 1 246755124 246755124 T C exonic CNST nonsynonymous SNV CNST:NM_001139459:exon2:c.T260C:p.L87S,CNST:NM_152609:exon2:c.T260C:p.L87S 0.88 0.8 0.92 0.89 0.91 0.94 0.9088 0.8289 0.9341 0.9031 0.9262 0.9080 0.8996 0.9411 0.88 0.85 0.9 0.84 0.89 rs6702823 COSM4143624 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.207 0.034 N 1 0.090 P -0.465 0.027 N 2.08 0.202 T 1.95 0.004 N 0.018 0.021 -0.990 0.327 T 0.000 0.000 T . . . -2.620 0.003 0.001 0.434 0.032 0.015 0.049 N c -1.756 -1.706 1.000 0.747 0.731 0.878 0 -2.86 0.053 -0.531 0.062 -1.586 0.009 0.000 0.063 0.000 0.016 9.704 0.392 . . . 0.9102 0.8293 0.9325 0.9067 0.8983 0.9270 0.9048 0.9110 0.9414 0.8882 0.8366 0.9141 0.8933 0.8974 0.9256 0.9054 0.9122 hom 1523.66 53 1 246755124 . T C 1523.66 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=28.75;VQSLOD=8.1310;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1557,126,0 1 247006051 247006051 G C exonic AHCTF1 nonsynonymous SNV AHCTF1:NM_001323342:exon35:c.C6553G:p.L2185V,AHCTF1:NM_001323343:exon35:c.C6553G:p.L2185V,AHCTF1:NM_015446:exon35:c.C6580G:p.L2194V 0.22 0.22 0.34 0.17 0.22 0.17 0.2445 0.2079 0.4605 0.1582 0.3506 0.2262 0.2461 0.1921 0.21 0.21 0.21 0.21 0.2 rs12410563 COSM3997386 1(bone);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.456 0.124 N 1 0.090 P -2.38 0.001 N 1.94 0.227 T 0.53 0.028 N 0.021 0.024 -0.928 0.445 T 0.000 0.000 T . . . -2.121 0.007 0.001 0.435 0.032 0.001 0.006 N c -1.763 -1.656 0.000 0.044 0.732 0.924 0 -0.129 0.128 -0.285 0.084 -1.540 0.010 0.002 0.151 0.000 0.016 5.997 0.186 . . . 0.2508 0.2130 0.4335 0.1356 0.1578 0.3431 0.2239 0.2548 0.1888 0.2430 0.2136 0.3628 0.1523 0.1570 0.3539 0.2369 0.2719 hom 7808.96 250 1 247006051 . G C 7808.96 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4926;MQ=57.91;MQ0=0;QD=31.24;VQSLOD=6.9891;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7770,593,0 1 247048834 247048834 T C exonic AHCTF1 nonsynonymous SNV AHCTF1:NM_001323342:exon21:c.A2621G:p.N874S,AHCTF1:NM_001323343:exon21:c.A2621G:p.N874S,AHCTF1:NM_015446:exon21:c.A2648G:p.N883S 0.68 0.98 0.63 0.62 0.52 0.55 0.5662 0.9117 0.6619 0.5986 0.5915 0.4934 0.5621 0.5476 0.63 0.89 0.5 0.73 0.48 rs2642990 COSM3751079 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.262 0.153 N 1 0.090 P -1.04 0.011 N 1.05 0.400 T 0.23 0.046 N 0.001 0.000 -0.992 0.321 T 0.000 0.000 T . . . -1.626 0.014 0.002 0.627 0.069 0.019 0.058 N c -1.447 -1.343 0.987 0.310 0.372 0.050 0 -0.677 0.107 0.409 0.207 -0.662 0.040 0.010 0.182 0.728 0.316 7.224 0.250 ELYS-like domain ENSG00000153207.10|ENSG00000153207.10|ENSG00000153207.10|ENSG00000153207.10 Adipose_Subcutaneous|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung 0.5633 0.9154 0.6483 0.4586 0.5939 0.5868 0.4942 0.5655 0.5433 0.6360 0.9022 0.6067 0.5033 0.5998 0.5988 0.5027 0.5654 hom 2063.34 67 1 247048834 . T C 2063.34 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.01;MQ0=0;QD=30.80;VQSLOD=4.8890;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2096,163,0 1 247150740 247150740 T C exonic ZNF695 synonymous SNV ZNF695:NM_020394:exon4:c.A1077G:p.K359K 0.59 0.16 0.72 0.97 0.64 0.63 0.6538 0.2257 0.8288 0.9821 0.6931 0.6494 0.6745 0.6122 0.51 0.25 0.64 0.59 . rs3749427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6647 0.2194 0.8085 0.6812 0.9820 0.6940 0.6408 0.6596 0.6116 0.5525 0.2333 0.7864 0.6225 0.9790 0.6920 0.6392 0.6418 het 924.54 69 1 247150740 . T C 924.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.430;DP=69;Dels=0.00;FS=14.071;HRun=1;HaplotypeScore=3.7738;MQ=59.67;MQ0=0;MQRankSum=0.074;QD=13.40;ReadPosRankSum=-1.632;VQSLOD=3.4913;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,35:69:99:955,0,979 1 247151557 247151557 A G exonic ZNF695 nonsynonymous SNV ZNF695:NM_001204221:exon4:c.T260C:p.V87A,ZNF695:NM_020394:exon4:c.T260C:p.V87A 0.63 0.29 0.74 0.97 0.64 0.63 0.6678 0.3304 0.8365 0.9819 0.6926 0.6495 0.6833 0.6302 0.55 0.33 0.64 0.62 . rs2642992 COSM1127064;COSM3927626 2(prostate) . . . . . . . . . . . 1.0 0.032 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.695 0.181 N 5.77 0.064 T 1.06 0.154 N 0.003 0.000 -1.052 0.137 T 0.000 0.000 T . . . -0.782 0.041 0.047 0.315 0.018 0.000 0.000 N c -1.711 -1.707 0.000 0.071 0.707 0.730 0 0.459 0.158 -0.331 0.079 -0.755 0.034 0.000 0.063 0.412 0.256 3.894 0.086 Krueppel-associated box ENSG00000135747.7|ENSG00000135747.7|ENSG00000135747.7|ENSG00000135747.7 Adipose_Subcutaneous|Artery_Tibial|Muscle_Skeletal|Thyroid 0.6700 0.3260 0.8120 0.6941 0.9817 0.6986 0.6433 0.6749 0.6226 0.5802 0.3307 0.7959 0.6258 0.9790 0.6923 0.6387 0.6439 het 408.20 36 1 247151557 . A G 408.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.075;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.610;QD=11.34;ReadPosRankSum=-1.251;VQSLOD=6.0988;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,15:36:99:438,0,622 1 247162658 247162658 C T exonic ZNF695 nonsynonymous SNV ZNF695:NM_001204221:exon3:c.G251A:p.R84K,ZNF695:NM_020394:exon3:c.G251A:p.R84K 0.83 0.83 0.93 0.97 0.83 0.62 0.8270 0.8233 0.9324 0.9822 0.8692 0.8338 0.8392 0.6294 0.83 0.83 0.83 0.9 . rs2642973 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.063 B . . . 1 0.090 P 1.06 0.271 L 5.79 0.067 T 1.45 0.008 N 0.004 0.026 -0.924 0.450 T 0.000 0.000 T . . . -0.876 0.037 0.029 0.396 0.027 0.000 0.002 N c -1.725 -1.789 0.000 0.035 0.707 0.730 0 0.149 0.141 -1.671 0.020 -0.734 0.035 0.037 0.206 0.028 0.145 . . Krueppel-associated box ENSG00000188295.10|ENSG00000188295.10 Cells_Transformed_fibroblasts|Nerve_Tibial 0.8348 0.8207 0.9285 0.8996 0.9821 0.8703 0.8267 0.8531 0.6363 0.8389 0.8165 0.9127 0.8907 0.9796 0.8665 0.8259 0.8289 hom 2734.81 90 1 247162658 . C T 2734.81 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=30.39;VQSLOD=9.0841;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2768,214,0 1 247267269 247267269 C T exonic ZNF669 nonsynonymous SNV ZNF669:NM_024804:exon1:c.G233A:p.C78Y 0.011 0.0023 0.016 . 0.039 0.0031 0.0338 0.0065 0.0297 0 0.1048 0.0462 0.0320 0.0054 0.016 0.0034 0.022 0.011 0.0082 rs61730460 . . . . . . . . . . . . . 0.007 0.599 D 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 D 0 0.065 N 3.4 0.057 T -0.78 0.216 N 0.214 0.263 -0.943 0.422 T 0.002 0.005 T . . . 0.525 0.144 7.621 0.560 0.053 0.022 0.064 N c -1.770 -1.863 1.000 0.747 0.025 0.001 3 -0.684 0.107 -1.050 0.036 -1.787 0.007 0.001 0.137 0.001 0.043 3.325 0.066 . . . 0.0235 0.0034 0.0153 0.0331 0 0.0585 0.0299 0.0343 0.0042 0.0250 0.0036 0.0155 0.0563 0.0006 0.0562 0.0322 0.0347 het 168.73 13 1 247267269 . C T 168.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.468;DP=13;Dels=0.00;FS=2.616;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=-0.289;QD=12.98;ReadPosRankSum=-0.289;VQSLOD=6.3169;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,8:13:91.35:199,0,91 1 247267274 247267274 C A exonic ZNF669 nonsynonymous SNV ZNF669:NM_024804:exon1:c.G228T:p.E76D 0.25 0.12 0.29 0.12 0.33 0.45 0.3883 0.2008 0.4977 0.1524 0.4502 0.3812 0.4185 0.5099 0.25 0.15 0.31 0.2 0.2 rs4925692 COSM3746892 1(liver);1(biliary_tract) . . . . . . . . . . . 0.342 0.126 T 0.88 0.464 P 0.636 0.501 P . . . 0.999 0.588 P 0.55 0.145 N 3.37 0.059 T -0.05 0.080 N 0.123 0.138 -0.934 0.435 T 0.000 0.000 T . . . 2.631 0.377 20.4 0.994 0.634 0.042 0.096 N c -0.784 -1.009 1.000 0.747 0.025 0.001 3 0.342 0.152 -1.987 0.016 -0.373 0.066 0.000 0.063 0.002 0.062 2.763 0.049 . ENSG00000188295.10|ENSG00000188295.10|ENSG00000221953.2|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10|ENSG00000221953.2|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.3215 0.1439 0.3618 0.2893 0.1077 0.3288 0.3260 0.3161 0.4633 0.2651 0.1543 0.3194 0.2417 0.1062 0.3219 0.3273 0.3200 het 52.66 13 1 247267274 . C A 52.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.545;DP=13;Dels=0.00;FS=2.616;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=0.437;QD=4.05;ReadPosRankSum=-0.212;VQSLOD=3.6815;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,5:13:82.65:83,0,208 1 247419509 247419509 T C exonic VN1R5 unknown UNKNOWN 0.78 0.56 0.89 0.84 0.89 0.84 0.8598 0.6033 0.8682 0.8479 0.8251 0.9037 0.8661 0.8482 0.81 0.61 0.9 0.81 . rs1778540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8629 0.5988 0.8741 0.8644 0.8490 0.8227 0.9094 0.8716 0.8482 0.8069 0.6025 0.8971 0.8709 0.8437 0.8207 0.9076 0.8735 hom 6780.15 218 1 247419509 . T C 6780.15 Mask AC=2;AF=1.00;AN=2;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6486;MQ=59.49;MQ0=0;QD=31.10;VQSLOD=8.8539;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,217:218:99:6780,518,0 1 247419664 247419664 C T exonic VN1R5 unknown UNKNOWN 0.77 0.52 0.89 0.84 0.89 0.85 0.8576 0.5712 0.8660 0.8483 0.8251 0.9033 0.8638 0.8546 0.8 0.59 0.9 0.81 . rs1778541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8613 0.5674 0.8723 0.8644 0.8493 0.8226 0.9091 0.8705 0.8544 0.7983 0.5729 0.8947 0.8709 0.8418 0.8207 0.9077 0.8727 hom 6911.55 218 1 247419664 . C T 6911.55 Mask AC=2;AF=1.00;AN=2;DP=218;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7219;MQ=59.38;MQ0=0;QD=31.70;VQSLOD=9.3505;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,218:218:99:6911,551,0 1 247587408 247587408 C T exonic NLRP3 synonymous SNV NLRP3:NM_001127462:exon3:c.C663T:p.T221T,NLRP3:NM_001243133:exon3:c.C657T:p.T219T,NLRP3:NM_004895:exon3:c.C663T:p.T221T,NLRP3:NM_183395:exon3:c.C663T:p.T221T,NLRP3:NM_001127461:exon4:c.C663T:p.T221T,NLRP3:NM_001079821:exon5:c.C663T:p.T221T 0.12 0.23 0.088 0.13 0.055 0.036 0.0817 0.2178 0.0837 0.1469 0.0830 0.0606 0.0817 0.0453 0.12 0.22 0.062 0.12 0.057 rs7525979 COSM5426724 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign|Benign not_specified|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|Familial_cold_autoinflammatory_syndrome|Chronic_infantile_neurological\x2c_cutaneous_and_articular_syndrome RCV000253525.1|RCV000276738.1|RCV000334195.1|RCV000369011.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268390:191900:ORPHA575:15123008|CN230757|C0409818:607115:ORPHA1451:239826001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0797 0.2218 0.0845 0.0806 0.1425 0.0866 0.0572 0.0801 0.0450 0.1101 0.2134 0.1014 0.0894 0.1407 0.0873 0.0550 0.0804 het 963.92 91 1 247587408 . C T 963.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.172;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.34;MQ0=0;MQRankSum=-0.461;QD=10.59;ReadPosRankSum=0.397;VQSLOD=6.9239;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,39:91:99:994,0,1491 1 247587531 247587531 A G exonic NLRP3 synonymous SNV NLRP3:NM_001127462:exon3:c.A786G:p.R262R,NLRP3:NM_001243133:exon3:c.A780G:p.R260R,NLRP3:NM_004895:exon3:c.A786G:p.R262R,NLRP3:NM_183395:exon3:c.A786G:p.R262R,NLRP3:NM_001127461:exon4:c.A786G:p.R262R,NLRP3:NM_001079821:exon5:c.A786G:p.R262R 0.92 0.84 0.95 1. 0.96 0.88 0.9426 0.8480 0.9690 0.9986 0.9540 0.9594 0.9471 0.8816 0.92 0.85 0.95 0.92 0.94 rs4925543 . . Benign\x2cBenign not_specified\x2cnot_specified RCV000127219.1\x2cRCV000455066.1 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9462 0.8472 0.9714 0.9715 0.9988 0.9502 0.9579 0.9546 0.8834 0.9332 0.8519 0.9737 0.9735 0.9975 0.9522 0.9645 0.9562 hom 3766.26 118 1 247587531 . A G 3766.26 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6208;MQ=59.33;MQ0=0;QD=31.92;VQSLOD=9.7563;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3766,289,0 1 247614386 247614386 T C exonic OR2B11 nonsynonymous SNV OR2B11:NM_001004492:exon1:c.A899G:p.D300G 0.11 0.2 0.18 0.001 0.14 0.043 0.1286 0.2021 0.1469 0.0013 0.1261 0.1402 0.1282 0.0625 0.16 0.2 0.15 0.12 0.16 rs12070953 . . . . . . . . . . . . . 0.001 0.784 D 0.001 0.067 B 0.001 0.040 B 0.002 0.385 N 0.197 0.345 P 2.97 0.856 M 1.07 0.396 T -5.34 0.846 D 0.117 0.132 -1.081 0.071 T 0.000 0.000 T . . . 1.496 0.242 13.29 0.970 0.315 0.971 0.726 D c -0.181 -0.229 0.433 0.204 0.487 0.133 0 2.72 0.310 5.533 0.667 0.982 0.598 1.000 0.715 0.017 0.128 5.604 0.165 . . . 0.1291 0.2044 0.1542 0.1687 0.0015 0.1285 0.1426 0.1260 0.0637 0.1480 0.2036 0.1695 0.1933 0.0019 0.1228 0.1368 0.1224 het 2976.44 250 1 247614386 . T C 2976.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.355;DP=250;DS;Dels=0.00;FS=0.985;HRun=1;HaplotypeScore=1.9318;MQ=59.00;MQ0=0;MQRankSum=-0.137;QD=11.91;ReadPosRankSum=-1.618;VQSLOD=6.2599;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:139,111:250:99:3006,0,3867 1 247614407 247614407 G A exonic OR2B11 nonsynonymous SNV OR2B11:NM_001004492:exon1:c.C878T:p.T293I 0.11 0.2 0.18 0.001 0.13 0.043 0.1286 0.2021 0.1468 0.0013 0.1261 0.1401 0.1304 0.0625 0.16 0.2 0.15 0.12 0.16 rs12065526 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.996 0.232 P -3.8 0.000 N 2.05 0.207 T 4.74 0.000 N 0.088 0.084 -0.985 0.340 T 0.000 0.000 T . . . -0.036 0.090 2.255 0.618 0.066 0.008 0.033 N c -1.130 -0.755 0.999 0.381 0.487 0.133 0 5.09 0.685 5.674 0.676 0.236 0.261 1.000 0.715 0.931 0.405 9.414 0.375 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1287 0.2042 0.1539 0.1678 0.0015 0.1281 0.1422 0.1248 0.0633 0.1481 0.2041 0.1687 0.1933 0.0019 0.1228 0.1368 0.1224 het 3051.59 250 1 247614407 . G A 3051.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.058;DP=250;DS;Dels=0.00;FS=3.686;HRun=0;HaplotypeScore=2.8385;MQ=58.97;MQ0=0;MQRankSum=0.852;QD=12.21;ReadPosRankSum=-0.564;VQSLOD=6.1434;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:138,112:250:99:3082,0,4101 1 247614553 247614553 C T exonic OR2B11 synonymous SNV OR2B11:NM_001004492:exon1:c.G732A:p.T244T 0.11 0.19 0.18 0.001 0.13 0.044 0.1273 0.1976 0.1472 0.0017 0.1262 0.1412 0.1244 0.0741 0.16 0.2 0.14 0.12 0.16 rs12086048 COSM328601 11(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1269 0.1995 0.1540 0.1591 0.0017 0.1270 0.1416 0.1312 0.0673 0.1464 0.1988 0.1699 0.1755 0.0025 0.1226 0.1366 0.1230 het 2464.85 193 1 247614553 . C T 2464.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.522;DP=193;DS;Dels=0.00;FS=2.583;HRun=0;HaplotypeScore=5.9570;MQ=59.78;MQ0=0;MQRankSum=-0.325;QD=12.77;ReadPosRankSum=-1.940;VQSLOD=4.2180;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:98,95:193:99:2495,0,2441 1 247614693 247614693 C T exonic OR2B11 nonsynonymous SNV OR2B11:NM_001004492:exon1:c.G592A:p.V198M 0.9 0.62 0.97 1. 1. 1. 0.9695 0.6787 0.9826 1 1 0.9983 0.9790 0.9981 0.9 0.7 1. 0.85 0.97 rs6695302 . . . . . . . . . . . . . 0.23 0.183 T 0.007 0.131 B 0.009 0.133 B 0.672 0.060 N 1 0.090 P 1.025 0.256 L 8.62 0.002 T -0.44 0.146 N 0.036 0.016 -0.923 0.452 T 0.000 0.000 T . . . -0.559 0.052 0.158 0.816 0.133 0.008 0.031 N c -1.065 -1.132 0.373 0.199 0.487 0.133 0 -1.39 0.085 -3.641 0.005 0.059 0.165 0.000 0.063 0.002 0.062 5.376 0.154 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9756 0.6741 0.9809 0.9980 1 1 0.9983 0.9816 0.9980 0.9097 0.6840 0.9809 0.9934 1 1 0.9989 0.9908 hom 2560.96 77 1 247614693 . C T 2560.96 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=33.26;VQSLOD=9.9863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2594,220,0 1 247614896 247614896 A C exonic OR2B11 nonsynonymous SNV OR2B11:NM_001004492:exon1:c.T389G:p.I130S 0.37 0.12 0.34 0.45 0.47 0.55 0.4321 0.1605 0.3554 0.4556 0.3837 0.4543 0.4525 0.5733 0.36 0.17 0.46 0.34 0.48 rs11583410 COSM3751085 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.998 0.715 D 0.905 0.625 P 0.000 0.559 D 0.010 0.410 P 4.12 0.975 H 0.26 0.593 T -5.34 0.846 D 0.422 0.479 -0.959 0.394 T 0.000 0.000 T . . . 5.103 0.688 25.3 0.995 0.650 0.984 0.821 D c 0.899 0.764 1.000 0.747 0.487 0.133 0 4.96 0.650 6.817 0.749 1.187 0.908 1.000 0.715 0.998 0.697 12.924 0.575 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4326 0.1559 0.3553 0.5225 0.4531 0.3699 0.4552 0.4503 0.5749 0.3585 0.1692 0.3873 0.5 0.4752 0.3712 0.4446 0.4233 het 1819.77 146 1 247614896 . A C 1819.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.656;DP=146;Dels=0.00;FS=9.305;HRun=0;HaplotypeScore=4.0511;MQ=58.95;MQ0=0;MQRankSum=-1.193;QD=12.46;ReadPosRankSum=-2.165;VQSLOD=3.2944;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,66:146:99:1850,0,2172 1 247654498 247654498 G A exonic OR2W5 synonymous SNV OR2W5:NM_001004698:exon1:c.G69A:p.L23L 0.13 0.15 0.22 0.029 0.19 0.081 0.1755 0.1463 0.2444 0.0278 0.2287 0.2053 0.1729 0.0816 0.19 0.15 0.21 0.14 0.15 rs61070846 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1814 0.1455 0.2430 0.1990 0.0277 0.2346 0.2065 0.1831 0.0824 0.1867 0.1565 0.2458 0.2185 0.0243 0.2298 0.2073 0.1945 het 1375.63 102 1 247654498 . G A 1375.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.453;DP=102;Dels=0.00;FS=4.921;HRun=0;HaplotypeScore=0.9933;MQ=59.09;MQ0=0;MQRankSum=-1.004;QD=13.49;ReadPosRankSum=0.683;VQSLOD=5.3415;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,51:102:99:1406,0,1430 1 247654993 247654993 T C exonic OR2W5 synonymous SNV OR2W5:NM_001004698:exon1:c.T564C:p.S188S 0.32 0.45 0.25 0.27 0.32 0.26 0.2944 0.4407 0.2165 0.3040 0.2768 0.2963 0.2914 0.2510 0.35 0.44 0.3 0.39 0.32 rs10925061 COSM4415568 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2912 0.4407 0.2224 0.3720 0.3045 0.2727 0.2960 0.3124 0.2505 0.3348 0.4415 0.2620 0.3377 0.3092 0.2804 0.2932 0.3184 het 4134.09 244 1 247654993 . T C 4134.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.932;DP=244;DS;Dels=0.00;FS=1.552;HRun=1;HaplotypeScore=3.8056;MQ=59.64;MQ0=0;MQRankSum=-0.642;QD=16.87;ReadPosRankSum=-0.477;VQSLOD=5.6602;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:123,121:244:99:3486,0,3555 1 247655275 247655275 T C exonic OR2W5 synonymous SNV OR2W5:NM_001004698:exon1:c.T846C:p.H282H 0.32 0.46 0.24 0.26 0.32 0.26 0.2956 0.4560 0.2165 0.2989 0.2769 0.2969 0.2909 0.2510 0.35 0.45 0.3 0.4 0.32 rs12141850 COSM4416243 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2926 0.4528 0.2246 0.3727 0.2989 0.2729 0.2969 0.3152 0.2516 0.3635 0.4872 0.2707 0.3627 0.3354 0.2854 0.3200 0.3406 het 4143.84 229 1 247655275 . T C 4143.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.397;DP=229;DS;Dels=0.00;FS=6.876;HRun=0;HaplotypeScore=5.8101;MQ=59.35;MQ0=0;MQRankSum=-1.078;QD=18.10;ReadPosRankSum=-0.666;VQSLOD=3.3500;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:97,131:229:99:3580,0,2480 1 247695612 247695612 G A exonic OR2C3 nonsynonymous SNV OR2C3:NM_198074:exon2:c.C202T:p.P68S 1. 0.99 1. 1. 1. 1. 0.9995 0.9949 0.9992 1 1 1.0000 1 1 1. 0.99 1. 0.99 1. rs6657127 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.374 N 0.000 0.810 P -3.165 0.000 N 5.49 0.010 T 4.88 0.000 N 0.21 0.258 -0.987 0.333 T 0.000 0.000 T . . . 0.656 0.157 8.535 0.808 0.129 0.011 0.040 N c -1.366 -1.026 0.062 0.153 0.487 0.133 0 4.04 0.461 0.897 0.278 0.117 0.209 0.180 0.238 0.991 0.552 7.934 0.289 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9996 0.9950 0.9992 1 1 1 1 0.9996 0.9999 0.9980 0.9932 0.9988 1 1 1 1 0.9990 hom 4594.40 150 1 247695612 . G A 4594.40 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6075;MQ=58.88;MQ0=0;QD=30.63;VQSLOD=9.2184;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,149:150:99:4594,376,0 1 247695756 247695756 T C exonic OR2C3 nonsynonymous SNV OR2C3:NM_198074:exon2:c.A58G:p.T20A 0.98 0.92 0.99 1. 1. 1. 0.9925 0.9278 0.9945 0.9999 1 0.9988 0.9879 0.9994 0.97 0.93 1. 0.96 1. rs6697472 . . . . . . . . . . . . . 0.046 0.405 D 0.0 0.026 B 0.0 0.013 B 0.473 0.122 N 1.000 0.090 P 0.255 0.098 N 8.13 0.003 T -0.57 0.172 N 0.004 0.000 -0.912 0.466 T 0.000 0.000 T . . . -0.105 0.084 1.695 0.923 0.211 0.001 0.006 N c -1.134 -1.133 0.000 0.029 0.487 0.133 0 2.04 0.257 -1.409 0.026 -0.019 0.130 0.000 0.063 0.254 0.228 3.392 0.068 . . . 0.9939 0.9290 0.9943 0.9989 0.9999 1 0.9987 0.9923 0.9992 0.9817 0.9371 0.9976 1 1 1 0.9991 0.9969 hom 3493.62 112 1 247695756 . T C 3493.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.639;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7074;MQ=59.38;MQ0=0;MQRankSum=-1.330;QD=31.19;ReadPosRankSum=0.804;VQSLOD=9.0788;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,111:112:99:3471,288,0 1 247752019 247752019 G C exonic OR2G2 nonsynonymous SNV OR2G2:NM_001001915:exon1:c.G358C:p.V120L 0.58 0.16 0.67 0.76 0.71 0.75 0.6779 0.2338 0.7268 0.7922 0.6824 0.7043 0.6806 0.7552 0.55 0.25 0.71 0.56 0.69 rs1151687 COSM1178405 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(meninges) . . . . . . . . . . . 0.004 0.654 D 0.112 0.247 B 0.082 0.276 B 0.007 0.317 U 1.000 0.090 P 1.74 0.453 L 3.49 0.051 T -2.41 0.529 N 0.254 0.310 -1.090 0.055 T 0.000 0.000 T . . . 3.201 0.444 22.7 0.990 0.495 0.146 0.183 N c -0.403 -0.407 0.000 0.029 0.487 0.133 0 3.37 0.375 0.999 0.292 0.702 0.300 0.005 0.169 0.005 0.090 9.752 0.395 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236817.1 Testis 0.6895 0.2289 0.7226 0.7529 0.7973 0.6759 0.7041 0.7022 0.7563 0.5805 0.2417 0.7249 0.78 0.8083 0.6761 0.7120 0.6843 het 4236.99 250 1 247752019 . G C 4236.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.559;DP=250;DS;Dels=0.00;FS=2.266;HRun=0;HaplotypeScore=6.9711;MQ=59.14;MQ0=0;MQRankSum=0.011;QD=16.95;ReadPosRankSum=-0.128;VQSLOD=4.4763;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,125:250:99:3565,0,3564 1 247752161 247752161 T C exonic OR2G2 nonsynonymous SNV OR2G2:NM_001001915:exon1:c.T500C:p.L167P 0.31 0.058 0.35 0.52 0.41 0.28 0.3623 0.0934 0.3757 0.5234 0.3677 0.3998 0.3720 0.2839 0.3 0.11 0.4 0.29 0.36 rs10925085 . . . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.99 0.774 D 0.009 0.307 U 0.726 0.299 P 2.745 0.805 M 8.48 0.002 T -5.75 0.877 D 0.385 0.445 -1.097 0.044 T 0.000 0.000 T . . . 5.180 0.699 25.5 0.999 0.945 0.063 0.122 N c 0.320 0.159 0.001 0.085 0.487 0.133 0 4.29 0.502 -0.859 0.044 -0.610 0.043 0.000 0.063 0.000 0.016 11.468 0.493 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3692 0.0910 0.3731 0.4432 0.5246 0.3712 0.3982 0.3897 0.2827 0.3124 0.1043 0.4031 0.4371 0.5136 0.3743 0.3850 0.3880 hom 7966.96 250 1 247752161 . T C 7966.96 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.2176;MQ=59.14;MQ0=0;QD=31.87;VQSLOD=7.4302;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7965,671,0 1 247752367 247752367 A G exonic OR2G2 nonsynonymous SNV OR2G2:NM_001001915:exon1:c.A706G:p.R236G 0.39 0.31 0.34 0.44 0.52 0.34 0.4545 0.3176 0.2946 0.4652 0.5493 0.5070 0.4879 0.3948 0.44 0.31 0.5 0.35 0.44 rs869111 COSM3997392 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.368 N 1.000 0.090 P -2.92 0.000 N 9.24 0.000 T 6.57 0.000 N 0.035 0.015 -1.023 0.228 T 0.000 0.000 T . . . -0.348 0.065 0.515 0.439 0.033 0.001 0.009 N c -1.488 -1.289 0.000 0.046 0.487 0.133 0 4.29 0.502 0.491 0.220 -0.097 0.117 0.016 0.191 0.000 0.016 10.187 0.420 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4527 0.3150 0.3041 0.4826 0.4726 0.5456 0.5049 0.4834 0.4001 0.4476 0.3136 0.3652 0.4934 0.4623 0.5561 0.4994 0.4939 het 2030.37 166 1 247752367 . A G 2030.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.041;DP=166;Dels=0.00;FS=15.539;HRun=2;HaplotypeScore=1.3990;MQ=60.00;MQ0=0;MQRankSum=-0.955;QD=12.23;ReadPosRankSum=0.188;VQSLOD=3.7500;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,77:166:99:2060,0,2534 1 247769752 247769752 A G exonic OR2G3 nonsynonymous SNV OR2G3:NM_001001914:exon1:c.A865G:p.I289V 0.34 0.23 0.31 0.43 0.44 0.3 0.3979 0.2460 0.2659 0.4538 0.4862 0.4370 0.4259 0.3604 0.36 0.24 0.42 0.28 0.39 rs61730407 COSM3997393 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.013 0.538 D 0.992 0.629 D 0.994 0.807 D 0.002 0.370 U 1.000 0.205 P 2.05 0.567 M 0.68 0.520 T -0.94 0.251 N 0.118 0.130 -0.969 0.374 T 0.000 0.000 T . . . 2.848 0.403 21.6 0.998 0.919 0.260 0.226 N c 0.330 0.166 0.000 0.012 0.487 0.133 0 3.65 0.408 0.650 0.244 0.761 0.310 0.118 0.229 0.996 0.625 10.591 0.443 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3974 0.2405 0.2728 0.4614 0.4618 0.4864 0.4312 0.4278 0.3647 0.3818 0.2374 0.3170 0.4868 0.4597 0.4963 0.4287 0.4335 het 920.76 94 1 247769752 . A G 920.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.962;DP=94;Dels=0.00;FS=0.777;HRun=0;HaplotypeScore=3.8427;MQ=58.16;MQ0=0;MQRankSum=1.570;QD=9.80;ReadPosRankSum=-0.749;VQSLOD=4.9705;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,42:94:99:951,0,1345 1 247835950 247835950 T C exonic OR13G1 nonsynonymous SNV OR13G1:NM_001005487:exon1:c.A394G:p.I132V 0.41 0.13 0.59 0.6 0.42 0.43 0.4453 0.1626 0.6833 0.6035 0.4018 0.4342 0.4281 0.4382 0.34 0.17 0.42 0.34 0.43 rs1151640 COSM1341001 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.206 0.199 T 0.002 0.090 B 0.006 0.112 B 0.450 0.125 N 1 0.090 P 1.055 0.270 L 5.83 0.007 T -0.32 0.123 N 0.045 0.052 -1.077 0.078 T 0.000 0.000 T . . . -1.000 0.032 0.016 0.738 0.101 0.053 0.110 N c -1.180 -1.270 0.000 0.012 0.487 0.133 0 -3.4 0.045 0.155 0.161 0.858 0.375 0.003 0.159 0.062 0.172 5.921 0.182 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000197437.2 Testis 0.4575 0.1559 0.6677 0.4220 0.5980 0.4103 0.4332 0.4492 0.4353 0.3637 0.1613 0.6098 0.4564 0.5714 0.4024 0.4306 0.4264 hom 3523.64 102 1 247835950 . T C 3523.64 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;QD=34.55;VQSLOD=9.9857;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3523,277,0 1 247875314 247875314 C A exonic OR6F1 synonymous SNV OR6F1:NM_001005286:exon1:c.G744T:p.V248V 0.034 0.0045 0.063 0.002 0.074 0.043 0.0547 0.0139 0.0377 0.0003 0.0738 0.0713 0.0639 0.0457 0.052 0.013 0.072 0.054 0.074 rs41268353 COSM4143633 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0571 0.0125 0.0434 0.1180 0.0002 0.0703 0.0699 0.0707 0.0483 0.0485 0.0126 0.0537 0.1126 0.0019 0.0713 0.0672 0.0540 het 1500.51 155 1 247875314 . C A 1500.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.589;DP=155;Dels=0.00;FS=7.417;HRun=1;HaplotypeScore=0.8941;MQ=59.19;MQ0=0;MQRankSum=0.127;QD=9.68;ReadPosRankSum=0.175;VQSLOD=4.2128;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,59:155:99:1531,0,2946 1 247875415 247875415 A G exonic OR6F1 nonsynonymous SNV OR6F1:NM_001005286:exon1:c.T643C:p.F215L 0.35 0.69 0.2 0.24 0.21 0.26 0.2534 0.6228 0.1299 0.2434 0.1664 0.2284 0.2335 0.2494 0.36 0.6 0.23 0.47 0.3 rs2282316 COSM146849 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.997 0.019 T 0.0 0.026 B 0.0 0.013 B 0.004 0.341 N 1 0.090 P -1.87 0.003 N 9.09 0.000 T 1.98 0.004 N 0.025 0.009 -0.882 0.497 T 0.000 0.000 T . . . -1.624 0.014 0.002 0.376 0.025 0.009 0.036 N c -1.798 -1.754 0.000 0.012 0.554 0.246 0 -1.83 0.074 -1.940 0.016 -1.111 0.018 0.000 0.063 0.000 0.016 2.261 0.038 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2410 0.6261 0.1459 0.2848 0.2396 0.1651 0.2265 0.2286 0.2498 0.3223 0.6108 0.1623 0.2517 0.2367 0.1651 0.2176 0.2210 het 2405.48 204 1 247875415 . A G 2405.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.087;DP=204;Dels=0.00;FS=2.438;HRun=2;HaplotypeScore=4.5506;MQ=59.38;MQ0=0;MQRankSum=2.662;QD=11.79;ReadPosRankSum=-0.183;VQSLOD=4.7777;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:116,88:204:99:2435,0,3271 1 247875608 247875608 C G exonic OR6F1 synonymous SNV OR6F1:NM_001005286:exon1:c.G450C:p.V150V 0.33 0.61 0.21 0.22 0.23 0.23 0.2624 0.5500 0.1319 0.2324 0.2401 0.2570 0.2522 0.2210 0.35 0.54 0.26 0.46 0.26 rs6587382 COSM146850 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2531 0.5556 0.1477 0.2940 0.2292 0.2399 0.2548 0.2446 0.2237 0.3277 0.5454 0.1567 0.2682 0.2265 0.2340 0.2492 0.2566 het 2015.83 128 1 247875608 . C G 2015.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.304;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.76;MQ0=0;MQRankSum=0.106;QD=15.75;ReadPosRankSum=-1.248;VQSLOD=5.5732;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,75:128:99:2046,0,1469 1 247875689 247875689 A G exonic OR6F1 synonymous SNV OR6F1:NM_001005286:exon1:c.T369C:p.C123C 0.16 0.18 0.13 0.22 0.12 0.13 0.1319 0.1816 0.0792 0.2343 0.1034 0.1201 0.1391 0.1429 0.14 0.18 0.12 0.23 0.13 rs7512807 COSM1178406 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1306 0.1822 0.0892 0.1594 0.2315 0.0998 0.1201 0.1275 0.1455 0.1389 0.1801 0.0919 0.1424 0.2272 0.0987 0.1187 0.1163 het 1334.69 89 1 247875689 . A G 1334.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.495;DP=89;Dels=0.00;FS=17.599;HRun=1;HaplotypeScore=2.3548;MQ=59.17;MQ0=0;MQRankSum=0.464;QD=15.00;ReadPosRankSum=-0.849;VQSLOD=3.1002;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,45:89:99:1365,0,1207 1 247921100 247921100 T G exonic OR1C1 synonymous SNV OR1C1:NM_012353:exon1:c.A609C:p.G203G 0.73 0.45 0.88 0.77 0.91 0.79 0.8463 0.4934 0.9230 0.7571 0.9466 0.8949 0.8641 0.8101 0.77 0.52 0.89 0.71 0.83 rs1552812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8549 0.4889 0.9147 0.8476 0.7604 0.9481 0.8944 0.8812 0.8121 0.787 0.5058 0.9091 0.8808 0.7651 0.9522 0.8990 0.8778 hom 2467.48 79 1 247921100 . T G 2467.48 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.42;MQ0=0;QD=31.23;VQSLOD=9.3898;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2500,205,0 1 247921352 247921352 C T exonic OR1C1 synonymous SNV OR1C1:NM_012353:exon1:c.G357A:p.A119A 0.84 0.58 0.92 0.99 0.96 0.88 0.9195 0.6196 0.9607 0.9901 0.9763 0.9443 0.9433 0.9074 0.84 0.63 0.94 0.8 0.9 rs1552813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9262 0.6166 0.9586 0.8902 0.9905 0.9776 0.9460 0.9365 0.9097 0.8662 0.6319 0.9535 0.92 0.9895 0.9794 0.9521 0.9358 hom 2728.89 88 1 247921352 . C T 2728.89 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=31.01;VQSLOD=9.2916;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2762,220,0 1 247921412 247921412 G C exonic OR1C1 synonymous SNV OR1C1:NM_012353:exon1:c.C297G:p.T99T 0.031 0.02 0.053 0.001 0.063 0.029 0.0477 0.0245 0.0315 0.0003 0.0690 0.0615 0.0611 0.0324 0.049 0.023 0.061 0.065 0.066 rs41304163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0498 0.0251 0.0365 0.1130 0.0002 0.0667 0.0596 0.0620 0.0342 0.0461 0.0240 0.0465 0.1093 0.0018 0.0684 0.0570 0.0509 het 875.34 81 1 247921412 . G C 875.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.565;DP=81;Dels=0.00;FS=2.965;HRun=0;HaplotypeScore=3.9804;MQ=59.10;MQ0=0;MQRankSum=1.249;QD=10.81;ReadPosRankSum=-0.455;VQSLOD=5.0614;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,34:81:99:905,0,1398 1 247978319 247978319 A G exonic OR14A16 nonsynonymous SNV OR14A16:NM_001001966:exon1:c.T713C:p.I238T 1. 1. 1. 1. 1. 1. 0.9997 0.9967 0.9995 1 1 1.0000 1 1 1. 1. 1. 0.99 1. rs6695283 . . . . . . . . . . . . . 1.0 0.010 T 0.004 0.112 B 0.002 0.063 B 0.000 0.466 N 0.997 0.229 P -3.41 0.000 N 1.48 0.317 T 5.58 0.000 N 0.082 0.075 -0.960 0.393 T 0.000 0.000 T . . . -0.151 0.080 1.378 0.175 0.005 0.004 0.019 N c -1.352 -1.091 0.011 0.121 0.500 0.196 0 3.84 0.433 3.451 0.525 -0.058 0.122 0.998 0.411 0.006 0.095 11.403 0.489 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9997 0.9965 0.9995 1 1 1 1 0.9996 0.9999 0.9986 0.9953 0.9976 1 1 1 1 0.9990 hom 1834.58 58 1 247978319 . A G 1834.58 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=58.55;MQ0=0;QD=31.63;VQSLOD=9.2653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1868,144,0 1 247978542 247978544 AGG - exonic OR14A16 nonframeshift deletion OR14A16:NM_001001966:exon1:c.488_490del:p.S163del 0.72 0.22 0.82 0.99 0.88 0.9 0.8424 0.3014 0.9013 0.9907 0.9241 0.8733 0.8722 0.9043 0.68 0.32 0.87 0.022 . rs375198428 COSM5713052 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8535 0.2921 0.8941 0.8059 0.9924 0.9249 0.8744 0.8404 0.9006 0.7294 0.3064 0.8687 0.8311 0.9895 0.9225 0.8838 0.8684 het 4446.76 224 1 247978541 . AAGG A 4446.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=11.804;DP=224;FS=8.761;HRun=0;HaplotypeScore=885.3411;MQ=57.29;MQ0=0;MQRankSum=-1.318;QD=19.85;ReadPosRankSum=1.339;set=variant2 GT:AD:DP:GQ:PL 0/1:123,101:224:99:4447,0,7529 1 247978996 247978996 A G exonic OR14A16 synonymous SNV OR14A16:NM_001001966:exon1:c.T36C:p.L12L 0.85 0.54 0.9 1. 0.92 0.99 0.9140 0.5986 0.9373 0.9995 0.9513 0.9260 0.9187 0.9775 0.82 0.61 0.93 0.8 0.82 rs10888249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9173 0.5903 0.9310 0.8662 0.9997 0.9509 0.9281 0.8985 0.9751 0.8395 0.5891 0.9041 0.8733 0.9981 0.9476 0.9323 0.9257 het 465.48 39 1 247978996 . A G 465.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.113;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=59.04;MQ0=0;MQRankSum=0.155;QD=11.94;ReadPosRankSum=0.634;VQSLOD=6.7563;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,18:39:99:495,0,551 1 248004296 248004296 A G exonic OR11L1 synonymous SNV OR11L1:NM_001001959:exon1:c.T903C:p.V301V 0.15 0.36 0.13 0.004 0.1 0.075 0.1083 0.3378 0.0631 0.0025 0.0755 0.1079 0.0806 0.0671 0.19 0.34 0.12 0.15 0.11 rs6681483 COSM5983411 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1027 0.3409 0.0675 0.1129 0.0016 0.0729 0.1104 0.1065 0.0693 0.1627 0.3439 0.0943 0.0933 0.0012 0.0647 0.1061 0.1166 het 1795.27 148 1 248004296 . A G 1795.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.343;DP=148;Dels=0.00;FS=3.909;HRun=0;HaplotypeScore=1.8936;MQ=59.55;MQ0=0;MQRankSum=0.431;QD=12.13;ReadPosRankSum=-0.692;VQSLOD=6.4408;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,69:148:99:1825,0,2255 1 248004614 248004614 G A exonic OR11L1 synonymous SNV OR11L1:NM_001001959:exon1:c.C585T:p.T195T 0.85 0.62 0.87 1. 0.9 0.93 0.8915 0.6540 0.9364 0.9975 0.9246 0.8929 0.9194 0.9332 0.8 0.65 0.88 0.84 0.84 rs6667389 COSM4143635 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8970 0.6496 0.9320 0.8872 0.9984 0.9272 0.8904 0.8935 0.9310 0.8350 0.6469 0.9033 0.9133 0.9988 0.9353 0.8948 0.8806 het 4274.42 249 1 248004614 . G A 4274.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.144;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9228;MQ=59.23;MQ0=0;MQRankSum=0.641;QD=17.17;ReadPosRankSum=0.445;VQSLOD=3.9647;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,129:249:99:3632,0,3033 1 248004687 248004687 C G exonic OR11L1 nonsynonymous SNV OR11L1:NM_001001959:exon1:c.G512C:p.R171P 0.87 0.71 0.87 1. 0.9 0.93 0.8983 0.7270 0.9405 0.9975 0.9246 0.8931 0.9240 0.9334 0.83 0.73 0.88 0.86 0.88 rs10888255 COSM4143636 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.049 0.231 N 1.000 0.198 P -1.55 0.005 N 1.29 0.358 T 4.83 0.000 N 0.053 0.035 -0.964 0.384 T 0.000 0.000 T . . . 0.863 0.176 9.848 0.192 0.006 0.004 0.019 N c -1.207 -1.005 0.000 0.029 0.487 0.133 0 4.27 0.498 1.912 0.393 0.097 0.197 0.021 0.196 0.083 0.182 9.062 0.354 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9024 0.7239 0.9360 0.8875 0.9984 0.9272 0.8906 0.8968 0.9312 0.8555 0.7184 0.9045 0.9073 0.9988 0.9355 0.8955 0.8824 het 3012.88 206 1 248004687 . C G 3012.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.922;DP=206;DS;Dels=0.00;FS=9.352;HRun=1;HaplotypeScore=3.7428;MQ=57.72;MQ0=0;MQRankSum=0.490;QD=14.63;ReadPosRankSum=0.618;VQSLOD=4.0931;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:104,102:206:99:3043,0,2866 1 248004775 248004775 C T exonic OR11L1 nonsynonymous SNV OR11L1:NM_001001959:exon1:c.G424A:p.A142T 0.89 0.78 0.88 1. 0.9 0.93 0.9033 0.7806 0.9435 0.9975 0.9244 0.8933 0.9249 0.9333 0.85 0.78 0.88 0.92 0.89 rs10888256 . . . . . . . . . . . . . 0.51 0.075 T 0.0 0.026 B 0.01 0.139 B 0.926 0.084 N 1 0.090 P 1.345 0.336 L 1.18 0.377 T 0.72 0.021 N 0.011 0.001 -0.988 0.331 T 0.000 0.000 T . . . -0.622 0.049 0.110 0.258 0.012 0.011 0.040 N c -1.401 -1.379 0.000 0.012 0.487 0.133 0 1.79 0.239 -4.585 0.002 -0.260 0.088 0.000 0.063 0.003 0.074 9.314 0.369 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9064 0.7782 0.9392 0.8873 0.9984 0.9272 0.8909 0.8986 0.9312 0.8711 0.7729 0.9069 0.9073 0.9988 0.9353 0.8956 0.8859 het 1480.30 147 1 248004775 . C T 1480.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.246;DP=147;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=57.31;MQ0=0;MQRankSum=3.402;QD=10.07;ReadPosRankSum=-1.286;VQSLOD=3.8556;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,58:147:99:1510,0,2724 1 248004848 248004848 G C exonic OR11L1 nonsynonymous SNV OR11L1:NM_001001959:exon1:c.C351G:p.F117L 0.89 0.78 0.88 1. 0.9 0.93 0.9033 0.7810 0.9437 0.9973 0.9247 0.8937 0.9244 0.9321 0.85 0.78 0.88 0.92 0.89 rs4607924 COSM4143637 1(thyroid) . . . . . . . . . . . 0.093 0.315 T 0.0 0.026 B 0.0 0.013 B 0.351 0.138 U 1.000 0.090 P -0.55 0.024 N 5.03 0.013 T 1.39 0.009 N 0.045 0.025 -0.993 0.318 T 0.000 0.000 T . . . 0.389 0.131 6.513 0.933 0.224 0.013 0.045 N c -1.180 -1.150 0.000 0.012 0.487 0.133 0 1.29 0.206 -0.968 0.039 -1.763 0.007 0.000 0.063 0.006 0.095 9.089 0.356 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9064 0.7784 0.9392 0.8872 0.9983 0.9272 0.8912 0.8987 0.9301 0.8713 0.7736 0.9069 0.9073 0.9988 0.9353 0.8956 0.8859 het 1314.42 79 1 248004848 . G C 1314.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.875;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7318;MQ=57.62;MQ0=0;MQRankSum=0.349;QD=16.64;ReadPosRankSum=1.481;VQSLOD=3.8760;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,43:79:99:1344,0,1052 1 248004877 248004877 C T exonic OR11L1 nonsynonymous SNV OR11L1:NM_001001959:exon1:c.G322A:p.G108S 0.87 0.71 0.87 1. 0.9 0.93 0.8983 0.7274 0.9407 0.9974 0.9246 0.8935 0.9226 0.9319 0.83 0.73 0.88 0.86 0.89 rs10888257 . . . . . . . . . . . . . 0.02 0.496 D 0.998 0.715 D 0.892 0.615 P 0.002 0.369 U 0.996 0.232 P 1.49 0.374 L 4.44 0.022 T -3.6 0.693 D 0.073 0.062 -0.950 0.410 T 0.000 0.000 T . . . 1.578 0.251 13.73 0.955 0.265 0.126 0.172 N c -0.279 -0.482 0.002 0.087 0.487 0.133 0 3.29 0.366 0.273 0.183 0.033 0.151 0.000 0.063 0.000 0.016 10.106 0.415 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9025 0.7246 0.9360 0.8873 0.9984 0.9273 0.8910 0.8967 0.9298 0.8559 0.7195 0.9045 0.9073 0.9988 0.9356 0.8955 0.8827 het 1103.19 77 1 248004877 . C T 1103.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.921;DP=77;Dels=0.00;FS=4.383;HRun=0;HaplotypeScore=3.8770;MQ=58.61;MQ0=0;MQRankSum=1.972;QD=14.33;ReadPosRankSum=-1.676;VQSLOD=4.4292;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,38:77:99:1133,0,1041 1 248004884 248004884 T C exonic OR11L1 synonymous SNV OR11L1:NM_001001959:exon1:c.A315G:p.V105V 0.96 0.89 0.95 1. 0.96 1. 0.9691 0.9041 0.9731 1 0.9901 0.9665 0.98 0.9924 0.94 0.9 0.96 0.96 0.98 rs1339845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9702 0.9028 0.9713 0.9553 0.9999 0.9917 0.9657 0.9646 0.9924 0.9523 0.8954 0.9570 0.9603 1 0.9914 0.9697 0.9653 het 724.02 71 1 248004884 . T C 724.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.398;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=59.15;MQ0=0;MQRankSum=-0.146;QD=10.20;ReadPosRankSum=-0.357;VQSLOD=6.4858;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,29:71:99:754,0,1118 1 248039451 248039451 C T exonic TRIM58 nonsynonymous SNV TRIM58:NM_015431:exon6:c.C1121T:p.T374M 0.23 0.04 0.29 0.23 0.34 0.31 0.3049 0.0811 0.2726 0.2429 0.3472 0.3399 0.2963 0.3429 0.26 0.089 0.35 0.17 0.42 rs3811444 COSM146852 1(stomach);1(pancreas);2(large_intestine) . . . . . Platelet counts . -3.35 22139419 rs3811444 6E-9 0.211 0.195 T 0.999 0.764 D 0.964 0.693 D 0.027 0.258 N 1.000 0.200 P 2.065 0.569 M -0.4 0.693 T -1.24 0.314 N 0.104 0.109 -1.046 0.154 T 0.000 0.000 T . . . 2.547 0.367 19.77 0.985 0.418 0.080 0.138 N c -0.349 -0.582 0.000 0.035 0.554 0.246 0 2.21 0.269 -0.508 0.064 0.069 0.176 0.000 0.063 0.001 0.043 4.515 0.113 B30.2/SPRY domain|Concanavalin A-like lectin/glucanase domain|SPRY domain ENSG00000197067.4 Whole_Blood 0.3116 0.0784 0.2887 0.3773 0.2420 0.3457 0.3387 0.3169 0.3468 0.2621 0.0887 0.3058 0.3477 0.2494 0.3399 0.3397 0.2986 hom 4297.19 134 1 248039451 . C T 4297.19 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6609;MQ=58.78;MQ0=0;QD=32.07;VQSLOD=9.0235;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4297,343,0 1 248039713 248039713 A G exonic TRIM58 synonymous SNV TRIM58:NM_015431:exon6:c.A1383G:p.T461T 0.58 0.53 0.71 0.54 0.59 0.61 0.6086 0.5697 0.7059 0.5830 0.6007 0.5910 0.6189 0.6523 0.59 0.57 0.59 0.6 0.63 rs3811445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6126 0.5721 0.7046 0.6356 0.5777 0.6000 0.5860 0.5832 0.6551 0.5878 0.5763 0.7050 0.6457 0.5713 0.6040 0.5863 0.5637 hom 5314.91 166 1 248039713 . A G 5314.91 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2558;MQ=59.64;MQ0=0;QD=32.02;VQSLOD=8.1456;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5314,433,0 1 248059353 248059355 CTC - exonic OR2W3 nonframeshift deletion OR2W3:NM_001001957:exon1:c.465_467del:p.S156del 0.021 0.0023 0.036 . 0.048 0.029 0.0361 0.0075 0.0152 0 0.0398 0.0487 0.0298 0.0359 0.036 0.0096 0.05 . . rs147816311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0366 0.0071 0.0199 0.0317 5.798e-05 0.0422 0.0503 0.0357 0.0378 0.0341 0.0097 0.0277 0.0397 0 0.0419 0.0502 0.0369 het 3372.28 140 1 248059352 . ACTC A 3372.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.762;DP=140;FS=2.159;HRun=0;HaplotypeScore=623.7077;MQ=54.68;MQ0=0;MQRankSum=-3.657;QD=23.92;ReadPosRankSum=-0.366;set=variant2 GT:AD:DP:GQ:PL 0/1:64,77:140:99:3372,0,3983 1 248059423 248059423 C T exonic OR2W3 nonsynonymous SNV OR2W3:NM_001001957:exon1:c.C535T:p.R179C 0.39 0.14 0.35 0.57 0.53 0.42 0.4775 0.2189 0.3453 0.5547 0.5681 0.5357 0.4956 0.4202 0.43 0.23 0.53 0.34 0.49 rs10888267 COSM3751095 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.000 0.629 N 0.995 0.233 P -4.2 0.000 N 2.44 0.152 T 11.5 0.000 N 0.114 0.124 -0.914 0.464 T 0.000 0.000 T . . . 2.231 0.329 17.71 0.129 0.002 0.036 0.087 N c -1.123 -0.728 0.000 0.042 0.487 0.133 0 4.15 0.478 4.589 0.605 0.115 0.208 1.000 0.715 0.991 0.552 8.106 0.299 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000238243.2|ENSG00000177462.6 Thyroid|Thyroid 0.4803 0.2165 0.3533 0.5107 0.5610 0.5766 0.5360 0.4881 0.4224 0.4447 0.2219 0.3849 0.5298 0.5800 0.5645 0.5283 0.5245 het 2585.46 181 1 248059423 . C T 2585.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.770;DP=181;Dels=0.00;FS=1.217;HRun=0;HaplotypeScore=3.7499;MQ=56.99;MQ0=0;MQRankSum=-0.672;QD=14.28;ReadPosRankSum=-0.348;VQSLOD=4.0379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,94:181:99:2615,0,2290 1 248059456 248059456 G A exonic OR2W3 nonsynonymous SNV OR2W3:NM_001001957:exon1:c.G568A:p.V190I 0.36 0.054 0.34 0.53 0.55 0.43 0.4613 0.1234 0.2941 0.5182 0.5620 0.5329 0.4615 0.4316 0.4 0.14 0.54 0.3 0.48 rs12135078 COSM1600163 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(central_nervous_system) . . . . . . . . . . . 0.086 0.326 T 0.145 0.261 B 0.104 0.295 B 0.120 0.190 N 1 0.090 P 1.87 0.498 L 8.76 0.001 T -0.86 0.234 N 0.024 0.007 -1.000 0.298 T 0.000 0.000 T . . . -0.279 0.070 0.741 0.946 0.247 0.027 0.072 N c -0.956 -1.018 0.000 0.012 0.487 0.133 0 0.041 0.135 -1.619 0.021 -0.296 0.082 0.000 0.063 0.004 0.083 4.048 0.092 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4670 0.1165 0.3078 0.5934 0.5206 0.5694 0.5319 0.4867 0.4314 0.4192 0.1269 0.3397 0.6 0.5267 0.5679 0.5376 0.5163 het 3108.61 203 1 248059456 . G A 3108.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.838;DP=203;Dels=0.00;FS=3.257;HRun=0;HaplotypeScore=2.9962;MQ=57.90;MQ0=0;MQRankSum=-0.205;QD=15.31;ReadPosRankSum=0.968;VQSLOD=4.4185;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,110:203:99:3139,0,2441 1 248059476 248059476 A C exonic OR2W3 nonsynonymous SNV OR2W3:NM_001001957:exon1:c.A588C:p.E196D 0.58 0.26 0.6 0.58 0.8 0.75 0.7155 0.3407 0.5147 0.5609 0.8090 0.8092 0.7390 0.7553 0.66 0.36 0.81 0.48 0.84 rs12139390 COSM3997394 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.007 0.599 D 0.999 0.764 D 0.986 0.754 D 0.000 0.629 D 1.000 0.090 P 2.57 0.754 M 8.44 0.002 T -2.83 0.597 D 0.208 0.255 -0.914 0.464 T 0.000 0.000 T . . . 2.158 0.320 17.23 0.995 0.655 0.089 0.146 N c -0.256 -0.540 0.000 0.012 0.487 0.133 0 -2.08 0.068 -1.688 0.020 -0.178 0.104 0.000 0.063 0.001 0.043 11.115 0.473 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7171 0.3343 0.5370 0.8242 0.5624 0.8126 0.8068 0.7456 0.7570 0.6532 0.3453 0.5861 0.8013 0.5754 0.8105 0.7973 0.7643 hom 7011.83 225 1 248059476 . A C 7011.83 Mask AC=2;AF=1.00;AN=2;DP=225;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6021;MQ=57.77;MQ0=0;QD=31.16;VQSLOD=6.3398;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,225:225:99:7010,587,0 1 248059703 248059703 T A exonic OR2W3 nonsynonymous SNV OR2W3:NM_001001957:exon1:c.T815A:p.M272K 0.48 0.26 0.46 0.59 0.67 0.48 0.5747 0.3401 0.4125 0.5714 0.6502 0.6529 0.6073 0.4898 0.55 0.36 0.65 0.42 0.63 rs11204545 COSM4143640 1(oesophagus);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -2.365 0.001 N 8.92 0.000 T 5.83 0.000 N 0.087 0.083 -1.028 0.212 T 0.000 0.000 T . . . 0.168 0.110 4.340 0.601 0.062 0.005 0.023 N c -1.221 -0.929 0.000 0.038 0.487 0.133 0 5.29 0.743 1.086 0.303 0.194 0.250 0.004 0.165 0.985 0.512 9.445 0.377 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000177462.6|ENSG00000177462.6 Nerve_Tibial|Thyroid 0.5776 0.3363 0.4227 0.6629 0.5755 0.6630 0.6552 0.6072 0.4919 0.5519 0.3423 0.4557 0.6589 0.5815 0.6554 0.6446 0.6376 het 2043.75 143 1 248059703 . T A 2043.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.990;DP=143;Dels=0.00;FS=3.610;HRun=1;HaplotypeScore=5.1740;MQ=58.41;MQ0=0;MQRankSum=-0.163;QD=14.29;ReadPosRankSum=-0.331;VQSLOD=4.2486;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,75:143:99:2074,0,1804 1 248059712 248059712 T C exonic OR2W3 nonsynonymous SNV OR2W3:NM_001001957:exon1:c.T824C:p.M275T 0.48 0.26 0.46 0.59 0.67 0.48 0.5799 0.3417 0.4132 0.5727 0.6677 0.6578 0.6150 0.4986 0.55 0.36 0.65 0.43 0.63 rs11204546 COSM4143641 1(oesophagus);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -3.48 0.000 N 8.88 0.000 T 4.11 0.001 N 0.054 0.043 -1.069 0.096 T 0.000 0.000 T . . . -0.635 0.048 0.103 0.239 0.010 0.011 0.040 N c -1.200 -0.913 0.000 0.069 0.487 0.133 0 5.29 0.743 0.260 0.181 -0.389 0.064 0.000 0.063 0.828 0.346 13.231 0.592 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000177462.6 Thyroid 0.5826 0.3377 0.4234 0.6652 0.5762 0.6771 0.6600 0.6116 0.5010 0.5574 0.3433 0.4581 0.6633 0.5817 0.6724 0.6510 0.6430 het 1639.99 134 1 248059712 . T C 1639.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.128;DP=134;Dels=0.00;FS=2.582;HRun=0;HaplotypeScore=8.0514;MQ=58.65;MQ0=0;MQRankSum=-0.169;QD=12.24;ReadPosRankSum=-0.674;VQSLOD=4.6605;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,69:134:99:1670,0,1709 1 248059779 248059779 - A exonic OR2W3 frameshift insertion OR2W3:NM_001001957:exon1:c.892dupA:p.A300Gfs*16 0.13 0.13 0.19 0.032 0.13 0.2 0.1475 0.1333 0.1589 0.0289 0.1367 0.1524 0.1258 0.1966 0.15 0.13 0.16 . . rs112696640 COSM128702 7(upper_aerodigestive_tract);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1453 0.1328 0.1663 0.1309 0.0270 0.1266 0.1506 0.1485 0.1929 0.1357 0.1358 0.1766 0.1159 0.0328 0.1256 0.1478 0.1260 het 1747.89 92 1 248059779 . G GA 1747.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.591;DP=92;FS=11.134;HRun=2;HaplotypeScore=275.0093;MQ=59.67;MQ0=0;MQRankSum=-1.714;QD=18.79;ReadPosRankSum=0.096;set=variant2 GT:AD:DP:GQ:PL 0/1:45,48:92:99:1787,0,1186 1 248112809 248112809 A G exonic OR2L8 nonsynonymous SNV OR2L8:NM_001001963:exon1:c.A650G:p.Y217C 0.76 0.28 0.93 0.88 0.95 0.95 0.8623 0.3430 0.9342 0.7840 0.9627 0.9160 0.8789 0.9221 0.75 0.38 0.94 0.52 0.87 rs4925583 . . . . . . . . . . . . . 0.003 0.682 D 1.0 0.899 D 1.0 0.971 D 0.013 0.289 U 0.000 0.588 P 3.305 0.907 M 6.85 0.005 T -8.54 0.974 D 0.224 0.275 -0.903 0.477 T 0.000 0.000 T . . . 3.760 0.509 23.3 0.983 0.396 0.932 0.573 D c 0.384 0.101 0.000 0.029 0.554 0.246 0 1.8 0.240 7.226 0.774 -0.166 0.106 1.000 0.715 0.002 0.062 8.414 0.316 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000203663.2 Testis 0.8965 0.3478 0.9466 0.8781 0.8460 0.9794 0.9369 0.9076 0.9405 0.7856 0.3782 0.9391 0.9073 0.8745 0.9819 0.9474 0.9274 hom 5220.15 172 1 248112809 . A G 5220.15 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7602;MQ=44.54;MQ0=2;QD=30.35;VQSLOD=2.5962;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5220,427,0 1 248112836 248112836 A G exonic OR2L8 nonsynonymous SNV OR2L8:NM_001001963:exon1:c.A677G:p.H226R 0.76 0.3 0.93 0.88 0.95 0.95 0.8965 0.3914 0.9524 0.8696 0.9791 0.9467 0.9117 0.9534 0.77 0.41 0.95 0.55 0.87 rs4925792 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.004 0.093 B 0.761 0.065 N 1 0.090 P -1.06 0.011 N 9.09 0.000 T -0.72 0.204 N 0.019 0.004 -0.905 0.475 T 0.000 0.000 T . . . -3.548 0.000 0.001 0.571 0.056 0.003 0.017 N c -2.132 -2.144 0.000 0.012 0.554 0.246 0 -3.61 0.042 -2.257 0.013 -3.360 0.001 0.000 0.063 0.000 0.016 9.211 0.363 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000203663.2 Testis 0.9101 0.3852 0.9523 0.8834 0.8761 0.9803 0.9505 0.9183 0.9540 0.7935 0.4036 0.9415 0.9073 0.8778 0.9785 0.9479 0.9296 hom 5932.78 202 1 248112836 . A G 5932.78 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.931;DP=202;Dels=0.00;FS=3.563;HRun=0;HaplotypeScore=0.9469;MQ=49.07;MQ0=2;MQRankSum=1.192;QD=29.37;ReadPosRankSum=-0.096;VQSLOD=3.0442;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,201:202:99:5898,478,0 1 248128929 248128929 G A exonic OR2AK2 nonsynonymous SNV OR2AK2:NM_001004491:exon1:c.G296A:p.S99N 0.37 0.29 0.36 0.46 0.33 0.44 0.3578 0.2911 0.3677 0.4627 0.3382 0.3394 0.3424 0.4583 0.32 0.29 0.33 0.32 0.34 rs6664332 COSM4143649 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.74 0.017 N 5.3 0.011 T 2.4 0.003 N 0.008 0.001 -1.037 0.182 T 0.000 0.000 T . . . -1.834 0.010 0.002 0.734 0.100 0.001 0.005 N c -1.612 -1.536 0.000 0.046 0.487 0.133 0 1.92 0.248 -0.003 0.127 -0.101 0.116 0.000 0.063 0.001 0.043 2.748 0.049 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000196071.3|ENSG00000196071.3|ENSG00000226191.3|ENSG00000203663.2|ENSG00000198128.3|ENSG00000196071.3|ENSG00000196071.3|ENSG00000226191.3|ENSG00000196071.3|ENSG00000196071.3|ENSG00000203663.2|ENSG00000196071.3|ENSG00000198128.3|ENSG00000196071.3|ENSG00000196071.3|ENSG00000196071.3 Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Nerve_Tibial|Nerve_Tibial|Pituitary|Pituitary|Spleen|Thyroid 0.3575 0.2857 0.3646 0.2664 0.4584 0.3405 0.3406 0.3309 0.4523 0.3385 0.2811 0.3720 0.2649 0.4324 0.3446 0.3593 0.3487 het 2852.81 209 1 248128929 . G A 2852.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.316;DP=209;Dels=0.00;FS=1.719;HRun=1;HaplotypeScore=8.4748;MQ=58.62;MQ0=0;MQRankSum=0.500;QD=13.65;ReadPosRankSum=-0.724;VQSLOD=4.6676;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,101:209:99:2883,0,3149 1 248129240 248129240 G A exonic OR2AK2 nonsynonymous SNV OR2AK2:NM_001004491:exon1:c.G607A:p.V203M 0.43 0.091 0.57 0.46 0.65 0.53 0.5658 0.1728 0.5962 0.4562 0.6504 0.6355 0.6018 0.5306 0.49 0.19 0.64 0.39 0.56 rs4478844 COSM3997400 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.994 0.807 D . . . 1 0.090 P 1.855 0.493 L 8.64 0.002 T -1.05 0.275 N 0.04 0.030 -1.052 0.138 T 0.000 0.000 T . . . 3.997 0.537 23.6 0.997 0.783 0.018 0.055 N c -0.236 -0.497 0.002 0.087 0.487 0.133 0 0.632 0.168 -0.930 0.040 -0.183 0.104 0.000 0.063 0.002 0.062 3.338 0.066 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000196071.3|ENSG00000196071.3|ENSG00000203663.2|ENSG00000196071.3|ENSG00000196071.3|ENSG00000226191.3|ENSG00000196071.3|ENSG00000196071.3|ENSG00000196071.3|ENSG00000198128.3|ENSG00000196071.3|ENSG00000196071.3 Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Nerve_Tibial|Pituitary|Pituitary|Thyroid 0.5745 0.1694 0.5937 0.6250 0.4585 0.6500 0.6364 0.6143 0.5214 0.4921 0.1907 0.5919 0.6556 0.4770 0.6443 0.6177 0.6039 het 1370.96 83 1 248129240 . G A 1370.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.983;DP=83;Dels=0.00;FS=0.911;HRun=0;HaplotypeScore=3.3307;MQ=59.44;MQ0=0;MQRankSum=0.650;QD=16.52;ReadPosRankSum=-0.752;VQSLOD=6.1009;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,48:83:99:1401,0,873 1 248366792 248366792 T C exonic OR2M3 synonymous SNV OR2M3:NM_001004689:exon1:c.T423C:p.C141C 0.25 0.17 0.26 0.35 0.15 0.33 0.1966 0.1602 0.3034 0.3678 0.1385 0.1420 0.1586 0.3013 0.15 0.16 0.15 0.16 0.15 rs12562957 COSM3751100 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1991 0.1607 0.3016 0.0534 0.3714 0.1331 0.1470 0.1677 0.2988 0.1719 0.1490 0.2602 0.0533 0.4119 0.1446 0.1633 0.1738 hom 7789.85 250 1 248366792 . T C 7789.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.619;DP=250;DS;Dels=0.00;FS=4.411;HRun=0;HaplotypeScore=6.1276;MQ=58.25;MQ0=0;MQRankSum=-0.856;QD=31.16;ReadPosRankSum=0.257;VQSLOD=3.2246;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7752,626,0 1 248402758 248402758 C T exonic OR2M4 synonymous SNV OR2M4:NM_017504:exon1:c.C528T:p.H176H 0.7 0.43 0.75 0.8 0.73 0.91 0.7488 0.4940 0.7650 0.8014 0.7842 0.7415 0.7676 0.8851 0.66 0.5 0.75 0.55 0.74 rs6666148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7521 0.4879 0.7642 0.6234 0.8054 0.7859 0.7466 0.7390 0.8792 0.6931 0.5129 0.7650 0.6159 0.8139 0.7888 0.7538 0.7847 hom 7373.79 242 1 248402758 . C T 7373.79 Mask AC=2;AF=1.00;AN=2;DP=242;DS;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=2.4968;MQ=59.33;MQ0=0;QD=30.47;VQSLOD=9.1033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:7373,581,0 1 248457979 248457979 C A exonic OR2T12 nonsynonymous SNV OR2T12:NM_001004692:exon1:c.G902T:p.R301L 0.79 0.75 0.76 0.86 0.72 0.89 0.7749 0.7680 0.7751 0.8586 0.8010 0.7406 0.7863 0.8626 0.75 0.77 0.75 0.73 0.77 rs6667171 COSM4143657 1(pancreas);1(thyroid) . . . . . . . . . . . 0.001 0.784 D 0.01 0.144 B 0.014 0.158 B 0.510 0.051 U 1 0.090 P 2.525 0.740 M 1.04 0.402 T -3.98 0.737 D 0.119 0.132 -0.917 0.459 T 0.000 0.000 T . . . 2.985 0.419 22.2 0.978 0.354 0.002 0.011 N c -1.074 -1.236 0.000 0.012 0.487 0.133 0 -1.12 0.093 -0.463 0.067 -1.114 0.018 0.000 0.063 0.001 0.043 5.252 0.147 . . . 0.7740 0.7666 0.7714 0.7054 0.8632 0.7990 0.7405 0.7551 0.8593 0.7641 0.7657 0.7662 0.6788 0.8566 0.8001 0.7451 0.7838 hom 7956.07 230 1 248457979 . C A 7956.07 Mask AC=2;AF=1.00;AN=2;DP=230;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7552;MQ=58.24;MQ0=0;QD=34.59;VQSLOD=7.8520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7955,626,0 1 248457993 248457993 C G exonic OR2T12 nonsynonymous SNV OR2T12:NM_001004692:exon1:c.G888C:p.K296N 0.21 0.0091 0.25 0.36 0.17 0.35 0.2092 0.0353 0.3145 0.3690 0.2094 0.1670 0.2004 0.3324 0.13 0.044 0.17 0.098 0.18 rs11204625 . . . . . . . . . . . . . 0.054 0.386 T 0.952 0.522 P 0.703 0.524 P 0.103 0.198 U 1 0.090 P 1.27 0.322 L 1.02 0.407 T -2.49 0.542 N 0.086 0.081 -1.060 0.117 T 0.000 0.000 T . . . 0.139 0.107 4.026 0.990 0.508 0.020 0.059 N c -0.644 -0.972 0.000 0.012 0.487 0.133 0 -3.42 0.045 -0.310 0.081 0.283 0.269 0.000 0.063 0.004 0.083 4.014 0.091 . . . 0.2158 0.0311 0.3069 0.1410 0.3748 0.2092 0.1675 0.1924 0.3278 0.1611 0.0336 0.2613 0.1457 0.4042 0.2120 0.1884 0.2184 hom 7965.92 243 1 248457993 . C G 7965.92 Mask AC=2;AF=1.00;AN=2;DP=243;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6343;MQ=58.33;MQ0=0;QD=32.78;VQSLOD=9.2017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,243:243:99:7965,653,0 1 248458876 248458876 T - exonic OR2T12 frameshift deletion OR2T12:NM_001004692:exon1:c.5delA:p.E2Gfs*1 0.21 0.016 0.24 0.36 0.17 0.35 0.2035 0.0398 0.3141 0.3677 0.2094 0.1672 0.1925 0.3338 0.13 0.047 0.17 0.022 0.17 rs11339452 COSM327981 1(pancreas);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2000 0.0357 0.2802 0.1209 0.3704 0.2023 0.1606 0.1849 0.3073 0.1613 0.0365 0.2637 0.1467 0.4018 0.2115 0.1875 0.2166 hom 3638.34 89 1 248458875 . CT C 3638.34 Mask AC=2;AF=1.00;AN=2;DP=89;FS=0.000;HRun=1;HaplotypeScore=233.4709;MQ=41.03;MQ0=8;QD=34.32;set=variant2 GT:AD:DP:GQ:PL 1/1:2,104:89:99:3638,262,0 1 248487016 248487016 C T exonic OR2M7 synonymous SNV OR2M7:NM_001004691:exon1:c.G855A:p.L285L 0.21 0.0091 0.24 0.36 0.17 0.36 0.2088 0.0353 0.3140 0.3765 0.2083 0.1644 0.2002 0.3391 0.13 0.044 0.17 0.098 0.16 rs4451579 COSM5008419 4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2149 0.0311 0.3062 0.1400 0.3823 0.2072 0.1646 0.1914 0.3285 0.1604 0.0334 0.2613 0.1457 0.4113 0.2101 0.1866 0.2184 hom 3952.62 116 1 248487016 . C T 3952.62 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4233;MQ=59.04;MQ0=0;QD=34.07;VQSLOD=6.0230;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3952,322,0 1 248487638 248487638 A G exonic OR2M7 nonsynonymous SNV OR2M7:NM_001004691:exon1:c.T233C:p.V78A 0.8 0.77 0.77 0.86 0.71 0.9 0.7757 0.7747 0.7768 0.8609 0.8013 0.7403 0.7941 0.8632 0.76 0.78 0.75 0.66 0.76 rs7555310 . . . . . . . . . . . . . 0.003 0.682 D 0.969 0.548 D 0.701 0.523 P 0.164 0.176 U 1 0.090 P 2.195 0.620 M 3.53 0.049 T -3.83 0.721 D 0.084 0.078 -1.077 0.080 T 0.000 0.000 T . . . 3.315 0.457 22.9 0.994 0.634 0.049 0.105 N c -0.264 -0.481 0.000 0.029 0.487 0.133 0 -0.011 0.133 0.396 0.204 0.677 0.295 0.000 0.063 0.688 0.307 7.072 0.242 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7743 0.7758 0.7728 0.7069 0.8641 0.7992 0.7394 0.7547 0.8589 0.7683 0.7803 0.7625 0.6755 0.8575 0.8027 0.7453 0.7786 hom 8662.65 250 1 248487638 . A G 8662.65 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6918;MQ=58.44;MQ0=0;QD=34.65;VQSLOD=9.1714;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8662,683,0 1 248487768 248487768 A G exonic OR2M7 nonsynonymous SNV OR2M7:NM_001004691:exon1:c.T103C:p.F35L 0.8 0.77 0.77 0.86 0.71 0.9 0.7757 0.7746 0.7769 0.8610 0.8015 0.7402 0.7952 0.8629 0.76 0.78 0.75 0.65 0.76 rs7555424 . . . . . . . . . . . . . 0.012 0.546 D 0.85 0.449 P 0.291 0.390 B 0.085 0.207 U 1.000 0.182 P 2.29 0.655 M 3.67 0.042 T -3.15 0.641 D 0.074 0.064 -1.110 0.031 T 0.000 0.000 T . . . 3.700 0.502 23.3 0.989 0.478 0.885 0.481 D c -0.150 -0.317 0.005 0.109 0.487 0.133 0 1.55 0.222 5.609 0.671 0.677 0.295 0.521 0.269 0.033 0.150 8.684 0.332 . . . 0.7743 0.7758 0.7727 0.7069 0.8644 0.7991 0.7394 0.7545 0.8589 0.7686 0.7806 0.7620 0.6755 0.8584 0.8029 0.7458 0.7765 hom 8601.04 249 1 248487768 . A G 8601.04 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.11;MQ0=0;QD=34.54;VQSLOD=8.6936;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,248:249:99:8600,671,0 1 248512498 248512498 A G exonic OR14C36 nonsynonymous SNV OR14C36:NM_001001918:exon1:c.A422G:p.Q141R 0.25 0.092 0.26 0.43 0.19 0.35 0.2321 0.1082 0.3073 0.4304 0.2206 0.1886 0.2236 0.3356 0.16 0.11 0.19 0.14 0.19 rs28448343 . . . . . . . . . . . . . 0.122 0.276 T 0.988 0.604 D 0.93 0.647 D 0.300 0.146 N 1 0.090 P 1.59 0.404 L 8.74 0.001 T -1.84 0.431 N 0.056 0.039 -1.060 0.118 T 0.000 0.000 T . . . -0.336 0.066 0.550 0.979 0.363 0.014 0.046 N c -0.699 -0.912 0.000 0.012 0.500 0.196 0 -1.39 0.085 -1.722 0.020 -0.127 0.111 0.000 0.063 0.004 0.083 1.395 0.021 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2361 0.1002 0.3023 0.1705 0.4346 0.2204 0.1876 0.2143 0.3321 0.1949 0.1037 0.2625 0.1788 0.4637 0.2235 0.2063 0.2362 hom 5125.69 169 1 248512498 . A G 5125.69 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8410;MQ=59.15;MQ0=0;QD=30.33;VQSLOD=8.7637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5124,427,0 1 248525328 248525328 - TA exonic OR2T4 frameshift insertion OR2T4:NM_001004696:exon1:c.446_447insTA:p.M150Tfs*19 0.27 0.23 0.26 0.38 0.18 0.32 0.2099 0.2205 0.2891 0.3659 0.1945 0.1554 0.1905 0.2948 . . . . 0.11 rs61248663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2153 0.2167 0.2834 0.1331 0.4116 0.1939 0.1552 0.1886 0.3000 0.2134 0.2375 0.2662 0.1490 0.4391 0.2037 0.1760 0.2118 hom 11052.39 195 1 248525328 . C CTA 11052.39 Mask AC=2;AF=1.00;AN=2;DP=195;FS=0.000;HRun=0;HaplotypeScore=1662.7607;MQ=35.14;MQ0=1;QD=47.03;set=variant2 GT:AD:DP:GQ:PL 1/1:8,223:195:99:11052,575,0 1 248525780 248525780 C T exonic OR2T4 nonsynonymous SNV OR2T4:NM_001004696:exon1:c.C898T:p.P300S 0.29 0.24 0.27 0.43 0.18 0.36 0.2271 0.2372 0.3163 0.4266 0.2056 0.1612 0.2015 0.3304 0.19 0.24 0.16 0.13 0.2 rs28698997 COSM3751110 1(large_intestine) . . . . . . . . . . . 0.068 0.357 T 0.34 0.317 B 0.279 0.385 B 0.048 0.233 N 1 0.090 P 1.045 0.269 L 8.6 0.002 T -4.74 0.801 D 0.087 0.083 -1.106 0.034 T 0.000 0.000 T . . . 3.256 0.450 22.8 0.977 0.349 0.018 0.055 N c -0.467 -0.497 0.000 0.012 0.487 0.133 0 0.732 0.174 -1.573 0.022 0.617 0.288 0.000 0.063 0.956 0.434 4.711 0.122 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000177174.1 Nerve_Tibial 0.2297 0.2312 0.3099 0.1435 0.4341 0.2033 0.1612 0.1999 0.3274 0.2177 0.2408 0.2686 0.1523 0.4497 0.2042 0.1809 0.2200 hom 6539.92 213 1 248525780 . C T 6539.92 Mask AC=2;AF=1.00;AN=2;DP=213;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8730;MQ=53.06;MQ0=0;QD=30.70;VQSLOD=3.4471;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,213:213:99:6539,527,0 1 248550970 248550970 A G exonic OR2T6 nonsynonymous SNV OR2T6:NM_001005471:exon1:c.A61G:p.N21D 0.38 0.52 0.32 0.44 0.18 0.37 0.2454 0.4631 0.3406 0.4300 0.2040 0.1522 0.2086 0.3413 0.25 0.45 0.15 0.27 0.21 rs7417616 COSM3751111 1(large_intestine) . . . . . . . . . . . 0.04 0.421 D 0.0 0.026 B 0.0 0.013 B 0.265 0.037 N 1 0.090 P 0.955 0.240 L 4.09 0.030 T -0.89 0.240 N 0.018 0.003 -0.953 0.405 T 0.000 0.000 T . . . 0.033 0.097 2.911 0.925 0.213 0.011 0.039 N c -1.743 -1.829 0.000 0.067 0.487 0.133 0 -6.15 0.019 -3.460 0.005 -0.967 0.023 0.000 0.063 0.004 0.083 4.025 0.091 . . . 0.2434 0.4638 0.3309 0.1265 0.4411 0.2010 0.1517 0.2075 0.3336 0.2763 0.4641 0.2859 0.1167 0.4544 0.2026 0.1716 0.2261 hom 3347.49 115 1 248550970 . A G 3347.49 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.648;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9074;MQ=58.24;MQ0=0;MQRankSum=-0.979;QD=29.11;ReadPosRankSum=0.437;VQSLOD=8.0446;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,114:115:99:3310,240,0 1 248550976 248550976 T G exonic OR2T6 nonsynonymous SNV OR2T6:NM_001005471:exon1:c.T67G:p.C23G 0.77 0.87 0.74 0.75 0.66 0.81 0.7212 0.8561 0.7185 0.7115 0.6861 0.6945 0.7152 0.7658 0.75 0.85 0.7 0.73 0.69 rs6587467 . . . . . . . . . . . . . 0.328 0.132 T 0.0 0.026 B 0.0 0.013 B 0.041 0.019 N 1 0.090 P -0.345 0.033 N 4.09 0.030 T -0.13 0.090 N 0.054 0.036 -1.034 0.193 T 0.000 0.000 T . . . -1.077 0.029 0.011 0.466 0.037 0.003 0.015 N c -1.511 -1.486 0.000 0.012 0.487 0.133 0 -2.04 0.069 -1.484 0.024 -0.409 0.061 0.000 0.063 0.000 0.016 4.591 0.116 . . . 0.7154 0.8557 0.7123 0.6587 0.7177 0.6852 0.6962 0.7094 0.7585 0.7431 0.8570 0.7115 0.6267 0.7247 0.6832 0.7002 0.6949 hom 3491.17 109 1 248550976 . T G 3491.17 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.898;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9074;MQ=58.38;MQ0=0;MQRankSum=0.481;QD=32.03;ReadPosRankSum=0.064;VQSLOD=9.2863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,107:109:99:3424,231,0 1 248551203 248551203 T C exonic OR2T6 synonymous SNV OR2T6:NM_001005471:exon1:c.T294C:p.T98T 0.37 0.5 0.31 0.44 0.18 0.37 0.2432 0.4416 0.3401 0.4305 0.2037 0.1527 0.2096 0.3512 0.25 0.43 0.15 0.2 0.22 rs6700947 COSM3751112 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2419 0.4407 0.3287 0.1267 0.4410 0.2001 0.1512 0.2061 0.3307 0.2701 0.4432 0.2864 0.1159 0.4581 0.2022 0.1710 0.2249 hom 5115.16 164 1 248551203 . T C 5115.16 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8174;MQ=59.23;MQ0=0;QD=31.19;VQSLOD=8.5720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:5114,415,0 1 248551560 248551560 C T exonic OR2T6 synonymous SNV OR2T6:NM_001005471:exon1:c.C651T:p.S217S 0.29 0.22 0.29 0.44 0.17 0.37 0.2224 0.2229 0.3285 0.4309 0.2037 0.1513 0.1938 0.3355 0.17 0.22 0.15 0.15 0.2 rs954474 COSM3751113 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2255 0.2173 0.3184 0.1265 0.4410 0.2012 0.1508 0.1960 0.3326 0.2117 0.2344 0.2778 0.1167 0.4615 0.2025 0.1722 0.2152 hom 6116.55 188 1 248551560 . C T 6116.55 Mask AC=2;AF=1.00;AN=2;DP=188;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.98;MQ0=0;QD=32.53;VQSLOD=9.9721;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,188:188:99:6116,472,0 1 248551636 248551636 T G exonic OR2T6 nonsynonymous SNV OR2T6:NM_001005471:exon1:c.T727G:p.S243A 0.37 0.5 0.31 0.44 0.18 0.37 0.2429 0.4413 0.3397 0.4311 0.2037 0.1520 0.2080 0.3376 0.25 0.44 0.15 0.25 0.22 rs954475 COSM3751114 1(large_intestine) . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 1.0 0.971 D 0.002 0.370 N 1.000 0.198 P 2.355 0.679 M 1.11 0.389 T -2.89 0.606 D 0.105 0.111 -0.926 0.447 T 0.000 0.000 T . . . 3.158 0.439 22.6 0.992 0.563 0.151 0.185 N c 0.005 -0.223 0.000 0.012 0.487 0.133 0 2.85 0.322 0.248 0.178 -0.012 0.132 0.011 0.184 0.003 0.074 6.292 0.201 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2417 0.4412 0.3293 0.1263 0.4411 0.2011 0.1515 0.2066 0.3329 0.2702 0.4434 0.2864 0.1159 0.4539 0.2021 0.1711 0.2267 hom 6209.13 183 1 248551636 . T G 6209.13 Mask AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.16;MQ0=0;QD=33.93;VQSLOD=9.2542;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:183:99:6209,476,0 1 248685253 248685253 T C exonic OR2G6 synonymous SNV OR2G6:NM_001013355:exon1:c.T306C:p.Y102Y 0.95 0.82 0.99 1. 1. 1. 0.9857 0.8447 0.9917 1 1 0.9997 0.9934 0.9999 0.95 0.85 1. 0.9 1. rs9727474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9890 0.8453 0.9923 1 1 1 0.9996 0.9934 0.9998 0.9566 0.8479 0.9916 1 1 1 0.9997 0.9929 hom 4804.39 156 1 248685253 . T C 4804.39 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.85;MQ0=0;QD=30.80;VQSLOD=8.4873;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:4803,397,0 1 248789504 248789504 T C exonic OR2T11 nonsynonymous SNV OR2T11:NM_001001964:exon1:c.A926G:p.Q309R 0.96 0.86 0.98 1. 0.99 0.99 0.9805 0.8568 0.9915 0.9994 0.9995 0.9909 0.9921 0.9856 0.95 0.86 0.99 0.89 0.9 rs1892442 . . . . . . . . . . . . . 0.404 0.103 T 0.0 0.026 B 0.002 0.063 B 0.169 0.174 N 1.000 0.090 P 0.505 0.135 N 1.3 0.356 T -0.66 0.191 N 0.063 0.051 -1.035 0.188 T 0.000 0.000 T . . . -0.472 0.057 0.258 0.670 0.080 0.051 0.108 N c -1.289 -1.303 0.000 0.029 0.487 0.133 0 1.7 0.232 0.467 0.216 -0.370 0.067 0.059 0.215 0.003 0.074 7.729 0.278 . . . 0.9829 0.8546 0.9906 0.9758 0.9996 0.9993 0.9912 0.9857 0.9849 0.9592 0.8625 0.9903 0.9765 1 0.9982 0.9920 0.9884 hom 5233.20 165 1 248789504 . T C 5233.20 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7480;MQ=59.72;MQ0=0;QD=31.72;VQSLOD=8.5325;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,165:165:99:5233,406,0 1 248790075 248790075 A G exonic OR2T11 nonsynonymous SNV OR2T11:NM_001001964:exon1:c.T355C:p.C119R 0.91 0.7 0.97 1. 0.99 0.99 0.9688 0.7161 0.9868 1 0.9995 0.9908 0.9887 0.9854 0.9 0.72 0.99 0.84 0.9 rs1892443 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.443 N 0.531 0.315 P -2.18 0.001 N 3.55 0.048 T 7.12 0.000 N 0.016 0.003 -1.022 0.231 T 0.000 0.000 T . . . -1.381 0.020 0.003 0.179 0.005 0.025 0.069 N c -1.314 -1.058 0.000 0.050 0.487 0.133 0 2.4 0.284 0.495 0.220 -0.025 0.128 0.998 0.411 0.037 0.154 4.735 0.123 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9735 0.7061 0.9850 0.9761 1 0.9993 0.9909 0.9802 0.9862 0.9217 0.7154 0.9818 0.9765 1 0.9979 0.9924 0.9881 hom 3947.69 126 1 248790075 . A G 3947.69 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2451;MQ=59.34;MQ0=0;QD=31.33;VQSLOD=8.5960;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3947,328,0 1 248814080 248814080 A C exonic OR2T27 nonsynonymous SNV OR2T27:NM_001001824:exon1:c.T106G:p.L36V 0.94 0.81 0.98 1. 1. 1. 0.9839 0.8401 0.9919 1 1 0.9972 0.9879 0.9996 . . . 0.41 0.98 rs1782242 COSM4591629 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.289 0.150 T 0.0 0.026 B 0.004 0.093 B 0.214 0.163 N 1 0.090 P . . . 2.32 0.166 T -1.09 0.283 N 0.137 0.159 -1.066 0.104 T 0.000 0.000 T . . . -2.060 0.007 0.001 0.603 0.063 0.001 0.008 N c -1.437 -1.542 0.000 0.029 0.487 0.133 0 -2.51 0.060 -3.448 0.005 -0.133 0.110 0.000 0.063 0.418 0.257 1.217 0.018 . . . 0.9869 0.8397 0.9920 0.9702 1 1 0.9988 0.9870 0.9995 0.9551 0.8466 0.9890 0.9733 1 1 0.9992 0.9947 hom 4377.48 131 1 248814080 . A C 4377.48 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4972;MQ=44.78;MQ0=2;QD=33.42;VQSLOD=4.0295;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:4377,346,0 1 248814126 248814126 G A exonic OR2T27 synonymous SNV OR2T27:NM_001001824:exon1:c.C60T:p.N20N . . . . . . 0.5751 0.5533 0.6445 0.8414 0.5676 0.5227 0.5784 0.6140 . . . 0.16 0.57 rs28418327 COSM4594866 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5809 0.5551 0.6365 0.5265 0.8458 0.5667 0.5256 0.5496 0.6132 0.5913 0.5737 0.6401 0.5468 0.9040 0.5796 0.5681 0.5817 hom 4277.22 145 1 248814126 . G A 4277.22 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9325;MQ=46.25;MQ0=5;QD=29.50;VQSLOD=2.9170;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4276,349,0 1 248845097 248845097 C T exonic OR14I1 nonsynonymous SNV OR14I1:NM_001004734:exon1:c.G509A:p.S170N 0.75 0.43 0.87 0.87 0.88 0.86 0.8262 0.4875 0.8212 0.8296 0.8255 0.8726 0.8392 0.8530 0.75 0.5 0.88 0.69 0.83 rs2000390 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.114 0.193 N 1 0.090 P -2.295 0.001 N 9.04 0.000 T 3.51 0.001 N 0.006 0.000 -0.905 0.474 T 0.000 0.000 T . . . -1.800 0.011 0.002 0.131 0.002 0.000 0.003 N c -2.000 -1.927 0.000 0.029 0.487 0.133 0 -3.92 0.039 -0.654 0.054 -1.773 0.007 0.000 0.063 0.000 0.016 7.168 0.247 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000229255.1|ENSG00000189181.3 Cells_EBV-transformed_lymphocytes|Testis 0.8317 0.4758 0.8262 0.8551 0.8287 0.8192 0.8755 0.8629 0.8529 0.7551 0.4859 0.8461 0.8709 0.8259 0.8220 0.8747 0.8469 hom 2755.56 81 1 248845097 . C T 2755.56 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=34.02;VQSLOD=9.6045;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2789,226,0 1 248845411 248845411 G A exonic OR14I1 synonymous SNV OR14I1:NM_001004734:exon1:c.C195T:p.S65S 0.77 0.5 0.88 0.87 0.88 0.85 0.8321 0.5558 0.8242 0.8307 0.8255 0.8730 0.8422 0.8493 0.77 0.56 0.88 0.72 0.84 rs11485825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8366 0.5463 0.8297 0.8579 0.8288 0.8196 0.8760 0.8661 0.8495 0.7756 0.5560 0.8520 0.8709 0.8249 0.8220 0.8754 0.8523 hom 4146.78 123 1 248845411 . G A 4146.78 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.47;MQ0=0;QD=33.71;VQSLOD=9.6099;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4146,325,0 1 248845458 248845458 C T exonic OR14I1 nonsynonymous SNV OR14I1:NM_001004734:exon1:c.G148A:p.D50N 0.75 0.4 0.87 0.87 0.89 0.86 0.8264 0.4504 0.8196 0.8304 0.8258 0.8770 0.8403 0.8612 0.74 0.46 0.88 0.65 0.84 rs4509608 . . . . . . . . . . . . . 0.071 0.351 T 0.975 0.561 D 0.624 0.497 P 0.042 0.239 N 1 0.090 P 2.16 0.606 M 5.55 0.009 T -4.2 0.757 D 0.028 0.009 -1.059 0.119 T 0.000 0.000 T . . . 3.907 0.526 23.5 0.996 0.727 0.004 0.019 N c -0.338 -0.607 0.000 0.012 0.554 0.283 0 1.19 0.200 -1.043 0.036 0.583 0.286 0.000 0.063 0.002 0.062 5.433 0.157 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000229255.1|ENSG00000189181.3 Cells_EBV-transformed_lymphocytes|Testis 0.8327 0.4362 0.8252 0.8770 0.8289 0.8201 0.8793 0.8653 0.8602 0.7458 0.4476 0.8433 0.8907 0.8269 0.8225 0.8770 0.8523 hom 4825.74 151 1 248845458 . C T 4825.74 Mask AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.69;MQ0=0;QD=31.96;VQSLOD=8.3844;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:151:99:4825,373,0 1 248845471 248845471 T C exonic OR14I1 synonymous SNV OR14I1:NM_001004734:exon1:c.A135G:p.A45A 0.87 0.55 0.95 1. 1. 1. 0.9610 0.6009 0.9793 1 0.9992 0.9955 0.9714 0.9992 0.86 0.61 0.99 0.81 0.98 rs4575113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9683 0.5900 0.9787 0.9729 1 0.9988 0.9967 0.9759 0.9987 0.8856 0.6041 0.9749 0.9768 1 0.9994 0.9965 0.9857 hom 4302.36 140 1 248845471 . T C 4302.36 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5777;MQ=59.84;MQ0=0;QD=30.73;VQSLOD=8.2854;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:140:99:4301,358,0 1 248845499 248845499 A G exonic OR14I1 nonsynonymous SNV OR14I1:NM_001004734:exon1:c.T107C:p.V36A 0.91 0.67 0.97 1. 1. 1. 0.9721 0.7141 0.9850 0.9999 1 0.9969 0.9813 0.9993 0.9 0.72 1. 0.8 0.98 rs4462184 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.010 0.302 N 1 0.090 P -1.615 0.004 N 6.44 0.006 T 3.34 0.001 N 0.024 0.008 -1.056 0.127 T 0.000 0.000 T . . . -1.892 0.009 0.002 0.129 0.002 0.000 0.003 N c -1.659 -1.555 0.000 0.012 0.554 0.283 0 1.38 0.212 0.396 0.204 -0.136 0.110 0.000 0.063 0.002 0.062 5.015 0.136 . ENSG00000229703.2 Testis 0.9773 0.7078 0.9844 0.9731 1 1 0.9981 0.9821 0.9990 0.9190 0.7179 0.9833 0.9768 1 1 0.9987 0.9898 hom 3940.44 129 1 248845499 . A G 3940.44 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;QD=30.55;VQSLOD=8.6345;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3940,316,0 2 1079320 1079320 C T exonic SNTG2 synonymous SNV SNTG2:NM_018968:exon2:c.C189T:p.G63G 0.67 0.56 0.78 0.68 0.8 0.58 0.7349 0.5875 0.8043 0.6906 0.8049 0.7751 0.7444 0.6058 0.73 0.61 0.78 0.59 . rs4971432 COSM4132951 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7423 0.5867 0.8084 0.7483 0.6871 0.8032 0.7762 0.7532 0.6076 0.7256 0.6059 0.8031 0.7649 0.6654 0.8190 0.7733 0.7485 hom 5359.39 172 2 1079320 . C T 5359.39 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6498;MQ=59.11;MQ0=0;QD=31.16;VQSLOD=9.5591;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5359,430,0 2 1271230 1271230 A G exonic SNTG2 nonsynonymous SNV SNTG2:NM_018968:exon14:c.A1171G:p.I391V 0.36 0.5 0.23 0.32 0.25 0.41 0.2848 0.4809 0.1746 0.3394 0.1751 0.2508 0.2671 0.3949 0.3 0.44 0.24 0.38 . rs13023962 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.001 0.409 N 0.999 0.220 P -1.065 0.010 N 1.34 0.686 T 0.21 0.048 N 0.024 0.007 -0.967 0.379 T 0.000 0.000 T . . . -1.631 0.014 0.002 0.174 0.005 0.049 0.105 N c -1.420 -1.261 0.000 0.054 0.615 0.372 0 1.67 0.230 1.942 0.396 -0.326 0.075 1.000 0.715 0.090 0.185 5.308 0.150 PH domain-like;PH domain-like|Pleckstrin homology domain ENSG00000172554.7 Testis 0.2629 0.4707 0.1694 0.2973 0.3339 0.1596 0.2392 0.2539 0.3743 0.2991 0.4693 0.1850 0.3245 0.3244 0.1637 0.2393 0.2332 het 408.34 32 2 1271230 . A G 408.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.625;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;MQRankSum=0.340;QD=12.76;ReadPosRankSum=-0.415;VQSLOD=5.9899;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,17:32:99:438,0,409 2 1418192 1418192 C G exonic TPO synonymous SNV TPO:NM_175721:exon1:c.C12G:p.L4L,TPO:NM_175722:exon1:c.C12G:p.L4L,TPO:NM_000547:exon2:c.C12G:p.L4L,TPO:NM_001206744:exon2:c.C12G:p.L4L,TPO:NM_001206745:exon2:c.C12G:p.L4L,TPO:NM_175719:exon2:c.C12G:p.L4L 0.31 0.28 0.37 0.24 0.39 0.32 0.3691 0.3004 0.4110 0.2012 0.4222 0.3928 0.3690 0.3548 0.36 0.29 0.39 0.26 0.43 rs9678281 COSM5034324;COSM1399678;COSM5034323 1(skin) Benign|Likely benign\x2cUncertain significance not_specified|Congenital_hypothyroidism\x2cCongenital_hypothyroidism RCV000247664.1|RCV000327723.1\x2cRCV000377691.1 MedGen|MedGen:Orphanet:SNOMED_CT\x2cMedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003\x2cC0010308:ORPHA442:190268003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3662 0.2907 0.4121 0.3381 0.2058 0.4147 0.3869 0.3731 0.3416 0.3615 0.2910 0.4017 0.3212 0.1860 0.4321 0.4026 0.3763 het 677.82 54 2 1418192 . C G 677.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.093;DP=54;Dels=0.00;FS=4.058;HRun=1;HaplotypeScore=0.9933;MQ=58.76;MQ0=0;MQRankSum=-0.572;QD=12.55;ReadPosRankSum=0.260;VQSLOD=5.6046;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,29:54:99:708,0,626 2 1460004 1460004 G T exonic TPO nonsynonymous SNV TPO:NM_175721:exon6:c.G769T:p.A257S,TPO:NM_175722:exon6:c.G769T:p.A257S,TPO:NM_000547:exon7:c.G769T:p.A257S,TPO:NM_001206744:exon7:c.G769T:p.A257S,TPO:NM_001206745:exon7:c.G769T:p.A257S,TPO:NM_175719:exon7:c.G769T:p.A257S 0.37 0.39 0.37 0.18 0.37 0.52 0.3791 0.3740 0.3844 0.1798 0.4307 0.3717 0.4172 0.4907 0.38 0.38 0.38 0.36 0.43 rs4927611 . . Benign|Likely benign not_specified|Congenital_hypothyroidism RCV000248792.1|RCV000285484.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . 0.052 0.408 T 0.716 0.403 P 0.407 0.429 B 0.667 0.060 N 1 0.090 P 1.705 0.444 L -0.72 0.730 T -1.56 0.377 N 0.048 0.036 -1.037 0.183 T 0.000 0.000 T . . . 0.402 0.133 6.632 0.965 0.296 0.103 0.157 N c -0.720 -0.813 0.000 0.029 0.554 0.283 0 0.493 0.160 0.754 0.259 1.048 0.713 0.001 0.137 0.004 0.083 9.784 0.396 . ENSG00000115705.16 Nerve_Tibial 0.3824 0.3721 0.3837 0.3969 0.1825 0.4281 0.3746 0.3727 0.4908 0.3692 0.3601 0.3842 0.3742 0.1741 0.4227 0.3787 0.4216 hom 2896.58 99 2 1460004 . G T 2896.58 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.15;MQ0=0;QD=29.26;VQSLOD=8.5243;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,98:99:99:2930,238,0 2 1497803 1497803 C T exonic TPO synonymous SNV TPO:NM_175722:exon9:c.C1479T:p.D493D,TPO:NM_001206745:exon10:c.C1827T:p.D609D,TPO:NM_175719:exon10:c.C1827T:p.D609D,TPO:NM_175721:exon10:c.C1998T:p.D666D,TPO:NM_000547:exon11:c.C1998T:p.D666D,TPO:NM_001206744:exon11:c.C1998T:p.D666D 0.36 0.31 0.37 0.41 0.37 0.35 0.3630 0.3209 0.3852 0.4090 0.3839 0.3555 0.3709 0.3715 0.35 0.32 0.37 0.4 0.43 rs1126797 COSM3757660;COSM3757661 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign not_specified|Congenital_hypothyroidism RCV000252817.1|RCV000358553.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3683 0.3229 0.3874 0.3498 0.4140 0.3723 0.3604 0.3582 0.3781 0.3578 0.3267 0.4099 0.35 0.4084 0.3817 0.3611 0.3717 het 1235.63 130 2 1497803 . C T 1235.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.835;DP=130;Dels=0.00;FS=1.448;HRun=0;HaplotypeScore=4.6596;MQ=59.50;MQ0=0;MQRankSum=-1.043;QD=9.50;ReadPosRankSum=0.494;VQSLOD=5.1097;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,51:130:99:1266,0,2029 2 1499899 1499899 C T exonic TPO synonymous SNV TPO:NM_175722:exon10:c.C1626T:p.P542P,TPO:NM_001206745:exon11:c.C1974T:p.P658P,TPO:NM_175719:exon11:c.C1974T:p.P658P,TPO:NM_175721:exon11:c.C2145T:p.P715P,TPO:NM_000547:exon12:c.C2145T:p.P715P,TPO:NM_001206744:exon12:c.C2145T:p.P715P 0.44 0.43 0.43 0.41 0.4 0.52 0.4109 0.4323 0.4345 0.4035 0.4194 0.3810 0.4292 0.5012 0.41 0.44 0.4 0.46 0.44 rs732608 COSM3757666;COSM1685440 2(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(skin);1(prostate);1(thyroid);1(large_intestine) Benign|Likely benign not_specified|Congenital_hypothyroidism RCV000246542.1|RCV000269620.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4162 0.4374 0.4383 0.3642 0.4122 0.4141 0.3884 0.3959 0.5060 0.4108 0.4406 0.4570 0.3567 0.4094 0.4129 0.3905 0.4265 het 1204.63 109 2 1499899 . C T 1204.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.123;DP=109;Dels=0.00;FS=2.573;HRun=0;HaplotypeScore=1.6553;MQ=59.31;MQ0=0;MQRankSum=0.077;QD=11.05;ReadPosRankSum=0.409;VQSLOD=6.4750;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,45:109:99:1235,0,1566 2 1499927 1499927 A C exonic TPO nonsynonymous SNV TPO:NM_175722:exon10:c.A1654C:p.T552P,TPO:NM_001206745:exon11:c.A2002C:p.T668P,TPO:NM_175719:exon11:c.A2002C:p.T668P,TPO:NM_175721:exon11:c.A2173C:p.T725P,TPO:NM_000547:exon12:c.A2173C:p.T725P,TPO:NM_001206744:exon12:c.A2173C:p.T725P 0.5 0.65 0.44 0.41 0.4 0.53 0.4280 0.6047 0.4451 0.4065 0.4208 0.3824 0.4403 0.5024 0.47 0.61 0.4 0.52 0.45 rs732609 COSM3812428;COSM3812429 2(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(prostate);1(thyroid) Benign|Likely benign not_specified|Congenital_hypothyroidism RCV000251285.1|RCV000334090.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.985 0.248 P -2.245 0.001 N -0.5 0.705 T 5.98 0.000 N 0.079 0.466 -0.913 0.465 T 0.000 0.000 T . . . -0.669 0.046 0.085 0.123 0.002 0.028 0.074 N c -1.249 -1.015 1.000 0.747 0.581 0.326 0 4.39 0.520 2.923 0.483 0.014 0.141 0.901 0.312 0.004 0.083 11.196 0.478 . ENSG00000115705.16|ENSG00000115705.16 Muscle_Skeletal|Nerve_Tibial 0.4291 0.6070 0.4476 0.3645 0.4141 0.4146 0.3897 0.4018 0.5074 0.4556 0.5973 0.4690 0.3609 0.4089 0.4129 0.3908 0.4337 het 1102.09 101 2 1499927 . A C 1102.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.566;DP=101;Dels=0.00;FS=0.785;HRun=1;HaplotypeScore=4.8497;MQ=59.63;MQ0=0;MQRankSum=0.874;QD=10.91;ReadPosRankSum=-2.407;VQSLOD=4.5593;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,41:101:99:1132,0,1509 2 1520676 1520676 T C exonic TPO nonsynonymous SNV TPO:NM_175721:exon13:c.T2408C:p.V803A,TPO:NM_175722:exon13:c.T2021C:p.V674A,TPO:NM_001206745:exon14:c.T2369C:p.V790A,TPO:NM_175719:exon14:c.T2369C:p.V790A,TPO:NM_000547:exon15:c.T2540C:p.V847A,TPO:NM_001206744:exon15:c.T2540C:p.V847A 0.66 0.83 0.6 0.58 0.54 0.69 0.5898 0.7841 0.6230 0.5873 0.6148 0.5357 0.5785 0.6538 0.61 0.77 0.53 0.62 0.51 rs1126799 COSM3927753;COSM148793 1(stomach);6(prostate) Benign|Benign not_specified|Congenital_hypothyroidism RCV000253477.1|RCV000333699.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.991 0.079 N 1 0.090 P -1.585 0.004 N -0.12 0.646 T 1.73 0.007 N 0.03 0.530 -1.008 0.275 T 0.000 0.000 T . . . -0.976 0.033 0.018 0.187 0.006 0.001 0.007 N c -0.792 -0.740 1.000 0.423 0.554 0.246 0 4.6 0.564 0.630 0.241 0.015 0.141 0.209 0.242 0.002 0.062 8.858 0.342 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain;Sushi/SCR/CCP domain . . 0.5876 0.7849 0.6227 0.4811 0.5895 0.6092 0.5372 0.5495 0.6583 0.6240 0.7735 0.6172 0.4570 0.6014 0.6122 0.5470 0.6068 het 985.74 114 2 1520676 . T C 985.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.244;DP=114;Dels=0.00;FS=2.565;HRun=0;HaplotypeScore=0.8941;MQ=58.92;MQ0=0;MQRankSum=0.717;QD=8.65;ReadPosRankSum=-0.415;VQSLOD=6.2735;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,44:114:99:1016,0,1714 2 1647171 1647171 T C exonic PXDN synonymous SNV PXDN:NM_012293:exon19:c.A3921G:p.V1307V 0.91 0.77 0.96 1. 0.89 0.98 0.9088 0.7885 0.9584 0.9999 0.8878 0.8925 0.9165 0.9717 0.86 0.8 0.89 0.89 . rs6730800 . . Benign not_specified RCV000251142.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9120 0.7884 0.9532 0.8943 0.9999 0.8865 0.8933 0.9092 0.9718 0.8711 0.7995 0.9439 0.9040 0.9994 0.8869 0.8908 0.8666 hom 3536.01 112 2 1647171 . T C 3536.01 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7153;MQ=57.97;MQ0=0;QD=31.57;VQSLOD=8.1977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3536,274,0 2 1652822 1652822 T G exonic PXDN synonymous SNV PXDN:NM_012293:exon17:c.A2730C:p.I910I 0.94 0.87 0.96 1. 0.89 0.98 0.9176 0.8786 0.9621 0.9996 0.8879 0.8930 0.9241 0.9711 0.9 0.9 0.9 0.94 . rs1863135 . . Benign not_specified RCV000253320.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9188 0.8774 0.9575 0.8939 0.9993 0.8877 0.8938 0.9138 0.9706 0.8936 0.8769 0.9498 0.9040 0.9988 0.8880 0.8914 0.8704 hom 1435.63 51 2 1652822 . T G 1435.63 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7783;MQ=58.68;MQ0=0;QD=28.15;VQSLOD=8.0444;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:51:99:1469,126,0 2 1664654 1664654 A G exonic PXDN synonymous SNV PXDN:NM_012293:exon14:c.T1836C:p.N612N 0.81 0.73 0.82 0.98 0.69 0.87 0.7560 0.7298 0.8543 0.9799 0.6791 0.6960 0.7573 0.8592 0.71 0.74 0.7 0.78 . rs17841813 . . Benign not_specified RCV000251977.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7556 0.7242 0.8382 0.6918 0.9821 0.6816 0.6942 0.7257 0.8551 0.7230 0.7259 0.8050 0.6921 0.9814 0.6784 0.7009 0.7086 het 1549.25 106 2 1664654 . A G 1549.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.165;DP=106;Dels=0.00;FS=0.750;HRun=0;HaplotypeScore=2.2771;MQ=60.00;MQ0=0;MQRankSum=-0.322;QD=14.62;ReadPosRankSum=-0.354;VQSLOD=6.3603;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,60:106:99:1579,0,1143 2 1842968 1842968 T C exonic MYT1L synonymous SNV MYT1L:NM_001303052:exon21:c.A3033G:p.G1011G,MYT1L:NM_001329845:exon21:c.A3033G:p.G1011G,MYT1L:NM_001329846:exon21:c.A3027G:p.G1009G,MYT1L:NM_001329847:exon21:c.A3027G:p.G1009G,MYT1L:NM_001329848:exon21:c.A3027G:p.G1009G,MYT1L:NM_001329849:exon21:c.A3027G:p.G1009G,MYT1L:NM_001329851:exon21:c.A3033G:p.G1011G,MYT1L:NM_001329852:exon21:c.A3027G:p.G1009G,MYT1L:NM_015025:exon21:c.A3027G:p.G1009G,MYT1L:NM_001329844:exon22:c.A3033G:p.G1011G 0.46 0.56 0.31 0.66 0.31 0.36 0.3670 0.5177 0.3086 0.6561 0.3342 0.3248 0.3685 0.3486 0.43 0.62 0.34 0.52 . rs6728368 COSM4133321;COSM4133320 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3592 0.5189 0.3022 0.3350 0.6574 0.3360 0.3204 0.3328 0.3445 0.3963 0.5139 0.2943 0.32 0.6660 0.3245 0.3247 0.3646 het 773.77 60 2 1842968 . T C 773.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.015;DP=60;Dels=0.00;FS=4.861;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.200;QD=12.90;ReadPosRankSum=1.045;VQSLOD=5.7183;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,28:60:99:804,0,817 2 1926437 1926437 G T exonic MYT1L synonymous SNV MYT1L:NM_001303052:exon10:c.C1104A:p.P368P,MYT1L:NM_001329845:exon10:c.C1104A:p.P368P,MYT1L:NM_001329846:exon10:c.C1104A:p.P368P,MYT1L:NM_001329847:exon10:c.C1104A:p.P368P,MYT1L:NM_001329848:exon10:c.C1104A:p.P368P,MYT1L:NM_001329849:exon10:c.C1104A:p.P368P,MYT1L:NM_001329851:exon10:c.C1104A:p.P368P,MYT1L:NM_001329852:exon10:c.C1104A:p.P368P,MYT1L:NM_015025:exon10:c.C1104A:p.P368P,MYT1L:NM_001329844:exon11:c.C1104A:p.P368P 0.99 1. 0.98 1. 0.98 0.99 0.9802 0.9961 0.9773 1 0.9915 0.9707 0.9788 0.9965 0.98 0.99 0.97 0.98 . rs1529667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9794 0.9961 0.9791 0.9578 1 0.9898 0.9692 0.9737 0.9971 0.9803 0.9940 0.9749 0.9470 1 0.9885 0.9689 0.9857 hom 1925.33 55 2 1926437 . G T 1925.33 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=60.00;MQ0=0;QD=35.01;VQSLOD=8.7464;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1958,153,0 2 3392075 3392075 T C exonic TRAPPC12 synonymous SNV TRAPPC12:NM_001321102:exon2:c.T681C:p.F227F,TRAPPC12:NM_016030:exon2:c.T681C:p.F227F 0.65 0.73 0.5 0.68 0.62 0.67 0.6030 0.7053 0.4531 0.7159 0.6207 0.5847 0.6227 0.6518 0.62 0.7 0.58 0.38 0.64 rs10865541 COSM442850 3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5959 0.6999 0.4609 0.6252 0.7147 0.6158 0.5814 0.6129 0.6537 0.6155 0.7077 0.4768 0.6424 0.7179 0.6036 0.5619 0.6008 hom 2372.04 78 2 3392075 . T C 2372.04 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7066;MQ=57.96;MQ0=0;QD=30.41;VQSLOD=5.0568;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,77:78:99:2405,193,0 2 3392295 3392295 A G exonic TRAPPC12 nonsynonymous SNV TRAPPC12:NM_001321102:exon2:c.A901G:p.S301G,TRAPPC12:NM_016030:exon2:c.A901G:p.S301G 0.47 0.42 0.31 0.61 0.4 0.57 0.4144 0.4368 0.2706 0.6491 0.4010 0.3757 0.4442 0.5339 0.39 0.41 0.37 0.37 0.42 rs11686212 . . . . . . . . . . . . . 0.009 0.574 D 0.996 0.715 D 0.787 0.703 P 0.000 0.843 D 0.000 0.588 P 2.735 0.802 M 0.24 0.596 T -2.18 0.491 N 0.253 0.314 -0.854 0.517 T 0.000 0.000 T . . . 5.866 0.804 27.3 0.999 0.933 0.978 0.770 D c 0.747 0.728 1.000 0.747 0.719 0.830 0 5.07 0.680 6.948 0.756 1.194 0.916 1.000 0.715 0.999 0.750 14.455 0.668 . ENSG00000225234.1|ENSG00000225234.1|ENSG00000225234.1 Adipose_Subcutaneous|Heart_Left_Ventricle|Nerve_Tibial 0.4057 0.4210 0.2745 0.4053 0.6532 0.3925 0.3712 0.4044 0.5336 0.3954 0.4240 0.3014 0.43 0.6402 0.3920 0.3568 0.4092 het 574.16 60 2 3392295 . A G 574.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.754;DP=60;Dels=0.00;FS=1.016;HRun=1;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-0.640;QD=9.57;ReadPosRankSum=-0.625;VQSLOD=5.7439;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,25:60:99:604,0,862 2 3504687 3504687 A G exonic ADI1 synonymous SNV ADI1:NM_001306077:exon3:c.T300C:p.D100D,ADI1:NM_018269:exon3:c.T318C:p.D106D 0.53 0.89 0.45 0.45 0.39 0.34 0.4086 0.8193 0.4205 0.4316 0.3603 0.3597 0.4327 0.3452 0.51 0.8 0.36 0.58 0.41 rs9950 COSM148794 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4024 0.8236 0.4181 0.4206 0.4307 0.3595 0.3574 0.3960 0.3499 0.4793 0.8174 0.4067 0.4333 0.4278 0.3472 0.3317 0.3602 het 1629.13 133 2 3504687 . A G 1629.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.038;DP=133;Dels=0.00;FS=1.399;HRun=0;HaplotypeScore=4.4072;MQ=59.86;MQ0=0;MQRankSum=-1.079;QD=12.25;ReadPosRankSum=-0.453;VQSLOD=5.2721;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,64:133:99:1659,0,1849 2 3749152 3749154 GAA - exonic ALLC nonframeshift deletion ALLC:NM_018436:exon11:c.901_903del:p.E303del 0.41 0.62 0.3 0.33 0.44 0.27 0.4576 0.6305 0.3104 0.4030 0.4438 0.4894 0.4559 0.3208 0.51 0.61 0.46 0.011 . rs796898978 COSM128720 1(ovary);1(haematopoietic_and_lymphoid_tissue);14(upper_aerodigestive_tract);5(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3908 0.6063 0.2312 0.5187 0.3457 0.3914 0.4333 0.4173 0.2888 0.4539 0.5920 0.2780 0.5232 0.3478 0.4071 0.4070 0.4180 hom 911.50 22 2 3749151 . GGAA G 911.50 Mask AC=2;AF=1.00;AN=2;DP=22;FS=0.000;HRun=0;HaplotypeScore=99.7833;MQ=59.38;MQ0=0;QD=41.43;set=variant2 GT:AD:DP:GQ:PL 1/1:1,21:22:63.21:954,63,0 2 7137067 7137067 A G exonic RNF144A nonsynonymous SNV RNF144A:NM_001349181:exon3:c.A10G:p.T4A,RNF144A:NM_001349182:exon3:c.A10G:p.T4A,RNF144A:NM_001349183:exon3:c.A10G:p.T4A,RNF144A:NM_001349184:exon3:c.A10G:p.T4A,RNF144A:NM_001349185:exon3:c.A10G:p.T4A,RNF144A:NM_014746:exon3:c.A10G:p.T4A 0.84 0.87 0.8 0.78 0.8 0.94 0.8242 0.8611 0.8126 0.8029 0.8600 0.7940 0.8194 0.9285 0.81 0.86 0.79 0.8 0.82 rs364891 COSM5617772 1(breast);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.219 P -0.69 0.019 N 1.45 0.325 T 0.28 0.162 N 0.044 0.062 -0.962 0.388 T 0.000 0.000 T . . . 0.883 0.178 9.965 0.643 0.072 0.192 0.204 N c -0.524 -0.277 1.000 0.747 0.638 0.428 0 4.74 0.596 5.431 0.660 0.138 0.222 1.000 0.715 0.998 0.697 12.779 0.567 . . . 0.8203 0.8600 0.7985 0.7306 0.8100 0.8595 0.7943 0.8090 0.9270 0.8214 0.8577 0.7883 0.7351 0.8045 0.8633 0.7969 0.8067 hom 2824.15 82 2 7137067 . A G 2824.15 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4905;MQ=59.44;MQ0=0;QD=34.44;VQSLOD=9.4283;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2857,223,0 2 7154632 7154632 T C exonic RNF144A synonymous SNV RNF144A:NM_001349181:exon4:c.T183C:p.T61T,RNF144A:NM_001349182:exon4:c.T183C:p.T61T,RNF144A:NM_001349183:exon4:c.T183C:p.T61T,RNF144A:NM_001349184:exon4:c.T183C:p.T61T,RNF144A:NM_001349185:exon4:c.T183C:p.T61T,RNF144A:NM_014746:exon4:c.T183C:p.T61T 1. 1. 1. 1. 1. 1. 0.9995 0.9999 1 0.9934 1 1.0000 0.9989 1 . . . 1. 1. rs309325 COSM4595203 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 1 1 1 0.9934 1 0.9999 0.9998 0.9999 0.9996 1 1 1 0.9932 1 1 1 hom 6512.46 224 2 7154632 . T C 6512.46 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8410;MQ=59.14;MQ0=0;QD=29.07;VQSLOD=7.1923;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,224:224:99:6511,512,0 2 9491017 9491017 C T exonic ASAP2 synonymous SNV ASAP2:NM_001135191:exon12:c.C1104T:p.L368L,ASAP2:NM_003887:exon12:c.C1104T:p.L368L 0.88 0.68 0.96 0.92 1. 0.94 0.9571 0.7249 0.9625 0.9042 0.9998 0.9979 0.9769 0.9441 0.91 0.74 1. 0.84 0.96 rs4669385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9626 0.7234 0.9621 0.9831 0.9065 1.0000 0.9985 0.9800 0.9464 0.9152 0.7266 0.9570 0.9967 0.9020 1 0.9983 0.9796 hom 2174.29 78 2 9491017 . C T 2174.29 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8773;MQ=59.76;MQ0=0;QD=27.88;VQSLOD=7.9336;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2207,175,0 2 9514917 9514917 C T exonic ASAP2 synonymous SNV ASAP2:NM_001135191:exon17:c.C1590T:p.Y530Y,ASAP2:NM_003887:exon17:c.C1590T:p.Y530Y 0.13 0.029 0.15 0.001 0.26 0.26 0.2113 0.0582 0.1021 0.0016 0.2689 0.2604 0.2595 0.2728 0.19 0.069 0.26 0.13 0.23 rs33930824 COSM3758410 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2079 0.0593 0.1106 0.2476 0.0020 0.2631 0.2576 0.2408 0.2642 0.1879 0.0623 0.1160 0.2384 0.0049 0.2483 0.2666 0.2408 hom 5756.98 196 2 9514917 . C T 5756.98 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-2.437;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6750;MQ=59.16;MQ0=0;MQRankSum=-0.510;QD=29.37;ReadPosRankSum=0.094;VQSLOD=7.9694;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,193:196:99:5711,416,0 2 9634856 9634856 A G exonic ADAM17 synonymous SNV ADAM17:NM_003183:exon15:c.T1824C:p.S608S 0.46 0.72 0.4 0.096 0.58 0.42 0.5121 0.7129 0.2735 0.0902 0.4826 0.5937 0.5441 0.4541 0.65 0.72 0.61 0.53 0.65 rs1048610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5003 0.7170 0.2982 0.6273 0.0912 0.4854 0.5958 0.5479 0.4571 0.5809 0.7159 0.3473 0.6126 0.1082 0.4630 0.5971 0.5225 hom 3593.07 117 2 9634856 . A G 3593.07 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=59.45;MQ0=0;QD=30.71;VQSLOD=9.2350;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3592,298,0 2 10045014 10045014 C T exonic TAF1B synonymous SNV TAF1B:NM_001318977:exon8:c.C69T:p.Y23Y,TAF1B:NM_001318976:exon9:c.C69T:p.Y23Y,TAF1B:NM_005680:exon9:c.C834T:p.Y278Y 0.82 0.66 0.94 0.83 0.93 0.83 0.8918 0.6859 0.9579 0.8281 0.9044 0.9342 0.9007 0.8309 0.85 0.69 0.93 0.76 0.91 rs400917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8982 0.6870 0.9537 0.9065 0.8271 0.9009 0.9385 0.9075 0.8304 0.8558 0.6903 0.9388 0.8940 0.8168 0.9057 0.9362 0.8971 hom 2142.39 70 2 10045014 . C T 2142.39 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.73;MQ0=0;QD=30.61;VQSLOD=8.6228;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2175,172,0 2 10045024 10045024 G A exonic TAF1B nonsynonymous SNV TAF1B:NM_001318977:exon8:c.G79A:p.V27I,TAF1B:NM_001318976:exon9:c.G79A:p.V27I,TAF1B:NM_005680:exon9:c.G844A:p.V282I 0.93 0.75 0.98 1. 1. 1. 0.9796 0.7904 0.9881 1 1 0.9978 0.9923 0.9998 0.93 0.8 1. 0.87 0.98 rs396190 . . . . . . . . . . . . . 0.657 0.047 T 0.0 0.026 B 0.0 0.013 B 0.023 0.264 N 1 0.090 P -1.59 0.004 N 4.94 0.014 T -0.16 0.095 N 0.009 0.081 -1.012 0.264 T 0.000 0.000 T . . . 0.110 0.104 3.720 0.505 0.043 0.004 0.019 N c -1.200 -1.080 0.112 0.167 0.706 0.609 0 3.27 0.364 0.568 0.232 0.202 0.252 0.005 0.169 0.903 0.383 1.793 0.028 . . . 0.9838 0.7896 0.9886 0.9790 1 1 0.9990 0.9887 0.9997 0.9404 0.7926 0.9856 0.9868 1 1 0.9993 0.9878 hom 2022.59 64 2 10045024 . G A 2022.59 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;QD=31.60;VQSLOD=9.2977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2056,163,0 2 10050947 10050947 T C exonic TAF1B synonymous SNV TAF1B:NM_001318977:exon9:c.T273C:p.A91A,TAF1B:NM_001318976:exon10:c.T273C:p.A91A,TAF1B:NM_005680:exon10:c.T1038C:p.A346A 0.43 0.13 0.54 0.45 0.66 0.51 0.5743 0.1991 0.4737 0.4761 0.6050 0.6721 0.6225 0.5227 0.51 0.21 0.67 0.4 0.66 rs1054561 COSM3757519 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5768 0.1930 0.4801 0.6321 0.4725 0.6000 0.6764 0.6181 0.5260 0.5169 0.2086 0.5119 0.6854 0.4702 0.6094 0.6711 0.6033 het 1557.25 104 2 10050947 . T C 1557.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.207;DP=104;Dels=0.00;FS=1.639;HRun=1;HaplotypeScore=2.7976;MQ=58.29;MQ0=0;MQRankSum=-0.024;QD=14.97;ReadPosRankSum=-0.501;VQSLOD=5.5798;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,57:104:99:1587,0,1186 2 10050960 10050960 A G exonic TAF1B nonsynonymous SNV TAF1B:NM_001318977:exon9:c.A286G:p.T96A,TAF1B:NM_001318976:exon10:c.A286G:p.T96A,TAF1B:NM_005680:exon10:c.A1051G:p.T351A 0.43 0.13 0.54 0.45 0.66 0.51 0.5743 0.1992 0.4737 0.4759 0.6053 0.6720 0.6225 0.5228 0.51 0.21 0.67 0.4 0.66 rs1054565 COSM3757520 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.269 0.161 T 0.024 0.178 B 0.005 0.104 B 0.026 0.260 N 1 0.090 P 1.345 0.336 L 3.96 0.034 T -0.78 0.216 N 0.017 0.008 -1.073 0.089 T 0.000 0.000 T . . . 0.243 0.117 5.127 0.940 0.234 0.415 0.264 N c -0.587 -0.490 0.935 0.272 0.732 0.924 0 2.11 0.262 1.320 0.331 1.140 0.893 0.907 0.314 0.960 0.441 5.882 0.180 . ENSG00000269973.1|ENSG00000269973.1|ENSG00000115750.12|ENSG00000115750.12|ENSG00000115750.12|ENSG00000269973.1|ENSG00000115750.12|ENSG00000115750.12|ENSG00000115750.12 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.5766 0.1927 0.4791 0.6318 0.4720 0.6002 0.6763 0.6176 0.5257 0.5169 0.2091 0.5119 0.6854 0.4702 0.6095 0.6708 0.6045 het 1422.17 106 2 10050960 . A G 1422.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.622;DP=106;Dels=0.00;FS=2.521;HRun=0;HaplotypeScore=3.4591;MQ=59.35;MQ0=0;MQRankSum=0.715;QD=13.42;ReadPosRankSum=-0.107;VQSLOD=6.0635;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,55:106:99:1452,0,1390 2 10059770 10059770 G T exonic TAF1B nonsynonymous SNV TAF1B:NM_001318977:exon13:c.G621T:p.E207D,TAF1B:NM_001318976:exon14:c.G621T:p.E207D,TAF1B:NM_005680:exon14:c.G1386T:p.E462D 0.44 0.13 0.54 0.48 0.67 0.52 0.5827 0.1999 0.4746 0.4942 0.6491 0.6795 0.6322 0.5246 0.52 0.21 0.67 0.4 0.65 rs1820965 COSM3757521 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.986 0.020 T 0.0 0.026 B 0.0 0.013 B 0.324 0.142 N 1 0.090 P -2.4 0.001 N 1.13 0.386 T 0.13 0.055 N 0.018 0.014 -0.965 0.382 T 0.000 0.000 T . . . -0.503 0.055 0.215 0.217 0.008 0.041 0.094 N c -1.094 -0.919 0.049 0.148 0.706 0.609 0 1.66 0.230 0.482 0.218 0.087 0.193 0.978 0.348 0.306 0.238 1.416 0.021 . ENSG00000269973.1|ENSG00000269973.1|ENSG00000115750.12|ENSG00000115750.12|ENSG00000115750.12|ENSG00000269973.1|ENSG00000115750.12|ENSG00000115750.12|ENSG00000269973.1 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5847 0.1955 0.4824 0.6325 0.4908 0.6428 0.6815 0.6205 0.5274 0.5275 0.2102 0.5144 0.6854 0.4763 0.6489 0.6807 0.6237 het 982.75 90 2 10059770 . G T 982.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.847;DP=90;Dels=0.00;FS=5.269;HRun=1;HaplotypeScore=2.6722;MQ=57.70;MQ0=0;MQRankSum=-0.337;QD=10.92;ReadPosRankSum=-1.303;VQSLOD=4.4514;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,40:90:99:1013,0,1288 2 10095185 10095185 T C exonic GRHL1 synonymous SNV GRHL1:NM_198182:exon2:c.T162C:p.D54D 0.17 0.44 0.1 0.011 0.15 0.069 0.1322 0.3952 0.0775 0.0082 0.0767 0.1366 0.1244 0.0845 0.2 0.34 0.13 0.28 . rs16867251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1228 0.3931 0.0808 0.1349 0.0079 0.0784 0.1338 0.1350 0.0853 0.1915 0.3930 0.0943 0.1126 0.0068 0.0763 0.1326 0.1276 het 849.64 75 2 10095185 . T C 849.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.067;DP=75;Dels=0.00;FS=7.012;HRun=0;HaplotypeScore=0.0000;MQ=57.86;MQ0=0;MQRankSum=1.744;QD=11.33;ReadPosRankSum=0.684;VQSLOD=4.6048;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,36:75:99:880,0,1019 2 10101468 10101468 A G exonic GRHL1 nonsynonymous SNV GRHL1:NM_198182:exon4:c.A572G:p.N191S 0.18 0.44 0.11 0.012 0.15 0.074 0.1322 0.3897 0.0760 0.0081 0.0762 0.1352 0.1222 0.0850 0.21 0.36 0.13 0.28 0.2 rs16867256 COSM5904723;COSM5904721;COSM5904722 1(skin) . . . . . . . . . . . 0.78 0.033 T 0.0 0.026 B 0.0 0.013 B 0.085 0.207 N 1 0.090 P . . . 2.8 0.111 T -0.28 0.116 N 0.003 0.000 -0.954 0.403 T 0.000 0.000 T . . . -3.190 0.001 0.001 0.309 0.017 0.106 0.159 N c -1.988 -2.023 1.000 0.747 0.615 0.372 0 -8.89 0.007 -0.411 0.071 -1.917 0.006 0.000 0.063 0.001 0.043 10.473 0.436 . ENSG00000134317.13 Skin_Sun_Exposed_Lower_leg 0.1234 0.3936 0.0810 0.1353 0.0079 0.0784 0.1343 0.1353 0.0870 0.1931 0.3974 0.0967 0.1126 0.0068 0.0758 0.1334 0.1263 het 4192.89 248 2 10101468 . A G 4192.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.599;DP=248;DS;Dels=0.00;FS=9.240;HRun=0;HaplotypeScore=5.6305;MQ=59.52;MQ0=0;MQRankSum=1.485;QD=16.91;ReadPosRankSum=0.090;VQSLOD=4.0381;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:119,129:248:99:3560,0,3268 2 10126330 10126330 G A exonic GRHL1 nonsynonymous SNV GRHL1:NM_198182:exon9:c.G1189A:p.V397I 0.26 0.31 0.4 0.26 0.23 0.14 0.2537 0.3188 0.4538 0.2753 0.3199 0.2257 0.2445 0.1483 0.25 0.31 0.21 0.27 0.28 rs2303920 COSM3757525;COSM148796;COSM3757524 1(stomach);1(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 0.999 0.211 P -1.79 0.003 N 2.42 0.154 T 0.79 0.019 N 0.091 0.112 -0.929 0.443 T 0.000 0.000 T . . . 1.161 0.206 11.54 0.198 0.007 0.240 0.220 N c -0.841 -0.554 1.000 0.747 0.554 0.246 0 5.49 0.809 6.313 0.726 0.126 0.213 1.000 0.715 0.981 0.494 11.477 0.494 CP2 transcription factor ENSG00000134317.13|ENSG00000134317.13|ENSG00000134317.13 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg|Thyroid 0.2590 0.3165 0.4410 0.2713 0.2622 0.3236 0.2117 0.2680 0.1495 0.2740 0.3185 0.3983 0.2433 0.2528 0.3202 0.2336 0.2725 het 3160.98 250 2 10126330 . G A 3160.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.289;DP=250;DS;Dels=0.00;FS=3.506;HRun=2;HaplotypeScore=9.8815;MQ=59.27;MQ0=0;MQRankSum=-0.360;QD=12.64;ReadPosRankSum=-0.620;VQSLOD=4.2485;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,119:250:99:3191,0,3622 2 10188649 10188649 A T exonic KLF11 synonymous SNV KLF11:NM_001177716:exon3:c.A1134T:p.V378V,KLF11:NM_001177718:exon3:c.A1134T:p.V378V,KLF11:NM_003597:exon3:c.A1185T:p.V395V 0.84 0.82 0.87 0.83 0.82 0.85 0.8340 0.8213 0.9110 0.8467 0.9085 0.8176 0.8656 0.8158 0.81 0.81 0.81 0.78 0.85 rs11687357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8369 0.8192 0.9036 0.8516 0.8488 0.9062 0.8081 0.8510 0.8146 0.8352 0.8155 0.8911 0.8411 0.8562 0.8940 0.8258 0.8595 het 2491.09 195 2 10188649 . A T 2491.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.612;DP=195;Dels=0.00;FS=0.540;HRun=1;HaplotypeScore=3.8070;MQ=58.98;MQ0=0;MQRankSum=0.208;QD=12.77;ReadPosRankSum=-1.097;VQSLOD=5.8167;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:100,95:195:99:2521,0,2562 2 10262920 10262920 T G exonic RRM2 nonsynonymous SNV RRM2:NM_001165931:exon1:c.T175G:p.S59A 0.65 0.95 0.55 0.34 0.73 0.56 0.7160 0.9107 0.6226 0.4320 0.7613 0.7548 0.7414 0.6091 0.77 0.89 0.71 0.52 0.32 rs1130609 COSM440905 3(thyroid) . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.299 0.039 N 1 0.195 P . . . -4.43 0.975 D 0.21 0.048 N 0.026 0.008 -0.902 0.478 T 0.000 0.000 T . . . -0.290 0.069 0.701 0.764 0.111 0.018 0.056 N c -1.193 -1.365 1.000 0.747 0.442 0.072 0 -3.44 0.045 -2.101 0.014 -1.134 0.018 0.000 0.063 0.000 0.016 1.206 0.018 . ENSG00000171848.9 Colon_Transverse 0.6581 0.9088 0.5351 0.6878 0.3285 0.7165 0.7283 0.6859 0.5900 0.7479 0.9040 0.5916 0.6523 0.3278 0.7250 0.7214 0.6994 hom 545.20 20 2 10262920 . T G 545.20 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.91;MQ0=0;QD=27.26;VQSLOD=7.5382;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:48.14:578,48,0 2 10350599 10350599 G C exonic C2orf48 nonsynonymous SNV C2orf48:NM_182626:exon4:c.G356C:p.W119S 0.029 0.0038 0.039 . 0.095 0.015 0.0611 0.0149 0.0396 0 0.0712 0.0893 0.0798 0.0181 0.068 0.018 0.093 . 0.049 rs7423163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0615 0.0134 0.0422 0.0627 5.798e-05 0.0746 0.0917 0.0762 0.0192 0.0601 0.0135 0.0477 0.0728 0 0.0808 0.0888 0.0694 het 858.39 83 2 10350599 . G C 858.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.625;DP=83;Dels=0.00;FS=1.986;HRun=0;HaplotypeScore=1.5661;MQ=59.55;MQ0=0;MQRankSum=0.616;QD=10.34;ReadPosRankSum=-0.949;VQSLOD=6.3245;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,34:83:99:888,0,1390 2 10717806 10717806 C T exonic NOL10 nonsynonymous SNV NOL10:NM_001261392:exon19:c.G1825A:p.D609N,NOL10:NM_001261394:exon19:c.G1753A:p.D585N,NOL10:NM_024894:exon20:c.G1903A:p.D635N 0.13 0.011 0.18 0.13 0.27 0.12 0.2300 0.0524 0.1404 0.1229 0.2049 0.3091 0.2412 0.1439 0.22 0.059 0.3 0.16 . rs2287059 COSM4001118;COSM4001119 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.327 0.145 T 0.003 0.353 B 0.004 0.339 B 0.000 0.843 D 0.000 0.588 P 2.215 0.627 M 0.95 0.433 T -0.63 0.185 N 0.059 0.147 -1.010 0.269 T 0.000 0.000 T . . . 3.250 0.450 22.8 0.998 0.850 0.952 0.636 D c 0.103 0.253 1.000 0.747 0.732 0.924 0 5.99 0.973 3.183 0.504 0.016 0.142 0.992 0.373 0.634 0.295 20.478 0.992 . ENSG00000243819.3|ENSG00000243819.3|ENSG00000243819.3|ENSG00000243819.3|ENSG00000243819.3|ENSG00000243819.3|ENSG00000115761.11|ENSG00000243819.3 Adipose_Subcutaneous|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Testis|Thyroid 0.2165 0.0454 0.1382 0.3166 0.1191 0.1901 0.2979 0.2515 0.1284 0.1956 0.0543 0.1659 0.4033 0.1228 0.1906 0.2812 0.2413 het 219.34 37 2 10717806 . C T 219.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.841;DP=37;Dels=0.00;FS=1.378;HRun=1;HaplotypeScore=0.0000;MQ=57.78;MQ0=0;MQRankSum=-1.445;QD=5.93;ReadPosRankSum=1.013;VQSLOD=2.3109;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,11:37:99:249,0,592 2 10908893 10908893 A G exonic ATP6V1C2 nonsynonymous SNV ATP6V1C2:NM_001039362:exon6:c.A427G:p.N143D,ATP6V1C2:NM_144583:exon6:c.A427G:p.N143D 0.45 0.34 0.44 0.66 0.36 0.49 0.4212 0.3344 0.4907 0.6416 0.3742 0.3857 0.4623 0.4713 0.36 0.33 0.37 0.35 0.36 rs1198849 COSM4001122;COSM4001123 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.009 0.614 D 0.112 0.247 B 0.266 0.380 B 0.000 0.629 D 0.001 0.454 P . . . 0.6 0.537 T -4.66 0.808 D 0.043 0.036 -0.934 0.435 T 0.000 0.000 T . . . 2.706 0.386 20.8 0.989 0.483 0.964 0.685 D c -0.089 -0.067 1.000 0.747 0.554 0.246 0 4.48 0.538 5.728 0.680 -0.165 0.106 1.000 0.715 0.773 0.328 10.718 0.450 . ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000143882.5|ENSG00000272275.1|ENSG00000143882.5|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Spleen|Stomach|Testis|Thyroid 0.4256 0.3317 0.4855 0.5265 0.6344 0.3851 0.3745 0.4393 0.4701 0.3763 0.3294 0.4570 0.5066 0.6300 0.3887 0.3647 0.3975 het 1592.08 126 2 10908893 . A G 1592.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.212;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7559;MQ=58.89;MQ0=0;MQRankSum=1.758;QD=12.64;ReadPosRankSum=-0.368;VQSLOD=4.6145;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,67:126:99:1622,0,1460 2 11053020 11053020 A G exonic KCNF1 synonymous SNV KCNF1:NM_002236:exon1:c.A468G:p.A156A 0.89 0.98 0.83 0.97 0.84 0.8 0.8534 0.9521 0.8796 0.9532 0.7625 0.8392 0.8371 0.8203 0.88 0.95 0.84 0.63 0.61 rs3732104 COSM440976 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8515 0.9547 0.8720 0.8611 0.9545 0.7775 0.8374 0.8526 0.8195 0.8582 0.9520 0.8663 0.85 0.9562 0.7765 0.8142 0.8235 hom 1967.79 63 2 11053020 . A G 1967.79 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.23;VQSLOD=13.1750;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2001,168,0 2 11359120 11359120 G T exonic ROCK2 nonsynonymous SNV ROCK2:NM_001321643:exon10:c.C1034A:p.T345N,ROCK2:NM_004850:exon10:c.C1292A:p.T431N 0.4 0.2 0.56 0.39 0.53 0.43 0.4981 0.2539 0.5822 0.4238 0.5452 0.5343 0.5212 0.4563 0.45 0.27 0.53 0.38 0.53 rs2230774 COSM4778221;COSM148799 1(stomach);14(soft_tissue);3(prostate);1(large_intestine) Benign not_specified RCV000454422.1 MedGen CN169374 . . . . . . 0.874 0.027 T 0.0 0.026 B 0.0 0.013 B 0.021 0.270 N 0.999 0.220 P -1.285 0.007 N 0.02 0.623 T 0.3 0.041 N 0.022 0.051 -0.919 0.457 T 0.000 0.000 T . . . 0.911 0.181 10.14 0.389 0.026 0.009 0.036 N c -0.896 -0.600 0.977 0.297 0.732 0.924 0 4.39 0.520 1.025 0.295 0.054 0.162 1.000 0.715 0.996 0.625 6.436 0.209 . ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.4866 0.2395 0.5383 0.4383 0.3958 0.5395 0.5280 0.4993 0.4341 0.4701 0.2578 0.5695 0.4570 0.3960 0.5512 0.5723 0.5532 het 759.38 89 2 11359120 . G T 759.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.303;DP=89;Dels=0.00;FS=0.802;HRun=3;HaplotypeScore=0.9979;MQ=60.00;MQ0=0;MQRankSum=0.389;QD=8.53;ReadPosRankSum=0.706;VQSLOD=5.7927;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,36:89:99:789,0,1364 2 11702661 11702661 A C exonic GREB1 nonsynonymous SNV GREB1:NM_014668:exon3:c.A230C:p.N77T,GREB1:NM_033090:exon3:c.A230C:p.N77T,GREB1:NM_148903:exon3:c.A230C:p.N77T 0.42 0.033 0.51 0.55 0.54 0.59 0.5328 0.1134 0.5423 0.4979 0.6744 0.5732 0.5514 0.5927 0.42 0.13 0.56 0.4 0.48 rs10929757 COSM4133020;COSM4133022;COSM4133021 2(thyroid) . . . . . . . . . . . 0.179 0.220 T 0.002 0.102 B 0.007 0.133 B 0.003 0.361 N 1 0.189 P 0.6 0.156 N 3.33 0.166 T -0.34 0.156 N 0.046 0.104 -0.952 0.407 T 0.000 0.000 T . . . -0.190 0.077 1.153 0.909 0.196 0.461 0.275 N c -0.640 -0.603 0.993 0.330 0.706 0.609 0 1.6 0.226 3.256 0.509 1.082 0.851 0.522 0.269 0.297 0.237 1.527 0.024 . . . 0.5427 0.1087 0.5358 0.5294 0.5094 0.6656 0.5735 0.5462 0.5821 0.4592 0.1164 0.5048 0.5563 0.5175 0.6738 0.5911 0.5564 hom 6609.70 203 2 11702661 . A C 6609.70 Mask AC=2;AF=1.00;AN=2;DP=203;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7241;MQ=59.52;MQ0=0;QD=32.56;VQSLOD=9.5283;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:6609,518,0 2 11738091 11738091 T C exonic GREB1 synonymous SNV GREB1:NM_014668:exon14:c.T2139C:p.H713H 0.92 0.76 0.97 0.97 0.99 0.96 0.9722 0.7985 0.9833 0.9757 0.9998 0.9954 0.9822 0.9602 0.94 0.82 1. 0.89 0.93 rs1435547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9755 0.7940 0.9835 0.9789 0.9765 0.9999 0.9965 0.9792 0.9606 0.9396 0.8006 0.9761 0.9868 0.9723 1 0.9969 0.9827 hom 7418.72 235 2 11738091 . T C 7418.72 Mask AC=2;AF=1.00;AN=2;DP=235;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=31.57;VQSLOD=9.2321;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,235:235:99:7417,650,0 2 11752635 11752635 T C exonic GREB1 synonymous SNV GREB1:NM_014668:exon19:c.T3021C:p.I1007I 0.98 0.95 0.99 0.98 1. 0.98 0.9908 0.9569 0.9914 0.9782 0.9998 0.9969 0.9889 0.9888 0.99 0.96 1. 0.97 0.99 rs2304399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9914 0.9565 0.9924 0.9835 0.9785 0.9999 0.9978 0.9872 0.9890 0.9859 0.9601 0.9881 0.9934 0.9753 0.9997 0.9979 0.9949 hom 2473.28 81 2 11752635 . T C 2473.28 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.25;MQ0=0;QD=30.53;VQSLOD=9.1781;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2506,199,0 2 11774324 11774324 G A exonic GREB1 nonsynonymous SNV GREB1:NM_014668:exon29:c.G5059A:p.D1687N 0.41 0.42 0.36 0.3 0.48 0.45 0.4485 0.4301 0.2927 0.3008 0.4349 0.4994 0.4389 0.4458 0.48 0.42 0.51 0.58 0.47 rs2304402 COSM4001154 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.785 0.032 T 0.001 0.067 B 0.002 0.063 B 0.001 0.419 N 1.000 0.186 P -0.915 0.013 N 1.02 0.407 T 1.03 0.014 N 0.03 0.025 -0.912 0.466 T 0.000 0.000 T . . . 0.681 0.159 8.705 0.813 0.131 0.069 0.128 N c -1.218 -1.073 0.979 0.299 0.719 0.830 0 1.17 0.199 1.230 0.320 -0.118 0.114 0.535 0.270 0.301 0.237 9.407 0.374 . . . 0.4417 0.4309 0.3017 0.5195 0.2971 0.4343 0.5014 0.4520 0.4435 0.4544 0.4377 0.3520 0.5132 0.3097 0.4387 0.4887 0.4409 hom 6244.02 194 2 11774324 . G A 6244.02 Mask AC=2;AF=1.00;AN=2;DP=194;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7107;MQ=59.81;MQ0=0;QD=32.19;VQSLOD=9.2388;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:194:99:6243,494,0 2 15601441 15601441 C T exonic NBAS synonymous SNV NBAS:NM_015909:exon21:c.G2223A:p.L741L 0.52 0.56 0.63 0.22 0.69 0.54 0.6049 0.5796 0.5506 0.2117 0.5738 0.6790 0.5826 0.5791 0.65 0.58 0.68 0.58 0.61 rs7590340 COSM3757685 3(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6047 0.5804 0.5613 0.7283 0.2145 0.5769 0.6808 0.6352 0.5818 0.6050 0.5804 0.5863 0.7185 0.2086 0.5827 0.6652 0.6166 het 1419.81 108 2 15601441 . C T 1419.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.394;DP=108;Dels=0.00;FS=1.651;HRun=0;HaplotypeScore=0.0000;MQ=59.79;MQ0=0;MQRankSum=-0.769;QD=13.15;ReadPosRankSum=-1.674;VQSLOD=6.0187;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,57:108:99:1450,0,1395 2 15607842 15607842 T C exonic NBAS nonsynonymous SNV NBAS:NM_015909:exon18:c.A1964G:p.K655R 0.36 0.11 0.57 0.16 0.69 0.42 0.5505 0.2012 0.5121 0.1531 0.5722 0.6777 0.5546 0.4795 0.52 0.22 0.68 0.3 0.52 rs4668909 COSM1741288 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);2(large_intestine) . . . . . . . . . . . 0.453 0.089 T 0.0 0.026 B 0.002 0.063 B 0.000 0.537 N 1 0.205 P 0.915 0.234 L 3.02 0.090 T -0.61 0.181 N 0.025 0.007 -0.985 0.337 T 0.000 0.000 T . . . -0.097 0.085 1.751 0.968 0.306 0.678 0.333 D c -0.881 -0.837 0.000 0.065 0.732 0.924 0 -1.26 0.088 1.459 0.346 -0.308 0.079 0.997 0.399 0.253 0.228 12.019 0.524 . ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial|Testis|Thyroid 0.5556 0.1949 0.5205 0.7210 0.1483 0.5759 0.6775 0.6049 0.4838 0.4929 0.2113 0.5407 0.7152 0.1281 0.5834 0.6618 0.5859 het 941.15 55 2 15607842 . T C 941.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.852;DP=55;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=58.73;MQ0=0;MQRankSum=0.142;QD=17.11;ReadPosRankSum=-1.349;VQSLOD=6.5654;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,33:55:99:971,0,557 2 15614404 15614404 T C exonic NBAS synonymous SNV NBAS:NM_015909:exon15:c.A1386G:p.R462R 0.52 0.55 0.62 0.22 0.69 0.53 0.6050 0.5721 0.5519 0.2167 0.5743 0.6807 0.5820 0.5692 0.65 0.57 0.68 0.56 0.55 rs13014906 COSM3757686 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6026 0.5703 0.5607 0.7281 0.2153 0.5769 0.6809 0.6336 0.5702 0.6014 0.5695 0.5839 0.7185 0.2078 0.5829 0.6643 0.6161 het 818.50 58 2 15614404 . T C 818.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.247;DP=58;Dels=0.00;FS=7.487;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.016;QD=14.11;ReadPosRankSum=0.639;VQSLOD=4.9850;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:848,0,744 2 15615910 15615910 A G exonic NBAS synonymous SNV NBAS:NM_015909:exon14:c.T1242C:p.S414S 0.49 0.52 0.6 0.17 0.69 0.51 0.5909 0.5415 0.5294 0.1558 0.5730 0.6771 0.5727 0.5518 0.64 0.54 0.68 0.52 0.64 rs1990754 COSM148803 1(stomach);2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5906 0.5417 0.5392 0.7283 0.1537 0.5763 0.6792 0.6264 0.5545 0.5869 0.5371 0.5625 0.7185 0.1323 0.5819 0.6632 0.6100 het 848.43 79 2 15615910 . A G 848.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.853;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6385;MQ=57.69;MQ0=1;MQRankSum=-0.610;QD=10.74;ReadPosRankSum=0.250;VQSLOD=4.9150;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,37:79:99:878,0,1074 2 15674686 15674686 T C exonic NBAS nonsynonymous SNV NBAS:NM_015909:exon9:c.A727G:p.I243V 0.39 0.21 0.58 0.16 0.69 0.42 0.5553 0.2781 0.5144 0.1510 0.5724 0.6741 0.5584 0.4833 0.55 0.3 0.68 0.36 0.65 rs13029846 COSM3757687 4(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.704 0.041 T 0.001 0.067 B 0.002 0.063 B 0.015 0.285 N 1 0.266 P 1.135 0.291 L 0.9 0.453 T 0.15 0.053 N 0.029 0.010 -0.931 0.440 T 0.000 0.000 T . . . -0.628 0.048 0.107 0.449 0.034 0.083 0.141 N c -0.964 -0.979 0.013 0.125 0.706 0.609 0 -4.29 0.034 -0.082 0.112 -0.217 0.098 0.001 0.137 0.922 0.397 9.352 0.371 Neuroblastoma-amplified sequence\x2c N-terminal|Quinoprotein amine dehydrogenase\x2c beta chain-like|WD40/YVTN repeat-like-containing domain ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8 Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial|Testis|Thyroid 0.5613 0.2745 0.5236 0.7081 0.1495 0.5764 0.6771 0.6060 0.4899 0.5135 0.2848 0.5453 0.7185 0.1324 0.5825 0.6613 0.5816 het 2558.11 244 2 15674686 . T C 2558.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.356;DP=244;Dels=0.00;FS=3.009;HRun=0;HaplotypeScore=8.4674;MQ=59.16;MQ0=0;MQRankSum=0.606;QD=10.48;ReadPosRankSum=1.021;VQSLOD=4.4657;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:134,109:244:99:2588,0,3477 2 15747393 15747393 C T exonic DDX1 synonymous SNV DDX1:NM_004939:exon13:c.C912T:p.N304N 0.74 0.84 0.62 0.87 0.55 0.78 0.6428 0.8131 0.6754 0.8911 0.5277 0.5686 0.6004 0.7306 0.65 0.81 0.57 0.76 0.59 rs10929378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6390 0.8166 0.6784 0.5775 0.8869 0.5336 0.5695 0.6031 0.7236 0.6525 0.8088 0.6483 0.5993 0.8886 0.5287 0.5715 0.5692 het 1100.79 129 2 15747393 . C T 1100.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.049;DP=129;Dels=0.00;FS=1.611;HRun=0;HaplotypeScore=1.9573;MQ=59.35;MQ0=0;MQRankSum=-0.052;QD=8.53;ReadPosRankSum=0.191;VQSLOD=6.4701;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,44:129:99:1131,0,2417 2 17696573 17696573 C T exonic RAD51AP2 nonsynonymous SNV RAD51AP2:NM_001099218:exon1:c.G3110A:p.G1037D,RAD51AP2:NM_001321233:exon5:c.G3083A:p.G1028D 0.58 0.13 0.63 0.88 0.62 0.8 0.6441 0.2132 0.7616 0.8785 0.6832 0.6162 0.6833 0.7897 0.51 0.26 0.62 0.48 0.54 rs834514 COSM5001941 1(pancreas) . . . . . . . . . . . 0.156 0.241 T 0.087 0.234 B 0.063 0.256 B . . . 1 0.090 P 0.625 0.159 N 1.45 0.325 T -3.77 0.714 D 0.078 0.069 -1.071 0.092 T 0.000 0.000 T . . . 0.802 0.170 9.475 0.470 0.038 0.055 0.112 N c -0.930 -0.923 0.472 0.207 0.554 0.283 0 2.29 0.275 0.339 0.195 0.855 0.374 0.000 0.063 0.076 0.179 5.672 0.169 . ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000214842.5|ENSG00000178295.10|ENSG00000163032.7|ENSG00000163029.11|ENSG00000178295.10|ENSG00000178295.10|ENSG00000214842.5|ENSG00000163029.11|ENSG00000178295.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Esophagus_Mucosa|Heart_Left_Ventricle|Liver|Liver|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid 0.6536 0.2015 0.7541 0.5854 0.8751 0.6794 0.6171 0.6366 0.7836 0.5265 0.2194 0.6983 0.5927 0.8901 0.6765 0.6122 0.6464 het 892.87 87 2 17696573 . C T 892.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.944;DP=87;Dels=0.00;FS=4.249;HRun=0;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;MQRankSum=1.935;QD=10.26;ReadPosRankSum=0.952;VQSLOD=4.7082;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,38:87:99:923,0,1326 2 17698678 17698678 A G exonic RAD51AP2 synonymous SNV RAD51AP2:NM_001099218:exon1:c.T1005C:p.S335S,RAD51AP2:NM_001321233:exon5:c.T978C:p.S326S 0.6 0.16 0.66 0.88 0.65 0.8 0.6720 0.2463 0.7962 0.8784 0.6972 0.6489 0.7054 0.8111 0.55 0.29 0.66 0.49 0.57 rs665312 COSM3757783 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6815 0.2323 0.7898 0.6131 0.8750 0.6924 0.6507 0.6667 0.8058 0.5531 0.2506 0.7279 0.6133 0.8910 0.6927 0.6418 0.6694 het 649.51 56 2 17698678 . A G 649.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.422;DP=56;Dels=0.00;FS=14.890;HRun=0;HaplotypeScore=1.6483;MQ=59.67;MQ0=0;MQRankSum=1.250;QD=11.60;ReadPosRankSum=0.455;VQSLOD=4.0434;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,24:56:99:680,0,762 2 17884495 17884495 C T exonic SMC6 nonsynonymous SNV SMC6:NM_024624:exon18:c.G2071A:p.A691T,SMC6:NM_001142286:exon19:c.G2071A:p.A691T 0.21 0.35 0.22 0.012 0.32 0.079 0.2702 0.3293 0.1499 0.0157 0.4009 0.3423 0.2645 0.1065 0.33 0.32 0.33 0.2 0.16 rs1065381 . . . . . . . . . . . . . 0.225 0.186 T 0.0 0.026 B 0.002 0.080 B 0.051 0.230 N 0.968 0.258 P 0.205 0.094 N 1.57 0.317 T 0.02 0.068 N 0.01 0.002 -0.916 0.461 T 0.000 0.000 T . . . 1.434 0.235 12.96 0.894 0.182 0.797 0.393 D c -0.671 -0.516 0.222 0.184 0.732 0.924 0 1.55 0.222 0.610 0.238 0.807 0.329 0.999 0.424 0.949 0.424 4.267 0.101 RecF/RecN/SMC\x2c N-terminal ENSG00000163029.11 Thyroid 0.2593 0.3201 0.1435 0.3175 0.0143 0.4008 0.3320 0.2760 0.1027 0.3173 0.3178 0.2005 0.3377 0.0180 0.3924 0.3378 0.3197 het 468.78 62 2 17884495 . C T 468.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.618;DP=62;Dels=0.00;FS=1.099;HRun=0;HaplotypeScore=1.8100;MQ=59.02;MQ0=0;MQRankSum=1.019;QD=7.56;ReadPosRankSum=0.394;VQSLOD=6.1694;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,23:62:99:499,0,1006 2 17942775 17942775 T A exonic GEN1 nonsynonymous SNV GEN1:NM_001130009:exon3:c.T274A:p.S92T,GEN1:NM_182625:exon3:c.T274A:p.S92T 0.81 0.77 0.78 0.99 0.64 0.9 0.7138 0.7665 0.8463 0.9842 0.5714 0.6217 0.7225 0.8746 0.67 0.76 0.63 0.83 0.68 rs1812152 . . . . . . . . . . . . . 1.0 0.089 T 0.0 0.026 B 0.002 0.063 B 0.084 0.207 N 1.000 0.588 P -0.86 0.015 N -0.01 0.628 T 1.56 0.008 N 0.023 0.084 -1.005 0.284 T 0.000 0.000 T . . . 0.082 0.102 3.418 0.698 0.088 0.022 0.063 N c -1.146 -1.024 0.987 0.312 0.732 0.924 0 0.326 0.151 0.663 0.246 0.242 0.267 0.128 0.231 0.953 0.430 6.29 0.201 PIN domain-like|XPG N-terminal ENSG00000163029.11 Thyroid 0.7162 0.7641 0.8391 0.6554 0.9843 0.5718 0.6234 0.6891 0.8736 0.6849 0.7717 0.7912 0.6376 0.9790 0.5835 0.6234 0.6493 het 1540.09 98 2 17942775 . T A 1540.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.317;DP=98;Dels=0.00;FS=3.837;HRun=0;HaplotypeScore=1.9402;MQ=59.53;MQ0=0;MQRankSum=0.511;QD=15.72;ReadPosRankSum=-0.007;VQSLOD=6.0666;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,57:98:99:1570,0,1029 2 17946243 17946243 A G exonic GEN1 nonsynonymous SNV GEN1:NM_001130009:exon4:c.A428G:p.N143S,GEN1:NM_182625:exon4:c.A428G:p.N143S 0.13 0.24 0.12 0.034 0.11 0.099 0.1045 0.2356 0.0715 0.0336 0.0770 0.1042 0.0903 0.0950 0.15 0.23 0.1 0.16 0.22 rs16981869 COSM4001384 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.03 0.453 D 0.812 0.435 P 0.553 0.475 P 0.011 0.297 N 0.485 0.588 P 2.21 0.624 M -0.45 0.699 T -4.4 0.773 D 0.048 0.029 -1.083 0.067 T 0.000 0.000 T . . . 3.262 0.451 22.8 0.993 0.573 0.971 0.725 D c -0.097 -0.120 0.997 0.355 0.719 0.830 0 3.32 0.370 7.122 0.766 0.239 0.266 1.000 0.715 0.625 0.293 8.027 0.294 PIN domain-like|XPG-I domain ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000163029.11|ENSG00000178295.10|ENSG00000178295.10|ENSG00000163029.11|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000163029.11|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.1002 0.2385 0.0739 0.0997 0.0353 0.0790 0.1044 0.1044 0.0963 0.1391 0.2383 0.0919 0.1126 0.0334 0.0784 0.1127 0.0992 het 2393.51 170 2 17946243 . A G 2393.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.510;DP=170;Dels=0.00;FS=3.558;HRun=0;HaplotypeScore=6.6191;MQ=59.12;MQ0=0;MQRankSum=-1.013;QD=14.08;ReadPosRankSum=1.808;VQSLOD=4.1034;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,87:170:99:2424,0,2184 2 17954027 17954027 G A exonic GEN1 nonsynonymous SNV GEN1:NM_001130009:exon8:c.G929A:p.S310N,GEN1:NM_182625:exon8:c.G929A:p.S310N 0.98 0.94 1. 1. 1. 0.97 0.9932 0.9521 0.9979 0.9998 1 0.9998 0.9989 0.9830 0.98 0.95 1. 1. 0.97 rs300175 . . . . . . . . . . . . . 0.706 0.041 T 0.001 0.067 B 0.001 0.040 B 0.252 0.037 N 1 0.090 P -0.66 0.021 N 0.81 0.485 T 0.46 0.031 N 0.085 0.080 -0.973 0.365 T 0.000 0.000 T . . . -3.164 0.001 0.001 0.646 0.073 0.008 0.033 N c -2.520 -2.556 1.000 0.747 0.732 0.924 0 -11.3 0.001 -2.300 0.012 -3.279 0.001 0.000 0.063 0.001 0.043 6.736 0.225 . . . 0.9944 0.9513 0.9973 0.9986 0.9998 1 0.9999 0.9980 0.9843 0.9882 0.9588 0.9976 1 1 1 1 0.9949 hom 1385.38 44 2 17954027 . G A 1385.38 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.05;MQ0=0;QD=31.49;VQSLOD=8.5366;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1418,114,0 2 17962518 17962518 C T exonic GEN1 nonsynonymous SNV GEN1:NM_001130009:exon14:c.C2039T:p.T680I,GEN1:NM_182625:exon14:c.C2039T:p.T680I 0.76 0.57 0.76 0.99 0.64 0.9 0.6981 0.6009 0.8358 0.9843 0.5717 0.6210 0.7058 0.8743 0.62 0.61 0.62 0.76 0.61 rs300169 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.184 0.170 N 1 0.090 P -1.845 0.003 N 2.01 0.213 T 0.46 0.031 N 0.021 0.005 -0.997 0.308 T 0.000 0.000 T . . . -0.073 0.087 1.943 0.697 0.088 0.004 0.020 N c -1.381 -1.202 0.990 0.320 0.707 0.730 0 1.16 0.198 0.165 0.163 -0.251 0.090 0.001 0.137 0.862 0.360 0.545 0.006 . ENSG00000163029.11 Thyroid 0.7038 0.5955 0.8280 0.6545 0.9844 0.5719 0.6225 0.6818 0.8732 0.6392 0.6127 0.7721 0.63 0.9783 0.5833 0.6234 0.6442 het 971.45 86 2 17962518 . C T 971.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.161;DP=86;Dels=0.00;FS=12.930;HRun=0;HaplotypeScore=1.8924;MQ=58.65;MQ0=0;MQRankSum=0.213;QD=11.30;ReadPosRankSum=0.187;VQSLOD=4.4197;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,38:86:99:1001,0,1347 2 17998025 17998025 A T exonic MSGN1 nonsynonymous SNV MSGN1:NM_001105569:exon1:c.A240T:p.E80D 0.32 0.28 0.36 0.027 0.54 0.43 0.4610 0.3206 0.2767 0.0200 0.4269 0.5692 0.4933 0.4787 0.51 0.35 0.58 0.39 0.52 rs34069439 COSM4133319 1(thyroid) . . . . . . . . . . . 0.938 0.022 T 0.0 0.026 B 0.0 0.013 B 0.198 0.167 N 1 0.090 P -1.59 0.004 N 2.35 0.162 T -0.35 0.129 N 0.031 0.012 -0.971 0.371 T 0.000 0.000 T . . . -1.641 0.014 0.002 0.059 0.000 0.001 0.005 N c -1.358 -1.261 0.998 0.365 0.554 0.283 0 2.33 0.279 -0.459 0.068 -0.257 0.089 0.020 0.195 0.002 0.062 0.890 0.012 . ENSG00000178295.10 Muscle_Skeletal 0.4576 0.3137 0.2938 0.6371 0.0201 0.4396 0.5738 0.4963 0.4814 0.4409 0.3092 0.3565 0.5960 0.0253 0.4244 0.5663 0.4703 het 891.26 71 2 17998025 . A T 891.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.225;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7214;MQ=59.08;MQ0=0;MQRankSum=0.778;QD=12.55;ReadPosRankSum=-1.412;VQSLOD=5.9803;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,33:71:99:921,0,1235 2 17998095 17998095 C T exonic MSGN1 nonsynonymous SNV MSGN1:NM_001105569:exon1:c.C310T:p.H104Y 0.3 0.19 0.34 0.028 0.54 0.43 0.4553 0.2470 0.2740 0.0221 0.4294 0.5692 0.4944 0.4790 0.47 0.25 0.57 0.37 0.54 rs35858730 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.014 0.287 N 1 0.090 P -2.045 0.002 N 2.35 0.162 T 0.82 0.018 N 0.046 0.026 -0.970 0.372 T 0.000 0.000 T . . . -1.884 0.010 0.002 0.273 0.013 0.006 0.027 N c -1.214 -1.042 1.000 0.480 0.497 0.185 0 5.77 0.910 1.259 0.323 0.154 0.240 0.002 0.151 0.050 0.164 8.870 0.343 . . . 0.4527 0.2397 0.2899 0.6368 0.0218 0.4408 0.5736 0.4931 0.4818 0.4207 0.2382 0.3529 0.5967 0.0260 0.4253 0.5658 0.4703 het 903.44 60 2 17998095 . C T 903.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.872;DP=60;Dels=0.00;FS=2.286;HRun=0;HaplotypeScore=1.7882;MQ=58.84;MQ0=0;MQRankSum=-0.142;QD=15.06;ReadPosRankSum=-0.291;VQSLOD=6.0247;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,34:60:99:933,0,724 2 17998331 17998331 T C exonic MSGN1 synonymous SNV MSGN1:NM_001105569:exon1:c.T546C:p.L182L 0.29 0.2 0.35 0.028 0.54 0.4 0.4497 0.2602 0.2762 0.0219 0.4273 0.5657 0.4809 0.4452 0.47 0.26 0.57 0.37 0.57 rs13001625 COSM4001435 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4461 0.2487 0.2915 0.6336 0.0218 0.4402 0.5686 0.4875 0.4455 0.4204 0.2460 0.3525 0.5861 0.0253 0.4244 0.5613 0.4673 het 1735.26 104 2 17998331 . T C 1735.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.360;DP=104;Dels=0.00;FS=5.309;HRun=0;HaplotypeScore=2.8304;MQ=60.00;MQ0=0;MQRankSum=0.832;QD=16.69;ReadPosRankSum=1.419;VQSLOD=4.5567;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,61:104:99:1765,0,1089 2 18112473 18112473 G A exonic KCNS3 synonymous SNV KCNS3:NM_001282428:exon3:c.G198A:p.E66E,KCNS3:NM_002252:exon3:c.G198A:p.E66E 0.94 0.81 0.98 1. 0.97 0.99 0.9629 0.8407 0.9817 1 0.9776 0.9664 0.9692 0.9869 0.93 0.85 0.97 0.95 0.97 rs4240213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9667 0.8389 0.9799 0.9547 0.9999 0.9786 0.9680 0.9703 0.9867 0.9350 0.8418 0.9702 0.9536 1 0.9788 0.9678 0.9633 hom 5425.47 159 2 18112473 . G A 5425.47 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9940;MQ=58.80;MQ0=0;QD=34.12;VQSLOD=9.6736;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5425,433,0 2 18113508 18113508 G A exonic KCNS3 synonymous SNV KCNS3:NM_001282428:exon3:c.G1233A:p.K411K,KCNS3:NM_002252:exon3:c.G1233A:p.K411K 0.36 0.33 0.38 0.47 0.16 0.45 0.2614 0.2960 0.4857 0.4569 0.2412 0.1662 0.2754 0.3727 0.2 0.29 0.16 0.35 0.12 rs3747516 COSM3757831 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2660 0.3030 0.4607 0.2071 0.4511 0.2381 0.1579 0.2343 0.3678 0.2250 0.2994 0.3900 0.2351 0.4382 0.2275 0.1485 0.2341 het 1175.87 147 2 18113508 . G A 1175.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.240;DP=147;Dels=0.00;FS=5.357;HRun=2;HaplotypeScore=4.3575;MQ=59.43;MQ0=0;MQRankSum=-0.588;QD=8.00;ReadPosRankSum=1.235;VQSLOD=4.0390;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,51:147:99:1206,0,2706 2 18113623 18113623 A G exonic KCNS3 nonsynonymous SNV KCNS3:NM_001282428:exon3:c.A1348G:p.T450A,KCNS3:NM_002252:exon3:c.A1348G:p.T450A 0.8 0.74 0.81 0.98 0.61 0.87 0.7120 0.7244 0.8602 0.9794 0.6291 0.6312 0.7247 0.8195 0.67 0.72 0.64 0.79 0.57 rs4832524 COSM3757832 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.018 0.275 N 1.000 0.194 P -0.69 0.019 N -4.14 0.968 D 0.48 0.030 N 0.008 0.000 -0.934 0.435 T 0.000 0.000 T . . . -0.497 0.056 0.224 0.210 0.008 0.662 0.327 D c -0.751 -0.493 0.002 0.089 0.706 0.609 0 3.9 0.441 3.633 0.538 0.138 0.222 1.000 0.715 0.926 0.400 5.325 0.151 . . . 0.7161 0.7271 0.8485 0.6851 0.9802 0.6350 0.6253 0.7018 0.8185 0.6713 0.7189 0.7864 0.6656 0.9765 0.6397 0.6109 0.6828 het 1937.38 168 2 18113623 . A G 1937.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.227;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4596;MQ=59.64;MQ0=0;MQRankSum=0.712;QD=11.53;ReadPosRankSum=-1.540;VQSLOD=5.9149;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,75:168:99:1967,0,2414 2 18757501 18757501 G C exonic NT5C1B;NT5C1B-RDH14 synonymous SNV NT5C1B-RDH14:NM_001199103:exon8:c.C1284G:p.L428L,NT5C1B:NM_033253:exon8:c.C1278G:p.L426L,NT5C1B:NM_001002006:exon9:c.C1458G:p.L486L,NT5C1B:NM_001199086:exon9:c.C1407G:p.L469L,NT5C1B:NM_001199087:exon9:c.C1509G:p.L503L,NT5C1B:NM_001199088:exon9:c.C1464G:p.L488L,NT5C1B-RDH14:NM_001199104:exon9:c.C1458G:p.L486L 0.31 0.66 0.31 0.11 0.19 0.18 0.2491 0.6122 0.2922 0.0920 0.1960 0.2149 0.2494 0.2320 0.34 0.59 0.21 0.4 0.21 rs3902946 COSM3933488 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2444 0.6194 0.2930 0.2586 0.0934 0.1983 0.2116 0.2420 0.2379 0.3234 0.6189 0.2758 0.2748 0.0893 0.2022 0.2157 0.2127 het 869.43 67 2 18757501 . G C 869.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.500;DP=67;Dels=0.00;FS=6.708;HRun=1;HaplotypeScore=0.0000;MQ=58.58;MQ0=0;MQRankSum=1.487;QD=12.98;ReadPosRankSum=-0.910;VQSLOD=4.0841;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,35:67:99:899,0,762 2 18768850 18768850 A G exonic NT5C1B;NT5C1B-RDH14 synonymous SNV NT5C1B:NM_001002006:exon2:c.T39C:p.P13P,NT5C1B:NM_001199086:exon2:c.T39C:p.P13P,NT5C1B:NM_001199087:exon2:c.T39C:p.P13P,NT5C1B:NM_001199088:exon2:c.T39C:p.P13P,NT5C1B-RDH14:NM_001199103:exon2:c.T39C:p.P13P,NT5C1B-RDH14:NM_001199104:exon2:c.T39C:p.P13P,NT5C1B:NM_033253:exon2:c.T39C:p.P13P 0.32 0.66 0.32 0.12 0.2 0.18 0.2499 0.6128 0.2942 0.0930 0.1955 0.2154 0.2522 0.2333 0.34 0.59 0.21 0.4 0.25 rs16985306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2465 0.6199 0.2984 0.2600 0.0952 0.1982 0.2128 0.2455 0.2414 0.3233 0.6178 0.2780 0.2748 0.0919 0.2023 0.2161 0.2137 het 1652.44 150 2 18768850 . A G 1652.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.784;DP=150;Dels=0.00;FS=3.331;HRun=2;HaplotypeScore=2.5291;MQ=59.07;MQ0=0;MQRankSum=-0.377;QD=11.02;ReadPosRankSum=-0.709;VQSLOD=6.1641;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,69:150:99:1682,0,2211 2 20133221 20133221 C T exonic WDR35 nonsynonymous SNV WDR35:NM_020779:exon22:c.G2599A:p.A867T,WDR35:NM_001006657:exon23:c.G2632A:p.A878T 0.042 0.044 0.04 0.03 0.067 0.028 0.0545 0.0420 0.0265 0.0312 0.0533 0.0697 0.0497 0.0331 0.065 0.037 0.079 0.076 0.066 rs2293669 . . Likely benign|Likely benign Short_Rib_Polydactyly_Syndrome|Cranioectodermal_dysplasia RCV000265624.1|RCV000318447.1 MedGen|MedGen:SNOMED_CT C0036996|CN119432:254093009 . . . . . . 0.06 0.373 T 0.36 0.568 B 0.161 0.500 B 0.000 0.843 D 1 0.810 D 2.78 0.814 M 1.88 0.239 T -2.83 0.597 D 0.273 0.331 -1.148 0.011 T 0.009 0.032 T . . . 5.963 0.819 27.7 0.999 0.969 0.935 0.581 D c 0.376 0.398 1.0 0.983 0.732 0.924 0 5.29 0.743 5.722 0.679 0.935 0.490 1.000 0.715 0.994 0.587 18.270 0.900 . ENSG00000132031.8|ENSG00000132031.8|ENSG00000132031.8|ENSG00000132031.8 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Muscularis|Nerve_Tibial 0.0527 0.0399 0.0267 0.0481 0.0321 0.0521 0.0721 0.0507 0.0307 0.0532 0.0411 0.0274 0.0430 0.0315 0.0550 0.0637 0.0540 het 1432.21 102 2 20133221 . C T 1432.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.583;DP=102;Dels=0.00;FS=5.004;HRun=0;HaplotypeScore=0.0000;MQ=58.44;MQ0=0;MQRankSum=0.710;QD=14.04;ReadPosRankSum=-1.133;VQSLOD=4.7923;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,61:102:99:1462,0,1093 2 20240668 20240668 C A exonic LAPTM4A synonymous SNV LAPTM4A:NM_014713:exon2:c.G216T:p.S72S 0.17 0.014 0.2 0.31 0.17 0.21 0.1894 0.0400 0.1773 0.2906 0.2854 0.1904 0.1854 0.1965 0.14 0.05 0.19 0.098 0.2 rs3731673 COSM4001467 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1950 0.0372 0.1899 0.0939 0.3036 0.2825 0.1947 0.1742 0.1921 0.1739 0.0421 0.2100 0.0960 0.3335 0.2894 0.2024 0.2301 het 1556.53 143 2 20240668 . C A 1556.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.033;DP=143;Dels=0.00;FS=0.671;HRun=1;HaplotypeScore=1.9552;MQ=59.68;MQ0=0;MQRankSum=-0.969;QD=10.88;ReadPosRankSum=0.689;VQSLOD=6.3285;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,63:143:99:1587,0,2016 2 20403794 20403794 A T exonic SDC1 nonsynonymous SNV SDC1:NM_002997:exon3:c.T407A:p.L136Q,SDC1:NM_001006946:exon4:c.T407A:p.L136Q 0.97 0.88 0.99 1. 1. 1. 0.9902 0.8920 0.9959 1 1 0.9998 0.9989 0.9999 0.96 0.9 1. 0.95 0.97 rs10205485 . . . . . . . . . . . . . 0.676 0.056 T 0.0 0.026 B 0.0 0.013 B 0.986 0.079 N 1 0.090 P -1.1 0.010 N 2.25 0.309 T 1.52 0.007 N 0.009 0.343 -0.991 0.323 T 0.000 0.000 T . . . -0.590 0.050 0.132 0.766 0.112 0.006 0.027 N c -1.612 -1.590 1.000 0.489 0.706 0.609 0 -1.31 0.087 -0.542 0.061 -0.511 0.051 0.000 0.063 0.178 0.212 4.529 0.113 . . . 0.9924 0.8917 0.9955 1 1 1 0.9997 0.9956 0.9998 0.9717 0.9002 0.9976 1 1 1 0.9998 0.9980 hom 3716.28 113 2 20403794 . A T 3716.28 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4160;MQ=58.76;MQ0=0;QD=32.89;VQSLOD=5.8642;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3716,292,0 2 20403949 20403949 C T exonic SDC1 synonymous SNV SDC1:NM_002997:exon3:c.G252A:p.E84E,SDC1:NM_001006946:exon4:c.G252A:p.E84E 0.17 0.15 0.24 0.084 0.26 0.16 0.2242 0.1772 0.2144 0.1050 0.2762 0.2541 0.2478 0.1791 0.23 0.17 0.27 0.22 0.11 rs2230924 COSM3749628 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2257 0.1677 0.2095 0.3116 0.1044 0.2751 0.2550 0.2509 0.1808 0.2203 0.1702 0.2151 0.3013 0.0952 0.2552 0.2544 0.2076 het 1974.92 174 2 20403949 . C T 1974.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.546;DP=174;Dels=0.00;FS=2.965;HRun=1;HaplotypeScore=5.7207;MQ=58.80;MQ0=0;MQRankSum=0.331;QD=11.35;ReadPosRankSum=-0.455;VQSLOD=4.8722;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,77:174:99:2005,0,2574 2 20818764 20818764 C T exonic HS1BP3 nonsynonymous SNV HS1BP3:NM_022460:exon7:c.G1162A:p.A388T 0.15 0.12 0.14 0.091 0.2 0.19 0.1856 0.1339 0.1375 0.0893 0.1864 0.2087 0.1941 0.2097 0.18 0.14 0.21 0.14 0.18 rs3732149 COSM3757916 1(large_intestine) . . . . . . . . . . . 0.653 0.048 T 0.008 0.135 B 0.003 0.080 B 0.616 0.108 N 1 0.090 P 0.485 0.132 N 2.09 0.201 T 0.02 0.068 N 0.012 0.001 -0.949 0.412 T 0.000 0.000 T . . . -0.728 0.044 0.062 0.659 0.077 0.027 0.072 N c -1.420 -1.458 1.000 0.517 0.615 0.372 0 -1.71 0.077 -1.544 0.023 -2.661 0.002 0.000 0.063 0.001 0.043 5.725 0.172 . . . 0.1832 0.1319 0.1417 0.1844 0.0901 0.1805 0.2125 0.1711 0.2044 0.1699 0.1303 0.1444 0.1821 0.0852 0.1737 0.2023 0.1742 het 823.38 77 2 20818764 . C T 823.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.901;DP=77;Dels=0.00;FS=10.718;HRun=0;HaplotypeScore=2.9821;MQ=59.70;MQ0=0;MQRankSum=-1.574;QD=10.69;ReadPosRankSum=0.887;VQSLOD=3.6678;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,38:77:99:853,0,853 2 20823724 20823724 T C exonic HS1BP3 synonymous SNV HS1BP3:NM_022460:exon6:c.A852G:p.P284P 1. 0.99 1. 1. 1. 1. 0.9984 0.9829 0.9991 0.9999 1 1.0000 0.9989 0.9999 0.99 0.98 1. 1. 0.79 rs6531248 COSM4133403 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9833 0.9994 0.9999 0.9998 1 1.0000 0.9996 0.9999 0.9954 0.9839 0.9988 1 1 1 1 0.9990 hom 1021.57 35 2 20823724 . T C 1021.57 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.19;VQSLOD=13.1614;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:87.25:1055,87,0 2 20824498 20824498 C T exonic HS1BP3 nonsynonymous SNV HS1BP3:NM_022460:exon5:c.G778A:p.V260M 0.38 0.31 0.41 0.27 0.57 0.37 0.4873 0.3320 0.3889 0.2770 0.5232 0.5671 0.4718 0.4244 0.5 0.33 0.58 0.32 0.61 rs2305458 COSM4133404 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid) . . . . . . . . . . . 0.115 0.285 T 0.004 0.112 B 0.002 0.063 B 0.001 0.007 N 1 0.090 P -0.345 0.033 N 2.28 0.307 T 0.1 0.073 N 0.035 0.267 -0.977 0.358 T 0.000 0.000 T . . . -0.389 0.062 0.412 0.768 0.112 0.001 0.004 N c -2.282 -2.338 1.000 0.747 0.706 0.609 0 -8.76 0.007 -2.324 0.012 -0.721 0.036 0.000 0.063 0.000 0.016 5.935 0.183 . ENSG00000118960.8 Adipose_Subcutaneous 0.4856 0.3257 0.4012 0.5375 0.2794 0.5213 0.5736 0.5081 0.4009 0.4672 0.3258 0.4010 0.5364 0.2670 0.5149 0.5602 0.4938 het 1201.09 90 2 20824498 . C T 1201.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.063;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;MQRankSum=-0.699;QD=13.35;ReadPosRankSum=-0.459;VQSLOD=6.8796;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,50:90:99:1231,0,988 2 20824559 20824559 C T exonic HS1BP3 synonymous SNV HS1BP3:NM_022460:exon5:c.G717A:p.E239E 0.28 0.033 0.37 0.49 0.26 0.33 0.2916 0.0619 0.3850 0.4979 0.3178 0.2709 0.3040 0.3347 0.2 0.074 0.26 0.34 0.13 rs2305457 COSM4133405 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3003 0.0566 0.3825 0.3405 0.4956 0.3169 0.2631 0.3092 0.3318 0.2330 0.0678 0.3854 0.3079 0.4950 0.3248 0.2643 0.3111 het 811.99 80 2 20824559 . C T 811.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.870;DP=80;Dels=0.00;FS=3.116;HRun=1;HaplotypeScore=1.6647;MQ=59.71;MQ0=0;MQRankSum=0.939;QD=10.15;ReadPosRankSum=0.015;VQSLOD=6.4897;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,30:80:99:842,0,1440 2 20838222 20838222 C T exonic HS1BP3 synonymous SNV HS1BP3:NM_022460:exon4:c.G597A:p.E199E 0.14 0.098 0.13 0.096 0.19 0.18 0.1723 0.1111 0.1298 0.0900 0.1689 0.1953 0.1744 0.1919 0.17 0.12 0.2 0.13 0.18 rs3796065 COSM3757917 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1719 0.1093 0.1343 0.1875 0.0911 0.1657 0.1994 0.1609 0.1915 0.1557 0.1088 0.1408 0.1821 0.0832 0.1518 0.1916 0.1643 het 1057.05 91 2 20838222 . C T 1057.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.185;DP=91;Dels=0.00;FS=1.794;HRun=1;HaplotypeScore=2.8888;MQ=58.52;MQ0=0;MQRankSum=-0.267;QD=11.62;ReadPosRankSum=1.137;VQSLOD=5.5603;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,45:91:99:1087,0,1169 2 20838318 20838318 G A exonic HS1BP3 synonymous SNV HS1BP3:NM_022460:exon4:c.C501T:p.F167F 0.36 0.23 0.31 0.56 0.28 0.45 0.3160 0.2230 0.3005 0.5572 0.2892 0.2722 0.3282 0.4465 0.25 0.22 0.26 0.37 0.14 rs3796064 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3171 0.2227 0.3101 0.3035 0.5521 0.2894 0.2690 0.3131 0.4397 0.2813 0.2330 0.3210 0.3079 0.5426 0.3017 0.2711 0.3198 het 1133.29 87 2 20838318 . G A 1133.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.748;DP=87;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.5442;MQ=59.09;MQ0=0;MQRankSum=0.429;QD=13.03;ReadPosRankSum=1.363;VQSLOD=6.3995;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,44:87:99:1163,0,1143 2 20974586 20974586 C T exonic LDAH nonsynonymous SNV LDAH:NM_001282722:exon2:c.G62A:p.R21Q,LDAH:NM_001282719:exon3:c.G326A:p.R109Q,LDAH:NM_001282720:exon3:c.G308A:p.R103Q,LDAH:NM_001282721:exon3:c.G62A:p.R21Q,LDAH:NM_001282724:exon3:c.G326A:p.R109Q,LDAH:NM_001282723:exon4:c.G452A:p.R151Q,LDAH:NM_021925:exon4:c.G452A:p.R151Q 0.004 0.0008 0.0043 . 0.016 . 0.0088 0.0020 0.0019 0.0001 0.0281 0.0124 0.0077 0 0.0062 0.0023 0.0083 . 0.0082 rs114010802 . . . . . . . . . . . . . 0.054 0.424 T 0.857 0.453 P 0.176 0.357 B 0.176 0.172 N 0.999 0.237 N 1.93 0.516 L 0.86 0.717 T -1.26 0.471 N 0.066 0.206 -0.927 0.445 T 0.091 0.349 T . . . 1.487 0.241 13.25 0.972 0.324 0.053 0.111 N c -1.041 -1.201 0.001 0.082 0.707 0.730 0 -5.05 0.027 -0.341 0.078 -0.537 0.048 0.000 0.063 0.020 0.134 5.737 0.172 Alpha/Beta hydrolase fold . . 0.0085 0.0022 0.0028 0.0003 5.798e-05 0.0269 0.0120 0.0064 0.0001 0.0092 0.0027 0.0036 0 0 0.0235 0.0110 0.0102 het 2476.83 225 2 20974586 . C T 2476.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.678;DP=225;Dels=0.00;FS=5.551;HRun=1;HaplotypeScore=7.2651;MQ=58.83;MQ0=0;MQRankSum=0.332;QD=11.01;ReadPosRankSum=-1.258;VQSLOD=4.1284;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:126,99:225:99:2507,0,3125 2 21225281 21225281 C T exonic APOB nonsynonymous SNV APOB:NM_000384:exon29:c.G13013A:p.S4338N 0.63 0.88 0.75 0.28 0.78 0.42 0.7057 0.8460 0.7270 0.2804 0.7312 0.7867 0.7092 0.4878 0.8 0.84 0.78 0.75 0.61 rs1042034 COSM4001491 2(haematopoietic_and_lymphoid_tissue);1(pancreas) other|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000116382.4|RCV000256262.2|RCV000284555.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 Triglycerides . -5.99 20686565 rs1042034 1E-45 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.669 0.060 N 1 0.090 P -2.005 0.002 N 1.25 0.365 T 1.2 0.011 N 0.006 0.002 -0.975 0.362 T 0.000 0.000 T . . . -1.281 0.023 0.005 0.149 0.003 0.015 0.050 N c -1.583 -1.462 0.899 0.260 0.487 0.133 0 1.61 0.226 0.587 0.234 -0.000 0.135 0.003 0.159 0.002 0.062 5.789 0.175 Armadillo-type fold . . 0.7055 0.8508 0.7406 0.8036 0.2733 0.7353 0.7852 0.7282 0.4861 0.7647 0.8537 0.7835 0.8576 0.2640 0.7441 0.7720 0.7118 hom 1101.37 33 2 21225281 . C T 1101.37 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=33.37;VQSLOD=9.3761;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:90.28:1134,90,0 2 21225753 21225753 C T exonic APOB nonsynonymous SNV APOB:NM_000384:exon29:c.G12541A:p.E4181K 0.13 0.16 0.12 0.045 0.21 0.087 0.1530 0.1567 0.1115 0.0502 0.2192 0.1793 0.1468 0.1006 0.17 0.15 0.18 0.13 0.15 rs1042031 COSM3746534 5(soft_tissue);1(liver) other|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000116381.4|RCV000256314.2|RCV000268700.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 . . . . . . 0.259 0.166 T 0.012 0.151 B 0.009 0.133 B 0.494 0.120 N 1 0.090 P 1.15 0.294 L 5.76 0.007 T -1.45 0.356 N 0.038 0.044 -0.988 0.331 T 0.000 0.000 T . . . -0.102 0.084 1.713 0.916 0.203 0.237 0.219 N c -1.135 -1.142 1.000 0.441 0.487 0.133 0 0.147 0.141 -0.151 0.101 -0.404 0.062 0.000 0.063 0.040 0.157 5.434 0.157 . . . 0.1536 0.1544 0.1218 0.1477 0.0488 0.2107 0.1820 0.1629 0.1025 0.1698 0.1536 0.1615 0.1656 0.0392 0.2053 0.1862 0.1592 het 841.81 76 2 21225753 . C T 841.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.486;DP=76;Dels=0.00;FS=0.943;HRun=2;HaplotypeScore=0.9832;MQ=58.84;MQ0=0;MQRankSum=1.353;QD=11.08;ReadPosRankSum=0.275;VQSLOD=6.4612;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,31:76:99:872,0,1277 2 21232195 21232195 G A exonic APOB synonymous SNV APOB:NM_000384:exon26:c.C7545T:p.T2515T 0.25 0.21 0.38 0.061 0.44 0.22 0.3899 0.2245 0.3734 0.0535 0.3901 0.4926 0.4064 0.2661 0.41 0.25 0.5 0.32 0.48 rs693 COSM4133426 2(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Likely benign|Likely benign not_specified|Familial_hypobetalipoproteinemia|Familial_hypercholesterolemia RCV000116389.4|RCV000274903.1|RCV000388049.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT:SNOMED_CT CN169374|C1862596:ORPHA426:60193003|C0020445:143890:397915002:398036000 Triglycerides . . 17463246 rs693 7E-7 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3893 0.2166 0.3800 0.3469 0.0571 0.4038 0.5010 0.4048 0.2670 0.3797 0.2297 0.3911 0.42 0.0484 0.4109 0.4908 0.4296 het 724.02 87 2 21232195 . G A 724.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.138;DP=87;Dels=0.00;FS=0.852;HRun=0;HaplotypeScore=0.9989;MQ=59.04;MQ0=0;MQRankSum=0.717;QD=8.32;ReadPosRankSum=-0.744;VQSLOD=6.2970;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,32:87:99:754,0,1563 2 21232803 21232803 T C exonic APOB nonsynonymous SNV APOB:NM_000384:exon26:c.A6937G:p.I2313V 0.99 0.95 1. 1. 1. 1. 0.9950 0.9486 0.9976 0.9994 1 0.9996 0.9956 0.9997 0.98 0.95 1. 0.69 0.99 rs584542 . . Benign|Benign Hypercholesterolemia\x2c_autosomal_dominant\x2c_type_B|Hypobetalipoproteinemia\x2c_familial\x2c_1 RCV000475274.1|RCV000475274.1 MedGen:OMIM|MedGen:OMIM C1704417:144010|CN182502:615558 . . . . . . 0.626 0.052 T 0.002 0.090 B 0.003 0.080 B 0.262 0.153 N 1 0.090 P 1.465 0.370 L 5.78 0.007 T -0.11 0.087 N 0.009 0.054 -0.985 0.339 T 0.000 0.000 T . . . -4.107 0.000 0.001 0.195 0.007 0.166 0.193 N c -1.960 -1.976 1.000 0.517 0.487 0.133 0 -3.8 0.040 -0.238 0.089 -1.573 0.009 0.000 0.063 0.005 0.090 5.845 0.178 . . . 0.9959 0.9467 0.9971 0.9999 0.9991 1 0.9995 0.9980 0.9995 0.9842 0.9457 0.9976 1 0.9981 1 0.9996 0.9969 hom 2978.37 93 2 21232803 . T C 2978.37 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8317;MQ=59.30;MQ0=0;QD=32.03;VQSLOD=9.0978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3011,244,0 2 21232804 21232804 G A exonic APOB synonymous SNV APOB:NM_000384:exon26:c.C6936T:p.D2312D 0.25 0.21 0.38 0.061 0.44 0.21 0.3891 0.2244 0.3735 0.0533 0.3897 0.4929 0.4073 0.2595 0.4 0.23 0.48 . 0.48 rs1041968 COSM3933524 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) other|Likely benign|Likely benign not_specified|Familial_hypobetalipoproteinemia|Familial_hypercholesterolemia RCV000116388.4|RCV000283635.1|RCV000392137.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT:SNOMED_CT CN169374|C1862596:ORPHA426:60193003|C0020445:143890:397915002:398036000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3886 0.2165 0.3797 0.3469 0.0567 0.4038 0.5014 0.4054 0.2614 0.3800 0.2301 0.3909 0.4238 0.0484 0.4110 0.4909 0.4283 het 1099.43 90 2 21232804 . G A 1099.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.527;DP=90;Dels=0.00;FS=2.819;HRun=0;HaplotypeScore=1.8317;MQ=59.27;MQ0=0;MQRankSum=0.323;QD=12.22;ReadPosRankSum=0.113;VQSLOD=6.4941;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,43:90:99:1129,0,1270 2 21235475 21235475 T C exonic APOB nonsynonymous SNV APOB:NM_000384:exon26:c.A4265G:p.Y1422C 1. 1. 1. 1. 1. 1. 0.9999 0.9999 0.9998 1 1 0.9998 1 1 1. 1. 1. 1. 1. rs568413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9998 0.9999 0.9999 1 1 0.9998 0.9998 0.9999 0.9997 0.9997 1 1 1 1 0.9997 0.9990 hom 2570.69 83 2 21235475 . T C 2570.69 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=30.97;VQSLOD=9.0435;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:83:99:2604,199,0 2 21249716 21249716 C T exonic APOB nonsynonymous SNV APOB:NM_000384:exon15:c.G2188A:p.V730I 0.014 0.0008 0.022 . 0.054 0.001 0.0250 0.0060 0.0168 0 0.0413 0.0364 0.0243 0.0035 0.025 0.0066 0.035 0.011 0.016 rs12691202 . . other|other|Benign|Benign not_specified|Familial_hypercholesterolemia|Hypercholesterolemia\x2c_autosomal_dominant\x2c_type_B|Hypobetalipoproteinemia\x2c_familial\x2c_1 RCV000116385.4|RCV000202719.2|RCV000470775.1|RCV000470775.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:OMIM|MedGen:OMIM CN169374|C0020445:143890:397915002:398036000|C1704417:144010|CN182502:615558 . . . . . . 0.157 0.240 T 0.568 0.366 P 0.214 0.358 B 0.009 0.305 N 0.982 0.398 D 2.34 0.674 M 2.16 0.192 T -0.42 0.158 N 0.022 0.040 -1.135 0.015 T 0.013 0.051 T . . . 2.633 0.378 20.4 0.995 0.699 0.947 0.619 D c 0.146 0.169 1.000 0.473 0.554 0.246 0 3.89 0.439 1.039 0.297 0.935 0.490 0.515 0.268 0.989 0.536 12.403 0.546 Lipid transport protein\x2c beta-sheet shell|Vitellinogen\x2c open beta-sheet . . 0.0271 0.0055 0.0238 0.0505 0 0.0473 0.0356 0.0290 0.0039 0.0247 0.0054 0.0382 0.0662 0.0006 0.0458 0.0313 0.0346 het 1321.94 118 2 21249716 . C T 1321.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.939;DP=118;Dels=0.00;FS=0.693;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=0.889;QD=11.20;ReadPosRankSum=-1.477;VQSLOD=5.8008;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,54:118:99:1352,0,1704 2 21250914 21250914 G A exonic APOB nonsynonymous SNV APOB:NM_000384:exon14:c.C1853T:p.A618V 0.48 0.13 0.39 0.86 0.47 0.65 0.4857 0.1672 0.3944 0.8565 0.5710 0.4628 0.4956 0.6130 0.37 0.18 0.46 0.4 0.44 rs679899 . . other|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000116384.4|RCV000256290.2|RCV000295735.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 . . . . . . 0.005 0.632 D 1.0 0.899 D 0.998 0.875 D 0.000 0.537 D 0.000 0.548 P 2.695 0.791 M -0.62 0.719 T -1.96 0.609 N 0.351 0.782 -0.928 0.445 T 0.000 0.000 T . . . 5.620 0.765 26.6 0.999 0.978 0.972 0.733 D c 0.802 0.794 1.000 0.747 0.497 0.185 0 5.73 0.897 6.746 0.745 1.048 0.713 1.000 0.715 0.712 0.312 20.289 0.985 Lipid transport protein\x2c N-terminal|Vitellinogen\x2c superhelical . . 0.4902 0.1640 0.3951 0.3776 0.8512 0.5678 0.4691 0.4704 0.6140 0.4190 0.1710 0.3926 0.3576 0.8424 0.5479 0.4846 0.5061 hom 5117.90 173 2 21250914 . G A 5117.90 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.13;MQ0=0;QD=29.58;VQSLOD=9.0297;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:173:99:5117,406,0 2 24108652 24108652 T C exonic ATAD2B nonsynonymous SNV ATAD2B:NM_001242338:exon5:c.A620G:p.Q207R,ATAD2B:NM_017552:exon5:c.A620G:p.Q207R 1. 1. 1. 1. 1. 1. 0.9998 0.9982 1 1 1 1 1 1 1. 1. 1. 1. . rs7579201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9985 1 1 1 1 1 0.9996 1 0.9995 0.9981 1 1 1 1 1 1 hom 842.85 30 2 24108652 . T C 842.85 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=28.10;VQSLOD=7.9318;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:69.20:876,69,0 2 24905927 24905927 G C exonic NCOA1 synonymous SNV NCOA1:NM_003743:exon6:c.G462C:p.T154T,NCOA1:NM_147223:exon6:c.G462C:p.T154T,NCOA1:NM_147233:exon6:c.G462C:p.T154T 0.81 0.52 0.91 1. 0.9 0.83 0.8689 0.5656 0.9495 0.9929 0.9099 0.8914 0.8987 0.8284 0.79 0.57 0.9 0.76 0.87 rs11125744 COSM4133739;COSM4133740 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8801 0.5587 0.9423 0.9115 0.9936 0.9094 0.8927 0.8978 0.8288 0.8160 0.5729 0.9306 0.9040 0.9957 0.9123 0.9034 0.8724 hom 2237.02 73 2 24905927 . G C 2237.02 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=58.24;MQ0=0;QD=30.64;VQSLOD=8.2031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:73:99:2270,175,0 2 24974945 24974945 T G exonic NCOA1 synonymous SNV NCOA1:NM_003743:exon18:c.T3801G:p.L1267L,NCOA1:NM_147223:exon18:c.T3801G:p.L1267L,NCOA1:NM_147233:exon18:c.T3801G:p.L1267L 0.84 0.63 0.92 1. 0.9 0.83 0.8784 0.6562 0.9550 0.9930 0.9100 0.8921 0.9053 0.8354 0.82 0.67 0.9 0.81 0.89 rs11125763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8887 0.6568 0.9480 0.9120 0.9935 0.9093 0.8935 0.9063 0.8377 0.8444 0.6732 0.9368 0.9040 0.9957 0.9118 0.9033 0.8763 hom 3572.71 110 2 24974945 . T G 3572.71 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.41;MQ0=0;QD=32.48;VQSLOD=9.8838;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3572,271,0 2 25022598 25022598 A G exonic CENPO nonsynonymous SNV CENPO:NM_001199803:exon2:c.A83G:p.Q28R,CENPO:NM_001322101:exon3:c.A101G:p.Q34R,CENPO:NM_024322:exon3:c.A101G:p.Q34R 0.13 0.11 0.11 0.21 0.15 0.086 0.1321 0.1023 0.0889 0.2174 0.1444 0.1390 0.1399 0.1033 0.14 0.11 0.15 0.15 0.16 rs1550116 . . . . . . . . . . . . . 0.466 0.086 T 0.0 0.026 B 0.0 0.013 B 0.717 0.100 N 1 0.090 P -1.24 0.008 N 0.92 0.445 T 0.25 0.045 N 0.007 0.000 -1.010 0.269 T 0.000 0.000 T . . . -2.402 0.004 0.001 0.195 0.007 0.017 0.053 N c -1.518 -1.537 0.922 0.267 0.719 0.830 0 -3.63 0.042 0.362 0.199 -0.129 0.111 0.000 0.063 0.008 0.104 6.535 0.214 . ENSG00000084676.11|ENSG00000138031.10 Thyroid|Whole_Blood 0.1341 0.0968 0.0962 0.1185 0.2154 0.1468 0.1447 0.1353 0.1058 0.1301 0.1000 0.0839 0.0695 0.2098 0.1476 0.1381 0.1388 het 1174.93 97 2 25022598 . A G 1174.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.857;DP=97;Dels=0.00;FS=3.862;HRun=1;HaplotypeScore=0.0000;MQ=59.76;MQ0=0;MQRankSum=-1.371;QD=12.11;ReadPosRankSum=-2.952;VQSLOD=4.4017;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,45:97:99:1205,0,1529 2 25046090 25046090 T C exonic ADCY3 synonymous SNV ADCY3:NM_001320613:exon18:c.A2874G:p.S958S,ADCY3:NM_004036:exon18:c.A2871G:p.S957S 0.69 0.53 0.77 0.88 0.67 0.69 0.6808 0.5345 0.8634 0.8577 0.6552 0.6530 0.7086 0.6738 0.63 0.55 0.67 0.63 0.63 rs1127568 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6939 0.5326 0.8489 0.6600 0.8535 0.6589 0.6599 0.7018 0.6744 0.6390 0.5317 0.8126 0.6722 0.875 0.6434 0.6640 0.6477 het 1328.38 88 2 25046090 . T C 1328.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.696;DP=88;Dels=0.00;FS=8.727;HRun=1;HaplotypeScore=0.8321;MQ=59.48;MQ0=0;MQRankSum=0.689;QD=15.10;ReadPosRankSum=-1.184;VQSLOD=4.5708;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,49:88:99:1358,0,1122 2 25050977 25050977 T C exonic ADCY3 synonymous SNV ADCY3:NM_001320613:exon14:c.A2226G:p.E742E,ADCY3:NM_004036:exon14:c.A2226G:p.E742E 0.66 0.41 0.77 0.88 0.67 0.68 0.6712 0.4250 0.8591 0.8567 0.6553 0.6536 0.7025 0.6727 0.59 0.44 0.67 0.6 0.53 rs7566416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6864 0.4186 0.8441 0.6428 0.8528 0.6587 0.6619 0.6986 0.6741 0.6075 0.4152 0.8086 0.6623 0.8725 0.6441 0.6674 0.6426 het 697.20 50 2 25050977 . T C 697.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.000;DP=50;Dels=0.00;FS=2.606;HRun=0;HaplotypeScore=8.8471;MQ=59.07;MQ0=0;MQRankSum=-0.126;QD=13.94;ReadPosRankSum=-0.204;VQSLOD=4.3016;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:24,26:50:99:727,0,667 2 25064157 25064157 G C exonic ADCY3 synonymous SNV ADCY3:NM_001320613:exon6:c.C1167G:p.L389L,ADCY3:NM_004036:exon6:c.C1167G:p.L389L 0.071 0.003 0.21 0.1 0.086 0.015 0.1068 0.0220 0.3937 0.1758 0.2015 0.1303 0.1281 0.0261 0.055 0.02 0.072 0.033 0.082 rs2241758 COSM3766566 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0929 0.0136 0.2626 0.0713 0.0888 0.0745 0.0743 0.0954 0.0222 0.0661 0.0195 0.2363 0.0430 0.0944 0.0842 0.0752 0.0920 het 134.16 12 2 25064157 . G C 134.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.779;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.63;MQ0=0;MQRankSum=-0.467;QD=11.18;ReadPosRankSum=-0.259;VQSLOD=5.9428;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:164,0,168 2 25141434 25141434 G A exonic ADCY3 synonymous SNV ADCY3:NM_001320613:exon2:c.C423T:p.Y141Y,ADCY3:NM_004036:exon2:c.C423T:p.Y141Y 0.1 0.22 0.086 0.045 0.084 0.03 0.0775 0.2082 0.0441 0.0353 0.0413 0.0830 0.0717 0.0328 0.13 0.21 0.091 0.076 0.17 rs61732745 COSM3758150 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0754 0.2144 0.0513 0.0692 0.0351 0.0438 0.0885 0.0772 0.0326 0.1177 0.2195 0.0561 0.0497 0.0383 0.0412 0.0918 0.0859 het 1536.72 117 2 25141434 . G A 1536.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.276;DP=117;Dels=0.00;FS=0.692;HRun=0;HaplotypeScore=2.7856;MQ=59.64;MQ0=0;MQRankSum=1.022;QD=13.13;ReadPosRankSum=0.935;VQSLOD=6.1138;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,59:117:99:1567,0,1583 2 25141538 25141538 A G exonic ADCY3 nonsynonymous SNV ADCY3:NM_001320613:exon2:c.T319C:p.S107P,ADCY3:NM_004036:exon2:c.T319C:p.S107P 0.57 0.91 0.39 0.43 0.46 0.47 0.4798 0.8526 0.3080 0.4337 0.4170 0.4634 0.4603 0.4813 0.6 0.84 0.47 0.56 0.56 rs11676272 COSM4133745 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.183 T 0.0 0.026 B 0.0 0.013 B 0.066 0.219 N 1 0.090 P 0 0.065 N -1.4 0.805 T 0.42 0.034 N 0.1 0.531 -0.994 0.315 T 0.000 0.000 T . . . -0.180 0.078 1.207 0.089 0.001 0.149 0.184 N c -0.982 -0.870 1.000 0.747 0.644 0.439 0 2.94 0.330 1.330 0.332 0.076 0.183 0.840 0.300 0.236 0.225 4.925 0.131 Adenylate cyclase\x2c N-terminal ENSG00000271936.1|ENSG00000138031.10|ENSG00000271936.1|ENSG00000138031.10|ENSG00000224165.1|ENSG00000271936.1|ENSG00000138031.10|ENSG00000224165.1|ENSG00000271936.1|ENSG00000138031.10|ENSG00000115137.7 Artery_Tibial|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Whole_Blood|Whole_Blood|Whole_Blood 0.4657 0.8600 0.3159 0.4044 0.4304 0.4262 0.4718 0.4415 0.4834 0.5615 0.8476 0.3266 0.3675 0.4095 0.4042 0.4697 0.4867 het 2178.38 154 2 25141538 . A G 2178.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.448;DP=154;Dels=0.00;FS=2.924;HRun=3;HaplotypeScore=2.7702;MQ=59.76;MQ0=0;MQRankSum=-1.026;QD=14.15;ReadPosRankSum=0.626;VQSLOD=6.0080;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,86:154:99:2208,0,1760 2 25194741 25194741 G A exonic DNAJC27 synonymous SNV DNAJC27:NM_001198559:exon1:c.C33T:p.P11P,DNAJC27:NM_016544:exon1:c.C33T:p.P11P 0.71 0.63 0.86 0.74 0.79 0.61 0.7508 0.6706 0.8456 0.7467 0.7538 0.7718 0.7690 0.6490 0.74 0.67 0.77 0.73 0.79 rs7593864 COSM1162609;COSM4133746 1(pancreas);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7522 0.6644 0.8475 0.8187 0.7319 0.7388 0.7663 0.7795 0.6355 0.7363 0.6547 0.8329 0.8411 0.7506 0.7580 0.7701 0.7270 hom 1449.35 51 2 25194741 . G A 1449.35 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.46;MQ0=0;QD=28.42;VQSLOD=8.1270;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1482,111,0 2 25655772 25655772 T C exonic DTNB synonymous SNV DTNB:NM_001320935:exon12:c.A828G:p.A276A,DTNB:NM_001351381:exon12:c.A909G:p.A303A,DTNB:NM_001351392:exon12:c.A909G:p.A303A,DTNB:NM_001351393:exon12:c.A909G:p.A303A,DTNB:NM_001256308:exon13:c.A1269G:p.A423A,DTNB:NM_001320932:exon13:c.A828G:p.A276A,DTNB:NM_001320933:exon13:c.A1350G:p.A450A,DTNB:NM_001320934:exon13:c.A1350G:p.A450A,DTNB:NM_001351382:exon13:c.A1350G:p.A450A,DTNB:NM_001351383:exon13:c.A1350G:p.A450A,DTNB:NM_001351385:exon13:c.A1350G:p.A450A,DTNB:NM_001351386:exon13:c.A1350G:p.A450A,DTNB:NM_001351387:exon13:c.A1350G:p.A450A,DTNB:NM_001351389:exon13:c.A1350G:p.A450A,DTNB:NM_001351390:exon13:c.A1350G:p.A450A,DTNB:NM_001351391:exon13:c.A1350G:p.A450A,DTNB:NM_033148:exon13:c.A1350G:p.A450A,DTNB:NM_183361:exon13:c.A1350G:p.A450A,DTNB:NM_001256303:exon14:c.A1440G:p.A480A,DTNB:NM_001256304:exon14:c.A1440G:p.A480A,DTNB:NM_001320936:exon14:c.A1440G:p.A480A,DTNB:NM_001351384:exon14:c.A1440G:p.A480A,DTNB:NM_001351388:exon14:c.A1440G:p.A480A,DTNB:NM_001351394:exon14:c.A1440G:p.A480A,DTNB:NM_021907:exon14:c.A1440G:p.A480A,DTNB:NM_033147:exon14:c.A1440G:p.A480A,DTNB:NM_183360:exon14:c.A1440G:p.A480A,DTNB:NM_001351395:exon15:c.A525G:p.A175A 0.24 0.33 0.21 0.005 0.35 0.27 0.3467 0.3856 0.2212 0.0086 0.3762 0.4038 0.3167 0.2859 0.33 0.32 0.33 0.22 . rs7583475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2693 0.3359 0.1409 0.2992 0.0025 0.3140 0.3392 0.2768 0.2437 0.3171 0.3357 0.1683 0.3411 0.0006 0.3203 0.3477 0.3139 het 370.02 20 2 25655772 . T C 370.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.475;DP=20;Dels=0.00;FS=5.379;HRun=1;HaplotypeScore=0.0000;MQ=56.68;MQ0=0;MQRankSum=0.317;QD=18.50;ReadPosRankSum=-0.158;VQSLOD=3.1079;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,13:20:99:400,0,178 2 26203678 26203678 T C exonic KIF3C nonsynonymous SNV KIF3C:NM_002254:exon1:c.A1109G:p.Q370R 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 0.9999 1 1 1. 1. 1. 1. 1. rs1465878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 0.9999 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 4649.25 147 2 26203678 . T C 4649.25 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=58.73;MQ0=0;QD=31.63;VQSLOD=9.7537;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4648,379,0 2 26477125 26477125 - ACT exonic HADHB nonframeshift insertion HADHB:NM_000183:exon2:c.3_4insACT:p.T2_I3insT,HADHB:NM_001281512:exon2:c.3_4insACT:p.T2_I3insT 0.71 0.88 0.68 0.18 0.92 0.83 0.8315 0.8789 0.6033 0.1803 0.9385 0.9339 0.8731 0.8447 0.91 0.88 0.93 0.011 . rs59947000 COSM4603193 19(upper_aerodigestive_tract);6(central_nervous_system) Benign|not provided|Benign not_specified|not_provided|Mitochondrial_trifunctional_protein_deficiency RCV000078340.5|RCV000144492.1|RCV000270663.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN221809|C0342786:609015:237999008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8217 0.8782 0.6167 0.9069 0.1769 0.9382 0.9356 0.8650 0.8457 0.8682 0.8718 0.6571 0.9272 0.1704 0.9358 0.9327 0.9173 hom 8679.95 144 2 26477125 . G GACT 8679.95 Mask AC=2;AF=1.00;AN=2;DP=144;FS=0.000;HRun=0;HaplotypeScore=407.0423;MQ=56.25;MQ0=0;QD=59.86;set=variant2 GT:AD:DP:GQ:PL 1/1:16,127:144:99:8680,398,0 2 26534801 26534801 G A exonic ADGRF3 nonsynonymous SNV ADGRF3:NM_153835:exon8:c.C1198T:p.H400Y,ADGRF3:NM_001145169:exon10:c.C1588T:p.H530Y,ADGRF3:NM_001321971:exon10:c.C1591T:p.H531Y,ADGRF3:NM_001145168:exon11:c.C1795T:p.H599Y,ADGRF3:NM_001321975:exon11:c.C604T:p.H202Y 0.67 0.62 0.72 0.75 0.7 0.59 0.6956 0.6349 0.7104 0.7858 0.7042 0.7109 0.6925 0.6113 0.68 0.63 0.71 0.62 . rs7568529 COSM4133755;COSM4133754 1(thyroid) . . . . . . . . . . . 0.079 0.337 T 0.008 0.151 B 0.071 0.265 B . . . 1 0.090 P 2.125 0.592 M 2.96 0.096 T -2.74 0.582 D 0.059 0.140 -0.968 0.377 T 0.000 0.000 T . . . 2.684 0.384 20.7 0.977 0.347 0.134 0.177 N c -0.430 -0.398 0.999 0.398 0.554 0.246 0 5.18 0.710 2.681 0.463 1.048 0.713 0.163 0.236 0.004 0.083 9.522 0.381 . ENSG00000173567.10|ENSG00000138018.13|ENSG00000173567.10|ENSG00000084754.6 Cells_Transformed_fibroblasts|Muscle_Skeletal|Pancreas|Testis 0.6968 0.6327 0.7104 0.6196 0.7856 0.7054 0.7147 0.6972 0.6189 0.6897 0.6284 0.7055 0.6093 0.7854 0.6968 0.7129 0.7086 hom 2495.62 81 2 26534801 . G A 2495.62 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.1790;MQ=59.31;MQ0=0;QD=30.81;VQSLOD=9.2161;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2529,211,0 2 26536694 26536694 C T exonic ADGRF3 nonsynonymous SNV ADGRF3:NM_153835:exon5:c.G613A:p.A205T,ADGRF3:NM_001145169:exon7:c.G1003A:p.A335T,ADGRF3:NM_001321971:exon7:c.G1006A:p.A336T,ADGRF3:NM_001145168:exon8:c.G1210A:p.A404T,ADGRF3:NM_001321975:exon8:c.G19A:p.A7T 0.66 0.7 0.71 0.67 0.69 0.55 0.6759 0.6807 0.7115 0.7216 0.6824 0.6928 0.6549 0.5545 0.69 0.68 0.7 0.63 . rs2052937 COSM4133758;COSM4133759 2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.221 B 0.0 0.121 B . . . 1 0.090 P -1.87 0.003 N 3.25 0.068 T 1.03 0.014 N 0.025 0.051 -0.966 0.380 T 0.000 0.000 T . . . 0.140 0.107 4.035 0.637 0.071 0.000 0.003 N c -1.389 -1.244 0.988 0.314 0.554 0.246 0 3.47 0.387 0.585 0.234 0.154 0.240 0.049 0.212 0.216 0.221 6.858 0.231 . ENSG00000173567.10|ENSG00000138018.13|ENSG00000173567.10 Cells_Transformed_fibroblasts|Muscle_Skeletal|Pancreas 0.6769 0.6883 0.7104 0.5935 0.7171 0.6838 0.6980 0.6762 0.5581 0.6911 0.6862 0.7043 0.5828 0.7079 0.6740 0.6985 0.6769 hom 2751.40 91 2 26536694 . C T 2751.40 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=59.80;MQ0=0;QD=30.24;VQSLOD=9.0300;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2784,238,0 2 26607992 26607992 T C exonic SELENOI unknown UNKNOWN 0.94 0.9 0.98 0.89 0.97 0.98 0.9629 0.9080 0.9806 0.8929 0.9823 0.9699 0.9637 0.9833 0.95 0.91 0.97 0.91 . rs934280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9648 0.9074 0.9816 0.9728 0.8888 0.9824 0.9706 0.9600 0.9843 0.9496 0.9054 0.9714 0.9768 0.8875 0.9797 0.9721 0.9683 hom 623.26 20 2 26607992 . T C 623.26 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=31.16;VQSLOD=9.2526;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:51.16:656,51,0 2 26647277 26647277 T G exonic DRC1 synonymous SNV DRC1:NM_145038:exon4:c.T495G:p.A165A 0.62 0.51 0.66 0.33 0.88 0.78 0.7771 0.5519 0.5857 0.3044 0.9266 0.8899 0.8146 0.7814 0.79 0.58 0.89 0.58 0.79 rs7423300 COSM4001625 4(haematopoietic_and_lymphoid_tissue) Uncertain significance\x2cBenign Primary_ciliary_dyskinesia\x2cnot_specified RCV000234781.1\x2cRCV000253512.1 MedGen:Orphanet\x2cMedGen C0008780:ORPHA244\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7759 0.5523 0.5981 0.8570 0.3024 0.9285 0.8920 0.8179 0.7817 0.7619 0.5588 0.6463 0.8676 0.2767 0.9255 0.8903 0.8768 hom 3159.78 102 2 26647277 . T G 3159.78 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.471;DP=102;Dels=0.00;FS=3.534;HRun=2;HaplotypeScore=0.8321;MQ=59.32;MQ0=0;MQRankSum=-0.543;QD=30.98;ReadPosRankSum=1.026;VQSLOD=4.3763;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,100:102:99:3193,196,0 2 26667615 26667615 T C exonic DRC1 nonsynonymous SNV DRC1:NM_145038:exon10:c.T1195C:p.W399R 1. 1. 1. 1. 1. 1. 0.9993 0.9938 0.9998 1 1 1 1 0.9992 1. 0.99 1. 0.99 1. rs939820 . . Benign not_specified RCV000243978.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.059 0.223 N 1.000 0.090 P -2.47 0.001 N 2.77 0.114 T 2.89 0.002 N 0.033 0.013 -0.962 0.389 T 0.000 0.000 T . . . -0.258 0.071 0.825 0.334 0.020 0.153 0.187 N c -0.899 -0.607 0.013 0.124 0.497 0.185 0 5.51 0.817 1.134 0.308 0.016 0.142 0.995 0.385 0.851 0.355 9.258 0.366 . . . 0.9995 0.9935 0.9998 1 1 1 1.0000 1 0.9993 0.9976 0.9915 1 1 1 1 0.9999 1 hom 2186.93 74 2 26667615 . T C 2186.93 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=29.55;VQSLOD=7.6663;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2220,175,0 2 26741961 26741961 G A exonic OTOF nonsynonymous SNV OTOF:NM_001287489:exon4:c.C244T:p.R82C,OTOF:NM_194248:exon4:c.C244T:p.R82C 0.27 0.067 0.5 0.082 0.46 0.38 0.4350 0.1508 0.5254 0.1070 0.4169 0.5089 0.4540 0.4296 0.37 0.14 0.48 0.27 0.34 rs13031859 COSM3758163 1(breast);1(large_intestine) Benign|Benign|Likely benign Deafness\x2c_autosomal_recessive_9|not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000021048.1|RCV000041497.3|RCV000367748.1 MedGen:OMIM|MedGen|MedGen C1832828:601071|CN169374|CN239439 . . . . . . 0.075 0.344 T 0.002 0.090 B 0.006 0.112 B 0.000 0.537 N 0.000 0.492 P 0 0.065 N -0.63 0.720 T -0.37 0.132 N 0.09 0.088 -0.934 0.436 T 0.000 0.000 T . . . 3.104 0.433 22.5 0.952 0.259 0.698 0.340 D c -0.604 -0.463 0.019 0.131 0.447 0.083 0 1.2 0.201 1.496 0.350 -0.213 0.100 1.000 0.715 0.984 0.507 8.963 0.348 C2 domain . . 0.4058 0.1234 0.4981 0.4541 0.0900 0.3457 0.4739 0.4488 0.4041 0.3325 0.1350 0.5095 0.4333 0.0932 0.3668 0.4498 0.3885 hom 1505.09 49 2 26741961 . G A 1505.09 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.72;VQSLOD=13.4584;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1538,120,0 2 26800422 26800422 G A exonic C2orf70 nonsynonymous SNV C2orf70:NM_001322426:exon4:c.G349A:p.G117R 0.34 0.2 0.58 0.22 0.46 0.36 0.4282 0.2379 0.5627 0.2121 0.3667 0.4825 0.4298 0.3648 0.4 0.24 0.48 0.41 0.43 rs1053807 . . . . . . . . . . . . . . . . . . . . . . . . . 1.000 0.516 P . . . . . . -8.0 0.965 D . . -1.032 0.200 T 0.000 0.000 T . . . 0.065 0.100 3.241 0.821 0.136 0.012 0.043 N c -2.046 -2.294 1.0 0.983 0.534 0.214 0 -10.5 0.002 -5.058 0.002 -2.872 0.002 0.000 0.063 0.051 0.165 1.084 0.015 . ENSG00000173557.10 Testis 0.4350 0.2315 0.5607 0.4786 0.2028 0.3750 0.4856 0.4741 0.3685 0.3854 0.2366 0.5239 0.5033 0.1927 0.3786 0.4798 0.4550 hom 4694.81 155 2 26800422 . G A 4694.81 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.695;DP=155;Dels=0.00;FS=9.556;HRun=0;HaplotypeScore=0.9734;MQ=59.33;MQ0=0;MQRankSum=0.500;QD=30.29;ReadPosRankSum=0.877;VQSLOD=3.3534;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:3,152:155:99:4584,253,0 2 27169842 27169842 C A exonic DPYSL5 synonymous SNV DPYSL5:NM_001253723:exon13:c.C1674A:p.G558G,DPYSL5:NM_001253724:exon13:c.C1674A:p.G558G,DPYSL5:NM_020134:exon13:c.C1674A:p.G558G 0.57 0.42 0.46 0.71 0.63 0.68 0.5829 0.4435 0.3550 0.6853 0.6516 0.6018 0.5674 0.6715 0.55 0.44 0.61 0.6 0.56 rs11126784 COSM3758164 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5775 0.4319 0.3613 0.6034 0.6903 0.6462 0.6049 0.5752 0.6672 0.5581 0.4400 0.3866 0.5629 0.7006 0.6438 0.5989 0.5888 het 644.42 73 2 27169842 . C A 644.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.191;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7980;MQ=59.68;MQ0=0;MQRankSum=1.319;QD=8.83;ReadPosRankSum=0.169;VQSLOD=6.0717;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,25:73:99:674,0,1357 2 27246285 27246285 C T exonic MAPRE3 synonymous SNV MAPRE3:NM_001303050:exon3:c.C207T:p.H69H,MAPRE3:NM_012326:exon3:c.C207T:p.H69H 0.88 0.82 0.85 0.84 0.93 0.97 0.9101 0.8386 0.8251 0.8358 0.9264 0.9280 0.9031 0.9754 0.9 0.85 0.93 0.9 0.89 rs10865456 COSM5425576 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9069 0.8339 0.8295 0.9083 0.8391 0.9241 0.9284 0.9028 0.9754 0.8975 0.8391 0.8361 0.8775 0.8478 0.9316 0.9312 0.9204 hom 7116.01 234 2 27246285 . C T 7116.01 Mask AC=2;AF=1.00;AN=2;DP=234;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5299;MQ=59.14;MQ0=0;QD=30.41;VQSLOD=8.8861;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,234:234:99:7115,554,0 2 27260469 27260469 G A exonic TMEM214 nonsynonymous SNV TMEM214:NM_001083590:exon8:c.G916A:p.V306M,TMEM214:NM_017727:exon9:c.G1051A:p.V351M 0.3 0.45 0.4 0.066 0.31 0.28 0.3161 0.4313 0.4699 0.0690 0.2702 0.3152 0.3389 0.2900 0.34 0.42 0.31 0.35 0.28 rs1124649 COSM3758166 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.021 0.524 D 1.0 0.899 D 0.995 0.818 D 0.000 0.629 D 0.000 0.588 P 2.77 0.812 M 0.51 0.555 T -0.83 0.232 N 0.38 0.440 -1.026 0.217 T 0.000 0.000 T . . . 6.601 0.907 31 0.995 0.662 0.976 0.755 D c 0.889 0.879 1.000 0.747 0.707 0.730 0 5.69 0.883 9.347 0.964 1.048 0.713 1.000 0.715 1.000 0.888 17.591 0.878 . ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000084764.6|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000084764.6|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.3171 0.4330 0.4671 0.3004 0.0681 0.2721 0.3117 0.3186 0.2927 0.3420 0.4396 0.4558 0.3067 0.0813 0.2801 0.3242 0.3135 het 2751.23 208 2 27260469 . G A 2751.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.663;DP=208;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6456;MQ=59.71;MQ0=0;MQRankSum=-0.068;QD=13.23;ReadPosRankSum=1.414;VQSLOD=6.2512;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,104:208:99:2781,0,2651 2 27282229 27282229 T A exonic AGBL5 synonymous SNV AGBL5:NM_001035507:exon11:c.T2046A:p.S682S,AGBL5:NM_021831:exon11:c.T2046A:p.S682S 0.016 0.046 0.016 . 0.007 0.002 0.0091 0.0383 0.0042 0 0.0048 0.0087 0.0121 0.0025 0.02 0.04 0.0095 0.011 0.016 rs34931609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0088 0.0395 0.0057 0.0142 0 0.0057 0.0087 0.0104 0.0029 0.0185 0.0397 0.0120 0.0033 0 0.0052 0.0126 0.0102 het 1190.80 100 2 27282229 . T A 1190.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.135;DP=100;Dels=0.00;FS=0.751;HRun=1;HaplotypeScore=0.8941;MQ=59.63;MQ0=0;MQRankSum=0.328;QD=11.91;ReadPosRankSum=0.141;VQSLOD=6.1003;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,48:100:99:1221,0,1400 2 27303755 27303755 A G exonic EMILIN1 nonsynonymous SNV EMILIN1:NM_007046:exon3:c.A446G:p.Q149R 0.97 0.89 0.98 1. 1. 1. 0.9928 0.9211 0.9962 0.9999 1 0.9994 0.9906 0.9996 0.98 0.93 1. 0.92 0.87 rs2736976 COSM4133770 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9936 0.9114 0.9948 0.9995 0.9999 1 0.9994 0.9958 0.9997 0.9780 0.9241 0.9893 0.9967 1 1 0.9995 0.9980 hom 801.59 26 2 27303755 . A G 801.59 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8273;MQ=59.11;MQ0=0;QD=30.83;VQSLOD=8.4417;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:72.17:835,72,0 2 27315252 27315252 G A exonic KHK nonsynonymous SNV KHK:NM_000221:exon2:c.G145A:p.V49I,KHK:NM_006488:exon2:c.G145A:p.V49I 0.33 0.3 0.5 0.23 0.38 0.3 0.3776 0.3156 0.6357 0.2398 0.3328 0.3814 0.4093 0.3085 0.36 0.32 0.38 0.35 0.34 rs2304681 COSM1407364;COSM1407365 2(large_intestine) Benign Fructosuria\x2c_essential RCV000357894.1 MedGen:OMIM C0268160:229800 . . . . . . 0.065 0.363 T 0.045 0.357 B 0.012 0.322 B 0.000 0.477 N 0.009 0.421 P 2.265 0.646 M -1.13 0.777 T -0.84 0.229 N 0.054 0.048 -0.937 0.431 T 0.000 0.000 T . . . 3.631 0.494 23.2 0.998 0.861 0.799 0.394 D c -0.287 -0.241 1.000 0.489 0.744 0.983 0 2.71 0.310 4.247 0.583 1.045 0.669 1.000 0.715 0.668 0.302 7.773 0.280 Carbohydrate kinase PfkB|Ribokinase-like ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000157851.12|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000084764.6|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000084764.6|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.3862 0.3167 0.6235 0.3866 0.2350 0.3335 0.3781 0.4030 0.3107 0.3609 0.3254 0.5943 0.4040 0.2417 0.3365 0.3859 0.3665 het 855.89 71 2 27315252 . G A 855.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.518;DP=71;Dels=0.00;FS=2.332;HRun=0;HaplotypeScore=0.8667;MQ=59.61;MQ0=0;MQRankSum=-0.329;QD=12.05;ReadPosRankSum=0.024;VQSLOD=6.8308;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,34:71:99:886,0,1051 2 27324724 27324724 G C exonic CGREF1 synonymous SNV CGREF1:NM_001166239:exon6:c.C375G:p.T125T,CGREF1:NM_006569:exon6:c.C375G:p.T125T 0.57 0.38 0.46 0.77 0.62 0.68 0.5921 0.4144 0.3508 0.7597 0.6560 0.6116 0.5619 0.6820 0.55 0.42 0.62 0.48 0.58 rs2384571 COSM3758171;COSM3758172;COSM3758173 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5878 0.4080 0.3579 0.6058 0.7651 0.6531 0.6152 0.5816 0.6791 0.5589 0.4132 0.3771 0.5933 0.7580 0.6523 0.6065 0.6086 het 1196.85 120 2 27324724 . G C 1196.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.826;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0260;MQ=59.44;MQ0=0;MQRankSum=1.315;QD=9.97;ReadPosRankSum=0.078;VQSLOD=6.0136;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,48:120:99:1227,0,1852 2 27324751 27324751 G T exonic CGREF1 synonymous SNV CGREF1:NM_001166239:exon6:c.C348A:p.I116I,CGREF1:NM_006569:exon6:c.C348A:p.I116I 0.54 0.27 0.45 0.76 0.62 0.68 0.5821 0.3033 0.3462 0.7553 0.6552 0.6114 0.5622 0.6831 0.51 0.31 0.61 0.46 0.58 rs2384572 COSM3758176;COSM3758174;COSM3758175 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5787 0.2923 0.3531 0.6058 0.7610 0.6535 0.6145 0.5756 0.6789 0.5265 0.2997 0.3756 0.5894 0.7550 0.6523 0.6062 0.6074 het 1037.81 104 2 27324751 . G T 1037.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.205;DP=104;Dels=0.00;FS=0.780;HRun=0;HaplotypeScore=0.8941;MQ=59.78;MQ0=0;MQRankSum=0.772;QD=9.98;ReadPosRankSum=0.238;VQSLOD=6.5889;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,43:104:99:1068,0,1599 2 27351948 27351948 T G exonic ABHD1 nonsynonymous SNV ABHD1:NM_032604:exon3:c.T411G:p.D137E 0.98 0.94 1. 1. 1. 1. 0.9952 0.9477 0.9981 1 1 0.9998 0.9978 0.9999 0.98 0.95 1. 0.97 1. rs6715286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9961 0.9457 0.9973 0.9997 1 1 0.9998 0.9982 0.9999 0.9847 0.9469 0.9940 0.9967 1 1 0.9997 0.9990 hom 4553.01 140 2 27351948 . T G 4553.01 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.84;MQ0=0;QD=32.52;VQSLOD=9.5913;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4552,358,0 2 27424636 27424636 G A exonic SLC5A6 nonsynonymous SNV SLC5A6:NM_021095:exon14:c.C1442T:p.S481F 0.53 0.16 0.52 0.85 0.69 0.55 0.6193 0.2362 0.4243 0.8526 0.7091 0.6874 0.6261 0.5625 0.54 0.25 0.69 0.4 0.59 rs1395 COSM4133773 1(breast);1(thyroid) . . . . . Blood metabolite levels . .02 24816252 rs1395 8E-11 0.04 0.421 D 0.012 0.151 B 0.011 0.145 B 0.401 0.131 N 0.072 0.369 P 2.81 0.821 M -2.11 0.862 D -0.96 0.255 N 0.09 0.149 -0.919 0.457 T 0.000 0.000 T . . . 3.357 0.462 22.9 0.991 0.511 0.704 0.343 D c -0.243 -0.155 0.999 0.387 0.707 0.730 0 4.78 0.605 1.001 0.292 0.953 0.551 0.002 0.151 0.319 0.240 12.560 0.554 . ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000115234.6|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.6210 0.2276 0.4281 0.6459 0.8542 0.7075 0.6934 0.6239 0.5624 0.5669 0.2336 0.4426 0.6490 0.8522 0.7045 0.6980 0.6480 het 952.06 70 2 27424636 . G A 952.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.249;DP=70;Dels=0.00;FS=2.002;HRun=1;HaplotypeScore=1.6828;MQ=59.67;MQ0=0;MQRankSum=0.441;QD=13.60;ReadPosRankSum=-0.746;VQSLOD=6.7605;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,34:70:99:982,0,1117 2 27428295 27428295 A G exonic SLC5A6 synonymous SNV SLC5A6:NM_021095:exon7:c.T657C:p.I219I 1. 0.99 1. 1. 1. 1. 0.9997 0.9963 0.9999 1 1 1.0000 1 0.9999 1. 1. 1. 1. 1. rs1275524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9952 0.9997 1 1 1 1.0000 1 1 0.9982 0.9937 1 1 1 1 0.9999 1 hom 3292.54 111 2 27428295 . A G 3292.54 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4302;MQ=58.73;MQ0=0;QD=29.66;VQSLOD=8.6758;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3292,283,0 2 27440785 27440785 C T exonic CAD synonymous SNV CAD:NM_001306079:exon2:c.C123T:p.T41T,CAD:NM_004341:exon2:c.C123T:p.T41T 1. 0.98 1. 1. 1. 1. 0.9986 0.9855 0.9994 1 1 0.9999 0.9989 1 1. 0.99 1. 1. 1. rs1275536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9987 0.9832 0.9989 1 0.9999 1 0.9999 0.9993 1.0000 0.9947 0.9815 0.9988 1 1 1 0.9999 1 hom 5673.81 181 2 27440785 . C T 5673.81 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8801;MQ=58.91;MQ0=0;QD=31.35;VQSLOD=8.1119;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5673,433,0 2 27459364 27459364 T C exonic CAD synonymous SNV CAD:NM_001306079:exon25:c.T4098C:p.D1366D,CAD:NM_004341:exon26:c.T4287C:p.D1429D 0.084 0.28 0.049 . 0.013 0.002 0.0313 0.2587 0.0142 0.0001 0.0067 0.0124 0.0297 0.0028 0.095 0.25 0.016 0.12 0.041 rs10193746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0272 0.2594 0.0177 0.0392 0 0.0084 0.0119 0.0210 0.0032 0.0814 0.2538 0.0358 0.0166 0 0.0077 0.0150 0.0214 het 1035.40 85 2 27459364 . T C 1035.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.723;DP=85;Dels=0.00;FS=1.801;HRun=0;HaplotypeScore=1.9990;MQ=59.41;MQ0=0;MQRankSum=-0.066;QD=12.18;ReadPosRankSum=-0.146;VQSLOD=6.8741;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,38:85:99:1065,0,1261 2 27460968 27460968 A G exonic CAD synonymous SNV CAD:NM_001306079:exon29:c.A4584G:p.A1528A,CAD:NM_004341:exon30:c.A4773G:p.A1591A 0.45 0.84 0.47 0.15 0.29 0.41 0.3653 0.7630 0.5745 0.1481 0.2451 0.2982 0.3422 0.4020 0.45 0.75 0.3 0.56 0.33 rs1141313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3628 0.7717 0.5665 0.3454 0.1450 0.2457 0.2937 0.3595 0.4006 0.4209 0.7635 0.5552 0.3411 0.1469 0.2536 0.2903 0.3265 het 895.08 86 2 27460968 . A G 895.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.765;DP=86;Dels=0.00;FS=0.837;HRun=1;HaplotypeScore=1.6498;MQ=59.08;MQ0=0;MQRankSum=0.870;QD=10.41;ReadPosRankSum=0.949;VQSLOD=6.6282;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,35:86:99:925,0,1398 2 27461368 27461368 T C exonic CAD nonsynonymous SNV CAD:NM_001306079:exon30:c.T4741C:p.F1581L,CAD:NM_004341:exon31:c.T4930C:p.F1644L 0.0022 . 0.0072 . 0.005 0.001 0.0045 0.0008 0.0012 0.0001 0.0067 0.0069 0.0046 0.0007 0.0056 0.0014 0.0078 . 0.016 rs144692793 . . . . . . . . . . . . . 0.034 0.440 D 0.968 0.689 D 0.853 0.769 P 0.000 0.843 D 1 0.810 D 1.265 0.321 L -4.74 0.981 D -3.39 0.671 D 0.637 0.654 0.879 0.954 D 0.873 0.958 D 0.244 0.889 D 5.951 0.817 27.7 0.998 0.922 0.989 0.881 D c 0.474 0.482 1.000 0.747 0.672 0.522 0 4.94 0.645 7.658 0.826 0.964 0.580 1.000 0.715 0.615 0.291 13.448 0.604 Metal-dependent hydrolase . . 0.0050 0.0009 0.0023 0.0078 0 0.0082 0.0076 0.0033 0.0007 0.0070 0.0016 0.0060 0 0 0.0074 0.0110 0.0071 het 1569.87 148 2 27461368 . T C 1569.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.818;DP=148;Dels=0.00;FS=1.336;HRun=0;HaplotypeScore=3.4391;MQ=59.59;MQ0=0;MQRankSum=-0.502;QD=10.61;ReadPosRankSum=-0.030;VQSLOD=4.4950;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,60:148:99:1600,0,2339 2 27478231 27478231 A G exonic SLC30A3 synonymous SNV SLC30A3:NM_001318951:exon8:c.T1077C:p.Y359Y,SLC30A3:NM_003459:exon8:c.T1116C:p.Y372Y,SLC30A3:NM_001318949:exon9:c.T1101C:p.Y367Y,SLC30A3:NM_001318950:exon9:c.T1077C:p.Y359Y 0.14 0.48 0.062 . 0.015 0.002 0.0482 0.4457 0.0192 0 0.0069 0.0129 0.0317 0.0028 0.15 0.42 0.017 0.22 0.041 rs13390228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0402 0.4501 0.0246 0.0391 0 0.0084 0.0122 0.0285 0.0034 0.1350 0.4425 0.0430 0.0166 0 0.0077 0.0154 0.0285 het 459.56 38 2 27478231 . A G 459.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.770;DP=38;Dels=0.00;FS=11.101;HRun=1;HaplotypeScore=1.5661;MQ=59.39;MQ0=0;MQRankSum=-0.399;QD=12.09;ReadPosRankSum=1.937;VQSLOD=4.1467;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,16:38:99:490,0,588 2 27481652 27481652 A C exonic SLC30A3 synonymous SNV SLC30A3:NM_001318951:exon2:c.T207G:p.V69V,SLC30A3:NM_003459:exon2:c.T246G:p.V82V,SLC30A3:NM_001318949:exon3:c.T231G:p.V77V,SLC30A3:NM_001318950:exon3:c.T207G:p.V69V 0.12 0.42 0.052 . 0.013 0.002 0.0432 0.3962 0.0170 0 0.0067 0.0127 0.0268 0.0027 0.14 0.37 0.016 0.16 0.041 rs1992290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0365 0.4003 0.0220 0.0390 0 0.0084 0.0120 0.0245 0.0032 0.1207 0.3920 0.0406 0.0166 0 0.0077 0.0151 0.0255 het 1505.97 155 2 27481652 . A C 1505.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.714;DP=155;Dels=0.00;FS=3.891;HRun=0;HaplotypeScore=3.3452;MQ=58.15;MQ0=0;MQRankSum=0.387;QD=9.72;ReadPosRankSum=1.546;VQSLOD=4.8389;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:91,64:155:99:1536,0,2432 2 27550967 27550967 A G exonic GTF3C2 synonymous SNV GTF3C2:NM_001035521:exon17:c.T2346C:p.P782P,GTF3C2:NM_001318909:exon17:c.T2379C:p.P793P,GTF3C2:NM_001521:exon18:c.T2346C:p.P782P 0.45 0.74 0.48 0.16 0.38 0.4 0.4216 0.6923 0.5735 0.1557 0.4476 0.3891 0.4262 0.4047 0.49 0.68 0.39 0.6 0.43 rs1049817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4192 0.6941 0.5606 0.3464 0.1516 0.4437 0.3870 0.4096 0.4045 0.4779 0.6983 0.5585 0.34 0.1541 0.4472 0.3936 0.4242 hom 4080.87 121 2 27550967 . A G 4080.87 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8867;MQ=58.96;MQ0=0;QD=33.73;VQSLOD=9.5136;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:4081,316,0 2 27676287 27676287 A T exonic IFT172 synonymous SNV IFT172:NM_015662:exon35:c.T3915A:p.S1305S 0.35 0.37 0.45 0.17 0.37 0.44 0.3886 0.3673 0.5648 0.1533 0.4281 0.3799 0.4128 0.4196 0.38 0.37 0.38 0.41 0.43 rs56076827 COSM5425733 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000443115.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3931 0.3581 0.5513 0.3326 0.1512 0.4270 0.3787 0.3915 0.4203 0.3789 0.3718 0.5443 0.3167 0.1582 0.4306 0.3848 0.4090 hom 5465.11 168 2 27676287 . A T 5465.11 Mask AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7214;MQ=59.36;MQ0=0;QD=32.53;VQSLOD=8.9524;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,168:168:99:5465,418,0 2 27730940 27730940 T C exonic GCKR nonsynonymous SNV GCKR:NM_001486:exon15:c.T1337C:p.L446P 0.71 0.91 0.64 0.52 0.59 0.8 0.6429 0.8646 0.6786 0.5061 0.6545 0.5892 0.6578 0.7605 0.68 0.86 0.58 0.73 0.64 rs1260326 COSM4133785 1(pancreas);1(skin);1(thyroid) other Fasting_plasma_glucose_level_quantitative_trait_locus_5 RCV000009294.2 MedGen:OMIM C3150714:613463 Metabolic traits . .09 19060910 rs1260326 4E-10 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.077 0.211 N 0.267 0.337 P . . . 2.31 0.168 T 2.42 0.003 N 0.368 0.429 -1.049 0.147 T 0.000 0.000 T . . . -0.625 0.049 0.108 0.040 0.000 0.018 0.055 N c 0.291 0.031 0.091 0.161 0.554 0.246 0 2.95 0.331 0.075 0.144 -0.320 0.077 0.996 0.391 0.412 0.256 6.324 0.203 Sugar isomerase (SIS) ENSG00000115216.9|ENSG00000157992.8|ENSG00000234072.1|ENSG00000234072.1|ENSG00000234072.1|ENSG00000234072.1|ENSG00000115234.6|ENSG00000234072.1|ENSG00000234072.1|ENSG00000115216.9|ENSG00000115226.5|ENSG00000234072.1|ENSG00000115216.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Pituitary|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.6333 0.8692 0.6679 0.4656 0.5080 0.6425 0.5904 0.5959 0.7577 0.6758 0.8641 0.6843 0.4503 0.5056 0.6377 0.6005 0.6283 hom 1900.36 59 2 27730940 . T C 1900.36 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5494;MQ=59.61;MQ0=0;QD=32.21;VQSLOD=9.0435;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1933,156,0 2 27799773 27799773 A C exonic C2orf16 nonsynonymous SNV C2orf16:NM_032266:exon1:c.A334C:p.N112H 0.0054 . 0.014 . 0.015 0.002 0.0098 0.0016 0.0042 0.0003 0.0207 0.0140 0.0089 0.0022 0.011 0.0024 0.015 0.011 0.025 rs115018606 COSM5002034;COSM5002033 1(pancreas) . . . . . . . . . . . 0.019 0.501 D 0.972 0.554 D 0.46 0.446 P . . . 1 0.090 N 0 0.065 N 3.4 0.057 T -0.49 0.156 N 0.008 0.000 -0.955 0.402 T 0.009 0.031 T . . . -1.069 0.029 0.011 0.630 0.069 0.040 0.093 N c -0.569 -0.715 0.097 0.163 0.554 0.283 0 1.4 0.213 0.409 0.207 1.061 0.807 0.000 0.063 0.003 0.074 4.915 0.131 . . . 0.0106 0.0016 0.0054 0.0210 0.0001 0.0213 0.0142 0.0099 0.0024 0.0120 0.0026 0.0072 0.0265 0 0.0203 0.0169 0.0122 het 624.67 50 2 27799773 . A C 624.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.410;DP=50;Dels=0.00;FS=2.463;HRun=0;HaplotypeScore=2.6766;MQ=59.07;MQ0=0;MQRankSum=0.750;QD=12.49;ReadPosRankSum=-1.690;VQSLOD=5.3286;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,26:50:99:655,0,676 2 27801403 27801403 C G exonic C2orf16 nonsynonymous SNV C2orf16:NM_032266:exon1:c.C1964G:p.T655S 0.66 0.74 0.69 0.85 0.5 0.51 0.5605 0.6970 0.6738 0.8461 0.5121 0.5025 0.5179 0.5068 0.56 0.69 0.5 0.73 0.52 rs1919125 . . . . . . . . . . . . . 0.426 0.096 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P 0 0.065 N 3.41 0.056 T -0.43 0.144 N 0.014 0.002 -1.056 0.129 T 0.000 0.000 T . . . -1.491 0.017 0.003 0.522 0.046 0.018 0.056 N c -1.630 -1.619 0.810 0.243 0.516 0.203 0 -0.677 0.107 -0.504 0.064 -2.720 0.002 0.000 0.063 0.003 0.074 5.683 0.169 . ENSG00000163798.9|ENSG00000234072.1|ENSG00000115241.9|ENSG00000115234.6|ENSG00000115216.9|ENSG00000084734.4|ENSG00000115226.5 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen 0.5639 0.6956 0.6662 0.5680 0.8446 0.5189 0.4966 0.5464 0.5075 0.5725 0.6796 0.6483 0.5772 0.8392 0.5017 0.4989 0.4949 het 878.52 80 2 27801403 . C G 878.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.088;DP=80;Dels=0.00;FS=0.831;HRun=0;HaplotypeScore=2.8607;MQ=59.30;MQ0=0;MQRankSum=-0.247;QD=10.98;ReadPosRankSum=1.533;VQSLOD=5.9369;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,36:80:99:909,0,1226 2 27801418 27801418 C A exonic C2orf16 nonsynonymous SNV C2orf16:NM_032266:exon1:c.C1979A:p.A660E 0.66 0.74 0.69 0.85 0.5 0.51 0.5605 0.6970 0.6738 0.8461 0.5121 0.5026 0.5179 0.5068 0.56 0.69 0.5 0.73 0.52 rs1919126 COSM4133787;COSM4133786 1(thyroid) . . . . . . . . . . . 0.342 0.126 T 0.0 0.026 B 0.001 0.040 B . . . 1.000 0.090 P 0.345 0.112 N 3.05 0.087 T -1.51 0.368 N 0.043 0.023 -1.065 0.106 T 0.000 0.000 T . . . 0.935 0.183 10.28 0.680 0.083 0.119 0.167 N c -1.070 -1.040 0.952 0.279 0.516 0.203 0 -3.09 0.050 -0.846 0.044 -0.999 0.022 0.796 0.294 0.551 0.280 1.854 0.030 . ENSG00000163798.9|ENSG00000234072.1|ENSG00000115241.9|ENSG00000115234.6|ENSG00000115216.9|ENSG00000084734.4|ENSG00000115226.5 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen 0.5638 0.6957 0.6662 0.5674 0.8445 0.5189 0.4966 0.5458 0.5075 0.5725 0.6795 0.6475 0.5772 0.8392 0.5014 0.4991 0.4959 het 900.82 74 2 27801418 . C A 900.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.518;DP=74;Dels=0.00;FS=1.931;HRun=1;HaplotypeScore=0.9997;MQ=59.24;MQ0=0;MQRankSum=0.461;QD=12.17;ReadPosRankSum=0.146;VQSLOD=6.9197;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,34:74:99:931,0,1122 2 27838058 27838058 C A exonic ZNF512 synonymous SNV ZNF512:NM_001271286:exon10:c.C1068A:p.L356L,ZNF512:NM_001271287:exon10:c.C924A:p.L308L,ZNF512:NM_001271288:exon10:c.C924A:p.L308L,ZNF512:NM_001271289:exon10:c.C840A:p.L280L,ZNF512:NM_032434:exon11:c.C1155A:p.L385L,ZNF512:NM_001271318:exon12:c.C924A:p.L308L 0.65 0.71 0.69 0.85 0.5 0.51 0.5596 0.6813 0.6715 0.8456 0.5121 0.5024 0.5187 0.5067 0.55 0.67 0.49 0.72 0.52 rs11127071 COSM5619193 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5594 0.6777 0.6612 0.5661 0.843 0.5185 0.4953 0.5395 0.5027 0.5710 0.6687 0.6478 0.5828 0.8399 0.5023 0.5014 0.5 het 1774.85 159 2 27838058 . C A 1774.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.060;DP=159;Dels=0.00;FS=3.164;HRun=0;HaplotypeScore=3.8848;MQ=59.36;MQ0=0;MQRankSum=0.316;QD=11.16;ReadPosRankSum=0.420;VQSLOD=5.9855;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,74:159:99:1805,0,2216 2 27887034 27887034 C A exonic SLC4A1AP nonsynonymous SNV SLC4A1AP:NM_018158:exon1:c.C415A:p.P139T 0.34 0.25 0.35 0.079 0.54 0.51 0.4731 0.3061 0.3454 0.0866 0.5554 0.5528 0.4934 0.5127 0.48 0.31 0.56 0.26 0.52 rs9678851 COSM4133788 1(thyroid) . . . . . . . . . . . 0.626 0.052 T 0.026 0.181 B 0.014 0.158 B 0.941 0.076 N 1 0.090 P 2.28 0.651 M 1.28 0.360 T 0.26 0.044 N 0.019 0.004 -0.906 0.474 T 0.000 0.000 T . . . -0.680 0.046 0.080 0.851 0.152 0.065 0.124 N c -1.257 -1.316 1.000 0.747 0.442 0.072 0 -1.94 0.071 -0.365 0.076 -0.031 0.126 0.000 0.063 0.001 0.043 7.715 0.277 SMAD/FHA domain ENSG00000163792.5|ENSG00000234072.1|ENSG00000115241.9|ENSG00000115216.9|ENSG00000115234.6|ENSG00000084734.4|ENSG00000115226.5 Adipose_Visceral_Omentum|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Spleen|Spleen 0.4712 0.2999 0.3530 0.5161 0.0880 0.5484 0.5581 0.4816 0.5128 0.4566 0.3151 0.3783 0.4801 0.0841 0.5722 0.5505 0.5449 hom 2855.15 94 2 27887034 . C A 2855.15 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=30.37;VQSLOD=9.0597;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2888,235,0 2 29001691 29001691 A G exonic PPP1CB synonymous SNV PPP1CB:NM_002709:exon3:c.A201G:p.Q67Q,PPP1CB:NM_206876:exon4:c.A201G:p.Q67Q 0.5 0.58 0.44 0.22 0.61 0.6 0.5447 0.5834 0.3315 0.2144 0.6039 0.6071 0.5529 0.5663 0.6 0.58 0.6 0.42 0.56 rs1128416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5335 0.5822 0.3429 0.5498 0.2078 0.5999 0.6102 0.5615 0.5645 0.5690 0.5769 0.3864 0.6192 0.2261 0.5867 0.6068 0.5625 het 318.44 31 2 29001691 . A G 318.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.352;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=57.55;MQ0=0;MQRankSum=0.415;QD=10.27;ReadPosRankSum=0.336;VQSLOD=6.4538;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,15:31:99:348,0,379 2 29092679 29092679 T C exonic TRMT61B synonymous SNV TRMT61B:NM_017910:exon1:c.A465G:p.E155E 0.51 0.39 0.57 0.78 0.41 0.42 0.4701 0.3926 0.6758 0.7824 0.4145 0.4178 0.4603 0.4450 0.41 0.38 0.42 0.56 0.4 rs4233729 COSM3758199 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4807 0.3826 0.6618 0.4827 0.7874 0.4174 0.4151 0.4553 0.4478 0.4332 0.3828 0.6199 0.4073 0.7706 0.4347 0.4151 0.4499 het 953.62 82 2 29092679 . T C 953.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.059;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7482;MQ=58.92;MQ0=0;MQRankSum=-0.299;QD=11.63;ReadPosRankSum=2.017;VQSLOD=5.5685;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,37:82:99:984,0,1110 2 29092850 29092850 G T exonic TRMT61B synonymous SNV TRMT61B:NM_017910:exon1:c.C294A:p.S98S 0.51 0.39 0.57 0.78 0.41 0.42 0.4692 0.3909 0.6753 0.7808 0.4135 0.4170 0.4592 0.4447 0.41 0.38 0.42 0.55 0.42 rs4666122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4804 0.3821 0.6615 0.4821 0.7869 0.4170 0.4146 0.4545 0.4475 0.4328 0.3824 0.6199 0.4073 0.7704 0.4343 0.4139 0.4517 het 1164.89 105 2 29092850 . G T 1164.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.354;DP=105;Dels=0.00;FS=1.782;HRun=0;HaplotypeScore=1.5661;MQ=59.82;MQ0=0;MQRankSum=-0.655;QD=11.09;ReadPosRankSum=0.851;VQSLOD=6.4719;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,48:105:99:1195,0,1588 2 29135468 29135468 C G exonic WDR43 synonymous SNV WDR43:NM_015131:exon4:c.C498G:p.G166G 0.7 0.52 0.76 0.86 0.7 0.73 0.7265 0.5445 0.8098 0.8541 0.7614 0.7194 0.7483 0.7227 0.67 0.57 0.72 0.59 . rs6715296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7304 0.5346 0.8038 0.6881 0.8604 0.7620 0.7155 0.7212 0.7212 0.6782 0.5420 0.7416 0.7152 0.8379 0.7620 0.7131 0.7275 hom 3148.90 108 2 29135468 . C G 3148.90 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=29.16;VQSLOD=8.6720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3182,241,0 2 29152456 29152456 A G exonic WDR43 synonymous SNV WDR43:NM_015131:exon11:c.A1317G:p.E439E 0.42 0.36 0.43 0.07 0.69 0.57 0.5701 0.4083 0.3013 0.0639 0.5519 0.6998 0.6090 0.5971 0.63 0.43 0.72 0.36 . rs1140697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5601 0.3959 0.3137 0.7495 0.0622 0.5567 0.7036 0.6252 0.5970 0.5609 0.4110 0.3585 0.7748 0.0564 0.5529 0.7077 0.6193 hom 1664.13 50 2 29152456 . A G 1664.13 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=33.28;VQSLOD=9.6241;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1697,129,0 2 29169612 29169612 T C exonic WDR43 synonymous SNV WDR43:NM_015131:exon18:c.T2001C:p.D667D 0.76 0.71 0.79 0.86 0.71 0.74 0.7675 0.7469 0.8350 0.8665 0.7859 0.7539 0.7797 0.7387 0.72 0.73 0.72 0.64 . rs3087649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7458 0.7108 0.8113 0.6926 0.8616 0.7637 0.7186 0.7364 0.7245 0.7274 0.7134 0.7554 0.7185 0.8364 0.7628 0.7136 0.7362 hom 430.62 14 2 29169612 . T C 430.62 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;QD=30.76;VQSLOD=8.5041;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:464,36,0 2 29226498 29226498 G A exonic TOGARAM2 synonymous SNV TOGARAM2:NM_001321538:exon6:c.G780A:p.P260P,TOGARAM2:NM_001321539:exon6:c.G780A:p.P260P,TOGARAM2:NM_199280:exon6:c.G780A:p.P260P 0.59 0.31 0.71 0.67 0.76 0.65 0.7232 0.3763 0.7577 0.6448 0.6818 0.7810 0.7570 0.7007 0.66 0.38 0.8 0.51 . rs12613325 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7215 0.3459 0.7582 0.7943 0.6433 0.6818 0.7791 0.7468 0.6882 0.6463 0.3697 0.7446 0.8046 0.6415 0.6856 0.7846 0.7280 hom 620.69 24 2 29226498 . G A 620.69 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;QD=25.86;VQSLOD=7.8091;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:51.15:654,51,0 2 29226512 29226512 A G exonic TOGARAM2 nonsynonymous SNV TOGARAM2:NM_001321538:exon6:c.A794G:p.Q265R,TOGARAM2:NM_001321539:exon6:c.A794G:p.Q265R,TOGARAM2:NM_199280:exon6:c.A794G:p.Q265R 0.74 0.6 0.81 0.83 0.84 0.71 0.8124 0.6366 0.8141 0.8123 0.7730 0.8538 0.8617 0.7495 0.8 0.66 0.86 0.79 . rs12623297 COSM4133799 1(thyroid) . . . . . . . . . . . 0.033 0.443 D 0.999 0.764 D 0.994 0.807 D . . . 0.973 0.255 P 2.05 0.567 M 2.43 0.153 T -1.34 0.334 N 0.188 0.230 -1.159 0.008 T 0.000 0.000 T . . . 1.250 0.215 12.01 0.997 0.827 0.958 0.659 D c 0.063 0.113 0.994 0.334 0.428 0.059 0 5.16 0.704 3.076 0.495 1.140 0.893 0.994 0.380 0.279 0.233 11.387 0.488 . ENSG00000189350.8 Nerve_Tibial 0.8131 0.6222 0.8227 0.8509 0.8167 0.7872 0.8558 0.8260 0.7412 0.7831 0.6368 0.8091 0.8676 0.8027 0.7987 0.8576 0.8098 hom 567.62 22 2 29226512 . A G 567.62 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.80;VQSLOD=12.9581;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:45.14:601,45,0 2 29246044 29246044 T C exonic TOGARAM2 nonsynonymous SNV TOGARAM2:NM_001321538:exon11:c.T1439C:p.V480A,TOGARAM2:NM_199280:exon12:c.T1604C:p.V535A 0.47 0.62 0.4 0.7 0.32 0.25 0.4306 0.6148 0.4420 0.7438 0.3955 0.3977 0.4412 0.2793 0.4 0.55 0.33 0.61 . rs6721861 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.457 N 1.000 0.186 P -2.155 0.001 N 2.54 0.139 T 3.56 0.001 N 0.031 0.306 -0.964 0.383 T 0.000 0.000 T . . . 0.756 0.166 9.189 0.343 0.021 0.031 0.080 N c -0.900 -0.624 0.801 0.242 0.516 0.203 0 4.61 0.566 4.004 0.565 0.069 0.176 0.997 0.399 0.958 0.437 10.474 0.436 Armadillo-like helical|Armadillo-type fold|CLASP N-terminal domain;Armadillo-type fold|CLASP N-terminal domain . . 0.3549 0.5772 0.3393 0.3030 0.7203 0.2916 0.3230 0.3377 0.2484 0.4251 0.5844 0.3484 0.3133 0.7103 0.3026 0.3433 0.3289 het 78.25 17 2 29246044 . T C 78.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.264;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=57.01;MQ0=0;MQRankSum=-2.055;QD=4.60;ReadPosRankSum=0.791;VQSLOD=3.6204;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,5:17:99:108,0,320 2 29356669 29356669 A G exonic CLIP4 synonymous SNV CLIP4:NM_001287527:exon5:c.A516G:p.T172T,CLIP4:NM_001287528:exon5:c.A516G:p.T172T,CLIP4:NM_024692:exon5:c.A516G:p.T172T 0.42 0.67 0.32 0.32 0.4 0.25 0.3704 0.6158 0.2172 0.3150 0.3235 0.3911 0.3647 0.2823 0.47 0.61 0.4 0.43 0.41 rs3100232 COSM4415218 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3620 0.6172 0.2336 0.4308 0.3187 0.3173 0.3934 0.3855 0.2786 0.4395 0.6065 0.2584 0.4139 0.2921 0.3287 0.3971 0.4010 het 939.13 87 2 29356669 . A G 939.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.024;DP=87;Dels=0.00;FS=0.818;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;MQRankSum=-0.047;QD=10.79;ReadPosRankSum=-1.253;VQSLOD=5.5351;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,42:87:99:969,0,1141 2 29366646 29366646 C T exonic CLIP4 synonymous SNV CLIP4:NM_001287527:exon7:c.C720T:p.A240A,CLIP4:NM_001287528:exon7:c.C720T:p.A240A,CLIP4:NM_024692:exon7:c.C720T:p.A240A 0.03 0.032 0.03 . 0.076 0.011 0.0519 0.0398 0.0298 0.0001 0.1108 0.0691 0.0518 0.0090 0.058 0.036 0.069 0.011 0.082 rs35024908 COSM3758200;COSM5829456 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0522 0.0392 0.0300 0.0557 5.8e-05 0.1051 0.0692 0.0593 0.0099 0.0577 0.0360 0.0263 0.0430 0 0.0913 0.0697 0.0745 het 4457.61 227 2 29366646 . C T 4457.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.844;DP=227;Dels=0.00;FS=5.888;HRun=0;HaplotypeScore=6.1526;MQ=59.56;MQ0=0;MQRankSum=-0.362;QD=19.64;ReadPosRankSum=-0.765;VQSLOD=3.1293;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,132:227:99:3864,0,2455 2 29404441 29404441 G A exonic CLIP4 synonymous SNV CLIP4:NM_001287527:exon16:c.G1800A:p.S600S,CLIP4:NM_024692:exon16:c.G1800A:p.S600S 0.02 0.0015 0.033 . 0.036 0.042 0.0416 0.0069 0.0165 0.0003 0.0357 0.0534 0.0388 0.0640 0.035 0.0082 0.05 0.022 0.041 rs35300134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0376 0.0069 0.0157 0.0290 0.0003 0.0354 0.0518 0.0428 0.0501 0.0303 0.0087 0.0179 0.0166 0.0006 0.0332 0.0463 0.0305 het 1009.48 83 2 29404441 . G A 1009.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.746;DP=83;Dels=0.00;FS=0.936;HRun=3;HaplotypeScore=0.8321;MQ=58.36;MQ0=0;MQRankSum=-0.014;QD=12.16;ReadPosRankSum=-0.105;VQSLOD=5.1725;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,40:83:99:1039,0,1115 2 29416366 29416366 G C exonic ALK nonsynonymous SNV ALK:NM_004304:exon29:c.C4587G:p.D1529E 0.57 0.64 0.57 0.73 0.38 0.51 0.4600 0.6234 0.6717 0.7465 0.4837 0.3576 0.3932 0.4670 0.43 0.61 0.34 0.6 0.27 rs1881421 COSM5653840;COSM3758201 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Neuroblastoma_Susceptibility RCV000119980.4|RCV000316289.1 MedGen|MedGen CN169374|CN239480 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.119 0.191 N 1 0.090 P -0.695 0.019 N 1.7 0.269 T 1.22 0.011 N 0.008 0.000 -0.993 0.319 T 0.000 0.000 T . . . -1.393 0.019 0.003 0.594 0.061 0.000 0.004 N c -1.813 -1.750 0.923 0.267 0.487 0.133 0 -3.42 0.045 -0.102 0.108 -1.050 0.020 0.000 0.063 0.000 0.016 11.802 0.512 . . . 0.4677 0.6265 0.6611 0.3056 0.7455 0.4887 0.3594 0.4227 0.4589 0.4808 0.6142 0.6055 0.3377 0.7553 0.4851 0.3704 0.4510 het 2977.87 250 2 29416366 . G C 2977.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.699;DP=250;DS;Dels=0.00;FS=14.506;HRun=0;HaplotypeScore=3.4264;MQ=59.11;MQ0=0;MQRankSum=0.126;QD=11.91;ReadPosRankSum=0.799;VQSLOD=3.2784;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:142,108:250:99:3008,0,4255 2 29416572 29416572 T C exonic ALK nonsynonymous SNV ALK:NM_004304:exon29:c.A4381G:p.I1461V 0.99 0.97 1. 1. 1. 1. 0.9972 0.9701 0.9990 1 1 0.9997 0.9989 1 0.99 0.97 1. 1. 0.99 rs1670283 . . Benign|Benign not_specified|Neuroblastoma_Susceptibility RCV000119976.4|RCV000390907.1 MedGen|MedGen CN169374|CN239480 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.683 0.061 N 1 0.090 P -1.1 0.010 N -0.89 0.748 T 0.37 0.036 N 0.012 0.001 -0.987 0.333 T 0.000 0.000 T . . . -2.014 0.008 0.001 0.529 0.047 0.005 0.023 N c -1.265 -1.247 0.774 0.237 0.487 0.133 0 -0.134 0.128 -0.984 0.038 -1.039 0.021 0.000 0.063 0.001 0.043 8.386 0.315 . . . 0.9976 0.9677 0.9990 0.9960 1 1 0.9998 0.9984 1 0.9907 0.9680 0.9940 0.9934 1 1 0.9999 0.9990 hom 5264.67 169 2 29416572 . T C 5264.67 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7333;MQ=59.78;MQ0=0;QD=31.15;VQSLOD=8.9232;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5264,409,0 2 29416615 29416615 G A exonic ALK synonymous SNV ALK:NM_004304:exon29:c.C4338T:p.T1446T 0.059 0.078 0.065 0.001 0.12 0.024 0.0936 0.0899 0.0501 0.0005 0.1637 0.1178 0.0835 0.0417 0.1 0.085 0.11 0.054 0.15 rs56132472 COSM5019786 6(soft_tissue) Benign|Likely benign not_specified|Neuroblastoma_Susceptibility RCV000244172.2|RCV000390900.1 MedGen|MedGen CN169374|CN239480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0935 0.0882 0.0527 0.1192 0.0002 0.1625 0.1193 0.1041 0.0397 0.1139 0.0871 0.0501 0.1060 0 0.1580 0.1341 0.1334 het 2128.10 163 2 29416615 . G A 2128.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.066;DP=163;Dels=0.00;FS=2.802;HRun=0;HaplotypeScore=4.0689;MQ=59.40;MQ0=0;MQRankSum=2.130;QD=13.06;ReadPosRankSum=-0.032;VQSLOD=4.6511;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,83:163:99:2158,0,2096 2 29455267 29455267 A G exonic ALK synonymous SNV ALK:NM_004304:exon15:c.T2535C:p.G845G 0.5 0.53 0.55 0.17 0.72 0.52 0.6121 0.5413 0.4366 0.1747 0.6628 0.7108 0.6916 0.5849 0.66 0.55 0.72 0.51 0.73 rs2256740 COSM148825 1(bone);1(stomach);19(soft_tissue) Benign|Benign not_specified|Neuroblastoma_Susceptibility RCV000247134.2|RCV000296991.1 MedGen|MedGen CN169374|CN239480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6083 0.5413 0.4449 0.7995 0.1770 0.6519 0.7089 0.6467 0.5969 0.6208 0.5538 0.4880 0.7583 0.1811 0.6663 0.7009 0.6288 het 1309.68 101 2 29455267 . A G 1309.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.149;DP=101;Dels=0.00;FS=0.787;HRun=0;HaplotypeScore=3.6149;MQ=59.77;MQ0=0;MQRankSum=1.300;QD=12.97;ReadPosRankSum=-0.050;VQSLOD=5.7599;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,49:101:99:1340,0,1289 2 29543663 29543663 T C exonic ALK synonymous SNV ALK:NM_004304:exon7:c.A1500G:p.Q500Q 0.78 0.43 0.88 0.92 0.92 0.86 0.8716 0.5129 0.8879 0.9081 0.9187 0.9170 0.9130 0.8628 0.79 0.53 0.92 0.69 0.89 rs2293564 COSM4133810 1(thyroid) Benign|Benign not_specified|Neuroblastoma_Susceptibility RCV000244976.2|RCV000281550.1 MedGen|MedGen CN169374|CN239480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8783 0.5003 0.8845 0.8964 0.9073 0.9147 0.9182 0.8970 0.8627 0.8023 0.5071 0.8771 0.8808 0.9086 0.9241 0.9216 0.8939 het 3976.27 248 2 29543663 . T C 3976.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.420;DP=248;DS;Dels=0.00;FS=3.642;HRun=0;HaplotypeScore=9.7188;MQ=58.80;MQ0=0;MQRankSum=0.649;QD=16.03;ReadPosRankSum=-0.334;VQSLOD=3.8114;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,120:248:99:3331,0,3480 2 29940529 29940529 A T exonic ALK synonymous SNV ALK:NM_004304:exon2:c.T702A:p.P234P 0.59 0.15 0.69 0.78 0.79 0.7 0.7335 0.2422 0.7238 0.7604 0.7449 0.8111 0.7753 0.7153 0.63 0.27 0.81 0.6 0.77 rs2246745 COSM4416269 1(haematopoietic_and_lymphoid_tissue) Likely benign\x2cBenign|Benign Neuroblastoma_3\x2cnot_specified|Neuroblastoma_Susceptibility RCV000226929.2\x2cRCV000249360.2|RCV000302546.1 MedGen:OMIM\x2cMedGen|MedGen C2751681:613014\x2cCN169374|CN239480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7417 0.2304 0.7295 0.8208 0.7450 0.7457 0.8137 0.7797 0.7114 0.6361 0.2397 0.7224 0.7881 0.7342 0.7362 0.8163 0.7633 hom 4321.62 144 2 29940529 . A T 4321.62 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5317;MQ=59.20;MQ0=0;QD=30.01;VQSLOD=7.9933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4321,337,0 2 30975961 30975961 G T exonic CAPN13 nonsynonymous SNV CAPN13:NM_144575:exon10:c.C1045A:p.Q349K 0.057 0.0091 0.084 . 0.18 0.035 0.1214 0.0307 0.0584 0 0.1625 0.1769 0.1180 0.0419 0.14 0.034 0.19 0.054 . rs62142192 . . . . . . . . . . . . . 0.496 0.078 T 0.316 0.311 B 0.081 0.275 B 0.000 0.002 N 1 0.090 P 1.545 0.392 L -2.2 0.869 D -1.43 0.352 N 0.185 0.226 -0.979 0.351 T 0.002 0.006 T . . . 0.882 0.178 9.961 0.364 0.023 0.080 0.138 N c -0.600 -0.613 0.048 0.148 0.615 0.372 0 3.44 0.383 1.063 0.300 0.135 0.219 0.035 0.205 0.022 0.137 7.158 0.247 Peptidase C2\x2c calpain\x2c large subunit\x2c domain III . . 0.1224 0.0283 0.0709 0.1369 0.0001 0.1522 0.1843 0.1328 0.0412 0.1269 0.0288 0.0800 0.1325 0.0012 0.1586 0.1913 0.1497 hom 8079.73 239 2 30975961 . G T 8079.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.016;DP=239;DS;Dels=0.00;FS=2.651;HRun=3;HaplotypeScore=8.4535;MQ=59.69;MQ0=0;MQRankSum=-0.088;QD=33.81;ReadPosRankSum=0.316;VQSLOD=2.5862;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,236:239:99:7997,593,0 2 31178818 31178818 C T exonic GALNT14 synonymous SNV GALNT14:NM_001329097:exon5:c.G492A:p.K164K,GALNT14:NM_024572:exon5:c.G492A:p.K164K,GALNT14:NM_001253826:exon6:c.G507A:p.K169K,GALNT14:NM_001329095:exon6:c.G387A:p.K129K,GALNT14:NM_001253827:exon7:c.G432A:p.K144K,GALNT14:NM_001329096:exon7:c.G432A:p.K144K 0.13 0.057 0.11 0.2 0.15 0.14 0.1541 0.0601 0.0738 0.2059 0.1843 0.1758 0.1960 0.1406 0.13 0.064 0.17 0.11 0.24 rs2288100 COSM3758205 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1530 0.0601 0.0770 0.2763 0.2018 0.1856 0.1666 0.1645 0.1404 0.1358 0.0640 0.0800 0.3013 0.1837 0.1787 0.1599 0.1704 het 4010.70 241 2 31178818 . C T 4010.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.230;DP=241;DS;Dels=0.00;FS=0.590;HRun=2;HaplotypeScore=3.7216;MQ=59.90;MQ0=0;MQRankSum=0.053;QD=16.64;ReadPosRankSum=0.345;VQSLOD=5.7666;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:123,118:241:99:3345,0,3623 2 31562412 31562412 C T exonic XDH synonymous SNV XDH:NM_000379:exon34:c.G3717A:p.E1239E 0.04 0.051 0.026 0.0079 0.048 0.06 0.0510 0.0571 0.0222 0.0045 0.0390 0.0566 0.0430 0.0742 0.061 0.056 0.064 0.033 0.074 rs207440 COSM3758211 1(thyroid);1(large_intestine) Benign|Likely benign not_specified|Xanthinuria RCV000253683.1|RCV000385518.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0010934:C0220988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0491 0.0565 0.0214 0.0431 0.0039 0.0384 0.0595 0.0478 0.0734 0.0496 0.0548 0.0239 0.0430 0.0019 0.0401 0.0552 0.0530 het 1470.31 134 2 31562412 . C T 1470.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.373;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6669;MQ=59.05;MQ0=0;MQRankSum=0.881;QD=10.97;ReadPosRankSum=-0.455;VQSLOD=5.3789;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,59:134:99:1500,0,1984 2 31571786 31571786 A G exonic XDH synonymous SNV XDH:NM_000379:exon27:c.T3030C:p.F1010F 0.8 0.77 0.76 0.85 0.79 0.84 0.7863 0.7938 0.7465 0.8534 0.7608 0.7722 0.7903 0.8417 0.77 0.8 0.76 0.79 0.71 rs1884725 . . Benign|Benign not_specified|Xanthinuria RCV000253979.1|RCV000269283.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0010934:C0220988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7831 0.7931 0.7457 0.8220 0.8524 0.7583 0.7683 0.7687 0.8415 0.7722 0.7834 0.7351 0.8013 0.8552 0.7491 0.7642 0.7633 het 556.12 40 2 31571786 . A G 556.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.548;DP=40;Dels=0.02;FS=9.593;HRun=0;HaplotypeScore=2.7983;MQ=60.00;MQ0=0;MQRankSum=1.944;QD=13.56;ReadPosRankSum=0.476;VQSLOD=4.1125;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,22:40:99:586,0,466 2 31589847 31589847 G A exonic XDH synonymous SNV XDH:NM_000379:exon21:c.C2211T:p.I737I 0.27 0.07 0.37 0.33 0.3 0.37 0.3037 0.0851 0.4070 0.3487 0.3190 0.3010 0.2952 0.3506 0.23 0.093 0.31 0.22 0.17 rs2295475 COSM3758212 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Xanthinuria RCV000249202.1|RCV000315915.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0010934:C0220988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3096 0.0814 0.3965 0.2433 0.3414 0.3094 0.3049 0.3024 0.3504 0.2469 0.0839 0.3663 0.2185 0.3517 0.2996 0.3080 0.3098 het 1840.59 165 2 31589847 . G A 1840.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.051;DP=165;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9568;MQ=59.45;MQ0=0;MQRankSum=0.180;QD=11.16;ReadPosRankSum=0.397;VQSLOD=6.7490;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,70:165:99:1871,0,2600 2 31805880 31805880 - G exonic;splicing SRD5A2;SRD5A2 NM_000348:exon1:c.89+1->C unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 0.9999 1 1 1 1 0.9999 1. 1. 1. 0.076 . rs142200057 COSN20096454;COSN20096453;COSN1082798 2(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 1.0000 1 0.9999 1 1 1 1 1 1 1 1 hom 1980.47 49 2 31805880 . A AG 1980.47 Mask AC=2;AF=1.00;AN=2;DP=49;FS=0.000;HRun=2;HaplotypeScore=108.1491;MQ=60.94;MQ0=0;QD=40.42;set=variant2 GT:AD:DP:GQ:PL 1/1:2,47:49:99:2023,141,0 2 32667182 32667182 G C exonic BIRC6 nonsynonymous SNV BIRC6:NM_016252:exon18:c.G3994C:p.V1332L 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. . rs60197615 COSM4591362;COSM4591363 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2898.07 96 2 32667182 . G C 2898.07 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=58.98;MQ0=0;QD=30.19;VQSLOD=8.3650;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2931,223,0 2 32822957 32822957 G A exonic BIRC6 synonymous SNV BIRC6:NM_016252:exon69:c.G13752A:p.T4584T 0.33 0.32 0.37 0.3 0.43 0.26 0.3792 0.3148 0.3239 0.2637 0.4271 0.4247 0.4228 0.3130 0.39 0.32 0.42 0.38 . rs2710625 COSM148834;COSM148835 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3782 0.3117 0.3293 0.4050 0.2584 0.4277 0.4261 0.3830 0.3136 0.3743 0.3102 0.3273 0.4106 0.2438 0.4364 0.4138 0.3633 het 607.29 63 2 32822957 . G A 607.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.066;DP=63;Dels=0.00;FS=1.026;HRun=0;HaplotypeScore=1.8490;MQ=59.41;MQ0=0;MQRankSum=0.447;QD=9.64;ReadPosRankSum=-0.022;VQSLOD=6.7635;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,26:63:99:637,0,900 2 32855615 32855615 A G exonic TTC27 synonymous SNV TTC27:NM_017735:exon2:c.A114G:p.L38L 0.99 0.95 1. 1. 1. 1. 0.9969 0.9665 0.9988 1 1 0.9997 1 0.9999 0.99 0.97 1. 0.99 0.89 rs2710623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9975 0.9667 0.9984 0.9972 1 1 0.9998 0.9985 1.0000 0.9901 0.9654 0.9988 0.9934 1 1 0.9999 1 hom 2480.39 87 2 32855615 . A G 2480.39 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.41;MQ0=0;QD=28.51;VQSLOD=8.6051;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2513,190,0 2 32983526 32983526 C T exonic TTC27 synonymous SNV TTC27:NM_001193509:exon13:c.C1470T:p.N490N,TTC27:NM_017735:exon13:c.C1620T:p.N540N 0.29 0.15 0.37 0.37 0.41 0.23 0.3617 0.1874 0.3179 0.3465 0.5122 0.4059 0.3943 0.2691 0.34 0.21 0.41 0.28 0.42 rs2273665 COSM148836 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3655 0.1871 0.3214 0.3209 0.3507 0.5081 0.4062 0.3751 0.2723 0.3566 0.1887 0.3258 0.3477 0.3373 0.5189 0.4167 0.4151 het 1239.81 95 2 32983526 . C T 1239.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.003;DP=95;Dels=0.00;FS=5.635;HRun=0;HaplotypeScore=5.6499;MQ=59.54;MQ0=0;MQRankSum=0.622;QD=13.05;ReadPosRankSum=1.262;VQSLOD=4.7630;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,48:95:99:1270,0,1413 2 33412077 33412077 G A exonic LTBP1 synonymous SNV LTBP1:NM_000627:exon2:c.G378A:p.A126A,LTBP1:NM_001166264:exon2:c.G378A:p.A126A,LTBP1:NM_001166265:exon2:c.G378A:p.A126A,LTBP1:NM_001166266:exon2:c.G378A:p.A126A,LTBP1:NM_206943:exon6:c.G1356A:p.A452A 0.37 0.27 0.45 0.37 0.48 0.32 0.4592 0.3240 0.4813 0.3930 0.5585 0.5013 0.4119 0.3565 0.44 0.33 0.5 0.38 0.4 rs1065324 COSM4001651;COSM4001652 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4611 0.3152 0.4813 0.4302 0.4 0.5525 0.4989 0.4562 0.3534 0.4566 0.3206 0.4569 0.41 0.3837 0.5607 0.5182 0.4878 hom 3178.07 101 2 33412077 . G A 3178.07 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=59.63;MQ0=0;QD=31.47;VQSLOD=9.3921;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3211,253,0 2 33447202 33447202 C T exonic LTBP1 synonymous SNV LTBP1:NM_000627:exon5:c.C882T:p.N294N,LTBP1:NM_001166264:exon5:c.C882T:p.N294N,LTBP1:NM_001166265:exon5:c.C882T:p.N294N,LTBP1:NM_001166266:exon5:c.C882T:p.N294N,LTBP1:NM_206943:exon9:c.C1860T:p.N620N 0.33 0.19 0.43 0.33 0.49 0.29 0.4312 0.2262 0.4111 0.3452 0.5557 0.4905 0.4128 0.3315 0.4 0.23 0.49 0.3 0.42 rs2290448 COSM4001656;COSM4001655 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4344 0.2228 0.4105 0.4616 0.3487 0.5481 0.4867 0.4516 0.3299 0.4223 0.2338 0.3986 0.4404 0.3368 0.5525 0.5084 0.4703 hom 2074.70 71 2 33447202 . C T 2074.70 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.82;MQ0=0;QD=29.22;VQSLOD=8.6810;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2108,166,0 2 33488419 33488419 G A exonic LTBP1 synonymous SNV LTBP1:NM_000627:exon11:c.G1599A:p.T533T,LTBP1:NM_001166264:exon11:c.G1599A:p.T533T,LTBP1:NM_001166265:exon11:c.G1440A:p.T480T,LTBP1:NM_001166266:exon11:c.G1440A:p.T480T,LTBP1:NM_206943:exon15:c.G2577A:p.T859T 0.17 0.017 0.18 0.24 0.29 0.17 0.2462 0.0545 0.1842 0.2546 0.3319 0.2936 0.2698 0.1790 0.21 0.063 0.29 0.16 0.26 rs12468099 COSM4001658;COSM4001657 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2485 0.0490 0.1869 0.2952 0.2557 0.3268 0.2907 0.2600 0.1842 0.2280 0.0563 0.2029 0.2649 0.2618 0.3185 0.3029 0.2444 het 2667.76 232 2 33488419 . G A 2667.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.880;DP=232;Dels=0.00;FS=2.951;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;MQRankSum=-1.047;QD=11.50;ReadPosRankSum=-0.680;VQSLOD=6.1343;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,117:232:99:2698,0,2880 2 33540248 33540248 G A exonic LTBP1 synonymous SNV LTBP1:NM_000627:exon20:c.G2664A:p.P888P,LTBP1:NM_001166264:exon20:c.G2664A:p.P888P,LTBP1:NM_001166265:exon20:c.G2505A:p.P835P,LTBP1:NM_001166266:exon20:c.G2505A:p.P835P,LTBP1:NM_206943:exon24:c.G3642A:p.P1214P 0.46 0.32 0.63 0.31 0.65 0.5 0.6003 0.3696 0.6386 0.3349 0.7855 0.6577 0.6079 0.5511 0.56 0.37 0.65 0.39 0.64 rs1058840 COSM4001660;COSM4001659 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6057 0.3628 0.6285 0.5522 0.3356 0.7756 0.6600 0.6028 0.5491 0.5885 0.3751 0.6098 0.5497 0.3245 0.7755 0.6915 0.6738 hom 2213.26 72 2 33540248 . G A 2213.26 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.74;MQ0=0;QD=30.74;VQSLOD=9.0979;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:72:99:2246,181,0 2 33585796 33585796 T C exonic LTBP1 nonsynonymous SNV LTBP1:NM_001166264:exon22:c.T3029C:p.V1010A,LTBP1:NM_001166266:exon22:c.T2870C:p.V957A,LTBP1:NM_000627:exon23:c.T3155C:p.V1052A,LTBP1:NM_001166265:exon23:c.T2996C:p.V999A,LTBP1:NM_206943:exon27:c.T4133C:p.V1378A 1. 1. 1. 1. 1. 1. 0.9999 0.9999 1 1 1 0.9999 1 1 1. 1. 1. 1. 1. rs4422143 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.855 0.284 P -2.52 0.001 N -2.9 0.917 D 3.02 0.002 N 0.192 0.259 -0.934 0.435 T 0.000 0.000 T . . . 0.276 0.120 5.454 0.206 0.007 0.251 0.224 N c -1.071 -0.857 1.000 0.747 0.707 0.730 0 4.89 0.632 4.007 0.566 0.016 0.142 0.999 0.424 0.303 0.238 13.716 0.620 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain;EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|Growth factor receptor cysteine-rich domain;TB domain . . 0.9999 0.9999 1 1 1 1 0.9999 0.9998 1 1.0000 1 1 1 1 1 0.9999 1 hom 3491.96 115 2 33585796 . T C 3491.96 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=59.40;MQ0=0;QD=30.36;VQSLOD=8.6096;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3491,292,0 2 33759395 33759395 C T exonic RASGRP3 synonymous SNV RASGRP3:NM_015376:exon10:c.C1089T:p.S363S,RASGRP3:NM_001139488:exon11:c.C1089T:p.S363S,RASGRP3:NM_001349976:exon11:c.C1089T:p.S363S,RASGRP3:NM_001349979:exon11:c.C1089T:p.S363S,RASGRP3:NM_001349981:exon11:c.C1089T:p.S363S,RASGRP3:NM_001349977:exon12:c.C1089T:p.S363S,RASGRP3:NM_001349978:exon12:c.C1089T:p.S363S,RASGRP3:NM_001349980:exon12:c.C1089T:p.S363S,RASGRP3:NM_170672:exon12:c.C1089T:p.S363S,RASGRP3:NM_001349975:exon13:c.C1089T:p.S363S 0.088 0.048 0.19 0.006 0.15 0.089 0.1559 0.0669 0.2574 0.0066 0.2573 0.1700 0.1541 0.1214 0.12 0.055 0.15 0.13 . rs35933402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1373 0.0538 0.2099 0.1001 0.0051 0.2274 0.1428 0.1427 0.1002 0.1357 0.0558 0.1978 0.1 0.0025 0.2337 0.1684 0.1755 het 311.97 23 2 33759395 . C T 311.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.341;DP=23;Dels=0.00;FS=4.775;HRun=0;HaplotypeScore=0.5784;MQ=58.36;MQ0=0;MQRankSum=0.713;QD=13.56;ReadPosRankSum=1.830;VQSLOD=4.6158;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,13:23:99:342,0,260 2 33764176 33764176 A G exonic RASGRP3 nonsynonymous SNV RASGRP3:NM_015376:exon11:c.A1174G:p.T392A,RASGRP3:NM_001139488:exon12:c.A1177G:p.T393A,RASGRP3:NM_001349976:exon12:c.A1177G:p.T393A,RASGRP3:NM_001349979:exon12:c.A1174G:p.T392A,RASGRP3:NM_001349981:exon12:c.A1174G:p.T392A,RASGRP3:NM_001349977:exon13:c.A1177G:p.T393A,RASGRP3:NM_001349978:exon13:c.A1174G:p.T392A,RASGRP3:NM_001349980:exon13:c.A1174G:p.T392A,RASGRP3:NM_170672:exon13:c.A1177G:p.T393A,RASGRP3:NM_001349975:exon14:c.A1177G:p.T393A 0.052 0.0053 0.16 0.006 0.041 0.1 0.0756 0.0139 0.2706 0.0098 0.0244 0.0564 0.0604 0.1110 0.033 0.011 0.043 0.065 . rs13388394 . . . . . . . . . . . . . 0.452 0.089 T 0.131 0.256 B 0.145 0.322 B 0.000 0.843 D 0.005 0.426 P -0.205 0.041 N 1.16 0.381 T -0.82 0.255 N 0.215 0.319 -1.065 0.104 T 0.002 0.005 T . . . 1.432 0.235 12.96 0.987 0.447 0.973 0.738 D c -0.084 0.056 0.997 0.353 0.707 0.730 0 5.8 0.921 7.035 0.761 1.088 0.866 0.999 0.424 0.303 0.238 16.142 0.813 Ras guanine nucleotide exchange factor domain . . 0.0587 0.0088 0.1833 0.0523 0.0056 0.0154 0.0392 0.0552 0.0835 0.0315 0.0095 0.1559 0.0397 0.0062 0.0184 0.0416 0.0527 het 254.36 18 2 33764176 . A G 254.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.384;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9976;MQ=58.71;MQ0=0;MQRankSum=-0.971;QD=14.13;ReadPosRankSum=-1.325;VQSLOD=5.5791;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:284,0,182 2 36704144 36704144 C T exonic CRIM1 synonymous SNV CRIM1:NM_016441:exon6:c.C1104T:p.T368T 0.61 0.5 0.74 0.68 0.5 0.73 0.5731 0.5158 0.7918 0.6913 0.4621 0.5031 0.5683 0.7217 0.52 0.52 0.51 0.67 0.51 rs848547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5788 0.5163 0.7819 0.4505 0.6825 0.4686 0.5069 0.5526 0.7166 0.5180 0.5271 0.7458 0.4733 0.6731 0.4479 0.4999 0.5265 het 2015.87 121 2 36704144 . C T 2015.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.762;DP=121;DS;Dels=0.00;FS=2.301;HRun=0;HaplotypeScore=7.7270;MQ=59.50;MQ0=0;MQRankSum=2.045;QD=16.66;ReadPosRankSum=-1.505;VQSLOD=3.4477;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,69:121:99:2046,0,1302 2 37230728 37230728 T C exonic HEATR5B synonymous SNV HEATR5B:NM_019024:exon31:c.A5007G:p.V1669V 0.18 0.0061 0.16 0.53 0.086 0.17 0.1300 0.0214 0.2084 0.4959 0.1129 0.0831 0.1519 0.1472 0.058 0.021 0.077 0.2 0.066 rs1007823 COSM148839 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1328 0.0183 0.1892 0.0865 0.4952 0.1150 0.0806 0.1285 0.1444 0.0907 0.0174 0.1802 0.0695 0.4938 0.1114 0.0794 0.1059 het 1023.07 88 2 37230728 . T C 1023.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.754;DP=88;Dels=0.00;FS=1.751;HRun=0;HaplotypeScore=1.8907;MQ=57.59;MQ0=1;MQRankSum=0.999;QD=11.63;ReadPosRankSum=0.599;VQSLOD=5.0849;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,42:88:99:1053,0,1008 2 37230734 37230734 C T exonic HEATR5B synonymous SNV HEATR5B:NM_019024:exon31:c.G5001A:p.Q1667Q 0.13 0.23 0.13 0.024 0.15 0.081 0.1331 0.1973 0.0678 0.0105 0.1537 0.1578 0.1294 0.0948 0.18 0.21 0.16 0.22 0.22 rs17497654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1306 0.2007 0.0739 0.2049 0.0096 0.1483 0.1562 0.1282 0.0964 0.1635 0.2023 0.0811 0.2086 0.0136 0.1503 0.1637 0.1663 het 916.65 88 2 37230734 . C T 916.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.687;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8865;MQ=57.59;MQ0=1;MQRankSum=1.286;QD=10.42;ReadPosRankSum=0.166;VQSLOD=4.2643;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,43:88:99:947,0,1089 2 37241050 37241050 G A exonic HEATR5B synonymous SNV HEATR5B:NM_019024:exon27:c.C4218T:p.S1406S 0.26 0.048 0.27 0.53 0.19 0.33 0.2357 0.0805 0.3173 0.4939 0.2294 0.1964 0.2660 0.3013 0.15 0.076 0.18 0.24 0.14 rs17020125 COSM4133825 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2376 0.0778 0.2978 0.1567 0.4939 0.2229 0.1951 0.2283 0.3026 0.1819 0.0785 0.2828 0.1556 0.4913 0.2148 0.1937 0.2152 het 2245.01 169 2 37241050 . G A 2245.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.158;DP=169;Dels=0.00;FS=1.196;HRun=0;HaplotypeScore=4.5721;MQ=59.67;MQ0=0;MQRankSum=-0.413;QD=13.28;ReadPosRankSum=-2.086;VQSLOD=4.9130;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,84:169:99:2275,0,2425 2 37306343 37306343 G A exonic HEATR5B synonymous SNV HEATR5B:NM_019024:exon3:c.C258T:p.F86F 0.93 0.75 0.97 1. 1. 1. 0.9795 0.7782 0.9896 1 1 0.9993 0.9855 0.9997 0.92 0.78 1. 0.92 0.8 rs6743906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9833 0.7680 0.9885 0.9994 1 1 0.9991 0.9912 0.9995 0.9321 0.7635 0.9857 1 1 1 0.9991 0.9836 hom 487.19 18 2 37306343 . G A 487.19 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.07;VQSLOD=13.2436;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:39.13:520,39,0 2 37438993 37438993 G A exonic CEBPZ synonymous SNV CEBPZ:NM_005760:exon12:c.C2793T:p.S931S 0.32 0.26 0.37 0.35 0.43 0.23 0.3805 0.2771 0.2967 0.4107 0.4611 0.4201 0.3894 0.2786 0.36 0.28 0.4 0.3 0.24 rs1137437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3645 0.2718 0.2926 0.4699 0.4007 0.4557 0.3974 0.3855 0.2333 0.3675 0.2785 0.2971 0.5033 0.4035 0.4622 0.3920 0.4053 het 355.23 36 2 37438993 . G A 355.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.454;DP=36;Dels=0.00;FS=9.770;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;MQRankSum=-1.098;QD=9.87;ReadPosRankSum=-1.035;VQSLOD=4.0560;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,16:36:99:385,0,520 2 37456032 37456032 C T exonic CEBPZ nonsynonymous SNV CEBPZ:NM_005760:exon2:c.G304A:p.V102I 0.94 0.99 0.95 1. 0.85 0.89 0.8788 0.9698 0.9578 0.9995 0.8399 0.8440 0.8848 0.8594 0.88 0.96 0.84 0.97 0.61 rs2098386 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.474 0.049 N 1 0.090 P -0.975 0.012 N 4.32 0.024 T 0.01 0.069 N 0.01 0.001 -1.018 0.243 T 0.000 0.000 T . . . -2.732 0.002 0.001 0.459 0.036 0.172 0.195 N c -1.546 -1.493 1.000 0.422 0.732 0.924 0 -1.81 0.074 0.713 0.253 -0.215 0.099 0.000 0.063 0.472 0.266 3.633 0.076 . . . 0.8805 0.9727 0.9504 0.9244 0.9995 0.8408 0.8382 0.8863 0.8588 0.8860 0.9724 0.9427 0.9205 0.9994 0.8427 0.8320 0.8513 hom 1567.41 51 2 37456032 . C T 1567.41 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;QD=30.73;VQSLOD=9.3936;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1600,126,0 2 37518045 37518045 G C exonic PRKD3 synonymous SNV PRKD3:NM_005813:exon3:c.C525G:p.L175L 0.31 0.17 0.33 0.41 0.43 0.24 0.3625 0.1800 0.2798 0.4538 0.4834 0.4122 0.3722 0.2383 0.33 0.19 0.4 0.32 0.26 rs10177176 COSM4001668;COSM4001667 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3655 0.1758 0.2837 0.4794 0.4480 0.4867 0.4017 0.3915 0.2424 0.3477 0.1806 0.3031 0.5066 0.4505 0.4911 0.3956 0.4114 het 1868.30 121 2 37518045 . G C 1868.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.945;DP=121;Dels=0.01;FS=1.518;HRun=0;HaplotypeScore=6.7163;MQ=58.76;MQ0=0;MQRankSum=0.344;QD=15.31;ReadPosRankSum=0.060;VQSLOD=4.5948;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:51,70:121:99:1898,0,1230 2 38178406 38178406 A G exonic RMDN2 synonymous SNV RMDN2:NM_144713:exon2:c.A48G:p.R16R 0.33 0.22 0.38 0.088 0.46 0.55 0.4304 0.2657 0.3939 0.1008 0.3802 0.4771 0.4140 0.5729 0.41 0.28 0.48 0.37 0.43 rs4670799 COSM4133833 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4239 0.2620 0.3971 0.3358 0.0953 0.3725 0.4887 0.4212 0.5467 0.3816 0.2649 0.4067 0.33 0.0840 0.3852 0.4779 0.4201 het 756.93 57 2 38178406 . A G 756.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.169;DP=57;Dels=0.00;FS=5.572;HRun=1;HaplotypeScore=0.9987;MQ=59.34;MQ0=0;MQRankSum=0.120;QD=13.28;ReadPosRankSum=-0.551;VQSLOD=5.9433;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,28:57:99:787,0,772 2 38179134 38179134 G A exonic RMDN2 nonsynonymous SNV RMDN2:NM_144713:exon2:c.G776A:p.G259D 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs4670800 COSM4591554 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2312.95 77 2 38179134 . G A 2312.95 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.18;MQ0=0;QD=30.04;VQSLOD=8.0283;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2346,187,0 2 38298139 38298139 T C exonic CYP1B1 nonsynonymous SNV CYP1B1:NM_000104:exon3:c.A1358G:p.N453S 0.1 0.0068 0.13 0.005 0.2 0.2 0.1547 0.0345 0.1173 0.0038 0.1476 0.1813 0.1711 0.2303 0.13 0.033 0.19 0.098 0.2 rs1800440 COSM1408011 8(soft_tissue);1(prostate);1(large_intestine) Benign|Likely benign not_specified|Primary_congenital_glaucoma RCV000153124.4|RCV000296245.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0008007:C1533041 . . . . . . . . . 0.596 0.373 P 0.306 0.395 B 0.000 0.629 D 0.000 0.508 P 2.05 0.567 M . . . . . . 0.013 0.019 -1.072 0.089 T 0.000 0.002 T . . . 4.413 0.591 24.1 0.998 0.871 0.924 0.553 D c 0.378 0.474 1.000 0.747 0.628 0.401 0 5.95 0.964 7.908 0.867 1.061 0.807 1.000 0.715 0.760 0.324 14.376 0.663 . . . 0.1538 0.0305 0.1125 0.1660 0.0033 0.1465 0.1858 0.1625 0.2278 0.1187 0.0355 0.1364 0.1755 0.0031 0.1495 0.1702 0.1214 het 1469.72 111 2 38298139 . T C 1469.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.464;DP=111;Dels=0.00;FS=3.536;HRun=0;HaplotypeScore=2.7877;MQ=58.76;MQ0=0;MQRankSum=1.590;QD=13.24;ReadPosRankSum=-0.072;VQSLOD=5.8687;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,55:111:99:1500,0,1461 2 38298150 38298150 A G exonic CYP1B1 synonymous SNV CYP1B1:NM_000104:exon3:c.T1347C:p.D449D 0.62 0.2 0.73 0.91 0.6 0.83 0.6220 0.2511 0.8058 0.8991 0.6362 0.5681 0.6432 0.7930 0.45 0.25 0.56 0.41 0.51 rs1056837 COSM3758225 1(large_intestine) Benign|Benign|Benign not_specified|Primary_congenital_glaucoma|Peters_anomaly RCV000153125.3|RCV000351205.1|RCV000387120.1 MedGen|Human_Phenotype_Ontology:MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0008007:C1533041|HP:0000659:CN000620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6343 0.2434 0.7859 0.5090 0.9005 0.6356 0.5704 0.6282 0.7860 0.5083 0.2469 0.7584 0.4834 0.8905 0.6354 0.5701 0.5959 het 1297.60 111 2 38298150 . A G 1297.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.506;DP=111;Dels=0.00;FS=5.935;HRun=0;HaplotypeScore=2.9149;MQ=58.76;MQ0=0;MQRankSum=0.646;QD=11.69;ReadPosRankSum=-0.186;VQSLOD=5.3580;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,53:111:99:1328,0,1510 2 38298203 38298203 C G exonic CYP1B1 nonsynonymous SNV CYP1B1:NM_000104:exon3:c.G1294C:p.V432L 0.61 0.18 0.72 0.91 0.6 0.83 0.6195 0.2284 0.8051 0.8970 0.6355 0.5675 0.6432 0.7925 0.45 0.23 0.56 0.41 0.51 rs1056836 COSM1408012 1(large_intestine) Benign|drug response|drug response not_specified|paclitaxel_response_-_Efficacy|docetaxel_response_-_Efficacy RCV000153126.2|RCV000211137.1|RCV000211352.1 MedGen|MedGen|MedGen CN169374|CN236571|CN236527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6319 0.2197 0.7847 0.5069 0.8990 0.6354 0.5695 0.6260 0.7855 0.5025 0.2253 0.7590 0.4834 0.8888 0.6355 0.5710 0.5937 het 1322.60 104 2 38298203 . C G 1322.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.806;DP=104;Dels=0.00;FS=4.915;HRun=0;HaplotypeScore=0.9958;MQ=58.40;MQ0=0;MQRankSum=0.540;QD=12.72;ReadPosRankSum=-0.351;VQSLOD=5.4985;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,51:104:99:1353,0,1488 2 38536626 38536626 T G exonic ATL2 synonymous SNV ATL2:NM_001330458:exon8:c.A453C:p.R151R,ATL2:NM_001330460:exon8:c.A453C:p.R151R,ATL2:NM_001330461:exon8:c.A453C:p.R151R,ATL2:NM_001135673:exon9:c.A966C:p.R322R,ATL2:NM_001308076:exon9:c.A912C:p.R304R,ATL2:NM_001330459:exon9:c.A912C:p.R304R,ATL2:NM_001330462:exon9:c.A951C:p.R317R,ATL2:NM_001330463:exon9:c.A966C:p.R322R,ATL2:NM_001330464:exon9:c.A285C:p.R95R,ATL2:NM_022374:exon9:c.A966C:p.R322R 0.33 0.27 0.33 0.19 0.37 0.5 0.3623 0.2796 0.3327 0.1839 0.3887 0.3710 0.3352 0.4830 0.33 0.27 0.36 0.26 0.27 rs2305243 COSM148845;COSM4415686 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3623 0.2731 0.3398 0.3208 0.1805 0.3926 0.3744 0.3494 0.4835 0.3408 0.2791 0.3377 0.3742 0.1720 0.3809 0.3844 0.3507 het 843.29 72 2 38536626 . T G 843.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.586;DP=72;Dels=0.00;FS=1.002;HRun=0;HaplotypeScore=0.8321;MQ=58.63;MQ0=0;MQRankSum=0.484;QD=11.71;ReadPosRankSum=-0.304;VQSLOD=6.0618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,35:72:99:873,0,918 2 38537579 38537579 T C exonic ATL2 nonsynonymous SNV ATL2:NM_001330458:exon7:c.A302G:p.N101S,ATL2:NM_001330460:exon7:c.A302G:p.N101S,ATL2:NM_001330461:exon7:c.A302G:p.N101S,ATL2:NM_001135673:exon8:c.A815G:p.N272S,ATL2:NM_001308076:exon8:c.A761G:p.N254S,ATL2:NM_001330459:exon8:c.A761G:p.N254S,ATL2:NM_001330462:exon8:c.A800G:p.N267S,ATL2:NM_001330463:exon8:c.A815G:p.N272S,ATL2:NM_001330464:exon8:c.A134G:p.N45S,ATL2:NM_022374:exon8:c.A815G:p.N272S 0.014 0.0045 0.022 . 0.04 0.011 0.0330 0.0094 0.0235 0 0.0166 0.0471 0.0342 0.0214 0.036 0.011 0.049 0.011 0.049 rs34873284 COSM3758226;COSM5829460;COSM3758227 1(large_intestine) . . . . . . . . . . . 0.123 0.275 T 0.021 0.172 B 0.006 0.112 B 0.000 0.843 D 1.000 0.810 D 1.4 0.355 L -0.84 0.743 T -1.42 0.401 N 0.035 0.039 -0.842 0.525 T 0.071 0.290 T . . . 2.077 0.310 16.70 0.992 0.561 0.978 0.770 D c 0.008 0.174 1.000 0.747 0.732 0.924 0 5.11 0.691 6.155 0.714 1.061 0.807 1.000 0.715 0.999 0.750 14.098 0.644 GB1/RHD3-type guanine nucleotide-binding (G) domain|Guanylate-binding protein\x2c N-terminal|P-loop containing nucleoside triphosphate hydrolase . . 0.0320 0.0081 0.0218 0.0361 0 0.0175 0.0479 0.0385 0.0206 0.0275 0.0096 0.0298 0.0331 0.0006 0.0149 0.0433 0.0296 het 678.54 69 2 38537579 . T C 678.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.018;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=58.57;MQ0=0;MQRankSum=0.006;QD=9.83;ReadPosRankSum=-1.158;VQSLOD=6.0102;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,26:69:99:709,0,1074 2 38604351 38604351 A G exonic ATL2 nonsynonymous SNV ATL2:NM_001135673:exon1:c.T52C:p.W18R,ATL2:NM_001330463:exon1:c.T52C:p.W18R,ATL2:NM_022374:exon1:c.T52C:p.W18R 0.49 0.82 0.39 0.2 0.41 0.52 0.4616 0.7658 0.3996 0.2168 0.4843 0.4373 0.4385 0.5270 0.51 0.74 0.39 0.011 0.3 rs3731847 COSM3766582;COSM3766581 1(liver) . . . . . . . . . . . 0.927 0.023 T 0.0 0.026 B 0.0 0.013 B 0.085 0.207 N 1.000 0.588 P 0 0.065 N -1.19 0.839 T 0.33 0.623 N 0.312 0.373 -0.965 0.382 T 0.000 0.000 T . . . 0.241 0.117 5.104 0.479 0.039 0.007 0.030 N c -1.074 -0.946 1.000 0.747 0.442 0.072 0 0.417 0.156 0.355 0.198 -0.423 0.059 0.096 0.225 0.975 0.474 0.609 0.007 GB1/RHD3-type guanine nucleotide-binding (G) domain ENSG00000119787.9|ENSG00000119787.9|ENSG00000119787.9|ENSG00000119787.9|ENSG00000119787.9 Adipose_Subcutaneous|Adrenal_Gland|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.4199 0.7592 0.3711 0.3377 0.1845 0.4397 0.4074 0.4015 0.5092 0.5034 0.7517 0.3878 0.3742 0.1731 0.4326 0.4262 0.4167 het 148.04 19 2 38604351 . A G 148.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.718;DP=19;Dels=0.00;FS=5.161;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.225;QD=7.79;ReadPosRankSum=-0.127;VQSLOD=3.9766;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,7:19:99:178,0,321 2 39025555 39025555 G A exonic DHX57 synonymous SNV DHX57:NM_001329963:exon24:c.C3741T:p.C1247C,DHX57:NM_198963:exon24:c.C4047T:p.C1349C 0.59 0.31 0.58 0.79 0.64 0.7 0.6230 0.3488 0.5650 0.8203 0.6482 0.6328 0.6333 0.6826 0.54 0.36 0.63 0.6 0.65 rs1530853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6261 0.3462 0.5716 0.6609 0.8157 0.6506 0.6287 0.6465 0.6765 0.5602 0.3501 0.5743 0.6126 0.8212 0.6410 0.6271 0.6551 het 1062.55 96 2 39025555 . G A 1062.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.373;DP=96;Dels=0.00;FS=2.783;HRun=0;HaplotypeScore=0.9987;MQ=59.76;MQ0=0;MQRankSum=0.150;QD=11.07;ReadPosRankSum=-0.766;VQSLOD=6.6427;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,46:96:99:1093,0,1375 2 39050141 39050141 A C exonic DHX57 synonymous SNV DHX57:NM_001329963:exon17:c.T2979G:p.S993S,DHX57:NM_198963:exon17:c.T3285G:p.S1095S 0.6 0.33 0.58 0.8 0.66 0.7 0.6356 0.3618 0.5646 0.8340 0.6680 0.6489 0.6330 0.6865 0.56 0.37 0.65 0.59 0.66 rs3770681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6384 0.3578 0.5704 0.6746 0.8268 0.6710 0.6456 0.6620 0.6808 0.5737 0.3607 0.5885 0.6291 0.8313 0.6614 0.6416 0.6605 hom 1823.39 59 2 39050141 . A C 1823.39 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4916;MQ=59.22;MQ0=0;QD=30.90;VQSLOD=9.0418;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1856,147,0 2 39082344 39082344 T C exonic DHX57 nonsynonymous SNV DHX57:NM_001329963:exon8:c.A1454G:p.N485S,DHX57:NM_198963:exon8:c.A1760G:p.N587S 0.59 0.3 0.57 0.8 0.63 0.72 0.6221 0.3277 0.5504 0.8340 0.6337 0.6340 0.6145 0.6949 0.54 0.35 0.63 0.61 0.62 rs7598922 . . . . . . . . . . . . . . . . 0.002 0.090 B 0.004 0.112 B 0.238 0.158 N 0.998 0.224 P 0.055 0.082 N . . . . . . 0.012 0.001 -1.097 0.044 T 0.000 0.000 T . . . 0.054 0.099 3.119 0.891 0.180 0.310 0.240 N c -0.819 -0.674 0.085 0.160 0.732 0.924 0 1.59 0.225 0.609 0.238 0.141 0.225 0.123 0.230 0.997 0.653 9.195 0.362 DEAD/DEAH box helicase domain|Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000163214.16|ENSG00000163214.16|ENSG00000143889.11|ENSG00000163214.16|ENSG00000223922.1|ENSG00000163214.16|ENSG00000163214.16 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Liver|Lung|Skin_Sun_Exposed_Lower_leg 0.6247 0.3259 0.5592 0.6518 0.8285 0.6347 0.6303 0.6424 0.6913 0.5529 0.3300 0.5694 0.5993 0.8331 0.6307 0.6261 0.6448 het 2865.99 218 2 39082344 . T C 2865.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.022;DP=218;DS;Dels=0.00;FS=1.280;HRun=0;HaplotypeScore=2.6594;MQ=59.45;MQ0=0;MQRankSum=-1.275;QD=13.15;ReadPosRankSum=-0.621;VQSLOD=6.1158;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:119,99:218:99:2896,0,3183 2 39507417 39507417 T A exonic MAP4K3 synonymous SNV MAP4K3:NM_001270425:exon22:c.A1647T:p.T549T,MAP4K3:NM_003618:exon23:c.A1710T:p.T570T 0.63 0.2 0.74 0.8 0.85 0.72 0.7717 0.3043 0.7319 0.8097 0.8801 0.8441 0.8389 0.7334 0.67 0.32 0.84 0.58 0.8 rs3755176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7827 0.2935 0.7309 0.7959 0.8099 0.8830 0.8469 0.8127 0.7441 0.7009 0.3119 0.7440 0.8245 0.7862 0.8753 0.8643 0.8224 hom 2085.87 78 2 39507417 . T A 2085.87 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.76;MQ0=0;QD=26.74;VQSLOD=6.6835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2119,160,0 2 39583446 39583446 A G exonic MAP4K3 synonymous SNV MAP4K3:NM_001270425:exon3:c.T189C:p.I63I,MAP4K3:NM_003618:exon3:c.T189C:p.I63I 0.69 0.32 0.74 0.85 0.9 0.79 0.8230 0.4026 0.7126 0.8526 0.9261 0.8988 0.8811 0.7990 0.73 0.42 0.9 0.65 0.89 rs8545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8285 0.3934 0.7145 0.8800 0.8535 0.9252 0.8993 0.8555 0.8011 0.7609 0.4067 0.7368 0.8940 0.8350 0.9224 0.9124 0.8735 hom 5701.65 191 2 39583446 . A G 5701.65 Mask AC=2;AF=1.00;AN=2;DP=191;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7760;MQ=58.53;MQ0=0;QD=29.85;VQSLOD=8.5414;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,189:191:99:5665,433,0 2 42510018 42510018 A G exonic EML4 nonsynonymous SNV EML4:NM_001145076:exon7:c.A673G:p.K225E,EML4:NM_019063:exon8:c.A847G:p.K283E 1. 1. 0.99 1. 0.99 1. 0.9905 0.9969 0.9962 0.9999 0.9803 0.9864 0.9912 0.9980 0.99 1. 0.98 1. 1. rs6736913 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.629 N 0.890 0.279 P -2.915 0.000 N 0.55 0.547 T 3.68 0.001 N 0.316 0.399 -0.926 0.447 T 0.000 0.000 T . . . 1.811 0.279 15.05 0.695 0.087 0.307 0.239 N c -0.713 -0.325 1.000 0.747 0.732 0.924 0 5.89 0.947 8.101 0.893 0.138 0.222 1.000 0.715 0.294 0.236 15.366 0.741 HELP|Quinoprotein alcohol dehydrogenase-like superfamily . . 0.9904 0.9970 0.9960 0.9993 0.9999 0.9835 0.9847 0.9916 0.9978 0.9900 0.9966 0.9952 1 1 0.9831 0.9860 0.9919 hom 6973.75 227 2 42510018 . A G 6973.75 Mask AC=2;AF=1.00;AN=2;DP=227;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6102;MQ=58.85;MQ0=0;QD=30.72;VQSLOD=9.1290;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,227:227:99:6973,533,0 2 42515388 42515388 A G exonic EML4 nonsynonymous SNV EML4:NM_001145076:exon10:c.A970G:p.I324V,EML4:NM_019063:exon11:c.A1144G:p.I382V 0.85 0.97 0.64 0.8 0.9 0.85 0.8564 0.9453 0.5055 0.8034 0.8585 0.9041 0.8689 0.8798 0.92 0.94 0.9 0.91 0.91 rs10202624 COSM3758234 1(large_intestine) . . . . . . . . . . . 1.0 0.022 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.204 P -2.09 0.002 N 0.76 0.499 T 0.91 0.016 N 0.16 0.192 -0.938 0.430 T 0.000 0.000 T . . . 1.384 0.230 12.70 0.714 0.093 0.113 0.163 N c -0.590 -0.252 1.000 0.747 0.732 0.924 0 5.67 0.876 8.162 0.895 0.104 0.200 1.000 0.715 0.998 0.697 14.879 0.700 Quinoprotein alcohol dehydrogenase-like superfamily|WD40/YVTN repeat-like-containing domain ENSG00000115944.10|ENSG00000115944.10|ENSG00000115944.10|ENSG00000115944.10|ENSG00000162882.10|ENSG00000143924.14|ENSG00000115944.10 Adipose_Subcutaneous|Esophagus_Mucosa|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8426 0.9471 0.5148 0.8875 0.7992 0.8566 0.9071 0.8514 0.8778 0.9037 0.9443 0.5861 0.9040 0.8181 0.8613 0.9173 0.8981 hom 3671.26 127 2 42515388 . A G 3671.26 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.32;MQ0=0;QD=28.91;VQSLOD=8.1294;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3671,271,0 2 42990101 42990101 G C exonic OXER1 nonsynonymous SNV OXER1:NM_148962:exon1:c.C1219G:p.L407V 0.33 0.2 0.24 0.6 0.24 0.41 0.2734 0.2290 0.2683 0.6147 0.2884 0.2155 0.2808 0.3536 0.22 0.23 0.21 0.26 0.26 rs2278586 COSM1599964 1(liver);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . 0.0 0.912 D 0.02 0.170 B 0.008 0.127 B . . . 1 0.090 P 0.55 0.145 N -0.02 0.629 T -0.39 0.136 N 0.105 0.111 -0.930 0.442 T 0.000 0.000 T . . . 1.121 0.202 11.33 0.994 0.648 0.102 0.156 N c -1.011 -0.991 1.000 0.407 0.660 0.495 0 2.94 0.330 -0.826 0.045 0.884 0.388 0.000 0.063 0.068 0.175 12.012 0.524 . ENSG00000162881.5|ENSG00000162881.5|ENSG00000162881.5|ENSG00000162881.5 Artery_Aorta|Artery_Tibial|Lung|Whole_Blood 0.2714 0.2249 0.2559 0.2251 0.5993 0.2847 0.2119 0.2467 0.3523 0.2376 0.2188 0.2494 0.1854 0.5910 0.2636 0.2041 0.2469 hom 3815.32 121 2 42990101 . G C 3815.32 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7718;MQ=59.14;MQ0=0;QD=31.53;VQSLOD=7.6497;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3815,295,0 2 42990336 42990336 T G exonic OXER1 synonymous SNV OXER1:NM_148962:exon1:c.A984C:p.R328R 0.78 0.96 0.75 0.82 0.54 0.77 0.6475 0.9049 0.8263 0.7796 0.5536 0.5490 0.6513 0.7168 0.66 0.88 0.55 0.73 0.54 rs1992286 COSM442907 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6438 0.9095 0.8016 0.6267 0.7682 0.5541 0.5391 0.6292 0.7165 0.6500 0.8990 0.7632 0.6258 0.7729 0.5344 0.5168 0.5840 hom 788.44 25 2 42990336 . T G 788.44 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.94;MQ0=0;QD=31.54;VQSLOD=7.8160;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:66.17:821,66,0 2 42990522 42990522 C T exonic OXER1 synonymous SNV OXER1:NM_148962:exon1:c.G798A:p.A266A 0.34 0.24 0.24 0.59 0.24 0.41 0.3409 0.3101 0.3551 0.6478 0.3736 0.2771 0.3407 0.3863 0.22 0.25 0.21 0.25 0.24 rs12712859 COSM3758236 1(liver);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2745 0.2529 0.2578 0.2236 0.5952 0.2856 0.2123 0.2478 0.3532 0.2425 0.2411 0.2518 0.1788 0.5835 0.2629 0.2022 0.2454 hom 652.77 22 2 42990522 . C T 652.77 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=29.67;VQSLOD=8.4946;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:57.14:686,57,0 2 42990746 42990746 G A exonic OXER1 synonymous SNV OXER1:NM_148962:exon1:c.C574T:p.L192L . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.414e-06 0 0 0 0 0 1.861e-05 0 0 3.232e-05 0 0 0 0 0 6.675e-05 0 het 333.03 19 2 42990746 . G A 333.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.380;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;MQRankSum=-0.718;QD=17.53;ReadPosRankSum=2.155;VQSLOD=4.5698;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,12:19:99:363,0,206 2 43015704 43015704 T A exonic HAAO nonsynonymous SNV HAAO:NM_012205:exon2:c.A124T:p.T42S 0.31 0.18 0.25 0.58 0.28 0.3 0.2845 0.2195 0.2852 0.5989 0.3405 0.2456 0.3128 0.2937 0.23 0.22 0.23 0.28 0.2 rs3816182 . . . . . . . . . . . . . 0.73 0.038 T 0.001 0.067 B 0.002 0.063 B 0.659 0.104 N 0.999 0.217 P 0.125 0.086 N 1.59 0.288 T -0.39 0.170 N 0.284 0.343 -0.955 0.401 T 0.000 0.000 T . . . 0.940 0.184 10.32 0.704 0.090 0.661 0.327 D c -0.361 -0.159 1.000 0.747 0.644 0.439 0 4.34 0.511 1.100 0.304 1.056 0.757 0.993 0.376 0.985 0.512 9.314 0.369 RmlC-like cupin domain|RmlC-like jelly roll fold . . 0.2885 0.2179 0.2808 0.2985 0.5897 0.3467 0.2405 0.2774 0.2944 0.2629 0.2076 0.2697 0.2384 0.5934 0.3269 0.2442 0.2689 hom 4767.57 157 2 43015704 . T A 4767.57 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9818;MQ=58.76;MQ0=0;QD=30.37;VQSLOD=8.2925;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:157:99:4767,370,0 2 43015719 43015719 T C exonic HAAO nonsynonymous SNV HAAO:NM_012205:exon2:c.A109G:p.I37V 0.86 0.89 0.89 0.8 0.76 0.95 0.8061 0.8658 0.9141 0.7723 0.7436 0.7593 0.8282 0.9236 0.79 0.85 0.76 0.85 0.74 rs3816183 COSM4133842 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.198 P -1.84 0.003 N 1.74 0.263 T 0.7 0.022 N 0.235 0.288 -0.970 0.373 T 0.000 0.000 T . . . -1.036 0.031 0.013 0.262 0.012 0.056 0.114 N c -1.155 -0.894 1.000 0.747 0.644 0.439 0 3.66 0.409 2.273 0.428 -0.882 0.027 1.000 0.715 0.752 0.322 9.320 0.369 RmlC-like cupin domain|RmlC-like jelly roll fold ENSG00000162881.5|ENSG00000226491.1|ENSG00000226491.1|ENSG00000162882.10|ENSG00000226491.1|ENSG00000162882.10|ENSG00000162882.10|ENSG00000162882.10|ENSG00000162881.5|ENSG00000162882.10|ENSG00000162881.5|ENSG00000162882.10|ENSG00000162881.5|ENSG00000162882.10 Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary 0.8042 0.8683 0.8958 0.8112 0.7661 0.7483 0.7513 0.8157 0.9218 0.7786 0.8626 0.8807 0.8146 0.7741 0.7400 0.7328 0.7766 hom 4545.51 157 2 43015719 . T C 4545.51 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2665;MQ=58.91;MQ0=0;QD=28.95;VQSLOD=8.6083;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:4544,376,0 2 43452618 43452618 C T exonic ZFP36L2 nonsynonymous SNV ZFP36L2:NM_006887:exon2:c.G325A:p.G109S 0.071 0.055 0.036 0.003 0.068 0.19 0.0845 0.0564 0.0359 0.0037 0.0932 0.0755 0.0909 0.1983 0.062 0.049 0.069 0.033 0.057 rs11675632 . . . . . . . . . . . . . 0.284 0.153 T 0.047 0.206 B 0.013 0.154 B 0.001 0.434 D 1 0.810 D 0.64 0.161 N 0.89 0.456 T -0.32 0.123 N 0.063 0.048 -1.092 0.052 T 0.005 0.017 T . . . 2.283 0.336 18.06 0.997 0.808 0.046 0.102 N c -0.685 -0.554 1.000 0.747 0.442 0.072 0 3.24 0.361 -0.195 0.095 0.869 0.378 0.040 0.208 1.000 0.888 6.861 0.231 Tis11B-like protein\x2c N-terminal . . 0.0745 0.0488 0.0335 0.0753 0.0026 0.0745 0.0693 0.0632 0.1909 0.0595 0.0500 0.0290 0.0646 0.0038 0.0796 0.0672 0.0726 het 385.91 27 2 43452618 . C T 385.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.080;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7331;MQ=60.00;MQ0=0;MQRankSum=-0.427;QD=14.29;ReadPosRankSum=0.577;VQSLOD=6.0193;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,17:27:99:416,0,177 2 43903066 43903066 A G exonic C1GALT1C1L synonymous SNV C1GALT1C1L:NM_001101330:exon1:c.T396C:p.G132G 0.54 0.61 0.54 0.19 0.72 0.63 0.6447 0.6214 0.5269 0.2184 0.7105 0.7142 0.6527 0.6562 0.7 0.65 0.72 0.54 . rs3828297 COSN166080 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6430 0.6175 0.5429 0.7195 0.2122 0.7063 0.7178 0.6849 0.6569 0.6505 0.6221 0.5728 0.7053 0.2209 0.7045 0.7032 0.6622 het 4113.34 248 2 43903066 . A G 4113.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.303;DP=248;DS;Dels=0.00;FS=0.477;HRun=0;HaplotypeScore=7.2332;MQ=59.55;MQ0=0;MQRankSum=-0.117;QD=16.59;ReadPosRankSum=-0.583;VQSLOD=4.2804;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,129:248:99:3468,0,3014 2 43903354 43903354 T C exonic C1GALT1C1L synonymous SNV C1GALT1C1L:NM_001101330:exon1:c.A108G:p.Q36Q 0.5 0.58 0.51 0.16 0.69 0.56 0.6154 0.5920 0.4927 0.1885 0.6946 0.6915 0.6180 0.5982 0.67 0.62 0.7 0.48 . rs4952675 COSN166081 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6125 0.5856 0.5087 0.7104 0.1841 0.6925 0.6912 0.6564 0.5963 0.6250 0.5927 0.5359 0.6954 0.1950 0.6884 0.6779 0.6354 het 1099.48 88 2 43903354 . T C 1099.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.451;DP=88;Dels=0.00;FS=2.783;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;MQRankSum=0.668;QD=12.49;ReadPosRankSum=-0.342;VQSLOD=6.4011;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,45:88:99:1129,0,1118 2 43926943 43926943 T A exonic PLEKHH2 synonymous SNV PLEKHH2:NM_172069:exon8:c.T846A:p.P282P 0.53 0.79 0.47 0.16 0.55 0.56 0.5322 0.7682 0.4457 0.1855 0.6027 0.5463 0.5397 0.5395 0.61 0.75 0.54 0.49 0.52 rs7606783 COSM3758240 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5245 0.7668 0.4530 0.5419 0.1816 0.5966 0.5447 0.5425 0.5400 0.5859 0.7601 0.4892 0.4834 0.1877 0.5916 0.5361 0.5492 het 1114.03 98 2 43926943 . T A 1114.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.094;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9787;MQ=59.00;MQ0=0;MQRankSum=1.315;QD=11.37;ReadPosRankSum=-1.270;VQSLOD=5.5521;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,40:98:99:1144,0,1425 2 43931176 43931176 T C exonic PLEKHH2 synonymous SNV PLEKHH2:NM_172069:exon9:c.T1707C:p.N569N 0.45 0.6 0.43 0.13 0.54 0.48 0.5006 0.5809 0.4074 0.1562 0.6023 0.5432 0.5132 0.4823 0.55 0.58 0.53 0.48 0.5 rs4953002 COSM442919 1(thyroid);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4958 0.5744 0.4167 0.5322 0.1550 0.5958 0.5415 0.5194 0.4803 0.5275 0.5657 0.4527 0.4702 0.1644 0.5891 0.5354 0.5278 het 1693.41 119 2 43931176 . T C 1693.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.734;DP=119;Dels=0.00;FS=0.711;HRun=0;HaplotypeScore=5.7500;MQ=58.92;MQ0=0;MQRankSum=-0.227;QD=14.23;ReadPosRankSum=0.537;VQSLOD=5.2294;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,74:119:99:1723,0,1027 2 44004010 44004010 T C exonic DYNC2LI1 nonsynonymous SNV DYNC2LI1:NM_001193464:exon2:c.T98C:p.F33S,DYNC2LI1:NM_001348912:exon2:c.T98C:p.F33S,DYNC2LI1:NM_001348913:exon2:c.T98C:p.F33S,DYNC2LI1:NM_015522:exon2:c.T98C:p.F33S,DYNC2LI1:NM_016008:exon2:c.T98C:p.F33S 0.51 0.89 0.49 0.17 0.35 0.54 0.4359 0.8378 0.5223 0.1866 0.3452 0.3764 0.4360 0.5297 0.52 0.82 0.36 0.52 0.26 rs2288709 COSM4001680;COSM4001681 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.029 T 0.0 0.090 B 0.0 0.063 B 0.000 0.843 N 1.000 0.810 P -1.735 0.003 N 1.6 0.286 T 1.76 0.007 N 0.104 0.596 -0.989 0.328 T 0.000 0.000 T . . . 1.919 0.291 15.71 0.888 0.177 0.039 0.091 N c -0.703 -0.386 0.371 0.199 0.732 0.924 0 5.41 0.782 3.236 0.508 0.069 0.176 1.000 0.715 1.000 0.888 12.371 0.544 P-loop containing nucleoside triphosphate hydrolase ENSG00000152527.9|ENSG00000152527.9 Cells_Transformed_fibroblasts|Nerve_Tibial 0.4228 0.8390 0.5150 0.4123 0.1796 0.3391 0.3701 0.4083 0.5230 0.4882 0.8271 0.5072 0.4007 0.1815 0.3541 0.3616 0.4025 het 1494.26 108 2 44004010 . T C 1494.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.635;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.40;MQ0=0;MQRankSum=-0.397;QD=13.84;ReadPosRankSum=0.513;VQSLOD=6.4138;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,56:108:99:1524,0,1241 2 44028013 44028013 A T exonic DYNC2LI1 nonsynonymous SNV DYNC2LI1:NM_001193464:exon9:c.A691T:p.I231L,DYNC2LI1:NM_001348912:exon9:c.A688T:p.I230L,DYNC2LI1:NM_001348913:exon9:c.A691T:p.I231L,DYNC2LI1:NM_016008:exon9:c.A688T:p.I230L 0.23 0.34 0.18 0.026 0.24 0.34 0.2457 0.3420 0.1452 0.0230 0.2329 0.2500 0.2622 0.3581 0.27 0.32 0.24 0.28 0.14 rs11556157 COSM3758241 1(breast);1(large_intestine) . . . . . . . . . . . 0.662 0.047 T 0.001 0.067 B 0.002 0.063 B 0.002 0.365 N 0.980 0.251 P 0.46 0.130 N 3.46 0.053 T -0.34 0.127 N 0.218 0.346 -0.893 0.486 T 0.000 0.000 T . . . 1.050 0.195 10.94 0.812 0.131 0.840 0.428 D c -0.104 0.017 0.037 0.143 0.693 0.558 0 3.94 0.446 2.716 0.466 0.106 0.201 1.000 0.715 0.997 0.653 8.725 0.334 . ENSG00000152527.9|ENSG00000152527.9 Artery_Aorta|Esophagus_Muscularis 0.2347 0.3363 0.1477 0.2413 0.0215 0.2247 0.2490 0.2446 0.3504 0.2546 0.3259 0.1793 0.2433 0.0223 0.2403 0.2469 0.2381 het 572.91 45 2 44028013 . A T 572.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.126;DP=45;Dels=0.00;FS=1.161;HRun=1;HaplotypeScore=0.8667;MQ=57.69;MQ0=0;MQRankSum=0.765;QD=12.73;ReadPosRankSum=-0.217;VQSLOD=5.1513;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,25:45:99:603,0,457 2 44071743 44071743 A G exonic ABCG8 nonsynonymous SNV ABCG8:NM_022437:exon2:c.A161G:p.Y54C 0.43 0.13 0.35 0.85 0.37 0.54 0.4287 0.1929 0.4008 0.8702 0.4684 0.3875 0.4358 0.5122 0.32 0.2 0.39 0.32 0.3 rs4148211 COSM3758245 1(breast);1(large_intestine) Benign|Benign Sitosterolemia|not_specified RCV000315492.1|RCV000324327.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0342907:210250:ORPHA2882:238104009|CN169374 . . . . . . 0.043 0.413 D 0.321 0.313 B 0.191 0.347 B 0.000 0.491 N 0.000 0.588 P 1.895 0.505 L -2.38 0.883 D -5.18 0.835 D 0.265 0.322 -0.942 0.424 T 0.000 0.000 T . . . 4.162 0.558 23.8 0.994 0.603 0.984 0.824 D c -0.016 0.109 1.000 0.409 0.516 0.203 0 4.12 0.473 5.210 0.648 1.076 0.850 1.000 0.715 0.991 0.552 10.976 0.465 ABC transporter-like . . 0.4285 0.1863 0.3900 0.3684 0.8693 0.4492 0.3844 0.4031 0.5125 0.3651 0.1939 0.3864 0.3833 0.8784 0.4539 0.3849 0.3992 het 1261.26 92 2 44071743 . A G 1261.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.884;DP=92;Dels=0.00;FS=2.902;HRun=0;HaplotypeScore=4.7384;MQ=59.19;MQ0=0;MQRankSum=0.027;QD=13.71;ReadPosRankSum=-2.034;VQSLOD=4.8857;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,46:92:99:1291,0,996 2 44102491 44102491 C T exonic ABCG8 synonymous SNV ABCG8:NM_022437:exon11:c.C1695T:p.A565A 0.13 0.17 0.16 0.019 0.18 0.11 0.1489 0.1718 0.1245 0.0173 0.1813 0.1714 0.1560 0.1160 0.17 0.17 0.18 0.12 0.2 rs4148221 . . Likely benign Sitosterolemia RCV000276035.1 MedGen:OMIM:Orphanet:SNOMED_CT C0342907:210250:ORPHA2882:238104009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1471 0.1726 0.1259 0.1849 0.0171 0.1774 0.1689 0.1634 0.1142 0.1605 0.1692 0.1211 0.2119 0.0216 0.1849 0.1652 0.1704 het 1245.49 88 2 44102491 . C T 1245.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.535;DP=88;Dels=0.00;FS=4.234;HRun=0;HaplotypeScore=3.6029;MQ=59.58;MQ0=0;MQRankSum=0.723;QD=14.15;ReadPosRankSum=1.015;VQSLOD=5.6195;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,46:88:99:1275,0,1147 2 44104925 44104925 T C exonic ABCG8 nonsynonymous SNV ABCG8:NM_022437:exon13:c.T1895C:p.V632A 0.92 0.99 0.86 1. 0.8 0.92 0.8421 0.9601 0.8419 0.9997 0.8273 0.7891 0.8645 0.9038 0.84 0.95 0.78 0.91 0.81 rs6544718 . . Benign Sitosterolemia RCV000282782.1 MedGen:OMIM:Orphanet:SNOMED_CT C0342907:210250:ORPHA2882:238104009 . . . . . . 0.893 0.025 T 0.0 0.026 B 0.0 0.013 B 0.556 0.054 N 1 0.090 P -1.59 0.004 N 2.43 0.153 T 1.41 0.008 N 0.021 0.005 -1.008 0.276 T 0.000 0.000 T . . . -0.943 0.034 0.021 0.584 0.058 0.025 0.070 N c -1.547 -1.435 0.997 0.356 0.616 0.391 0 0.054 0.136 0.176 0.165 0.069 0.176 0.000 0.063 0.246 0.227 5.343 0.152 . . . 0.8414 0.9646 0.8462 0.9032 0.9996 0.8254 0.7796 0.8391 0.9026 0.8505 0.9603 0.8294 0.9238 0.9988 0.8170 0.7797 0.8231 hom 3782.09 117 2 44104925 . T C 3782.09 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.68;MQ0=0;QD=32.33;VQSLOD=9.6865;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3782,292,0 2 44209477 44209477 C T exonic LRPPRC synonymous SNV LRPPRC:NM_133259:exon2:c.G246A:p.Q82Q 0.5 0.68 0.55 0.037 0.74 0.47 0.6240 0.7041 0.4802 0.0350 0.7286 0.7259 0.6619 0.5277 0.72 0.7 0.74 0.58 0.65 rs6741066 COSM1408165 2(large_intestine) Likely benign|Benign not_specified|Leigh_syndrome RCV000117556.2|RCV000311110.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0023264:256000:ORPHA506:29570005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6202 0.7047 0.4830 0.7402 0.0339 0.7400 0.7290 0.6405 0.5326 0.6781 0.7029 0.5347 0.7550 0.0222 0.7353 0.7288 0.6602 hom 1752.46 67 2 44209477 . C T 1752.46 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.712;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=-0.500;QD=26.16;ReadPosRankSum=0.470;VQSLOD=8.2282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:3,64:67:64.14:1785,64,0 2 44502788 44502788 A C exonic SLC3A1 synonymous SNV SLC3A1:NM_000341:exon1:c.A114C:p.G38G 0.7 0.8 0.67 0.38 0.77 0.86 0.7328 0.7897 0.5908 0.3667 0.6807 0.7708 0.7239 0.8533 0.78 0.79 0.77 0.67 0.73 rs3738985 . . Benign Cystinuria RCV000336500.1 MedGen:OMIM:SNOMED_CT C0010691:220100:85020001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7238 0.7894 0.5994 0.7888 0.3557 0.6791 0.7751 0.7428 0.8546 0.7352 0.7927 0.6175 0.8278 0.3325 0.6810 0.7640 0.7102 het 967.71 57 2 44502788 . A C 967.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.631;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.93;MQ0=0;MQRankSum=-1.336;QD=16.98;ReadPosRankSum=-0.123;VQSLOD=6.2482;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,35:57:99:998,0,636 2 44513202 44513202 T C exonic SLC3A1 nonsynonymous SNV SLC3A1:NM_000341:exon4:c.T797C:p.F266S 0.0014 . 0.0029 . 0.004 0.001 0.0029 0.0004 0.0036 0 0.0002 0.0042 0 0.0017 0.0032 0.0005 0.0047 . . rs141587158 . . . . . . . . . . . . . 0.02 0.784 D 0.85 0.604 P 0.58 0.553 P 0.000 0.629 D 0.749 0.810 D 1.265 0.321 L -5.99 0.995 D -4.7 0.853 D 0.821 0.809 1.068 0.985 D 0.969 0.990 D 0.570 0.961 D 5.893 0.808 27.4 0.998 0.899 0.851 0.440 D c 0.415 0.391 1.000 0.467 0.487 0.133 0 3.68 0.412 1.999 0.402 0.998 0.613 1.000 0.715 0.999 0.750 10.682 0.448 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain|Glycosyl hydrolase\x2c family 13\x2c catalytic domain;Glycoside hydrolase superfamily|Glycosyl hydrolase\x2c family 13\x2c catalytic domain|Glycosyl hydrolase\x2c family 13\x2c subfamily\x2c catalytic domain . . 0.0034 0.0006 0.0040 0.0262 0 0.0001 0.0033 0.0033 0.0015 0.0018 0.0005 0.0048 0.0232 0 0.0006 0.0025 0.0010 het 2247.88 174 2 44513202 . T C 2247.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.160;DP=174;Dels=0.00;FS=4.587;HRun=0;HaplotypeScore=2.7470;MQ=59.39;MQ0=0;MQRankSum=-1.239;QD=12.92;ReadPosRankSum=-1.407;VQSLOD=3.3963;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,88:174:99:2278,0,2307 2 44547574 44547574 G A exonic SLC3A1 nonsynonymous SNV SLC3A1:NM_000341:exon10:c.G1854A:p.M618I 0.46 0.21 0.54 0.32 0.66 0.67 0.5960 0.2701 0.4998 0.3221 0.5958 0.6811 0.6013 0.6676 0.54 0.29 0.68 0.38 0.64 rs698761 COSM5425577 2(haematopoietic_and_lymphoid_tissue) Benign Cystinuria RCV000261712.1 MedGen:OMIM:SNOMED_CT C0010691:220100:85020001 . . . . . . 0.337 0.133 T 0.001 0.067 B 0.001 0.040 B 0.120 0.190 N 1 0.090 P 0.77 0.194 N -5.33 0.990 D -0.38 0.146 N 0.039 0.026 -0.903 0.477 T 0.000 0.000 T . . . -0.131 0.082 1.508 0.661 0.077 0.234 0.219 N c -1.232 -1.240 0.004 0.102 0.706 0.609 0 -1.37 0.085 -0.144 0.102 0.003 0.136 0.000 0.063 0.557 0.281 2.100 0.034 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain|Glycosyl hydrolase\x2c family 13\x2c catalytic domain|Glycosyl hydrolase\x2c family 13\x2c subfamily\x2c catalytic domain;Glycoside hydrolase superfamily|Glycosyl hydrolase\x2c family 13\x2c catalytic domain|Glycosyl hydrolase\x2c family 13\x2c subfamily\x2c catalytic domain ENSG00000138078.11|ENSG00000138078.11|ENSG00000138078.11|ENSG00000273106.1|ENSG00000138078.11 Adrenal_Gland|Artery_Tibial|Pancreas|Testis|Thyroid 0.5954 0.2598 0.5143 0.6817 0.3136 0.5918 0.6832 0.6216 0.6660 0.5224 0.2759 0.5143 0.7086 0.2877 0.5928 0.6666 0.5969 het 794.07 80 2 44547574 . G A 794.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.941;DP=80;Dels=0.00;FS=16.935;HRun=1;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;MQRankSum=0.226;QD=9.93;ReadPosRankSum=1.009;VQSLOD=3.5518;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,31:80:99:824,0,1446 2 45171842 45171842 A G exonic SIX3 synonymous SNV SIX3:NM_005413:exon2:c.A942G:p.A314A 0.94 0.98 0.93 0.99 0.92 0.85 0.9215 0.9717 0.9313 0.9811 0.9147 0.9178 0.9015 0.8776 0.94 0.97 0.92 0.89 0.61 rs338074 . . Benign not_specified RCV000153953.5 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9244 0.9724 0.9312 0.9256 0.9841 0.9190 0.9198 0.9220 0.8812 0.9385 0.9753 0.9451 0.9404 0.9870 0.9232 0.9169 0.9068 hom 860.60 30 2 45171842 . A G 860.60 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.69;VQSLOD=13.4751;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:72.20:894,72,0 2 47382342 47382342 G T exonic STPG4 nonsynonymous SNV STPG4:NM_001163561:exon1:c.C49A:p.L17M,STPG4:NM_173649:exon1:c.C49A:p.L17M 0.13 0.1 0.13 0.15 0.18 0.081 0.1656 0.1285 0.0830 0.1123 0.1691 0.2088 0.1532 0.0989 0.18 0.14 0.2 0.15 0.26 rs815804 COSM4133860;COSM4133859 1(thyroid) . . . . . . . . . . . 0.026 0.486 D 0.911 0.484 P 0.474 0.451 P . . . 1 0.090 P 1.61 0.413 L 1.02 0.407 T 0.2 0.065 N 0.084 0.078 -1.042 0.168 T 0.000 0.000 T . . . -0.518 0.054 0.199 0.987 0.438 0.080 0.139 N c -0.612 -0.797 0.997 0.354 0.517 0.208 0 0.373 0.153 -0.352 0.077 0.953 0.551 0.000 0.063 0.009 0.108 11.525 0.496 . . . 0.1638 0.1245 0.0917 0.2790 0.1157 0.1717 0.2037 0.1709 0.1003 0.1733 0.1301 0.1172 0.2914 0.1120 0.1703 0.2057 0.1853 het 674.76 59 2 47382342 . G T 674.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.008;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4368;MQ=58.94;MQ0=0;MQRankSum=-1.061;QD=11.44;ReadPosRankSum=-2.008;VQSLOD=4.7807;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,26:59:99:705,0,977 2 47601106 47601106 T C exonic EPCAM nonsynonymous SNV EPCAM:NM_002354:exon3:c.T344C:p.M115T 0.67 0.89 0.52 0.83 0.47 0.5 0.5198 0.8345 0.4629 0.8267 0.6097 0.4396 0.5121 0.4887 0.57 0.83 0.43 0.62 0.45 rs1126497 COSM3927762 2(prostate) Benign|Benign|Likely benign Hereditary_cancer-predisposing_syndrome|not_specified|Lynch_syndrome RCV000162369.1|RCV000244202.1|RCV000298863.1 MedGen:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT C0027672:699346009|CN169374|C1333990:ORPHA144:315058005 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.060 0.222 N 1 0.090 P -1.4 0.006 N 0.05 0.619 T 2.21 0.003 N 0.058 0.529 -0.934 0.436 T 0.000 0.000 T . . . -0.486 0.056 0.238 0.739 0.102 0.076 0.135 N c -1.157 -0.973 1.000 0.747 0.778 0.996 0 1.71 0.233 0.050 0.139 -0.318 0.077 0.559 0.272 0.815 0.341 11.894 0.517 Thyroglobulin type-1 ENSG00000095002.8|ENSG00000095002.8|ENSG00000095002.8 Adipose_Subcutaneous|Artery_Tibial|Lung 0.5124 0.8448 0.4716 0.3658 0.8317 0.5980 0.4363 0.4717 0.4807 0.6033 0.8316 0.4557 0.3775 0.8403 0.6001 0.4616 0.5545 het 1567.78 116 2 47601106 . T C 1567.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.840;DP=116;Dels=0.00;FS=2.407;HRun=0;HaplotypeScore=1.8874;MQ=59.28;MQ0=0;MQRankSum=1.669;QD=13.52;ReadPosRankSum=-0.434;VQSLOD=6.4345;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,62:116:99:1598,0,1369 2 47698108 47698108 T C exonic MSH2 synonymous SNV MSH2:NM_000251:exon11:c.T1666C:p.L556L,MSH2:NM_001258281:exon12:c.T1468C:p.L490L 0.0022 . 0.0029 . 0.0089 . 0.0045 0.0015 0.0010 0 0.0054 0.0070 0.0033 0.0010 0.0058 0.0014 0.008 . . rs61756466 COSM5020835 1(soft_tissue) Benign|Benign|Benign Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified RCV000030242.3|RCV000126816.4|RCV000202289.2 MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT|MedGen C1333990:ORPHA144:315058005|C0027672:699346009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0043 0.0014 0.0022 0.0038 0 0.0038 0.0071 0.0055 0.0009 0.0040 0.0011 0.0012 0.0033 0 0.0043 0.0063 0.0041 het 944.54 66 2 47698108 . T C 944.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.145;DP=66;Dels=0.00;FS=5.502;HRun=0;HaplotypeScore=0.9332;MQ=58.95;MQ0=0;MQRankSum=-0.419;QD=14.31;ReadPosRankSum=0.135;VQSLOD=4.8559;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,36:66:99:975,0,791 2 48018081 48018081 A G exonic MSH6 synonymous SNV MSH6:NM_000179:exon2:c.A276G:p.P92P 0.087 0.084 0.12 . 0.18 0.06 0.1349 0.1058 0.0803 0.0003 0.1241 0.1823 0.1432 0.0746 0.17 0.12 0.19 0.13 0.18 rs1800932 COSM4133863 1(thyroid) Benign|Benign|Benign Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome RCV000030265.4|RCV000035321.8|RCV000162362.1 MedGen:Orphanet:SNOMED_CT|MedGen|MedGen:SNOMED_CT C1333990:ORPHA144:315058005|CN169374|C0027672:699346009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1348 0.1030 0.0855 0.1720 0.0003 0.1229 0.1904 0.1416 0.0737 0.1314 0.1084 0.0967 0.1457 0.0012 0.1197 0.1640 0.1202 het 1526.84 138 2 48018081 . A G 1526.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.716;DP=138;Dels=0.00;FS=11.550;HRun=2;HaplotypeScore=2.8623;MQ=59.73;MQ0=0;MQRankSum=0.135;QD=11.06;ReadPosRankSum=-0.797;VQSLOD=4.4148;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,66:138:99:1557,0,1749 2 48023115 48023115 T C exonic MSH6 synonymous SNV MSH6:NM_000179:exon3:c.T540C:p.D180D 0.14 0.15 0.18 . 0.29 0.07 0.2144 0.1675 0.1109 0.0008 0.2855 0.2901 0.2093 0.0948 0.25 0.18 0.29 0.2 0.28 rs1800935 COSM3758252 1(large_intestine) Benign|Benign|Benign Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome RCV000030275.4|RCV000035326.8|RCV000131276.2 MedGen:Orphanet:SNOMED_CT|MedGen|MedGen:SNOMED_CT C1333990:ORPHA144:315058005|CN169374|C0027672:699346009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2138 0.1677 0.1236 0.2105 0.0007 0.2765 0.3007 0.2156 0.0945 0.2281 0.1767 0.1456 0.1755 0.0019 0.2689 0.2787 0.2279 hom 1593.74 53 2 48023115 . T C 1593.74 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.07;VQSLOD=14.2319;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1627,132,0 2 48602252 48602252 C T exonic FOXN2 synonymous SNV FOXN2:NM_002158:exon7:c.C966T:p.S322S 0.26 0.12 0.21 0.46 0.31 0.2 0.2927 0.1513 0.1748 0.4400 0.4089 0.3246 0.2688 0.2131 0.27 0.16 0.32 0.17 0.25 rs17855177 COSM4417730 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2921 0.1489 0.1860 0.2415 0.4441 0.3994 0.3273 0.2767 0.2074 0.2959 0.1563 0.2229 0.2715 0.4374 0.3800 0.3470 0.2935 hom 2396.32 78 2 48602252 . C T 2396.32 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=56.40;MQ0=0;QD=30.72;VQSLOD=6.7783;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2429,190,0 2 48681868 48681868 C G exonic PPP1R21 synonymous SNV PPP1R21:NM_001135629:exon3:c.C261G:p.G87G,PPP1R21:NM_001193475:exon3:c.C261G:p.G87G,PPP1R21:NM_152994:exon3:c.C261G:p.G87G 0.031 0.0023 0.048 . 0.11 0.0061 0.0745 0.0200 0.0337 0 0.1418 0.1075 0.0629 0.0167 0.077 0.025 0.1 0.033 0.082 rs76587580 COSM3758253;COSM3758254 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0750 0.0182 0.0386 0.0420 0 0.1346 0.1124 0.0754 0.0163 0.0809 0.0221 0.0537 0.0333 0 0.1259 0.1159 0.0789 het 1211.32 148 2 48681868 . C G 1211.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.464;DP=148;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9967;MQ=58.62;MQ0=0;MQRankSum=1.243;QD=8.18;ReadPosRankSum=-1.279;VQSLOD=5.2182;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,52:148:99:1241,0,2655 2 48807796 48807796 A C exonic STON1;STON1-GTF2A1L nonsynonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.A24C:p.K8N,STON1-GTF2A1L:NM_001198593:exon2:c.A24C:p.K8N,STON1:NM_006873:exon2:c.A24C:p.K8N,STON1-GTF2A1L:NM_172311:exon2:c.A24C:p.K8N,STON1:NM_001198595:exon3:c.A24C:p.K8N 0.33 0.28 0.31 0.38 0.32 0.39 0.3362 0.2875 0.2999 0.3951 0.4469 0.3239 0.3646 0.3863 0.31 0.3 0.32 0.3 0.27 rs17039250 COSM3758255;COSM3758256 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.463 N 0.998 0.222 P -2.35 0.001 N 3.27 0.066 T 1.91 0.006 N 0.023 0.006 -0.959 0.394 T 0.000 0.000 T . . . -0.193 0.077 1.138 0.271 0.013 0.056 0.114 N c -0.969 -0.709 0.008 0.116 0.651 0.465 0 1.6 0.226 0.157 0.161 -0.327 0.075 0.960 0.334 0.996 0.625 5.418 0.156 . ENSG00000242441.3|ENSG00000068781.16|ENSG00000242441.3|ENSG00000242441.3|ENSG00000068781.16|ENSG00000068781.16|ENSG00000068781.16|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000242441.3|ENSG00000068781.16|ENSG00000242441.3|ENSG00000068781.16|ENSG00000068781.16|ENSG00000242441.3|ENSG00000170820.7|ENSG00000068781.16|ENSG00000243244.1|ENSG00000242441.3|ENSG00000068781.16|ENSG00000242441.3|ENSG00000068781.16|ENSG00000170802.11|ENSG00000068781.16|ENSG00000239995.2|ENSG00000243244.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.3424 0.2893 0.2993 0.2332 0.3926 0.4505 0.3221 0.3587 0.3844 0.3461 0.2963 0.3282 0.2616 0.4272 0.4442 0.3443 0.3758 het 1472.38 153 2 48807796 . A C 1472.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.165;DP=153;Dels=0.00;FS=3.867;HRun=0;HaplotypeScore=0.0000;MQ=57.36;MQ0=0;MQRankSum=0.766;QD=9.62;ReadPosRankSum=-1.003;VQSLOD=4.2167;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,63:153:99:1502,0,2242 2 48807976 48807976 T C exonic STON1;STON1-GTF2A1L synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.T204C:p.D68D,STON1-GTF2A1L:NM_001198593:exon2:c.T204C:p.D68D,STON1:NM_006873:exon2:c.T204C:p.D68D,STON1-GTF2A1L:NM_172311:exon2:c.T204C:p.D68D,STON1:NM_001198595:exon3:c.T204C:p.D68D 0.34 0.28 0.32 0.39 0.33 0.4 0.3472 0.2889 0.3046 0.4224 0.4549 0.3341 0.3689 0.4010 0.32 0.3 0.33 0.34 0.27 rs3828340 COSM3758257;COSM3758258 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3525 0.2910 0.3178 0.2406 0.4265 0.4587 0.3334 0.3498 0.3953 0.3536 0.2983 0.3373 0.2667 0.4484 0.4536 0.3531 0.3809 het 2215.94 146 2 48807976 . T C 2215.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.524;DP=146;Dels=0.00;FS=2.169;HRun=0;HaplotypeScore=0.9979;MQ=58.85;MQ0=0;MQRankSum=0.834;QD=15.18;ReadPosRankSum=-0.770;VQSLOD=6.2594;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,83:146:99:2246,0,1613 2 48808152 48808152 G C exonic STON1;STON1-GTF2A1L nonsynonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.G380C:p.R127T,STON1-GTF2A1L:NM_001198593:exon2:c.G380C:p.R127T,STON1:NM_006873:exon2:c.G380C:p.R127T,STON1-GTF2A1L:NM_172311:exon2:c.G380C:p.R127T,STON1:NM_001198595:exon3:c.G380C:p.R127T 0.36 0.31 0.33 0.39 0.34 0.42 0.3537 0.3130 0.3088 0.4205 0.4544 0.3355 0.3790 0.4310 0.33 0.32 0.33 0.34 0.28 rs940389 COSM3758259;COSM3758260 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.03 0.457 D 0.183 0.275 B 0.085 0.279 B 0.185 0.170 N 1 0.090 P 0 0.065 N 2.92 0.099 T 0.29 0.096 N 0.011 0.012 -0.912 0.466 T 0.000 0.000 T . . . -0.086 0.086 1.838 0.700 0.089 0.135 0.177 N c -1.050 -1.026 0.122 0.169 0.732 0.924 0 2.83 0.320 1.360 0.335 0.208 0.253 0.243 0.246 0.006 0.095 7.652 0.274 . ENSG00000242441.3|ENSG00000068781.16|ENSG00000242441.3|ENSG00000242441.3|ENSG00000068781.16|ENSG00000068781.16|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000242441.3|ENSG00000068781.16|ENSG00000242441.3|ENSG00000068781.16|ENSG00000068781.16|ENSG00000242441.3|ENSG00000170820.7|ENSG00000068781.16|ENSG00000243244.1|ENSG00000242441.3|ENSG00000068781.16|ENSG00000242441.3|ENSG00000068781.16|ENSG00000170802.11|ENSG00000239995.2|ENSG00000243244.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis|Whole_Blood 0.3554 0.3188 0.3148 0.2505 0.4230 0.4578 0.3333 0.3490 0.4133 0.3603 0.3185 0.3385 0.2733 0.4466 0.4501 0.3559 0.3816 het 1485.80 105 2 48808152 . G C 1485.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.363;DP=105;Dels=0.00;FS=13.486;HRun=0;HaplotypeScore=3.7800;MQ=59.36;MQ0=0;MQRankSum=0.549;QD=14.15;ReadPosRankSum=0.375;VQSLOD=3.5595;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,55:105:99:1516,0,1222 2 48808594 48808594 C T exonic STON1;STON1-GTF2A1L synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.C822T:p.S274S,STON1-GTF2A1L:NM_001198593:exon2:c.C822T:p.S274S,STON1:NM_006873:exon2:c.C822T:p.S274S,STON1-GTF2A1L:NM_172311:exon2:c.C822T:p.S274S,STON1:NM_001198595:exon3:c.C822T:p.S274S 0.4 0.29 0.41 0.39 0.47 0.45 0.4667 0.3189 0.3601 0.4173 0.5767 0.5017 0.5022 0.4731 0.44 0.34 0.5 0.39 0.43 rs3749142 COSM3758262;COSM3758261 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4659 0.3210 0.3732 0.4533 0.4189 0.5858 0.4959 0.4720 0.4748 0.4632 0.3285 0.4199 0.5232 0.4419 0.5873 0.5121 0.5245 het 1019.71 89 2 48808594 . C T 1019.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.041;DP=89;Dels=0.00;FS=0.811;HRun=0;HaplotypeScore=1.7791;MQ=59.74;MQ0=0;MQRankSum=0.103;QD=11.46;ReadPosRankSum=0.416;VQSLOD=6.7655;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,41:89:99:1050,0,1195 2 48808882 48808882 T A exonic STON1;STON1-GTF2A1L synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.T1110A:p.P370P,STON1-GTF2A1L:NM_001198593:exon2:c.T1110A:p.P370P,STON1:NM_006873:exon2:c.T1110A:p.P370P,STON1-GTF2A1L:NM_172311:exon2:c.T1110A:p.P370P,STON1:NM_001198595:exon3:c.T1110A:p.P370P 0.34 0.28 0.31 0.39 0.32 0.39 0.3381 0.2902 0.2995 0.4171 0.4478 0.3208 0.3601 0.3780 0.31 0.3 0.32 0.33 0.27 rs3749144 COSM3758264;COSM3758263 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3379 0.2910 0.3004 0.2267 0.4195 0.4504 0.3197 0.3209 0.3782 0.3466 0.2953 0.3282 0.2649 0.4410 0.4456 0.3441 0.3747 het 794.64 68 2 48808882 . T A 794.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.452;DP=68;Dels=0.00;FS=4.782;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=-0.903;QD=11.69;ReadPosRankSum=-0.629;VQSLOD=4.3700;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,28:68:99:825,0,1075 2 48808898 48808898 C T exonic STON1;STON1-GTF2A1L synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.C1126T:p.L376L,STON1-GTF2A1L:NM_001198593:exon2:c.C1126T:p.L376L,STON1:NM_006873:exon2:c.C1126T:p.L376L,STON1-GTF2A1L:NM_172311:exon2:c.C1126T:p.L376L,STON1:NM_001198595:exon3:c.C1126T:p.L376L 0.33 0.28 0.31 0.39 0.32 0.39 0.3364 0.2897 0.2964 0.4154 0.4475 0.3207 0.3587 0.3700 0.31 0.3 0.32 0.33 0.27 rs3749145 COSM3758266;COSM3758265 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3363 0.2911 0.2979 0.2270 0.4182 0.4497 0.3195 0.3203 0.3705 0.3465 0.2951 0.3270 0.2649 0.4409 0.4455 0.3443 0.3712 het 838.06 71 2 48808898 . C T 838.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.788;DP=71;Dels=0.00;FS=0.912;HRun=1;HaplotypeScore=4.7203;MQ=58.25;MQ0=0;MQRankSum=-0.599;QD=11.80;ReadPosRankSum=0.530;VQSLOD=5.1754;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:41,30:71:99:868,0,1045 2 48809593 48809593 G T exonic STON1;STON1-GTF2A1L nonsynonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.G1821T:p.Q607H,STON1-GTF2A1L:NM_001198593:exon2:c.G1821T:p.Q607H,STON1:NM_006873:exon2:c.G1821T:p.Q607H,STON1-GTF2A1L:NM_172311:exon2:c.G1821T:p.Q607H,STON1:NM_001198595:exon3:c.G1821T:p.Q607H 0.4 0.29 0.41 0.37 0.48 0.46 0.4713 0.3198 0.3622 0.3913 0.5858 0.5097 0.5099 0.4822 0.45 0.34 0.5 0.39 0.43 rs3792234 COSM1130770;COSM1130771 2(haematopoietic_and_lymphoid_tissue);4(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.031 0.253 N 1 0.090 P -1.06 0.011 N 2.93 0.098 T 0.01 0.069 N 0.058 0.126 -0.956 0.399 T 0.000 0.000 T . . . -3.678 0.000 0.001 0.204 0.007 0.012 0.043 N c -2.413 -2.465 1.000 0.517 0.706 0.609 0 -11.3 0.001 -2.342 0.012 -3.437 0.001 0.000 0.063 0.436 0.260 7.517 0.266 Mu homology domain ENSG00000243244.1|ENSG00000170802.11 Adrenal_Gland|Nerve_Tibial 0.4698 0.3219 0.3750 0.4339 0.3936 0.5950 0.5051 0.4780 0.4834 0.4677 0.3314 0.4233 0.5 0.4199 0.5980 0.5194 0.5316 het 1594.67 131 2 48809593 . G T 1594.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.463;DP=131;Dels=0.00;FS=1.410;HRun=0;HaplotypeScore=1.4679;MQ=59.82;MQ0=0;MQRankSum=0.025;QD=12.17;ReadPosRankSum=-0.173;VQSLOD=6.8122;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,66:131:99:1625,0,1841 2 48809609 48809609 C G exonic STON1;STON1-GTF2A1L nonsynonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.C1837G:p.P613A,STON1-GTF2A1L:NM_001198593:exon2:c.C1837G:p.P613A,STON1:NM_006873:exon2:c.C1837G:p.P613A,STON1-GTF2A1L:NM_172311:exon2:c.C1837G:p.P613A,STON1:NM_001198595:exon3:c.C1837G:p.P613A 0.0014 . . . 0.007 . 0.0042 0.0006 0.0004 0 0.0132 0.0061 0.0033 0 0.0029 0.0009 0.004 . . rs149692974 . . . . . . . . . . . . . 0.01 0.564 D 0.989 0.764 D 0.844 0.688 P 0.000 0.843 D 1.000 0.548 D 2.93 0.848 M 2.01 0.213 T -3.44 0.698 D 0.513 0.702 -1.101 0.039 T 0.086 0.334 T . . . 3.050 0.427 22.4 0.995 0.671 0.973 0.738 D c 0.670 0.665 1.000 0.747 0.706 0.609 0 5.65 0.868 4.094 0.572 0.935 0.490 1.000 0.715 0.997 0.653 14.091 0.644 Mu homology domain . . 0.0038 0.0006 0.0008 0.0022 0 0.0116 0.0055 0.0042 0 0.0043 0.0006 0 0 0 0.0129 0.0052 0.0041 het 1346 118 2 48809609 . C G 1346 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.768;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1405;MQ=59.61;MQ0=0;MQRankSum=1.477;QD=11.41;ReadPosRankSum=2.018;VQSLOD=2.4267;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,53:118:99:1376,0,1688 2 48809629 48809629 G T exonic STON1;STON1-GTF2A1L synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.G1857T:p.V619V,STON1-GTF2A1L:NM_001198593:exon2:c.G1857T:p.V619V,STON1:NM_006873:exon2:c.G1857T:p.V619V,STON1-GTF2A1L:NM_172311:exon2:c.G1857T:p.V619V,STON1:NM_001198595:exon3:c.G1857T:p.V619V 0.027 0.0015 0.037 . 0.1 0.0051 0.0662 0.0152 0.0298 0 0.1435 0.0940 0.0575 0.0159 0.067 0.02 0.091 0.033 0.098 rs17397707 COSM3758267;COSM3758268 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0672 0.0144 0.0339 0.0506 5.798e-05 0.1369 0.0972 0.0688 0.0161 0.0723 0.0188 0.0465 0.0397 0 0.1254 0.1009 0.0754 het 1231.20 106 2 48809629 . G T 1231.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.178;DP=106;Dels=0.00;FS=0.755;HRun=1;HaplotypeScore=0.8321;MQ=59.78;MQ0=0;MQRankSum=-0.070;QD=11.62;ReadPosRankSum=-0.247;VQSLOD=6.4279;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,49:106:99:1261,0,1579 2 48822381 48822381 G A exonic STON1 synonymous SNV STON1:NM_006873:exon4:c.G2148A:p.K716K,STON1:NM_001198595:exon5:c.G2148A:p.K716K 0.49 0.28 0.57 0.56 0.56 0.55 0.5226 0.3135 0.5736 0.5500 0.3611 0.5483 0.5341 0.5651 0.47 0.32 0.55 0.53 0.52 rs2140551 COSM3758269 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5256 0.3082 0.5617 0.6826 0.5476 0.3660 0.5458 0.5510 0.5701 0.4498 0.3224 0.5549 0.6667 0.5375 0.3804 0.5195 0.4633 het 768.88 57 2 48822381 . G A 768.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.349;DP=57;Dels=0.00;FS=7.533;HRun=4;HaplotypeScore=4.8203;MQ=59.23;MQ0=0;MQRankSum=-0.583;QD=13.49;ReadPosRankSum=1.301;VQSLOD=4.5535;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,29:57:99:799,0,772 2 48898798 48898798 T A exonic GTF2A1L;STON1-GTF2A1L synonymous SNV GTF2A1L:NM_001193487:exon7:c.T1206A:p.V402V,STON1-GTF2A1L:NM_001198594:exon7:c.T3279A:p.V1093V,GTF2A1L:NM_006872:exon8:c.T1308A:p.V436V,STON1-GTF2A1L:NM_001198593:exon10:c.T3420A:p.V1140V,STON1-GTF2A1L:NM_172311:exon10:c.T3420A:p.V1140V 0.98 1. 1. 1. 0.97 0.96 0.9739 0.9953 0.9887 0.9999 0.9838 0.9661 0.9736 0.9640 0.98 0.99 0.97 1. 0.99 rs3920390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9745 0.9957 0.9871 0.9613 0.9997 0.9821 0.9661 0.9734 0.9645 0.9775 0.9956 0.9857 0.9636 0.9994 0.9837 0.9630 0.9765 hom 5970.27 187 2 48898798 . T A 5970.27 Mask AC=2;AF=1.00;AN=2;DP=187;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9863;MQ=59.77;MQ0=0;QD=31.93;VQSLOD=7.9055;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,187:187:99:5969,478,0 2 48915871 48915871 A G exonic LHCGR synonymous SNV LHCGR:NM_000233:exon11:c.T1065C:p.D355D 0.59 0.25 0.66 0.92 0.64 0.61 0.6026 0.3063 0.7221 0.9301 0.5818 0.5884 0.6090 0.5995 0.5 0.31 0.59 0.51 0.61 rs11125179 . . Benign|Benign|Benign|Benign not_specified|Hypergonadotropic_hypogonadism|Gonadotropin-independent_familial_sexual_precocity|Leydig_cell_agenesis RCV000249750.1|RCV000260201.1|RCV000334166.1|RCV000388700.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|HP:0000815:C0948896|C0342549:176410:ORPHA3000:237818003|C0266432:238320:56212008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6125 0.2990 0.7080 0.6674 0.9299 0.5727 0.5835 0.6236 0.6003 0.5243 0.3172 0.6859 0.6391 0.9275 0.5719 0.5752 0.5782 hom 4377.04 134 2 48915871 . A G 4377.04 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.33;MQ0=0;QD=32.66;VQSLOD=9.1593;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4377,337,0 2 48921375 48921375 T C exonic LHCGR nonsynonymous SNV LHCGR:NM_000233:exon10:c.A935G:p.N312S 0.59 0.24 0.67 0.93 0.64 0.62 0.6376 0.3287 0.7501 0.9309 0.6049 0.6296 0.6360 0.6340 0.49 0.3 0.59 0.54 0.49 rs2293275 COSM3766585 1(haematopoietic_and_lymphoid_tissue);1(liver) Benign|Benign|Benign|Benign not_specified|Hypergonadotropic_hypogonadism|Gonadotropin-independent_familial_sexual_precocity|Leydig_cell_agenesis RCV000247916.1|RCV000290924.1|RCV000345770.1|RCV000399694.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|HP:0000815:C0948896|C0342549:176410:ORPHA3000:237818003|C0266432:238320:56212008 . . . . . . 0.724 0.124 T 0.004 0.112 B 0.003 0.080 B 0.181 0.171 N 0.621 0.548 P 0.735 0.189 N -0.77 0.779 T 0.08 0.060 N 0.022 0.077 -0.985 0.340 T 0.000 0.000 T . . . -1.046 0.030 0.013 0.928 0.217 0.761 0.370 D c -0.548 -0.425 1.000 0.454 0.495 0.175 0 3.9 0.441 1.188 0.315 0.964 0.580 0.896 0.311 0.354 0.246 9.922 0.404 . ENSG00000068781.16|ENSG00000138039.10|ENSG00000068781.16|ENSG00000170820.7|ENSG00000068781.16|ENSG00000068781.16|ENSG00000068781.16|ENSG00000068781.16 Adipose_Subcutaneous|Adipose_Subcutaneous|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial|Prostate 0.6123 0.2825 0.7067 0.6680 0.9306 0.5707 0.5813 0.6289 0.6125 0.5202 0.3019 0.6850 0.6391 0.9311 0.5717 0.5758 0.5758 hom 695.87 25 2 48921375 . T C 695.87 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=27.83;VQSLOD=8.4892;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:54.18:729,54,0 2 49189921 49189921 C T exonic FSHR nonsynonymous SNV FSHR:NM_181446:exon9:c.G1961A:p.S654N,FSHR:NM_000145:exon10:c.G2039A:p.S680N 0.59 0.6 0.58 0.68 0.55 0.56 0.5727 0.5894 0.6783 0.6765 0.5481 0.5483 0.5264 0.5448 0.56 0.59 0.54 0.58 0.46 rs6166 COSM3927763 1(prostate) drug response|other|Benign|Benign Ovarian_response_to_FSH_stimulation|Ovarian_hyperstimulation_syndrome|not_specified|Ovarian_Dysgenesis RCV000017634.4|RCV000017635.6|RCV000252781.1|RCV000316299.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen C1848715|C0085083:608115:ORPHA64739:129635004|CN169374|C0342510 . . . . . . 0.97 0.033 T 0.0 0.026 B 0.0 0.040 B 0.001 0.405 N 1 0.090 P . . . -0.48 0.703 T -0.38 0.158 N 0.019 0.012 -0.922 0.453 T 0.000 0.000 T . . . 0.020 0.096 2.784 0.182 0.006 0.007 0.029 N c -0.878 -0.862 0.001 0.072 0.487 0.133 0 1.52 0.221 0.053 0.140 0.154 0.240 0.024 0.198 0.988 0.529 9.068 0.354 . ENSG00000170820.7 Testis 0.5738 0.5906 0.6704 0.4780 0.6661 0.5559 0.5480 0.5689 0.5464 0.5749 0.5838 0.6619 0.4467 0.6907 0.5527 0.5604 0.5707 het 2076.62 168 2 49189921 . C T 2076.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.258;DP=168;Dels=0.00;FS=4.503;HRun=1;HaplotypeScore=1.6553;MQ=58.61;MQ0=0;MQRankSum=-0.888;QD=12.36;ReadPosRankSum=-0.273;VQSLOD=5.4174;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,85:168:99:2107,0,2207 2 49191041 49191041 C T exonic FSHR nonsynonymous SNV FSHR:NM_181446:exon9:c.G841A:p.A281T,FSHR:NM_000145:exon10:c.G919A:p.A307T 0.49 0.24 0.58 0.66 0.55 0.54 0.5446 0.2745 0.7001 0.6596 0.5476 0.5470 0.5121 0.5365 0.45 0.29 0.54 0.48 0.34 rs6165 COSM3927764 1(bone);1(pancreas);5(prostate) drug response|Benign|Benign|Benign Ovarian_response_to_FSH_stimulation|not_specified|Ovarian_Dysgenesis|Ovarian_hyperstimulation_syndrome RCV000017633.3|RCV000252249.1|RCV000299214.1|RCV000356409.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT C1848715|CN169374|C0342510|C0085083:608115:ORPHA64739:129635004 . . . . . . 0.445 0.093 T 0.002 0.090 B 0.006 0.112 B 0.929 0.075 N 1 0.090 P 1.85 0.492 L -0.06 0.636 T -0.07 0.080 N 0.091 0.323 -0.926 0.447 T 0.000 0.000 T . . . 0.603 0.152 8.174 0.690 0.086 0.045 0.100 N c -0.688 -0.604 0.000 0.055 0.487 0.133 0 1.76 0.237 0.022 0.133 -0.967 0.023 0.000 0.063 0.971 0.463 4.468 0.110 Gonadotropin hormone receptor\x2c transmembrane domain ENSG00000170820.7 Testis 0.5531 0.2700 0.6904 0.4701 0.6482 0.5553 0.5467 0.5585 0.5381 0.4883 0.2829 0.6842 0.4338 0.6746 0.5524 0.5591 0.5450 het 2988.69 249 2 49191041 . C T 2988.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.503;DP=249;DS;Dels=0.00;FS=6.187;HRun=0;HaplotypeScore=6.9618;MQ=59.01;MQ0=0;MQRankSum=0.357;QD=11.95;ReadPosRankSum=-1.054;VQSLOD=4.6205;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:130,118:249:99:3019,0,3578 2 54587596 54587596 C T exonic C2orf73 nonsynonymous SNV C2orf73:NM_001100396:exon5:c.C761T:p.P254L 0.68 0.64 0.75 0.64 0.79 0.58 0.7586 0.7027 0.7858 0.7153 0.7775 0.7994 0.7684 0.6299 0.76 0.69 0.8 0.66 . rs2280718 . . . . . . . . . . . . . 0.221 0.189 T 0.385 0.327 B 0.161 0.331 B 0.001 0.422 D 0.998 0.365 P 2.47 0.719 M -0.48 0.703 T -2.45 0.691 N 0.112 0.121 -0.977 0.356 T 0.000 0.000 T . . . 3.583 0.488 23.2 0.996 0.723 0.227 0.216 N c -0.422 -0.447 1.000 0.747 0.497 0.185 0 3.18 0.355 1.133 0.308 0.935 0.490 0.520 0.269 0.062 0.172 8.302 0.310 . ENSG00000177994.11|ENSG00000177994.11|ENSG00000177994.11|ENSG00000177994.11|ENSG00000177994.11 Adrenal_Gland|Lung|Pituitary|Testis|Thyroid 0.7420 0.6751 0.7595 0.7472 0.6677 0.7661 0.7899 0.7452 0.6099 0.7486 0.6708 0.7578 0.7384 0.6648 0.7656 0.7968 0.7771 hom 453.85 14 2 54587596 . C T 453.85 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=32.42;VQSLOD=9.4397;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:487,39,0 2 54858511 54858511 C T exonic SPTBN1 synonymous SNV SPTBN1:NM_178313:exon15:c.C3288T:p.N1096N,SPTBN1:NM_003128:exon16:c.C3327T:p.N1109N 0.24 0.043 0.33 0.28 0.34 0.3 0.3090 0.0787 0.3539 0.2937 0.5115 0.3178 0.3370 0.3117 0.23 0.089 0.3 0.22 0.2 rs1052788 COSM148857;COSM5653846 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3175 0.0757 0.3486 0.2237 0.2924 0.4998 0.3169 0.3158 0.3180 0.2861 0.0845 0.3365 0.2053 0.2894 0.5203 0.3412 0.3806 het 2879.45 232 2 54858511 . C T 2879.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.479;DP=232;Dels=0.00;FS=9.437;HRun=0;HaplotypeScore=2.1968;MQ=59.66;MQ0=0;MQRankSum=-0.982;QD=12.41;ReadPosRankSum=1.790;VQSLOD=3.7221;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:117,115:232:99:2909,0,2965 2 54858664 54858664 C T exonic SPTBN1 synonymous SNV SPTBN1:NM_178313:exon15:c.C3441T:p.N1147N,SPTBN1:NM_003128:exon16:c.C3480T:p.N1160N 0.12 0.13 0.095 0.081 0.17 0.08 0.1447 0.1306 0.0632 0.0972 0.1170 0.1856 0.1189 0.0833 0.17 0.13 0.19 0.15 0.16 rs2229503 COSM3758284;COSM3758285 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1391 0.1288 0.0698 0.1322 0.1029 0.1178 0.1871 0.1433 0.0828 0.1480 0.1295 0.0859 0.1358 0.1143 0.1158 0.1748 0.1303 het 1999.97 162 2 54858664 . C T 1999.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.797;DP=162;Dels=0.00;FS=4.703;HRun=0;HaplotypeScore=12.2318;MQ=59.20;MQ0=0;MQRankSum=1.030;QD=12.35;ReadPosRankSum=-0.641;VQSLOD=3.6225;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,81:162:99:2030,0,2321 2 54886347 54886347 G A exonic SPTBN1 synonymous SNV SPTBN1:NM_178313:exon30:c.G6261A:p.P2087P,SPTBN1:NM_003128:exon31:c.G6300A:p.P2100P 0.28 0.15 0.36 0.29 0.35 0.31 0.3276 0.1816 0.3698 0.3008 0.4988 0.3316 0.3529 0.3176 0.28 0.19 0.32 0.29 0.23 rs1052820 COSM148858;COSM4415088 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3352 0.1820 0.3681 0.2598 0.2988 0.4878 0.3316 0.3307 0.3229 0.3211 0.1854 0.3496 0.2383 0.2862 0.5060 0.3561 0.3916 het 2810.79 177 2 54886347 . G A 2810.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.769;DP=177;DS;Dels=0.00;FS=5.681;HRun=0;HaplotypeScore=8.8338;MQ=59.10;MQ0=0;MQRankSum=1.974;QD=15.88;ReadPosRankSum=0.564;VQSLOD=3.8504;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,112:177:99:2841,0,1163 2 55407754 55407754 C T exonic CLHC1 nonsynonymous SNV CLHC1:NM_001135598:exon9:c.G910A:p.V304I,CLHC1:NM_152385:exon11:c.G1276A:p.V426I 0.97 1. 0.99 0.98 0.97 0.89 0.9652 0.9938 0.9845 0.9769 0.9569 0.9729 0.9581 0.9 0.98 0.99 0.98 1. 0.96 rs6716066 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.400 N 1 0.588 P -1.775 0.003 N 1.1 0.390 T 0.15 0.053 N 0.037 0.039 -0.947 0.415 T 0.000 0.000 T . . . 1.064 0.196 11.02 0.737 0.101 0.024 0.067 N c -0.906 -0.655 0.747 0.233 0.638 0.428 0 3.59 0.401 1.627 0.364 0.116 0.208 0.965 0.337 0.990 0.544 7.296 0.254 Armadillo-type fold|Clathrin\x2c heavy chain\x2c linker . . 0.9655 0.9942 0.9869 0.9319 0.9792 0.9568 0.9756 0.9624 0.9010 0.9804 0.9940 0.9869 0.9305 0.9815 0.9568 0.9789 0.9756 hom 4640.31 148 2 55407754 . C T 4640.31 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3302;MQ=59.53;MQ0=0;QD=31.35;VQSLOD=9.4796;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4640,373,0 2 55436934 55436934 G A exonic CLHC1 nonsynonymous SNV CLHC1:NM_001135598:exon4:c.C167T:p.A56V,CLHC1:NM_152385:exon6:c.C533T:p.A178V 0.21 0.37 0.17 0.085 0.21 0.15 0.2075 0.3570 0.1336 0.0811 0.2308 0.2266 0.2051 0.1453 0.27 0.36 0.22 0.21 0.15 rs9677948 COSM3758287;COSM3758288 1(large_intestine) . . . . . . . . . . . 0.196 0.207 T 0.953 0.523 P 0.556 0.476 P 0.052 0.229 N 0.992 0.537 P 2.52 0.738 M 2.13 0.196 T -0.6 0.178 N 0.054 0.047 -0.912 0.467 T 0.000 0.000 T . . . 3.178 0.441 22.7 0.999 0.959 0.746 0.362 D c 0.286 0.272 0.002 0.093 0.615 0.372 0 3.33 0.371 2.436 0.442 1.048 0.713 0.992 0.373 0.990 0.544 5.118 0.141 Translin-associated factor X-interacting protein 1\x2c N-terminal ENSG00000115310.13 Heart_Atrial_Appendage 0.2016 0.3586 0.1417 0.1962 0.0797 0.2279 0.2273 0.2096 0.1464 0.2475 0.3482 0.1778 0.1623 0.0742 0.2184 0.2228 0.2057 hom 2028.39 65 2 55436934 . G A 2028.39 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=31.21;VQSLOD=9.3096;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2061,166,0 2 55490819 55490819 G T exonic MTIF2 nonsynonymous SNV MTIF2:NM_001321004:exon3:c.C176A:p.T59N,MTIF2:NM_001321001:exon4:c.C176A:p.T59N,MTIF2:NM_001321002:exon4:c.C176A:p.T59N,MTIF2:NM_002453:exon4:c.C176A:p.T59N,MTIF2:NM_001005369:exon5:c.C176A:p.T59N,MTIF2:NM_001321003:exon5:c.C176A:p.T59N 0.63 0.44 0.74 0.63 0.79 0.64 0.7309 0.4975 0.7167 0.6600 0.8546 0.7779 0.7583 0.6843 0.69 0.52 0.78 0.62 0.76 rs1056445 . . . . . . . . . . . . . 0.089 0.327 T 0.028 0.184 B 0.019 0.176 B 0.688 0.102 N 1 0.090 P 0.345 0.112 N 0.38 0.576 T -0.44 0.240 N 0.023 0.100 -0.976 0.359 T 0.000 0.000 T . . . -0.957 0.034 0.019 0.470 0.038 0.045 0.100 N c -1.374 -1.356 0.017 0.129 0.732 0.924 0 1.38 0.212 -0.093 0.110 -0.601 0.044 0.000 0.063 0.024 0.140 10.626 0.445 . ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000203327.2|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Stomach|Thyroid|Whole_Blood 0.7352 0.4932 0.7107 0.6822 0.6538 0.8506 0.7815 0.7523 0.6900 0.7115 0.4980 0.7249 0.6523 0.6652 0.8517 0.8046 0.7763 het 1291.40 91 2 55490819 . G T 1291.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.545;DP=91;Dels=0.00;FS=2.826;HRun=1;HaplotypeScore=1.9811;MQ=59.13;MQ0=0;MQRankSum=0.361;QD=14.19;ReadPosRankSum=-1.607;VQSLOD=6.1803;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,46:91:99:1321,0,1286 2 55771161 55771161 A G exonic CFAP36 nonsynonymous SNV CFAP36:NM_080667:exon8:c.A728G:p.D243G,CFAP36:NM_001282761:exon9:c.A803G:p.D268G 0.83 0.98 0.9 0.48 0.94 0.8 0.8996 0.9769 0.9228 0.5090 0.9592 0.9414 0.8764 0.8482 0.95 0.97 0.94 0.89 0.9 rs1045910 COSM4001707;COSM4001706 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.973 0.216 T 0.0 0.026 B 0.0 0.013 B 0.007 0.319 N 1 0.090 P -1.115 0.009 N 2.3 0.170 T 0.32 0.040 N 0.029 0.075 -0.993 0.319 T 0.000 0.000 T . . . 1.497 0.242 13.30 0.775 0.115 0.005 0.022 N c -1.095 -0.861 0.005 0.107 0.706 0.609 0 2.01 0.254 0.280 0.184 -0.246 0.091 0.333 0.254 0.936 0.409 8.478 0.320 . ENSG00000162994.11|ENSG00000162994.11 Adipose_Subcutaneous|Artery_Tibial 0.8990 0.9781 0.9278 0.9183 0.5023 0.9609 0.9406 0.9016 0.8485 0.9328 0.9739 0.9284 0.9172 0.5161 0.9594 0.9486 0.9242 hom 2904.11 90 2 55771161 . A G 2904.11 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=58.97;MQ0=0;QD=32.27;VQSLOD=9.3880;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2937,226,0 2 55883317 55883317 G T exonic PNPT1 synonymous SNV PNPT1:NM_033109:exon17:c.C1390A:p.R464R 0.36 0.32 0.49 0.14 0.58 0.31 0.4805 0.3357 0.4289 0.1568 0.6093 0.5689 0.5342 0.3648 0.49 0.35 0.56 0.4 0.46 rs2627765 . . Benign not_specified RCV000127509.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4861 0.3340 0.4487 0.5504 0.1543 0.6180 0.5664 0.5419 0.3713 0.4869 0.3336 0.4928 0.54 0.1532 0.6122 0.5761 0.5739 het 1721.47 139 2 55883317 . G T 1721.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.604;DP=139;Dels=0.00;FS=1.346;HRun=0;HaplotypeScore=3.6753;MQ=59.10;MQ0=0;MQRankSum=0.154;QD=12.38;ReadPosRankSum=-0.124;VQSLOD=6.4306;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,72:139:99:1751,0,1659 2 55912120 55912120 T C exonic PNPT1 nonsynonymous SNV PNPT1:NM_033109:exon4:c.A361G:p.I121V 0.33 0.32 0.46 0.15 0.52 0.23 0.4287 0.3272 0.4100 0.1603 0.5612 0.5105 0.4813 0.2605 0.45 0.34 0.5 0.35 0.45 rs782572 COSM5002022 1(pancreas);1(large_intestine) Benign not_specified RCV000127514.1 MedGen CN169374 . . . . . . 0.112 0.289 T 0.001 0.067 B 0.005 0.104 B 0.040 0.241 N 0.554 0.313 P -0.895 0.014 N -0.01 0.628 T -0.68 0.195 N 0.044 0.024 -0.920 0.456 T 0.000 0.000 T . . . 1.471 0.239 13.16 0.940 0.234 0.881 0.476 D c -0.553 -0.366 0.000 0.044 0.745 0.986 0 0.133 0.140 2.017 0.404 0.141 0.225 0.994 0.380 0.995 0.604 1.961 0.032 Exoribonuclease\x2c phosphorolytic domain 1|PNPase/RNase PH domain|Ribosomal protein S5 domain 2-type fold ENSG00000138035.10|ENSG00000115380.14|ENSG00000138035.10|ENSG00000138035.10 Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal 0.4326 0.3238 0.4213 0.4816 0.1553 0.5677 0.5062 0.4820 0.2618 0.4487 0.3277 0.4629 0.4371 0.1574 0.5578 0.5196 0.5224 het 827.38 73 2 55912120 . T C 827.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.694;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.36;MQ0=0;MQRankSum=0.636;QD=11.33;ReadPosRankSum=-0.006;VQSLOD=5.6545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,34:73:99:857,0,941 2 58316814 58316814 A G exonic VRK2 nonsynonymous SNV VRK2:NM_001288839:exon6:c.A145G:p.I49V,VRK2:NM_001130480:exon7:c.A499G:p.I167V,VRK2:NM_001130481:exon7:c.A499G:p.I167V,VRK2:NM_001130482:exon7:c.A430G:p.I144V,VRK2:NM_001130483:exon7:c.A499G:p.I167V,VRK2:NM_006296:exon7:c.A499G:p.I167V,VRK2:NM_001288836:exon8:c.A145G:p.I49V,VRK2:NM_001288838:exon9:c.A499G:p.I167V,VRK2:NM_001288837:exon10:c.A499G:p.I167V 0.3 0.065 0.37 0.41 0.4 0.36 0.3576 0.1032 0.3303 0.4308 0.3537 0.3975 0.3631 0.3375 0.3 0.11 0.4 0.25 0.39 rs1051061 COSM4001712 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.072 0.381 T 0.988 0.689 D 0.994 0.807 D 0.000 0.843 D 0.005 0.464 P 1.94 0.524 M 1.65 0.276 T -0.88 0.238 N 0.202 0.375 -0.936 0.433 T 0.000 0.000 T . . . 4.265 0.571 23.9 0.999 0.952 0.919 0.542 D c 0.587 0.592 0.999 0.381 0.732 0.924 0 5.67 0.876 4.875 0.625 1.140 0.893 1.000 0.715 1.000 0.888 14.879 0.700 Protein kinase domain|Protein kinase-like domain . . 0.3585 0.0959 0.3186 0.4437 0.4327 0.3530 0.3949 0.3849 0.3305 0.3098 0.1129 0.3301 0.4497 0.4170 0.3832 0.3886 0.3585 hom 4267.80 139 2 58316814 . A G 4267.80 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6828;MQ=59.55;MQ0=0;QD=30.70;VQSLOD=8.8304;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4267,319,0 2 60687959 60687959 A G exonic BCL11A synonymous SNV BCL11A:NM_018014:exon4:c.T2088C:p.S696S,BCL11A:NM_022893:exon4:c.T2088C:p.S696S 0.83 0.95 0.77 1. 0.6 0.78 0.6977 0.9110 0.8664 0.9988 0.5901 0.5999 0.6359 0.7323 0.71 0.91 0.61 0.78 0.56 rs7569946 COSM3758292;COSM3758293 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7005 0.9161 0.8505 0.5612 0.9988 0.5905 0.6063 0.6540 0.7328 0.7089 0.9088 0.8118 0.5530 0.9994 0.5992 0.5886 0.6311 het 1339.99 99 2 60687959 . A G 1339.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.759;DP=99;Dels=0.00;FS=0.783;HRun=0;HaplotypeScore=2.8048;MQ=59.06;MQ0=0;MQRankSum=0.537;QD=13.54;ReadPosRankSum=-1.176;VQSLOD=6.1063;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,50:99:99:1370,0,1225 2 61175312 61175312 T C exonic PUS10 synonymous SNV PUS10:NM_001322127:exon15:c.A648G:p.K216K,PUS10:NM_001322123:exon16:c.A1317G:p.K439K,PUS10:NM_001322124:exon16:c.A1317G:p.K439K,PUS10:NM_144709:exon16:c.A1317G:p.K439K 0.46 0.57 0.53 0.17 0.69 0.31 0.5680 0.6093 0.4032 0.1750 0.6729 0.6806 0.6200 0.3628 0.65 0.61 0.68 0.6 0.72 rs12479056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5647 0.6144 0.4178 0.7457 0.1664 0.6820 0.6767 0.6317 0.3614 0.6266 0.6185 0.4844 0.7815 0.1506 0.6834 0.6753 0.6102 het 2301.91 150 2 61175312 . T C 2301.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.550;DP=150;Dels=0.00;FS=0.626;HRun=0;HaplotypeScore=2.9617;MQ=59.06;MQ0=0;MQRankSum=-0.011;QD=15.35;ReadPosRankSum=-0.665;VQSLOD=6.3175;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,83:150:99:2332,0,1780 2 61304271 61304271 A G exonic KIAA1841 synonymous SNV KIAA1841:NM_001330432:exon5:c.A210G:p.K70K,KIAA1841:NM_001129993:exon6:c.A648G:p.K216K,KIAA1841:NM_001330433:exon6:c.A648G:p.K216K,KIAA1841:NM_001330434:exon6:c.A648G:p.K216K,KIAA1841:NM_001330435:exon6:c.A648G:p.K216K,KIAA1841:NM_001330436:exon6:c.A648G:p.K216K,KIAA1841:NM_032506:exon6:c.A648G:p.K216K 0.35 0.39 0.43 0.42 0.32 0.18 0.3265 0.3828 0.4104 0.4340 0.2301 0.3248 0.3091 0.2227 0.35 0.38 0.33 0.36 0.34 rs1729659 COSM4416740;COSM148865 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3271 0.3792 0.4028 0.3808 0.4351 0.2260 0.3239 0.3335 0.2234 0.3220 0.3772 0.3866 0.4404 0.4398 0.2291 0.2966 0.2673 het 1587.40 138 2 61304271 . A G 1587.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.561;DP=138;Dels=0.00;FS=9.080;HRun=1;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;MQRankSum=-0.402;QD=11.50;ReadPosRankSum=-1.501;VQSLOD=4.5021;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,60:138:99:1617,0,2133 2 61483548 61483548 A T exonic USP34 nonsynonymous SNV USP34:NM_014709:exon48:c.T6192A:p.H2064Q 0.021 0.003 0.027 . 0.073 0.0082 0.0413 0.0107 0.0270 0.0010 0.0293 0.0607 0.0325 0.0174 0.043 0.013 0.057 0.011 0.066 rs72811482 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 D 0.932 0.370 D -1.435 0.006 N 3.46 0.053 T 1.8 0.005 N 0.092 0.165 -0.902 0.478 T 0.000 0.002 T . . . 0.068 0.100 3.271 0.568 0.055 0.888 0.486 D c -1.046 -0.777 0.997 0.350 0.732 0.924 0 0.517 0.161 1.501 0.351 -0.135 0.110 1.000 0.715 0.998 0.697 5.771 0.174 Peptidase C19\x2c ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain ENSG00000271889.1 Lung 0.0400 0.0089 0.0302 0.0876 0.0005 0.0290 0.0576 0.0449 0.0161 0.0335 0.0116 0.0286 0.0762 0.0006 0.0284 0.0505 0.0327 hom 1862.44 63 2 61483548 . A T 1862.44 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.677;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=-1.622;QD=29.56;ReadPosRankSum=1.347;VQSLOD=7.7157;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,62:63:99:1895,147,0 2 61522123 61522123 T C exonic USP34 synonymous SNV USP34:NM_014709:exon32:c.A4422G:p.E1474E 0.99 1. 0.99 1. 0.98 1. 0.9879 0.9978 0.9902 0.9997 0.9837 0.9820 0.9922 0.9993 0.99 1. 0.98 0.99 0.91 rs13014347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9879 0.9978 0.9897 0.9920 0.9998 0.9859 0.9812 0.9856 0.9994 0.9880 0.9975 0.9940 1 1 0.9871 0.9809 0.9867 hom 2432.51 81 2 61522123 . T C 2432.51 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6305;MQ=58.29;MQ0=0;QD=30.03;VQSLOD=6.0097;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2466,184,0 2 61575308 61575308 A G exonic USP34 nonsynonymous SNV USP34:NM_014709:exon15:c.T1982C:p.M661T 0.99 1. 0.99 1. 0.98 0.99 0.9853 0.9973 0.9874 0.9995 0.9840 0.9798 0.9878 0.9918 0.99 1. 0.98 0.99 0.98 rs6722430 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.543 0.115 N 1 0.090 P -0.695 0.019 N 1.2 0.374 T 0.3 0.041 N 0.013 0.002 -0.980 0.350 T 0.000 0.000 T . . . -0.144 0.081 1.426 0.674 0.081 0.054 0.112 N c -0.731 -0.525 0.054 0.150 0.707 0.730 0 3.83 0.431 1.834 0.386 0.076 0.183 0.981 0.351 0.744 0.320 7.453 0.263 . . . 0.9856 0.9973 0.9874 0.9884 0.9997 0.9860 0.9794 0.9821 0.9917 0.9871 0.9969 0.9916 0.9967 1 0.9871 0.9797 0.9837 hom 2409.69 76 2 61575308 . A G 2409.69 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=31.71;VQSLOD=9.6315;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2443,199,0 2 61577435 61577435 T C exonic USP34 synonymous SNV USP34:NM_014709:exon12:c.A1467G:p.A489A 0.2 0.018 0.24 0.29 0.18 0.36 0.2056 0.0413 0.3618 0.3046 0.1109 0.1605 0.1822 0.3631 0.12 0.044 0.15 0.11 0.16 rs2166720 COSM4001720 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2086 0.0412 0.3437 0.2300 0.2984 0.1060 0.1560 0.1997 0.3561 0.1300 0.0453 0.3150 0.2285 0.3172 0.1106 0.1501 0.1487 hom 2684.57 86 2 61577435 . T C 2684.57 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=31.22;VQSLOD=9.4961;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2718,220,0 2 62066927 62066927 A G exonic FAM161A synonymous SNV FAM161A:NM_001201543:exon3:c.T1212C:p.C404C,FAM161A:NM_032180:exon3:c.T1212C:p.C404C 0.98 1. 0.94 1. 0.96 0.98 0.9759 0.9945 0.9673 0.9961 0.9912 0.9692 0.9844 0.9807 0.98 1. 0.97 0.99 0.95 rs4672457 . . Benign|Benign not_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000082296.4|RCV000273082.1 MedGen|MedGen CN169374|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9755 0.9945 0.9646 0.9677 0.9963 0.9913 0.9692 0.9747 0.9802 0.9823 0.9928 0.9616 0.9768 0.9994 0.9880 0.9745 0.9786 hom 2916.52 85 2 62066927 . A G 2916.52 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.31;VQSLOD=13.3648;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2950,241,0 2 62081012 62081012 A C exonic FAM161A synonymous SNV FAM161A:NM_001201543:exon1:c.T165G:p.A55A,FAM161A:NM_032180:exon1:c.T165G:p.A55A 0.98 1. 0.94 1. 0.96 0.98 0.9759 0.9946 0.9672 0.9965 0.9912 0.9693 0.9844 0.9806 0.98 1. 0.97 0.99 . rs4270331 . . Benign not_specified RCV000173538.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9756 0.9946 0.9644 0.9676 0.9966 0.9913 0.9693 0.9748 0.9802 0.9822 0.9927 0.9618 0.9768 0.9994 0.9880 0.9744 0.9786 hom 1733.50 60 2 62081012 . A C 1733.50 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4525;MQ=58.20;MQ0=0;QD=28.89;VQSLOD=7.3665;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1767,141,0 2 62362995 62362995 T C exonic COMMD1 synonymous SNV COMMD1:NM_001321781:exon3:c.T294C:p.D98D,COMMD1:NM_001321782:exon3:c.T294C:p.D98D,COMMD1:NM_152516:exon3:c.T492C:p.D164D 0.046 0.03 0.06 . 0.13 0.013 0.0880 0.0394 0.0462 0.0005 0.1025 0.1295 0.0727 0.0207 0.098 0.04 0.13 0.022 0.16 rs9096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0874 0.0357 0.0541 0.1537 0.0003 0.1002 0.1277 0.0923 0.0206 0.0849 0.0359 0.0632 0.12 0.0006 0.1065 0.1175 0.0906 het 1462.77 139 2 62362995 . T C 1462.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.789;DP=139;Dels=0.00;FS=0.644;HRun=0;HaplotypeScore=0.9967;MQ=59.43;MQ0=0;MQRankSum=0.436;QD=10.52;ReadPosRankSum=-0.367;VQSLOD=6.4870;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,61:139:99:1493,0,2031 2 62729674 62729674 T C exonic TMEM17 synonymous SNV TMEM17:NM_198276:exon3:c.A216G:p.L72L 0.81 0.86 0.78 0.69 0.87 0.83 0.8545 0.8640 0.7467 0.7030 0.9112 0.8856 0.8389 0.8555 0.88 0.86 0.89 0.72 0.92 rs4672527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8515 0.8668 0.7541 0.8745 0.7015 0.9125 0.8856 0.8499 0.8568 0.8735 0.8690 0.7470 0.8742 0.7098 0.9138 0.8899 0.8959 hom 2096.35 59 2 62729674 . T C 2096.35 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.79;MQ0=0;QD=35.53;VQSLOD=10.0022;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,58:59:99:2129,163,0 2 63176139 63176139 A C exonic EHBP1 nonsynonymous SNV EHBP1:NM_001142614:exon12:c.A2158C:p.K720Q,EHBP1:NM_001142615:exon13:c.A2158C:p.K720Q,EHBP1:NM_001142616:exon13:c.A2158C:p.K720Q,EHBP1:NM_015252:exon14:c.A2263C:p.K755Q 0.061 0.022 0.076 0.035 0.11 0.083 0.1060 0.0415 0.0428 0.0314 0.1372 0.1350 0.0911 0.0992 0.1 0.04 0.13 0.043 0.13 rs17432615 COSM3758299 1(large_intestine) . . . . . . . . . . . 0.015 0.524 D 0.977 0.566 D 0.854 0.591 P 0.000 0.504 D 0.315 0.333 P 2.015 0.552 M -0.9 0.749 T -0.99 0.279 N 0.093 0.160 -0.987 0.334 T 0.010 0.039 T . . . 1.078 0.198 11.10 0.991 0.528 0.994 0.951 D c 0.456 0.478 1.000 0.747 0.615 0.372 0 6.03 0.978 6.173 0.717 1.199 0.960 1.000 0.715 0.861 0.359 16.558 0.843 . ENSG00000115507.5 Whole_Blood 0.1018 0.0387 0.0466 0.0728 0.0284 0.1345 0.1358 0.0925 0.0983 0.1017 0.0412 0.0514 0.0563 0.0309 0.1360 0.1385 0.1299 het 460.07 30 2 63176139 . A C 460.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.588;DP=30;Dels=0.00;FS=5.469;HRun=0;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;MQRankSum=-1.418;QD=15.34;ReadPosRankSum=-1.672;VQSLOD=4.6454;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,18:30:99:490,0,352 2 63660902 63660902 C T exonic WDPCP nonsynonymous SNV WDPCP:NM_001042692:exon3:c.G325A:p.G109S,WDPCP:NM_015910:exon9:c.G802A:p.G268S 0.017 0.0045 0.023 . 0.056 0.0082 0.0475 0.0098 0.0116 0.0002 0.1127 0.0655 0.0525 0.0205 0.045 0.011 0.06 0.033 0.041 rs17617459 . . Benign|other not_specified|Bardet-Biedl_syndrome RCV000249595.1|RCV000395293.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0752166:209900:ORPHA110:5619004 . . . . . . 0.488 0.103 T 0.022 0.174 B 0.018 0.173 B 0.000 0.449 N 0.832 0.287 N 0.625 0.159 N 1.06 0.398 T 0.1 0.058 N 0.081 0.080 -1.087 0.061 T 0.008 0.027 T . . . 0.896 0.180 10.05 0.912 0.199 0.740 0.359 D c -0.364 -0.156 0.004 0.105 0.706 0.609 0 4.56 0.555 0.648 0.243 0.935 0.490 0.988 0.363 0.957 0.436 9.621 0.387 . . . 0.0463 0.0095 0.0146 0.0216 0.0003 0.1155 0.0640 0.0411 0.0198 0.0508 0.0120 0.0143 0.0232 0 0.1127 0.0663 0.0611 het 500.96 61 2 63660902 . C T 500.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.584;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8789;MQ=57.99;MQ0=0;MQRankSum=-0.691;QD=8.21;ReadPosRankSum=0.433;VQSLOD=4.3606;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,21:61:99:531,0,1111 2 64327544 64327544 G T exonic PELI1 synonymous SNV PELI1:NM_020651:exon4:c.C291A:p.T97T 0.36 0.088 0.31 0.75 0.3 0.4 0.3365 0.1288 0.4045 0.7441 0.2897 0.3039 0.3139 0.3577 0.25 0.14 0.3 0.32 0.26 rs329498 COSM5960210 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3410 0.1235 0.3958 0.3067 0.7397 0.2778 0.3059 0.3278 0.3545 0.2649 0.1284 0.3864 0.2947 0.7259 0.2783 0.2827 0.2860 hom 3652.45 113 2 64327544 . G T 3652.45 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=32.32;VQSLOD=9.2046;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3652,274,0 2 64327592 64327592 T C exonic PELI1 synonymous SNV PELI1:NM_020651:exon4:c.A243G:p.L81L 0.35 0.069 0.31 0.75 0.3 0.4 0.3352 0.1113 0.4035 0.7439 0.2907 0.3045 0.3128 0.3577 0.24 0.12 0.3 0.3 0.3 rs329497 COSM3758303 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3412 0.1059 0.3972 0.3077 0.7404 0.2799 0.3069 0.3292 0.3559 0.2609 0.1144 0.3876 0.2947 0.7241 0.2779 0.2825 0.2883 hom 4595.28 158 2 64327592 . T C 4595.28 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4989;MQ=59.09;MQ0=0;QD=29.08;VQSLOD=7.9459;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:4595,343,0 2 65217089 65217089 G C exonic SLC1A4 synonymous SNV SLC1A4:NM_003038:exon1:c.G312C:p.S104S 0.18 0.18 0.12 0.24 0.17 0.16 0.2578 0.2887 0.3030 0.3548 0.3473 0.2776 0.2578 0.1756 0.15 0.16 0.14 0.16 0.074 rs7559202 COSM1752609 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1489 0.1756 0.1285 0.1659 0.2063 0.1389 0.1445 0.1465 0.1454 0.1508 0.1770 0.1432 0.1656 0.2033 0.1424 0.1329 0.1360 het 187.48 16 2 65217089 . G C 187.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.905;DP=16;Dels=0.00;FS=2.158;HRun=1;HaplotypeScore=3.7725;MQ=57.63;MQ0=0;MQRankSum=2.329;QD=11.72;ReadPosRankSum=2.752;VQSLOD=3.1195;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,7:16:99:217,0,234 2 65245365 65245365 G A exonic SLC1A4 nonsynonymous SNV SLC1A4:NM_001193493:exon5:c.G301A:p.V101I,SLC1A4:NM_001348406:exon6:c.G535A:p.V179I,SLC1A4:NM_001348407:exon6:c.G535A:p.V179I,SLC1A4:NM_003038:exon6:c.G1195A:p.V399I 0.19 0.14 0.19 0.11 0.24 0.3 0.2401 0.1671 0.1346 0.1339 0.2347 0.2646 0.2731 0.3170 0.23 0.18 0.26 0.13 0.33 rs759458 COSM4001726 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.392 0.157 T 0.002 0.181 B 0.002 0.133 B 0.029 0.255 N 1 0.090 P 0.045 0.081 N 0.3 0.588 T -0.23 0.107 N 0.045 0.025 -1.015 0.253 T 0.000 0.000 T . . . 0.409 0.133 6.691 0.898 0.185 0.253 0.224 N c -0.993 -0.963 1.000 0.747 0.672 0.522 0 0.22 0.145 0.526 0.225 1.048 0.713 0.005 0.169 0.981 0.494 5.682 0.169 . . . 0.2351 0.1632 0.1415 0.3424 0.1307 0.2301 0.2572 0.2597 0.3167 0.2149 0.1586 0.1559 0.3444 0.1292 0.2350 0.2499 0.2612 het 1992.02 144 2 65245365 . G A 1992.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.435;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7356;MQ=59.15;MQ0=0;MQRankSum=-0.366;QD=13.83;ReadPosRankSum=0.427;VQSLOD=6.5537;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,81:144:99:2022,0,1720 2 65298647 65298649 AAC - exonic CEP68 nonframeshift deletion CEP68:NM_001319100:exon3:c.417_419del:p.T142del,CEP68:NM_001319101:exon3:c.417_419del:p.T142del,CEP68:NM_015147:exon3:c.417_419del:p.T142del 0.074 0.068 0.075 . 0.12 0.11 0.1003 0.0832 0.0498 0.0006 0.1073 0.1191 0.1123 0.1194 0.11 0.087 0.12 . . rs147392467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1002 0.0830 0.0578 0.1303 0.0005 0.1039 0.1220 0.1120 0.1172 0.0972 0.0820 0.0859 0.15 0.0012 0.1057 0.1141 0.0973 het 2216.45 106 2 65298646 . GAAC G 2216.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.471;DP=106;FS=1.625;HRun=0;HaplotypeScore=430.4982;MQ=57.37;MQ0=0;MQRankSum=-1.150;QD=20.91;ReadPosRankSum=-0.125;set=variant2 GT:AD:DP:GQ:PL 0/1:51,55:106:99:2255,0,2633 2 65540905 65540905 C G exonic SPRED2 synonymous SNV SPRED2:NM_001128210:exon6:c.G978C:p.A326A,SPRED2:NM_181784:exon6:c.G987C:p.A329A 0.4 0.11 0.48 0.76 0.25 0.5 0.3473 0.1426 0.5918 0.7695 0.1910 0.2687 0.3086 0.4644 0.22 0.15 0.26 0.39 0.3 rs8827 COSM1409006 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3563 0.1403 0.5694 0.3791 0.7643 0.1893 0.2629 0.3350 0.4579 0.2543 0.1410 0.5048 0.3267 0.7645 0.1829 0.2648 0.2735 hom 6969.80 231 2 65540905 . C G 6969.80 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.592;DP=231;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.4925;MQ=59.48;MQ0=0;MQRankSum=-0.059;QD=30.17;ReadPosRankSum=0.938;VQSLOD=7.1241;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,229:231:99:6924,503,0 2 65541063 65541063 C G exonic SPRED2 nonsynonymous SNV SPRED2:NM_001128210:exon6:c.G820C:p.G274R,SPRED2:NM_181784:exon6:c.G829C:p.G277R 0.0002 . . . 0.001 . 0.0021 0.0001 0.0003 0 0.0012 0.0037 0.0034 6.081e-05 0.0029 0.0005 0.0042 . 0.0082 rs148120209 . . . . . . . . . . . . . 0.689 0.059 T 0.077 0.479 B 0.064 0.498 B 0.000 0.504 D 1.000 0.205 N 2.215 0.627 M -1.06 0.770 T -0.33 0.164 N 0.248 0.390 -0.641 0.631 T 0.387 0.743 T 0.019 0.417 T 2.281 0.335 18.04 0.995 0.693 0.314 0.241 N c -0.292 -0.298 0.990 0.318 0.706 0.609 0 4.74 0.596 0.889 0.277 0.876 0.383 0.915 0.316 0.185 0.214 8.734 0.335 . . . 0.0021 0.0001 0.0009 0.0043 0 0.0006 0.0037 0.0028 9.757e-05 0.0025 0.0002 0.0036 0.0033 0 0.0009 0.0042 0.0041 het 1814.10 150 2 65541063 . C G 1814.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.757;DP=150;Dels=0.00;FS=7.257;HRun=0;HaplotypeScore=7.2492;MQ=59.85;MQ0=0;MQRankSum=0.821;QD=12.09;ReadPosRankSum=-0.656;VQSLOD=2.7231;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,74:150:99:1844,0,2224 2 67630980 67630980 G A exonic ETAA1 nonsynonymous SNV ETAA1:NM_019002:exon5:c.G1166A:p.S389N 0.73 0.87 0.72 0.57 0.73 0.73 0.7030 0.8523 0.6192 0.5651 0.6569 0.7147 0.7301 0.7112 0.76 0.85 0.72 0.79 0.75 rs3770657 COSM148867 1(stomach);1(prostate);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.379 N 1.000 0.090 P -1.87 0.003 N 2.5 0.144 T 2.59 0.002 N 0.022 0.005 -0.980 0.350 T 0.000 0.000 T . . . -1.153 0.027 0.008 0.139 0.003 0.033 0.082 N c -1.081 -0.872 0.998 0.362 0.707 0.730 0 3.4 0.379 2.510 0.449 -0.109 0.115 1.000 0.715 0.289 0.235 8.824 0.340 . ENSG00000236780.1|ENSG00000143971.7 Brain_Cerebellum|Cells_Transformed_fibroblasts 0.6953 0.8532 0.6324 0.7559 0.5666 0.6432 0.7128 0.7259 0.7086 0.7230 0.8476 0.6894 0.7219 0.5585 0.6390 0.6914 0.6944 het 1491.28 110 2 67630980 . G A 1491.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.860;DP=110;Dels=0.00;FS=1.527;HRun=1;HaplotypeScore=2.6939;MQ=58.68;MQ0=0;MQRankSum=0.375;QD=13.56;ReadPosRankSum=0.171;VQSLOD=6.3982;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,60:110:99:1521,0,1299 2 67631831 67631831 G A exonic ETAA1 nonsynonymous SNV ETAA1:NM_019002:exon5:c.G2017A:p.E673K 0.46 0.35 0.54 0.51 0.47 0.48 0.4531 0.3355 0.4925 0.5082 0.4536 0.4563 0.4491 0.4540 0.41 0.34 0.45 0.33 0.43 rs61740794 COSM148868 1(stomach);1(kidney);6(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.986 0.079 N 1 0.090 P -1.195 0.008 N 2.43 0.153 T 1.31 0.009 N 0.023 0.006 -0.920 0.456 T 0.000 0.000 T . . . -0.114 0.083 1.631 0.114 0.002 0.025 0.069 N c -1.325 -1.226 1.000 0.500 0.722 0.854 0 2.87 0.324 0.679 0.248 0.145 0.233 0.001 0.137 0.002 0.062 5.724 0.172 . ENSG00000143971.7 Cells_Transformed_fibroblasts 0.2906 0.2217 0.3427 0.2085 0.4087 0.3303 0.2751 0.3178 0.2306 0.4211 0.3417 0.5072 0.4437 0.4875 0.4404 0.4481 0.4595 het 1224.54 108 2 67631831 . G A 1224.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.686;DP=108;Dels=0.00;FS=0.871;HRun=2;HaplotypeScore=4.4021;MQ=59.09;MQ0=0;MQRankSum=1.314;QD=11.34;ReadPosRankSum=1.109;VQSLOD=5.4971;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,47:108:99:1255,0,1629 2 67632125 67632125 C T exonic ETAA1 nonsynonymous SNV ETAA1:NM_019002:exon5:c.C2311T:p.P771S 0.75 0.92 0.72 0.57 0.73 0.73 0.7077 0.8974 0.6209 0.5650 0.6573 0.7153 0.7345 0.7117 0.78 0.89 0.72 0.8 0.74 rs3770655 COSM148869 1(stomach);1(prostate);2(large_intestine) . . . . . . . . . . . 0.879 0.025 T 0.0 0.026 B 0.0 0.013 B 0.359 0.043 N 1 0.090 P -0.345 0.033 N 2.39 0.157 T 1.55 0.007 N 0.03 0.011 -0.972 0.369 T 0.000 0.000 T . . . -2.263 0.005 0.001 0.186 0.006 0.054 0.111 N c -2.282 -2.258 1.000 0.747 0.732 0.924 0 -8.29 0.009 -0.185 0.096 -1.925 0.005 0.000 0.063 0.000 0.016 0.920 0.012 . ENSG00000236780.1|ENSG00000143971.7 Brain_Cerebellum|Cells_Transformed_fibroblasts 0.6988 0.8961 0.6345 0.7648 0.5664 0.6434 0.7127 0.7286 0.7083 0.7358 0.8901 0.6926 0.7252 0.5613 0.6389 0.6920 0.6975 het 570.86 42 2 67632125 . C T 570.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.057;DP=42;Dels=0.00;FS=2.636;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.057;QD=13.59;ReadPosRankSum=1.233;VQSLOD=6.0708;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,21:42:99:601,0,543 2 68364478 68364478 T C exonic WDR92 nonsynonymous SNV WDR92:NM_001256476:exon6:c.A721G:p.M241V,WDR92:NM_138458:exon6:c.A721G:p.M241V 0.18 0.16 0.2 0.15 0.22 0.16 0.2123 0.1542 0.2407 0.1522 0.1622 0.2446 0.2053 0.1503 0.22 0.16 0.26 0.22 0.23 rs13009282 COSM148870 1(stomach);1(haematopoietic_and_lymphoid_tissue);2(prostate);2(large_intestine) . . . . . . . . . . . 0.114 0.286 T 0.0 0.026 B 0.001 0.040 B 0.000 0.477 D 0.026 0.391 P 1.665 0.427 L -2.53 0.894 D -1.68 0.401 N 0.318 0.429 -1.091 0.053 T 0.000 0.001 T . . . 1.491 0.242 13.27 0.954 0.264 0.957 0.654 D c -0.032 0.159 0.987 0.311 0.732 0.924 0 4.81 0.613 3.410 0.522 1.061 0.807 1.000 0.715 1.000 0.888 12.234 0.536 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.2110 0.1600 0.2316 0.2110 0.1509 0.1601 0.2482 0.2070 0.1503 0.2049 0.1632 0.2387 0.2550 0.1374 0.1617 0.2442 0.1965 het 869.35 98 2 68364478 . T C 869.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.092;DP=98;Dels=0.00;FS=0.786;HRun=0;HaplotypeScore=1.6648;MQ=59.76;MQ0=0;MQRankSum=-1.363;QD=8.87;ReadPosRankSum=-0.059;VQSLOD=5.8041;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,37:98:99:899,0,1563 2 68385097 68385097 A G exonic PNO1 nonsynonymous SNV PNO1:NM_001329916:exon1:c.A31G:p.R11G,PNO1:NM_001329917:exon1:c.A31G:p.R11G,PNO1:NM_020143:exon1:c.A31G:p.R11G 0.77 0.98 0.68 0.65 0.62 0.82 0.7064 0.9334 0.7188 0.6621 0.7040 0.6537 0.7216 0.7929 0.74 0.92 0.65 0.84 0.61 rs2044693 COSM443118 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.475 0.083 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.895 0.014 N 1.51 0.309 T 0.3 0.041 N 0.13 0.149 -1.026 0.218 T 0.000 0.000 T . . . 0.516 0.143 7.553 0.724 0.096 0.000 0.003 N c -1.167 -1.091 1.000 0.747 0.442 0.072 0 2.53 0.295 0.685 0.249 0.138 0.222 0.000 0.063 0.007 0.100 6.802 0.228 . ENSG00000221823.6|ENSG00000115956.9 Artery_Tibial|Brain_Cerebellar_Hemisphere 0.7005 0.9393 0.7112 0.7055 0.6641 0.6978 0.6455 0.6966 0.7913 0.7336 0.9237 0.7261 0.6921 0.6739 0.7021 0.6391 0.7159 hom 1287.17 45 2 68385097 . A G 1287.17 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.60;VQSLOD=13.3494;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1320,105,0 2 68388823 68388823 A G exonic PNO1 synonymous SNV PNO1:NM_001329916:exon3:c.A366G:p.K122K,PNO1:NM_001329917:exon3:c.A366G:p.K122K,PNO1:NM_020143:exon3:c.A366G:p.K122K 0.34 0.081 0.35 0.49 0.33 0.54 0.3567 0.1272 0.3587 0.5053 0.4787 0.3199 0.3996 0.5179 0.24 0.13 0.3 0.28 0.31 rs1137930 COSM3758305 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3627 0.1215 0.3590 0.3525 0.5064 0.4751 0.3107 0.3668 0.5171 0.2916 0.1245 0.3565 0.3245 0.5292 0.4796 0.3085 0.3969 het 850.62 66 2 68388823 . A G 850.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.539;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7094;MQ=57.95;MQ0=0;MQRankSum=0.128;QD=12.89;ReadPosRankSum=1.975;VQSLOD=4.5217;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,33:66:99:881,0,842 2 68415767 68415767 G A exonic PPP3R1 synonymous SNV PPP3R1:NM_000945:exon3:c.C99T:p.D33D 0.52 0.52 0.48 0.49 0.42 0.65 0.4761 0.5092 0.4753 0.5133 0.5409 0.4192 0.5146 0.6380 0.42 0.48 0.39 0.54 . rs687 COSM3758306 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4739 0.4947 0.4709 0.4636 0.5118 0.5402 0.4088 0.4821 0.6351 0.4552 0.4856 0.4797 0.4 0.5360 0.5398 0.4053 0.5102 het 749.71 64 2 68415767 . G A 749.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.075;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5053;MQ=59.42;MQ0=0;MQRankSum=1.686;QD=11.71;ReadPosRankSum=-0.297;VQSLOD=5.1089;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:35,29:64:99:780,0,949 2 68607947 68607947 G T exonic PLEK nonsynonymous SNV PLEK:NM_002664:exon3:c.G291T:p.K97N 0.43 0.3 0.41 0.69 0.27 0.51 0.3537 0.2970 0.5498 0.7102 0.2567 0.2606 0.3436 0.4812 0.27 0.29 0.26 0.34 0.25 rs3816281 . . . . . . . . . . . . . 0.481 0.082 T 0.999 0.764 D 0.947 0.667 D 0.000 0.843 D 0.000 0.588 P 1.445 0.365 L 2.73 0.119 T 0.18 0.050 N 0.126 0.143 -1.123 0.021 T 0.000 0.000 T . . . 4.213 0.565 23.9 0.999 0.937 0.895 0.498 D c 0.292 0.330 1.000 0.473 0.722 0.854 0 4.0 0.455 2.237 0.425 0.143 0.228 1.000 0.715 0.995 0.604 9.895 0.403 PH domain-like|Pleckstrin homology domain ENSG00000115956.9 Whole_Blood 0.3612 0.2978 0.5311 0.3398 0.7038 0.2552 0.2562 0.3389 0.4829 0.2979 0.2972 0.5120 0.3907 0.7410 0.2712 0.2434 0.2908 het 2626.18 204 2 68607947 . G T 2626.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.463;DP=204;DS;Dels=0.00;FS=1.085;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=0.629;QD=12.87;ReadPosRankSum=0.453;VQSLOD=6.6210;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,101:204:99:2656,0,2961 2 68622914 68622914 G A exonic PLEK nonsynonymous SNV PLEK:NM_002664:exon9:c.G1019A:p.R340K 0.86 0.96 0.82 0.93 0.71 0.83 0.7864 0.9313 0.8823 0.9334 0.7196 0.7281 0.7687 0.8142 0.79 0.92 0.72 0.88 0.81 rs1063479 COSM3758308 1(large_intestine) . . . . . . . . . . . 0.939 0.022 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.189 P -0.695 0.019 N -0.87 0.746 T 0.63 0.024 N 0.015 0.003 -0.926 0.447 T 0.000 0.000 T . . . 0.822 0.172 9.597 0.819 0.134 0.280 0.232 N c -0.879 -0.604 1.000 0.747 0.632 0.406 0 4.49 0.540 4.941 0.630 -0.123 0.113 1.000 0.715 0.998 0.697 10.019 0.410 PH domain-like|Pleckstrin homology domain . . 0.7868 0.9372 0.8759 0.8104 0.9358 0.7161 0.7221 0.7645 0.8131 0.7886 0.9248 0.8675 0.8477 0.9485 0.7245 0.7027 0.7664 het 1506.61 86 2 68622914 . G A 1506.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.389;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.19;MQ0=0;MQRankSum=1.705;QD=17.52;ReadPosRankSum=0.563;VQSLOD=5.9921;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,51:86:99:1537,0,984 2 68753240 68753240 T A exonic APLF nonsynonymous SNV APLF:NM_173545:exon6:c.T670A:p.S224T 0.23 0.6 0.12 0.037 0.12 0.12 0.1543 0.5503 0.1012 0.0446 0.0879 0.1310 0.1459 0.1231 0.27 0.54 0.13 0.29 0.15 rs35002937 COSM1409065 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.542 0.115 N 1 0.090 P -1.63 0.004 N 1.96 0.223 T 0.81 0.018 N 0.005 0.000 -0.924 0.450 T 0.000 0.000 T . . . -0.570 0.051 0.147 0.659 0.077 0.001 0.009 N c -1.467 -1.297 0.000 0.042 0.638 0.428 0 3.6 0.402 0.100 0.150 0.197 0.251 0.273 0.248 0.043 0.159 4.105 0.094 . . . 0.1448 0.5553 0.1027 0.2086 0.0468 0.0907 0.1275 0.1408 0.1244 0.2344 0.5444 0.1172 0.2119 0.0476 0.0866 0.1222 0.1380 het 915.94 83 2 68753240 . T A 915.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.634;DP=83;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;MQRankSum=-0.481;QD=11.04;ReadPosRankSum=-0.646;VQSLOD=6.1789;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,37:83:99:946,0,1217 2 68765205 68765205 C T exonic APLF nonsynonymous SNV APLF:NM_173545:exon7:c.C1006T:p.L336F 0.079 0.15 0.073 0.005 0.073 0.072 0.0792 0.1411 0.0661 0.0141 0.0576 0.0827 0.0848 0.0778 0.1 0.14 0.081 0.098 0.057 rs13404469 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.434 0.047 N 1 0.090 P -1.175 0.009 N 1.88 0.239 T 1.06 0.013 N 0.013 0.002 -0.998 0.306 T 0.000 0.001 T . . . -0.455 0.058 0.284 0.681 0.083 0.000 0.002 N c -1.331 -1.204 1.000 0.747 0.638 0.428 0 4.0 0.455 0.543 0.228 -0.208 0.100 0.003 0.159 0.005 0.090 8.088 0.298 . . . 0.0779 0.1398 0.0615 0.1646 0.0147 0.0610 0.0793 0.0868 0.0785 0.0889 0.1416 0.0586 0.1623 0.0136 0.0547 0.0758 0.0726 het 1235.17 83 2 68765205 . C T 1235.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.813;DP=83;Dels=0.00;FS=2.988;HRun=2;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;MQRankSum=-0.078;QD=14.88;ReadPosRankSum=-0.244;VQSLOD=6.2691;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,48:83:99:1265,0,1050 2 68882138 68882138 G T exonic PROKR1 synonymous SNV PROKR1:NM_138964:exon3:c.G612T:p.T204T 0.0054 . 0.013 . 0.015 0.0031 0.0137 0.0033 0.0051 0 0.0364 0.0184 0.0176 0.0053 0.015 0.0043 0.02 . 0.016 rs34234285 COSM3962992 1(lung) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0145 0.0031 0.0056 0.0163 0 0.0358 0.0190 0.0113 0.0062 0.0158 0.0038 0.0048 0.0132 0 0.0332 0.0207 0.0215 het 4350.21 249 2 68882138 . G T 4350.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.825;DP=249;DS;Dels=0.00;FS=2.811;HRun=0;HaplotypeScore=7.1975;MQ=58.97;MQ0=0;MQRankSum=0.759;QD=17.47;ReadPosRankSum=-0.532;VQSLOD=3.9393;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,125:249:99:3663,0,3394 2 69049941 69049941 T C exonic ARHGAP25 nonsynonymous SNV ARHGAP25:NM_001166276:exon9:c.T1649C:p.M550T,ARHGAP25:NM_001166277:exon9:c.T1550C:p.M517T,ARHGAP25:NM_014882:exon9:c.T1646C:p.M549T,ARHGAP25:NM_001007231:exon10:c.T1670C:p.M557T 0.32 0.35 0.32 0.41 0.34 0.17 0.3141 0.3593 0.3229 0.4435 0.3259 0.3207 0.3151 0.1813 0.33 0.36 0.32 0.34 0.3 rs10177248 COSM4133895;COSM4133894 1(thyroid) . . . . . . . . . . . 0.559 0.076 T 0.0 0.026 B 0.0 0.013 B 0.781 0.067 N 1.000 0.186 P 0 0.065 N 2.89 0.441 T -1.42 0.443 N 0.016 0.323 -0.910 0.469 T 0.000 0.000 T . . . -0.852 0.038 0.033 0.329 0.019 0.191 0.203 N c -0.994 -1.017 0.762 0.235 0.625 0.396 0 -1.08 0.094 -0.034 0.121 -1.356 0.013 0.003 0.159 0.037 0.154 9.614 0.387 . . . 0.3139 0.3605 0.3250 0.2194 0.4373 0.3217 0.3290 0.3030 0.1813 0.3351 0.3692 0.3266 0.2351 0.4462 0.3100 0.3132 0.3106 het 1568.54 161 2 69049941 . T C 1568.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.849;DP=161;Dels=0.00;FS=0.589;HRun=0;HaplotypeScore=2.4063;MQ=58.16;MQ0=0;MQRankSum=2.308;QD=9.74;ReadPosRankSum=-1.254;VQSLOD=4.5929;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,68:161:99:1599,0,2491 2 69300191 69300191 T C exonic ANTXR1 synonymous SNV ANTXR1:NM_018153:exon6:c.T450C:p.D150D,ANTXR1:NM_032208:exon6:c.T450C:p.D150D,ANTXR1:NM_053034:exon6:c.T450C:p.D150D 0.005 0.0008 0.0072 . 0.018 0.001 0.0115 0.0024 0.0084 0 0.0064 0.0170 0.0077 0.0058 0.011 0.003 0.016 0.022 0.0082 rs77687153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0111 0.0024 0.0064 0.0147 0 0.0083 0.0169 0.0157 0.0057 0.0087 0.0032 0.0060 0.0232 0 0.0069 0.0133 0.0061 het 1947.07 193 2 69300191 . T C 1947.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.986;DP=193;DS;Dels=0.00;FS=2.935;HRun=0;HaplotypeScore=5.5208;MQ=58.88;MQ0=0;MQRankSum=-0.547;QD=10.09;ReadPosRankSum=0.987;VQSLOD=4.4690;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,80:193:99:1977,0,3082 2 69650730 69650730 G A exonic NFU1 nonsynonymous SNV NFU1:NM_001002755:exon3:c.C286T:p.R96C,NFU1:NM_015700:exon3:c.C214T:p.R72C 0.012 0.0015 0.025 . 0.036 0.0072 0.0199 0.0084 0.0097 0.0003 0.0171 0.0299 0.0199 0.0055 0.028 0.0091 0.037 0.011 0.0082 rs74637005 COSM3758318 1(large_intestine) Benign|Likely benign not_specified|Multiple_mitochondrial_dysfunctions_syndrome RCV000127196.1|RCV000364040.1 MedGen|MedGen CN169374|CN234684 . . . . . . 0.122 0.309 T 0.002 0.151 B 0.002 0.112 B 0.000 0.629 N 0.999 0.810 D -0.36 0.031 N -0.08 0.639 T 5.06 0.000 N 0.049 0.086 -1.109 0.031 T 0.020 0.086 T . . . 3.907 0.526 23.5 0.980 0.371 0.683 0.335 D c -0.371 -0.136 0.002 0.086 0.732 0.924 0 3.6 0.402 4.051 0.569 1.038 0.658 1.000 0.715 0.991 0.552 6.907 0.233 Scaffold protein Nfu/NifU\x2c N-terminal . . 0.0203 0.0073 0.0140 0.0074 0.0002 0.0192 0.0325 0.0202 0.0059 0.0214 0.0062 0.0120 0.0066 0 0.0146 0.0351 0.0184 het 477.87 49 2 69650730 . G A 477.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.614;DP=49;Dels=0.00;FS=4.201;HRun=3;HaplotypeScore=0.0000;MQ=58.46;MQ0=0;MQRankSum=1.739;QD=9.75;ReadPosRankSum=1.088;VQSLOD=4.2625;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,20:49:99:508,0,711 2 69659126 69659126 A T exonic NFU1 startloss NFU1:NM_001002755:exon2:c.T74A:p.M25K,NFU1:NM_015700:exon2:c.T2A:p.L2_M35del 0.32 0.25 0.38 0.21 0.42 0.36 0.3928 0.2832 0.3929 0.2134 0.4119 0.4390 0.3689 0.3632 0.38 0.28 0.43 0.29 0.38 rs4453725 COSM1130747 1(pancreas);1(prostate);3(large_intestine) Benign|Benign not_specified|Multiple_mitochondrial_dysfunctions_syndrome RCV000127198.1|RCV000294034.1 MedGen|MedGen CN169374|CN234684 . . . . . . 0.525 0.614 T 0.039 0.197 B 0.019 0.176 B 0.865 0.071 N 0.000 0.524 P 0.55 0.145 N -0.02 0.629 T -0.55 0.168 N 0.275 0.333 -0.987 0.333 T 0.000 0.000 T . . . -0.293 0.069 0.690 0.845 0.148 0.119 0.168 N c -0.930 -0.888 0.002 0.091 0.732 0.924 0 3.94 0.446 0.886 0.277 -0.122 0.113 0.001 0.137 0.015 0.124 6.884 0.232 . ENSG00000198380.8|ENSG00000169599.8|ENSG00000198380.8|ENSG00000198380.8|ENSG00000198380.8|ENSG00000115977.14|ENSG00000198380.8|ENSG00000115977.14|ENSG00000198380.8|ENSG00000198380.8|ENSG00000198380.8 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.3932 0.2792 0.3943 0.5521 0.2148 0.4090 0.4276 0.4142 0.3581 0.3694 0.2797 0.4125 0.5596 0.2108 0.4100 0.4201 0.4121 het 575.13 45 2 69659126 . A T 575.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.900;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=1.263;QD=12.78;ReadPosRankSum=0.808;VQSLOD=6.0521;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,24:45:99:605,0,513 2 69709919 69709919 A G exonic AAK1 synonymous SNV AAK1:NM_014911:exon18:c.T2391C:p.S797S 0.14 0.21 0.1 0.041 0.19 0.13 0.1430 0.1974 0.0688 0.0340 0.1531 0.1596 0.1636 0.1468 0.17 0.18 0.17 0.16 . rs6721259 COSM3758319;COSM3758320 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1396 0.1962 0.0756 0.0998 0.0333 0.1561 0.1667 0.1377 0.1435 0.1632 0.1936 0.0789 0.0795 0.0470 0.1512 0.1678 0.1548 het 588.13 61 2 69709919 . A G 588.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.319;DP=61;Dels=0.00;FS=1.061;HRun=2;HaplotypeScore=1.6483;MQ=59.62;MQ0=0;MQRankSum=-0.540;QD=9.64;ReadPosRankSum=0.225;VQSLOD=6.2160;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,25:61:99:618,0,1007 2 69736561 69736561 A G exonic AAK1 nonsynonymous SNV AAK1:NM_014911:exon14:c.T1808C:p.V603A 0.014 0.0015 0.026 . 0.042 0.0092 0.0245 0.0095 0.0133 0.0002 0.0173 0.0361 0.0252 0.0093 0.033 0.011 0.043 0.011 . rs56038532 . . . . . . . . . . . . . 0.088 0.323 T 0.001 0.067 B 0.001 0.040 B 0.120 0.190 N 0.750 0.296 N 0.665 0.163 N 1.86 0.243 T -0.6 0.178 N 0.019 0.036 -1.033 0.196 T 0.006 0.020 T . . . 1.882 0.287 15.48 0.949 0.251 0.504 0.284 D c -0.332 -0.079 1.000 0.423 0.732 0.924 0 4.6 0.564 2.224 0.423 1.184 0.906 1.000 0.715 1.000 0.888 3.879 0.085 . . . 0.0237 0.0081 0.0165 0.0126 0.0001 0.0187 0.0377 0.0243 0.0094 0.0228 0.0077 0.0155 0.0099 0 0.0155 0.0364 0.0234 het 394.66 38 2 69736561 . A G 394.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.947;DP=38;Dels=0.00;FS=1.672;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=-1.286;QD=10.39;ReadPosRankSum=1.197;VQSLOD=5.5370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,16:38:99:425,0,562 2 69741801 69741801 C T exonic AAK1 synonymous SNV AAK1:NM_014911:exon13:c.G1578A:p.Q526Q 0.14 0.15 0.099 0.074 0.19 0.17 0.1422 0.1540 0.0659 0.0686 0.1559 0.1529 0.1793 0.1777 0.15 0.13 0.16 0.15 . rs6757825 COSM3758323;COSM3758324 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1355 0.1399 0.0709 0.1014 0.0658 0.1520 0.1568 0.1310 0.1673 0.1415 0.1349 0.0764 0.0762 0.0814 0.1466 0.1552 0.1480 het 432.66 31 2 69741801 . C T 432.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.656;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7356;MQ=60.00;MQ0=0;MQRankSum=0.588;QD=13.96;ReadPosRankSum=0.223;VQSLOD=5.6568;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,19:31:99:463,0,348 2 69741854 69741854 T G exonic AAK1 nonsynonymous SNV AAK1:NM_014911:exon13:c.A1525C:p.K509Q 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1 1 0.9999 . . . 1. . rs6715776 COSM4590133 10(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.507 0.119 N 1 0.090 P -0.895 0.014 N 1.82 0.250 T 0.73 0.021 N 0.045 0.034 -0.962 0.388 T 0.000 0.000 T . . . 0.913 0.181 10.15 0.758 0.109 0.064 0.122 N c -0.750 -0.492 1.000 0.747 0.722 0.854 0 4.52 0.546 2.745 0.469 0.136 0.221 1.000 0.715 0.854 0.356 9.935 0.405 . . . 1.0000 1 1 1 1 1 1 1 0.9999 1 1 1 1 1 1 1 1 hom 1026.67 36 2 69741854 . T G 1026.67 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=28.52;VQSLOD=7.6868;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:78.25:1060,78,0 2 70162534 70162534 T G exonic MXD1 synonymous SNV MXD1:NM_001202514:exon3:c.T225G:p.L75L,MXD1:NM_001202513:exon4:c.T255G:p.L85L,MXD1:NM_002357:exon4:c.T255G:p.L85L 0.58 0.85 0.4 0.54 0.44 0.54 0.4799 0.7963 0.4018 0.5702 0.4988 0.4314 0.4471 0.4784 0.55 0.78 0.43 0.65 0.4 rs2228183 COSM3758325 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4681 0.8010 0.3977 0.3880 0.5664 0.4873 0.4303 0.4455 0.4772 0.5529 0.8034 0.4200 0.3907 0.5620 0.4854 0.4373 0.4806 het 1188.23 109 2 70162534 . T G 1188.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.432;DP=109;Dels=0.00;FS=3.570;HRun=2;HaplotypeScore=2.8376;MQ=58.54;MQ0=0;MQRankSum=1.163;QD=10.90;ReadPosRankSum=-0.418;VQSLOD=5.7586;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,48:109:99:1218,0,1542 2 70188676 70188676 T C exonic ASPRV1 nonsynonymous SNV ASPRV1:NM_152792:exon1:c.A145G:p.T49A 0.7 0.91 0.74 0.68 0.5 0.59 0.5972 0.8586 0.7967 0.6955 0.6125 0.5227 0.5463 0.5382 0.63 0.85 0.52 0.77 0.53 rs3796097 . . . . . . . . . . . . . 0.523 0.072 T 0.002 0.090 B 0.001 0.040 B 0.977 0.078 N 1 0.090 P 0.115 0.086 N 0.95 0.433 T -1.02 0.268 N 0.01 0.001 -1.018 0.245 T 0.000 0.000 T . . . -1.429 0.019 0.003 0.291 0.015 0.006 0.027 N c -1.686 -1.742 0.992 0.325 0.516 0.203 0 -4.7 0.030 -0.862 0.043 -1.457 0.011 0.000 0.063 0.000 0.016 11.871 0.516 . ENSG00000035141.3|ENSG00000115998.3 Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts 0.5985 0.8651 0.7791 0.4734 0.6968 0.5960 0.5229 0.5723 0.5328 0.6456 0.8514 0.7542 0.4536 0.6886 0.5889 0.5350 0.5980 het 998.55 76 2 70188676 . T C 998.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.734;DP=76;Dels=0.00;FS=0.968;HRun=0;HaplotypeScore=3.2261;MQ=59.20;MQ0=0;MQRankSum=-0.058;QD=13.14;ReadPosRankSum=-0.504;VQSLOD=6.5280;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,36:76:99:1029,0,988 2 70677994 70677994 G A exonic TGFA synonymous SNV TGFA:NM_001099691:exon6:c.C477T:p.V159V,TGFA:NM_001308158:exon6:c.C498T:p.V166V,TGFA:NM_001308159:exon6:c.C495T:p.V165V,TGFA:NM_003236:exon6:c.C480T:p.V160V 0.21 0.13 0.13 0.29 0.26 0.23 0.2615 0.1790 0.1034 0.3107 0.3407 0.2931 0.2848 0.2329 0.24 0.17 0.27 0.18 0.31 rs2166975 COSM330436 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2399 0.1624 0.1089 0.2123 0.2974 0.3098 0.2746 0.2371 0.2233 0.2515 0.1630 0.1280 0.1689 0.3109 0.3168 0.2892 0.2638 hom 846.03 28 2 70677994 . G A 846.03 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;QD=30.22;VQSLOD=8.6060;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:69.20:879,69,0 2 71043461 71043461 C T exonic CLEC4F nonsynonymous SNV CLEC4F:NM_001258027:exon4:c.G1052A:p.R351H,CLEC4F:NM_001321308:exon4:c.G1052A:p.R351H,CLEC4F:NM_173535:exon4:c.G1052A:p.R351H 0.34 0.12 0.4 0.52 0.31 0.43 0.3313 0.1555 0.4282 0.5345 0.3568 0.3015 0.3227 0.3786 0.26 0.17 0.3 0.34 0.29 rs722896 COSM4001732 3(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.002 0.126 B 0.001 0.040 B 0.298 0.039 N 1 0.090 P -0.66 0.021 N -1.66 0.827 D 0.38 0.036 N 0.015 0.002 -1.040 0.174 T 0.000 0.000 T . . . 0.715 0.162 8.923 0.878 0.170 0.007 0.030 N c -1.371 -1.396 0.024 0.135 0.497 0.185 0 -5.05 0.027 -0.682 0.052 -0.295 0.082 0.000 0.063 0.224 0.222 11.540 0.497 . ENSG00000152672.3 Whole_Blood 0.3351 0.1518 0.4149 0.2341 0.5300 0.3500 0.3018 0.3253 0.3746 0.2713 0.1473 0.3837 0.2318 0.4969 0.3426 0.2949 0.3047 het 1528.34 115 2 71043461 . C T 1528.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.783;DP=115;Dels=0.00;FS=4.834;HRun=0;HaplotypeScore=4.8438;MQ=59.24;MQ0=0;MQRankSum=-0.279;QD=13.29;ReadPosRankSum=1.089;VQSLOD=4.9893;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,55:115:99:1558,0,1473 2 71044211 71044211 C T exonic CLEC4F nonsynonymous SNV CLEC4F:NM_001258027:exon4:c.G302A:p.R101Q,CLEC4F:NM_001321308:exon4:c.G302A:p.R101Q,CLEC4F:NM_173535:exon4:c.G302A:p.R101Q 0.33 0.028 0.4 0.52 0.38 0.44 0.3759 0.0795 0.4329 0.5349 0.5020 0.3728 0.3678 0.4014 0.28 0.096 0.37 0.3 0.33 rs2075221 COSM5425495 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.100 0.199 N 1 0.090 P -2.045 0.002 N 5.0 0.014 T 1.3 0.010 N 0.019 0.004 -1.032 0.198 T 0.000 0.000 T . . . -0.017 0.092 2.424 0.182 0.006 0.001 0.004 N c -1.326 -1.140 0.009 0.118 0.447 0.083 0 3.88 0.438 0.276 0.183 -0.022 0.129 0.095 0.225 0.192 0.215 7.714 0.277 . ENSG00000152672.3|ENSG00000152672.3 Spleen|Whole_Blood 0.3805 0.0731 0.4221 0.2568 0.5306 0.4978 0.3727 0.3702 0.3939 0.3147 0.0823 0.3981 0.2483 0.4981 0.4960 0.3798 0.3929 het 1004.26 67 2 71044211 . C T 1004.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.540;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8100;MQ=59.66;MQ0=0;MQRankSum=-0.220;QD=14.99;ReadPosRankSum=0.824;VQSLOD=6.4305;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,36:67:99:1034,0,763 2 71058226 71058226 C T exonic CD207 synonymous SNV CD207:NM_015717:exon6:c.G942A:p.T314T 0.14 0.039 0.24 0.079 0.22 0.17 0.2174 0.0668 0.2814 0.0826 0.2092 0.2547 0.2283 0.1837 0.19 0.064 0.25 0.11 . rs2080390 COSM3721180 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2217 0.0687 0.2741 0.2529 0.0815 0.2180 0.2562 0.2272 0.1860 0.1952 0.0740 0.2554 0.2517 0.0813 0.2201 0.2649 0.2378 het 1098.70 86 2 71058226 . C T 1098.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.575;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=59.03;MQ0=0;MQRankSum=0.436;QD=12.78;ReadPosRankSum=0.540;VQSLOD=6.6972;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,44:86:99:1129,0,1196 2 71058835 71058835 A G exonic CD207 nonsynonymous SNV CD207:NM_015717:exon5:c.T833C:p.V278A 0.55 0.52 0.48 0.65 0.47 0.58 0.4755 0.4838 0.4706 0.6423 0.5414 0.4278 0.4532 0.5548 0.44 0.47 0.42 0.48 . rs741326 . . . . . . . . . . . . . 0.8 0.031 T 0.0 0.026 B 0.0 0.013 B 0.152 0.030 N 1 0.090 P -0.565 0.023 N 2.33 0.165 T 0.74 0.020 N 0.024 0.075 -0.960 0.392 T 0.000 0.000 T . . . -3.136 0.001 0.001 0.254 0.012 0.002 0.011 N c -2.352 -2.379 1.000 0.747 0.497 0.185 0 -9.57 0.005 -1.825 0.018 -3.038 0.001 0.000 0.063 0.000 0.016 1.358 0.020 C-type lectin|C-type lectin fold|C-type lectin-like . . 0.4735 0.4795 0.4681 0.3430 0.6357 0.5335 0.4276 0.4556 0.5530 0.4627 0.4791 0.4678 0.3146 0.6388 0.5381 0.4196 0.4582 het 1717.88 127 2 71058835 . A G 1717.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.052;DP=127;Dels=0.00;FS=5.169;HRun=0;HaplotypeScore=1.6644;MQ=58.90;MQ0=0;MQRankSum=0.066;QD=13.53;ReadPosRankSum=0.888;VQSLOD=5.7274;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,68:127:99:1748,0,1615 2 71060111 71060111 G A exonic CD207 nonsynonymous SNV CD207:NM_015717:exon4:c.C637T:p.P213S 0.019 0.0008 0.039 . 0.063 0.0051 0.0362 0.0114 0.0297 0.0001 0.0209 0.0536 0.0268 0.0110 0.044 0.013 0.059 0.033 . rs17006436 . . . . . . . . . . . . . 0.594 0.057 T 0.0 0.026 B 0.001 0.040 B 0.065 0.022 N 1 0.090 N 0.235 0.097 N 2.23 0.181 T 0.25 0.045 N 0.027 0.009 -0.999 0.302 T 0.002 0.006 T . . . -3.501 0.000 0.001 0.227 0.009 0.003 0.016 N c -2.858 -2.931 1.000 0.747 0.497 0.185 0 -10.7 0.002 -7.163 0.001 -2.895 0.002 0.000 0.063 0.001 0.043 0.188 0.001 C-type lectin|C-type lectin fold|C-type lectin-like . . 0.0348 0.0108 0.0298 0.0159 5.798e-05 0.0197 0.0560 0.0420 0.0108 0.0286 0.0099 0.0334 0.0232 0 0.0175 0.0450 0.0295 het 1331.05 78 2 71060111 . G A 1331.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.411;DP=78;Dels=0.00;FS=3.263;HRun=2;HaplotypeScore=1.9930;MQ=60.00;MQ0=0;MQRankSum=-0.401;QD=17.06;ReadPosRankSum=-0.578;VQSLOD=5.9922;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,50:78:99:1361,0,748 2 71061108 71061108 G A exonic CD207 synonymous SNV CD207:NM_015717:exon3:c.C234T:p.V78V 0.14 0.11 0.22 0.097 0.18 0.14 0.2088 0.1361 0.2875 0.1003 0.1837 0.2276 0.2154 0.1702 0.18 0.12 0.22 0.11 . rs17662453 COSM3758336 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1976 0.1262 0.2628 0.2019 0.0913 0.1857 0.2211 0.1983 0.1514 0.1903 0.1351 0.2375 0.2119 0.0915 0.1852 0.2298 0.2128 het 227.85 26 2 71061108 . G A 227.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.495;DP=26;Dels=0.00;FS=4.060;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.026;QD=8.76;ReadPosRankSum=-0.026;VQSLOD=5.9184;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,12:26:99:258,0,455 2 71163173 71163173 C T exonic ATP6V1B1 nonsynonymous SNV ATP6V1B1:NM_001692:exon1:c.C89T:p.T30I 0.16 0.12 0.21 0.19 0.15 0.15 0.1802 0.1349 0.2702 0.2222 0.1557 0.1750 0.1967 0.1535 0.16 0.14 0.17 0.14 0.11 rs17720303 COSM4001733 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Renal_tubular_acidosis_with_progressive_nerve_deafness RCV000037210.4|RCV000365413.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0403554:267300:236532003 . . . . . . 0.141 0.263 T 0.0 0.026 B 0.001 0.040 B 0.000 0.513 D 0.000 0.506 P 0.99 0.251 L -1.64 0.826 D -1.51 0.381 N 0.275 0.396 -1.098 0.043 T 0.000 0.001 T . . . 3.174 0.441 22.7 0.996 0.730 0.808 0.400 D c -0.174 0.009 1.000 0.747 0.616 0.391 0 4.89 0.632 1.754 0.378 0.721 0.304 0.986 0.359 0.990 0.544 15.559 0.759 . . . 0.1850 0.1340 0.2695 0.2233 0.2169 0.1605 0.1722 0.1899 0.1511 0.1665 0.1290 0.2656 0.2285 0.2438 0.1479 0.1777 0.1636 het 1858.30 132 2 71163173 . C T 1858.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.274;DP=132;Dels=0.00;FS=3.306;HRun=0;HaplotypeScore=2.6432;MQ=58.36;MQ0=0;MQRankSum=1.207;QD=14.08;ReadPosRankSum=-0.835;VQSLOD=4.7048;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,75:132:99:1888,0,1320 2 71190384 71190384 C T exonic ATP6V1B1 synonymous SNV ATP6V1B1:NM_001692:exon10:c.C1002T:p.R334R 0.44 0.15 0.49 0.65 0.46 0.54 0.4690 0.1753 0.5725 0.6537 0.4043 0.4502 0.4570 0.5870 0.36 0.18 0.45 0.39 0.34 rs2072462 COSM4133908 2(thyroid) Benign|Benign not_specified|Renal_tubular_acidosis_with_progressive_nerve_deafness RCV000037201.3|RCV000324556.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0403554:267300:236532003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4770 0.1651 0.5633 0.5116 0.6535 0.3944 0.4492 0.4808 0.5871 0.3818 0.1821 0.5168 0.4667 0.6538 0.4190 0.4471 0.4418 het 1126 107 2 71190384 . C T 1126 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.037;DP=107;Dels=0.00;FS=0.765;HRun=0;HaplotypeScore=6.8552;MQ=59.38;MQ0=0;MQRankSum=1.377;QD=10.52;ReadPosRankSum=1.237;VQSLOD=4.4703;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,46:107:99:1156,0,1576 2 71221822 71221822 A G exonic TEX261 synonymous SNV TEX261:NM_144582:exon1:c.T66C:p.A22A 0.36 0.59 0.45 0.19 0.32 0.22 0.3625 0.5716 0.5144 0.2790 0.3180 0.3441 0.3302 0.2719 0.38 0.55 0.29 0.36 0.17 rs2302561 COSM1752638 2(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3112 0.5464 0.4621 0.2736 0.2410 0.2422 0.2835 0.3105 0.2378 0.3584 0.5630 0.4215 0.2815 0.2413 0.2553 0.2780 0.3002 het 121.91 21 2 71221822 . A G 121.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.295;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;MQRankSum=1.050;QD=5.81;ReadPosRankSum=-1.485;VQSLOD=5.0354;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,8:21:99:152,0,358 2 71305456 71305456 C T exonic NAGK synonymous SNV NAGK:NM_001330425:exon9:c.C700T:p.L234L,NAGK:NM_001330426:exon10:c.C700T:p.L234L,NAGK:NM_017567:exon10:c.C991T:p.L331L 0.83 0.87 0.68 1. 0.7 0.84 0.7424 0.8279 0.6289 0.9985 0.7318 0.7002 0.7302 0.8092 0.74 0.82 0.7 0.83 0.61 rs6713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7373 0.8348 0.6288 0.7840 0.9979 0.7256 0.6954 0.7307 0.8066 0.7504 0.8381 0.6527 0.7633 0.9981 0.7214 0.6867 0.7193 het 1698.83 119 2 71305456 . C T 1698.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.168;DP=119;Dels=0.00;FS=5.719;HRun=2;HaplotypeScore=0.0000;MQ=55.86;MQ0=0;MQRankSum=1.444;QD=14.28;ReadPosRankSum=0.582;VQSLOD=2.7805;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,62:119:99:1729,0,1458 2 71351487 71351487 G A exonic MCEE nonsynonymous SNV MCEE:NM_032601:exon2:c.C227T:p.A76V 0.18 0.032 0.27 0.045 0.4 0.25 0.3056 0.0737 0.2665 0.0540 0.4093 0.3727 0.3554 0.2953 0.27 0.081 0.37 0.15 0.34 rs11541017 COSM1409252 1(prostate) Benign|Benign not_specified|Methylmalonic_acidemia RCV000126701.2|RCV000279982.1 MedGen|MedGen:SNOMED_CT CN169374|C0268583:42393006 . . . . . . 0.248 0.172 T 0.015 0.158 B 0.003 0.080 B 0.690 0.102 N 1 0.090 P -0.395 0.030 N 0.01 0.625 T -0.45 0.148 N 0.027 0.009 -0.972 0.368 T 0.000 0.000 T . . . 0.817 0.172 9.567 0.874 0.166 0.073 0.132 N c -1.322 -1.331 0.959 0.284 0.707 0.730 0 -4.05 0.037 -0.130 0.104 -2.022 0.005 0.000 0.063 0.818 0.342 7.096 0.243 Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase ENSG00000124370.6|ENSG00000124370.6|ENSG00000124370.6 Artery_Aorta|Muscle_Skeletal|Nerve_Tibial 0.3094 0.0681 0.2631 0.4267 0.0530 0.4141 0.3664 0.3357 0.2988 0.2724 0.0811 0.2739 0.3675 0.0512 0.4065 0.3690 0.3541 het 1507.41 116 2 71351487 . G A 1507.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.505;DP=116;Dels=0.00;FS=7.298;HRun=0;HaplotypeScore=1.6671;MQ=59.08;MQ0=0;MQRankSum=0.196;QD=12.99;ReadPosRankSum=0.190;VQSLOD=5.2674;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,58:116:99:1537,0,1508 2 71417065 71417065 G T exonic PAIP2B synonymous SNV PAIP2B:NM_020459:exon3:c.C225A:p.P75P 0.96 0.96 0.94 1. 0.91 0.97 0.9346 0.9523 0.9688 0.9974 0.9084 0.9114 0.9314 0.9734 0.92 0.95 0.91 0.97 . rs357777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9350 0.9522 0.9629 0.9543 0.9978 0.9100 0.9076 0.9327 0.9726 0.9236 0.9508 0.9653 0.9404 0.9994 0.9156 0.8994 0.9122 hom 1495.92 49 2 71417065 . G T 1495.92 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9237;MQ=59.53;MQ0=0;QD=30.53;VQSLOD=8.4026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1529,126,0 2 71633275 71633275 T C exonic ZNF638 synonymous SNV ZNF638:NM_001014972:exon19:c.T3018C:p.I1006I,ZNF638:NM_001252612:exon19:c.T3018C:p.I1006I,ZNF638:NM_001252613:exon19:c.T3018C:p.I1006I,ZNF638:NM_014497:exon19:c.T3018C:p.I1006I 0.41 0.16 0.64 0.29 0.55 0.57 0.5246 0.2170 0.6619 0.3101 0.5086 0.5720 0.5298 0.5496 0.46 0.23 0.58 0.33 0.49 rs3732233 COSM4418629 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5345 0.2130 0.6610 0.5838 0.3074 0.5083 0.5726 0.5504 0.5464 0.4469 0.2248 0.6360 0.5695 0.3123 0.5235 0.5548 0.5215 het 2280.73 177 2 71633275 . T C 2280.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.525;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7972;MQ=59.27;MQ0=0;MQRankSum=0.982;QD=12.89;ReadPosRankSum=-0.827;VQSLOD=6.5071;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,92:177:99:2311,0,2196 2 71633389 71633389 C T exonic ZNF638 synonymous SNV ZNF638:NM_001014972:exon19:c.C3132T:p.N1044N,ZNF638:NM_001252612:exon19:c.C3132T:p.N1044N,ZNF638:NM_001252613:exon19:c.C3132T:p.N1044N,ZNF638:NM_014497:exon19:c.C3132T:p.N1044N 0.42 0.22 0.62 0.29 0.55 0.57 0.5269 0.2579 0.6460 0.3091 0.5083 0.5727 0.5265 0.5500 0.47 0.27 0.58 0.34 0.47 rs6714975 COSM4133909 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5352 0.2550 0.6432 0.6040 0.3067 0.5081 0.5721 0.5486 0.5464 0.4579 0.2643 0.6208 0.5728 0.3152 0.5238 0.5548 0.5235 het 695.61 66 2 71633389 . C T 695.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.131;DP=66;Dels=0.00;FS=4.145;HRun=0;HaplotypeScore=0.6651;MQ=59.43;MQ0=0;MQRankSum=-0.058;QD=10.54;ReadPosRankSum=2.030;VQSLOD=5.7643;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,28:66:99:726,0,1059 2 71795152 71795152 A T exonic DYSF synonymous SNV DYSF:NM_001130976:exon24:c.A2541T:p.S847S,DYSF:NM_001130977:exon24:c.A2541T:p.S847S,DYSF:NM_001130984:exon24:c.A2544T:p.S848S,DYSF:NM_001130986:exon24:c.A2544T:p.S848S,DYSF:NM_001130455:exon25:c.A2586T:p.S862S,DYSF:NM_001130978:exon25:c.A2583T:p.S861S,DYSF:NM_001130980:exon25:c.A2634T:p.S878S,DYSF:NM_001130981:exon25:c.A2634T:p.S878S,DYSF:NM_001130983:exon25:c.A2586T:p.S862S,DYSF:NM_001130985:exon25:c.A2637T:p.S879S,DYSF:NM_001130987:exon25:c.A2637T:p.S879S,DYSF:NM_003494:exon25:c.A2583T:p.S861S,DYSF:NM_001130979:exon26:c.A2676T:p.S892S,DYSF:NM_001130982:exon26:c.A2679T:p.S893S 0.55 0.81 0.56 0.19 0.66 0.44 0.6042 0.8104 0.5041 0.1531 0.6539 0.6741 0.5804 0.4792 0.72 0.81 0.67 0.66 0.7 rs2288355 COSM3766590;COSM3766591 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) other|Benign|Benign not_specified|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Miyoshi_myopathy RCV000080254.10|RCV000283608.1|RCV000378035.1 MedGen|MedGen|MedGen CN169374|CN239352|CN230453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5973 0.8099 0.5244 0.6267 0.1540 0.6429 0.6773 0.6220 0.4821 0.6825 0.8158 0.5659 0.6391 0.1452 0.6381 0.6830 0.6471 het 2315.54 180 2 71795152 . A T 2315.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.496;DP=180;Dels=0.00;FS=5.493;HRun=0;HaplotypeScore=2.9874;MQ=59.50;MQ0=0;MQRankSum=-0.641;QD=12.86;ReadPosRankSum=-0.391;VQSLOD=5.3664;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:96,84:180:99:2346,0,2668 2 71838597 71838597 C A exonic DYSF synonymous SNV DYSF:NM_001130976:exon37:c.C3966A:p.I1322I,DYSF:NM_001130977:exon37:c.C3966A:p.I1322I,DYSF:NM_001130984:exon37:c.C3969A:p.I1323I,DYSF:NM_001130986:exon37:c.C3969A:p.I1323I,DYSF:NM_001130455:exon38:c.C4011A:p.I1337I,DYSF:NM_001130978:exon38:c.C4008A:p.I1336I,DYSF:NM_001130980:exon38:c.C4059A:p.I1353I,DYSF:NM_001130981:exon38:c.C4059A:p.I1353I,DYSF:NM_001130983:exon38:c.C4011A:p.I1337I,DYSF:NM_001130985:exon38:c.C4062A:p.I1354I,DYSF:NM_001130987:exon38:c.C4062A:p.I1354I,DYSF:NM_003494:exon38:c.C4008A:p.I1336I,DYSF:NM_001130979:exon39:c.C4101A:p.I1367I,DYSF:NM_001130982:exon39:c.C4104A:p.I1368I 0.45 0.36 0.53 0.48 0.54 0.39 0.5015 0.3984 0.5378 0.4644 0.5433 0.5307 0.4768 0.4265 0.47 0.4 0.51 0.49 0.51 rs2303606 COSM5618884;COSM5618883 2(breast) other|Benign|Benign not_specified|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Miyoshi_myopathy RCV000080282.10|RCV000288114.1|RCV000382443.1 MedGen|MedGen|MedGen CN169374|CN239352|CN230453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5044 0.3936 0.5380 0.5931 0.4676 0.5369 0.5209 0.5283 0.4277 0.4732 0.3967 0.5680 0.6060 0.4586 0.5330 0.4952 0.5072 het 1251.27 132 2 71838597 . C A 1251.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.982;DP=132;Dels=0.00;FS=5.448;HRun=0;HaplotypeScore=2.3070;MQ=59.08;MQ0=0;MQRankSum=0.352;QD=9.48;ReadPosRankSum=0.016;VQSLOD=5.5126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,52:132:99:1281,0,2075 2 72707874 72707874 A G exonic EXOC6B synonymous SNV EXOC6B:NM_001321734:exon16:c.T1332C:p.V444V,EXOC6B:NM_001321729:exon17:c.T1671C:p.V557V,EXOC6B:NM_001321731:exon17:c.T1671C:p.V557V,EXOC6B:NM_015189:exon17:c.T1671C:p.V557V 0.35 0.95 0.21 0.0069 0.23 0.091 0.3220 0.8457 0.25 0.0122 0.2480 0.3143 0.2574 0.1328 0.41 0.8 0.23 0.53 . rs653220 COSM3758354;COSM3758353 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2232 0.8511 0.1544 0.2143 0.0067 0.1900 0.2351 0.2329 0.1019 0.3816 0.8282 0.1962 0.2450 0.0093 0.1946 0.2285 0.2378 het 418.56 25 2 72707874 . A G 418.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.413;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8446;MQ=58.49;MQ0=0;MQRankSum=1.359;QD=16.74;ReadPosRankSum=0.194;VQSLOD=5.2925;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,15:25:99:449,0,243 2 72958333 72958333 T C exonic EXOC6B synonymous SNV EXOC6B:NM_001321734:exon3:c.A30G:p.Q10Q,EXOC6B:NM_001321729:exon4:c.A369G:p.Q123Q,EXOC6B:NM_001321730:exon4:c.A369G:p.Q123Q,EXOC6B:NM_001321731:exon4:c.A369G:p.Q123Q,EXOC6B:NM_001321733:exon4:c.A369G:p.Q123Q,EXOC6B:NM_015189:exon4:c.A369G:p.Q123Q 0.2 0.6 0.099 0.001 0.12 0.021 0.1307 0.5065 0.0776 0.0023 0.1034 0.1263 0.1161 0.0311 0.22 0.47 0.11 0.25 . rs61736520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1168 0.5013 0.0822 0.0987 0.0019 0.1018 0.1208 0.1232 0.0302 0.2114 0.4786 0.1169 0.1060 0.0056 0.1013 0.1174 0.1204 het 728.24 47 2 72958333 . T C 728.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.277;DP=47;Dels=0.00;FS=2.671;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-0.101;QD=15.49;ReadPosRankSum=1.044;VQSLOD=5.6170;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,31:47:99:758,0,382 2 73226090 73226090 G A exonic SFXN5 nonsynonymous SNV SFXN5:NM_001330412:exon9:c.C92T:p.P31L,SFXN5:NM_001330411:exon10:c.C92T:p.P31L 0.34 0.43 0.28 0.49 0.22 0.22 0.2649 0.4264 0.2251 0.4873 0.2733 0.2263 0.2489 0.2277 0.29 0.42 0.22 0.3 0.18 rs12233055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2571 0.4257 0.2271 0.2460 0.4807 0.2565 0.2185 0.2477 0.2273 0.2976 0.4295 0.2273 0.2781 0.4913 0.2541 0.2165 0.2669 het 816.64 53 2 73226090 . G A 816.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.402;DP=53;Dels=0.00;FS=1.108;HRun=0;HaplotypeScore=0.8667;MQ=59.56;MQ0=0;MQRankSum=-1.066;QD=15.41;ReadPosRankSum=-0.399;VQSLOD=6.3048;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,34:53:99:847,0,475 2 73339708 73339708 G A exonic RAB11FIP5 synonymous SNV RAB11FIP5:NM_015470:exon1:c.C198T:p.C66C 0.52 0.24 0.67 0.43 0.71 0.69 0.6750 0.3714 0.7477 0.5039 0.6571 0.7137 0.6870 0.6986 0.57 0.33 0.69 0.022 0.57 rs1864488 COSM4133915 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6525 0.2895 0.7283 0.7254 0.4566 0.6130 0.6939 0.6726 0.6750 0.5556 0.2942 0.7322 0.7053 0.4295 0.6121 0.6905 0.6291 het 390.54 32 2 73339708 . G A 390.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.568;DP=32;Dels=0.00;FS=5.979;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;MQRankSum=1.964;QD=12.20;ReadPosRankSum=-1.020;VQSLOD=5.0564;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,17:32:99:421,0,368 2 73478461 73478461 A T exonic CCT7 synonymous SNV CCT7:NM_001009570:exon6:c.A699T:p.A233A,CCT7:NM_001166284:exon9:c.A1050T:p.A350A,CCT7:NM_006429:exon11:c.A1311T:p.A437A,CCT7:NM_001166285:exon12:c.A1179T:p.A393A 0.25 0.12 0.3 0.36 0.31 0.24 0.2789 0.1487 0.2497 0.3227 0.2850 0.3034 0.3089 0.2508 0.26 0.15 0.31 0.25 0.25 rs7851 COSM148877;COSM3758355 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2826 0.1465 0.2637 0.2701 0.3256 0.2857 0.3086 0.2881 0.2529 0.2553 0.1566 0.2746 0.2833 0.3441 0.2789 0.2957 0.2612 hom 7405.40 234 2 73478461 . A T 7405.40 Mask AC=2;AF=1.00;AN=2;DP=234;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9578;MQ=59.54;MQ0=0;QD=31.65;VQSLOD=8.6029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,234:234:99:7405,569,0 2 73493651 73493651 G A exonic FBXO41 synonymous SNV FBXO41:NM_001080410:exon2:c.C1065T:p.S355S 0.0062 . 0.0058 . 0.017 0.01 0.0228 0.0073 0.0113 0 0.0133 0.0344 0.0160 0.0065 0.015 0.0046 0.02 0.011 . rs372629043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0127 0.0034 0.0082 0.0163 0 0.0058 0.0210 0.0145 0.0047 0.0109 0.0040 0.0084 0.0199 0.0006 0.0054 0.0172 0.0102 het 179.06 16 2 73493651 . G A 179.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.646;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.423;QD=11.19;ReadPosRankSum=-0.212;VQSLOD=10.4778;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,7:16:99:209,0,217 2 73651967 73651967 C T exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon5:c.C1174T:p.R392C 0.36 0.88 0.39 0.0089 0.23 0.15 0.2712 0.7789 0.4192 0.0079 0.2280 0.2329 0.2324 0.1680 0.39 0.74 0.24 0.48 0.3 rs3813227 . . Benign not_specified RCV000437899.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.266 0.152 N 1 0.090 P -0.55 0.024 N . . . . . . 0.078 0.219 -1.005 0.284 T 0.000 0.000 T . . . -0.654 0.047 0.092 0.364 0.023 0.002 0.011 N c -1.516 -1.436 0.002 0.087 0.707 0.730 0 0.185 0.143 0.089 0.147 0.154 0.240 0.248 0.246 0.804 0.337 1.773 0.028 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2660 0.7838 0.4080 0.1728 0.0061 0.2317 0.2364 0.2511 0.1607 0.3806 0.7737 0.3804 0.1854 0.0043 0.2388 0.2371 0.2597 het 1152.15 87 2 73651967 . C T 1152.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.689;DP=87;Dels=0.00;FS=3.039;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=-0.753;QD=13.24;ReadPosRankSum=-0.123;VQSLOD=6.4585;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,46:87:99:1182,0,986 2 73675227 73675227 - CTC exonic ALMS1 nonframeshift insertion ALMS1:NM_015120:exon8:c.1570_1571insCTC:p.S524_L525insP 0.6 0.29 0.7 0.78 0.66 0.7 0.6384 0.3574 0.7358 0.7761 0.6299 0.6375 0.6656 0.6714 0.55 0.37 0.64 . . rs587621330 COSM4603453 17(upper_aerodigestive_tract);3(central_nervous_system) Benign Alstrom_syndrome RCV000205185.1 MedGen:OMIM:Orphanet:SNOMED_CT C0268425:203800:ORPHA64:63702009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6450 0.3503 0.7306 0.6308 0.7791 0.6280 0.6356 0.6521 0.6725 0.5638 0.3569 0.7145 0.6141 0.7563 0.6319 0.6340 0.6309 het 3759.32 115 2 73675227 . T TCTC 3759.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.072;DP=115;FS=0.000;HRun=0;HaplotypeScore=367.5478;MQ=55.23;MQ0=0;MQRankSum=-0.768;QD=32.69;ReadPosRankSum=-0.074;set=variant2 GT:AD:DP:GQ:PL 0/1:61,54:115:99:3759,0,2119 2 73675669 73675669 T G exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon8:c.T2012G:p.V671G 0.87 0.91 0.94 0.79 0.88 0.84 0.8627 0.9006 0.9488 0.7828 0.8395 0.8639 0.8589 0.8266 0.88 0.9 0.87 0.91 0.93 rs2037814 COSM5426232 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.543 0.115 N 1 0.090 P -0.55 0.024 N . . . . . . 0.055 0.239 -1.070 0.094 T 0.000 0.000 T . . . -0.301 0.068 0.662 0.379 0.025 0.000 0.002 N c -1.490 -1.457 0.654 0.222 0.563 0.310 0 0.151 0.141 -0.272 0.085 -0.863 0.028 0.002 0.151 0.001 0.043 1.131 0.016 . ENSG00000144034.10|ENSG00000144035.3|ENSG00000163013.7|ENSG00000144035.3 Esophagus_Mucosa|Lung|Nerve_Tibial|Testis 0.8650 0.9003 0.9501 0.8239 0.7840 0.8425 0.8652 0.8643 0.8292 0.8724 0.9048 0.9308 0.8212 0.7662 0.8500 0.8683 0.8676 hom 3810.70 110 2 73675669 . T G 3810.70 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9251;MQ=59.37;MQ0=0;QD=34.64;VQSLOD=8.0904;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3810,304,0 2 73675844 73675844 C T exonic ALMS1 synonymous SNV ALMS1:NM_015120:exon8:c.C2187T:p.F729F 0.53 0.1 0.56 0.78 0.65 0.69 0.5991 0.1856 0.5333 0.7744 0.6109 0.6301 0.6336 0.6670 0.49 0.21 0.62 0.47 0.61 rs7598901 COSM5426233 3(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000419167.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6026 0.1794 0.5448 0.6276 0.7777 0.6100 0.6284 0.6149 0.6685 0.5097 0.1938 0.5540 0.6192 0.7622 0.6105 0.6315 0.6100 het 2163.74 140 2 73675844 . C T 2163.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.092;DP=140;Dels=0.00;FS=6.409;HRun=2;HaplotypeScore=1.6281;MQ=59.04;MQ0=0;MQRankSum=0.377;QD=15.46;ReadPosRankSum=0.653;VQSLOD=5.2609;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,77:140:99:2194,0,1580 2 73677833 73677833 A G exonic ALMS1 synonymous SNV ALMS1:NM_015120:exon8:c.A4176G:p.Q1392Q 0.34 0.79 0.38 0.0089 0.23 0.16 0.2609 0.7064 0.4140 0.0078 0.2287 0.2307 0.2233 0.1588 0.37 0.67 0.24 0.47 0.29 rs6546836 COSM1409404 1(thyroid) Benign not_specified RCV000417950.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2595 0.7134 0.4040 0.1510 0.0060 0.2326 0.2360 0.2457 0.1600 0.3592 0.7015 0.3798 0.1533 0.0044 0.2395 0.2371 0.2520 het 1762.11 129 2 73677833 . A G 1762.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.057;DP=129;Dels=0.00;FS=3.211;HRun=0;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=1.995;QD=13.66;ReadPosRankSum=0.002;VQSLOD=5.4227;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,63:129:99:1792,0,1690 2 73677898 73677898 G C exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon8:c.G4241C:p.G1414A 0.36 0.88 0.39 0.0089 0.23 0.16 0.2681 0.7790 0.42 0.0078 0.2285 0.2320 0.2278 0.1585 0.39 0.74 0.24 0.48 0.29 rs6546837 COSM5001865 1(pancreas) Benign not_specified RCV000424327.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.921 0.075 N 1 0.090 P -1.81 0.003 N . . . . . . 0.022 0.025 -1.004 0.288 T 0.000 0.000 T . . . -1.739 0.012 0.002 0.103 0.001 0.000 0.003 N c -1.617 -1.581 0.982 0.303 0.490 0.173 0 -0.18 0.126 -2.829 0.008 0.038 0.153 0.000 0.063 0.006 0.095 5.890 0.180 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2676 0.7844 0.4133 0.1706 0.0061 0.2326 0.2375 0.2544 0.1625 0.3990 0.7789 0.3926 0.1972 0.0046 0.2580 0.2531 0.2784 het 2515.58 170 2 73677898 . G C 2515.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.400;DP=170;Dels=0.00;FS=6.614;HRun=0;HaplotypeScore=4.2084;MQ=59.04;MQ0=0;MQRankSum=0.197;QD=14.80;ReadPosRankSum=0.551;VQSLOD=4.6796;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,91:170:99:2546,0,2095 2 73679280 73679280 A G exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon8:c.A5623G:p.I1875V 0.36 0.86 0.39 0.0089 0.23 0.16 0.2676 0.7648 0.4179 0.0078 0.2287 0.2334 0.2283 0.1591 0.39 0.73 0.24 0.48 0.31 rs6546838 . . Benign not_specified RCV000434913.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.002 0.063 B 0.078 0.023 N 1 0.090 P -1.1 0.010 N . . . . . . 0.052 0.072 -0.988 0.331 T 0.000 0.000 T . . . -2.737 0.002 0.001 0.672 0.080 0.005 0.023 N c -1.893 -1.858 0.999 0.391 0.707 0.730 0 -3.33 0.046 -0.208 0.093 -2.025 0.005 0.000 0.063 0.000 0.016 5.239 0.147 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2654 0.7708 0.4075 0.1860 0.0060 0.2326 0.2367 0.25 0.1604 0.3775 0.7621 0.3762 0.1767 0.0044 0.2400 0.2380 0.2593 het 749.60 51 2 73679280 . A G 749.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.489;DP=51;Dels=0.00;FS=2.482;HRun=0;HaplotypeScore=0.9159;MQ=58.68;MQ0=0;MQRankSum=-1.032;QD=14.70;ReadPosRankSum=-0.066;VQSLOD=5.7324;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,28:51:99:780,0,607 2 73679866 73679866 T C exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon8:c.T6209C:p.I2070T 0.1 0.079 0.18 0.004 0.16 0.13 0.1432 0.0815 0.1729 0.0054 0.1316 0.1661 0.1403 0.1428 0.14 0.08 0.17 0.098 0.19 rs10496192 . . Benign not_specified RCV000427680.1 MedGen CN169374 . . . . . . . . . 0.019 0.202 B 0.013 0.201 B 0.322 0.143 N 1 0.090 P 0.965 0.241 L . . . . . . 0.086 0.104 -1.004 0.287 T 0.000 0.000 T . . . -1.516 0.016 0.002 0.561 0.054 0.042 0.096 N c -1.261 -1.356 0.982 0.303 0.651 0.465 0 -5.09 0.027 -0.124 0.105 -0.227 0.095 0.486 0.266 0.001 0.043 2.743 0.049 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000114978.13|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000116127.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.1452 0.0791 0.1779 0.1410 0.0042 0.1304 0.1698 0.1498 0.1441 0.1265 0.0822 0.1587 0.1391 0.0025 0.1269 0.1628 0.1367 het 878.52 58 2 73679866 . T C 878.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.492;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=0.343;QD=15.15;ReadPosRankSum=1.793;VQSLOD=5.9548;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:909,0,665 2 73679990 73679990 T A exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon8:c.T6333A:p.S2111R 0.36 0.88 0.39 0.0089 0.23 0.16 0.2699 0.7794 0.4203 0.0078 0.2289 0.2357 0.2309 0.1593 0.4 0.74 0.24 0.48 0.32 rs6724782 COSM4133927 1(thyroid) Benign not_specified RCV000418977.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.921 0.075 N 1 0.090 P -0.285 0.037 N . . . . . . 0.077 0.094 -0.962 0.388 T 0.000 0.000 T . . . -1.275 0.023 0.005 0.660 0.077 0.001 0.009 N c -1.801 -1.801 0.998 0.361 0.651 0.465 0 -5.06 0.027 -0.080 0.112 -0.746 0.035 0.000 0.063 0.000 0.016 0.559 0.006 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2668 0.7839 0.4088 0.2035 0.0060 0.2323 0.2367 0.2520 0.1603 0.3816 0.775 0.3792 0.2086 0.0043 0.2391 0.2376 0.2618 het 283.41 37 2 73679990 . T A 283.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.779;DP=37;Dels=0.00;FS=1.334;HRun=0;HaplotypeScore=0.9983;MQ=60.00;MQ0=0;MQRankSum=-1.384;QD=7.66;ReadPosRankSum=-0.366;VQSLOD=4.4923;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,13:37:99:313,0,641 2 73680508 73680508 G C exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon8:c.G6851C:p.R2284P 0.36 0.88 0.39 0.0089 0.23 0.16 0.2696 0.7791 0.4202 0.0078 0.2283 0.2344 0.2304 0.1592 0.4 0.74 0.24 0.48 0.31 rs6546839 . . Benign not_specified RCV000439494.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.003 0.351 N 1.000 0.205 P -1.935 0.002 N . . . . . . 0.443 0.519 -0.991 0.323 T 0.000 0.000 T . . . 2.150 0.320 17.18 0.701 0.089 0.011 0.040 N c -0.735 -0.414 0.998 0.370 0.732 0.924 0 5.49 0.809 3.132 0.500 0.067 0.174 0.987 0.361 0.998 0.697 12.855 0.571 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2672 0.7842 0.4091 0.2040 0.0060 0.2325 0.2367 0.2525 0.1603 0.3813 0.7753 0.3813 0.2086 0.0044 0.2396 0.2373 0.2612 het 784.55 56 2 73680508 . G C 784.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.688;DP=56;Dels=0.00;FS=2.250;HRun=3;HaplotypeScore=0.9933;MQ=59.59;MQ0=0;MQRankSum=1.635;QD=14.01;ReadPosRankSum=0.518;VQSLOD=6.1196;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,26:56:99:815,0,726 2 73717567 73717567 G T exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon10:c.G8478T:p.R2826S 0.36 0.86 0.39 0.0089 0.23 0.16 0.2663 0.7646 0.4184 0.0078 0.2283 0.2312 0.2243 0.1591 0.39 0.73 0.24 0.48 0.29 rs2056486 COSM4133929 1(thyroid) Benign not_specified RCV000423416.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.152 0.179 N 1 0.090 P -0.975 0.012 N . . . . . . 0.027 0.098 -1.042 0.168 T 0.000 0.000 T . . . -0.450 0.058 0.291 0.694 0.087 0.002 0.010 N c -1.471 -1.364 0.000 0.044 0.707 0.730 0 0.258 0.148 0.023 0.133 0.152 0.238 0.000 0.063 0.296 0.236 6.689 0.222 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2633 0.7700 0.4075 0.1512 0.0060 0.2320 0.2359 0.2481 0.1602 0.3767 0.7621 0.3780 0.1577 0.0043 0.2391 0.2368 0.2592 het 581 42 2 73717567 . G T 581 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.614;DP=42;Dels=0.00;FS=1.218;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=-0.708;QD=13.83;ReadPosRankSum=-0.733;VQSLOD=6.3938;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,23:42:99:611,0,596 2 73717656 73717656 A G exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon10:c.A8567G:p.N2856S 0.36 0.86 0.39 0.0089 0.23 0.16 0.2661 0.7644 0.4183 0.0078 0.2281 0.2310 0.2277 0.1592 0.39 0.72 0.24 0.48 0.3 rs10193972 . . Benign not_specified RCV000430188.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.345 0.033 N . . . . . . 0.004 0.000 -1.092 0.052 T 0.000 0.000 T . . . -1.121 0.028 0.009 0.928 0.218 0.011 0.041 N c -1.431 -1.407 0.000 0.048 0.707 0.730 0 0.225 0.145 -0.502 0.064 -0.494 0.052 0.877 0.307 0.875 0.366 . . . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2634 0.7701 0.4077 0.1508 0.0060 0.2323 0.2360 0.2485 0.1602 0.3766 0.7621 0.3780 0.1556 0.0043 0.2390 0.2366 0.2592 het 1576.63 120 2 73717656 . A G 1576.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.624;DP=120;Dels=0.00;FS=0.753;HRun=0;HaplotypeScore=1.9928;MQ=59.53;MQ0=0;MQRankSum=-1.694;QD=13.14;ReadPosRankSum=0.512;VQSLOD=5.6300;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,58:120:99:1607,0,1718 2 73746923 73746923 C T exonic ALMS1 synonymous SNV ALMS1:NM_015120:exon11:c.C9558T:p.T3186T 0.26 0.57 0.23 0.005 0.21 0.15 0.2169 0.5029 0.2071 0.0055 0.2087 0.2207 0.1882 0.1543 0.3 0.48 0.23 0.35 0.25 rs11884776 . . Benign not_specified RCV000440420.1 MedGen CN169374 Urinary metabolites (H-NMR features) . -0.35 24586186 rs11884776 6E-17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2127 0.5081 0.2147 0.1382 0.0042 0.2134 0.2264 0.2047 0.1559 0.2913 0.5023 0.2098 0.1457 0.0025 0.2167 0.2288 0.2270 het 696.08 69 2 73746923 . C T 696.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.142;DP=69;Dels=0.00;FS=2.021;HRun=0;HaplotypeScore=0.9997;MQ=59.73;MQ0=0;MQRankSum=-1.137;QD=10.09;ReadPosRankSum=-0.954;VQSLOD=5.7868;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,29:69:99:726,0,1024 2 73828538 73828538 G A exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon19:c.G12086A:p.R4029K 0.58 0.25 0.71 0.76 0.66 0.69 0.6334 0.3248 0.7337 0.7539 0.6322 0.6375 0.6641 0.6694 0.54 0.34 0.64 0.51 0.46 rs1052161 COSM4133930 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign not_specified RCV000434771.1 MedGen CN169374 . . . . . . . . . 0.001 0.067 B 0.002 0.063 B 0.659 0.060 N 1 0.090 P -0.345 0.033 N . . . . . . 0.024 0.031 -0.967 0.378 T 0.000 0.000 T . . . -1.681 0.013 0.002 0.278 0.014 0.003 0.018 N c -1.869 -1.884 0.894 0.259 0.706 0.609 0 -6.29 0.018 -1.723 0.020 -0.524 0.049 0.000 0.063 0.007 0.100 12.942 0.576 . ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000116127.13|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Prostate|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.6404 0.3093 0.7273 0.6831 0.7554 0.6273 0.6318 0.6490 0.6708 0.5536 0.3223 0.7148 0.6722 0.7364 0.6319 0.6335 0.6319 het 738.04 58 2 73828538 . G A 738.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.670;DP=58;Dels=0.00;FS=1.840;HRun=1;HaplotypeScore=1.8650;MQ=60.00;MQ0=0;MQRankSum=1.715;QD=12.72;ReadPosRankSum=-0.998;VQSLOD=5.9574;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,27:58:99:768,0,973 2 73829372 73829372 C T exonic ALMS1 synonymous SNV ALMS1:NM_015120:exon20:c.C12172T:p.L4058L 0.34 0.8 0.38 0.0089 0.23 0.15 0.2636 0.7234 0.4125 0.0074 0.2275 0.2300 0.2257 0.1573 0.39 0.7 0.24 0.47 0.27 rs1052162 . . Benign not_specified RCV000444290.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2593 0.7222 0.4028 0.1508 0.0057 0.2314 0.2353 0.2450 0.1589 0.3631 0.7161 0.3753 0.1523 0.0043 0.2382 0.2365 0.2546 het 990.43 77 2 73829372 . C T 990.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.342;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.46;MQ0=0;MQRankSum=0.087;QD=12.86;ReadPosRankSum=-0.077;VQSLOD=7.2702;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,36:77:99:1020,0,1117 2 73868328 73868328 A G exonic NAT8 nonsynonymous SNV NAT8:NM_003960:exon2:c.T428C:p.F143S 0.27 0.62 0.26 0.005 0.21 0.14 0.2186 0.5496 0.2146 0.0053 0.1803 0.2176 0.1854 0.1456 0.33 0.53 0.22 0.36 0.27 rs13538 COSM3927765 2(pancreas);5(prostate) . . . . . Chronic kidney disease . .01 20383146 rs13538 5E-14 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.161 0.177 N 1 0.090 P 0.19 0.091 N 1.95 0.225 T 3.63 0.001 N 0.065 0.051 -1.012 0.264 T 0.000 0.000 T . . . -3.438 0.000 0.001 0.279 0.014 0.010 0.038 N c -2.498 -2.526 1.000 0.747 0.487 0.133 0 -7.73 0.011 -0.087 0.111 -2.391 0.003 0.000 0.063 0.000 0.016 3.591 0.075 Acyl-CoA N-acyltransferase|GNAT domain ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000116127.13|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.2126 0.5544 0.2232 0.1701 0.0041 0.1866 0.2220 0.2035 0.1476 0.2954 0.5459 0.2120 0.1689 0.0025 0.1906 0.2188 0.2111 het 2250.18 169 2 73868328 . A G 2250.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.882;DP=169;Dels=0.00;FS=2.031;HRun=0;HaplotypeScore=2.6141;MQ=57.61;MQ0=0;MQRankSum=-0.032;QD=13.31;ReadPosRankSum=1.063;VQSLOD=4.1076;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,87:169:99:2280,0,2260 2 73927931 73927931 A G exonic NAT8B unknown UNKNOWN 0.77 0.86 0.77 0.71 0.74 0.73 0.7274 0.835 0.7800 0.6915 0.7391 0.7133 0.7384 0.6932 0.75 0.83 0.71 0.81 . rs4852974 COSN8868312;COSN20281658;COSN8868313;COSN19622908 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7264 0.8359 0.7745 0.7209 0.6963 0.7420 0.7080 0.7266 0.6933 0.7585 0.8345 0.7698 0.6954 0.6948 0.7503 0.7238 0.7566 het 1677.96 110 2 73927931 . A G 1677.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.361;DP=110;Dels=0.00;FS=4.868;HRun=1;HaplotypeScore=4.1595;MQ=59.14;MQ0=0;MQRankSum=-0.814;QD=15.25;ReadPosRankSum=0.311;VQSLOD=4.6484;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,57:110:99:1708,0,1490 2 73928098 73928098 C G exonic NAT8B unknown UNKNOWN 0.58 0.36 0.59 0.64 0.67 0.69 0.6147 0.3931 0.5436 0.6452 0.6304 0.6408 0.6333 0.6751 0.56 0.41 0.64 0.64 . rs2001490 COSN8868314;COSN8868315;COSN19624523;COSN20282138 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6164 0.3893 0.5551 0.6708 0.6490 0.6281 0.6371 0.6242 0.6758 0.5688 0.4002 0.5742 0.6523 0.6399 0.6281 0.6386 0.6405 het 2941.96 184 2 73928098 . C G 2941.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.706;DP=184;Dels=0.00;FS=4.336;HRun=0;HaplotypeScore=4.6575;MQ=59.06;MQ0=0;MQRankSum=-1.089;QD=15.99;ReadPosRankSum=-0.750;VQSLOD=3.7764;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,97:184:99:2972,0,2382 2 73928366 73928366 G C exonic NAT8B unknown UNKNOWN 0.55 0.24 0.58 0.64 0.67 0.7 0.6072 0.3008 0.5353 0.6430 0.6302 0.6394 0.6281 0.6834 0.53 0.32 0.64 0.6 . rs2012574 COSN8868317;COSN8868316;COSN20281128;COSN19622909 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6083 0.2940 0.5476 0.6519 0.6487 0.6284 0.6364 0.6184 0.6766 0.5413 0.3070 0.5694 0.6192 0.6392 0.6284 0.6375 0.6358 het 2183.28 210 2 73928366 . G C 2183.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.579;DP=210;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=6.6310;MQ=59.38;MQ0=0;MQRankSum=0.819;QD=10.40;ReadPosRankSum=0.926;VQSLOD=3.9572;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,97:210:99:2213,0,2979 2 73957124 73957124 A G exonic TPRKB synonymous SNV TPRKB:NM_001330389:exon5:c.T474C:p.I158I,TPRKB:NM_001330391:exon5:c.T375C:p.I125I,TPRKB:NM_001330392:exon5:c.T375C:p.I125I,TPRKB:NM_016058:exon5:c.T474C:p.I158I,TPRKB:NM_001330386:exon6:c.T591C:p.I197I,TPRKB:NM_001330387:exon6:c.T591C:p.I197I,TPRKB:NM_001330388:exon6:c.T474C:p.I158I,TPRKB:NM_001330390:exon6:c.T420C:p.I140I 0.57 0.29 0.58 0.7 0.69 0.69 0.6452 0.3738 0.5532 0.7080 0.7082 0.6762 0.6645 0.6853 0.57 0.39 0.66 0.61 0.34 rs7210 COSM3758365 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6288 0.3471 0.5412 0.6460 0.7027 0.6949 0.6524 0.6370 0.6701 0.5834 0.3653 0.5883 0.6126 0.6920 0.6959 0.6655 0.6755 het 582.27 58 2 73957124 . A G 582.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.313;DP=58;Dels=0.00;FS=1.017;HRun=0;HaplotypeScore=0.0000;MQ=57.55;MQ0=0;MQRankSum=0.691;QD=10.04;ReadPosRankSum=-1.445;VQSLOD=4.6062;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,25:58:99:612,0,910 2 74274329 74274329 C T exonic TET3 nonsynonymous SNV TET3:NM_001287491:exon3:c.C1285T:p.P429S 0.024 0.0015 0.049 . 0.075 0.01 0.0428 0.0098 0.0283 0.0001 0.0445 0.0616 0.0612 0.0174 0.042 0.011 0.057 0.011 . rs61741171 COSM5020960 1(soft_tissue) . . . . . . . . . . . 0.0 0.912 D 0.976 0.564 D 0.761 0.547 P . . . 0.998 0.443 D 0.695 0.181 N 1.66 0.275 T -0.71 0.202 N 0.086 0.117 -1.156 0.009 T 0.009 0.031 T . . . 1.051 0.195 10.95 0.984 0.402 0.919 0.543 D c 0.179 0.192 1.000 0.747 0.672 0.522 0 5.84 0.934 2.773 0.471 0.935 0.490 0.635 0.278 0.973 0.468 18.899 0.924 . ENSG00000115274.10 Cells_Transformed_fibroblasts 0.0437 0.0096 0.0336 0.0626 0.0001 0.0506 0.0619 0.0513 0.0176 0.0405 0.0106 0.0513 0.0397 0 0.0458 0.0600 0.0482 het 1764.96 126 2 74274329 . C T 1764.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.559;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6838;MQ=59.47;MQ0=0;MQRankSum=1.765;QD=14.01;ReadPosRankSum=-1.053;VQSLOD=4.3596;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:56,70:126:99:1795,0,1422 2 74466594 74466594 G A exonic SLC4A5 synonymous SNV SLC4A5:NM_021196:exon16:c.C2187T:p.G729G,SLC4A5:NM_133478:exon21:c.C2187T:p.G729G 0.23 0.14 0.23 0.2 0.43 0.17 0.3413 0.1899 0.1712 0.1833 0.5625 0.4292 0.3789 0.1924 0.35 0.2 0.42 0.29 0.34 rs4853018 COSM1409511;COSM1409512 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3431 0.1867 0.1791 0.4348 0.1870 0.5619 0.4252 0.3695 0.1971 0.3658 0.1853 0.2273 0.4305 0.2017 0.5441 0.4482 0.4466 het 1749.13 128 2 74466594 . G A 1749.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.116;DP=128;Dels=0.00;FS=2.325;HRun=0;HaplotypeScore=1.9628;MQ=59.16;MQ0=0;MQRankSum=-0.136;QD=13.67;ReadPosRankSum=4.473;VQSLOD=3.3525;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,67:128:99:1779,0,1549 2 74489318 74489318 G A exonic SLC4A5 nonsynonymous SNV SLC4A5:NM_021196:exon6:c.C757T:p.H253Y,SLC4A5:NM_133478:exon11:c.C757T:p.H253Y 0.051 0.014 0.035 0.11 0.042 0.063 0.0504 0.0149 0.0224 0.1265 0.0337 0.0482 0.0594 0.0673 0.038 0.015 0.05 0.043 0.049 rs55651232 . . . . . . . . . . . . . 0.524 0.096 T 0.003 0.515 B 0.014 0.477 B 0.344 0.139 N 0.868 0.282 P 1.685 0.434 L -0.26 0.672 T -1.95 0.501 N 0.127 0.235 -1.021 0.234 T 0.003 0.009 T . . . 0.430 0.135 6.874 0.988 0.468 0.824 0.414 D c -0.300 -0.206 1.000 0.747 0.615 0.372 0 4.42 0.526 4.696 0.612 0.953 0.551 1.000 0.715 0.219 0.221 12.409 0.546 Band 3 cytoplasmic domain|Phosphotransferase/anion transporter . . 0.0481 0.0149 0.0218 0.0285 0.1230 0.0328 0.0492 0.0480 0.0643 0.0372 0.0169 0.0274 0.0298 0.1163 0.0344 0.0410 0.0511 het 875.85 64 2 74489318 . G A 875.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.473;DP=64;Dels=0.00;FS=2.076;HRun=0;HaplotypeScore=0.7887;MQ=58.09;MQ0=0;MQRankSum=-0.440;QD=13.69;ReadPosRankSum=-2.037;VQSLOD=4.2671;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,36:64:99:906,0,802 2 74725144 74725144 T C exonic LBX2 synonymous SNV LBX2:NM_001009812:exon2:c.A495G:p.E165E,LBX2:NM_001282430:exon2:c.A507G:p.E169E 0.97 0.99 0.96 1. 0.93 0.97 0.9468 0.9875 0.9744 0.9997 0.9370 0.9270 0.9588 0.9572 0.94 0.99 0.92 0.91 0.72 rs6546908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9462 0.9885 0.9671 0.9601 0.9997 0.9379 0.9231 0.9444 0.9572 0.9464 0.9845 0.9666 0.9669 1 0.9313 0.9212 0.9348 het 800.40 76 2 74725144 . T C 800.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.640;DP=76;Dels=0.00;FS=10.028;HRun=2;HaplotypeScore=3.4912;MQ=59.51;MQ0=0;MQRankSum=-1.415;QD=10.53;ReadPosRankSum=-0.533;VQSLOD=3.9229;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,31:76:99:830,0,1196 2 75104329 75104329 G A exonic HK2 synonymous SNV HK2:NM_000189:exon8:c.G912A:p.E304E 0.0014 0.0008 . . 0.006 . 0.0026 0.0012 0.0011 0 0.0015 0.0040 0.0011 0.0005 0.0036 0.0011 0.0049 0.011 . rs28363014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0010 0.0006 0.0001 0 0.0014 0.0040 0.0035 0.0005 0.0025 0.0007 0 0 0 0.0017 0.0041 0.0031 het 3026.47 248 2 75104329 . G A 3026.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.190;DP=248;DS;Dels=0.00;FS=8.097;HRun=1;HaplotypeScore=3.5604;MQ=58.97;MQ0=0;MQRankSum=0.142;QD=12.20;ReadPosRankSum=-2.014;VQSLOD=3.6259;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:132,115:248:99:3056,0,3810 2 75113657 75113657 C T exonic HK2 synonymous SNV HK2:NM_000189:exon15:c.C2076T:p.N692N 0.51 0.75 0.35 0.41 0.47 0.47 0.4512 0.7026 0.3065 0.4155 0.4120 0.4436 0.4306 0.4602 0.52 0.69 0.43 0.61 0.46 rs2229626 COSM4001752 5(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4401 0.7083 0.3158 0.4669 0.4128 0.4162 0.4425 0.4402 0.4578 0.5028 0.6996 0.3341 0.4733 0.4151 0.4106 0.4331 0.4450 het 2231.49 160 2 75113657 . C T 2231.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.728;DP=160;Dels=0.00;FS=1.263;HRun=0;HaplotypeScore=5.4386;MQ=58.86;MQ0=0;MQRankSum=2.037;QD=13.95;ReadPosRankSum=0.773;VQSLOD=4.9396;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,87:160:99:2261,0,1868 2 75113789 75113789 C G exonic HK2 synonymous SNV HK2:NM_000189:exon15:c.C2208G:p.P736P 0.52 0.42 0.49 0.46 0.62 0.63 0.5721 0.4467 0.4195 0.4548 0.6140 0.6101 0.6026 0.6469 0.55 0.45 0.6 0.55 0.56 rs2229627 COSM4415315 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5676 0.4410 0.4311 0.6177 0.4533 0.6121 0.6078 0.5989 0.6439 0.5501 0.4280 0.4499 0.6026 0.4444 0.6248 0.6172 0.5859 het 1380.02 134 2 75113789 . C G 1380.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.654;DP=134;Dels=0.00;FS=6.211;HRun=2;HaplotypeScore=0.7340;MQ=59.83;MQ0=0;MQRankSum=1.331;QD=10.30;ReadPosRankSum=1.029;VQSLOD=4.8002;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,54:134:99:1410,0,1908 2 75115108 75115108 A G exonic HK2 synonymous SNV HK2:NM_000189:exon16:c.A2298G:p.L766L 0.52 0.42 0.47 0.48 0.63 0.64 0.5907 0.4532 0.4062 0.4799 0.6682 0.6342 0.6244 0.6554 0.57 0.46 0.63 0.6 0.6 rs10194657 COSM148879 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5836 0.4465 0.4190 0.6070 0.4754 0.6634 0.6297 0.6154 0.6541 0.5728 0.4390 0.4486 0.5767 0.4602 0.6767 0.6428 0.6125 het 4032.63 217 2 75115108 . A G 4032.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.387;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4360;MQ=58.79;MQ0=0;MQRankSum=-1.641;QD=18.58;ReadPosRankSum=1.486;VQSLOD=2.8145;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,123:217:99:3508,0,2030 2 75720372 75720372 C T exonic EVA1A nonsynonymous SNV EVA1A:NM_001135032:exon4:c.G449A:p.R150H,EVA1A:NM_032181:exon4:c.G449A:p.R150H 0.044 0.076 0.036 0.001 0.055 0.04 0.0459 0.0715 0.0244 0.0006 0.0216 0.0546 0.0513 0.0463 0.055 0.064 0.051 0.011 0.066 rs11126472 COSM4133948 1(thyroid) . . . . . . . . . . . 0.15 0.246 T 1.0 0.899 D 0.999 0.916 D 0.000 0.843 D 1 0.810 D 2.125 0.592 M 0.68 0.520 T -0.56 0.170 N 0.203 0.358 -0.909 0.470 T 0.038 0.164 T . . . 6.384 0.881 29.5 0.999 0.998 0.979 0.776 D c 0.803 0.757 1.000 0.747 0.707 0.730 0 4.79 0.608 6.073 0.707 0.935 0.490 1.000 0.715 0.997 0.653 16.139 0.812 . . . 0.0413 0.0693 0.0232 0.0584 0.0003 0.0237 0.0523 0.0485 0.0372 0.0468 0.0711 0.0227 0.0331 0 0.0186 0.0467 0.0336 het 2122.84 169 2 75720372 . C T 2122.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.195;DP=169;DS;Dels=0.00;FS=1.284;HRun=0;HaplotypeScore=3.8449;MQ=59.09;MQ0=0;MQRankSum=-0.024;QD=12.56;ReadPosRankSum=-0.228;VQSLOD=6.3173;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,80:169:99:2153,0,2137 2 75720569 75720577 GCTGTCGCT - exonic EVA1A nonframeshift deletion EVA1A:NM_001135032:exon4:c.244_252del:p.S82_S84del,EVA1A:NM_032181:exon4:c.244_252del:p.S82_S84del 0.044 0.077 0.036 0.001 0.054 0.04 0.0442 0.0698 0.0241 0.0006 0.0214 0.0529 0.0453 0.0390 0.059 0.071 0.053 . . rs148155576 COSM5713063 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0412 0.0703 0.0231 0.0580 0.0003 0.0233 0.0519 0.0478 0.0370 0.0469 0.0716 0.0239 0.0331 0 0.0186 0.0467 0.0336 het 1492.17 92 2 75720568 . CGCTGTCGCT C 1492.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.738;DP=92;FS=3.406;HRun=0;HaplotypeScore=718.0055;MQ=52.15;MQ0=0;MQRankSum=-5.524;QD=16.22;ReadPosRankSum=-1.064;set=variant2 GT:AD:DP:GQ:PL 0/1:70,22:92:99:1531,0,6544 2 75879359 75879359 G A exonic MRPL19 nonsynonymous SNV MRPL19:NM_014763:exon3:c.G313A:p.V105I 0.007 0.0008 0.011 . 0.015 0.011 0.0064 0.0015 0.0051 0 0.0038 0.0089 0.0067 0.0050 0.0066 0.0008 0.0091 0.011 . rs41382847 . . . . . . . . . . . . . 0.337 0.128 T 0.049 0.208 B 0.139 0.319 B 0.006 0.326 N 0.820 0.347 D 2.215 0.627 M . . . -0.62 0.183 N 0.053 0.035 -0.902 0.478 T 0.160 0.495 T . . . 1.361 0.227 12.58 0.884 0.174 0.878 0.472 D c -0.430 -0.373 0.988 0.315 0.732 0.924 0 -0.463 0.115 2.128 0.414 -0.694 0.038 1.000 0.715 0.925 0.399 10.753 0.452 Translation protein SH3-like domain . . 0.0067 0.0011 0.0069 0.0133 0 0.0042 0.0087 0.0089 0.0049 0.0054 0.0015 0.0060 0.0567 0 0.0023 0.0078 0.0061 het 791.23 74 2 75879359 . G A 791.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.551;DP=74;Dels=0.00;FS=0.934;HRun=4;HaplotypeScore=0.6651;MQ=58.61;MQ0=0;MQRankSum=-0.267;QD=10.69;ReadPosRankSum=-0.998;VQSLOD=5.6640;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,32:74:99:821,0,1180 2 75882399 75882399 G A exonic MRPL19 synonymous SNV MRPL19:NM_014763:exon6:c.G867A:p.S289S 0.18 0.018 0.23 0.16 0.24 0.3 0.2395 0.0445 0.3142 0.1591 0.3160 0.2483 0.2344 0.2797 0.19 0.048 0.26 0.12 0.19 rs17689863 COSM3758376 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2444 0.0432 0.3044 0.2012 0.1584 0.3113 0.2492 0.2386 0.2766 0.2079 0.0494 0.3197 0.2315 0.1625 0.3104 0.2713 0.2645 hom 1496.33 49 2 75882399 . G A 1496.33 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=30.54;VQSLOD=9.3209;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1529,120,0 2 75915035 75915035 C T exonic GCFC2 synonymous SNV GCFC2:NM_001201334:exon11:c.G1101A:p.V367V,GCFC2:NM_003203:exon11:c.G1608A:p.V536V 0.51 0.79 0.46 0.38 0.39 0.43 0.4412 0.7365 0.5207 0.3944 0.4656 0.3944 0.3951 0.4059 0.51 0.73 0.4 0.54 0.28 rs1803196 COSM148880 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4371 0.7404 0.5040 0.3004 0.3999 0.4669 0.3994 0.4061 0.3991 0.5152 0.7333 0.4905 0.3510 0.4084 0.4645 0.4206 0.4499 hom 1698.62 57 2 75915035 . C T 1698.62 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.52;MQ0=0;QD=29.80;VQSLOD=8.2277;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1732,135,0 2 75923413 75923413 T C exonic GCFC2 nonsynonymous SNV GCFC2:NM_001201334:exon5:c.A239G:p.N80S,GCFC2:NM_003203:exon5:c.A746G:p.N249S 0.55 0.8 0.52 0.41 0.47 0.47 0.4987 0.7498 0.5678 0.4297 0.5083 0.4685 0.4723 0.4538 0.56 0.74 0.47 0.61 0.38 rs7560262 COSM148881 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(kidney);1(pancreas);4(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.445 0.126 N 1 0.090 P 0 0.065 N 2.58 0.263 T 0.85 0.017 N 0.017 0.003 -1.000 0.299 T 0.000 0.000 T . . . -2.467 0.004 0.001 0.146 0.003 0.000 0.004 N c -1.579 -1.457 0.005 0.108 0.732 0.924 0 2.75 0.313 0.140 0.158 -0.339 0.072 0.000 0.063 0.000 0.016 8.755 0.336 . ENSG00000115364.9|ENSG00000115364.9|ENSG00000271452.1|ENSG00000005436.9|ENSG00000115364.9|ENSG00000005436.9|ENSG00000005436.9|ENSG00000115364.9|ENSG00000005436.9|ENSG00000115364.9|ENSG00000115364.9|ENSG00000005436.9|ENSG00000115364.9|ENSG00000270696.1|ENSG00000115364.9|ENSG00000271452.1|ENSG00000115364.9|ENSG00000115364.9|ENSG00000271452.1|ENSG00000005436.9|ENSG00000115364.9|ENSG00000005436.9|ENSG00000115364.9|ENSG00000115364.9|ENSG00000005436.9|ENSG00000115364.9|ENSG00000115364.9|ENSG00000271452.1|ENSG00000005436.9|ENSG00000115364.9|ENSG00000115364.9|ENSG00000115364.9|ENSG00000115364.9|ENSG00000115364.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.4962 0.7493 0.5526 0.3921 0.4378 0.5119 0.4717 0.4874 0.4539 0.5649 0.7459 0.5540 0.4139 0.4460 0.5049 0.4940 0.5010 hom 2338.95 75 2 75923413 . T C 2338.95 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=59.02;MQ0=0;QD=31.19;VQSLOD=9.4418;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2372,181,0 2 79254261 79254261 T C exonic REG3G synonymous SNV REG3G:NM_001008387:exon4:c.T297C:p.Y99Y,REG3G:NM_198448:exon4:c.T297C:p.Y99Y 0.86 0.84 0.9 0.91 0.8 0.86 0.8454 0.8413 0.9270 0.9102 0.8930 0.8202 0.8568 0.8388 0.82 0.83 0.81 0.86 0.84 rs452267 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8478 0.8446 0.9096 0.7696 0.9154 0.8887 0.8210 0.8316 0.8391 0.8522 0.8445 0.9010 0.7682 0.9259 0.8974 0.8372 0.8510 hom 5975 175 2 79254261 . T C 5975 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=59.66;MQ0=0;QD=34.14;VQSLOD=9.8563;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5975,466,0 2 80529956 80529956 T C exonic LRRTM1 nonsynonymous SNV LRRTM1:NM_178839:exon2:c.A989G:p.N330S 0.37 0.51 0.32 0.48 0.18 0.28 0.2693 0.4594 0.3964 0.4946 0.2457 0.1883 0.2664 0.2783 0.27 0.45 0.18 0.4 0.17 rs6733871 COSM4133953;COSM4133952 1(thyroid) . . . . . . . . . . . 0.432 0.095 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.000 0.588 P -2.08 0.002 N 1.08 0.394 T -0.22 0.105 N 0.014 0.007 -0.926 0.447 T 0.000 0.000 T . . . -0.321 0.067 0.595 0.763 0.110 0.353 0.250 N c -0.881 -0.601 0.999 0.379 0.652 0.477 0 3.46 0.386 2.205 0.422 -0.339 0.072 1.000 0.715 0.988 0.529 10.573 0.442 Leucine-rich repeat domain\x2c L domain-like . . 0.2653 0.4543 0.3806 0.1564 0.4849 0.2374 0.1847 0.2261 0.2763 0.2921 0.4486 0.3532 0.1556 0.4709 0.2361 0.1974 0.2449 het 882 63 2 80529956 . T C 882 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.640;DP=63;Dels=0.00;FS=8.922;HRun=0;HaplotypeScore=0.8941;MQ=59.27;MQ0=0;MQRankSum=0.846;QD=14.00;ReadPosRankSum=0.076;VQSLOD=4.9417;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,32:63:99:912,0,809 2 84800605 84800605 C A exonic DNAH6 synonymous SNV DNAH6:NM_001370:exon12:c.C1818A:p.A606A 0.93 0.83 0.96 1. 0.95 0.95 0.9465 0.8340 0.9724 0.9979 0.9658 0.9494 0.9537 0.9524 0.91 0.84 0.94 0.89 0.92 rs11891970 . . Benign not_specified RCV000454775.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9489 0.8297 0.9691 0.9848 0.9983 0.9619 0.9469 0.9565 0.9506 0.9249 0.8383 0.9690 0.9768 0.9975 0.9659 0.9525 0.9560 hom 2012.27 65 2 84800605 . C A 2012.27 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4008;MQ=56.29;MQ0=0;QD=30.96;VQSLOD=4.2540;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2045,157,0 2 85549868 85549868 A G exonic TGOLN2 nonsynonymous SNV TGOLN2:NM_001206841:exon4:c.T1322C:p.L441P 0.78 0.81 0.8 0.96 0.6 0.72 0.6764 0.7905 0.8311 0.9643 0.6151 0.5942 0.6964 0.7053 0.66 0.79 0.61 0.81 . rs4240199 . . . . . . . . . . . . . 0.303 0.143 T . . . . . . . . . 1 0.810 P . . . 2.42 0.154 T -0.22 0.105 N . . -1.042 0.165 T 0.000 0.000 T . . . 1.269 0.217 12.11 0.286 0.015 0.002 0.011 N c -1.108 -1.313 1.000 0.480 0.563 0.310 0 -3.58 0.043 -1.826 0.018 -0.451 0.056 0.000 0.063 0.001 0.043 4.181 0.098 . ENSG00000042493.11|ENSG00000042493.11|ENSG00000152291.9|ENSG00000042493.11|ENSG00000152291.9|ENSG00000152291.9|ENSG00000042493.11|ENSG00000152291.9|ENSG00000152291.9|ENSG00000042493.11|ENSG00000152291.9|ENSG00000042493.11|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152292.12|ENSG00000042493.11|ENSG00000246575.2|ENSG00000042493.11|ENSG00000152291.9|ENSG00000042445.9|ENSG00000246575.2 Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6795 0.7918 0.8173 0.6754 0.9695 0.6143 0.5878 0.6740 0.7002 0.6751 0.7840 0.8007 0.6567 0.9685 0.5994 0.5943 0.6237 het 632.46 48 2 85549868 . A G 632.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.169;DP=48;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.3838;MQ=59.52;MQ0=0;MQRankSum=0.776;QD=13.18;ReadPosRankSum=0.859;VQSLOD=4.5648;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:22,26:48:99:662,0,559 2 85553784 85553784 C T exonic TGOLN2 synonymous SNV TGOLN2:NM_001206841:exon2:c.G1071A:p.G357G,TGOLN2:NM_006464:exon2:c.G1071A:p.G357G,TGOLN2:NM_001206844:exon3:c.G897A:p.G299G 0.66 0.55 0.72 0.88 0.53 0.66 0.6046 0.5526 0.7542 0.8845 0.5992 0.5398 0.6392 0.6464 0.55 0.58 0.54 0.67 . rs1044973 COSM5653852;COSM5653851 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6116 0.5532 0.7425 0.6502 0.8872 0.5919 0.5287 0.6239 0.6439 0.5728 0.5497 0.7375 0.6258 0.8892 0.5789 0.5391 0.5922 het 2088.12 195 2 85553784 . C T 2088.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.324;DP=195;Dels=0.00;FS=10.731;HRun=1;HaplotypeScore=5.9455;MQ=59.79;MQ0=0;MQRankSum=-1.069;QD=10.71;ReadPosRankSum=-0.119;VQSLOD=3.7803;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,80:195:99:2118,0,3346 2 85554080 85554080 G A exonic TGOLN2 nonsynonymous SNV TGOLN2:NM_001206841:exon2:c.C775T:p.R259W,TGOLN2:NM_006464:exon2:c.C775T:p.R259W 0.58 0.34 0.68 0.87 0.49 0.63 0.5586 0.3615 0.7295 0.8804 0.5592 0.5009 0.5902 0.6187 0.45 0.36 0.49 0.54 . rs4247303 COSM4999395;COSM1409767 1(pancreas) . . . . . . . . . . . 0.013 0.564 D 0.999 0.764 D 0.844 0.586 P . . . 1 0.090 P 1.245 0.315 L 2.83 0.108 T -2.01 0.478 N 0.085 0.080 -0.807 0.548 T 0.000 0.000 T . . . 3.174 0.441 22.7 0.943 0.241 0.006 0.026 N c -1.257 -1.576 1.000 0.747 0.543 0.218 0 -3.74 0.041 -5.302 0.002 -1.702 0.008 0.000 0.063 0.000 0.016 0.942 0.013 . ENSG00000152291.9|ENSG00000152284.4|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000042445.9|ENSG00000246575.2|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000246575.2|ENSG00000152291.9|ENSG00000042445.9|ENSG00000246575.2 Adipose_Subcutaneous|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5681 0.3575 0.7180 0.6029 0.8827 0.5497 0.4904 0.5710 0.6163 0.4901 0.3631 0.7029 0.5728 0.8885 0.5427 0.4913 0.5481 het 1780.46 137 2 85554080 . G A 1780.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.775;DP=137;Dels=0.00;FS=0.721;HRun=0;HaplotypeScore=1.7825;MQ=59.39;MQ0=0;MQRankSum=-0.096;QD=13.00;ReadPosRankSum=1.202;VQSLOD=6.6407;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,65:137:99:1810,0,1770 2 85622059 85622059 T C exonic CAPG nonsynonymous SNV CAPG:NM_001320734:exon9:c.A911G:p.H304R,CAPG:NM_001256139:exon10:c.A1004G:p.H335R,CAPG:NM_001256140:exon10:c.A959G:p.H320R,CAPG:NM_001320732:exon10:c.A1004G:p.H335R,CAPG:NM_001320733:exon10:c.A1004G:p.H335R,CAPG:NM_001747:exon10:c.A1004G:p.H335R 0.59 0.75 0.4 0.5 0.66 0.51 0.5882 0.7336 0.3346 0.4937 0.6073 0.6342 0.5969 0.5290 0.67 0.73 0.64 0.58 0.7 rs6886 . . . . . . . . . . . . . 0.477 0.109 T 0.0 0.026 B 0.0 0.013 B 0.001 0.416 N 1.000 0.186 P -0.045 0.049 N 0.64 0.529 T 0.75 0.022 N 0.039 0.052 -1.007 0.278 T 0.000 0.000 T . . . 1.450 0.237 13.05 0.916 0.203 0.217 0.213 N c -0.738 -0.507 1.000 0.747 0.706 0.609 0 3.9 0.441 1.209 0.317 0.069 0.176 0.619 0.277 0.995 0.604 8.092 0.298 ADF-H/Gelsolin-like domain|Gelsolin-like domain ENSG00000244399.2|ENSG00000152292.12|ENSG00000168906.8|ENSG00000244399.2|ENSG00000207207.1|ENSG00000152292.12|ENSG00000042493.11|ENSG00000042493.11|ENSG00000042493.11|ENSG00000246575.2|ENSG00000042493.11|ENSG00000152291.9|ENSG00000042493.11|ENSG00000042493.11|ENSG00000042493.11 Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Esophagus_Mucosa|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.5757 0.7305 0.3562 0.5210 0.4849 0.6104 0.6460 0.5658 0.5282 0.6479 0.7341 0.4057 0.5397 0.4653 0.6216 0.6419 0.6076 hom 1404.42 48 2 85622059 . T C 1404.42 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=29.26;VQSLOD=8.9234;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1437,117,0 2 85625222 85625222 T G exonic CAPG synonymous SNV CAPG:NM_001320734:exon7:c.A720C:p.P240P,CAPG:NM_001256139:exon8:c.A813C:p.P271P,CAPG:NM_001256140:exon8:c.A768C:p.P256P,CAPG:NM_001320732:exon8:c.A813C:p.P271P,CAPG:NM_001320733:exon8:c.A813C:p.P271P,CAPG:NM_001747:exon8:c.A813C:p.P271P 0.25 0.42 0.15 0.12 0.23 0.25 0.2239 0.3790 0.0962 0.0956 0.2136 0.2275 0.2070 0.2732 0.29 0.37 0.24 0.25 0.28 rs6885 COSM3758392 1(breast);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2145 0.3771 0.1041 0.1436 0.0908 0.2102 0.2368 0.2011 0.2705 0.2682 0.3776 0.1169 0.1788 0.0797 0.2134 0.2507 0.2251 het 2379.25 207 2 85625222 . T G 2379.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.550;DP=207;DS;Dels=0.00;FS=2.517;HRun=3;HaplotypeScore=1.7791;MQ=59.65;MQ0=0;MQRankSum=-1.053;QD=11.49;ReadPosRankSum=-1.359;VQSLOD=6.0327;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:114,93:207:99:2409,0,3265 2 85769711 85769711 C G exonic MAT2A synonymous SNV MAT2A:NM_005911:exon7:c.C792G:p.R264R 0.49 0.72 0.39 0.39 0.49 0.37 0.4529 0.6829 0.3255 0.3880 0.4555 0.4629 0.4680 0.3889 0.53 0.68 0.46 0.51 0.51 rs1078004 COSM148883 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000418849.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4422 0.6847 0.3282 0.4047 0.3848 0.4547 0.4675 0.4423 0.3891 0.5167 0.6818 0.3807 0.3907 0.4 0.4562 0.4609 0.4632 hom 2100.11 66 2 85769711 . C G 2100.11 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;QD=31.82;VQSLOD=9.2108;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2133,163,0 2 85780131 85780131 G A exonic GGCX synonymous SNV GGCX:NM_001142269:exon8:c.C1047T:p.R349R,GGCX:NM_000821:exon9:c.C1218T:p.R406R 0.29 0.39 0.22 0.31 0.31 0.14 0.2661 0.3645 0.1917 0.3253 0.3094 0.2779 0.2863 0.1589 0.3 0.35 0.28 0.32 0.27 rs2592551 COSM148884 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Vitamin_K-Dependent_Clotting_Factors RCV000261373.1 MedGen CN239236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2612 0.3637 0.1875 0.2329 0.3224 0.3093 0.2802 0.2540 0.1626 0.3033 0.3639 0.2309 0.1987 0.3400 0.3096 0.2723 0.2510 hom 6998.49 218 2 85780131 . G A 6998.49 Mask AC=2;AF=1.00;AN=2;DP=218;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5099;MQ=59.79;MQ0=0;QD=32.10;VQSLOD=8.2684;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,215:218:99:6997,596,0 2 85780536 85780536 C T exonic GGCX nonsynonymous SNV GGCX:NM_001142269:exon7:c.G803A:p.R268Q,GGCX:NM_000821:exon8:c.G974A:p.R325Q 0.38 0.66 0.27 0.31 0.37 0.15 0.3198 0.6253 0.2246 0.3249 0.3304 0.3234 0.3348 0.1734 0.42 0.6 0.33 0.43 0.39 rs699664 COSM3758394 1(haematopoietic_and_lymphoid_tissue);9(soft_tissue);1(large_intestine);1(biliary_tract) Benign Vitamin_K-Dependent_Clotting_Factors RCV000357323.1 MedGen CN239236 . . . . . . 0.552 0.065 T 0.007 0.131 B 0.004 0.093 B 0.938 0.076 N 1 0.090 P -0.145 0.044 N -3.0 0.922 D -0.45 0.148 N 0.123 0.138 -0.957 0.397 T 0.000 0.000 T . . . -0.232 0.073 0.940 0.602 0.063 0.012 0.041 N c -1.438 -1.411 0.999 0.396 0.707 0.730 0 -0.842 0.102 -0.181 0.097 -0.259 0.088 0.000 0.063 0.010 0.111 1.934 0.031 HTTM ENSG00000118640.6|ENSG00000115486.7|ENSG00000115486.7|ENSG00000118640.6 Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.3094 0.6273 0.2241 0.2669 0.3222 0.3280 0.3266 0.3049 0.1770 0.4093 0.6301 0.2816 0.2318 0.3420 0.3303 0.3234 0.3136 hom 3314.63 99 2 85780536 . C T 3314.63 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.4105;MQ=58.58;MQ0=0;QD=33.48;VQSLOD=8.6879;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3314,262,0 2 85781318 85781318 T G exonic GGCX synonymous SNV GGCX:NM_001142269:exon6:c.A666C:p.G222G,GGCX:NM_000821:exon7:c.A837C:p.G279G 1. 1. 1. 1. 0.99 0.99 0.9879 0.9979 0.9982 1 0.9855 0.9817 0.9857 0.9942 0.99 1. 0.98 0.98 0.99 rs1254896 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9887 0.9982 0.9968 0.9732 1 0.9852 0.9839 0.9889 0.9942 0.9899 0.9971 1 0.9868 1 0.9854 0.9856 0.9827 hom 7443.15 226 2 85781318 . T G 7443.15 Mask AC=2;AF=1.00;AN=2;DP=226;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=32.93;VQSLOD=8.6853;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:7443,569,0 2 85806266 85806266 C T exonic VAMP8 synonymous SNV VAMP8:NM_003761:exon2:c.C138T:p.N46N 0.28 0.4 0.22 0.31 0.3 0.14 0.2990 0.3943 0.2221 0.3518 0.3537 0.3073 0.3152 0.1930 0.3 0.35 0.27 0.32 0.23 rs3731828 COSM148885 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2551 0.3613 0.1823 0.2345 0.3189 0.3038 0.2733 0.2505 0.1564 0.3044 0.3693 0.2267 0.1987 0.3418 0.3089 0.2717 0.2510 hom 543.04 19 2 85806266 . C T 543.04 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.58;VQSLOD=13.6814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:45.14:576,45,0 2 85808737 85808737 A G exonic VAMP8 synonymous SNV VAMP8:NM_003761:exon3:c.A201G:p.R67R 0.44 0.6 0.35 0.39 0.43 0.35 0.4126 0.5612 0.2962 0.3915 0.4351 0.4200 0.4240 0.3720 0.46 0.55 0.41 0.43 0.4 rs1009 COSM148886 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4041 0.5610 0.2959 0.3734 0.3856 0.4359 0.4231 0.3991 0.3733 0.4528 0.5603 0.3373 0.3624 0.4016 0.4356 0.4109 0.4080 hom 8406.07 250 2 85808737 . A G 8406.07 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6297;MQ=59.29;MQ0=0;QD=33.62;VQSLOD=9.3179;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8405,656,0 2 85818886 85818886 C T exonic VAMP5 synonymous SNV VAMP5:NM_006634:exon2:c.C42T:p.N14N 0.19 0.15 0.2 0.088 0.28 0.26 0.2337 0.1531 0.1276 0.0607 0.2462 0.2806 0.2351 0.2550 0.24 0.16 0.28 0.15 0.22 rs14976 COSM4419692 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2306 0.1573 0.1312 0.2167 0.0595 0.2437 0.2894 0.2371 0.2515 0.2178 0.1514 0.1647 0.2252 0.0494 0.2440 0.2704 0.2342 het 2280.77 174 2 85818886 . C T 2280.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.159;DP=174;Dels=0.00;FS=1.268;HRun=0;HaplotypeScore=3.7092;MQ=59.87;MQ0=0;MQRankSum=-0.249;QD=13.11;ReadPosRankSum=0.790;VQSLOD=6.0007;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,93:174:99:2311,0,2118 2 85824039 85824039 G A exonic RNF181 synonymous SNV RNF181:NM_016494:exon3:c.G312A:p.L104L 0.056 0.0061 0.1 0.001 0.15 0.046 0.1077 0.0232 0.0859 0.0003 0.1411 0.1488 0.1134 0.0527 0.11 0.027 0.15 0.065 0.15 rs1127974 COSM5619032 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1095 0.0246 0.0862 0.1148 0.0005 0.1412 0.1530 0.1167 0.0543 0.1011 0.0286 0.1029 0.1291 0.0012 0.1357 0.1452 0.1031 het 1743.10 142 2 85824039 . G A 1743.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.013;DP=142;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5026;MQ=59.68;MQ0=0;MQRankSum=0.266;QD=12.28;ReadPosRankSum=0.513;VQSLOD=5.0701;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,73:142:99:1773,0,2056 2 85826721 85826721 G A exonic TMEM150A synonymous SNV TMEM150A:NM_001031738:exon7:c.C501T:p.T167T 0.18 0.14 0.18 0.082 0.25 0.24 0.2121 0.1437 0.1164 0.0550 0.2146 0.2532 0.2098 0.2383 0.22 0.15 0.25 0.16 0.2 rs11891495 COSM3758395 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2091 0.1458 0.1180 0.2069 0.0535 0.2110 0.2612 0.2148 0.2365 0.1940 0.1409 0.1459 0.2219 0.0444 0.2073 0.2396 0.2016 het 1597.87 110 2 85826721 . G A 1597.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.991;DP=110;Dels=0.00;FS=2.709;HRun=0;HaplotypeScore=4.2945;MQ=59.24;MQ0=0;MQRankSum=-0.458;QD=14.53;ReadPosRankSum=2.182;VQSLOD=4.9705;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,58:110:99:1628,0,1322 2 85843431 85843431 C T exonic USP39 nonsynonymous SNV USP39:NM_001256725:exon1:c.C113T:p.P38L,USP39:NM_001256726:exon1:c.C113T:p.P38L,USP39:NM_006590:exon1:c.C113T:p.P38L 0.026 0.0045 0.037 . 0.058 0.042 0.0765 0.0183 0.0389 0.0002 0.1343 0.0992 0.0833 0.0595 0.04 0.008 0.056 0.043 0.016 rs114838872 COSM3758397 2(large_intestine) . . . . . . . . . . . 0.128 0.330 T 0.005 0.119 B 0.025 0.193 B 0.261 0.153 N 1 0.194 N 0.345 0.112 N 2.3 0.171 T -1.52 0.370 N 0.056 0.048 -1.008 0.276 T 0.004 0.012 T . . . 3.480 0.476 23.1 0.960 0.279 0.315 0.241 N c -0.749 -0.713 1.000 0.747 0.442 0.072 0 3.25 0.362 0.420 0.208 0.859 0.375 0.001 0.137 0.532 0.276 6.98 0.237 . ENSG00000115486.7 Skin_Sun_Exposed_Lower_leg 0.0503 0.0092 0.0259 0.0807 0.0003 0.0696 0.0675 0.0553 0.0390 0.0509 0.0113 0.0382 0.0795 0.0006 0.0702 0.0745 0.0585 het 149.11 19 2 85843431 . C T 149.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.445;DP=19;Dels=0.00;FS=4.359;HRun=1;HaplotypeScore=1.8100;MQ=59.01;MQ0=0;MQRankSum=0.950;QD=7.85;ReadPosRankSum=-1.940;VQSLOD=4.1574;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,8:19:99:179,0,324 2 85893741 85893741 G A exonic SFTPB nonsynonymous SNV SFTPB:NM_000542:exon5:c.C428T:p.T143I,SFTPB:NM_198843:exon5:c.C428T:p.T143I 0.52 0.8 0.42 0.26 0.54 0.46 0.5037 0.7482 0.3944 0.2647 0.5314 0.5257 0.5177 0.4505 0.6 0.74 0.52 0.55 0.54 rs1130866 COSM4133962;COSM4133963 1(thyroid) Benign|Benign not_specified|Pulmonary_Surfactant_Metabolism_Dysfunction\x2c_Recessive RCV000151850.2|RCV000263751.1 MedGen|MedGen CN169374|CN239432 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.149 0.180 N 0.151 0.352 P -2.555 0.000 N -0.69 0.727 T 2.66 0.002 N 0.038 0.310 -0.949 0.411 T 0.000 0.000 T . . . -1.006 0.032 0.015 0.105 0.001 0.002 0.012 N c -1.119 -0.882 0.993 0.329 0.554 0.283 0 3.33 0.371 1.977 0.400 0.075 0.182 0.723 0.286 0.848 0.354 6.990 0.238 Saposin B type domain|Saposin B type\x2c region 2|Saposin-like ENSG00000239305.2 Esophagus_Mucosa 0.4954 0.7543 0.4051 0.5224 0.2651 0.5277 0.5259 0.5044 0.4503 0.5744 0.7472 0.4036 0.5828 0.2559 0.5312 0.5329 0.5 hom 3920.09 116 2 85893741 . G A 3920.09 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=33.79;VQSLOD=9.8225;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3920,313,0 2 85924729 85924729 C T exonic GNLY nonsynonymous SNV GNLY:NM_006433:exon4:c.C356T:p.T119I,GNLY:NM_001302758:exon5:c.C437T:p.T146I,GNLY:NM_012483:exon5:c.C311T:p.T104I 0.34 0.063 0.4 0.59 0.4 0.36 0.3822 0.1057 0.4153 0.5812 0.3705 0.3982 0.3800 0.3692 0.29 0.11 0.38 0.29 0.32 rs11127 COSM5428112;COSM3758398 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.24 0.222 T 0.021 0.181 B 0.014 0.190 B 0.413 0.130 U 1 0.090 P 1.15 0.294 L -0.13 0.648 T -1.47 0.360 N 0.113 0.261 -0.915 0.462 T 0.000 0.000 T . . . 0.255 0.118 5.246 0.809 0.130 0.019 0.057 N c -1.303 -1.366 1.000 0.473 0.554 0.246 0 0.274 0.148 0.582 0.234 -0.187 0.104 0.001 0.137 0.002 0.062 3.451 0.070 Saposin B type domain|Saposin B type\x2c region 2|Saposin-like;Saposin B type domain|Saposin-like ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000203363.2|ENSG00000168874.8|ENSG00000115523.12 Adipose_Subcutaneous|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Heart_Left_Ventricle|Lung|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3874 0.1016 0.4123 0.4591 0.5796 0.3759 0.3905 0.3986 0.3672 0.3172 0.1111 0.3962 0.4371 0.5928 0.3610 0.3872 0.3663 hom 2009.93 69 2 85924729 . C T 2009.93 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=59.67;MQ0=0;QD=29.13;VQSLOD=8.6738;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2043,165,0 2 86088333 86088333 T C exonic ST3GAL5 nonsynonymous SNV ST3GAL5:NM_001042437:exon3:c.A220G:p.M74V,ST3GAL5:NM_003896:exon3:c.A289G:p.M97V . . . . . . 8.246e-06 0 0 0 0.0002 0 0 0 . . . . . rs774010852 . . . . . . . . . . . . . 0.232 0.232 T 0.023 0.176 B 0.006 0.112 B 0.514 0.052 N 1 0.090 N 0.755 0.192 N 1.68 0.376 T -0.33 0.148 N 0.02 0.203 -0.976 0.360 T 0.052 0.222 T 0.004 0.090 T -2.368 0.004 0.001 0.682 0.083 0.052 0.109 N c -1.403 -1.455 1.000 0.747 0.520 0.209 0 -10.2 0.003 -0.322 0.080 0.080 0.190 0.000 0.063 0.993 0.574 10.818 0.456 . . . 4.067e-06 0 0 0 0 4.5e-05 0 0 0 . . . . . . . . het 1726.38 128 2 86088333 . T C 1726.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.570;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9943;MQ=59.67;MQ0=0;MQRankSum=-1.411;QD=13.49;ReadPosRankSum=0.362;VQSLOD=4.0850;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,65:128:99:1756,0,1614 2 86259443 86259443 C T exonic POLR1A synonymous SNV POLR1A:NM_015425:exon29:c.G4224A:p.G1408G 0.58 0.83 0.47 0.36 0.59 0.52 0.5874 0.8111 0.3995 0.3593 0.5804 0.6264 0.5767 0.5506 0.7 0.81 0.64 0.64 0.65 rs2276626 COSM148889 2(haematopoietic_and_lymphoid_tissue);1(stomach);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5787 0.8156 0.4167 0.6087 0.3616 0.5811 0.6330 0.5756 0.5518 0.6642 0.8099 0.4725 0.58 0.3865 0.5774 0.6450 0.6196 hom 7571 250 2 86259443 . C T 7571 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7235;MQ=59.09;MQ0=0;QD=30.28;VQSLOD=6.2097;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7570,602,0 2 86315741 86315741 C T exonic POLR1A synonymous SNV POLR1A:NM_015425:exon6:c.G678A:p.T226T 0.66 0.31 0.82 0.66 0.84 0.82 0.7948 0.3716 0.8670 0.6568 0.8599 0.8491 0.8111 0.8212 0.71 0.42 0.85 0.56 0.84 rs2288120 COSM4133965 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8017 0.3687 0.8519 0.8776 0.6557 0.8536 0.8455 0.8218 0.8193 0.7042 0.3729 0.8305 0.8709 0.6498 0.8483 0.8505 0.8289 hom 5673.44 191 2 86315741 . C T 5673.44 Mask AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8857;MQ=58.86;MQ0=0;QD=29.70;VQSLOD=7.5590;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:5672,442,0 2 86317012 86317012 C G exonic POLR1A nonsynonymous SNV POLR1A:NM_015425:exon4:c.G473C:p.R158P 0.0048 . 0.017 . 0.012 . 0.0069 0.0020 0.0048 0 0.0153 0.0097 0.0078 0.0002 0.0068 0.0019 0.009 0.011 0.0082 rs146078741 . . . . . . . . . . . . . 0.101 0.303 T 0.802 0.431 P 0.579 0.483 P 0.048 0.233 N 0.932 0.270 N 1.385 0.346 L 1.95 0.225 T -1.28 0.381 N 0.06 0.329 -1.100 0.041 T 0.022 0.094 T . . . 2.062 0.309 16.61 0.533 0.048 0.697 0.340 D c -0.333 -0.269 0.934 0.271 0.707 0.730 0 4.04 0.461 2.179 0.419 0.149 0.237 1.000 0.715 0.935 0.408 7.185 0.248 RNA polymerase Rpb1\x2c domain 1 . . 0.0070 0.0013 0.0050 0.0246 0 0.0126 0.0086 0.0075 0.0004 0.0057 0.0010 0.0024 0.0331 0 0.0106 0.0071 0.0112 het 793.60 76 2 86317012 . C G 793.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.014;DP=76;Dels=0.00;FS=4.208;HRun=1;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;MQRankSum=-0.175;QD=10.44;ReadPosRankSum=-0.165;VQSLOD=4.3866;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,30:76:99:824,0,1206 2 86317037 86317037 G C exonic POLR1A nonsynonymous SNV POLR1A:NM_015425:exon4:c.C448G:p.P150A 0.76 0.51 0.85 0.75 0.87 0.9 0.8496 0.5567 0.8871 0.7533 0.9110 0.8834 0.8678 0.8852 0.79 0.59 0.88 0.69 0.84 rs4832242 . . . . . . . . . . . . . 1.0 0.010 T 0.009 0.139 B 0.01 0.139 B 0.052 0.229 N 1 0.090 P 0.385 0.122 N 2.1 0.200 T 0.14 0.054 N 0.026 0.017 -0.994 0.316 T 0.000 0.000 T . . . -2.506 0.003 0.001 0.211 0.008 0.017 0.053 N c -1.768 -1.795 0.990 0.320 0.707 0.730 0 -5.44 0.024 -1.207 0.031 -0.366 0.067 0.001 0.137 0.843 0.352 11.261 0.481 RNA polymerase Rpb1\x2c domain 1 ENSG00000068654.11|ENSG00000132313.10|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132313.10|ENSG00000132313.10|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132305.16|ENSG00000132313.10|ENSG00000068615.12|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132313.10|ENSG00000132313.10|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132313.10|ENSG00000132305.16|ENSG00000068654.11|ENSG00000132313.10|ENSG00000132313.10|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132313.10|ENSG00000068654.11|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132305.16|ENSG00000132313.10|ENSG00000068654.11|ENSG00000068654.11|ENSG00000068654.11|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132313.10|ENSG00000273080.1|ENSG00000068654.11|ENSG00000068654.11|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132305.16|ENSG00000132313.10|ENSG00000068654.11|ENSG00000132313.10|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000132313.10|ENSG00000068654.11|ENSG00000273080.1|ENSG00000132313.10|ENSG00000068615.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood 0.8521 0.5506 0.8722 0.8981 0.7470 0.9087 0.8797 0.8672 0.8805 0.7858 0.5518 0.8675 0.8940 0.7299 0.9043 0.8871 0.8788 hom 1848.39 53 2 86317037 . G C 1848.39 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5352;MQ=58.60;MQ0=0;QD=34.88;VQSLOD=7.2158;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1881,147,0 2 86371883 86371883 T C exonic IMMT synonymous SNV IMMT:NM_001100169:exon15:c.A1782G:p.A594A,IMMT:NM_001100170:exon15:c.A1752G:p.A584A,IMMT:NM_006839:exon15:c.A1785G:p.A595A 0.26 0.058 0.37 0.15 0.48 0.35 0.4162 0.1058 0.3960 0.1408 0.4965 0.5034 0.4321 0.3733 0.38 0.11 0.5 0.24 . rs8244 COSM3758399 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4206 0.1016 0.3977 0.4727 0.1368 0.5021 0.5060 0.4423 0.3738 0.3801 0.1124 0.4053 0.46 0.1378 0.4863 0.5267 0.4949 hom 2785.49 90 2 86371883 . T C 2785.49 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=59.33;MQ0=0;QD=30.95;VQSLOD=8.5591;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2818,238,0 2 86433240 86433240 C T exonic MRPL35 nonsynonymous SNV MRPL35:NM_016622:exon2:c.C55T:p.P19S,MRPL35:NM_145644:exon2:c.C55T:p.P19S 0.24 0.055 0.28 0.12 0.48 0.37 0.4000 0.1020 0.2678 0.1177 0.4926 0.5011 0.4150 0.3801 0.37 0.11 0.51 0.22 0.48 rs10901 COSM148890 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.103 0.310 T 0.192 0.278 B 0.033 0.210 B 0.000 0.843 N 0.038 0.383 P 1.67 0.430 L 2.24 0.181 T -2.13 0.500 N 0.233 0.285 -0.941 0.424 T 0.000 0.000 T . . . 2.990 0.420 22.2 0.998 0.866 0.550 0.295 D c -0.110 -0.026 1.000 0.747 0.732 0.924 0 4.74 0.596 2.478 0.446 0.929 0.438 0.318 0.253 0.937 0.410 10.645 0.446 . ENSG00000132305.16|ENSG00000273080.1|ENSG00000273080.1|ENSG00000132313.10|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000273080.1|ENSG00000273080.1|ENSG00000273080.1|ENSG00000068615.12|ENSG00000273080.1|ENSG00000273080.1|ENSG00000273080.1|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16|ENSG00000132305.16|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000068654.11|ENSG00000132313.10|ENSG00000132305.16|ENSG00000273080.1|ENSG00000068615.12|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16|ENSG00000273080.1|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4000 0.0979 0.2759 0.4791 0.1131 0.4952 0.5033 0.4212 0.3740 0.3717 0.1088 0.3146 0.4667 0.1247 0.4799 0.5207 0.4805 hom 5227.57 180 2 86433240 . C T 5227.57 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8737;MQ=56.80;MQ0=0;QD=29.04;VQSLOD=5.2587;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:180:99:5227,421,0 2 86481835 86481835 C T exonic REEP1 synonymous SNV REEP1:NM_001164731:exon3:c.G204A:p.T68T,REEP1:NM_001164730:exon4:c.G306A:p.T102T,REEP1:NM_022912:exon4:c.G285A:p.T95T 0.43 0.18 0.6 0.6 0.46 0.43 0.4673 0.2245 0.6426 0.6133 0.5141 0.4551 0.4615 0.4518 0.37 0.23 0.44 0.4 0.4 rs2276625 COSM4785230;COSM3758400;COSM5765761 2(large_intestine) other|Benign not_specified|Spastic_Paraplegia\x2c_Dominant RCV000118136.4|RCV000386509.1 MedGen|MedGen CN169374|CN239430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4755 0.2189 0.6200 0.4539 0.6093 0.4969 0.4502 0.4745 0.4542 0.4005 0.2165 0.5788 0.4669 0.5841 0.5017 0.4482 0.4724 het 1058.13 122 2 86481835 . C T 1058.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DP=122;Dels=0.00;FS=2.493;HRun=0;HaplotypeScore=3.3563;MQ=59.69;MQ0=0;MQRankSum=-0.425;QD=8.67;ReadPosRankSum=-0.452;VQSLOD=5.6905;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,43:122:99:1088,0,1911 2 86683642 86683642 A G exonic KDM3A nonsynonymous SNV KDM3A:NM_001146688:exon6:c.A634G:p.I212V,KDM3A:NM_018433:exon6:c.A634G:p.I212V 0.8 0.93 0.76 0.94 0.76 0.57 0.7664 0.9039 0.7864 0.9563 0.7905 0.7613 0.7704 0.5773 0.8 0.9 0.75 0.78 0.69 rs2030259 . . . . . . . . . . . . . 0.862 0.027 T 0.0 0.026 B 0.0 0.013 B 0.012 0.292 N 1 0.090 P -0.975 0.012 N 0.48 0.560 T 0.31 0.040 N 0.009 0.030 -0.975 0.362 T 0.000 0.000 T . . . 0.069 0.100 3.279 0.798 0.125 0.066 0.125 N c -0.929 -0.633 0.251 0.187 0.732 0.924 0 3.51 0.391 2.187 0.420 0.076 0.183 1.000 0.715 0.995 0.604 7.664 0.274 . . . 0.7638 0.9058 0.7747 0.7273 0.9564 0.7889 0.7601 0.7599 0.5799 0.8229 0.9046 0.7762 0.7417 0.9515 0.8035 0.7741 0.7594 het 1024.88 87 2 86683642 . A G 1024.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.276;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=59.57;MQ0=0;MQRankSum=-1.951;QD=11.78;ReadPosRankSum=0.140;VQSLOD=5.6577;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,41:87:99:1055,0,1092 2 86691250 86691250 G A exonic KDM3A synonymous SNV KDM3A:NM_001146688:exon9:c.G918A:p.A306A,KDM3A:NM_018433:exon9:c.G918A:p.A306A 0.8 0.93 0.76 0.94 0.76 0.57 0.7663 0.9040 0.7856 0.9563 0.7915 0.7611 0.7709 0.5769 0.8 0.9 0.75 0.78 0.75 rs12714187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7642 0.9060 0.7751 0.7275 0.9567 0.7891 0.7604 0.7599 0.5819 0.8223 0.9043 0.7721 0.7417 0.9523 0.8016 0.7737 0.7643 het 1385.30 122 2 86691250 . G A 1385.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.094;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3866;MQ=59.03;MQ0=0;MQRankSum=0.732;QD=11.35;ReadPosRankSum=-0.855;VQSLOD=5.0254;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,56:122:99:1415,0,1691 2 86693826 86693826 T C exonic KDM3A nonsynonymous SNV KDM3A:NM_001146688:exon10:c.T1339C:p.S447P,KDM3A:NM_018433:exon10:c.T1339C:p.S447P 0.073 0.12 0.068 . 0.14 0.022 0.1139 0.1316 0.0658 0.0003 0.0850 0.1569 0.0938 0.0349 0.15 0.13 0.16 0.14 0.16 rs34605051 COSM3758401;COSM3758402 1(large_intestine) . . . . . . . . . . . 0.008 0.586 D 0.001 0.067 B 0.0 0.013 B 0.001 0.415 N 1 0.090 P 1.04 0.263 L 0.2 0.601 T -1.45 0.356 N 0.047 0.189 -1.104 0.037 T 0.001 0.002 T . . . 1.600 0.254 13.85 0.978 0.357 0.378 0.256 N c -0.761 -0.730 0.753 0.234 0.707 0.730 0 1.78 0.238 1.627 0.364 1.061 0.807 0.514 0.268 0.324 0.241 5.551 0.163 . . . 0.1130 0.1354 0.0698 0.1748 0.0002 0.0925 0.1589 0.1322 0.0375 0.1367 0.1393 0.0776 0.14 0 0.0930 0.1644 0.1176 het 2634.18 231 2 86693826 . T C 2634.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.554;DP=231;Dels=0.00;FS=8.745;HRun=1;HaplotypeScore=4.8579;MQ=59.05;MQ0=0;MQRankSum=0.135;QD=11.40;ReadPosRankSum=1.202;VQSLOD=4.6100;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:135,96:231:99:2664,0,3280 2 86756381 86756381 T G exonic CHMP3;RNF103-CHMP3 synonymous SNV CHMP3:NM_001005753:exon2:c.A48C:p.A16A,CHMP3:NM_016079:exon3:c.A246C:p.A82A,RNF103-CHMP3:NM_001198954:exon5:c.A333C:p.A111A 0.14 0.37 0.088 . 0.14 0.022 0.1354 0.3519 0.0774 0.0003 0.0853 0.1587 0.1038 0.0372 0.22 0.34 0.16 0.23 0.16 rs11548929 COSM3758403 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1297 0.3552 0.0822 0.1788 0.0002 0.0923 0.1604 0.1434 0.0393 0.1982 0.3542 0.0873 0.1391 0.0006 0.0928 0.1657 0.1268 het 1923.72 159 2 86756381 . T G 1923.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.924;DP=159;Dels=0.00;FS=2.841;HRun=1;HaplotypeScore=1.9142;MQ=59.77;MQ0=0;MQRankSum=-1.034;QD=12.10;ReadPosRankSum=-1.045;VQSLOD=5.3384;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,74:159:99:1954,0,2233 2 86979093 86979093 G A exonic RMND5A synonymous SNV RMND5A:NM_022780:exon3:c.G360A:p.E120E 0.69 0.61 0.7 0.91 0.66 0.59 0.6660 0.6449 0.7291 0.9154 0.6935 0.6454 0.6597 0.5769 0.65 0.66 0.65 0.61 0.66 rs10186663 COSM5021306 1(breast);1(bone);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6700 0.6401 0.7245 0.6199 0.9158 0.6846 0.6478 0.6527 0.5773 0.6679 0.6479 0.7184 0.5960 0.8953 0.6920 0.6493 0.6475 hom 2118.48 66 2 86979093 . G A 2118.48 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.65;MQ0=0;QD=32.10;VQSLOD=9.5510;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:66:99:2151,166,0 2 87017575 87017575 C T exonic CD8A synonymous SNV CD8A:NM_001768:exon2:c.G279A:p.R93R,CD8A:NM_171827:exon2:c.G279A:p.R93R,CD8A:NM_001145873:exon5:c.G279A:p.R93R 0.036 0.07 0.029 . 0.063 0.0082 0.0597 0.0787 0.0293 0.0002 0.0558 0.0806 0.0543 0.0184 0.077 0.079 0.076 0.054 0.049 rs2229240 COSM4133968;COSM4909392 1(thyroid) Benign not_specified RCV000454381.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0572 0.0802 0.0345 0.0577 0.0001 0.0573 0.0803 0.0566 0.0188 0.0717 0.0827 0.0383 0.0364 0 0.0593 0.0787 0.0682 het 1546.43 117 2 87017575 . C T 1546.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.520;DP=117;Dels=0.00;FS=0.703;HRun=0;HaplotypeScore=4.3923;MQ=58.89;MQ0=0;MQRankSum=-0.060;QD=13.22;ReadPosRankSum=0.615;VQSLOD=5.6439;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,57:117:99:1576,0,1647 2 87017662 87017662 G T exonic CD8A synonymous SNV CD8A:NM_001768:exon2:c.C192A:p.A64A,CD8A:NM_171827:exon2:c.C192A:p.A64A,CD8A:NM_001145873:exon5:c.C192A:p.A64A 0.036 0.07 0.029 . 0.063 0.0082 0.0603 0.0831 0.0294 0.0002 0.0560 0.0819 0.0549 0.0184 0.076 0.079 0.075 0.033 0.025 rs2229239 COSM4909275;COSM4133969 2(thyroid) Benign not_specified RCV000455052.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0572 0.0813 0.0345 0.0578 0.0001 0.0574 0.0809 0.0563 0.0188 0.0717 0.0829 0.0394 0.0364 0 0.0596 0.0785 0.0686 het 1262.73 75 2 87017662 . G T 1262.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.950;DP=75;Dels=0.00;FS=4.851;HRun=0;HaplotypeScore=1.9106;MQ=59.38;MQ0=0;MQRankSum=-0.657;QD=16.84;ReadPosRankSum=1.567;VQSLOD=4.5178;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,43:75:99:1293,0,807 2 88396120 88396120 G A exonic SMYD1 synonymous SNV SMYD1:NM_001330364:exon5:c.G666A:p.E222E,SMYD1:NM_198274:exon6:c.G705A:p.E235E 0.31 0.42 0.26 0.16 0.36 0.32 0.3364 0.4147 0.2919 0.1442 0.3238 0.3589 0.3307 0.3344 0.38 0.41 0.36 0.46 0.19 rs2919882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3269 0.4168 0.2892 0.2980 0.1499 0.3321 0.3593 0.3602 0.3046 0.3531 0.4111 0.2983 0.3087 0.1508 0.3258 0.3515 0.3551 het 2850.12 250 2 88396120 . G A 2850.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.952;DP=250;DS;Dels=0.00;FS=4.385;HRun=1;HaplotypeScore=5.9542;MQ=59.28;MQ0=0;MQRankSum=-0.232;QD=11.40;ReadPosRankSum=-0.181;VQSLOD=4.6031;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:140,110:250:99:2880,0,3865 2 88396123 88396123 C G exonic SMYD1 synonymous SNV SMYD1:NM_001330364:exon5:c.C669G:p.L223L,SMYD1:NM_198274:exon6:c.C708G:p.L236L 0.31 0.42 0.26 0.16 0.36 0.32 0.3358 0.4146 0.2918 0.1441 0.3242 0.3585 0.3296 0.3308 0.38 0.41 0.36 0.46 0.19 rs2970912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3270 0.4168 0.2894 0.2983 0.1500 0.3321 0.3595 0.3605 0.3044 0.3532 0.4114 0.2983 0.3087 0.1506 0.3258 0.3516 0.3558 het 3027.80 248 2 88396123 . C G 3027.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.505;DP=248;DS;Dels=0.00;FS=2.891;HRun=0;HaplotypeScore=4.9626;MQ=59.27;MQ0=0;MQRankSum=-1.547;QD=12.21;ReadPosRankSum=0.247;VQSLOD=4.3867;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:139,109:248:99:3058,0,3755 2 88396174 88396174 T C exonic SMYD1 synonymous SNV SMYD1:NM_001330364:exon5:c.T720C:p.I240I,SMYD1:NM_198274:exon6:c.T759C:p.I253I 0.31 0.42 0.26 0.16 0.36 0.32 0.3315 0.4142 0.2918 0.1443 0.3246 0.3569 0.3271 0.3057 0.38 0.41 0.36 0.46 0.25 rs2919881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3266 0.4168 0.2882 0.2962 0.1499 0.3326 0.3590 0.3597 0.3041 0.3546 0.4131 0.2986 0.3113 0.1506 0.3266 0.3532 0.3558 het 2846.01 219 2 88396174 . T C 2846.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.581;DP=219;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6474;MQ=59.21;MQ0=0;MQRankSum=0.962;QD=13.00;ReadPosRankSum=-1.016;VQSLOD=5.2273;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,111:219:99:2876,0,3042 2 88424066 88424066 T C exonic FABP1 nonsynonymous SNV FABP1:NM_001443:exon3:c.A280G:p.T94A 0.22 0.14 0.35 0.21 0.35 0.14 0.2984 0.1692 0.3084 0.2100 0.4873 0.3409 0.3205 0.1702 0.27 0.17 0.32 0.28 0.26 rs2241883 COSM4001779 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.562 0.079 T 0.001 0.067 B 0.009 0.133 B 0.185 0.170 N 1 0.090 P 2.13 0.595 M 2.61 0.131 T -1.94 0.450 N 0.05 0.067 -0.930 0.442 T 0.000 0.000 T . . . 0.432 0.136 6.888 0.864 0.160 0.191 0.203 N c -0.602 -0.543 1.000 0.434 0.487 0.133 0 1.35 0.210 0.553 0.229 1.061 0.807 0.001 0.137 1.000 0.888 6.232 0.198 Calycin|Calycin-like ENSG00000163586.5|ENSG00000163586.5|ENSG00000163586.5 Brain_Frontal_Cortex_BA9|Muscle_Skeletal|Nerve_Tibial 0.3044 0.1664 0.3087 0.3370 0.2059 0.4917 0.3319 0.3126 0.1745 0.3091 0.1714 0.3170 0.3188 0.2092 0.4994 0.3526 0.3476 hom 5926.34 195 2 88424066 . T C 5926.34 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7356;MQ=59.66;MQ0=0;QD=30.39;VQSLOD=8.9066;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:5926,442,0 2 88472791 88472791 G A exonic THNSL2 nonsynonymous SNV THNSL2:NM_018271:exon1:c.G122A:p.G41E,THNSL2:NM_001244676:exon2:c.G122A:p.G41E 0.87 0.91 0.78 0.86 0.88 0.87 0.8563 0.9136 0.7331 0.8435 0.8712 0.8655 0.8717 0.8694 0.88 0.92 0.86 0.88 0.84 rs4129190 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.030 0.254 N 1.000 0.182 P -1.495 0.005 N 1.74 0.263 T 1.72 0.010 N 0.074 0.398 -0.982 0.347 T 0.000 0.000 T . . . 0.155 0.109 4.197 0.203 0.007 0.280 0.232 N c -0.957 -0.679 0.388 0.200 0.615 0.372 0 4.19 0.485 2.311 0.431 0.188 0.248 1.000 0.715 0.115 0.194 5.462 0.158 Threonine synthase\x2c N-terminal|Tryptophan synthase beta subunit-like PLP-dependent enzyme ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000163586.5|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.8494 0.9160 0.7426 0.9069 0.8427 0.8689 0.8590 0.8676 0.8663 0.8759 0.9105 0.7667 0.9305 0.8434 0.8754 0.8645 0.8745 hom 3634.38 122 2 88472791 . G A 3634.38 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.62;MQ0=0;QD=29.79;VQSLOD=8.9141;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3634,280,0 2 88825965 88825965 G A exonic TEX37 nonsynonymous SNV TEX37:NM_152670:exon3:c.G70A:p.D24N 0.017 0.052 0.0058 . 0.008 0.002 0.0106 0.0464 0.0040 0 0.0018 0.0096 0.0055 0.0060 0.021 0.043 0.01 0.022 . rs35750657 . . . . . . . . . . . . . 0.078 0.339 T 0.35 0.319 B 0.045 0.231 B 0.063 0.220 N 1.000 0.199 N 1.74 0.453 L 0.37 0.577 T -4.89 0.814 D 0.009 0.001 -1.100 0.041 T 0.014 0.054 T . . . 3.567 0.486 23.1 0.992 0.548 0.448 0.272 N c -0.554 -0.544 0.000 0.067 0.554 0.246 0 1.09 0.194 1.546 0.356 1.048 0.713 0.960 0.334 0.517 0.274 4.253 0.101 . . . 0.0095 0.0478 0.0047 0.0315 0 0.0019 0.0076 0.0100 0.0064 0.0162 0.0457 0.0036 0.0167 0 0.0017 0.0055 0.0072 het 1637.68 136 2 88825965 . G A 1637.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.581;DP=136;Dels=0.00;FS=2.231;HRun=1;HaplotypeScore=1.6483;MQ=58.85;MQ0=0;MQRankSum=-0.210;QD=12.04;ReadPosRankSum=0.621;VQSLOD=6.1892;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,61:136:99:1668,0,1635 2 88874891 88874891 C A exonic EIF2AK3 nonsynonymous SNV EIF2AK3:NM_001313915:exon13:c.G1657T:p.A553S,EIF2AK3:NM_004836:exon13:c.G2110T:p.A704S 0.72 0.98 0.67 0.51 0.7 0.63 0.7021 0.9508 0.6730 0.5076 0.6537 0.7193 0.6821 0.6180 0.8 0.94 0.73 0.79 0.8 rs1805165 . . Likely benign|Benign not_specified|Wolcott-Rallison_dysplasia RCV000116968.2|RCV000374096.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0432217:226980:ORPHA1667:254066006 . . . . . . 1.0 0.010 T 0.003 0.102 B 0.003 0.080 B 0.000 0.843 N 1.000 0.198 P -0.09 0.047 N -0.43 0.710 T 1.11 0.013 N 0.136 0.157 -0.930 0.442 T 0.000 0.000 T . . . 1.963 0.297 15.98 0.876 0.168 0.076 0.135 N c -0.764 -0.464 1.000 0.443 0.722 0.854 0 4.91 0.638 2.726 0.467 0.242 0.267 1.000 0.715 0.998 0.697 9.150 0.359 Protein kinase domain ENSG00000234028.3|ENSG00000234028.3|ENSG00000234028.3|ENSG00000234028.3 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis 0.6969 0.9529 0.6786 0.7771 0.5063 0.6522 0.7205 0.6924 0.6182 0.7688 0.9445 0.7088 0.7815 0.5186 0.6582 0.7264 0.7051 hom 5100.89 149 2 88874891 . C A 5100.89 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.709;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6780;MQ=59.69;MQ0=0;MQRankSum=1.709;QD=34.23;ReadPosRankSum=-0.257;VQSLOD=6.1238;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,147:149:99:5100,397,0 2 88879131 88879131 T C exonic EIF2AK3 synonymous SNV EIF2AK3:NM_001313915:exon11:c.A1338G:p.Q446Q,EIF2AK3:NM_004836:exon11:c.A1791G:p.Q597Q 0.26 0.2 0.36 0.31 0.31 0.16 0.2854 0.2199 0.3802 0.3068 0.3393 0.3024 0.2884 0.1595 0.27 0.22 0.3 0.22 0.35 rs1805164 COSM3746551;COSM3746552 1(haematopoietic_and_lymphoid_tissue);1(liver) Likely benign|Benign not_specified|Wolcott-Rallison_dysplasia RCV000116967.2|RCV000396340.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0432217:226980:ORPHA1667:254066006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2914 0.2187 0.3802 0.2824 0.3044 0.3452 0.2998 0.2891 0.1580 0.2903 0.2258 0.3735 0.2748 0.3240 0.3397 0.3066 0.3173 het 1079.50 78 2 88879131 . T C 1079.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.678;DP=78;Dels=0.00;FS=2.466;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=0.779;QD=13.84;ReadPosRankSum=-1.009;VQSLOD=5.6145;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,39:78:99:1109,0,1075 2 88895123 88895123 T C exonic EIF2AK3 nonsynonymous SNV EIF2AK3:NM_001313915:exon3:c.A44G:p.Q15R,EIF2AK3:NM_004836:exon3:c.A497G:p.Q166R 0.65 0.89 0.61 0.47 0.65 0.54 0.6379 0.8677 0.5613 0.4712 0.5962 0.6669 0.6222 0.5339 0.73 0.86 0.67 0.72 0.75 rs13045 COSM4001781;COSM4001780 1(haematopoietic_and_lymphoid_tissue);1(pancreas) other|Benign not_specified|Wolcott-Rallison_dysplasia RCV000116970.3|RCV000283479.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0432217:226980:ORPHA1667:254066006 . . . . . . 0.924 0.025 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.208 P -2.045 0.002 N 1.63 0.280 T 0.81 0.022 N 0.117 0.129 -0.950 0.410 T 0.000 0.000 T . . . 1.089 0.199 11.15 0.821 0.136 0.259 0.226 N c -0.678 -0.302 1.000 0.747 0.706 0.609 0 6.16 0.993 5.571 0.669 0.069 0.176 1.000 0.715 0.989 0.536 15.877 0.789 Quinoprotein alcohol dehydrogenase-like domain|Quinoprotein alcohol dehydrogenase-like superfamily;Quinoprotein alcohol dehydrogenase-like superfamily ENSG00000234028.3|ENSG00000234028.3|ENSG00000153574.8|ENSG00000234028.3 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis 0.6310 0.8708 0.5757 0.7275 0.4702 0.5915 0.6661 0.6328 0.5319 0.7040 0.8633 0.6091 0.7285 0.4832 0.6032 0.6675 0.6391 hom 1930.79 67 2 88895123 . T C 1930.79 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.53;MQ0=0;QD=28.82;VQSLOD=7.7957;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1964,159,0 2 95847041 95847043 GCG - exonic ZNF2 nonframeshift deletion ZNF2:NM_001291604:exon3:c.228_230del:p.R80del,ZNF2:NM_001017396:exon4:c.342_344del:p.R118del,ZNF2:NM_001282398:exon4:c.354_356del:p.R122del,ZNF2:NM_001291605:exon5:c.507_509del:p.R173del,ZNF2:NM_021088:exon5:c.468_470del:p.R160del 1. 1. 1. 1. 0.99 0.99 0.9918 0.9985 0.9959 1 0.9940 0.9884 0.9956 0.9933 0.99 1. 0.99 0.022 . rs397802135 COSM5713064 5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9918 0.9984 0.9957 0.981 1 0.9948 0.9885 0.9900 0.9933 0.9921 0.9983 0.9976 0.9834 0.9994 0.9943 0.9872 0.9898 hom 4455.29 112 2 95847040 . TGCG T 4455.29 Mask AC=2;AF=1.00;AN=2;DP=112;FS=0.000;HRun=0;HaplotypeScore=491.0651;MQ=54.48;MQ0=0;QD=39.78;set=variant2 GT:AD:DP:GQ:PL 1/1:13,99:112:99:4455,295,0 2 95947085 95947085 A G exonic PROM2 nonsynonymous SNV PROM2:NM_001165977:exon12:c.A1523G:p.Q508R,PROM2:NM_001165978:exon12:c.A1523G:p.Q508R,PROM2:NM_001321070:exon12:c.A485G:p.Q162R,PROM2:NM_144707:exon12:c.A1523G:p.Q508R 0.8 0.91 0.87 0.69 0.77 0.75 0.7749 0.8825 0.8791 0.6647 0.7641 0.7702 0.7715 0.7153 0.8 0.88 0.76 0.71 0.73 rs12992066 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.909 0.074 N 1 0.090 P -0.82 0.015 N 0.9 0.453 T 0.22 0.047 N 0.046 0.026 -0.984 0.340 T 0.000 0.000 T . . . -3.061 0.001 0.001 0.079 0.001 0.027 0.072 N c -2.035 -1.947 0.027 0.138 0.554 0.246 0 -3.94 0.038 0.303 0.188 -2.510 0.003 0.998 0.411 0.788 0.332 14.375 0.663 . ENSG00000155066.11|ENSG00000155066.11|ENSG00000223564.1|ENSG00000155066.11|ENSG00000155066.11|ENSG00000115041.8|ENSG00000155066.11|ENSG00000223564.1|ENSG00000115041.8|ENSG00000155066.11 Adipose_Visceral_Omentum|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cortex|Cells_Transformed_fibroblasts|Nerve_Tibial|Pancreas|Thyroid|Thyroid 0.7747 0.8830 0.8742 0.7961 0.6613 0.7618 0.7645 0.7841 0.7129 0.7940 0.8780 0.8648 0.8013 0.6410 0.7700 0.7647 0.7674 hom 5154.08 154 2 95947085 . A G 5154.08 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.31;MQ0=0;QD=33.47;VQSLOD=9.6368;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:5153,406,0 2 96780716 96780716 T G exonic ADRA2B synonymous SNV ADRA2B:NM_000682:exon2:c.A1173C:p.G391G 0.71 0.77 0.66 0.6 0.68 0.79 0.6785 0.7454 0.6575 0.5587 0.5348 0.6760 0.7225 0.7774 0.7 0.75 0.68 0.67 . rs2229169 COSM5619262;COSM5619263 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6717 0.7429 0.6569 0.7994 0.5572 0.5383 0.6692 0.6973 0.7758 0.6583 0.7483 0.6866 0.7848 0.5273 0.5289 0.6505 0.5918 het 444.57 33 2 96780716 . T G 444.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.831;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=58.59;MQ0=0;MQRankSum=0.000;QD=13.47;ReadPosRankSum=-1.133;VQSLOD=5.9451;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:475,0,417 2 96781853 96781853 T C exonic ADRA2B synonymous SNV ADRA2B:NM_000682:exon1:c.A36G:p.T12T 0.096 0.085 0.13 0.2 0.04 0.037 0.0729 0.0759 0.2058 0.2005 0.0361 0.0437 0.0723 0.0386 0.048 0.059 0.042 0.065 . rs9333567 COSM3766602;COSM3766601 2(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0689 0.0667 0.1724 0.0557 0.1807 0.0285 0.0388 0.0613 0.0351 0.0543 0.0724 0.1364 0.0567 0.1665 0.0272 0.0341 0.0432 het 284.14 13 2 96781853 . T C 284.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.437;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=-1.268;QD=21.86;ReadPosRankSum=-0.592;VQSLOD=6.5444;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:3,10:13:43.92:314,0,44 2 96789787 96789787 T C exonic ASTL synonymous SNV ASTL:NM_001002036:exon9:c.A1098G:p.L366L 0.33 0.28 0.38 0.43 0.35 0.23 0.3559 0.2969 0.3604 0.4644 0.4855 0.3638 0.3133 0.2518 0.34 0.3 0.36 0.34 0.31 rs893173 COSM443381 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3594 0.2950 0.3621 0.2551 0.4632 0.4806 0.3672 0.3368 0.2523 0.3726 0.2940 0.3333 0.2649 0.4864 0.4908 0.3786 0.4355 hom 3847.32 115 2 96789787 . T C 3847.32 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.28;MQ0=0;QD=33.17;VQSLOD=9.7452;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3847,295,0 2 96795608 96795608 T G exonic ASTL nonsynonymous SNV ASTL:NM_001002036:exon8:c.A829C:p.K277Q 0.38 0.28 0.47 0.62 0.36 0.25 0.3932 0.2945 0.5229 0.6325 0.4942 0.3668 0.3403 0.2907 0.34 0.29 0.36 0.36 0.31 rs1657502 COSM3758413 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.079 0.337 T 0.026 0.181 B 0.025 0.193 B 0.257 0.154 N 1 0.090 P 0.52 0.136 N -0.1 0.643 T -1.63 0.391 N 0.049 0.030 -0.907 0.473 T 0.000 0.000 T . . . 1.154 0.205 11.51 0.939 0.233 0.261 0.227 N c -0.723 -0.744 0.093 0.162 0.660 0.495 0 -2.33 0.063 0.866 0.274 0.964 0.580 0.637 0.278 0.080 0.181 12.28 0.539 Metallopeptidase\x2c catalytic domain|Peptidase M12A\x2c astacin ENSG00000232931.1|ENSG00000186281.8|ENSG00000231584.4|ENSG00000222040.3|ENSG00000186281.8|ENSG00000231584.4|ENSG00000144021.2|ENSG00000231584.4|ENSG00000144021.2|ENSG00000114988.7|ENSG00000135956.4|ENSG00000232931.1|ENSG00000222040.3|ENSG00000186281.8|ENSG00000222040.3|ENSG00000188886.3|ENSG00000186281.8|ENSG00000222040.3|ENSG00000186281.8|ENSG00000222040.3|ENSG00000144021.2|ENSG00000235584.2|ENSG00000198885.5|ENSG00000135956.4|ENSG00000231584.4|ENSG00000186281.8|ENSG00000231584.4|ENSG00000222040.3|ENSG00000144021.2|ENSG00000186281.8|ENSG00000174501.10|ENSG00000222040.3|ENSG00000144021.2|ENSG00000186281.8|ENSG00000186281.8|ENSG00000231584.4|ENSG00000144021.2|ENSG00000231584.4|ENSG00000232931.1|ENSG00000144021.2|ENSG00000186281.8|ENSG00000222040.3|ENSG00000231584.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3933 0.2914 0.5114 0.2393 0.6264 0.4897 0.3678 0.3572 0.2588 0.3856 0.2901 0.4415 0.2616 0.6428 0.4989 0.3821 0.4489 hom 2677.57 85 2 96795608 . T G 2677.57 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7305;MQ=58.27;MQ0=0;QD=31.50;VQSLOD=8.6602;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2711,211,0 2 96795714 96795714 G A exonic ASTL synonymous SNV ASTL:NM_001002036:exon8:c.C723T:p.L241L 0.38 0.28 0.47 0.6 0.36 0.25 0.3848 0.2919 0.5203 0.6171 0.4979 0.3644 0.3330 0.2633 0.34 0.3 0.36 0.37 0.32 rs749459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3924 0.2924 0.5106 0.2370 0.6128 0.4940 0.3685 0.3593 0.2577 0.3853 0.2894 0.4427 0.2550 0.6340 0.5020 0.3821 0.4507 hom 2175.09 65 2 96795714 . G A 2175.09 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=33.46;VQSLOD=9.7373;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2208,178,0 2 96795857 96795857 T C exonic ASTL nonsynonymous SNV ASTL:NM_001002036:exon7:c.A665G:p.Q222R 0.93 0.99 0.87 1. 0.77 0.97 0.8596 0.9683 0.9003 0.9994 0.8465 0.7970 0.8278 0.9494 0.85 0.96 0.8 0.91 0.8 rs749458 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.770 0.095 N 1 0.090 P -0.46 0.027 N 0.02 0.623 T 0.06 0.063 N 0.019 0.004 -0.952 0.406 T 0.000 0.000 T . . . -0.441 0.059 0.308 0.493 0.041 0.037 0.089 N c -1.243 -1.142 0.028 0.138 0.660 0.495 0 -1.91 0.072 -0.564 0.060 -0.417 0.060 0.000 0.063 0.828 0.346 1.337 0.020 Metallopeptidase\x2c catalytic domain|Peptidase M12A\x2c astacin|Peptidase\x2c metallopeptidase ENSG00000232931.1|ENSG00000198885.5|ENSG00000174501.10|ENSG00000237510.3|ENSG00000198885.5|ENSG00000198885.5|ENSG00000237510.3|ENSG00000198885.5|ENSG00000198885.5|ENSG00000174501.10|ENSG00000237510.3|ENSG00000198885.5|ENSG00000198885.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Nerve_Tibial|Testis|Thyroid|Whole_Blood 0.8585 0.9704 0.8915 0.7477 0.9997 0.8487 0.7999 0.8279 0.9483 0.8681 0.9624 0.8660 0.7450 0.9994 0.8503 0.8079 0.8347 hom 4233.57 152 2 96795857 . T C 4233.57 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=59.33;MQ0=0;QD=27.85;VQSLOD=7.9733;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,152:152:99:4233,340,0 2 96798305 96798305 C T exonic ASTL nonsynonymous SNV ASTL:NM_001002036:exon6:c.G611A:p.R204H 0.029 0.041 0.03 0.012 0.034 0.024 0.0300 0.0259 0.0161 0.0126 0.0178 0.0370 0.0332 0.0283 0.037 0.027 0.042 0.011 0.016 rs41320144 COSM2150335 1(haematopoietic_and_lymphoid_tissue);1(central_nervous_system) . . . . . . . . . . . 0.081 0.334 T 0.019 0.167 B 0.013 0.154 B 0.233 0.159 N 1 0.090 N 2.09 0.581 M -0.06 0.636 T -2.78 0.589 D 0.075 0.065 -1.038 0.179 T 0.042 0.181 T . . . 2.397 0.349 18.80 0.992 0.564 0.066 0.124 N c -0.842 -0.807 0.059 0.152 0.660 0.495 0 0.941 0.186 -0.365 0.076 -0.423 0.059 0.000 0.063 0.323 0.241 7.254 0.252 Metallopeptidase\x2c catalytic domain|Peptidase M12A\x2c astacin|Peptidase\x2c metallopeptidase ENSG00000204685.5 Skin_Sun_Exposed_Lower_leg 0.0293 0.0249 0.0188 0.0544 0.0122 0.0185 0.0361 0.0337 0.0274 0.0265 0.0284 0.0251 0.0497 0.0080 0.0186 0.0290 0.0246 het 1142.57 82 2 96798305 . C T 1142.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.888;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=60.00;MQ0=0;MQRankSum=0.441;QD=13.93;ReadPosRankSum=0.246;VQSLOD=6.1312;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,42:82:99:1173,0,1071 2 96944553 96944553 G A exonic SNRNP200 synonymous SNV SNRNP200:NM_014014:exon37:c.C5317T:p.L1773L 0.25 0.076 0.32 0.43 0.31 0.17 0.3097 0.1121 0.3341 0.4568 0.4711 0.3305 0.2874 0.1931 0.25 0.11 0.32 0.3 0.29 rs772175 COSM3758414 1(thyroid);1(large_intestine) Likely benign Retinitis_Pigmentosa\x2c_Dominant RCV000344985.1 MedGen CN239354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3174 0.1117 0.3338 0.1953 0.4565 0.4664 0.3346 0.2980 0.1960 0.3055 0.1139 0.2947 0.2086 0.4844 0.4768 0.3537 0.4092 het 952.83 96 2 96944553 . G A 952.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.882;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2200;MQ=59.13;MQ0=0;MQRankSum=0.860;QD=9.93;ReadPosRankSum=-1.007;VQSLOD=5.3513;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,35:96:99:983,0,1808 2 96993757 96993757 C T exonic ITPRIPL1 nonsynonymous SNV ITPRIPL1:NM_178495:exon1:c.C1412T:p.T471M,ITPRIPL1:NM_001163523:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001163524:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001324490:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001008949:exon3:c.C1388T:p.T463M 0.36 0.24 0.31 0.23 0.32 0.73 0.3510 0.2405 0.3186 0.2018 0.2242 0.3210 0.3598 0.6927 0.31 0.25 0.34 0.25 0.34 rs2279105 COSM4001791;COSM4001790 4(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.095 0.319 T 0.998 0.715 D 0.534 0.511 P 0.045 0.236 N 1 0.090 P 1.61 0.413 L 3.11 0.082 T -1.25 0.316 N 0.206 0.458 -0.727 0.591 T 0.000 0.000 T . . . 3.855 0.520 23.4 0.997 0.834 0.340 0.247 N c 0.098 0.106 1.000 0.517 0.732 0.924 0 5.5 0.813 2.627 0.459 0.935 0.490 0.118 0.229 0.990 0.544 18.332 0.902 Mab-21 domain ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000186281.8|ENSG00000237510.3|ENSG00000144021.2|ENSG00000230747.1|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000230747.1|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000229689.2|ENSG00000237510.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3473 0.2360 0.3150 0.4199 0.1939 0.2324 0.3181 0.3539 0.6884 0.2766 0.2449 0.3278 0.4139 0.1741 0.2256 0.3123 0.2791 het 2607.43 196 2 96993757 . C T 2607.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.279;DP=196;Dels=0.00;FS=4.389;HRun=0;HaplotypeScore=9.7253;MQ=59.13;MQ0=0;MQRankSum=-0.438;QD=13.30;ReadPosRankSum=0.019;VQSLOD=4.2769;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,96:196:99:2637,0,2425 2 96993884 96993884 A G exonic ITPRIPL1 synonymous SNV ITPRIPL1:NM_178495:exon1:c.A1539G:p.P513P,ITPRIPL1:NM_001163523:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001163524:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001324490:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001008949:exon3:c.A1515G:p.P505P 0.38 0.28 0.32 0.28 0.32 0.73 0.3570 0.2739 0.3195 0.2414 0.2239 0.3213 0.3664 0.6932 0.32 0.28 0.34 0.28 0.33 rs1048675 COSM148904;COSM4419107 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3525 0.2689 0.3161 0.4199 0.2348 0.2322 0.3183 0.3563 0.6890 0.2879 0.2793 0.3261 0.4139 0.2053 0.2269 0.3117 0.2825 het 1353.97 108 2 96993884 . A G 1353.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.472;DP=108;Dels=0.00;FS=0.729;HRun=0;HaplotypeScore=4.2616;MQ=58.99;MQ0=0;MQRankSum=1.568;QD=12.54;ReadPosRankSum=-1.346;VQSLOD=4.8608;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,58:108:99:1384,0,1432 2 97030247 97030247 T C exonic NCAPH nonsynonymous SNV NCAPH:NM_001281712:exon12:c.T1208C:p.V403A,NCAPH:NM_001281710:exon13:c.T1583C:p.V528A,NCAPH:NM_001281711:exon13:c.T1544C:p.V515A,NCAPH:NM_015341:exon13:c.T1616C:p.V539A 0.38 0.28 0.32 0.28 0.32 0.73 0.3577 0.2748 0.3209 0.2421 0.2245 0.3215 0.3689 0.6951 0.32 0.28 0.34 0.3 0.33 rs2305935 COSM148906 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.939 0.036 T 0.0 0.026 B 0.0 0.013 B 0.022 0.266 N 1 0.090 P -2.175 0.001 N 1.12 0.387 T 0.92 0.016 N 0.01 0.199 -0.967 0.378 T 0.000 0.000 T . . . -0.984 0.033 0.017 0.168 0.005 0.001 0.005 N c -1.251 -1.112 0.606 0.218 0.707 0.730 0 4.16 0.480 1.017 0.294 -0.900 0.026 0.088 0.223 0.020 0.134 9.591 0.385 . ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000186281.8|ENSG00000237510.3|ENSG00000144021.2|ENSG00000230747.1|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000230747.1|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000229689.2|ENSG00000237510.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3529 0.2708 0.3169 0.4180 0.2350 0.2321 0.3182 0.3574 0.6910 0.2887 0.2816 0.3270 0.4106 0.2033 0.2259 0.3122 0.2872 het 1254.50 113 2 97030247 . T C 1254.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.315;DP=113;Dels=0.00;FS=1.587;HRun=0;HaplotypeScore=5.7826;MQ=59.02;MQ0=0;MQRankSum=-0.216;QD=11.10;ReadPosRankSum=0.672;VQSLOD=5.1697;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,51:113:99:1284,0,1460 2 97166204 97166204 A G exonic NEURL3 synonymous SNV NEURL3:NM_001285485:exon2:c.T486C:p.Y162Y,NEURL3:NM_001285486:exon3:c.T12C:p.Y4Y 0.73 0.6 0.77 0.83 0.61 0.89 0.7025 0.6192 0.8321 0.8390 0.6574 0.6277 0.6723 0.8847 0.63 0.61 0.63 0.62 . rs3731938 COSN6685611 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7034 0.6021 0.8196 0.5949 0.8374 0.6514 0.6247 0.6642 0.8816 0.6423 0.6026 0.7632 0.5993 0.8426 0.6465 0.6337 0.6883 het 489.05 27 2 97166204 . A G 489.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.186;DP=27;Dels=0.00;FS=10.462;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=0.929;QD=18.11;ReadPosRankSum=0.292;VQSLOD=2.9909;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,19:27:99:519,0,181 2 97526963 97526963 C T exonic SEMA4C synonymous SNV SEMA4C:NM_017789:exon15:c.G1902A:p.A634A 0.005 . 0.0072 . 0.019 0.001 0.0196 0.0053 0.0068 0.0001 0.0281 0.0305 0.0190 0.0014 0.018 0.0039 0.025 0.022 0.0082 rs71427097 COSM6049665 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0194 0.0051 0.0079 0.0221 0.0001 0.0301 0.0309 0.0191 0.0014 0.0188 0.0047 0.0060 0.0099 0 0.0252 0.0285 0.0183 het 904.94 67 2 97526963 . C T 904.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.019;DP=67;Dels=0.00;FS=4.963;HRun=0;HaplotypeScore=0.8941;MQ=58.75;MQ0=0;MQRankSum=0.948;QD=13.51;ReadPosRankSum=1.613;VQSLOD=4.6105;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,35:67:99:935,0,815 2 97559759 97559759 G A exonic FAM178B synonymous SNV FAM178B:NM_001172667:exon2:c.C57T:p.L19L,FAM178B:NM_001122646:exon14:c.C1680T:p.L560L 0.43 0.24 0.44 0.68 0.15 0.71 0.3427 0.2680 0.5751 0.6457 0.1779 0.1982 0.3229 0.6810 0.21 0.25 0.18 0.43 0.11 rs11677797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3292 0.2552 0.5342 0.2156 0.6361 0.1643 0.1824 0.2700 0.6623 0.2272 0.2552 0.4690 0.2119 0.6115 0.1630 0.1723 0.2122 het 326.31 39 2 97559759 . G A 326.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.425;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;MQRankSum=-1.801;QD=8.37;ReadPosRankSum=-0.483;VQSLOD=5.3142;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,14:39:99:356,0,719 2 98164184 98164184 C G exonic ANKRD36B nonsynonymous SNV ANKRD36B:NM_025190:exon21:c.G1488C:p.E496D 0.29 0.1 0.42 0.18 0.64 0.19 0.5100 0.2335 0.4574 0.3042 0.7463 0.6502 0.5361 0.2339 0.49 0.19 0.63 0.17 . rs13001728 COSN15302854;COSN20281940;COSN19622923 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.043 0.202 B 0.007 0.121 B . . . . . . 0.55 0.145 N . . . . . . 0.074 0.064 . . . . . . . . . -0.525 0.054 0.191 0.197 0.007 0.004 0.020 N n -0.516 -0.221 0.000 0.066 0.106 0.022 0 -1.38 0.085 -1.180 0.032 -0.424 0.059 0.001 0.137 0.000 0.016 2.573 0.045 . ENSG00000135976.12|ENSG00000196912.8|ENSG00000196912.8|ENSG00000196912.8|ENSG00000196912.8|ENSG00000115085.9|ENSG00000115073.6|ENSG00000196912.8|ENSG00000115085.9|ENSG00000235833.1|ENSG00000196912.8|ENSG00000115085.9|ENSG00000235833.1|ENSG00000196912.8|ENSG00000135976.12|ENSG00000135976.12|ENSG00000196912.8|ENSG00000196912.8|ENSG00000228486.5|ENSG00000196912.8|ENSG00000135976.12|ENSG00000196912.8|ENSG00000228486.5|ENSG00000144199.7|ENSG00000115073.6|ENSG00000135976.12|ENSG00000196912.8|ENSG00000196912.8|ENSG00000144199.7|ENSG00000135976.12|ENSG00000144199.7|ENSG00000135976.12|ENSG00000196912.8|ENSG00000144199.7|ENSG00000196912.8|ENSG00000228486.5|ENSG00000230606.6|ENSG00000115085.9|ENSG00000135976.12|ENSG00000196912.8|ENSG00000235833.1|ENSG00000135940.2|ENSG00000196912.8|ENSG00000196912.8|ENSG00000228486.5|ENSG00000135976.12|ENSG00000196912.8|ENSG00000230606.6|ENSG00000196912.8|ENSG00000196912.8|ENSG00000115085.9|ENSG00000135976.12|ENSG00000196912.8|ENSG00000235833.1|ENSG00000196912.8|ENSG00000196912.8|ENSG00000115085.9|ENSG00000135976.12|ENSG00000168754.9|ENSG00000235833.1|ENSG00000135976.12|ENSG00000196912.8|ENSG00000196912.8|ENSG00000196912.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood 0.4757 0.1695 0.3492 0.4563 0.2022 0.7327 0.6417 0.5264 0.2116 0.5128 0.1914 0.3864 0.4305 0.2170 0.7377 0.6791 0.6327 hom 367.76 15 2 98164184 . C G 367.76 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=49.95;MQ0=0;QD=24.52;VQSLOD=4.1972;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:30.08:401,30,0 2 98274527 98274527 G C exonic ACTR1B synonymous SNV ACTR1B:NM_005735:exon8:c.C804G:p.V268V 0.53 0.71 0.54 0.37 0.74 0.24 0.6071 0.6943 0.4011 0.3881 0.7691 0.7276 0.6228 0.2581 0.71 0.69 0.72 0.63 0.71 rs1042705 COSM3720702 4(haematopoietic_and_lymphoid_tissue);2(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6038 0.6887 0.4262 0.6329 0.3890 0.7701 0.7329 0.6621 0.2674 0.7040 0.6859 0.4856 0.6424 0.3728 0.7700 0.7468 0.7249 hom 4866.66 145 2 98274527 . G C 4866.66 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=3.1222;MQ=59.19;MQ0=0;QD=33.56;VQSLOD=9.0558;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:145:99:4866,382,0 2 98354511 98354511 G A exonic ZAP70 synonymous SNV ZAP70:NM_207519:exon5:c.G756A:p.E252E,ZAP70:NM_001079:exon13:c.G1677A:p.E559E 0.15 0.087 0.21 0.011 0.36 0.11 0.3012 0.1427 0.2156 0.0074 0.5710 0.3847 0.3026 0.1455 0.27 0.13 0.34 0.098 0.38 rs3192177 COSM4134221 1(thyroid) Benign|Benign not_specified|Severe_Combined_Immune_Deficiency RCV000126355.3|RCV000356778.1 MedGen|MedGen CN169374|CN239264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2753 0.1199 0.1884 0.2017 0.0065 0.5279 0.3593 0.2808 0.1377 0.2964 0.1258 0.2266 0.1623 0.0049 0.5158 0.3765 0.3928 het 683.70 39 2 98354511 . G A 683.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.223;DP=39;Dels=0.00;FS=2.974;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.938;QD=17.53;ReadPosRankSum=1.773;VQSLOD=5.4736;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,26:39:99:714,0,341 2 98409046 98409046 G A exonic TMEM131 nonsynonymous SNV TMEM131:NM_015348:exon31:c.C3947T:p.P1316L 0.15 0.052 0.2 0.012 0.39 0.12 0.2963 0.1001 0.1786 0.0085 0.5775 0.3916 0.3009 0.1423 0.28 0.097 0.37 0.054 . rs12995673 COSM3766607;COSM3766606 1(breast);1(bone);1(pancreas);1(liver);1(thyroid) . . . . . . . . . . . 0.022 0.486 D 0.004 0.112 B 0.001 0.040 B 0.464 0.123 N 0.313 0.333 P 1.61 0.413 L 2.17 0.190 T -1.2 0.305 N 0.063 0.048 -0.923 0.452 T 0.000 0.000 T . . . 2.185 0.324 17.41 0.971 0.320 0.838 0.426 D c -0.275 -0.094 0.378 0.199 0.706 0.609 0 3.94 0.446 2.500 0.448 1.048 0.713 0.996 0.391 0.747 0.321 8.894 0.344 . ENSG00000196912.8|ENSG00000115073.6|ENSG00000196912.8|ENSG00000115073.6|ENSG00000228486.5|ENSG00000196912.8|ENSG00000235833.1|ENSG00000196912.8|ENSG00000075568.12 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Colon_Sigmoid|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.2941 0.0927 0.1908 0.2137 0.0087 0.5715 0.3905 0.2984 0.1453 0.3126 0.1009 0.2243 0.1689 0.0074 0.5699 0.4101 0.4117 het 304.63 21 2 98409046 . G A 304.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.091;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.77;MQ0=0;MQRankSum=-0.533;QD=14.51;ReadPosRankSum=2.452;VQSLOD=5.1520;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,12:21:99:335,0,234 2 98809432 98809432 T C exonic VWA3B nonsynonymous SNV VWA3B:NM_001345864:exon5:c.T509C:p.I170T,VWA3B:NM_144992:exon11:c.T1538C:p.I513T 0.017 . 0.011 . 0.067 0.0092 0.0444 0.0105 0.0137 0 0.1071 0.0606 0.0523 0.0182 0.044 0.015 0.057 0.011 0.041 rs74735968 . . . . . . . . . . . . . 0.002 0.721 D 1.0 0.899 D 0.985 0.971 D 0.000 0.537 D 0.581 0.311 N 3.495 0.929 M 1.64 0.278 T -4.12 0.750 D 0.442 0.593 -0.290 0.753 T 0.151 0.480 T . . . 4.640 0.622 24.5 0.998 0.846 0.929 0.567 D c 0.663 0.582 1.000 0.489 0.497 0.185 0 5.5 0.813 5.465 0.662 0.964 0.580 1.000 0.715 0.760 0.324 14.590 0.678 von Willebrand factor\x2c type A . . 0.0442 0.0089 0.0175 0.0250 5.798e-05 0.1072 0.0603 0.0438 0.0177 0.0460 0.0099 0.0287 0.0199 0 0.1091 0.0579 0.0582 het 2400.04 194 2 98809432 . T C 2400.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.481;DP=194;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=59.64;MQ0=0;MQRankSum=2.849;QD=12.37;ReadPosRankSum=0.794;VQSLOD=4.9200;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:107,87:194:99:2430,0,2731 2 98844674 98844674 C G exonic VWA3B nonsynonymous SNV VWA3B:NM_001345864:exon9:c.C1000G:p.L334V,VWA3B:NM_144992:exon15:c.C2029G:p.L677V 0.69 0.63 0.53 0.8 0.6 0.85 0.6320 0.6309 0.4588 0.7860 0.5689 0.5958 0.6771 0.8437 0.62 0.64 0.61 0.61 0.65 rs7601049 . . . . . . . . . . . . . 0.503 0.077 T 0.319 0.312 B 0.041 0.226 B 0.901 0.086 N 1 0.090 P 1.405 0.356 L 3.4 0.057 T -0.67 0.193 N 0.037 0.141 -0.975 0.362 T 0.000 0.000 T . . . -0.670 0.046 0.085 0.935 0.227 0.016 0.051 N c -0.749 -0.868 0.000 0.066 0.487 0.133 0 -5.07 0.027 -1.185 0.032 0.892 0.403 0.000 0.063 1.000 0.888 3.045 0.057 von Willebrand factor\x2c type A ENSG00000222000.3|ENSG00000144191.7 Cells_Transformed_fibroblasts|Esophagus_Mucosa 0.6273 0.6398 0.4745 0.6422 0.7865 0.5837 0.5971 0.6182 0.8374 0.6111 0.6364 0.5108 0.7119 0.7939 0.5745 0.5883 0.6153 het 1631.21 150 2 98844674 . C G 1631.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.051;DP=150;Dels=0.00;FS=2.976;HRun=0;HaplotypeScore=6.2195;MQ=58.76;MQ0=0;MQRankSum=-2.213;QD=10.87;ReadPosRankSum=-0.176;VQSLOD=3.2127;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,66:150:99:1661,0,2241 2 98853173 98853173 G A exonic VWA3B nonsynonymous SNV VWA3B:NM_001345864:exon13:c.G1624A:p.V542M,VWA3B:NM_144992:exon19:c.G2653A:p.V885M 0.66 0.62 0.49 0.8 0.54 0.83 0.5822 0.6084 0.4352 0.7858 0.5095 0.5265 0.6278 0.8153 0.57 0.61 0.54 0.59 0.56 rs11889349 COSM3758419 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.227 0.185 T 0.029 0.440 B 0.009 0.336 B 0.522 0.052 N 1 0.090 P 1.905 0.510 L 3.2 0.073 T -0.55 0.168 N 0.03 0.184 -1.002 0.292 T 0.000 0.000 T . . . -0.389 0.062 0.412 0.430 0.032 0.033 0.082 N c -1.233 -1.272 0.000 0.053 0.526 0.212 0 0.946 0.186 0.486 0.219 -0.870 0.028 0.005 0.169 0.162 0.208 4.495 0.112 . ENSG00000222000.3|ENSG00000144191.7 Cells_Transformed_fibroblasts|Esophagus_Mucosa 0.5788 0.6166 0.4513 0.6056 0.7860 0.5251 0.5253 0.5664 0.8087 0.5601 0.6092 0.4808 0.6755 0.7944 0.5190 0.5178 0.5615 het 3919.20 241 2 98853173 . G A 3919.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.451;DP=241;DS;Dels=0.00;FS=2.859;HRun=0;HaplotypeScore=5.6218;MQ=59.46;MQ0=0;MQRankSum=-0.286;QD=16.26;ReadPosRankSum=0.217;VQSLOD=4.8304;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,122:241:99:3310,0,3038 2 98928494 98928494 G A exonic VWA3B nonsynonymous SNV VWA3B:NM_001345864:exon21:c.G2705A:p.R902K,VWA3B:NM_144992:exon27:c.G3734A:p.R1245K 0.99 1. 0.99 1. 0.97 1. 0.9727 0.9932 0.9912 1 0.9330 0.9606 0.9644 0.9937 0.97 0.99 0.96 0.99 0.6 rs7587534 COSM4134222 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.205 0.041 N 3.59 0.046 T 0.17 0.051 N 0.002 0.196 -0.943 0.421 T 0.000 0.000 T . . . -1.434 0.018 0.003 0.460 0.036 0.009 0.034 N c -1.881 -1.869 0.840 0.248 0.526 0.212 0 -4.06 0.037 -0.766 0.048 -0.233 0.094 0.001 0.137 0.003 0.074 14.704 0.687 . . . 0.9709 0.9935 0.9877 0.9849 1 0.9304 0.9581 0.9698 0.9932 0.9683 0.9925 0.9821 0.9834 1 0.9313 0.9587 0.9632 het 192.09 14 2 98928494 . G A 192.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.627;DP=14;Dels=0.00;FS=2.027;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.625;QD=13.72;ReadPosRankSum=-0.225;VQSLOD=5.9472;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,8:14:99:222,0,163 2 98986510 98986510 T C exonic CNGA3 synonymous SNV CNGA3:NM_001079878:exon2:c.T72C:p.D24D,CNGA3:NM_001298:exon2:c.T72C:p.D24D 0.09 0.084 0.13 0.0099 0.17 0.075 0.1386 0.1089 0.1055 0.0063 0.1020 0.1814 0.1406 0.0913 0.15 0.11 0.18 0.098 0.18 rs6727412 COSM3758420 1(large_intestine) Benign|Likely benign not_specified|Achromatopsia RCV000251018.1|RCV000301009.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0152200:ORPHA49382:56852002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1330 0.0985 0.1066 0.1381 0.0063 0.1037 0.1823 0.1505 0.0879 0.1270 0.0967 0.1241 0.1093 0.0049 0.0987 0.1637 0.1459 het 1864.43 126 2 98986510 . T C 1864.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.607;DP=126;Dels=0.00;FS=1.491;HRun=1;HaplotypeScore=6.0615;MQ=59.52;MQ0=0;MQRankSum=0.334;QD=14.80;ReadPosRankSum=0.478;VQSLOD=5.0019;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,74:126:99:1894,0,1247 2 99149946 99149946 G A exonic INPP4A synonymous SNV INPP4A:NM_001134224:exon5:c.G258A:p.T86T,INPP4A:NM_001134225:exon5:c.G258A:p.T86T,INPP4A:NM_001351424:exon5:c.G258A:p.T86T,INPP4A:NM_001351425:exon5:c.G258A:p.T86T,INPP4A:NM_001351426:exon5:c.G258A:p.T86T,INPP4A:NM_001351427:exon5:c.G258A:p.T86T,INPP4A:NM_001351428:exon5:c.G258A:p.T86T,INPP4A:NM_001351429:exon5:c.G258A:p.T86T,INPP4A:NM_001566:exon5:c.G258A:p.T86T,INPP4A:NM_004027:exon5:c.G258A:p.T86T 0.23 0.075 0.3 0.3 0.27 0.28 0.2492 0.1122 0.2972 0.2874 0.2001 0.2580 0.27 0.2601 0.21 0.11 0.26 0.17 . rs2278211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2526 0.1095 0.2875 0.3603 0.2824 0.2023 0.2541 0.2816 0.2596 0.2129 0.1179 0.2847 0.3113 0.2983 0.1979 0.2551 0.2327 het 1718.33 157 2 99149946 . G A 1718.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.625;DP=157;Dels=0.00;FS=0.643;HRun=0;HaplotypeScore=0.8321;MQ=59.71;MQ0=0;MQRankSum=-1.051;QD=10.94;ReadPosRankSum=0.080;VQSLOD=6.3740;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:91,66:157:99:1748,0,2452 2 99160361 99160361 G C exonic INPP4A synonymous SNV INPP4A:NM_001134224:exon11:c.G840C:p.L280L,INPP4A:NM_001134225:exon11:c.G840C:p.L280L,INPP4A:NM_001351424:exon11:c.G840C:p.L280L,INPP4A:NM_001351425:exon11:c.G840C:p.L280L,INPP4A:NM_001351426:exon11:c.G840C:p.L280L,INPP4A:NM_001351427:exon11:c.G840C:p.L280L,INPP4A:NM_001351428:exon11:c.G840C:p.L280L,INPP4A:NM_001351429:exon11:c.G840C:p.L280L,INPP4A:NM_001566:exon11:c.G840C:p.L280L,INPP4A:NM_004027:exon11:c.G840C:p.L280L 0.01 0.0008 0.022 . 0.033 0.002 0.0198 0.0048 0.0176 0 0.0301 0.0265 0.0277 0.0084 0.02 0.005 0.028 0.011 . rs2230387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0188 0.0043 0.0168 0.0173 0 0.0301 0.0252 0.0235 0.0069 0.0199 0.0049 0.0155 0.0132 0 0.0298 0.0285 0.0255 het 459.46 40 2 99160361 . G C 459.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.711;DP=40;Dels=0.00;FS=1.264;HRun=0;HaplotypeScore=0.7340;MQ=59.42;MQ0=0;MQRankSum=1.219;QD=11.49;ReadPosRankSum=-0.433;VQSLOD=5.9407;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,21:40:99:489,0,490 2 99193496 99193496 C T exonic INPP4A synonymous SNV INPP4A:NM_001351429:exon23:c.C2526T:p.S842S,INPP4A:NM_001134225:exon24:c.C2676T:p.S892S,INPP4A:NM_001351428:exon24:c.C2559T:p.S853S,INPP4A:NM_001134224:exon25:c.C2691T:p.S897S,INPP4A:NM_001351424:exon25:c.C2577T:p.S859S,INPP4A:NM_001351425:exon25:c.C2577T:p.S859S,INPP4A:NM_001351426:exon25:c.C2577T:p.S859S,INPP4A:NM_001351427:exon25:c.C2574T:p.S858S,INPP4A:NM_001566:exon25:c.C2574T:p.S858S,INPP4A:NM_004027:exon25:c.C2574T:p.S858S 0.26 0.16 0.3 0.29 0.27 0.31 0.2590 0.1746 0.3049 0.2973 0.2165 0.2574 0.2872 0.2786 0.23 0.17 0.26 0.24 . rs2230388 COSM4134227;COSM4134230;COSM4134228;COSM4134229 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2593 0.1700 0.2949 0.3215 0.2923 0.2156 0.2532 0.2796 0.2767 0.2294 0.1729 0.2854 0.2933 0.3079 0.2106 0.2530 0.2418 het 2162.70 183 2 99193496 . C T 2162.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.663;DP=183;Dels=0.00;FS=3.585;HRun=0;HaplotypeScore=4.1137;MQ=59.31;MQ0=0;MQRankSum=0.571;QD=11.82;ReadPosRankSum=0.538;VQSLOD=5.7842;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,89:183:99:2193,0,2269 2 99226173 99226173 T A exonic UNC50 startloss UNC50:NM_001330354:exon2:c.T2A:p.F2_M18del 0.29 0.24 0.3 0.31 0.27 0.32 0.2688 0.2546 0.3097 0.3108 0.2167 0.2587 0.2849 0.2878 0.26 0.26 0.26 0.27 . rs1062847 COSM4001806 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.0 0.912 D . . . . . . . . . 0.000 0.588 P . . . . . . -0.01 0.072 N 0.094 0.094 -1.001 0.295 T 0.000 0.000 T . . . 0.849 0.175 9.765 0.708 0.091 0.003 0.016 N c -0.990 -1.206 1.000 0.747 0.543 0.218 0 -3.61 0.042 -1.750 0.019 -0.250 0.090 0.000 0.063 0.001 0.043 1.167 0.017 . ENSG00000040933.11|ENSG00000040933.11|ENSG00000115446.7|ENSG00000040933.11|ENSG00000115446.7 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Liver|Nerve_Tibial|Testis 0.2681 0.2531 0.2992 0.3507 0.3036 0.2150 0.2537 0.2844 0.2826 0.2552 0.2587 0.2967 0.3079 0.3154 0.2096 0.2544 0.2480 het 4189.26 250 2 99226173 . T A 4189.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.706;DP=250;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8667;MQ=59.42;MQ0=0;MQRankSum=0.971;QD=16.76;ReadPosRankSum=-1.264;VQSLOD=5.8746;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,129:250:99:3541,0,3354 2 99778985 99778985 T C exonic LIPT1 synonymous SNV LIPT1:NM_145199:exon2:c.T565C:p.L189L,LIPT1:NM_001204830:exon3:c.T565C:p.L189L,LIPT1:NM_015929:exon3:c.T565C:p.L189L,LIPT1:NM_145197:exon4:c.T565C:p.L189L,LIPT1:NM_145198:exon4:c.T565C:p.L189L 0.59 0.33 0.62 0.87 0.63 0.61 0.6127 0.3901 0.5214 0.8751 0.5681 0.6294 0.6272 0.6286 0.56 0.41 0.64 0.56 0.61 rs2632277 . . Benign not_specified RCV000419186.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6149 0.3873 0.5411 0.6299 0.8742 0.5661 0.6332 0.6247 0.6252 0.5712 0.3939 0.5931 0.6192 0.8843 0.5707 0.6371 0.5917 hom 5307.11 158 2 99778985 . T C 5307.11 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=33.59;VQSLOD=9.0872;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:5307,409,0 2 99779131 99779131 T C exonic LIPT1 synonymous SNV LIPT1:NM_145199:exon2:c.T711C:p.A237A,LIPT1:NM_001204830:exon3:c.T711C:p.A237A,LIPT1:NM_015929:exon3:c.T711C:p.A237A,LIPT1:NM_145197:exon4:c.T711C:p.A237A,LIPT1:NM_145198:exon4:c.T711C:p.A237A 0.5 0.21 0.52 0.66 0.61 0.59 0.5611 0.2577 0.4050 0.6649 0.5471 0.6131 0.5654 0.6016 0.5 0.28 0.62 0.47 0.58 rs2516835 COSM5008345 1(large_intestine) Benign not_specified RCV000429922.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5626 0.2539 0.4264 0.6105 0.6731 0.5454 0.6176 0.5809 0.5974 0.5108 0.2667 0.4856 0.5867 0.6973 0.5470 0.6211 0.5561 hom 2362.80 70 2 99779131 . T C 2362.80 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;QD=33.75;VQSLOD=10.0006;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2396,187,0 2 99804642 99804642 T C exonic MRPL30 synonymous SNV MRPL30:NM_145212:exon3:c.T54C:p.T18T 0.83 0.69 0.93 0.95 0.88 0.75 0.8641 0.7392 0.9497 0.9700 0.7943 0.8774 0.8629 0.8001 0.83 0.75 0.88 0.79 0.51 rs10865030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8672 0.7255 0.9478 0.9350 0.9703 0.7952 0.8754 0.8788 0.7974 0.8254 0.7272 0.9545 0.9437 0.9765 0.7930 0.8642 0.8214 hom 938.51 37 2 99804642 . T C 938.51 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=25.37;VQSLOD=7.6314;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:75.22:972,75,0 2 99812070 99812070 G A exonic MRPL30 nonsynonymous SNV MRPL30:NM_145212:exon6:c.G388A:p.A130T 0.64 0.49 0.65 0.87 0.65 0.62 0.6366 0.5266 0.5349 0.8820 0.5767 0.6462 0.6432 0.6335 0.61 0.54 0.65 0.63 0.58 rs1044575 COSM1130704 3(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.445 N 1.000 0.090 P -0.385 0.030 N 1.15 0.382 T 1.64 0.006 N 0.006 0.001 -1.002 0.293 T 0.000 0.000 T . . . 0.356 0.128 6.224 0.283 0.014 0.006 0.028 N c -1.482 -1.405 0.000 0.058 0.707 0.730 0 -2.19 0.066 -0.076 0.113 0.166 0.246 0.002 0.151 0.924 0.398 6.003 0.186 . ENSG00000158411.6|ENSG00000158411.6|ENSG00000135951.10|ENSG00000158411.6|ENSG00000158411.6|ENSG00000158411.6|ENSG00000135951.10|ENSG00000158411.6|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000158411.6|ENSG00000135951.10|ENSG00000135951.10|ENSG00000158411.6|ENSG00000158411.6|ENSG00000158411.6|ENSG00000158411.6|ENSG00000144182.12|ENSG00000135951.10|ENSG00000158411.6|ENSG00000158411.6|ENSG00000135951.10|ENSG00000135945.5|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000144214.5|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000144182.12|ENSG00000135951.10|ENSG00000135945.5|ENSG00000135951.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.6357 0.5243 0.5526 0.6610 0.8806 0.5751 0.6487 0.6447 0.6292 0.6217 0.5323 0.6169 0.6523 0.8929 0.5808 0.6546 0.6071 hom 7955.82 250 2 99812070 . G A 7955.82 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8606;MQ=53.89;MQ0=0;QD=31.82;VQSLOD=3.4626;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7954,668,0 2 100218080 100218080 G A exonic AFF3 synonymous SNV AFF3:NM_001025108:exon13:c.C1263T:p.A421A,AFF3:NM_002285:exon13:c.C1188T:p.A396A 0.24 0.013 0.23 0.4 0.29 0.33 0.3073 0.0617 0.2904 0.4250 0.2863 0.3037 0.3491 0.3936 0.2 0.056 0.27 0.2 0.23 rs4851214 COSM1752740 1(urinary_tract);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2710 0.0463 0.2327 0.2553 0.3869 0.2352 0.2768 0.2714 0.3525 0.2102 0.0550 0.2440 0.2252 0.3587 0.2291 0.2758 0.2429 het 238.67 24 2 100218080 . G A 238.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.753;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.174;QD=9.94;ReadPosRankSum=-0.869;VQSLOD=10.8354;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,11:24:99:269,0,322 2 100343557 100343557 C T exonic AFF3 nonsynonymous SNV AFF3:NM_001025108:exon10:c.G1148A:p.S383N,AFF3:NM_002285:exon10:c.G1073A:p.S358N 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 0.9999 . . . 1. 0.9 rs4851223 COSM4591070 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1.0000 1 1 1 1 1 1 1 1 hom 2669.25 91 2 100343557 . C T 2669.25 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6103;MQ=59.80;MQ0=0;QD=29.33;VQSLOD=8.3766;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2702,208,0 2 101086966 101086966 C T exonic NMS nonsynonymous SNV NMS:NM_001011717:exon1:c.C16T:p.P6S 0.27 0.28 0.19 0.35 0.2 0.3 0.2359 0.2685 0.1962 0.3545 0.2231 0.2117 0.2081 0.2856 0.24 0.27 0.22 0.28 0.17 rs13411940 COSM148914 1(stomach);1(pancreas);2(large_intestine) . . . . . . . . . . . 0.029 0.457 D 0.363 0.322 B 0.096 0.288 B 0.006 0.321 N 1 0.090 P 2.005 0.547 M 0.73 0.507 T -4.08 0.747 D 0.082 0.075 -1.004 0.287 T 0.000 0.000 T . . . 1.563 0.250 13.65 0.963 0.286 0.068 0.127 N c -0.622 -0.726 0.000 0.038 0.447 0.083 0 2.53 0.295 0.008 0.130 0.935 0.490 0.001 0.137 0.005 0.090 5.906 0.181 . ENSG00000115539.9 Muscle_Skeletal 0.2340 0.2663 0.1964 0.1704 0.3568 0.2223 0.2177 0.2067 0.2827 0.2382 0.2692 0.1862 0.1987 0.3541 0.2381 0.2126 0.2214 hom 6621 228 2 101086966 . C T 6621 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.443;DP=228;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.5534;MQ=59.61;MQ0=0;MQRankSum=0.228;QD=29.04;ReadPosRankSum=0.349;VQSLOD=3.9257;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,227:228:99:6581,466,0 2 101096960 101096960 C T exonic NMS synonymous SNV NMS:NM_001011717:exon7:c.C339T:p.G113G 0.8 0.92 0.69 1. 0.5 0.84 0.6384 0.8634 0.7688 0.9978 0.5744 0.4962 0.6015 0.8190 0.61 0.85 0.49 0.76 0.44 rs1519654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6356 0.8683 0.7485 0.4676 0.9984 0.5734 0.4931 0.5668 0.8202 0.6418 0.8533 0.7172 0.4735 0.9994 0.5765 0.4981 0.5774 hom 3671.06 129 2 101096960 . C T 3671.06 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5294;MQ=59.28;MQ0=0;QD=28.46;VQSLOD=7.4738;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3670,295,0 2 101186088 101186088 C T exonic PDCL3 synonymous SNV PDCL3:NM_024065:exon4:c.C273T:p.F91F 0.65 0.63 0.42 0.98 0.44 0.73 0.5129 0.6132 0.3820 0.9747 0.4833 0.4164 0.5066 0.6989 0.48 0.61 0.42 0.64 0.34 rs1052117 COSM3749587 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5120 0.6158 0.4074 0.4409 0.9766 0.4826 0.4164 0.4604 0.7034 0.5024 0.6040 0.3777 0.4437 0.9784 0.4914 0.4059 0.4443 hom 3590.28 109 2 101186088 . C T 3590.28 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5398;MQ=54.76;MQ0=0;QD=32.94;VQSLOD=3.4905;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3590,286,0 2 101591304 101591304 A G exonic NPAS2 nonsynonymous SNV NPAS2:NM_002518:exon13:c.A1180G:p.T394A 0.8 0.93 0.71 0.86 0.67 0.75 0.7072 0.9023 0.7038 0.8450 0.7185 0.6567 0.7037 0.7145 0.75 0.89 0.67 0.83 0.7 rs2305160 COSM4132911;COSM4132910 1(bone);1(thyroid) . . . . . . . . . . . 0.853 0.027 T 0.001 0.067 B 0.003 0.080 B 0.163 0.176 N 1 0.090 P 0.075 0.083 N 3.53 0.049 T -0.34 0.127 N 0.045 0.025 -1.083 0.068 T 0.000 0.000 T . . . -2.189 0.006 0.001 0.414 0.030 0.006 0.025 N c -1.698 -1.626 0.797 0.241 0.707 0.730 0 -1.04 0.095 0.590 0.235 -0.793 0.032 0.000 0.063 0.029 0.146 6.399 0.207 . . . 0.7065 0.9037 0.7081 0.6695 0.8462 0.7214 0.6556 0.7048 0.7145 0.7386 0.8961 0.7093 0.6623 0.8424 0.7225 0.6463 0.6782 het 1143.99 99 2 101591304 . A G 1143.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.167;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6281;MQ=59.01;MQ0=0;MQRankSum=0.473;QD=11.56;ReadPosRankSum=0.170;VQSLOD=6.7148;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,47:99:99:1174,0,1397 2 101609827 101609827 C T exonic NPAS2 synonymous SNV NPAS2:NM_002518:exon20:c.C2130T:p.T710T 0.25 0.083 0.3 0.22 0.3 0.43 0.2990 0.1121 0.2760 0.2090 0.2660 0.3205 0.3009 0.4149 0.25 0.12 0.31 0.21 0.27 rs9223 COSM3757530;COSM3757531 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.053 0.388 T . . . . . . . . . 1.000 0.090 P . . . 1.52 0.307 T -0.4 0.138 N . . -0.966 0.380 T 0.000 0.000 T . . . 2.011 0.303 16.28 0.928 0.218 0.022 0.063 N c -0.979 -1.174 1.000 0.747 0.707 0.730 0 -8.78 0.007 -1.186 0.032 -0.966 0.023 0.001 0.137 0.145 0.203 1.636 0.026 . . . 0.2991 0.1134 0.2736 0.4351 0.2111 0.2656 0.3155 0.3130 0.3897 0.2483 0.1186 0.3022 0.4636 0.1985 0.2549 0.3191 0.2653 het 1911.51 145 2 101609827 . C T 1911.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.937;DP=145;Dels=0.00;FS=10.505;HRun=0;HaplotypeScore=1.6120;MQ=59.16;MQ0=0;MQRankSum=0.770;QD=13.18;ReadPosRankSum=0.849;VQSLOD=4.4893;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,75:145:99:1942,0,1633 2 101624471 101624471 T C exonic TBC1D8 nonsynonymous SNV TBC1D8:NM_001102426:exon20:c.A3235G:p.R1079G,TBC1D8:NM_001330348:exon20:c.A3280G:p.R1094G 0.51 0.47 0.57 0.29 0.68 0.59 0.6101 0.4972 0.5632 0.3052 0.6073 0.6795 0.6069 0.5897 0.62 0.52 0.67 0.53 . rs746924 COSM3757533;COSM3757532 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.855 0.033 T 0.0 0.026 B 0.0 0.013 B 0.001 0.405 N 0.000 0.810 P -1.185 0.009 N 4.09 0.030 T 1.48 0.008 N 0.012 0.077 -1.113 0.028 T 0.000 0.000 T . . . 1.167 0.207 11.57 0.651 0.075 0.438 0.269 N c -0.780 -0.572 1.000 0.747 0.646 0.442 0 5.14 0.699 1.386 0.338 -0.020 0.129 0.919 0.317 0.747 0.321 13.542 0.610 . . . 0.6082 0.4966 0.5576 0.7420 0.3069 0.5976 0.6800 0.6538 0.5839 0.5990 0.5110 0.5841 0.7517 0.2942 0.5992 0.6804 0.6051 het 835.21 65 2 101624471 . T C 835.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.702;DP=65;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;MQRankSum=-0.833;QD=12.85;ReadPosRankSum=-0.243;VQSLOD=6.7659;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,32:65:99:865,0,884 2 101638888 101638888 A G exonic TBC1D8 synonymous SNV TBC1D8:NM_001102426:exon16:c.T2571C:p.D857D,TBC1D8:NM_001330348:exon16:c.T2616C:p.D872D 0.53 0.52 0.55 0.29 0.68 0.59 0.6097 0.5570 0.5056 0.3063 0.6082 0.6792 0.6050 0.5907 0.64 0.58 0.67 0.53 . rs3739014 COSM4132914;COSM4132915 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6031 0.5526 0.5006 0.7412 0.3064 0.5972 0.6788 0.6481 0.5830 0.6127 0.5655 0.5443 0.7517 0.2947 0.5987 0.6792 0.6074 het 132.94 35 2 101638888 . A G 132.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.923;DP=35;Dels=0.00;FS=1.496;HRun=0;HaplotypeScore=0.9995;MQ=59.34;MQ0=0;MQRankSum=0.295;QD=3.80;ReadPosRankSum=-0.530;VQSLOD=4.2493;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,8:35:99:163,0,780 2 101644855 101644855 G A exonic TBC1D8 synonymous SNV TBC1D8:NM_001102426:exon13:c.C2217T:p.P739P,TBC1D8:NM_001330348:exon13:c.C2262T:p.P754P 0.22 0.036 0.29 0.17 0.27 0.4 0.2778 0.0676 0.2580 0.1580 0.2588 0.3032 0.2742 0.3999 0.22 0.076 0.29 0.16 . rs11683877 COSM148916;COSM4001100 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2772 0.0667 0.2566 0.4263 0.1609 0.2563 0.2984 0.2887 0.3659 0.2239 0.0744 0.2890 0.4470 0.1477 0.2484 0.3038 0.2469 het 1627.08 127 2 101644855 . G A 1627.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.696;DP=127;Dels=0.00;FS=5.255;HRun=0;HaplotypeScore=2.9615;MQ=58.41;MQ0=0;MQRankSum=1.125;QD=12.81;ReadPosRankSum=-0.608;VQSLOD=5.2000;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,64:127:99:1657,0,1708 2 101656726 101656726 T C exonic TBC1D8 nonsynonymous SNV TBC1D8:NM_001102426:exon6:c.A949G:p.T317A,TBC1D8:NM_001330348:exon6:c.A994G:p.T332A 0.49 0.35 0.56 0.31 0.68 0.59 0.5997 0.4044 0.5526 0.3201 0.5960 0.6745 0.6027 0.5929 0.59 0.43 0.66 0.49 . rs2289953 COSM4132918;COSM4132919 1(thyroid) . . . . . . . . . . . 0.508 0.075 T 0.0 0.026 B 0.0 0.013 B 0.912 0.085 N 1 0.090 P -1.78 0.003 N -2.12 0.863 D 0.87 0.017 N 0.066 0.075 -0.907 0.472 T 0.000 0.000 T . . . -0.343 0.065 0.530 0.746 0.104 0.016 0.051 N c -1.227 -1.073 1.000 0.747 0.706 0.609 0 4.0 0.455 1.229 0.320 0.067 0.174 0.000 0.063 0.043 0.159 11.385 0.488 GRAM domain . . 0.5991 0.4033 0.5489 0.7489 0.3229 0.5838 0.6744 0.6472 0.5876 0.5665 0.4173 0.5731 0.7633 0.3053 0.5853 0.6711 0.5896 het 1561.34 144 2 101656726 . T C 1561.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.587;DP=144;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9756;MQ=59.74;MQ0=0;MQRankSum=-1.582;QD=10.84;ReadPosRankSum=0.459;VQSLOD=5.1450;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,66:144:99:1591,0,2294 2 101898412 101898412 G C exonic RNF149 nonsynonymous SNV RNF149:NM_173647:exon6:c.C1068G:p.D356E 0.85 0.63 0.91 1. 0.87 0.91 0.8710 0.6715 0.9393 0.9988 0.8930 0.8675 0.9031 0.8854 0.81 0.69 0.87 0.81 0.86 rs13151 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.384 0.044 N 1 0.090 P 0 0.065 N 3.16 0.077 T 0.51 0.029 N 0.013 0.003 -1.053 0.135 T 0.000 0.000 T . . . -1.305 0.022 0.004 0.196 0.007 0.017 0.054 N c -1.619 -1.601 0.148 0.174 0.707 0.730 0 -1.9 0.072 -1.246 0.030 -0.880 0.027 0.000 0.063 0.000 0.016 3.189 0.062 . . . 0.8780 0.6729 0.9339 0.8756 0.9993 0.8973 0.8642 0.8801 0.8877 0.8265 0.6820 0.8938 0.8841 0.9994 0.8948 0.8668 0.8859 hom 6471.77 197 2 101898412 . G C 6471.77 Mask AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=59.44;MQ0=0;QD=32.85;VQSLOD=9.5094;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:6471,506,0 2 102968007 102968007 G A exonic IL1RL1 nonsynonymous SNV IL1RL1:NM_016232:exon11:c.G1297A:p.A433T 0.39 0.75 0.29 0.13 0.4 0.21 0.3514 0.7067 0.2088 0.1216 0.4086 0.3856 0.3521 0.1822 0.5 0.7 0.39 0.53 0.38 rs4988956 COSM3757548 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 0.051 0.393 T 0.693 0.397 P 0.201 0.352 B 0.030 0.254 N 1.000 0.090 P 2.07 0.570 M 3.15 0.078 T -1.66 0.397 N 0.024 0.007 -1.097 0.044 T 0.000 0.000 T . . . 1.480 0.240 13.21 0.984 0.406 0.152 0.186 N c -0.382 -0.483 1.000 0.747 0.503 0.197 0 2.35 0.280 1.771 0.379 0.014 0.141 0.102 0.226 0.081 0.181 6.596 0.217 Toll/interleukin-1 receptor homology (TIR) domain ENSG00000115604.6|ENSG00000234389.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000236785.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115607.5|ENSG00000236525.1|ENSG00000234389.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3408 0.7111 0.2155 0.4610 0.1149 0.4159 0.3800 0.3708 0.1794 0.4516 0.6926 0.2243 0.4933 0.1108 0.4246 0.3725 0.3617 het 1345.32 88 2 102968007 . G A 1345.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.883;DP=88;Dels=0.00;FS=3.157;HRun=0;HaplotypeScore=1.7480;MQ=59.26;MQ0=0;MQRankSum=0.064;QD=15.29;ReadPosRankSum=0.253;VQSLOD=6.5564;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,54:88:99:1375,0,940 2 102968075 102968075 T C exonic IL1RL1 synonymous SNV IL1RL1:NM_016232:exon11:c.T1365C:p.N455N 0.39 0.75 0.29 0.12 0.4 0.21 0.3499 0.7067 0.2090 0.1230 0.4087 0.3850 0.3535 0.1770 0.5 0.7 0.39 0.53 0.38 rs4988957 COSM3757549 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3410 0.7113 0.2156 0.4610 0.1157 0.4160 0.3802 0.3710 0.1794 0.4520 0.6928 0.2230 0.4967 0.1106 0.4237 0.3732 0.3617 het 1758.07 119 2 102968075 . T C 1758.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.558;DP=119;Dels=0.00;FS=4.470;HRun=0;HaplotypeScore=0.0000;MQ=58.59;MQ0=0;MQRankSum=1.146;QD=14.77;ReadPosRankSum=-0.407;VQSLOD=5.3706;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1788,0,1522 2 102968211 102968211 C A exonic IL1RL1 nonsynonymous SNV IL1RL1:NM_016232:exon11:c.C1501A:p.Q501K 0.38 0.74 0.29 0.12 0.4 0.2 0.3483 0.7056 0.2076 0.1223 0.4052 0.3832 0.3529 0.1767 0.035 0.069 0.018 . 0.39 rs10192036 COSM3757550 1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.655 0.105 N 1.000 0.210 P -0.68 0.020 N 3.3 0.064 T 1.33 0.009 N 0.015 0.002 -0.909 0.470 T 0.000 0.000 T . . . -2.652 0.002 0.001 0.667 0.079 0.012 0.041 N c -1.900 -1.889 1.000 0.747 0.520 0.209 0 -4.59 0.031 -0.324 0.080 -1.422 0.011 0.000 0.063 0.001 0.043 20.751 0.997 Toll/interleukin-1 receptor homology (TIR) domain ENSG00000115604.6|ENSG00000234389.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000236785.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115607.5|ENSG00000236525.1|ENSG00000234389.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3406 0.7112 0.2156 0.4607 0.1153 0.4157 0.3796 0.3705 0.1795 0.4503 0.6911 0.2225 0.4966 0.1092 0.4235 0.3715 0.3591 het 1085.01 71 2 102968211 . C A 1085.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.018;DP=71;Dels=0.00;FS=7.323;HRun=1;HaplotypeScore=0.5784;MQ=59.35;MQ0=0;MQRankSum=0.466;QD=15.28;ReadPosRankSum=-0.132;VQSLOD=5.1372;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,36:71:99:1115,0,1009 2 102968212 102968212 A G exonic IL1RL1 nonsynonymous SNV IL1RL1:NM_016232:exon11:c.A1502G:p.Q501R 0.38 0.74 0.29 0.12 0.4 0.2 0.3483 0.7056 0.2076 0.1223 0.4048 0.3833 0.3529 0.1768 0.052 0.1 0.028 . 0.39 rs10204137 COSM3757551 1(liver);1(large_intestine) . . . . . . . . . . . 0.656 0.047 T 0.0 0.026 B 0.002 0.063 B 0.655 0.105 N 1.000 0.186 P 0.43 0.127 N 3.21 0.071 T 0.99 0.014 N 0.008 0.000 -0.989 0.330 T 0.000 0.000 T . . . -2.356 0.004 0.001 0.440 0.033 0.026 0.071 N c -1.615 -1.611 1.000 0.517 0.520 0.209 0 -0.566 0.111 0.111 0.152 -1.323 0.013 0.008 0.178 0.002 0.062 10.317 0.427 Toll/interleukin-1 receptor homology (TIR) domain ENSG00000115604.6|ENSG00000234389.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000236785.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115607.5|ENSG00000236525.1|ENSG00000234389.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3406 0.7112 0.2156 0.4607 0.1152 0.4156 0.3797 0.3705 0.1795 0.4503 0.6910 0.2236 0.4966 0.1093 0.4235 0.3715 0.3591 het 1009.61 70 2 102968212 . A G 1009.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.458;DP=70;Dels=0.00;FS=5.451;HRun=1;HaplotypeScore=0.5784;MQ=59.34;MQ0=0;MQRankSum=0.223;QD=14.42;ReadPosRankSum=0.117;VQSLOD=6.0250;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,35:70:99:1040,0,1025 2 102968285 102968285 T C exonic IL1RL1 synonymous SNV IL1RL1:NM_016232:exon11:c.T1575C:p.S525S 0.39 0.75 0.29 0.12 0.4 0.21 0.3497 0.7067 0.2089 0.1224 0.4088 0.3850 0.3543 0.1768 0.5 0.7 0.39 0.53 0.36 rs4988958 COSM3757552 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3408 0.7111 0.2155 0.4608 0.1151 0.4160 0.3799 0.3709 0.1794 0.4515 0.6922 0.2230 0.4967 0.1108 0.4238 0.3727 0.3586 het 541.61 38 2 102968285 . T C 541.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.833;DP=38;Dels=0.00;FS=1.210;HRun=1;HaplotypeScore=1.8947;MQ=60.00;MQ0=0;MQRankSum=-2.178;QD=14.25;ReadPosRankSum=1.593;VQSLOD=4.9430;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,20:38:99:572,0,539 2 102968356 102968356 C T exonic IL1RL1 nonsynonymous SNV IL1RL1:NM_016232:exon11:c.C1646T:p.T549I 0.39 0.75 0.29 0.12 0.4 0.21 0.3525 0.7066 0.2085 0.1198 0.4074 0.3860 0.3589 0.1924 0.49 0.7 0.39 0.53 0.38 rs10192157 COSM3757553 2(haematopoietic_and_lymphoid_tissue);1(liver);2(large_intestine) . . . . . . . . . . . 0.128 0.269 T 0.063 0.219 B 0.023 0.188 B 0.095 0.025 N 1 0.090 P 0.14 0.088 N 0.24 0.596 T -0.25 0.110 N 0.04 0.020 -0.937 0.432 T 0.000 0.000 T . . . 0.647 0.156 8.475 0.972 0.323 0.009 0.036 N c -1.073 -1.075 1.000 0.517 0.539 0.216 0 -0.89 0.100 -1.724 0.020 0.767 0.311 0.000 0.063 0.014 0.122 3.239 0.063 . ENSG00000115604.6|ENSG00000234389.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000236785.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115607.5|ENSG00000236525.1|ENSG00000234389.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3408 0.7112 0.2160 0.4624 0.1145 0.4154 0.3801 0.3712 0.1794 0.4498 0.6905 0.2254 0.5 0.1106 0.4235 0.3707 0.3560 het 1180.77 88 2 102968356 . C T 1180.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.886;DP=88;Dels=0.00;FS=1.819;HRun=1;HaplotypeScore=1.6553;MQ=58.94;MQ0=0;MQRankSum=-0.238;QD=13.42;ReadPosRankSum=-1.014;VQSLOD=6.4312;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,44:88:99:1211,0,1214 2 102968362 102968362 T C exonic IL1RL1 nonsynonymous SNV IL1RL1:NM_016232:exon11:c.T1652C:p.L551S 0.39 0.75 0.29 0.12 0.4 0.21 0.3530 0.7070 0.2084 0.1201 0.4072 0.3861 0.3568 0.1941 0.49 0.7 0.39 0.53 0.38 rs10206753 COSM3766473 3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.134 0.263 T 0.352 0.319 B 0.02 0.179 B 0.000 0.002 N 1.000 0.182 P 1 0.253 L -0.02 0.629 T -1.42 0.350 N 0.068 0.055 -0.910 0.469 T 0.000 0.000 T . . . 1.812 0.279 15.06 0.969 0.309 0.070 0.129 N c -0.757 -0.821 1.000 0.458 0.539 0.216 0 1.12 0.196 0.346 0.196 0.722 0.304 0.000 0.063 0.012 0.117 3.956 0.088 . ENSG00000115604.6|ENSG00000234389.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000236785.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115607.5|ENSG00000236525.1|ENSG00000234389.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3407 0.7113 0.2158 0.4605 0.1145 0.4157 0.3801 0.3718 0.1792 0.4497 0.6905 0.2243 0.4967 0.1105 0.4234 0.3707 0.3560 het 1134.10 92 2 102968362 . T C 1134.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.006;DP=92;Dels=0.00;FS=4.059;HRun=0;HaplotypeScore=3.8577;MQ=58.58;MQ0=0;MQRankSum=0.656;QD=12.33;ReadPosRankSum=0.131;VQSLOD=5.5555;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,43:92:99:1164,0,1303 2 103001402 103001402 C T exonic IL18R1 synonymous SNV IL18R1:NM_001282399:exon7:c.C288T:p.F96F,IL18R1:NM_003855:exon7:c.C753T:p.F251F 0.26 0.14 0.19 0.42 0.25 0.3 0.2632 0.1555 0.1711 0.4028 0.2887 0.2695 0.2324 0.2881 0.23 0.16 0.27 0.22 0.31 rs1035130 COSM4001107 1(bone);3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2580 0.1518 0.1693 0.1555 0.4041 0.2742 0.2762 0.2304 0.2854 0.2560 0.1687 0.1947 0.1633 0.4303 0.2772 0.2854 0.3021 het 1312.65 102 2 103001402 . C T 1312.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.996;DP=102;Dels=0.00;FS=0.741;HRun=2;HaplotypeScore=0.7340;MQ=59.55;MQ0=0;MQRankSum=0.388;QD=12.87;ReadPosRankSum=-0.074;VQSLOD=6.8575;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,49:102:99:1343,0,1351 2 103095404 103095404 G A exonic SLC9A4 synonymous SNV SLC9A4:NM_001011552:exon2:c.G363A:p.S121S 0.34 0.28 0.33 0.23 0.52 0.35 0.4195 0.2920 0.2774 0.2391 0.6122 0.4833 0.4570 0.3563 0.42 0.3 0.48 0.41 0.56 rs11692304 COSM3757554 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4194 0.2832 0.2905 0.4581 0.2347 0.6050 0.4808 0.4501 0.3561 0.4398 0.3008 0.3158 0.4934 0.2512 0.6135 0.5035 0.4847 het 1770.31 140 2 103095404 . G A 1770.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.570;DP=140;Dels=0.00;FS=13.144;HRun=0;HaplotypeScore=3.7929;MQ=59.34;MQ0=0;MQRankSum=0.196;QD=12.65;ReadPosRankSum=0.222;VQSLOD=4.4047;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,68:140:99:1800,0,1677 2 103149100 103149100 G A exonic SLC9A4 nonsynonymous SNV SLC9A4:NM_001011552:exon12:c.G2350A:p.G784S 0.62 0.67 0.68 0.53 0.68 0.56 0.6287 0.6353 0.7445 0.5003 0.7240 0.6311 0.6264 0.5631 0.64 0.64 0.64 0.71 0.73 rs1014286 COSM3766476 2(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . Serum protein levels (sST2) . -0.11 23999434 rs1014286 3E-33 0.945 0.022 T 0.0 0.026 B 0.001 0.040 B 0.903 0.074 N 1 0.090 P -0.49 0.026 N 1.07 0.396 T 0.49 0.030 N 0.028 0.009 -0.977 0.358 T 0.000 0.000 T . . . -0.703 0.045 0.071 0.457 0.036 0.008 0.032 N c -1.880 -1.966 0.979 0.299 0.487 0.133 0 -11.0 0.001 -0.493 0.065 -0.618 0.043 0.000 0.063 0.003 0.074 9.557 0.383 . ENSG00000115602.12|ENSG00000115607.5 Lung|Whole_Blood 0.6348 0.6272 0.7355 0.6054 0.4996 0.7135 0.6325 0.6468 0.5631 0.6526 0.6315 0.6998 0.6093 0.5025 0.7203 0.6610 0.6895 het 979.13 79 2 103149100 . G A 979.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.719;DP=79;Dels=0.00;FS=9.728;HRun=0;HaplotypeScore=2.4947;MQ=59.71;MQ0=0;MQRankSum=0.321;QD=12.39;ReadPosRankSum=-0.933;VQSLOD=4.6822;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,35:79:99:1009,0,1188 2 103317676 103317676 A G exonic SLC9A2 synonymous SNV SLC9A2:NM_003048:exon8:c.A1734G:p.T578T 0.0062 . 0.013 . 0.021 0.001 0.0143 0.0035 0.0090 0.0001 0.0102 0.0216 0.0211 0.0043 0.016 0.0036 0.023 . 0.0082 rs17776702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0139 0.0034 0.0078 0.0078 6.101e-05 0.0095 0.0228 0.0139 0.0048 0.0153 0.0052 0.0095 0.0099 0 0.0092 0.0253 0.0051 het 1085.41 94 2 103317676 . A G 1085.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.751;DP=94;Dels=0.00;FS=5.118;HRun=0;HaplotypeScore=1.7866;MQ=58.80;MQ0=0;MQRankSum=0.594;QD=11.55;ReadPosRankSum=1.078;VQSLOD=5.6356;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,48:94:99:1115,0,1125 2 103431404 103431404 T C exonic TMEM182 nonsynonymous SNV TMEM182:NM_001321346:exon4:c.T241C:p.W81R,TMEM182:NM_001321345:exon5:c.T379C:p.W127R,TMEM182:NM_144632:exon5:c.T667C:p.W223R,TMEM182:NM_001321344:exon6:c.T538C:p.W180R,TMEM182:NM_001321343:exon7:c.T538C:p.W180R 0.99 1. 0.99 1. 0.97 0.99 0.9765 0.9945 0.9883 0.9999 0.9711 0.9671 0.9780 0.9846 0.97 0.99 0.97 0.99 0.95 rs887987 COSM5000801 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -2.05 0.002 N 1.39 0.340 T 5.97 0.000 N 0.074 0.072 -0.971 0.370 T 0.000 0.000 T . . . 0.628 0.154 8.348 0.708 0.091 0.008 0.031 N c -1.111 -0.858 0.170 0.177 0.693 0.558 0 2.93 0.329 1.103 0.305 0.069 0.176 0.090 0.224 0.967 0.454 8.282 0.309 . . . 0.9775 0.9953 0.9897 0.9771 0.9998 0.9725 0.9671 0.9757 0.9843 0.9737 0.9960 0.9916 0.9801 0.9994 0.9760 0.9566 0.9715 hom 1265.67 48 2 103431404 . T C 1265.67 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7825;MQ=58.73;MQ0=0;QD=26.37;VQSLOD=7.1964;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1299,105,0 2 105665808 105665808 C T exonic MRPS9 synonymous SNV MRPS9:NM_182640:exon2:c.C315T:p.D105D 0.19 0.22 0.29 0.11 0.22 0.13 0.2024 0.2260 0.2209 0.1062 0.1660 0.2288 0.1858 0.1349 0.23 0.22 0.24 0.2 0.16 rs11538197 COSM4001108 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2044 0.2253 0.2290 0.2357 0.1111 0.1693 0.2299 0.2238 0.1374 0.2091 0.2204 0.2261 0.2450 0.1110 0.1499 0.2262 0.1929 hom 1433.68 49 2 105665808 . C T 1433.68 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;QD=29.26;VQSLOD=8.5393;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1467,114,0 2 105705507 105705507 C T exonic MRPS9 synonymous SNV MRPS9:NM_182640:exon6:c.C555T:p.L185L 0.17 0.13 0.28 0.11 0.22 0.13 0.1942 0.1436 0.2157 0.1067 0.1657 0.2273 0.1829 0.1347 0.21 0.14 0.24 0.17 0.13 rs11538198 COSM4001109 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1960 0.1420 0.2187 0.2331 0.1095 0.1684 0.2278 0.2200 0.1359 0.1877 0.1455 0.2184 0.2450 0.1114 0.1505 0.2263 0.1876 hom 1380.82 45 2 105705507 . C T 1380.82 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=58.12;MQ0=0;QD=30.68;VQSLOD=8.1229;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1414,114,0 2 105709023 105709023 T C exonic MRPS9 synonymous SNV MRPS9:NM_182640:exon8:c.T816C:p.S272S 0.98 1. 0.97 1. 0.95 0.99 0.9707 0.9920 0.9820 0.9999 0.9525 0.9594 0.9592 0.9874 0.97 0.99 0.96 0.98 0.93 rs6543282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9697 0.9933 0.9822 0.9680 1 0.9526 0.9587 0.9679 0.9879 0.9676 0.9912 0.9785 0.9669 1 0.9522 0.9533 0.9684 hom 2085.66 77 2 105709023 . T C 2085.66 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=59.70;MQ0=0;QD=27.09;VQSLOD=6.8575;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2119,174,0 2 105713697 105713697 A G exonic MRPS9 synonymous SNV MRPS9:NM_182640:exon10:c.A1014G:p.S338S 0.17 0.13 0.28 0.11 0.22 0.13 0.1943 0.1426 0.2163 0.1063 0.1652 0.2274 0.1821 0.1360 0.21 0.15 0.24 0.17 0.2 rs15567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1975 0.1424 0.2228 0.235 0.1098 0.1689 0.2288 0.2221 0.1374 0.1872 0.1451 0.2165 0.2450 0.1094 0.1506 0.2257 0.1904 hom 3791.65 118 2 105713697 . A G 3791.65 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9283;MQ=59.49;MQ0=0;QD=32.13;VQSLOD=8.8835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3791,307,0 2 105885961 105885961 T C exonic TGFBRAP1 nonsynonymous SNV TGFBRAP1:NM_001142621:exon11:c.A2174G:p.H725R,TGFBRAP1:NM_001328646:exon11:c.A2174G:p.H725R,TGFBRAP1:NM_004257:exon11:c.A2174G:p.H725R 0.5 0.47 0.64 0.28 0.66 0.52 0.5812 0.4807 0.5858 0.2778 0.6195 0.6418 0.5595 0.5420 0.59 0.49 0.65 0.49 0.46 rs2241797 . . . . . . . . . . . . . 0.659 0.047 T 0.0 0.026 B 0.0 0.063 B 0.074 0.023 N 1 0.090 P -0.375 0.030 N 1.03 0.405 T -0.11 0.087 N 0.012 0.002 -0.970 0.373 T 0.000 0.000 T . . . -2.684 0.002 0.001 0.228 0.009 0.070 0.129 N c -1.775 -1.788 0.991 0.322 0.719 0.830 0 -6.99 0.014 -0.173 0.098 -0.918 0.026 0.000 0.063 0.004 0.083 11.564 0.499 . . . 0.5826 0.4710 0.6051 0.5718 0.2747 0.6067 0.6463 0.5922 0.5433 0.5709 0.4824 0.6160 0.5894 0.2763 0.6173 0.6392 0.5888 het 486.55 33 2 105885961 . T C 486.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.782;DP=33;Dels=0.00;FS=3.412;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.534;QD=14.74;ReadPosRankSum=-0.092;VQSLOD=6.4707;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,20:33:99:517,0,362 2 105889349 105889349 G A exonic TGFBRAP1 synonymous SNV TGFBRAP1:NM_001142621:exon10:c.C1935T:p.L645L,TGFBRAP1:NM_001328646:exon10:c.C1935T:p.L645L,TGFBRAP1:NM_004257:exon10:c.C1935T:p.L645L 0.12 0.0091 0.22 0.08 0.22 0.12 0.1768 0.0377 0.2153 0.0876 0.2780 0.2048 0.2095 0.1287 0.15 0.041 0.21 0.098 0.15 rs11676273 COSM4001112 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1860 0.0340 0.2198 0.2620 0.0882 0.2769 0.2032 0.2057 0.1286 0.1615 0.0386 0.2081 0.2848 0.0928 0.2791 0.2059 0.1918 het 745.98 81 2 105889349 . G A 745.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.440;DP=81;Dels=0.00;FS=2.257;HRun=1;HaplotypeScore=3.9574;MQ=59.25;MQ0=0;MQRankSum=0.999;QD=9.21;ReadPosRankSum=0.154;VQSLOD=5.9050;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,30:81:99:776,0,1430 2 105915128 105915128 G A exonic TGFBRAP1 synonymous SNV TGFBRAP1:NM_001142621:exon3:c.C723T:p.R241R,TGFBRAP1:NM_001328646:exon3:c.C723T:p.R241R,TGFBRAP1:NM_004257:exon3:c.C723T:p.R241R 0.3 0.31 0.23 0.53 0.14 0.25 0.2070 0.3054 0.3031 0.5633 0.1362 0.1308 0.2146 0.2257 0.19 0.3 0.14 0.3 0.2 rs12476720 COSM148921 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2083 0.3109 0.2887 0.1349 0.5692 0.1362 0.1333 0.1942 0.2201 0.2093 0.2896 0.2494 0.1060 0.5700 0.1368 0.1422 0.1840 het 1099.06 76 2 105915128 . G A 1099.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.597;DP=76;Dels=0.00;FS=14.734;HRun=0;HaplotypeScore=4.4983;MQ=59.26;MQ0=0;MQRankSum=-0.419;QD=14.46;ReadPosRankSum=0.765;VQSLOD=2.9765;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,43:76:99:1129,0,885 2 105924510 105924510 A G exonic TGFBRAP1 synonymous SNV TGFBRAP1:NM_001142621:exon2:c.T249C:p.R83R,TGFBRAP1:NM_001328646:exon2:c.T249C:p.R83R,TGFBRAP1:NM_004257:exon2:c.T249C:p.R83R 0.64 0.68 0.58 0.74 0.49 0.66 0.5428 0.6652 0.5966 0.7469 0.3886 0.4830 0.4978 0.6259 0.55 0.67 0.49 0.24 0.52 rs2241801 COSM3723855 1(skin);2(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5373 0.6787 0.5863 0.3857 0.7467 0.3858 0.4904 0.5141 0.6279 0.5494 0.6811 0.5909 0.3576 0.7519 0.4006 0.4900 0.5092 het 1263.69 74 2 105924510 . A G 1263.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.794;DP=74;Dels=0.00;FS=2.090;HRun=0;HaplotypeScore=1.6553;MQ=59.38;MQ0=0;MQRankSum=-0.476;QD=17.08;ReadPosRankSum=0.443;VQSLOD=6.3160;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,45:74:99:1294,0,744 2 105977761 105977761 G A exonic FHL2 synonymous SNV FHL2:NM_001318897:exon5:c.C477T:p.P159P,FHL2:NM_001318894:exon6:c.C819T:p.P273P,FHL2:NM_001318896:exon6:c.C819T:p.P273P,FHL2:NM_001318898:exon6:c.C477T:p.P159P,FHL2:NM_001450:exon6:c.C819T:p.P273P,FHL2:NM_201557:exon6:c.C819T:p.P273P,FHL2:NM_001039492:exon7:c.C819T:p.P273P,FHL2:NM_001318895:exon7:c.C819T:p.P273P,FHL2:NM_001318899:exon8:c.C495T:p.P165P,FHL2:NM_201555:exon8:c.C819T:p.P273P 0.11 0.081 0.16 0.026 0.2 0.12 0.1567 0.0996 0.0803 0.0243 0.2430 0.1934 0.1839 0.1312 0.16 0.1 0.2 0.18 0.22 rs11124029 COSM3757559 1(large_intestine) Benign not_specified RCV000041653.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1593 0.0991 0.0907 0.2142 0.0255 0.2473 0.1935 0.1756 0.1307 0.1609 0.1045 0.1014 0.2384 0.0228 0.2424 0.1913 0.1640 het 2208.05 170 2 105977761 . G A 2208.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.589;DP=170;Dels=0.00;FS=0.567;HRun=0;HaplotypeScore=7.7441;MQ=59.89;MQ0=0;MQRankSum=1.689;QD=12.99;ReadPosRankSum=1.430;VQSLOD=3.9618;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:82,88:170:99:2238,0,2114 2 107423395 107423395 T G exonic ST6GAL2 synonymous SNV ST6GAL2:NM_001142351:exon6:c.A1329C:p.I443I,ST6GAL2:NM_001322362:exon6:c.A1329C:p.I443I,ST6GAL2:NM_032528:exon6:c.A1329C:p.I443I 0.41 0.45 0.47 0.17 0.61 0.34 0.5316 0.4960 0.4564 0.1728 0.6614 0.6053 0.5598 0.4250 0.55 0.48 0.59 0.43 0.39 rs1470590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5129 0.4839 0.4371 0.5756 0.1549 0.6521 0.5904 0.5492 0.4110 0.5411 0.4734 0.4713 0.5464 0.1477 0.6515 0.5982 0.5845 het 514.23 37 2 107423395 . T G 514.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.602;DP=37;Dels=0.00;FS=10.401;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=1.088;QD=13.90;ReadPosRankSum=1.426;VQSLOD=4.5119;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,21:37:99:544,0,438 2 107450589 107450589 C T exonic ST6GAL2 synonymous SNV ST6GAL2:NM_001142351:exon3:c.G957A:p.A319A,ST6GAL2:NM_001142352:exon3:c.G957A:p.A319A,ST6GAL2:NM_001322362:exon3:c.G957A:p.A319A,ST6GAL2:NM_032528:exon3:c.G957A:p.A319A 0.37 0.41 0.3 0.57 0.18 0.36 0.2672 0.3823 0.4397 0.5818 0.3192 0.1590 0.2445 0.3272 0.23 0.38 0.16 0.33 0.12 rs3796111 COSM3757564;COSM3757565 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2736 0.3889 0.4180 0.1727 0.5854 0.3198 0.1557 0.2244 0.3201 0.2666 0.3768 0.3675 0.1656 0.5963 0.3144 0.1541 0.2363 het 1899.95 138 2 107450589 . C T 1899.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.909;DP=138;DS;Dels=0.00;FS=2.614;HRun=0;HaplotypeScore=4.9834;MQ=59.36;MQ0=0;MQRankSum=-0.573;QD=13.77;ReadPosRankSum=0.441;VQSLOD=5.3413;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,70:138:99:1930,0,1632 2 107459974 107459974 C T exonic ST6GAL2 nonsynonymous SNV ST6GAL2:NM_001142351:exon2:c.G460A:p.G154R,ST6GAL2:NM_001142352:exon2:c.G460A:p.G154R,ST6GAL2:NM_001322362:exon2:c.G460A:p.G154R,ST6GAL2:NM_032528:exon2:c.G460A:p.G154R 0.14 0.15 0.15 0.14 0.1 0.16 0.1250 0.1539 0.2015 0.1194 0.2582 0.0830 0.1286 0.1717 0.1 0.15 0.074 0.087 0.057 rs3796110 COSM3723721;COSM3723720 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.311 0.140 T 0.055 0.213 B 0.005 0.104 B 0.826 0.069 N 1 0.090 P 0.885 0.217 L 2.53 0.309 T -1.48 0.377 N 0.033 0.013 -0.969 0.375 T 0.000 0.001 T . . . -0.378 0.063 0.438 0.855 0.154 0.074 0.133 N c -1.602 -1.595 0.105 0.165 0.646 0.450 0 -2.16 0.066 -1.363 0.027 -0.871 0.028 0.000 0.063 0.000 0.016 13.028 0.581 . . . 0.1310 0.1542 0.1990 0.0548 0.1182 0.2619 0.0803 0.1051 0.1704 0.1290 0.1480 0.1683 0.0464 0.1093 0.2576 0.0877 0.1568 het 4065.41 241 2 107459974 . C T 4065.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.806;DP=241;DS;Dels=0.00;FS=9.191;HRun=0;HaplotypeScore=6.5516;MQ=59.31;MQ0=0;MQRankSum=-0.372;QD=16.87;ReadPosRankSum=-0.160;VQSLOD=4.0480;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,123:241:99:3463,0,2927 2 108863767 108863767 A C exonic SULT1C3 synonymous SNV SULT1C3:NM_001008743:exon2:c.A117C:p.V39V,SULT1C3:NM_001320878:exon2:c.A117C:p.V39V 0.85 0.99 0.79 0.9 0.71 0.78 0.7716 0.9492 0.8219 0.9090 0.7495 0.7187 0.7583 0.7761 0.78 0.94 0.7 0.83 0.64 rs9308806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7650 0.9538 0.8069 0.7520 0.9017 0.7525 0.7089 0.7440 0.7738 0.7940 0.9454 0.7745 0.7517 0.9111 0.7466 0.7077 0.7729 het 1257.25 107 2 108863767 . A C 1257.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.555;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6453;MQ=58.42;MQ0=0;MQRankSum=0.826;QD=11.75;ReadPosRankSum=0.234;VQSLOD=5.3617;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,53:107:99:1287,0,1279 2 108875198 108875198 G A exonic SULT1C3 nonsynonymous SNV SULT1C3:NM_001008743:exon6:c.G535A:p.G179R,SULT1C3:NM_001320878:exon6:c.G535A:p.G179R 0.35 0.31 0.39 0.68 0.19 0.21 0.2803 0.3003 0.4968 0.6973 0.2141 0.2087 0.2594 0.2162 0.23 0.29 0.19 0.3 0.16 rs2219078 COSM3757569;COSM3757568 1(large_intestine) . . . . . . . . . . . 0.005 0.632 D 1.0 0.899 D 1.0 0.971 D 0.002 0.387 N 0.000 0.506 P 4.005 0.969 H -2.23 0.871 D -7.78 0.959 D 0.393 0.452 -0.903 0.477 T 0.000 0.000 T . . . 5.295 0.716 25.7 0.999 0.937 0.885 0.482 D c 0.454 0.189 0.037 0.143 0.487 0.133 0 2.21 0.269 5.559 0.668 0.770 0.312 1.000 0.715 0.026 0.142 9.208 0.363 P-loop containing nucleoside triphosphate hydrolase|Sulfotransferase domain ENSG00000198203.5|ENSG00000237223.2|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000237223.2|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000196228.2|ENSG00000198203.5|ENSG00000225328.1|ENSG00000225328.1|ENSG00000237223.2|ENSG00000225328.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Stomach|Testis|Thyroid|Thyroid 0.2867 0.3023 0.4785 0.2908 0.6902 0.2183 0.1993 0.2611 0.2148 0.2619 0.2992 0.4199 0.2848 0.6973 0.2192 0.1956 0.2582 het 978.54 98 2 108875198 . G A 978.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.735;DP=98;Dels=0.00;FS=2.722;HRun=0;HaplotypeScore=1.8947;MQ=58.32;MQ0=0;MQRankSum=0.369;QD=9.99;ReadPosRankSum=-1.705;VQSLOD=5.2931;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,41:98:99:1009,0,1421 2 108875244 108875244 T C exonic SULT1C3 nonsynonymous SNV SULT1C3:NM_001008743:exon6:c.T581C:p.M194T,SULT1C3:NM_001320878:exon6:c.T581C:p.M194T 0.51 0.67 0.47 0.71 0.28 0.35 0.3916 0.6297 0.5495 0.7269 0.2862 0.2999 0.3653 0.3714 0.39 0.62 0.28 0.55 0.27 rs6722745 COSM3757571;COSM3757570 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.813 0.030 T 0.0 0.026 B 0.0 0.013 B 0.277 0.150 N 1 0.090 P -1.295 0.007 N 4.76 0.016 T 0.62 0.024 N 0.014 0.002 -1.064 0.107 T 0.000 0.000 T . . . -2.117 0.007 0.001 0.212 0.008 0.031 0.079 N c -1.756 -1.707 0.000 0.055 0.487 0.133 0 0.643 0.169 0.534 0.226 -2.680 0.002 0.000 0.063 0.000 0.016 1.878 0.030 P-loop containing nucleoside triphosphate hydrolase|Sulfotransferase domain ENSG00000198203.5|ENSG00000237223.2|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000237223.2|ENSG00000196228.2|ENSG00000198203.5|ENSG00000225328.1|ENSG00000225328.1|ENSG00000225328.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Lung|Muscle_Skeletal|Nerve_Tibial|Stomach|Stomach|Stomach|Testis|Thyroid 0.3909 0.6370 0.5352 0.3760 0.7197 0.3001 0.2900 0.3494 0.3712 0.4080 0.6250 0.4833 0.3775 0.7224 0.2944 0.2756 0.3473 het 882.44 87 2 108875244 . T C 882.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.341;DP=87;Dels=0.00;FS=1.941;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;MQRankSum=0.035;QD=10.14;ReadPosRankSum=0.192;VQSLOD=5.6422;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,37:87:99:912,0,1358 2 109099572 109099572 C G exonic GCC2 nonsynonymous SNV GCC2:NM_181453:exon12:c.C3400G:p.Q1134E 1. 1. 0.99 1. 0.99 1. 0.9912 0.9979 0.9954 1 0.9865 0.9879 0.9889 0.9949 0.99 1. 0.99 0.99 0.9 rs2718698 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.998 0.226 P -1.69 0.004 N 1.82 0.250 T 0.93 0.016 N 0.126 0.153 -0.930 0.442 T 0.000 0.000 T . . . 1.763 0.273 14.77 0.377 0.025 0.114 0.165 N c -0.839 -0.500 0.070 0.155 0.707 0.730 0 5.13 0.696 2.968 0.487 -0.398 0.063 1.000 0.715 0.855 0.357 16.155 0.814 . . . 0.9907 0.9980 0.9938 0.9995 1 0.9845 0.9868 0.9914 0.9945 0.9908 0.9967 0.9928 1 1 0.9860 0.9872 0.9908 hom 1478.10 50 2 109099572 . C G 1478.10 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.49;MQ0=0;QD=29.56;VQSLOD=8.0189;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1511,114,0 2 109106381 109106381 A G exonic GCC2 synonymous SNV GCC2:NM_181453:exon18:c.A4140G:p.Q1380Q 0.46 0.17 0.59 0.89 0.38 0.39 0.4509 0.2188 0.6967 0.9194 0.4203 0.4053 0.4365 0.3732 0.34 0.22 0.41 0.32 0.39 rs12104502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4602 0.2119 0.6744 0.3940 0.9268 0.4138 0.4023 0.4144 0.3702 0.3941 0.2232 0.6340 0.3767 0.9351 0.4244 0.4150 0.3929 het 1395.48 86 2 109106381 . A G 1395.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.729;DP=86;Dels=0.00;FS=1.924;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;MQRankSum=0.411;QD=16.23;ReadPosRankSum=-1.276;VQSLOD=5.8712;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,52:86:99:1425,0,927 2 109389463 109389463 G A exonic RANBP2 synonymous SNV RANBP2:NM_006267:exon23:c.G8253A:p.E2751E 0.99 0.95 1. 1. 1. 1. 0.9959 0.9545 0.9987 1 1 0.9999 0.9989 0.9999 0.98 0.95 1. 1. 0.93 rs826580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9969 0.9576 0.9977 1 1 1 0.9999 0.9978 1.0000 0.9884 0.9595 0.9976 1 1 1 0.9999 0.9980 hom 1331.93 44 2 109389463 . G A 1331.93 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.11;MQ0=0;QD=30.27;VQSLOD=7.9323;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1365,102,0 2 109414936 109414936 G T exonic CCDC138 nonsynonymous SNV CCDC138:NM_001351545:exon5:c.G614T:p.R205L,CCDC138:NM_001351548:exon5:c.G503T:p.R168L,CCDC138:NM_001351557:exon5:c.G614T:p.R205L,CCDC138:NM_001351561:exon5:c.G614T:p.R205L,CCDC138:NM_001303105:exon6:c.G629T:p.R210L,CCDC138:NM_001351544:exon6:c.G647T:p.R216L,CCDC138:NM_001351549:exon6:c.G629T:p.R210L,CCDC138:NM_001351551:exon6:c.G629T:p.R210L,CCDC138:NM_001351553:exon6:c.G647T:p.R216L,CCDC138:NM_001351554:exon6:c.G647T:p.R216L,CCDC138:NM_001351555:exon6:c.G629T:p.R210L,CCDC138:NM_001351559:exon6:c.G629T:p.R210L,CCDC138:NM_144978:exon6:c.G629T:p.R210L . . . . . . 8.249e-06 0 0 0 0 1.501e-05 0 0 0.0001 . 0.0001 . . rs147076589 . . . . . . . . . . . . . 0.174 0.225 T 0.302 0.308 B 0.065 0.318 B 0.977 0.081 N 1 0.090 N 2.42 0.702 M -2.71 0.906 D -2.93 0.632 D 0.288 0.360 -0.881 0.497 T 0.141 0.461 T 0.047 0.630 D 1.406 0.232 12.82 0.957 0.271 0.057 0.114 N c -0.832 -0.954 0.999 0.386 0.563 0.310 0 -3.58 0.043 -0.076 0.113 -0.692 0.038 0.000 0.063 0.920 0.395 13.527 0.609 . . . 8.126e-06 0 0 0 0 0 1.791e-05 0 0 . . . . . . . . het 877.52 65 2 109414936 . G T 877.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.756;DP=65;Dels=0.00;FS=8.863;HRun=6;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-0.245;QD=13.50;ReadPosRankSum=1.080;VQSLOD=3.0899;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,37:65:99:908,0,781 2 109429146 109429146 T A exonic CCDC138 synonymous SNV CCDC138:NM_001351545:exon7:c.T900A:p.A300A,CCDC138:NM_001351548:exon7:c.T789A:p.A263A,CCDC138:NM_001351557:exon7:c.T900A:p.A300A,CCDC138:NM_001351561:exon7:c.T900A:p.A300A,CCDC138:NM_001303105:exon8:c.T915A:p.A305A,CCDC138:NM_001351544:exon8:c.T933A:p.A311A,CCDC138:NM_001351549:exon8:c.T915A:p.A305A,CCDC138:NM_001351551:exon8:c.T912A:p.A304A,CCDC138:NM_001351553:exon8:c.T933A:p.A311A,CCDC138:NM_001351554:exon8:c.T930A:p.A310A,CCDC138:NM_001351555:exon8:c.T912A:p.A304A,CCDC138:NM_001351559:exon8:c.T915A:p.A305A,CCDC138:NM_144978:exon8:c.T915A:p.A305A 0.61 0.22 0.78 0.89 0.76 0.6 0.7278 0.2927 0.8510 0.9037 0.8154 0.7611 0.7450 0.6524 0.61 0.31 0.76 0.54 0.82 rs975597 COSM4001127 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7417 0.2825 0.8437 0.7558 0.9078 0.8092 0.7566 0.7416 0.6580 0.6432 0.2921 0.8333 0.7053 0.9363 0.8018 0.7611 0.7291 hom 6632.08 229 2 109429146 . T A 6632.08 Mask AC=2;AF=1.00;AN=2;DP=229;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8570;MQ=58.89;MQ0=0;QD=28.96;VQSLOD=7.7985;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,229:229:99:6631,524,0 2 109513654 109513654 G A exonic EDAR synonymous SNV EDAR:NM_022336:exon12:c.C1056T:p.C352C 0.71 0.35 0.84 0.95 0.84 0.73 0.8103 0.4325 0.9027 0.9604 0.8876 0.8382 0.8221 0.7537 0.7 0.44 0.83 0.65 0.82 rs12623957 . . Uncertain significance|Benign|Benign not_provided|not_specified|Hypohidrotic_Ectodermal_Dysplasia\x2c_Dominant RCV000143982.1|RCV000150610.3|RCV000269800.1 MedGen|MedGen|MedGen CN221809|CN169374|CN239335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8218 0.4250 0.8953 0.8881 0.9640 0.8796 0.8319 0.8240 0.7567 0.7390 0.4424 0.8831 0.8609 0.9777 0.8830 0.8360 0.8221 hom 3427.87 111 2 109513654 . G A 3427.87 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;QD=30.88;VQSLOD=9.6173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3427,283,0 2 109526969 109526969 G A exonic EDAR synonymous SNV EDAR:NM_022336:exon9:c.C750T:p.S250S 0.92 0.88 0.93 0.99 0.91 0.92 0.9170 0.8828 0.9511 0.9983 0.9096 0.9052 0.9152 0.9223 0.9 0.88 0.9 0.92 0.91 rs260632 COSM3766485;COSM3766486 1(liver) Uncertain significance|Benign|Benign not_provided|not_specified|Hypohidrotic_Ectodermal_Dysplasia\x2c_Dominant RCV000143987.1|RCV000150611.2|RCV000285005.1 MedGen|MedGen|MedGen CN221809|CN169374|CN239335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9188 0.8825 0.9529 0.9441 0.9987 0.8994 0.9025 0.9147 0.9205 0.9016 0.8816 0.9451 0.9305 0.9988 0.9044 0.8988 0.9059 hom 1169.85 38 2 109526969 . G A 1169.85 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.79;VQSLOD=14.0777;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:90.29:1203,90,0 2 110373197 110373197 G A exonic SOWAHC synonymous SNV SOWAHC:NM_023016:exon1:c.G1131A:p.K377K 0.32 0.25 0.47 0.39 0.26 0.31 0.2913 0.2801 0.5497 0.3960 0.1673 0.2425 0.2688 0.3101 0.26 0.27 0.25 0.25 0.23 rs1560884 COSM3757578 1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2986 0.2727 0.5299 0.2841 0.4018 0.1697 0.2412 0.2882 0.3098 0.2553 0.2689 0.5107 0.2947 0.4112 0.1686 0.2365 0.2429 het 997.56 72 2 110373197 . G A 997.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.231;DP=72;Dels=0.00;FS=2.120;HRun=5;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.177;QD=13.85;ReadPosRankSum=0.479;VQSLOD=6.0590;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,36:72:99:1028,0,947 2 110922703 110922703 C T exonic NPHP1 synonymous SNV NPHP1:NM_001128179:exon5:c.G468A:p.E156E,NPHP1:NM_000272:exon7:c.G654A:p.E218E,NPHP1:NM_001128178:exon7:c.G654A:p.E218E,NPHP1:NM_207181:exon7:c.G654A:p.E218E 0.47 0.51 0.42 0.59 0.3 0.53 0.3793 0.4899 0.3489 0.5961 0.2347 0.3226 0.3778 0.5047 0.38 0.49 0.32 0.5 0.31 rs11675767 COSM5653856 1(haematopoietic_and_lymphoid_tissue) other|Benign|Benign|Benign not_specified|Joubert_syndrome|Renal_dysplasia_and_retinal_aplasia|Nephronophthisis RCV000078490.10|RCV000313743.1|RCV000367290.1|RCV000400518.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|C0431399:ORPHA475:253175003:716997004|CN117960:ORPHA3156:236531005|C0687120:204958008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3736 0.4936 0.3621 0.3289 0.5965 0.2266 0.3257 0.3475 0.5005 0.3675 0.4870 0.3421 0.35 0.5825 0.2305 0.3127 0.3018 hom 4185.73 143 2 110922703 . C T 4185.73 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8057;MQ=59.45;MQ0=0;QD=29.27;VQSLOD=8.5946;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:143:99:4185,319,0 2 111562875 111562875 C T exonic ACOXL nonsynonymous SNV ACOXL:NM_001142807:exon9:c.C656T:p.S219L 0.011 0.003 0.025 . 0.03 0.0031 0.0218 0.0062 0.0098 0.0001 0.0159 0.0333 0.0231 0.0071 0.026 0.0089 0.035 . 0.082 rs77331476 . . . . . . . . . . . . . 0.025 0.555 D 0.992 0.670 D 0.619 0.535 P 0.000 0.629 N 0.949 0.376 D 2.09 0.581 M -3.41 0.943 D -5.27 0.841 D 0.197 0.465 0.214 0.862 D 0.499 0.811 T . . . 5.407 0.733 26.0 0.994 0.613 0.466 0.275 N c 0.021 -0.036 1.000 0.747 0.672 0.522 0 4.94 0.645 2.596 0.456 0.069 0.176 0.948 0.327 0.066 0.174 12.792 0.567 Acyl-CoA dehydrogenase/oxidase\x2c N-terminal and middle domain . . 0.0219 0.0051 0.0130 0.0129 0.0001 0.0183 0.0356 0.0244 0.0078 0.0236 0.0077 0.0131 0.0132 0 0.0198 0.0376 0.0173 het 2455.61 197 2 111562875 . C T 2455.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.377;DP=197;Dels=0.00;FS=3.332;HRun=2;HaplotypeScore=1.6640;MQ=59.48;MQ0=0;MQRankSum=1.302;QD=12.47;ReadPosRankSum=-0.822;VQSLOD=5.6539;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:108,89:197:99:2486,0,2750 2 111907691 111907691 T C exonic BCL2L11 synonymous SNV BCL2L11:NM_001204106:exon3:c.T195C:p.I65I,BCL2L11:NM_001204107:exon3:c.T195C:p.I65I,BCL2L11:NM_001204108:exon3:c.T465C:p.I155I,BCL2L11:NM_001204110:exon3:c.T195C:p.I65I,BCL2L11:NM_138621:exon3:c.T465C:p.I155I,BCL2L11:NM_138622:exon3:c.T465C:p.I155I,BCL2L11:NM_207003:exon3:c.T195C:p.I65I,BCL2L11:NM_006538:exon4:c.T285C:p.I95I,BCL2L11:NM_138623:exon4:c.T285C:p.I95I 0.69 0.8 0.5 0.85 0.67 0.54 0.6562 0.7927 0.4213 0.8680 0.6623 0.6746 0.6399 0.5471 0.71 0.79 0.67 0.71 0.67 rs724710 COSM5652934;COSM5652933;COSM5652932 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6431 0.7971 0.4340 0.6126 0.8738 0.6542 0.6767 0.6268 0.5484 0.7095 0.7850 0.4713 0.5762 0.8717 0.6500 0.6828 0.6337 het 700.42 82 2 111907691 . T C 700.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.850;DP=82;Dels=0.00;FS=0.924;HRun=0;HaplotypeScore=1.7333;MQ=60.00;MQ0=0;MQRankSum=-0.256;QD=8.54;ReadPosRankSum=-1.599;VQSLOD=5.6144;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,33:82:99:730,0,1244 2 112686988 112686988 G A exonic MERTK nonsynonymous SNV MERTK:NM_006343:exon2:c.G353A:p.S118N 0.17 0.022 0.18 0.17 0.29 0.23 0.2313 0.0613 0.1439 0.1338 0.2079 0.2904 0.2291 0.2216 0.22 0.07 0.3 0.16 0.25 rs13027171 COSM4001134 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000081390.4|RCV000362037.1 MedGen|MedGen CN169374|CN239466 . . . . . . 0.714 0.040 T 0.001 0.067 B 0.001 0.040 B 0.620 0.108 N 1 0.313 P 0.495 0.134 N -0.34 0.685 T -0.15 0.093 N 0.003 0.000 -1.025 0.220 T 0.000 0.000 T . . . -1.221 0.024 0.006 0.578 0.057 0.005 0.022 N c -1.456 -1.467 0.494 0.209 0.707 0.730 0 -3.98 0.038 -0.330 0.079 0.130 0.216 0.001 0.137 0.569 0.283 11.622 0.502 Immunoglobulin|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000144152.8|ENSG00000153208.12|ENSG00000153214.5|ENSG00000153214.5|ENSG00000153208.12|ENSG00000153214.5|ENSG00000153208.12|ENSG00000144152.8 Artery_Tibial|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.2311 0.0560 0.1527 0.2902 0.1396 0.2028 0.2945 0.2582 0.2215 0.1977 0.0645 0.1791 0.3212 0.1420 0.2009 0.2780 0.2133 het 1633.38 143 2 112686988 . G A 1633.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.206;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5518;MQ=58.99;MQ0=0;MQRankSum=-0.743;QD=11.42;ReadPosRankSum=-0.470;VQSLOD=6.3637;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,62:143:99:1663,0,2195 2 112751928 112751928 G A exonic MERTK nonsynonymous SNV MERTK:NM_006343:exon9:c.G1397A:p.R466K 0.56 0.67 0.6 0.28 0.62 0.62 0.5972 0.6548 0.6560 0.2422 0.6642 0.6182 0.6057 0.5929 0.63 0.65 0.63 0.6 0.64 rs7604639 COSM3736212;COSM4418611 4(haematopoietic_and_lymphoid_tissue);1(skin) Likely benign Retinitis_Pigmentosa\x2c_Recessive RCV000397330.1 MedGen CN239466 . . . . . . 1.0 0.026 T 0.0 0.026 B 0.0 0.013 B 0.060 0.223 N 1 0.090 P -1.685 0.004 N 0.65 0.527 T 0.86 0.020 N 0.04 0.020 -0.967 0.378 T 0.000 0.000 T . . . -1.256 0.023 0.005 0.475 0.038 0.002 0.014 N c -1.660 -1.635 0.816 0.244 0.706 0.609 0 -3.17 0.049 -1.643 0.021 0.244 0.267 0.000 0.063 0.328 0.242 12.562 0.555 Fibronectin type III|Immunoglobulin-like fold ENSG00000153214.5|ENSG00000153208.12|ENSG00000169629.7|ENSG00000153214.5|ENSG00000169629.7 Adipose_Visceral_Omentum|Adrenal_Gland|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Whole_Blood 0.5983 0.6474 0.6440 0.6330 0.2481 0.6683 0.6160 0.6260 0.5894 0.6217 0.6596 0.6340 0.6887 0.2466 0.6623 0.6294 0.6107 hom 7661.86 239 2 112751928 . G A 7661.86 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.818;DP=239;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1757;MQ=59.13;MQ0=0;MQRankSum=-0.192;QD=32.06;ReadPosRankSum=1.020;VQSLOD=6.8235;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:3,236:239:99:7625,572,0 2 112754943 112754943 C T exonic MERTK synonymous SNV MERTK:NM_006343:exon10:c.C1494T:p.N498N 0.19 0.1 0.19 0.17 0.29 0.23 0.2385 0.1366 0.1464 0.1329 0.2080 0.2912 0.2324 0.2223 0.25 0.15 0.3 0.21 0.26 rs3811634 . . Likely benign Retinitis_Pigmentosa\x2c_Recessive RCV000296979.1 MedGen CN239466 . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . -1.042 0.166 T 0.000 0.000 T . . . 1.865 0.285 15.37 0.617 0.066 0.033 0.083 N c -0.338 -0.428 0.004 0.102 0.707 0.730 0 1.35 0.210 -0.352 0.077 -0.332 0.074 0.000 0.063 0.913 0.390 9.338 0.370 . ENSG00000144152.8|ENSG00000153208.12|ENSG00000153214.5|ENSG00000153214.5|ENSG00000153208.12|ENSG00000153214.5|ENSG00000153208.12|ENSG00000144152.8 Artery_Tibial|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.2371 0.1335 0.1569 0.2912 0.1387 0.2028 0.2955 0.2638 0.2224 0.2198 0.1394 0.1878 0.3278 0.1413 0.2022 0.2791 0.2153 het 3160.75 248 2 112754943 . C T 3160.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.930;DP=248;DS;Dels=0.00;FS=3.041;HRun=0;HaplotypeScore=2.7869;MQ=59.26;MQ0=0;MQRankSum=0.713;QD=12.74;ReadPosRankSum=1.472;VQSLOD=6.1912;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:138,110:248:99:3191,0,3377 2 112755001 112755001 A G exonic MERTK nonsynonymous SNV MERTK:NM_006343:exon10:c.A1552G:p.I518V 0.56 0.67 0.6 0.28 0.63 0.62 0.5973 0.6548 0.6562 0.2425 0.6641 0.6184 0.6057 0.5930 0.63 0.65 0.63 0.62 0.63 rs2230515 COSM4132997;COSM3736213 3(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid);1(large_intestine) Likely benign Retinitis_Pigmentosa\x2c_Recessive RCV000354460.1 MedGen CN239466 . . . . . . 0.795 0.045 T 0.001 0.067 B 0.001 0.040 B 0.403 0.131 N 1 0.090 P -0.085 0.047 N -0.81 0.740 T 0.03 0.070 N 0.021 0.006 -0.960 0.391 T 0.000 0.000 T . . . -1.806 0.011 0.002 0.171 0.005 0.006 0.027 N c -1.538 -1.485 0.006 0.111 0.707 0.730 0 -2.03 0.069 -0.677 0.053 -0.675 0.039 0.000 0.063 0.431 0.259 12.157 0.532 . ENSG00000153214.5|ENSG00000153208.12|ENSG00000169629.7|ENSG00000153214.5|ENSG00000169629.7 Adipose_Visceral_Omentum|Adrenal_Gland|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Whole_Blood 0.5984 0.6474 0.6442 0.6332 0.2481 0.6683 0.6162 0.6259 0.5894 0.6218 0.6603 0.6340 0.6887 0.2469 0.6620 0.6290 0.6100 hom 5020.21 146 2 112755001 . A G 5020.21 Mask AC=2;AF=1.00;AN=2;DP=146;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.1815;MQ=60.00;MQ0=0;QD=34.39;VQSLOD=7.1157;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:5020,400,0 2 112765973 112765973 A G exonic MERTK synonymous SNV MERTK:NM_006343:exon14:c.A1881G:p.S627S 0.52 0.5 0.6 0.27 0.62 0.62 0.5825 0.5129 0.6478 0.2413 0.6639 0.6164 0.5991 0.5885 0.59 0.52 0.62 0.54 0.61 rs1131244 COSM4416817;COSM4001138 3(haematopoietic_and_lymphoid_tissue) Likely benign Retinitis_Pigmentosa\x2c_Recessive RCV000367099.1 MedGen CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5864 0.5040 0.6345 0.6325 0.2472 0.6681 0.6140 0.6193 0.5852 0.5805 0.5181 0.6223 0.6887 0.2469 0.6615 0.6273 0.6090 hom 2291.14 85 2 112765973 . A G 2291.14 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=26.95;VQSLOD=8.3437;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:85:99:2324,187,0 2 112832536 112832538 AAT - exonic TMEM87B nonframeshift deletion TMEM87B:NM_001329914:exon5:c.498_500del:p.M167del,TMEM87B:NM_032824:exon5:c.498_500del:p.M167del 0.26 0.21 0.3 0.18 0.4 0.23 0.3074 0.2251 0.2327 0.1456 0.2651 0.3816 0.3216 0.2166 0.33 0.21 0.39 0.21 0.21 rs71385858 COSM5713065 3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3018 0.2053 0.2329 0.4040 0.1464 0.2519 0.3800 0.3388 0.2110 0.2968 0.2189 0.2888 0.4470 0.1463 0.2661 0.3643 0.2800 hom 3292.36 60 2 112832535 . CAAT C 3292.36 Mask AC=2;AF=1.00;AN=2;DP=60;FS=0.000;HRun=0;HaplotypeScore=263.4053;MQ=55.23;MQ0=0;QD=54.87;set=variant2 GT:AD:DP:GQ:PL 1/1:0,60:60:99:3292,181,0 2 113089267 113089267 T C exonic ZC3H6 synonymous SNV ZC3H6:NM_198581:exon12:c.T2772C:p.N924N 0.73 0.97 0.65 0.74 0.55 0.61 0.5962 0.9140 0.6169 0.7739 0.5871 0.5208 0.5895 0.6088 0.64 0.9 0.52 0.78 . rs7601200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5933 0.9192 0.6255 0.4500 0.7754 0.5852 0.5230 0.5680 0.6042 0.6576 0.9023 0.5870 0.4768 0.7847 0.5894 0.5291 0.5917 het 1047.53 73 2 113089267 . T C 1047.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.518;DP=73;Dels=0.00;FS=0.961;HRun=0;HaplotypeScore=3.6618;MQ=58.52;MQ0=0;MQRankSum=2.334;QD=14.35;ReadPosRankSum=-0.690;VQSLOD=5.1873;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,36:73:99:1078,0,985 2 113090047 113090047 T C exonic ZC3H6 synonymous SNV ZC3H6:NM_198581:exon12:c.T3552C:p.T1184T 0.72 0.97 0.65 0.74 0.55 0.62 0.5980 0.9071 0.6154 0.7762 0.5855 0.5231 0.6012 0.6260 0.65 0.9 0.54 0.78 . rs4578863 COSM4133000 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5939 0.9131 0.6257 0.4542 0.7763 0.5857 0.5237 0.5687 0.6060 0.6559 0.8969 0.5827 0.4768 0.7859 0.5893 0.5289 0.5898 het 1704.51 188 2 113090047 . T C 1704.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.570;DP=188;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5317;MQ=59.06;MQ0=0;MQRankSum=-1.280;QD=9.07;ReadPosRankSum=-0.094;VQSLOD=5.8242;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:112,76:188:99:1735,0,3004 2 113277949 113277949 T C exonic TTL synonymous SNV TTL:NM_153712:exon6:c.T966C:p.D322D 0.18 0.12 0.094 0.28 0.21 0.22 0.1783 0.1173 0.0815 0.3051 0.3060 0.1693 0.1828 0.2035 0.15 0.13 0.16 0.18 0.11 rs62157538 COSM1398862 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1776 0.1168 0.0892 0.1444 0.2972 0.2997 0.1671 0.1772 0.1976 0.1866 0.1177 0.1134 0.1159 0.3106 0.3009 0.1889 0.2383 het 1398.06 127 2 113277949 . T C 1398.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.503;DP=127;Dels=0.00;FS=4.095;HRun=0;HaplotypeScore=2.8871;MQ=59.67;MQ0=0;MQRankSum=-1.956;QD=11.01;ReadPosRankSum=0.288;VQSLOD=4.5472;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,57:127:99:1428,0,2089 2 113308516 113308516 T A exonic POLR1B synonymous SNV POLR1B:NM_001282776:exon2:c.T66A:p.T22T,POLR1B:NM_001137604:exon4:c.T531A:p.T177T,POLR1B:NM_001282774:exon5:c.T699A:p.T233T,POLR1B:NM_001282779:exon5:c.T282A:p.T94T,POLR1B:NM_019014:exon5:c.T699A:p.T233T,POLR1B:NM_001282772:exon6:c.T813A:p.T271T,POLR1B:NM_001282777:exon6:c.T282A:p.T94T 0.55 0.5 0.56 0.4 0.69 0.64 0.6505 0.5524 0.5269 0.3504 0.5991 0.7262 0.6608 0.6701 0.68 0.56 0.74 0.61 0.74 rs2304555 COSM4001141;COSM4001142 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6448 0.5516 0.5272 0.7631 0.3468 0.6044 0.7269 0.6694 0.6752 0.6296 0.5558 0.5622 0.7848 0.3475 0.6051 0.7085 0.6429 het 2544.91 201 2 113308516 . T A 2544.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.043;DP=201;Dels=0.00;FS=1.780;HRun=0;HaplotypeScore=4.9206;MQ=59.37;MQ0=0;MQRankSum=0.335;QD=12.66;ReadPosRankSum=0.849;VQSLOD=4.9043;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,92:201:99:2575,0,2781 2 113309473 113309473 C T exonic POLR1B nonsynonymous SNV POLR1B:NM_001282776:exon3:c.C251T:p.S84L,POLR1B:NM_001137604:exon5:c.C716T:p.S239L,POLR1B:NM_001282774:exon6:c.C884T:p.S295L,POLR1B:NM_001282779:exon6:c.C467T:p.S156L,POLR1B:NM_019014:exon6:c.C884T:p.S295L,POLR1B:NM_001282772:exon7:c.C998T:p.S333L,POLR1B:NM_001282777:exon7:c.C467T:p.S156L 0.45 0.34 0.5 0.4 0.57 0.47 0.5229 0.4126 0.4655 0.3491 0.4755 0.5847 0.5374 0.4919 0.54 0.42 0.6 0.47 0.57 rs1545133 COSM4001144;COSM4001143 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.358 0.132 T 0.0 0.144 B 0.001 0.112 B 0.714 0.100 N 1.000 0.090 P -0.09 0.047 N 0.04 0.621 T -0.39 0.138 N 0.052 0.059 -0.931 0.439 T 0.000 0.000 T . . . 1.260 0.216 12.06 0.772 0.114 0.093 0.149 N c -1.367 -1.278 0.000 0.058 0.707 0.730 0 -2.63 0.057 -0.084 0.111 -1.867 0.006 0.000 0.063 0.105 0.191 5.574 0.164 RNA polymerase Rpb2\x2c domain 2|RNA polymerase\x2c beta subunit\x2c protrusion;RNA polymerase\x2c beta subunit\x2c protrusion ENSG00000169629.7|ENSG00000169629.7|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000169629.7|ENSG00000169629.7|ENSG00000169629.7|ENSG00000125630.11|ENSG00000125630.11|ENSG00000114999.7|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000125611.11|ENSG00000169629.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Whole_Blood 0.5223 0.4099 0.4613 0.6233 0.3455 0.4832 0.5873 0.5479 0.4992 0.5026 0.4207 0.5060 0.6490 0.3490 0.4764 0.5690 0.5133 het 1946.14 167 2 113309473 . C T 1946.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.773;DP=167;Dels=0.00;FS=1.962;HRun=2;HaplotypeScore=5.4836;MQ=59.00;MQ0=0;MQRankSum=0.649;QD=11.65;ReadPosRankSum=0.464;VQSLOD=5.4518;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,74:167:99:1976,0,2307 2 113404708 113404708 G A exonic SLC20A1 synonymous SNV SLC20A1:NM_005415:exon2:c.G303A:p.L101L 0.36 0.16 0.45 0.22 0.55 0.52 0.4920 0.2051 0.4897 0.2092 0.5789 0.5662 0.5221 0.4859 0.44 0.21 0.56 0.41 0.5 rs4849091 COSM4001145 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4946 0.1956 0.4801 0.5379 0.2116 0.5684 0.5656 0.5294 0.4895 0.4369 0.1999 0.4952 0.5232 0.1988 0.5664 0.5585 0.5347 het 1128.41 107 2 113404708 . G A 1128.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.994;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;MQRankSum=-0.047;QD=10.55;ReadPosRankSum=-2.024;VQSLOD=5.9682;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,47:107:99:1158,0,1638 2 113498566 113498566 A G exonic CKAP2L nonsynonymous SNV CKAP2L:NM_001304361:exon8:c.T1346C:p.L449S,CKAP2L:NM_152515:exon8:c.T1841C:p.L614S 0.42 0.056 0.55 0.69 0.51 0.46 0.4926 0.1180 0.6310 0.6874 0.5540 0.5079 0.4956 0.4428 0.38 0.13 0.5 0.36 0.48 rs3811040 COSM3757580 1(bone);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.933 0.022 T 0.009 0.192 B 0.007 0.212 B 0.145 0.029 N 1 0.090 P 1.04 0.263 L 2.06 0.205 T 0.75 0.020 N 0.021 0.067 -0.976 0.360 T 0.000 0.000 T . . . -0.066 0.088 2.000 0.746 0.104 0.018 0.057 N c -1.179 -1.167 0.997 0.354 0.707 0.730 0 -0.529 0.113 -0.156 0.100 0.223 0.255 0.000 0.063 0.503 0.271 7.213 0.250 Cytoskeleton-associated protein 2\x2c C-terminal ENSG00000144130.7 Testis 0.5028 0.1123 0.6136 0.4926 0.6846 0.5489 0.5028 0.5024 0.4443 0.4088 0.1259 0.5935 0.4834 0.6850 0.5501 0.4953 0.4612 hom 5512.27 177 2 113498566 . A G 5512.27 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1907;MQ=59.16;MQ0=0;QD=31.14;VQSLOD=8.0648;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,176:177:99:5512,421,0 2 113513825 113513825 T C exonic CKAP2L nonsynonymous SNV CKAP2L:NM_001304361:exon4:c.A628G:p.I210V,CKAP2L:NM_152515:exon4:c.A1123G:p.I375V 0.96 0.93 0.96 1. 0.95 0.98 0.9622 0.9250 0.9761 1 0.9781 0.9552 0.9537 0.9786 0.94 0.93 0.95 0.99 0.95 rs6731822 . . . . . . . . . . . . . 0.413 0.100 T 0.002 0.090 B 0.002 0.063 B 0.107 0.026 N 1 0.090 P 0.895 0.225 L 3.31 0.063 T 0.04 0.065 N 0.003 0.003 -0.957 0.398 T 0.000 0.000 T . . . -3.223 0.001 0.001 0.212 0.008 0.013 0.044 N c -1.537 -1.688 1.000 0.747 0.719 0.830 0 -7.88 0.010 -2.573 0.010 -0.753 0.034 0.000 0.063 0.001 0.043 9.727 0.393 . . . 0.9627 0.9257 0.9731 0.9597 0.9999 0.9795 0.9523 0.9575 0.9765 0.9532 0.9269 0.9809 0.9536 1 0.9736 0.9565 0.9623 hom 6034.03 192 2 113513825 . T C 6034.03 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9721;MQ=59.49;MQ0=0;QD=31.43;VQSLOD=8.9271;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:6033,499,0 2 113674709 113674709 C G exonic IL37 nonsynonymous SNV IL37:NM_173202:exon2:c.C86G:p.P29R,IL37:NM_173205:exon2:c.C71G:p.P24R,IL37:NM_014439:exon3:c.C149G:p.P50R 0.076 0.17 0.059 0.001 0.081 0.029 0.0712 0.1711 0.0407 0.0001 0.0727 0.0798 0.0719 0.0316 0.11 0.17 0.08 0.12 0.074 rs2708943 . . . . . . . . . . . . . 0.078 0.614 T 0.919 0.539 P 0.504 0.471 P . . . 1 0.090 P 0.895 0.225 L 0.52 0.553 T -1.73 0.571 N 0.19 0.232 -1.104 0.037 T 0.001 0.002 T . . . 2.481 0.359 19.34 0.993 0.583 0.047 0.102 N c -0.550 -0.757 0.001 0.076 0.487 0.133 0 0.99 0.188 -0.117 0.106 0.786 0.318 0.000 0.063 0.163 0.208 4.875 0.129 . ENSG00000227368.1 Skin_Sun_Exposed_Lower_leg 0.0680 0.1709 0.0423 0.0686 0.0001 0.0688 0.0820 0.0635 0.0324 0.1008 0.1742 0.0537 0.0728 0 0.0733 0.0804 0.0743 het 1434.04 101 2 113674709 . C G 1434.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.793;DP=101;Dels=0.00;FS=6.428;HRun=0;HaplotypeScore=2.4203;MQ=58.56;MQ0=0;MQRankSum=0.215;QD=14.20;ReadPosRankSum=-1.047;VQSLOD=4.6744;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,55:101:99:1464,0,1163 2 113674721 113674721 A G exonic IL37 nonsynonymous SNV IL37:NM_173202:exon2:c.A98G:p.N33S,IL37:NM_173205:exon2:c.A83G:p.N28S,IL37:NM_014439:exon3:c.A161G:p.N54S 0.076 0.17 0.059 0.001 0.081 0.029 0.0712 0.1709 0.0407 0.0001 0.0727 0.0798 0.0717 0.0315 0.11 0.17 0.08 0.12 0.074 rs2723183 . . . . . . . . . . . . . 0.853 0.036 T 0.006 0.126 B 0.006 0.112 B 0.002 0.008 N 1 0.090 P 0.345 0.112 N 0.52 0.553 T -0.07 0.100 N 0.044 0.024 -1.083 0.068 T 0.000 0.001 T . . . -2.968 0.001 0.001 0.162 0.004 0.003 0.017 N c -1.836 -1.918 0.029 0.139 0.549 0.223 0 -4.93 0.028 -2.551 0.010 -1.107 0.018 0.000 0.063 0.000 0.016 0.761 0.009 . ENSG00000227368.1 Skin_Sun_Exposed_Lower_leg 0.0680 0.1707 0.0423 0.0686 0.0001 0.0687 0.0820 0.0635 0.0324 0.1008 0.1742 0.0537 0.0728 0 0.0733 0.0804 0.0743 het 1655.94 107 2 113674721 . A G 1655.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.338;DP=107;Dels=0.00;FS=7.660;HRun=0;HaplotypeScore=5.8888;MQ=58.65;MQ0=0;MQRankSum=0.172;QD=15.48;ReadPosRankSum=-1.531;VQSLOD=4.1388;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,59:107:99:1686,0,1160 2 113675269 113675269 C T exonic IL37 nonsynonymous SNV IL37:NM_173203:exon2:c.C140T:p.P47L,IL37:NM_173202:exon3:c.C260T:p.P87L,IL37:NM_173204:exon3:c.C203T:p.P68L,IL37:NM_173205:exon3:c.C245T:p.P82L,IL37:NM_014439:exon4:c.C323T:p.P108L 0.076 0.17 0.059 0.001 0.08 0.029 0.0721 0.1713 0.0404 0.0001 0.0727 0.0801 0.0727 0.0341 0.11 0.17 0.08 0.11 0.074 rs2723187 COSM3757586;COSM3757585 1(large_intestine) . . . . . . . . . . . 0.119 0.346 T 1.0 0.899 D 0.961 0.688 D 0.215 0.163 N 1 0.090 P 2.485 0.726 M 1.66 0.275 T -7.21 0.959 D 0.124 0.172 -1.094 0.049 T 0.000 0.002 T . . . 2.688 0.384 20.7 0.974 0.332 0.012 0.044 N c -0.349 -0.636 0.001 0.074 0.516 0.203 0 0.218 0.145 -0.283 0.084 0.786 0.318 0.000 0.063 0.007 0.100 2.793 0.050 . ENSG00000227368.1 Skin_Sun_Exposed_Lower_leg 0.0680 0.1703 0.0417 0.0689 0.0002 0.0686 0.0820 0.0631 0.0324 0.1006 0.1738 0.0537 0.0728 0 0.0730 0.0802 0.0745 het 3182.42 236 2 113675269 . C T 3182.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.986;DP=236;DS;Dels=0.00;FS=2.727;HRun=0;HaplotypeScore=5.9069;MQ=59.29;MQ0=0;MQRankSum=-0.426;QD=13.48;ReadPosRankSum=-0.985;VQSLOD=4.8711;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,108:236:99:3212,0,3226 2 113676219 113676219 T C exonic IL37 nonsynonymous SNV IL37:NM_173203:exon3:c.T307C:p.W103R,IL37:NM_173202:exon4:c.T427C:p.W143R,IL37:NM_173204:exon4:c.T370C:p.W124R,IL37:NM_173205:exon4:c.T412C:p.W138R,IL37:NM_014439:exon5:c.T490C:p.W164R 0.077 0.17 0.059 0.003 0.082 0.029 0.0712 0.1714 0.0407 0.0001 0.0728 0.0798 0.0716 0.0315 0.11 0.17 0.08 0.12 0.074 rs2708947 . . . . . . . . . . . . . 0.488 0.106 T 0.0 0.026 B 0.0 0.013 B 0.038 0.018 N 1 0.090 P -1.61 0.004 N 2.41 0.155 T 1.82 0.005 N 0.006 0.000 -1.002 0.293 T 0.000 0.000 T . . . -1.753 0.012 0.002 0.294 0.016 0.001 0.006 N c -2.035 -2.105 0.971 0.292 0.487 0.133 0 -7.62 0.011 -5.551 0.001 -0.658 0.040 0.000 0.063 0.009 0.108 1.197 0.017 . ENSG00000227368.1 Skin_Sun_Exposed_Lower_leg 0.0681 0.1712 0.0423 0.0685 0.0001 0.0688 0.0821 0.0635 0.0324 0.1005 0.1734 0.0537 0.0728 0 0.0733 0.0801 0.0745 het 519.60 61 2 113676219 . T C 519.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.812;DP=61;Dels=0.00;FS=3.594;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.317;QD=8.52;ReadPosRankSum=0.052;VQSLOD=5.8982;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,24:61:99:550,0,1034 2 113676381 113676381 G A exonic IL37 nonsynonymous SNV IL37:NM_173203:exon3:c.G469A:p.D157N,IL37:NM_173202:exon4:c.G589A:p.D197N,IL37:NM_173204:exon4:c.G532A:p.D178N,IL37:NM_173205:exon4:c.G574A:p.D192N,IL37:NM_014439:exon5:c.G652A:p.D218N 0.076 0.17 0.059 0.001 0.08 0.029 0.0719 0.1725 0.0405 0.0001 0.0726 0.0802 0.0724 0.0330 0.11 0.17 0.08 0.12 0.066 rs2723192 . . . . . . . . . . . . . 0.1 0.367 T 0.759 0.539 P 0.162 0.463 B 0.340 0.042 N 1 0.090 P 0.895 0.225 L 2.48 0.210 T -0.67 0.206 N 0.015 0.002 -1.048 0.148 T 0.000 0.000 T . . . 4.069 0.546 23.7 0.990 0.494 0.009 0.036 N c -0.663 -0.798 0.021 0.133 0.487 0.133 0 1.2 0.201 -0.118 0.106 0.726 0.305 0.000 0.063 0.026 0.142 5.076 0.139 . ENSG00000227368.1 Skin_Sun_Exposed_Lower_leg 0.0679 0.1705 0.0418 0.0688 0.0001 0.0687 0.0820 0.0629 0.0325 0.1005 0.1731 0.0537 0.0728 0 0.0733 0.0803 0.0743 het 1008.58 96 2 113676381 . G A 1008.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.621;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.69;MQ0=0;MQRankSum=-0.180;QD=10.51;ReadPosRankSum=0.849;VQSLOD=6.9457;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,44:96:99:1039,0,1287 2 113763575 113763575 A G exonic IL36A nonsynonymous SNV IL36A:NM_014440:exon2:c.A35G:p.Q12R 0.84 0.76 0.82 0.99 0.72 0.93 0.7869 0.7642 0.8593 0.9933 0.7893 0.7203 0.7878 0.9100 0.72 0.77 0.7 0.83 0.7 rs895497 COSM441014 1(liver) . . . . . . . . . . . 0.353 0.122 T 0.0 0.026 B 0.0 0.013 B 0.001 0.007 N 1 0.090 P 0.115 0.086 N 2.29 0.171 T -0.24 0.108 N 0.011 0.002 -0.993 0.318 T 0.000 0.000 T . . . -2.568 0.003 0.001 0.215 0.008 0.003 0.018 N c -2.522 -2.556 0.939 0.273 0.487 0.133 0 -7.62 0.011 -2.492 0.010 -2.731 0.002 0.000 0.063 0.000 0.016 0.754 0.009 . ENSG00000136696.6 Skin_Sun_Exposed_Lower_leg 0.7872 0.7640 0.8553 0.7227 0.9922 0.7830 0.7123 0.7666 0.9092 0.7553 0.7638 0.8401 0.7433 0.9950 0.7977 0.7099 0.7597 het 1976.13 196 2 113763575 . A G 1976.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.216;DP=196;Dels=0.00;FS=0.543;HRun=4;HaplotypeScore=5.2071;MQ=59.15;MQ0=0;MQRankSum=0.346;QD=10.08;ReadPosRankSum=1.015;VQSLOD=5.4399;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,81:196:99:2006,0,3068 2 113832312 113832312 T C exonic IL1F10 nonsynonymous SNV IL1F10:NM_032556:exon3:c.T131C:p.I44T,IL1F10:NM_173161:exon4:c.T131C:p.I44T 0.52 0.58 0.58 0.18 0.61 0.67 0.5642 0.5850 0.5626 0.1671 0.5553 0.5838 0.5363 0.6858 0.58 0.58 0.59 0.59 0.59 rs6761276 COSM5002053;COSM5002052 1(pancreas) . . . . . . . . . . . 0.036 0.433 D 0.728 0.406 P 0.297 0.392 B 0.017 0.278 N 0.769 0.294 P 2.325 0.668 M 1.92 0.231 T -2.44 0.534 N 0.073 0.062 -0.961 0.390 T 0.000 0.000 T . . . 3.486 0.477 23.1 0.994 0.618 0.241 0.221 N c -0.222 -0.169 0.880 0.256 0.497 0.185 0 3.93 0.445 1.036 0.296 1.061 0.807 0.047 0.211 0.983 0.502 7.900 0.287 . ENSG00000136696.6|ENSG00000136694.8|ENSG00000136695.10|ENSG00000125637.11|ENSG00000136696.6|ENSG00000136689.14 Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5612 0.5845 0.5630 0.5699 0.1689 0.5512 0.5830 0.5802 0.6897 0.5390 0.5787 0.5931 0.5667 0.1619 0.5513 0.5500 0.5438 het 2717.45 201 2 113832312 . T C 2717.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.771;DP=201;DS;Dels=0.00;FS=7.429;HRun=0;HaplotypeScore=9.0354;MQ=58.66;MQ0=0;MQRankSum=-0.920;QD=13.52;ReadPosRankSum=-1.389;VQSLOD=3.3429;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,101:201:99:2747,0,2645 2 113832333 113832333 C A exonic IL1F10 nonsynonymous SNV IL1F10:NM_032556:exon3:c.C152A:p.A51D,IL1F10:NM_173161:exon4:c.C152A:p.A51D 0.73 0.73 0.71 0.68 0.69 0.8 0.6931 0.7423 0.7302 0.6945 0.6540 0.6591 0.6828 0.7890 0.68 0.73 0.66 0.78 0.62 rs6743376 COSM5447929;COSM5447930 1(large_intestine) . . . . . Inflammatory biomarkers . .13 24182552 rs6743376 2E-26 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.175 0.173 N 1.000 0.090 P -2.48 0.001 N 2.36 0.161 T 3.17 0.001 N 0.031 0.018 -0.994 0.316 T 0.000 0.000 T . . . 1.268 0.217 12.10 0.451 0.035 0.026 0.071 N c -0.942 -0.654 0.749 0.233 0.497 0.185 0 3.91 0.442 2.127 0.414 0.242 0.267 0.939 0.324 0.977 0.480 5.787 0.175 . ENSG00000136696.6|ENSG00000136694.8|ENSG00000136695.10|ENSG00000136696.6 Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.6944 0.7456 0.7335 0.7104 0.6956 0.6507 0.6548 0.7085 0.7937 0.6634 0.7392 0.7410 0.6722 0.6884 0.6495 0.6170 0.6385 het 2218.42 181 2 113832333 . C A 2218.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.219;DP=181;DS;Dels=0.00;FS=10.301;HRun=0;HaplotypeScore=9.0120;MQ=58.96;MQ0=0;MQRankSum=-0.131;QD=12.26;ReadPosRankSum=1.299;VQSLOD=3.4484;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:95,85:181:99:2248,0,2494 2 113940681 113940681 T C exonic PSD4 synonymous SNV PSD4:NM_012455:exon2:c.T648C:p.S216S 0.58 0.74 0.52 0.6 0.44 0.5 0.4877 0.7003 0.5036 0.6134 0.5655 0.4248 0.5078 0.4984 0.5 0.69 0.41 0.64 0.43 rs3748914 COSM441019 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4809 0.7012 0.4969 0.3610 0.6109 0.5613 0.4154 0.4744 0.4980 0.5284 0.6928 0.5048 0.3867 0.5963 0.5680 0.4218 0.5071 het 784.47 73 2 113940681 . T C 784.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.947;DP=73;Dels=0.00;FS=2.145;HRun=0;HaplotypeScore=3.7587;MQ=58.53;MQ0=0;MQRankSum=-0.207;QD=10.75;ReadPosRankSum=-2.226;VQSLOD=4.5592;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,30:73:99:814,0,1255 2 113940839 113940839 G C exonic PSD4 nonsynonymous SNV PSD4:NM_012455:exon2:c.G806C:p.G269A 0.52 0.53 0.5 0.6 0.44 0.51 0.4705 0.5200 0.4954 0.6109 0.5638 0.4237 0.5011 0.4979 0.44 0.5 0.41 0.61 0.43 rs4849167 COSM4133014 1(thyroid) . . . . . . . . . . . 0.052 0.586 T 0.753 0.414 P 0.241 0.369 B 0.099 0.199 N 1.000 0.182 P 1.65 0.424 L 2.76 0.122 T -1.57 0.379 N 0.07 0.088 -1.014 0.256 T 0.000 0.000 T . . . 1.727 0.269 14.56 0.992 0.548 0.162 0.191 N c -0.587 -0.634 1.000 0.409 0.646 0.442 0 0.861 0.181 -0.134 0.103 0.135 0.219 0.013 0.187 0.782 0.331 5.162 0.143 . ENSG00000125618.12|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125618.12|ENSG00000125637.11|ENSG00000189223.9|ENSG00000125637.11|ENSG00000189223.9|ENSG00000189223.9|ENSG00000125618.12|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000189223.9|ENSG00000125618.12|ENSG00000125637.11|ENSG00000189223.9|ENSG00000125637.11|ENSG00000189223.9|ENSG00000125618.12|ENSG00000125637.11|ENSG00000125637.11|ENSG00000189223.9|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Vagina|Whole_Blood 0.4672 0.5188 0.4872 0.3583 0.6084 0.5608 0.4148 0.4677 0.4974 0.4775 0.5153 0.4916 0.3808 0.5958 0.5679 0.4213 0.5010 het 1653.82 125 2 113940839 . G C 1653.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.137;DP=125;Dels=0.00;FS=5.648;HRun=0;HaplotypeScore=2.9835;MQ=58.96;MQ0=0;MQRankSum=1.056;QD=13.23;ReadPosRankSum=-0.571;VQSLOD=5.3678;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,66:125:99:1684,0,1621 2 113943470 113943470 A G exonic PSD4 synonymous SNV PSD4:NM_012455:exon5:c.A1266G:p.G422G 0.58 0.74 0.52 0.6 0.45 0.51 0.5293 0.7130 0.5660 0.6365 0.6138 0.4711 0.5426 0.5264 0.51 0.69 0.42 0.66 0.16 rs2241976 COSM4133015 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4898 0.7017 0.5117 0.3670 0.6077 0.5792 0.4259 0.4841 0.5018 0.5384 0.6958 0.5239 0.3841 0.5916 0.5888 0.4341 0.5224 het 274.94 27 2 113943470 . A G 274.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.048;DP=27;Dels=0.00;FS=1.485;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.271;QD=10.18;ReadPosRankSum=-0.025;VQSLOD=6.0960;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,11:27:99:305,0,416 2 114709419 114709419 G A exonic ACTR3 synonymous SNV ACTR3:NM_001277140:exon10:c.G921A:p.L307L,ACTR3:NM_005721:exon10:c.G1074A:p.L358L 0.011 0.0008 0.022 . 0.035 0.0061 0.0282 0.0054 0.0190 0.0001 0.0372 0.0422 0.0396 0.0030 0.028 0.0075 0.039 0.011 0.025 rs34493552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0278 0.0050 0.0181 0.0383 5.798e-05 0.0402 0.0414 0.0335 0.0029 0.0311 0.0086 0.0286 0.0331 0 0.0441 0.0440 0.0397 het 545.32 59 2 114709419 . G A 545.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.741;DP=59;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=57.82;MQ0=0;MQRankSum=0.405;QD=9.24;ReadPosRankSum=0.664;VQSLOD=6.3424;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,26:59:99:575,0,812 2 116510817 116510817 G C exonic DPP10 nonsynonymous SNV DPP10:NM_001321913:exon9:c.G256C:p.A86P,DPP10:NM_001321909:exon10:c.G901C:p.A301P,DPP10:NM_001004360:exon11:c.G997C:p.A333P,DPP10:NM_001178034:exon11:c.G1030C:p.A344P,DPP10:NM_001178037:exon11:c.G1006C:p.A336P,DPP10:NM_001321907:exon11:c.G1018C:p.A340P,DPP10:NM_001321908:exon11:c.G928C:p.A310P,DPP10:NM_001321911:exon11:c.G868C:p.A290P,DPP10:NM_001321914:exon11:c.G256C:p.A86P,DPP10:NM_020868:exon11:c.G1018C:p.A340P,DPP10:NM_001178036:exon12:c.G868C:p.A290P,DPP10:NM_001321905:exon12:c.G1069C:p.A357P,DPP10:NM_001321906:exon12:c.G997C:p.A333P,DPP10:NM_001321910:exon12:c.G868C:p.A290P,DPP10:NM_001321912:exon12:c.G868C:p.A290P 0.53 0.16 0.73 0.73 0.63 0.58 0.6108 0.2205 0.7890 0.7197 0.7753 0.6154 0.6159 0.5907 0.48 0.23 0.61 0.45 0.61 rs2053724 . . . . . . . . . . . . . 0.498 0.114 T 0.01 0.182 B 0.002 0.104 B 0.002 0.367 N 1.000 0.199 P 0.49 0.133 N 1.6 0.286 T -2.15 0.540 N 0.063 0.048 -1.037 0.181 T 0.000 0.000 T . . . 2.363 0.345 18.58 0.977 0.350 0.502 0.284 D c -0.451 -0.297 0.000 0.012 0.638 0.428 0 3.2 0.357 2.114 0.413 0.067 0.174 1.000 0.715 0.994 0.587 17.145 0.866 Dipeptidylpeptidase IV\x2c N-terminal domain . . 0.6265 0.2092 0.7745 0.5965 0.7282 0.7656 0.6082 0.6254 0.5919 0.5364 0.2206 0.7236 0.5695 0.7344 0.7701 0.6261 0.6506 hom 2551.46 82 2 116510817 . G C 2551.46 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=31.12;VQSLOD=8.8759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2584,199,0 2 116525960 116525960 G A exonic DPP10 nonsynonymous SNV DPP10:NM_001321913:exon11:c.G439A:p.V147I,DPP10:NM_001321907:exon12:c.G1162A:p.V388I,DPP10:NM_001321909:exon12:c.G1084A:p.V362I,DPP10:NM_001004360:exon13:c.G1180A:p.V394I,DPP10:NM_001178034:exon13:c.G1213A:p.V405I,DPP10:NM_001178037:exon13:c.G1189A:p.V397I,DPP10:NM_001321908:exon13:c.G1111A:p.V371I,DPP10:NM_001321911:exon13:c.G1051A:p.V351I,DPP10:NM_001321914:exon13:c.G439A:p.V147I,DPP10:NM_020868:exon13:c.G1201A:p.V401I,DPP10:NM_001178036:exon14:c.G1051A:p.V351I,DPP10:NM_001321905:exon14:c.G1252A:p.V418I,DPP10:NM_001321906:exon14:c.G1180A:p.V394I,DPP10:NM_001321910:exon14:c.G1051A:p.V351I,DPP10:NM_001321912:exon14:c.G1051A:p.V351I 0.97 0.89 0.99 1. 1. 1. 0.9917 0.9087 0.9965 1 1 0.9998 0.9956 0.9999 0.97 0.91 1. 0.97 0.99 rs1446495 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.000 0.843 N 1.000 0.206 P -1.72 0.003 N 1.81 0.252 T 0.93 0.016 N 0.047 0.256 -0.957 0.398 T 0.000 0.000 T . . . 2.108 0.314 16.91 0.321 0.018 0.109 0.161 N c -0.713 -0.388 0.003 0.096 0.638 0.428 0 5.25 0.731 6.529 0.735 0.168 0.246 1.000 0.715 1.000 0.888 10.236 0.423 Dipeptidylpeptidase IV\x2c N-terminal domain . . 0.9934 0.9052 0.9963 1 1 1 0.9998 0.9973 0.9998 0.9748 0.9115 0.9964 1 1 1 0.9999 0.9959 hom 1766.72 64 2 116525960 . G A 1766.72 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=58.76;MQ0=0;QD=27.60;VQSLOD=7.6030;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1800,135,0 2 118578824 118578824 A G exonic DDX18 nonsynonymous SNV DDX18:NM_006773:exon4:c.A602G:p.N201S 0.0004 . . . 0.002 . 0.0007 0.0005 0.0005 0 0.0002 0.0011 0.0011 0 0.0012 0.0005 0.0015 . . rs41279756 . . . . . . . . . . . . . 0.726 0.038 T 0.0 0.026 B 0.0 0.013 B 0.005 0.334 N 0.938 0.268 N -0.33 0.035 N 4.61 0.019 T -0.89 0.240 N 0.045 0.025 -0.929 0.443 T 0.007 0.024 T 0.002 0.040 T 0.655 0.157 8.533 0.961 0.280 0.923 0.551 D c -0.346 -0.201 0.996 0.346 0.707 0.730 0 2.56 0.297 3.640 0.538 0.223 0.255 1.000 0.715 0.989 0.536 8.783 0.338 Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase|RNA helicase\x2c DEAD-box type\x2c Q motif . . 0.0007 0.0004 0.0008 0 0 0.0003 0.0012 0.0017 0 0.0008 0.0002 0.0012 0 0 0.0006 0.0012 0.0031 het 1493.43 80 2 118578824 . A G 1493.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.814;DP=80;Dels=0.00;FS=0.897;HRun=0;HaplotypeScore=1.7873;MQ=58.91;MQ0=0;MQRankSum=-0.180;QD=18.67;ReadPosRankSum=0.110;VQSLOD=4.9199;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,51:80:99:1523,0,697 2 118583940 118583940 C T exonic DDX18 synonymous SNV DDX18:NM_006773:exon11:c.C1617T:p.R539R 0.3 0.038 0.32 0.53 0.38 0.34 0.3657 0.0934 0.2983 0.5323 0.4076 0.3991 0.4139 0.3377 0.3 0.11 0.39 0.28 0.38 rs2303348 COSM3757595 1(bone);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3656 0.0812 0.3008 0.3326 0.5410 0.4203 0.3990 0.3697 0.3284 0.3037 0.0867 0.2873 0.34 0.5211 0.4064 0.3793 0.3614 hom 1392.72 45 2 118583940 . C T 1392.72 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9997;MQ=59.49;MQ0=0;QD=30.95;VQSLOD=8.8937;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1426,111,0 2 118771566 118771566 C A exonic CCDC93 synonymous SNV CCDC93:NM_019044:exon1:c.G6T:p.G2G 0.32 0.49 0.24 0.14 0.35 0.31 0.3494 0.4596 0.2668 0.1652 0.2989 0.3687 0.3472 0.3335 0.36 0.42 0.33 0.28 0.14 rs11545372 COSM1129600 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2876 0.4177 0.1785 0.3703 0.1225 0.2204 0.3304 0.3136 0.3058 0.3366 0.4253 0.2170 0.3146 0.1381 0.2349 0.3402 0.2969 hom 270.09 10 2 118771566 . C A 270.09 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.01;VQSLOD=13.0377;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:303,24,0 2 119915249 119915249 T C exonic C1QL2 synonymous SNV C1QL2:NM_182528:exon1:c.A597G:p.V199V 0.59 0.58 0.77 0.36 0.71 0.57 0.6894 0.6033 0.7862 0.3743 0.6447 0.7445 0.6767 0.6358 0.71 0.62 0.75 0.63 0.75 rs7556873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6907 0.6028 0.7770 0.6489 0.3697 0.6512 0.7528 0.6931 0.6367 0.6817 0.6103 0.7458 0.6225 0.3905 0.6433 0.7599 0.7010 hom 2441.44 74 2 119915249 . T C 2441.44 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8661;MQ=59.38;MQ0=0;QD=32.99;VQSLOD=9.1285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2474,193,0 2 120060082 120060082 T C exonic C2orf76 nonsynonymous SNV C2orf76:NM_001322332:exon5:c.A296G:p.K99R,C2orf76:NM_001322330:exon6:c.A347G:p.K116R,C2orf76:NM_001322331:exon6:c.A347G:p.K116R,C2orf76:NM_001017927:exon7:c.A347G:p.K116R,C2orf76:NM_001322329:exon7:c.A347G:p.K116R 0.66 0.92 0.6 0.43 0.65 0.62 0.6632 0.8927 0.6147 0.4220 0.7488 0.6654 0.6481 0.6442 0.72 0.88 0.65 0.74 0.52 rs1052500 COSM4001160 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.553 0.065 T 0.0 0.026 B 0.0 0.013 B 0.028 0.257 N 0.998 0.222 P 0.41 0.124 N 1.52 0.307 T -0.51 0.160 N 0.09 0.088 -1.004 0.286 T 0.000 0.000 T . . . 0.399 0.132 6.603 0.905 0.192 0.590 0.305 D c -0.516 -0.346 0.758 0.235 0.706 0.609 0 1.12 0.196 0.887 0.277 1.061 0.807 1.000 0.715 0.999 0.750 9.049 0.353 . ENSG00000229867.1|ENSG00000115107.15|ENSG00000186132.10|ENSG00000229867.1|ENSG00000115107.15|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Esophagus_Mucosa|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6518 0.8880 0.6050 0.6250 0.4124 0.7592 0.6524 0.6491 0.6393 0.7223 0.8834 0.6348 0.6060 0.4491 0.7606 0.6578 0.6977 hom 1382.69 50 2 120060082 . T C 1382.69 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.49;MQ0=0;QD=27.65;VQSLOD=8.5050;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1416,102,0 2 120078778 120078778 T C exonic C2orf76 nonsynonymous SNV C2orf76:NM_001322330:exon3:c.A136G:p.I46V,C2orf76:NM_001322331:exon3:c.A136G:p.I46V,C2orf76:NM_001017927:exon4:c.A136G:p.I46V,C2orf76:NM_001322329:exon4:c.A136G:p.I46V 0.66 0.84 0.59 0.44 0.65 0.68 0.6640 0.8144 0.6129 0.4322 0.7503 0.6690 0.6567 0.6770 0.7 0.8 0.66 0.73 0.63 rs1132267 COSM441051 1(large_intestine) . . . . . . . . . . . 0.725 0.043 T 0.004 0.112 B 0.016 0.166 B 0.023 0.265 N 1 0.090 P -0.325 0.035 N 1.42 0.332 T -0.15 0.093 N 0.119 0.132 -1.008 0.274 T 0.000 0.000 T . . . -0.354 0.065 0.499 0.763 0.110 0.003 0.015 N c -1.287 -1.261 0.057 0.151 0.706 0.609 0 -2.9 0.053 -1.234 0.030 -0.399 0.062 0.046 0.210 0.990 0.544 11.409 0.490 . ENSG00000229867.1|ENSG00000115107.15|ENSG00000186132.10|ENSG00000229867.1|ENSG00000115107.15|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000229867.1|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6543 0.8072 0.5935 0.6167 0.4143 0.7599 0.6562 0.65 0.6709 0.7008 0.8009 0.6337 0.6060 0.4597 0.7591 0.6608 0.6990 hom 1581.30 56 2 120078778 . T C 1581.30 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=28.24;VQSLOD=7.9420;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1614,120,0 2 120129841 120129841 A G exonic DBI nonsynonymous SNV DBI:NM_001079862:exon4:c.A211G:p.M71V,DBI:NM_001079863:exon4:c.A214G:p.M72V,DBI:NM_001178017:exon4:c.A394G:p.M132V,DBI:NM_001178043:exon4:c.A241G:p.M81V,DBI:NM_001282636:exon4:c.A139G:p.M47V,DBI:NM_001178041:exon5:c.A337G:p.M113V,DBI:NM_001178042:exon5:c.A262G:p.M88V,DBI:NM_001282633:exon5:c.A262G:p.M88V,DBI:NM_001282634:exon5:c.A262G:p.M88V,DBI:NM_001282635:exon5:c.A262G:p.M88V,DBI:NM_020548:exon5:c.A262G:p.M88V 0.009 0.0008 0.02 . 0.026 0.0041 0.0250 0.0055 0.0139 0 0.0191 0.0384 0.0220 0.0071 0.026 0.0054 0.036 0.011 0.041 rs8192506 COSM3766503;COSM3766502;COSM3766501 1(soft_tissue);1(liver) . . . . . . . . . . . 0.112 0.386 T 0.05 0.245 B 0.036 0.286 B 0.000 0.843 D 0.997 0.486 D . . . 1.79 0.255 T -2.38 0.563 N 0.196 0.309 -0.957 0.397 T 0.038 0.166 T . . . 3.382 0.465 23.0 0.985 0.416 0.923 0.552 D c 0.211 0.257 0.860 0.252 0.707 0.730 0 4.39 0.520 3.777 0.548 1.199 0.960 1.000 0.715 1.000 0.888 8.181 0.303 Acyl-CoA-binding protein\x2c ACBP|FERM/acyl-CoA-binding protein\x2c 3-helical bundle . . 0.0247 0.0053 0.0132 0.0438 0 0.0209 0.0383 0.0279 0.0074 0.0219 0.0065 0.0131 0.0430 0 0.0203 0.0332 0.0295 het 2194.46 190 2 120129841 . A G 2194.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.471;DP=190;Dels=0.00;FS=1.789;HRun=0;HaplotypeScore=3.9954;MQ=59.14;MQ0=1;MQRankSum=0.694;QD=11.55;ReadPosRankSum=-0.971;VQSLOD=5.7569;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,89:190:99:2224,0,2524 2 120194651 120194651 - GTGTGC exonic TMEM37 nonframeshift insertion TMEM37:NM_183240:exon2:c.208_209insGTGTGC:p.T70delinsSVP 0.9 0.97 0.84 0.89 0.87 0.86 0.8633 0.9571 0.7713 0.8840 0.8237 0.8661 0.8579 0.8623 0.88 0.95 0.85 0.9 0.76 rs3217464 COSM112142 1(ovary);23(upper_aerodigestive_tract);1(large_intestine);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8585 0.9600 0.7808 0.8934 0.8849 0.8233 0.8667 0.8619 0.8621 0.8832 0.9613 0.7764 0.9195 0.8745 0.8267 0.8583 0.8637 het 5500.66 138 2 120194651 . A AGTGTGC 5500.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.694;DP=138;DS;FS=3.688;HRun=0;HaplotypeScore=689.4120;MQ=50.02;MQ0=0;MQRankSum=-8.689;QD=39.86;ReadPosRankSum=0.869;set=variant2 GT:AD:DP:GQ:PL 0/1:94,39:138:99:5501,0,5537 2 120199140 120199140 A G exonic SCTR synonymous SNV SCTR:NM_002980:exon12:c.T1176C:p.N392N 0.87 0.84 0.83 0.91 0.87 0.9 0.8640 0.8398 0.7702 0.9106 0.8432 0.8736 0.8525 0.8902 0.86 0.84 0.87 0.9 0.8 rs1126839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8591 0.8412 0.7750 0.8969 0.9093 0.8410 0.8712 0.8626 0.8884 0.8572 0.8493 0.7649 0.9272 0.8957 0.8416 0.8644 0.8673 het 473.53 51 2 120199140 . A G 473.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.683;DP=51;Dels=0.00;FS=1.083;HRun=0;HaplotypeScore=0.7887;MQ=59.55;MQ0=0;MQRankSum=0.561;QD=9.28;ReadPosRankSum=-1.512;VQSLOD=6.2432;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,22:51:99:504,0,696 2 120369300 120369300 T C exonic CFAP221 synonymous SNV CFAP221:NM_001271049:exon13:c.T1293C:p.V431V 0.98 0.95 0.99 0.99 1. 1. 0.9951 0.9564 0.9978 0.9902 1 0.9996 0.9989 0.9998 0.99 0.96 1. 0.97 1. rs10864986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9956 0.9539 0.9972 0.9976 0.9886 1 0.9997 0.9965 0.9999 0.9863 0.9549 0.9964 1 0.9858 1 0.9999 0.9980 hom 1394.18 51 2 120369300 . T C 1394.18 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.09;MQ0=0;QD=27.34;VQSLOD=7.8012;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1427,120,0 2 120388412 120388412 G A exonic CFAP221 nonsynonymous SNV CFAP221:NM_001271049:exon19:c.G1909A:p.V637I 0.98 0.92 0.99 0.99 1. 1. 0.9926 0.9293 0.9966 0.9902 1 0.9995 0.9967 0.9998 0.98 0.93 1. 0.96 1. rs2272058 . . . . . . . . . . . . . 0.613 0.054 T 0.0 0.026 B 0.0 0.040 B 0.873 0.072 N 1 0.090 P -0.145 0.044 N 1.59 0.288 T -0.03 0.075 N 0.011 0.092 -1.032 0.197 T 0.000 0.000 T . . . -2.262 0.005 0.001 0.252 0.011 0.004 0.021 N c -2.095 -2.132 0.998 0.362 0.554 0.283 0 -8.37 0.009 -0.331 0.079 -2.785 0.002 0.001 0.137 0.000 0.016 10.788 0.454 . . . 0.9938 0.9272 0.9962 0.9976 0.9886 1 0.9997 0.9960 0.9998 0.9793 0.9303 0.9952 1 0.9858 1 0.9999 0.9949 hom 7943.32 249 2 120388412 . G A 7943.32 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5486;MQ=59.23;MQ0=0;QD=31.90;VQSLOD=9.2154;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7942,623,0 2 120438523 120438523 A G exonic TMEM177 nonsynonymous SNV TMEM177:NM_001105198:exon2:c.A94G:p.I32V,TMEM177:NM_001105199:exon2:c.A94G:p.I32V,TMEM177:NM_030577:exon2:c.A94G:p.I32V 0.78 0.6 0.83 0.83 0.84 0.86 0.8300 0.6273 0.8794 0.8106 0.8714 0.8439 0.8326 0.8603 0.77 0.63 0.84 0.79 0.8 rs13011768 . . . . . . . . . . . . . 0.348 0.127 T 0.001 0.067 B 0.002 0.063 B 0.099 0.200 N 0.908 0.275 P 1.62 0.416 L 2.3 0.170 T -0.09 0.160 N 0.034 0.028 -1.035 0.189 T 0.000 0.000 T . . . -0.799 0.040 0.043 0.538 0.049 0.232 0.218 N c -0.921 -0.904 1.000 0.747 0.707 0.730 0 1.37 0.211 0.077 0.145 1.187 0.908 0.114 0.229 0.012 0.117 6.110 0.192 . ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hippocampus|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Liver|Nerve_Tibial 0.8343 0.6254 0.8717 0.7894 0.8099 0.8717 0.8451 0.8314 0.8598 0.7920 0.6445 0.8437 0.8245 0.8150 0.8648 0.8507 0.8520 hom 6293.24 191 2 120438523 . A G 6293.24 Mask AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9714;MQ=58.73;MQ0=0;QD=32.95;VQSLOD=8.0626;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:6292,490,0 2 120438696 120438696 A G exonic TMEM177 synonymous SNV TMEM177:NM_001105198:exon2:c.A267G:p.Q89Q,TMEM177:NM_001105199:exon2:c.A267G:p.Q89Q,TMEM177:NM_030577:exon2:c.A267G:p.Q89Q 0.98 0.93 0.99 1. 1. 1. 0.9942 0.9364 0.9971 1 1 1.0000 0.9967 1 0.98 0.94 1. 0.98 0.98 rs939777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9954 0.9345 0.9968 1 1 1 1.0000 0.9967 1.0000 0.9823 0.9377 0.9976 1 1 1 0.9999 0.9990 hom 8657.71 250 2 120438696 . A G 8657.71 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3882;MQ=59.20;MQ0=0;QD=34.63;VQSLOD=4.1382;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8657,695,0 2 120439230 120439230 C G exonic TMEM177 nonsynonymous SNV TMEM177:NM_001105198:exon2:c.C801G:p.D267E,TMEM177:NM_001105199:exon2:c.C801G:p.D267E,TMEM177:NM_030577:exon2:c.C801G:p.D267E 0.78 0.6 0.83 0.83 0.84 0.86 0.8300 0.6278 0.8791 0.8109 0.8712 0.8438 0.8326 0.8602 0.77 0.63 0.84 0.8 0.8 rs1983406 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.841 0.070 N 1 0.439 P -0.895 0.014 N 1.07 0.396 T 0.57 0.026 N 0.007 0.000 -1.054 0.134 T 0.000 0.000 T . . . -2.729 0.002 0.001 0.228 0.009 0.038 0.090 N c -2.595 -2.651 1.000 0.747 0.732 0.924 0 -9.21 0.006 -1.939 0.016 -3.354 0.001 0.000 0.063 0.005 0.090 3.875 0.085 . ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hippocampus|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Liver|Nerve_Tibial 0.8342 0.6255 0.8713 0.7896 0.8098 0.8718 0.8448 0.8315 0.8596 0.7914 0.6438 0.8437 0.8245 0.8160 0.8651 0.8499 0.8514 hom 4353.13 126 2 120439230 . C G 4353.13 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.9993;MQ=59.49;MQ0=0;QD=34.55;VQSLOD=9.7422;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4353,343,0 2 120885310 120885310 G A exonic EPB41L5 nonsynonymous SNV EPB41L5:NM_001184937:exon17:c.G1384A:p.A462T,EPB41L5:NM_001330310:exon17:c.G1384A:p.A462T,EPB41L5:NM_020909:exon17:c.G1384A:p.A462T 0.59 0.38 0.66 0.67 0.73 0.6 0.6719 0.4369 0.6177 0.7101 0.6749 0.7266 0.6949 0.6144 0.63 0.45 0.72 0.65 0.69 rs1034489 COSM3757600 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.021 0.269 N 1.000 0.090 P -1.685 0.004 N -1.31 0.798 T 1.02 0.014 N 0.107 0.114 -0.933 0.437 T 0.000 0.000 T . . . 0.077 0.101 3.368 0.079 0.001 0.027 0.072 N c -1.207 -0.968 0.000 0.054 0.706 0.609 0 1.73 0.235 1.004 0.292 0.244 0.267 0.998 0.411 0.448 0.262 7.206 0.249 . ENSG00000226479.3|ENSG00000115109.9|ENSG00000226479.3|ENSG00000226479.3|ENSG00000115109.9|ENSG00000226479.3 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Cells_Transformed_fibroblasts|Muscle_Skeletal|Testis 0.6774 0.4327 0.6317 0.8234 0.7078 0.6770 0.7228 0.7160 0.6134 0.6259 0.4402 0.6289 0.8676 0.7250 0.6805 0.7016 0.6814 het 2245.18 195 2 120885310 . G A 2245.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.728;DP=195;Dels=0.00;FS=3.296;HRun=2;HaplotypeScore=4.9505;MQ=58.58;MQ0=0;MQRankSum=-0.022;QD=11.51;ReadPosRankSum=1.465;VQSLOD=5.0005;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,92:195:99:2275,0,2768 2 121036333 121036333 G A exonic RALB synonymous SNV RALB:NM_002881:exon2:c.G93A:p.T31T 0.044 0.0008 0.063 0.003 0.11 0.068 0.0820 0.0169 0.0471 0.0006 0.1072 0.1068 0.0794 0.0812 0.079 0.02 0.11 0.011 0.11 rs11545293 COSM5021315;COSM5021316 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0808 0.0151 0.0507 0.0628 0.0004 0.1055 0.1097 0.0759 0.0691 0.0778 0.0174 0.0632 0.0828 0.0006 0.0971 0.1160 0.1012 het 687.83 65 2 121036333 . G A 687.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.380;DP=65;Dels=0.00;FS=6.963;HRun=0;HaplotypeScore=1.8936;MQ=59.07;MQ0=0;MQRankSum=1.100;QD=10.58;ReadPosRankSum=-0.436;VQSLOD=4.7619;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,29:65:99:718,0,961 2 121726447 121726447 G A exonic GLI2 synonymous SNV GLI2:NM_005270:exon5:c.G801A:p.S267S 0.83 0.41 0.94 1. 0.98 0.98 0.9401 0.4730 0.9636 0.9997 0.9949 0.9851 0.9634 0.9791 0.81 0.47 0.98 0.76 0.96 rs2592595 . . Benign|Benign not_specified|Holoprosencephaly RCV000247010.1|RCV000346541.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . 0.994 0.019 T 0.006 0.126 B 0.01 0.139 B . . . 0.000 0.588 P . . . . . . 0.91 0.016 N . . -0.987 0.334 T 0.000 0.000 T . . . 0.628 0.154 8.346 0.857 0.155 0.018 0.055 N c -1.906 -2.042 1.000 0.747 0.745 0.986 0 -9.82 0.004 -5.923 0.001 -1.312 0.013 0.000 0.063 0.535 0.277 9.206 0.363 . . . 0.9498 0.4620 0.9636 0.9690 0.9999 0.9950 0.9857 0.9571 0.9788 0.8415 0.4716 0.9582 0.9570 0.9988 0.9954 0.9864 0.9633 hom 2885.99 89 2 121726447 . G A 2885.99 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=59.79;MQ0=0;QD=32.43;VQSLOD=8.9454;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2919,226,0 2 121746956 121746956 G T exonic GLI2 nonsynonymous SNV GLI2:NM_005270:exon13:c.G3466T:p.A1156S 0.51 0.36 0.58 0.47 0.72 0.48 0.6296 0.4046 0.5558 0.4746 0.6601 0.7231 0.6475 0.5149 0.62 0.41 0.73 0.56 0.69 rs3738880 . . Benign|Benign not_specified|Holoprosencephaly RCV000081284.5|RCV000273393.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . 0.515 0.074 T 0.156 0.292 B 0.018 0.250 B 0.609 0.109 N 1 0.090 P 1.65 0.424 L 2.53 0.140 T -0.66 0.191 N 0.025 0.007 -1.041 0.170 T 0.000 0.000 T . . . -0.059 0.088 2.058 0.789 0.121 0.122 0.169 N c -0.796 -0.820 0.738 0.231 0.696 0.567 0 0.039 0.135 -0.106 0.108 0.134 0.217 0.000 0.063 0.049 0.163 6.810 0.228 . . . 0.6323 0.3936 0.5711 0.6680 0.4643 0.6746 0.7280 0.6651 0.5197 0.6086 0.4041 0.5730 0.6589 0.4901 0.6738 0.7230 0.6582 hom 2032.28 71 2 121746956 . G T 2032.28 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.47;MQ0=0;QD=28.62;VQSLOD=8.6745;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2065,162,0 2 121747406 121747406 G A exonic GLI2 nonsynonymous SNV GLI2:NM_005270:exon13:c.G3916A:p.D1306N 0.57 0.57 0.6 0.47 0.72 0.48 0.6464 0.5826 0.5638 0.4738 0.6595 0.7227 0.6595 0.5240 0.68 0.58 0.73 0.3 0.67 rs12711538 COSM3757603 1(pancreas);2(large_intestine) Benign|Benign not_specified|Holoprosencephaly RCV000081285.5|RCV000340352.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.454 0.125 N 1 0.090 P -1.545 0.005 N 2.6 0.132 T 1.9 0.005 N 0.003 0.000 -1.028 0.210 T 0.000 0.000 T . . . -0.401 0.061 0.385 0.250 0.011 0.004 0.020 N c -1.314 -1.179 0.974 0.294 0.696 0.567 0 2.13 0.263 2.133 0.415 -0.216 0.099 0.032 0.204 0.005 0.090 9.052 0.354 . . . 0.6450 0.5764 0.5790 0.6721 0.4635 0.6738 0.7271 0.6701 0.5255 0.6592 0.5805 0.5883 0.6623 0.4870 0.6745 0.7234 0.6701 hom 1862.23 57 2 121747406 . G A 1862.23 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=32.67;VQSLOD=9.8139;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1895,150,0 2 121747429 121747429 A G exonic GLI2 synonymous SNV GLI2:NM_005270:exon13:c.A3939G:p.P1313P 0.51 0.36 0.59 0.48 0.73 0.48 0.6344 0.4062 0.5559 0.4840 0.6663 0.7275 0.6518 0.5230 0.62 0.41 0.73 0.36 0.64 rs10167980 COSM3721935 1(upper_aerodigestive_tract) Benign|Benign not_specified|Holoprosencephaly RCV000081286.5|RCV000287111.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6365 0.3938 0.5723 0.6711 0.4741 0.6809 0.7324 0.6659 0.5254 0.6130 0.4068 0.5728 0.6623 0.4981 0.6808 0.7277 0.6615 hom 1642.37 56 2 121747429 . A G 1642.37 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4073;MQ=57.91;MQ0=0;QD=29.33;VQSLOD=6.6538;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,54:56:99:1675,138,0 2 121989489 121989489 G A exonic TFCP2L1 synonymous SNV TFCP2L1:NM_014553:exon13:c.C1254T:p.I418I 0.32 0.073 0.41 0.35 0.5 0.37 0.4446 0.1298 0.3657 0.3754 0.4915 0.5251 0.4481 0.3893 0.4 0.14 0.53 0.23 0.49 rs2304667 COSM3757604 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4472 0.1190 0.3669 0.5034 0.3784 0.4997 0.5267 0.4721 0.3886 0.4027 0.1381 0.3720 0.4901 0.4090 0.4914 0.5309 0.4784 hom 5297.78 171 2 121989489 . G A 5297.78 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2153;MQ=58.73;MQ0=0;QD=30.98;VQSLOD=6.8119;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,170:171:99:5261,406,0 2 125192068 125192068 T C exonic CNTNAP5 synonymous SNV CNTNAP5:NM_130773:exon5:c.T537C:p.D179D 0.82 0.68 0.85 0.86 0.96 0.82 0.9018 0.7182 0.7815 0.8914 0.9542 0.9624 0.9020 0.8343 0.89 0.72 0.97 0.83 . rs1425745 COSM4001161 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9000 0.7171 0.7890 0.9488 0.8922 0.9554 0.9617 0.9149 0.8344 0.8892 0.7298 0.8134 0.9338 0.8906 0.9559 0.9670 0.9277 hom 4797.62 159 2 125192068 . T C 4797.62 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=59.24;MQ0=0;QD=30.17;VQSLOD=9.0069;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4797,373,0 2 127453664 127453664 A C exonic GYPC synonymous SNV GYPC:NM_016815:exon3:c.A276C:p.G92G,GYPC:NM_002101:exon4:c.A333C:p.G111G,GYPC:NM_001256584:exon5:c.A270C:p.G90G 0.61 0.75 0.57 0.68 0.55 0.47 0.5554 0.7015 0.4724 0.6650 0.5518 0.5617 0.5619 0.4395 0.6 0.69 0.55 0.73 0.53 rs1050967 COSM4133042 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5490 0.7027 0.4811 0.5494 0.6642 0.5540 0.5598 0.5533 0.4387 0.5916 0.6987 0.4785 0.5397 0.6731 0.5442 0.5426 0.5326 het 2741.92 213 2 127453664 . A C 2741.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.472;DP=213;Dels=0.00;FS=0.695;HRun=0;HaplotypeScore=12.8432;MQ=59.17;MQ0=0;MQRankSum=-1.337;QD=12.87;ReadPosRankSum=0.243;VQSLOD=2.5675;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,118:213:99:2772,0,2682 2 127953054 127953054 A C exonic CYP27C1 synonymous SNV CYP27C1:NM_001001665:exon5:c.T576G:p.T192T 0.28 0.46 0.15 0.11 0.27 0.3 0.2697 0.4421 0.1257 0.1145 0.2806 0.2714 0.2854 0.3307 0.33 0.44 0.28 0.38 0.25 rs7568070 COSM148938 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2609 0.4468 0.1353 0.2561 0.1189 0.2755 0.2728 0.2561 0.3339 0.3156 0.4513 0.1516 0.2583 0.1327 0.2832 0.2748 0.3092 het 816.23 88 2 127953054 . A C 816.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.542;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.38;MQ0=0;MQRankSum=0.693;QD=9.28;ReadPosRankSum=-0.659;VQSLOD=6.5104;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,37:88:99:846,0,1477 2 128079806 128079806 A G exonic MAP3K2 synonymous SNV MAP3K2:NM_006609:exon11:c.T861C:p.A287A 0.21 0.27 0.17 0.018 0.28 0.27 0.2661 0.2651 0.1476 0.0127 0.2590 0.3104 0.2872 0.3029 0.3 0.26 0.31 0.3 . rs3732209 COSM3757613;COSM3757612 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2570 0.2576 0.1477 0.3382 0.0125 0.2615 0.3061 0.2718 0.3034 0.2629 0.2567 0.1551 0.3444 0.0142 0.2565 0.2962 0.3119 hom 1017.26 36 2 128079806 . A G 1017.26 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=28.26;VQSLOD=8.5818;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:78.26:1050,78,0 2 128184770 128184770 T C exonic PROC synonymous SNV PROC:NM_000312:exon8:c.T768C:p.D256D 0.23 0.35 0.21 0.001 0.31 0.24 0.2828 0.3309 0.1652 0.0024 0.2828 0.3330 0.3076 0.2778 0.32 0.32 0.33 0.29 0.25 rs5937 COSM4133050 1(thyroid) Benign|Likely benign not_specified|Thrombophilia\x2c_hereditary\x2c_due_to_protein_C_deficiency\x2c_autosomal_dominant RCV000241792.1|RCV000280967.1 MedGen|MedGen:OMIM CN169374|C2674321:176860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2734 0.3256 0.1678 0.3465 0.0022 0.2848 0.3281 0.2913 0.2832 0.2951 0.3274 0.1770 0.3567 0.0018 0.2847 0.3135 0.3326 hom 3093.44 99 2 128184770 . T C 3093.44 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.25;VQSLOD=13.8527;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3126,277,0 2 128321770 128321770 G A exonic MYO7B nonsynonymous SNV MYO7B:NM_001080527:exon3:c.G61A:p.G21S 0.4 0.14 0.58 0.55 0.48 0.36 0.5234 0.2578 0.7096 0.6185 0.5387 0.5641 0.5333 0.4005 0.4 0.19 0.5 0.28 . rs2404991 COSM4999950;COSM4999951 1(pancreas) . . . . . . . . . . . 0.37 0.115 T 0.027 0.182 B 0.007 0.121 B 0.424 0.047 N 1 0.090 P 0.29 0.101 N -2.19 0.868 D 0.36 0.037 N 0.01 0.001 -1.030 0.204 T 0.000 0.000 T . . . 0.310 0.124 5.794 0.839 0.145 0.087 0.144 N c -1.189 -1.163 1.000 0.747 0.497 0.185 0 -0.284 0.122 0.546 0.228 0.133 0.217 0.000 0.063 0.048 0.163 10.527 0.440 . ENSG00000144230.12|ENSG00000236682.1|ENSG00000236682.1|ENSG00000144230.12|ENSG00000236682.1|ENSG00000144230.12|ENSG00000144230.12|ENSG00000236682.1|ENSG00000169994.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.4836 0.1747 0.6675 0.5247 0.5497 0.4649 0.4892 0.4856 0.3656 0.4121 0.1776 0.6435 0.4967 0.5550 0.4585 0.5038 0.4724 het 259.93 17 2 128321770 . G A 259.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DP=17;Dels=0.00;FS=4.598;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.433;QD=15.29;ReadPosRankSum=1.203;VQSLOD=5.6316;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,9:17:99:290,0,195 2 128400608 128400608 C T exonic LIMS2 synonymous SNV LIMS2:NM_001161403:exon5:c.G399A:p.K133K,LIMS2:NM_001161404:exon5:c.G384A:p.K128K,LIMS2:NM_017980:exon5:c.G471A:p.K157K,LIMS2:NM_001136037:exon6:c.G465A:p.K155K 0.55 0.47 0.65 0.71 0.54 0.4 0.6034 0.5236 0.7768 0.7394 0.6175 0.6057 0.5930 0.4761 0.51 0.46 0.53 0.53 0.25 rs4662751 COSM3766509 1(breast);1(urinary_tract);1(liver) Benign not_specified RCV000244901.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5563 0.4642 0.7298 0.6021 0.6944 0.5276 0.5226 0.5473 0.4449 0.5231 0.4634 0.7069 0.5993 0.6920 0.5289 0.5260 0.5287 het 216.12 14 2 128400608 . C T 216.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.212;QD=15.44;ReadPosRankSum=0.071;VQSLOD=11.8567;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,10:14:89.37:246,0,89 2 128870808 128870808 T C exonic UGGT1 synonymous SNV UGGT1:NM_020120:exon6:c.T672C:p.N224N 0.82 0.65 0.9 0.85 0.98 0.8 0.9205 0.7140 0.9376 0.8361 0.9788 0.9761 0.9481 0.8323 0.89 0.73 0.97 0.77 0.95 rs4662775 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9274 0.7115 0.9393 0.9744 0.8364 0.9799 0.9770 0.9451 0.8352 0.8962 0.7234 0.9379 0.9868 0.8370 0.9759 0.9768 0.9469 hom 1325.01 41 2 128870808 . T C 1325.01 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.31;MQ0=0;QD=32.32;VQSLOD=8.5622;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1358,105,0 2 128878014 128878014 G A exonic UGGT1 synonymous SNV UGGT1:NM_020120:exon9:c.G957A:p.K319K 0.83 0.7 0.91 0.85 0.98 0.8 0.9237 0.7450 0.9395 0.8382 0.9788 0.9762 0.9482 0.8341 0.9 0.75 0.97 0.77 0.98 rs4662594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9300 0.7451 0.9408 0.9743 0.8384 0.9799 0.9772 0.9467 0.8365 0.9054 0.7550 0.9388 0.9868 0.8381 0.9759 0.9771 0.9521 hom 7208.20 230 2 128878014 . G A 7208.20 Mask AC=2;AF=1.00;AN=2;DP=230;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.3662;MQ=58.99;MQ0=0;QD=31.34;VQSLOD=9.4907;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7208,551,0 2 130925088 130925088 C T exonic SMPD4 synonymous SNV SMPD4:NM_001171083:exon7:c.G633A:p.T211T,SMPD4:NM_017751:exon9:c.G852A:p.T284T,SMPD4:NM_017951:exon9:c.G852A:p.T284T 0.36 0.21 0.44 0.44 0.34 0.44 0.3787 0.2600 0.4287 0.4648 0.3745 0.3723 0.3775 0.4011 0.33 0.26 0.36 0.41 0.37 rs10909567 COSM4418795 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3779 0.2497 0.4282 0.2786 0.4629 0.3831 0.3690 0.3738 0.3997 0.3438 0.2566 0.4185 0.2616 0.4757 0.3820 0.3676 0.3654 het 1363.09 98 2 130925088 . C T 1363.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.811;DP=98;Dels=0.00;FS=6.917;HRun=0;HaplotypeScore=1.9937;MQ=57.48;MQ0=0;MQRankSum=1.088;QD=13.91;ReadPosRankSum=0.433;VQSLOD=3.7208;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,55:98:99:1393,0,980 2 131487673 131487673 A C exonic GPR148 nonsynonymous SNV GPR148:NM_207364:exon1:c.A949C:p.T317P 0.95 0.97 0.95 1. 0.92 0.94 0.9345 0.9650 0.9332 0.9990 0.8904 0.9218 0.9202 0.9528 0.94 0.96 0.93 0.97 0.93 rs272128 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.999 0.221 P -2.135 0.001 N 2.52 0.142 T 3.2 0.001 N 0.068 0.055 -0.990 0.327 T 0.000 0.000 T . . . 0.082 0.102 3.420 0.123 0.002 0.003 0.014 N c -0.918 -0.784 0.186 0.179 0.497 0.185 0 3.31 0.369 2.146 0.416 -0.146 0.109 0.830 0.299 0.049 0.163 9.867 0.401 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9334 0.9667 0.9319 0.9007 0.9988 0.8933 0.9250 0.9283 0.9524 0.9360 0.9630 0.9427 0.8907 0.9988 0.8915 0.9254 0.9196 hom 4480.47 129 2 131487673 . A C 4480.47 Mask AC=2;AF=1.00;AN=2;DP=129;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2932;MQ=59.50;MQ0=0;QD=34.73;VQSLOD=8.6426;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4480,355,0 2 131520663 131520663 T C exonic AMER3 nonsynonymous SNV AMER3:NM_001105193:exon2:c.T1018C:p.S340P,AMER3:NM_001105194:exon2:c.T1018C:p.S340P,AMER3:NM_001105195:exon2:c.T1018C:p.S340P,AMER3:NM_152698:exon2:c.T1018C:p.S340P 0.99 1. 0.99 1. 0.97 1. 0.9802 0.9933 0.9892 0.9999 0.9888 0.9694 0.9821 0.9955 0.98 0.99 0.97 1. 0.95 rs1905235 COSM3757623 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.958 0.077 N 1 0.090 P -1.69 0.004 N 2.23 0.181 T 0.71 0.021 N 0.015 0.002 -0.987 0.333 T 0.000 0.000 T . . . -2.664 0.002 0.001 0.080 0.001 0.004 0.019 N c -1.995 -1.885 0.091 0.161 0.497 0.185 0 0.659 0.170 -0.104 0.108 -1.154 0.017 0.000 0.063 0.001 0.043 2.498 0.043 . . . 0.9804 0.9950 0.9876 0.9667 0.9999 0.9879 0.9687 0.9782 0.9958 0.9816 0.9925 0.9833 0.9834 1 0.9880 0.9715 0.9817 hom 2665.74 83 2 131520663 . T C 2665.74 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=32.12;VQSLOD=9.3967;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2699,214,0 2 131802045 131802045 C T exonic ARHGEF4 synonymous SNV ARHGEF4:NM_032995:exon11:c.C1773T:p.P591P,ARHGEF4:NM_015320:exon12:c.C1773T:p.P591P 0.18 0.28 0.12 0.13 0.11 0.23 0.2040 0.2597 0.1533 0.1875 0.2083 0.1511 0.1931 0.2517 0.16 0.24 0.11 0.21 0.09 rs10928515 COSM3757629;COSM441127;COSM3757628 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1486 0.2642 0.0916 0.1861 0.1590 0.1064 0.1188 0.1337 0.2578 0.1614 0.2629 0.1002 0.1490 0.1696 0.1090 0.1194 0.1306 het 224.48 10 2 131802045 . C T 224.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.898;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9997;MQ=60.00;MQ0=0;MQRankSum=1.733;QD=22.45;ReadPosRankSum=-0.480;VQSLOD=5.9661;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:2,8:10:37.71:254,0,38 2 132241704 132241704 C T exonic MZT2A nonsynonymous SNV MZT2A:NM_001085365:exon3:c.G407A:p.R136H 0.17 0.46 0.1 0.004 0.092 0.064 0.1020 0.4285 0.0570 0.0030 0.0568 0.0864 0.0783 0.0745 0.2 0.4 0.091 0.25 0.066 rs11553182 . . . . . . . . . . . . . 0.026 0.469 D 0.072 0.225 B 0.012 0.149 B 0.000 0.629 D 0.002 0.445 P 1.845 0.488 L 0.85 0.471 T -2.71 0.577 D 0.171 0.207 -0.932 0.438 T 0.000 0.000 T . . . 3.118 0.434 22.6 0.999 0.942 0.698 0.340 D c -0.305 -0.298 0.051 0.149 0.707 0.730 0 2.4 0.284 3.887 0.557 0.548 0.283 1.000 0.715 0.306 0.238 10.509 0.438 . ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000075886.10|ENSG00000173272.9|ENSG00000173272.9|ENSG00000197927.8|ENSG00000173272.9|ENSG00000173272.9|ENSG00000163040.10|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000163040.10|ENSG00000075886.10|ENSG00000173272.9|ENSG00000197927.8|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.0944 0.4299 0.0565 0.0766 0.0031 0.0545 0.0887 0.0905 0.0767 0.1683 0.4215 0.0742 0.0795 0.0062 0.0538 0.0783 0.0808 het 1384.52 154 2 132241704 . C T 1384.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.544;DP=154;Dels=0.00;FS=0.623;HRun=0;HaplotypeScore=3.9400;MQ=59.08;MQ0=1;MQRankSum=-1.063;QD=8.99;ReadPosRankSum=0.239;VQSLOD=4.7483;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,58:154:99:1415,0,2440 2 132241731 132241731 T C exonic MZT2A nonsynonymous SNV MZT2A:NM_001085365:exon3:c.A380G:p.H127R 0.17 0.46 0.1 0.004 0.092 0.064 0.1023 0.4270 0.0568 0.0030 0.0569 0.0861 0.0778 0.0746 0.2 0.41 0.092 0.26 0.066 rs75021268 COSM3757632 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.090 P -2.585 0.000 N 2.26 0.176 T 2.73 0.002 N 0.012 0.001 -0.936 0.433 T 0.000 0.000 T . . . -2.102 0.007 0.001 0.344 0.021 0.022 0.063 N c -1.613 -1.484 0.001 0.073 0.707 0.730 0 1.32 0.208 2.186 0.420 -0.239 0.092 0.906 0.313 0.029 0.146 6.272 0.200 . ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000075886.10|ENSG00000173272.9|ENSG00000173272.9|ENSG00000197927.8|ENSG00000173272.9|ENSG00000173272.9|ENSG00000163040.10|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000163040.10|ENSG00000075886.10|ENSG00000173272.9|ENSG00000197927.8|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.0945 0.4306 0.0566 0.0764 0.0031 0.0545 0.0887 0.0905 0.0767 0.1684 0.4215 0.0742 0.0795 0.0062 0.0538 0.0784 0.0804 het 1689.44 152 2 132241731 . T C 1689.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.096;DP=152;Dels=0.00;FS=9.977;HRun=0;HaplotypeScore=5.9504;MQ=59.43;MQ0=0;MQRankSum=-1.571;QD=11.11;ReadPosRankSum=-1.545;VQSLOD=2.4856;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:84,68:152:99:1719,0,2264 2 133489601 133489601 A G exonic NCKAP5 synonymous SNV NCKAP5:NM_207481:exon15:c.T1195C:p.L399L,NCKAP5:NM_207363:exon17:c.T5152C:p.L1718L 0.16 0.049 0.15 0.1 0.26 0.25 0.2383 0.0851 0.1434 0.1148 0.2271 0.2801 0.2679 0.2900 0.21 0.08 0.27 0.16 . rs56284623 COSM3757635;COSM3757634 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2258 0.0792 0.1419 0.2546 0.1116 0.2208 0.2746 0.2362 0.2719 0.2072 0.0859 0.1480 0.2219 0.1326 0.2115 0.2867 0.2312 het 678.70 47 2 133489601 . A G 678.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.032;DP=47;Dels=0.00;FS=8.221;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=0.674;QD=14.44;ReadPosRankSum=0.460;VQSLOD=3.9247;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,26:47:99:709,0,546 2 133539566 133539566 G A exonic NCKAP5 synonymous SNV NCKAP5:NM_207363:exon14:c.C4818T:p.H1606H 0.54 0.5 0.48 0.74 0.47 0.48 0.5073 0.5060 0.4906 0.7571 0.4020 0.4997 0.5167 0.4614 0.51 0.53 0.5 0.62 . rs6730282 COSM3757636 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5043 0.5060 0.4814 0.5364 0.7638 0.4061 0.4991 0.4956 0.4643 0.5003 0.5161 0.5048 0.5298 0.7701 0.3935 0.4880 0.4691 het 1826.67 162 2 133539566 . G A 1826.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.617;DP=162;Dels=0.00;FS=1.245;HRun=0;HaplotypeScore=3.8205;MQ=59.63;MQ0=0;MQRankSum=1.599;QD=11.28;ReadPosRankSum=-0.475;VQSLOD=5.8755;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:89,73:162:99:1857,0,2423 2 133541107 133541107 T A exonic NCKAP5 nonsynonymous SNV NCKAP5:NM_207363:exon14:c.A3277T:p.N1093Y 0.18 0.045 0.19 0.25 0.23 0.23 0.2190 0.0694 0.1834 0.3050 0.1311 0.2382 0.2388 0.2456 0.18 0.07 0.24 0.2 . rs16841277 COSM3757637 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.008 0.586 D 0.969 0.548 D 0.558 0.477 P 0.662 0.104 U 1 0.090 P 2.3 0.659 M 2.74 0.117 T -2.18 0.491 N 0.091 0.089 -0.912 0.466 T 0.000 0.000 T . . . 3.499 0.478 23.1 0.989 0.471 0.259 0.226 N c -0.348 -0.458 0.001 0.074 0.554 0.246 0 3.01 0.337 0.822 0.268 1.061 0.807 0.001 0.137 0.483 0.268 8.714 0.334 . . . 0.2159 0.0680 0.1738 0.2707 0.3149 0.1362 0.2375 0.2216 0.2405 0.1847 0.0749 0.1814 0.2682 0.3263 0.1381 0.2413 0.2096 het 3157.94 249 2 133541107 . T A 3157.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.965;DP=249;DS;Dels=0.00;FS=1.039;HRun=0;HaplotypeScore=7.2754;MQ=58.83;MQ0=0;MQRankSum=-1.320;QD=12.68;ReadPosRankSum=-0.374;VQSLOD=3.5827;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,120:249:99:3188,0,3658 2 133541444 133541444 T C exonic NCKAP5 synonymous SNV NCKAP5:NM_207363:exon14:c.A2940G:p.P980P 0.72 0.85 0.67 0.87 0.52 0.61 0.6114 0.8207 0.7210 0.8856 0.4861 0.5390 0.5957 0.5992 0.63 0.82 0.54 0.78 . rs12691829 COSM3757638 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6081 0.8244 0.6882 0.5546 0.8886 0.4951 0.5338 0.5721 0.5929 0.6295 0.8216 0.6806 0.5403 0.8752 0.4825 0.5288 0.5657 het 665.96 45 2 133541444 . T C 665.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.758;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5810;MQ=59.49;MQ0=0;MQRankSum=1.160;QD=14.80;ReadPosRankSum=-1.505;VQSLOD=5.7670;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,26:45:99:696,0,485 2 133541454 133541454 A G exonic NCKAP5 nonsynonymous SNV NCKAP5:NM_207363:exon14:c.T2930C:p.I977T 0.7 0.83 0.67 0.87 0.49 0.61 0.5910 0.8049 0.7115 0.8856 0.4427 0.5139 0.5694 0.5924 0.61 0.8 0.52 0.77 . rs12691830 COSM1399445 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.923 0.023 T 0.0 0.026 B 0.0 0.013 B 0.216 0.162 N 1 0.357 P -1.59 0.004 N 3.01 0.091 T 1.15 0.012 N 0.002 0.000 -1.029 0.206 T 0.000 0.000 T . . . -1.562 0.015 0.002 0.256 0.012 0.002 0.010 N c -1.311 -1.210 0.019 0.131 0.554 0.246 0 4.16 0.480 1.462 0.347 -0.321 0.076 0.051 0.212 0.064 0.173 10.811 0.456 . . . 0.5883 0.8097 0.6808 0.5518 0.8894 0.4519 0.5089 0.5500 0.5843 0.6056 0.8047 0.6722 0.54 0.8759 0.4395 0.5020 0.5279 het 688.41 43 2 133541454 . A G 688.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.450;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;MQRankSum=-0.603;QD=16.01;ReadPosRankSum=-1.539;VQSLOD=6.5483;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,25:43:99:718,0,423 2 133542014 133542014 T C exonic NCKAP5 synonymous SNV NCKAP5:NM_207363:exon14:c.A2370G:p.A790A 0.71 0.83 0.67 0.87 0.51 0.61 0.6003 0.8033 0.7237 0.8835 0.4484 0.5274 0.5916 0.5999 0.61 0.8 0.53 0.78 . rs12616282 COSM3757639 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5952 0.8102 0.7005 0.5617 0.8865 0.4547 0.5244 0.5693 0.5835 0.6141 0.8099 0.6778 0.5464 0.8727 0.4425 0.5151 0.5348 het 1725.86 148 2 133542014 . T C 1725.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.896;DP=148;DS;Dels=0.00;FS=1.360;HRun=0;HaplotypeScore=6.7128;MQ=58.80;MQ0=0;MQRankSum=0.464;QD=11.66;ReadPosRankSum=1.213;VQSLOD=4.6190;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,71:148:99:1756,0,2124 2 133542574 133542574 C T exonic NCKAP5 nonsynonymous SNV NCKAP5:NM_207363:exon14:c.G1810A:p.V604M 0.18 0.051 0.18 0.25 0.22 0.23 0.2182 0.0763 0.1806 0.3060 0.1302 0.2367 0.2377 0.2423 0.18 0.074 0.24 0.2 . rs61995744 COSM3757640 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.369 0.116 T 0.001 0.067 B 0.002 0.063 B 0.702 0.101 U 1 0.588 P 0.755 0.192 N 0.96 0.429 T 0.67 0.023 N 0.027 0.011 -1.044 0.162 T 0.000 0.000 T . . . -2.395 0.004 0.001 0.723 0.096 0.031 0.079 N c -2.245 -2.313 0.998 0.358 0.554 0.246 0 -9.81 0.004 -0.148 0.101 -2.954 0.001 0.006 0.172 0.000 0.016 3.269 0.064 . . . 0.2154 0.0759 0.1720 0.2730 0.3155 0.1349 0.2361 0.2194 0.2407 0.1861 0.0835 0.1782 0.2715 0.3280 0.1377 0.2394 0.2047 het 995.37 75 2 133542574 . C T 995.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.377;DP=75;Dels=0.00;FS=1.070;HRun=0;HaplotypeScore=0.8941;MQ=59.50;MQ0=0;MQRankSum=1.874;QD=13.27;ReadPosRankSum=1.460;VQSLOD=5.6747;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,35:75:99:1025,0,1070 2 133554288 133554288 A G exonic NCKAP5 synonymous SNV NCKAP5:NM_207363:exon12:c.T822C:p.R274R,NCKAP5:NM_207481:exon12:c.T822C:p.R274R 0.69 0.71 0.67 0.89 0.54 0.62 0.6214 0.7096 0.7301 0.9019 0.5071 0.5654 0.6227 0.6141 0.6 0.71 0.55 0.73 . rs1868076 COSM3757642;COSM3757641 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6094 0.7067 0.7021 0.5980 0.9035 0.5031 0.5480 0.5933 0.6005 0.6066 0.7077 0.6787 0.59 0.8897 0.4923 0.5428 0.5707 het 588.38 41 2 133554288 . A G 588.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.354;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;MQRankSum=-0.441;QD=14.35;ReadPosRankSum=2.045;VQSLOD=5.9549;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,25:41:99:618,0,382 2 135711516 135711516 C T exonic CCNT2 synonymous SNV CCNT2:NM_001241:exon9:c.C1491T:p.D497D,CCNT2:NM_058241:exon9:c.C1491T:p.D497D,CCNT2:NM_001320748:exon10:c.C1059T:p.D353D,CCNT2:NM_001320749:exon10:c.C966T:p.D322D 0.73 0.77 0.64 0.88 0.55 0.79 0.5894 0.7286 0.6744 0.8755 0.4733 0.4936 0.6556 0.7226 0.55 0.71 0.47 0.76 0.38 rs3814355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5907 0.7289 0.6815 0.8098 0.8723 0.4658 0.4691 0.6197 0.7212 0.5767 0.7197 0.6782 0.8676 0.8812 0.4641 0.4785 0.5307 hom 1409.41 44 2 135711516 . C T 1409.41 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=32.03;VQSLOD=9.6483;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1442,120,0 2 135711657 135711657 G A exonic CCNT2 synonymous SNV CCNT2:NM_001241:exon9:c.G1632A:p.K544K,CCNT2:NM_058241:exon9:c.G1632A:p.K544K,CCNT2:NM_001320748:exon10:c.G1200A:p.K400K,CCNT2:NM_001320749:exon10:c.G1107A:p.K369K 0.7 0.66 0.62 0.88 0.55 0.79 0.5800 0.6434 0.6666 0.8755 0.4731 0.4916 0.6520 0.7200 0.53 0.64 0.47 0.75 0.41 rs3814354 COSM1179790 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5832 0.6433 0.6742 0.8069 0.8722 0.4660 0.4679 0.6120 0.7185 0.5498 0.6310 0.6699 0.8676 0.8821 0.4618 0.4760 0.5204 hom 5287.73 172 2 135711657 . G A 5287.73 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9920;MQ=59.16;MQ0=0;QD=30.74;VQSLOD=9.4102;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5287,406,0 2 135745129 135745129 G A exonic MAP3K19 nonsynonymous SNV MAP3K19:NM_001018044:exon5:c.C974T:p.T325I,MAP3K19:NM_001321177:exon7:c.C1364T:p.T455I,MAP3K19:NM_025052:exon7:c.C1313T:p.T438I 0.13 0.042 0.23 0.12 0.2 0.13 0.1567 0.0586 0.1977 0.1204 0.1567 0.1694 0.1795 0.1559 0.13 0.064 0.16 0.11 0.15 rs16831235 COSM4417452 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.007 0.614 D 0.85 0.510 P 0.325 0.459 B 0.059 0.224 N 1 0.261 P 1.975 0.537 M -0.53 0.708 T -2.02 0.563 N 0.076 0.112 -1.094 0.049 T 0.000 0.001 T . . . 2.684 0.384 20.7 0.998 0.855 0.683 0.335 D c -0.138 -0.200 0.002 0.088 0.487 0.133 0 2.11 0.262 1.805 0.383 0.045 0.158 0.084 0.222 0.034 0.151 8.471 0.320 . . . 0.1595 0.0576 0.1968 0.2366 0.1184 0.1525 0.1622 0.1841 0.1589 0.1363 0.0634 0.1897 0.2351 0.1244 0.1546 0.1687 0.1680 het 1721.34 144 2 135745129 . G A 1721.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.059;DP=144;Dels=0.00;FS=1.330;HRun=1;HaplotypeScore=2.6566;MQ=59.70;MQ0=0;MQRankSum=-0.350;QD=11.95;ReadPosRankSum=-0.474;VQSLOD=6.5426;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,68:144:99:1751,0,2146 2 135893372 135893372 A G exonic RAB3GAP1 nonsynonymous SNV RAB3GAP1:NM_001172435:exon17:c.A1793G:p.N598S,RAB3GAP1:NM_012233:exon17:c.A1793G:p.N598S 0.21 0.02 0.2 0.39 0.19 0.33 0.2008 0.0347 0.2610 0.3854 0.1553 0.1722 0.2638 0.2967 0.11 0.031 0.15 0.18 0.098 rs10445686 COSM4417435;COSM4417434 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Warburg_micro_syndrome RCV000118091.3|RCV000307086.1 MedGen|MedGen:Orphanet CN169374|CN158709:ORPHA2510 . . . . . . 0.264 0.241 T 0.001 0.067 B 0.001 0.040 B 0.001 0.391 N 0.542 0.314 P 0.915 0.234 L 0.96 0.429 T -0.6 0.178 N 0.005 0.006 -0.957 0.397 T 0.000 0.000 T . . . 0.676 0.158 8.668 0.978 0.357 0.748 0.363 D c -0.306 -0.066 0.094 0.162 0.707 0.730 0 4.26 0.497 5.028 0.637 1.140 0.893 1.000 0.715 1.000 0.888 8.060 0.296 . ENSG00000115866.6 Thyroid 0.2042 0.0329 0.2479 0.3994 0.3904 0.1445 0.1533 0.2501 0.2948 0.1404 0.0358 0.2470 0.4570 0.3793 0.1476 0.1588 0.1843 het 1287.81 100 2 135893372 . A G 1287.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.533;DP=100;Dels=0.00;FS=8.606;HRun=0;HaplotypeScore=2.7966;MQ=59.05;MQ0=0;MQRankSum=1.325;QD=12.88;ReadPosRankSum=-0.594;VQSLOD=4.8320;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,45:100:99:1318,0,1476 2 135911422 135911422 T C exonic RAB3GAP1 synonymous SNV RAB3GAP1:NM_001172435:exon19:c.T2265C:p.F755F,RAB3GAP1:NM_012233:exon19:c.T2265C:p.F755F 0.79 0.97 0.65 1. 0.41 0.8 0.5174 0.8723 0.7425 0.9984 0.3183 0.3369 0.5375 0.6912 0.49 0.85 0.31 0.81 0.26 rs17261772 . . other|Benign not_specified|Warburg_micro_syndrome RCV000118094.3|RCV000356679.1 MedGen|MedGen:Orphanet CN169374|CN158709:ORPHA2510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5175 0.8820 0.7263 0.7179 0.9986 0.3122 0.3057 0.5373 0.6867 0.5266 0.8656 0.6998 0.7351 0.9988 0.3162 0.3187 0.4470 het 852.38 78 2 135911422 . T C 852.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.401;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.32;MQ0=0;MQRankSum=-0.448;QD=10.93;ReadPosRankSum=0.096;VQSLOD=6.4368;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,34:78:99:882,0,1193 2 136393658 136393658 A G exonic R3HDM1 nonsynonymous SNV R3HDM1:NM_001282800:exon8:c.A640G:p.M214V,R3HDM1:NM_001282799:exon9:c.A676G:p.M226V,R3HDM1:NM_001282798:exon11:c.A808G:p.M270V,R3HDM1:NM_015361:exon11:c.A808G:p.M270V 0.31 0.25 0.27 0.47 0.23 0.33 0.2402 0.2082 0.3140 0.4547 0.1759 0.1922 0.3 0.3128 0.18 0.2 0.18 0.3 0.11 rs961360 COSM3757643 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.328 0.264 T 0.006 0.500 B 0.022 0.670 B 0.000 0.491 D 0.011 0.409 P 0.69 0.170 N 1.04 0.402 T -0.57 0.172 N 0.11 0.301 -0.894 0.486 T 0.000 0.000 T . . . 0.994 0.189 10.63 0.907 0.194 0.996 0.982 D c 0.268 0.408 0.868 0.253 0.732 0.924 0 5.58 0.843 6.969 0.757 1.199 0.960 1.000 0.715 0.999 0.750 16.033 0.803 R3H domain;SUZ domain ENSG00000115866.6|ENSG00000115866.6|ENSG00000115866.6 Lung|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.2423 0.2064 0.3038 0.4647 0.4623 0.1660 0.1704 0.2837 0.3071 0.1994 0.1901 0.2895 0.4867 0.4409 0.1674 0.1742 0.2187 het 1667.86 141 2 136393658 . A G 1667.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.039;DP=141;Dels=0.00;FS=5.859;HRun=1;HaplotypeScore=2.8573;MQ=59.91;MQ0=0;MQRankSum=-0.253;QD=11.83;ReadPosRankSum=-1.467;VQSLOD=4.8158;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,67:141:99:1698,0,1906 2 136511817 136511817 A G exonic UBXN4 synonymous SNV UBXN4:NM_014607:exon4:c.A303G:p.E101E 0.2 0.17 0.21 0.19 0.21 0.23 0.1846 0.1462 0.1833 0.1730 0.1423 0.1855 0.2333 0.2251 0.16 0.14 0.17 0.22 0.13 rs1050115 COSM1129561 1(breast);2(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1854 0.1434 0.1828 0.4444 0.1784 0.1352 0.1666 0.2415 0.2249 0.1582 0.1317 0.1938 0.4834 0.1897 0.1359 0.1652 0.1844 het 3137.07 237 2 136511817 . A G 3137.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.801;DP=237;Dels=0.00;FS=3.619;HRun=0;HaplotypeScore=1.6006;MQ=58.91;MQ0=0;MQRankSum=0.332;QD=13.24;ReadPosRankSum=-0.505;VQSLOD=6.3618;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:117,119:237:99:3167,0,3081 2 136546110 136546110 A G exonic LCT synonymous SNV LCT:NM_002299:exon17:c.T5568C:p.A1856A 0.44 0.29 0.48 0.44 0.66 0.4 0.6215 0.3853 0.5114 0.4403 0.7399 0.7288 0.5958 0.4622 0.63 0.39 0.75 0.39 0.8 rs2278544 COSM4001189 1(haematopoietic_and_lymphoid_tissue) Benign|Benign Congenital_lactase_deficiency|Lactose_intolerance RCV000280698.1|RCV000378034.1 MedGen:OMIM:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen C0268179:223000:ORPHA53690:5388008|HP:0004789:C0022951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6226 0.3771 0.5187 0.4236 0.4428 0.7479 0.7529 0.5881 0.4662 0.6141 0.3845 0.5418 0.3874 0.4235 0.7437 0.7441 0.65 het 2293.76 165 2 136546110 . A G 2293.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.094;DP=165;DS;Dels=0.00;FS=5.567;HRun=1;HaplotypeScore=5.5888;MQ=59.32;MQ0=0;MQRankSum=1.436;QD=13.90;ReadPosRankSum=1.314;VQSLOD=4.6000;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,84:165:99:2324,0,2341 2 136555659 136555659 T C exonic LCT nonsynonymous SNV LCT:NM_002299:exon13:c.A4916G:p.N1639S 0.44 0.3 0.47 0.46 0.64 0.4 0.6058 0.3969 0.4966 0.4790 0.7269 0.7003 0.5672 0.4520 0.62 0.41 0.73 0.4 0.75 rs2322659 . . Benign|Benign Congenital_lactase_deficiency|Lactose_intolerance RCV000349439.1|RCV000392923.1 MedGen:OMIM:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen C0268179:223000:ORPHA53690:5388008|HP:0004789:C0022951 . . . . . . 0.134 0.263 T 0.013 0.154 B 0.031 0.206 B 0.152 0.179 N 1 0.090 P -0.53 0.025 N 1.54 0.301 T -0.1 0.085 N 0.022 0.084 -0.969 0.373 T 0.000 0.000 T . . . -0.727 0.044 0.063 0.742 0.103 0.099 0.153 N c -1.247 -1.298 1.000 0.747 0.556 0.300 0 -8.89 0.007 -0.919 0.041 -0.343 0.071 0.000 0.063 0.193 0.216 10.073 0.413 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000076003.4|ENSG00000076003.4|ENSG00000076003.4|ENSG00000144224.12|ENSG00000076003.4|ENSG00000115866.6 Artery_Aorta|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.6065 0.3896 0.5034 0.3632 0.4787 0.7341 0.7270 0.5655 0.4545 0.6053 0.3973 0.5107 0.33 0.4650 0.7284 0.7215 0.6352 het 2571.51 206 2 136555659 . T C 2571.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.625;DP=206;Dels=0.00;FS=2.408;HRun=0;HaplotypeScore=3.1062;MQ=59.47;MQ0=0;MQRankSum=-0.415;QD=12.48;ReadPosRankSum=-1.345;VQSLOD=6.0653;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,102:206:99:2602,0,2702 2 136561557 136561557 G A exonic LCT synonymous SNV LCT:NM_002299:exon11:c.C4606T:p.L1536L 0.66 0.4 0.75 0.78 0.75 0.73 0.7532 0.4765 0.7687 0.7900 0.8314 0.7856 0.7152 0.7370 0.7 0.49 0.8 0.56 0.84 rs2304371 . . Benign|Benign Congenital_lactase_deficiency|Lactose_intolerance RCV000303180.1|RCV000357102.1 MedGen:OMIM:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen C0268179:223000:ORPHA53690:5388008|HP:0004789:C0022951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7588 0.4710 0.7669 0.5104 0.7843 0.8381 0.8063 0.7186 0.7354 0.7084 0.4795 0.7446 0.4967 0.7658 0.8380 0.8037 0.7546 het 1396.57 116 2 136561557 . G A 1396.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.790;DP=116;Dels=0.00;FS=0.779;HRun=1;HaplotypeScore=4.7573;MQ=59.52;MQ0=0;MQRankSum=1.191;QD=12.04;ReadPosRankSum=2.310;VQSLOD=4.8668;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,49:116:99:1427,0,1846 2 136575199 136575199 G T exonic LCT synonymous SNV LCT:NM_002299:exon6:c.C1419A:p.G473G 0.36 0.12 0.43 0.4 0.6 0.33 0.5559 0.2168 0.4536 0.3927 0.7039 0.6701 0.5275 0.4069 0.54 0.24 0.7 0.3 0.66 rs6719488 COSM3757645 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Lactose_intolerance|Congenital_lactase_deficiency RCV000301721.1|RCV000361032.1 Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet:SNOMED_CT HP:0004789:C0022951|C0268179:223000:ORPHA53690:5388008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5599 0.2060 0.4608 0.3010 0.3972 0.7096 0.6998 0.5248 0.4095 0.5280 0.2210 0.4678 0.2914 0.3583 0.7049 0.6886 0.5786 het 787.79 59 2 136575199 . G T 787.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.618;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.296;QD=13.35;ReadPosRankSum=3.317;VQSLOD=10.1398;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,28:59:99:818,0,899 2 136575534 136575534 T C exonic LCT nonsynonymous SNV LCT:NM_002299:exon6:c.A1084G:p.I362V 0.98 0.92 1. 1. 1. 1. 0.9943 0.9394 0.9975 1 1 0.9996 0.9967 0.9999 0.98 0.94 1. 0.96 0.98 rs4954449 . . Benign|Benign Lactose_intolerance|Congenital_lactase_deficiency RCV000262636.1|RCV000352993.1 Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet:SNOMED_CT HP:0004789:C0022951|C0268179:223000:ORPHA53690:5388008 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.182 P -1.935 0.002 N 2.02 0.211 T 0.11 0.057 N 0.036 0.016 -0.954 0.404 T 0.000 0.000 T . . . -0.811 0.040 0.040 0.574 0.056 0.021 0.062 N c -0.863 -0.571 1.000 0.747 0.497 0.185 0 5.56 0.836 4.594 0.605 0.069 0.176 1.000 0.715 0.521 0.274 12.036 0.525 . . . 0.9953 0.9349 0.9972 0.9964 1 1 0.9999 0.9974 0.9998 0.9814 0.9354 0.9952 0.9967 0.9994 1 0.9998 0.9959 hom 6371.88 195 2 136575534 . T C 6371.88 Mask AC=2;AF=1.00;AN=2;DP=195;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.12;MQ0=0;QD=32.68;VQSLOD=9.8693;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:6371,497,0 2 136590746 136590746 C T exonic LCT nonsynonymous SNV LCT:NM_002299:exon2:c.G655A:p.V219I 0.35 0.54 0.26 0.37 0.22 0.29 0.2437 0.4610 0.2374 0.3891 0.1468 0.1938 0.2676 0.2745 0.27 0.44 0.18 0.28 0.16 rs3754689 COSM1399583 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Lactose_intolerance|Congenital_lactase_deficiency RCV000288474.1|RCV000382944.1 Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet:SNOMED_CT HP:0004789:C0022951|C0268179:223000:ORPHA53690:5388008 . . . . . . 1.0 0.010 T 0.009 0.139 B 0.026 0.195 B 0.289 0.148 N 0.999 0.217 P 0.5 0.134 N 1.79 0.255 T 0.01 0.069 N 0.037 0.017 -0.914 0.464 T 0.000 0.000 T . . . -0.117 0.083 1.609 0.127 0.002 0.179 0.198 N c -1.032 -0.896 0.982 0.302 0.554 0.283 0 2.81 0.318 0.090 0.147 0.931 0.441 0.365 0.257 0.811 0.340 7.644 0.273 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000115866.6|ENSG00000115866.6|ENSG00000115866.6|ENSG00000144224.12|ENSG00000115866.6 Esophagus_Mucosa|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.2402 0.4626 0.2396 0.4927 0.3942 0.1384 0.1729 0.2716 0.2753 0.2623 0.4434 0.2494 0.5101 0.4145 0.1380 0.1687 0.2146 het 1771.81 175 2 136590746 . C T 1771.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.752;DP=175;DS;Dels=0.00;FS=3.566;HRun=0;HaplotypeScore=4.3124;MQ=59.33;MQ0=0;MQRankSum=0.227;QD=10.12;ReadPosRankSum=-1.469;VQSLOD=5.1408;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,78:175:99:1802,0,2575 2 136594158 136594158 G A exonic LCT synonymous SNV LCT:NM_002299:exon1:c.C582T:p.T194T 0.35 0.12 0.4 0.37 0.6 0.34 0.5487 0.2204 0.3946 0.3654 0.7022 0.6696 0.5253 0.4110 0.54 0.24 0.7 0.29 0.73 rs2236783 COSM3757646 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Lactose_intolerance|Congenital_lactase_deficiency RCV000304642.1|RCV000407317.1 Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet:SNOMED_CT HP:0004789:C0022951|C0268179:223000:ORPHA53690:5388008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5504 0.2113 0.4015 0.3000 0.3693 0.7090 0.6996 0.5164 0.4130 0.5260 0.2261 0.4057 0.2867 0.3329 0.7046 0.6878 0.5770 het 2469.75 207 2 136594158 . G A 2469.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.702;DP=207;Dels=0.00;FS=4.882;HRun=0;HaplotypeScore=1.4972;MQ=59.27;MQ0=0;MQRankSum=0.289;QD=11.93;ReadPosRankSum=0.570;VQSLOD=6.1858;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,96:207:99:2500,0,3153 2 137814477 137814477 C G exonic THSD7B synonymous SNV THSD7B:NM_001316349:exon3:c.C627G:p.P209P 0.17 0.017 0.26 0.002 0.4 0.23 0.3082 0.0710 0.2017 0.0020 0.4013 0.3997 0.3452 0.2740 0.3 0.072 0.4 0.13 . rs17727482 COSM5021326;COSM5021327 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3130 0.0657 0.2170 0.4608 0.0017 0.3993 0.4007 0.3534 0.2801 0.2763 0.0706 0.2536 0.4868 0.0031 0.3918 0.3894 0.375 hom 7403.16 234 2 137814477 . C G 7403.16 Mask AC=2;AF=1.00;AN=2;DP=234;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8273;MQ=59.35;MQ0=0;QD=31.64;VQSLOD=8.3400;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,231:234:99:7380,605,0 2 137917922 137917922 T A exonic THSD7B nonsynonymous SNV THSD7B:NM_001316349:exon6:c.T1509A:p.D503E 0.28 0.14 0.35 0.14 0.49 0.36 0.4060 0.2064 0.2985 0.1313 0.5379 0.4765 0.4474 0.4013 0.39 0.2 0.48 0.17 . rs4954474 . . . . . . . . . . . . . 0.151 0.246 T 0.001 0.102 B 0.014 0.158 B 0.000 0.513 N 0.007 0.588 P 0.835 0.211 L 0.12 0.611 T -1.22 0.309 N 0.026 0.083 -0.912 0.466 T 0.000 0.000 T . . . 3.642 0.495 23.2 0.975 0.337 0.791 0.389 D c -0.528 -0.383 0.000 0.012 0.487 0.133 0 2.25 0.272 0.774 0.261 1.061 0.807 0.998 0.411 0.936 0.409 5.406 0.155 . . . 0.4099 0.2003 0.3129 0.4868 0.1304 0.5480 0.4781 0.4311 0.4008 0.3926 0.2010 0.3301 0.4868 0.1210 0.5424 0.4944 0.4795 hom 2996.41 97 2 137917922 . T A 2996.41 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=59.76;MQ0=0;QD=30.89;VQSLOD=8.8102;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3029,250,0 2 138420996 138420996 A G exonic THSD7B nonsynonymous SNV THSD7B:NM_001316349:exon26:c.A4502G:p.K1501R 0.59 0.66 0.54 0.55 0.56 0.59 0.6256 0.6603 0.5683 0.6025 0.6282 0.6388 0.6389 0.5921 0.6 0.64 0.59 0.54 . rs10206850 COSM4001200;COSM4001199 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.199 P -1.79 0.003 N 2.51 0.143 T 0.44 0.033 N 0.079 0.580 -0.963 0.386 T 0.000 0.000 T . . . 2.345 0.343 18.46 0.911 0.198 0.495 0.282 N c -0.619 -0.275 0.045 0.146 0.554 0.283 0 6.02 0.975 5.512 0.665 0.138 0.222 1.000 0.715 0.999 0.750 15.622 0.765 . . . 0.5637 0.6304 0.4562 0.6731 0.5355 0.5823 0.5787 0.5738 0.5613 0.5957 0.6265 0.4640 0.7152 0.5615 0.5641 0.5951 0.5751 het 144.32 13 2 138420996 . A G 144.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.811;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.98;MQ0=0;MQRankSum=-0.312;QD=11.10;ReadPosRankSum=-0.555;VQSLOD=5.8742;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,7:13:99:174,0,169 2 138759649 138759649 C T exonic HNMT nonsynonymous SNV HNMT:NM_006895:exon4:c.C314T:p.T105I 0.059 0.003 0.078 0.032 0.1 0.11 0.1017 0.0204 0.1005 0.0408 0.1662 0.1144 0.1448 0.1066 0.077 0.024 0.1 0.087 0.057 rs11558538 . . other Asthma\x2c_susceptibility_to RCV000005467.2 MedGen:OMIM C1869116:600807 . . . . . . 0.004 0.654 D 0.729 0.407 P 0.602 0.490 P 0.001 0.392 N 0.999 0.463 D 2.65 0.778 M 0.99 0.418 T -2.45 0.535 N 0.396 0.455 -1.146 0.011 T 0.007 0.024 T . . . 6.125 0.844 28.3 0.998 0.908 0.911 0.526 D c 0.426 0.477 0.817 0.244 0.638 0.428 0 5.27 0.737 5.032 0.637 0.928 0.438 1.000 0.715 1.000 0.888 15.171 0.724 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000150540.9 Nerve_Tibial 0.1008 0.0162 0.0964 0.0695 0.0388 0.1601 0.1126 0.1099 0.1022 0.0879 0.0193 0.0923 0.0861 0.0289 0.1580 0.1162 0.1104 het 624.89 73 2 138759649 . C T 624.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.199;DP=73;Dels=0.00;FS=0.919;HRun=0;HaplotypeScore=0.9734;MQ=59.43;MQ0=0;MQRankSum=-0.051;QD=8.56;ReadPosRankSum=-0.693;VQSLOD=6.0836;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,29:73:99:655,0,1222 2 139429068 139429068 G A exonic NXPH2 synonymous SNV NXPH2:NM_007226:exon2:c.C219T:p.Y73Y 0.66 0.89 0.69 0.45 0.72 0.48 0.6719 0.8596 0.6701 0.4586 0.7450 0.6959 0.6871 0.5454 0.75 0.86 0.7 0.67 . rs10803570 COSM3757648 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6726 0.8649 0.6724 0.6398 0.4537 0.7432 0.7018 0.6855 0.5512 0.7493 0.8596 0.6897 0.5867 0.4406 0.7438 0.7288 0.7092 hom 4876.01 155 2 139429068 . G A 4876.01 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9900;MQ=58.69;MQ0=0;QD=31.46;VQSLOD=8.6692;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4875,385,0 2 141032088 141032088 C T exonic LRP1B synonymous SNV LRP1B:NM_018557:exon85:c.G13047A:p.T4349T 0.49 0.16 0.57 0.65 0.67 0.52 0.6037 0.2388 0.5460 0.6858 0.6843 0.6595 0.6035 0.5737 0.53 0.26 0.67 0.51 0.52 rs1386356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6094 0.2301 0.5337 0.5178 0.6863 0.6878 0.6739 0.6123 0.5760 0.5412 0.2389 0.5469 0.4967 0.7081 0.6794 0.6628 0.6222 hom 2013.82 68 2 141032088 . C T 2013.82 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6735;MQ=56.79;MQ0=0;QD=29.62;VQSLOD=4.4044;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2047,162,0 2 141259283 141259283 G A exonic LRP1B synonymous SNV LRP1B:NM_018557:exon55:c.C8823T:p.D2941D 0.1 0.04 0.11 0.019 0.2 0.18 0.1741 0.0598 0.1114 0.0132 0.2106 0.2154 0.1515 0.1947 0.17 0.064 0.23 0.11 0.22 rs35296183 COSM3757650 1(bone);8(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1716 0.0562 0.1052 0.1624 0.0152 0.2053 0.2207 0.1670 0.1906 0.1568 0.0628 0.1358 0.1788 0.0130 0.1996 0.2148 0.2049 hom 2489.34 86 2 141259283 . G A 2489.34 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=56.27;MQ0=0;QD=28.95;VQSLOD=6.0508;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2522,196,0 2 141259376 141259376 G A exonic LRP1B synonymous SNV LRP1B:NM_018557:exon55:c.C8730T:p.C2910C 0.13 0.061 0.12 0.02 0.25 0.21 0.2154 0.0826 0.1284 0.0148 0.3022 0.2674 0.2042 0.2210 0.21 0.086 0.27 0.13 0.21 rs35164907 COSM3757651 1(bone);12(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2132 0.0803 0.1242 0.2141 0.0166 0.3015 0.2687 0.2176 0.2198 0.2063 0.0852 0.1583 0.2252 0.0136 0.2952 0.2750 0.2740 hom 1255.65 38 2 141259376 . G A 1255.65 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3649;MQ=54.79;MQ0=0;QD=33.04;VQSLOD=3.8764;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1289,108,0 2 141260668 141260668 A G exonic LRP1B synonymous SNV LRP1B:NM_018557:exon54:c.T8526C:p.Y2842Y 0.54 0.47 0.45 0.72 0.54 0.53 0.5490 0.4977 0.4719 0.7514 0.5804 0.5397 0.5 0.5568 0.53 0.5 0.55 0.55 0.46 rs4444457 COSM3757652 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5476 0.4967 0.4595 0.4065 0.7562 0.5877 0.5530 0.5183 0.5538 0.5463 0.4917 0.4580 0.4040 0.7593 0.5842 0.5528 0.5647 hom 2243.48 71 2 141260668 . A G 2243.48 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9997;MQ=58.61;MQ0=0;QD=31.60;VQSLOD=8.6331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2276,175,0 2 141274576 141274576 T C exonic LRP1B synonymous SNV LRP1B:NM_018557:exon50:c.A8031G:p.Q2677Q 0.64 0.69 0.74 0.42 0.75 0.63 0.7150 0.6940 0.7369 0.4041 0.6939 0.7714 0.7219 0.6561 0.75 0.7 0.77 0.64 0.8 rs4954672 COSM4001201 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7136 0.6883 0.7409 0.8406 0.4031 0.6860 0.7643 0.7476 0.6605 0.7137 0.6961 0.7542 0.8543 0.3999 0.6857 0.7578 0.7296 hom 2689.94 88 2 141274576 . T C 2689.94 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.98;MQ0=0;QD=30.57;VQSLOD=9.2629;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2723,205,0 2 141457985 141457985 T A exonic LRP1B synonymous SNV LRP1B:NM_018557:exon41:c.A6633T:p.P2211P 0.24 0.46 0.19 0.093 0.14 0.26 0.1951 0.4045 0.2103 0.0934 0.1912 0.1624 0.1784 0.2402 0.24 0.39 0.16 0.29 0.22 rs13431727 COSM5019588 7(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1884 0.4085 0.2001 0.0788 0.0886 0.1966 0.1655 0.1723 0.2371 0.2315 0.4057 0.1918 0.0795 0.0727 0.1995 0.1617 0.2061 het 1086.84 92 2 141457985 . T A 1086.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.391;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8273;MQ=58.47;MQ0=0;MQRankSum=0.493;QD=11.81;ReadPosRankSum=0.571;VQSLOD=5.4033;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,43:92:99:1117,0,1266 2 141571329 141571329 T C exonic LRP1B synonymous SNV LRP1B:NM_018557:exon32:c.A5256G:p.S1752S 0.85 0.7 0.77 0.99 0.87 0.92 0.8708 0.7320 0.7711 0.9888 0.8899 0.8828 0.8598 0.9101 0.84 0.74 0.89 0.8 0.83 rs3749010 COSM4133144 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8705 0.7279 0.7804 0.8659 0.9886 0.8918 0.8854 0.8586 0.9076 0.8491 0.7260 0.8098 0.8642 0.9932 0.8967 0.8937 0.8809 hom 3460.76 117 2 141571329 . T C 3460.76 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8321;MQ=59.45;MQ0=0;QD=29.58;VQSLOD=8.7869;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3460,280,0 2 141707868 141707868 G T exonic LRP1B synonymous SNV LRP1B:NM_018557:exon20:c.C3072A:p.A1024A 0.28 0.47 0.24 0.25 0.14 0.2 0.1761 0.4052 0.2665 0.2339 0.0684 0.1310 0.1424 0.1655 0.22 0.39 0.14 0.28 0.17 rs6748626 COSM3757654 1(haematopoietic_and_lymphoid_tissue);10(soft_tissue);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1732 0.4063 0.2573 0.1976 0.2361 0.0672 0.1288 0.1693 0.1625 0.2011 0.4066 0.2470 0.1954 0.2220 0.0639 0.1141 0.1263 het 1283.13 100 2 141707868 . G T 1283.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.441;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8490;MQ=58.66;MQ0=0;MQRankSum=-1.138;QD=12.83;ReadPosRankSum=0.662;VQSLOD=5.4558;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,49:100:99:1313,0,1326 2 141751592 141751592 G A exonic LRP1B synonymous SNV LRP1B:NM_018557:exon16:c.C2616T:p.D872D 0.51 0.61 0.38 0.61 0.37 0.5 0.3880 0.5493 0.3962 0.5988 0.2436 0.3340 0.3491 0.4490 0.4 0.55 0.32 0.53 0.32 rs13007735 COSM4964776 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3818 0.5603 0.3886 0.4831 0.5911 0.2381 0.3243 0.3788 0.4483 0.3874 0.5551 0.3553 0.4834 0.5853 0.2413 0.3080 0.3145 het 920.09 70 2 141751592 . G A 920.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.259;DP=70;Dels=0.00;FS=3.209;HRun=0;HaplotypeScore=3.2270;MQ=59.04;MQ0=0;MQRankSum=-1.482;QD=13.14;ReadPosRankSum=1.906;VQSLOD=4.8693;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,37:70:99:950,0,807 2 141773397 141773397 C A exonic LRP1B synonymous SNV LRP1B:NM_018557:exon13:c.G2058T:p.R686R 0.034 . 0.027 0.002 0.074 0.077 0.0528 0.0102 0.0324 0.0004 0.0335 0.0637 0.0541 0.0846 0.046 0.012 0.064 0.011 0.074 rs78806080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0513 0.0105 0.0307 0.0603 0.0005 0.0315 0.0647 0.0570 0.0846 0.0382 0.0115 0.0514 0.0662 0.0006 0.0301 0.0574 0.0519 het 1546.70 120 2 141773397 . C A 1546.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.678;DP=120;Dels=0.00;FS=3.398;HRun=0;HaplotypeScore=0.0000;MQ=57.83;MQ0=0;MQRankSum=1.460;QD=12.89;ReadPosRankSum=0.029;VQSLOD=4.6548;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,64:120:99:1577,0,1409 2 141816621 141816621 A G exonic LRP1B synonymous SNV LRP1B:NM_018557:exon9:c.T1239C:p.V413V 0.95 0.8 0.98 1. 1. 1. 0.9843 0.8263 0.9945 1 1 0.9997 0.9910 0.9996 0.94 0.82 1. 0.99 0.9 rs1525579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9878 0.8231 0.9940 1 1 1 0.9997 0.9951 0.9996 0.9499 0.8252 0.9916 1 1 1 0.9996 0.9918 hom 1484 49 2 141816621 . A G 1484 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.08;MQ0=0;QD=30.29;VQSLOD=8.5043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1517,120,0 2 143798189 143798189 A G exonic KYNU nonsynonymous SNV KYNU:NM_003937:exon13:c.A1234G:p.K412E,KYNU:NM_001199241:exon14:c.A1234G:p.K412E 0.18 0.14 0.091 0.27 0.19 0.17 0.1653 0.1368 0.0958 0.2765 0.1517 0.1645 0.1576 0.1835 0.16 0.14 0.17 0.14 0.11 rs9013 COSM3757655 6(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.687 0.043 T 0.0 0.026 B 0.001 0.040 B 0.070 0.215 N 1 0.090 P 1.56 0.396 L 0.63 0.531 T -1.47 0.360 N 0.12 0.155 -1.052 0.137 T 0.000 0.000 T . . . -0.929 0.035 0.022 0.225 0.009 0.250 0.223 N c -1.092 -1.028 0.044 0.146 0.707 0.730 0 4.36 0.515 1.846 0.387 1.028 0.649 0.045 0.210 0.389 0.252 12.635 0.559 Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 2 . . 0.1598 0.1362 0.0982 0.0927 0.2773 0.1542 0.1673 0.1458 0.1726 0.1602 0.1295 0.0909 0.1060 0.2578 0.1537 0.1739 0.1622 het 225.33 32 2 143798189 . A G 225.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.109;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=2.861;QD=7.04;ReadPosRankSum=-1.032;VQSLOD=4.5737;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,12:32:99:255,0,546 2 144194565 144194565 C T exonic ARHGAP15 synonymous SNV ARHGAP15:NM_018460:exon8:c.C657T:p.Y219Y 0.092 0.033 0.088 0.003 0.21 0.15 0.1712 0.0517 0.0714 0.0008 0.2393 0.2210 0.1767 0.1755 0.17 0.06 0.23 0.14 0.12 rs17230746 COSM3757656 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1692 0.0508 0.0781 0.1816 0.0006 0.2344 0.2227 0.1799 0.1727 0.1696 0.0502 0.0957 0.1821 0.0012 0.2373 0.2420 0.2210 het 245.99 37 2 144194565 . C T 245.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.150;DP=37;Dels=0.00;FS=1.380;HRun=0;HaplotypeScore=1.5779;MQ=58.64;MQ0=0;MQRankSum=-1.013;QD=6.65;ReadPosRankSum=-1.445;VQSLOD=4.0986;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,11:37:99:276,0,660 2 144899559 144899559 C A exonic GTDC1 nonsynonymous SNV GTDC1:NM_001284233:exon4:c.G411T:p.M137I,GTDC1:NM_001284234:exon4:c.G24T:p.M8I,GTDC1:NM_001006636:exon6:c.G411T:p.M137I,GTDC1:NM_001164629:exon6:c.G411T:p.M137I,GTDC1:NM_001284235:exon6:c.G411T:p.M137I,GTDC1:NM_024659:exon6:c.G411T:p.M137I,GTDC1:NM_001284238:exon8:c.G315T:p.M105I 0.68 0.74 0.71 0.84 0.54 0.56 0.5781 0.7308 0.7876 0.8373 0.4863 0.4934 0.5861 0.5801 0.57 0.73 0.49 0.74 0.39 rs3731958 COSM3757657 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.843 N 1.000 0.199 P -2.79 0.000 N 1.15 0.785 T 2.11 0.007 N 0.068 0.228 -0.943 0.422 T 0.000 0.000 T . . . 1.600 0.254 13.85 0.569 0.055 0.402 0.261 N c -0.868 -0.536 0.983 0.304 0.693 0.558 0 4.9 0.635 1.911 0.393 0.242 0.267 1.000 0.715 0.999 0.750 13.011 0.580 Glycosyltransferase family 1\x2c N-terminal . . 0.5837 0.7374 0.7780 0.4869 0.8376 0.4972 0.4923 0.5643 0.5809 0.5883 0.7218 0.7302 0.4934 0.8099 0.4951 0.5057 0.5482 hom 1272.70 42 2 144899559 . C A 1272.70 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;QD=30.30;VQSLOD=9.0944;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1306,102,0 2 150432976 150432976 C T exonic MMADHC synonymous SNV MMADHC:NM_015702:exon5:c.G453A:p.Q151Q 0.76 0.45 0.8 0.88 0.89 0.9 0.8681 0.5134 0.8502 0.8611 0.9422 0.9118 0.8855 0.9003 0.77 0.52 0.91 0.64 0.9 rs11545261 . . Benign|Benign|Benign not_specified|Methylmalonic_acidemia|Disorders_of_Intracellular_Cobalamin_Metabolism RCV000186036.2|RCV000344994.1|RCV000401734.1 MedGen|MedGen:SNOMED_CT|MedGen CN169374|C0268583:42393006|CN043592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8744 0.5080 0.8470 0.8999 0.8614 0.9427 0.9110 0.8837 0.9017 0.8004 0.5047 0.8520 0.8808 0.8517 0.9462 0.9220 0.8926 hom 4185.75 135 2 150432976 . C T 4185.75 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9578;MQ=59.35;MQ0=0;QD=31.01;VQSLOD=8.7055;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4185,319,0 2 152135415 152135415 C T exonic NMI synonymous SNV NMI:NM_004688:exon4:c.G267A:p.S89S 0.059 0.051 0.12 0.002 0.053 0.092 0.0689 0.0565 0.1023 0.0002 0.0840 0.0666 0.0822 0.0912 0.064 0.06 0.066 0.033 0.033 rs11551174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0681 0.0527 0.0992 0.0580 0.0003 0.0837 0.0631 0.0643 0.0904 0.0650 0.0599 0.0921 0.0530 0.0006 0.0931 0.0671 0.0652 het 1071.70 68 2 152135415 . C T 1071.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.509;DP=68;Dels=0.00;FS=0.965;HRun=0;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;MQRankSum=-1.374;QD=15.76;ReadPosRankSum=-1.743;VQSLOD=5.3990;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,43:68:99:1102,0,559 2 152236046 152236046 A - exonic TNFAIP6 nonframeshift deletion TNFAIP6:NM_007115:exon6:c.833delA:p.X278X 0.49 0.44 0.42 0.52 0.52 0.55 0.4919 0.4562 0.4548 0.4910 0.4918 0.5019 0.4897 0.4993 . . . . . rs71403164 COSM1399893 2(kidney);2(upper_aerodigestive_tract);2(central_nervous_system);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4868 0.4543 0.4497 0.4958 0.4866 0.4874 0.4969 0.4892 0.4887 0.4795 0.3679 0.3640 0.5534 0.5632 0.5333 0.5313 0.5027 hom 250.54 37 2 152236045 . TA T 250.54 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.060;DP=37;FS=0.000;HRun=14;HaplotypeScore=112.9539;MQ=56.06;MQ0=0;MQRankSum=1.258;QD=6.77;ReadPosRankSum=-0.419;set=variant2 GT:AD:DP:GQ:PL 1/1:16,18:37:3.78:290,4,0 2 152311570 152311570 G A exonic RIF1 nonsynonymous SNV RIF1:NM_001177665:exon21:c.G2506A:p.G836S,RIF1:NM_001177663:exon22:c.G2506A:p.G836S,RIF1:NM_001177664:exon22:c.G2506A:p.G836S,RIF1:NM_018151:exon22:c.G2506A:p.G836S 0.64 0.58 0.71 0.76 0.68 0.52 0.6607 0.5854 0.7744 0.7801 0.6909 0.6633 0.6641 0.5432 0.63 0.58 0.66 0.65 0.66 rs2444263 COSM5941193 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.154 B 0.0 0.080 B 0.024 0.263 N 1 0.090 P -1.7 0.004 N -4.91 0.984 D 0.9 0.016 N 0.025 0.352 -0.999 0.301 T 0.000 0.000 T . . . 0.933 0.183 10.27 0.208 0.008 0.018 0.056 N c -0.804 -0.723 0.936 0.272 0.707 0.730 0 3.18 0.355 0.794 0.264 0.240 0.266 0.005 0.169 0.864 0.361 8.741 0.335 Armadillo-type fold ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000183091.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.6674 0.5827 0.7661 0.6413 0.7760 0.6857 0.6643 0.6854 0.5442 0.6579 0.5809 0.7650 0.6533 0.7735 0.6880 0.6771 0.6609 het 2161.78 171 2 152311570 . G A 2161.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.528;DP=171;Dels=0.00;FS=0.579;HRun=0;HaplotypeScore=2.8132;MQ=59.49;MQ0=0;MQRankSum=-0.642;QD=12.64;ReadPosRankSum=1.720;VQSLOD=6.0348;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,85:171:99:2192,0,2035 2 152320118 152320118 G A exonic RIF1 nonsynonymous SNV RIF1:NM_001177665:exon29:c.G4084A:p.V1362M,RIF1:NM_001177663:exon30:c.G4084A:p.V1362M,RIF1:NM_001177664:exon30:c.G4084A:p.V1362M,RIF1:NM_018151:exon30:c.G4084A:p.V1362M 0.64 0.58 0.71 0.76 0.68 0.52 0.6615 0.5880 0.7746 0.7809 0.6912 0.6633 0.6626 0.5456 0.63 0.58 0.66 0.64 0.61 rs2123465 . . . . . . . . . . . . . 0.374 0.114 T 0.0 0.154 B 0.002 0.179 B 0.050 0.020 N 1 0.090 P 1.7 0.440 L 1.32 0.352 T -0.53 0.170 N 0.015 0.004 -0.972 0.368 T 0.000 0.000 T . . . -1.170 0.026 0.007 0.583 0.058 0.079 0.137 N c -1.491 -1.588 0.956 0.282 0.707 0.730 0 -5.84 0.021 -0.356 0.076 -0.513 0.050 0.000 0.063 0.043 0.159 11.108 0.472 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000183091.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.6678 0.5847 0.7658 0.6391 0.7764 0.6863 0.6643 0.6859 0.5465 0.6577 0.5826 0.7661 0.6457 0.7736 0.6881 0.6759 0.6602 het 941.04 66 2 152320118 . G A 941.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.428;DP=66;Dels=0.00;FS=1.998;HRun=1;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;MQRankSum=-1.323;QD=14.26;ReadPosRankSum=2.094;VQSLOD=4.4484;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,35:66:99:971,0,849 2 152322095 152322095 A T exonic RIF1 nonsynonymous SNV RIF1:NM_001177665:exon29:c.A6061T:p.N2021Y,RIF1:NM_001177663:exon30:c.A6061T:p.N2021Y,RIF1:NM_001177664:exon30:c.A6061T:p.N2021Y,RIF1:NM_018151:exon30:c.A6061T:p.N2021Y 0.66 0.58 0.74 0.76 0.73 0.53 0.7067 0.6007 0.7971 0.7826 0.7235 0.7299 0.7018 0.5706 0.68 0.59 0.73 0.71 0.64 rs2444257 . . . . . . . . . . . . . 0.52 0.072 T 0.0 0.026 B 0.0 0.013 B 0.036 0.018 N 1 0.090 P -0.345 0.033 N 3.02 0.090 T 0.86 0.023 N 0.027 0.318 -1.008 0.275 T 0.000 0.000 T . . . -2.145 0.006 0.001 0.178 0.005 0.005 0.022 N c -2.098 -2.057 0.136 0.172 0.707 0.730 0 -2.42 0.061 -0.748 0.049 -0.672 0.039 0.000 0.063 0.001 0.043 1.284 0.019 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000183091.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.7111 0.5963 0.7889 0.6872 0.7786 0.7173 0.7317 0.7318 0.5707 0.6953 0.5933 0.7888 0.6987 0.7760 0.7222 0.7336 0.7041 het 533.49 48 2 152322095 . A T 533.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.265;DP=48;Dels=0.00;FS=6.227;HRun=1;HaplotypeScore=0.8941;MQ=58.73;MQ0=0;MQRankSum=0.052;QD=11.11;ReadPosRankSum=1.265;VQSLOD=4.3752;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,20:48:99:563,0,725 2 152331418 152331418 C G exonic RIF1 nonsynonymous SNV RIF1:NM_001177665:exon34:c.C7174G:p.L2392V,RIF1:NM_001177663:exon35:c.C7174G:p.L2392V,RIF1:NM_001177664:exon35:c.C7174G:p.L2392V,RIF1:NM_018151:exon36:c.C7252G:p.L2418V 0.66 0.57 0.74 0.76 0.73 0.53 0.7070 0.5992 0.7967 0.7809 0.7241 0.7304 0.6982 0.5719 0.68 0.59 0.73 0.71 0.59 rs1065177 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.080 B 0.134 0.185 N 1 0.090 P -0.28 0.037 N 2.88 0.111 T 0.03 0.072 N 0.029 0.225 -1.010 0.270 T 0.000 0.000 T . . . -1.125 0.027 0.009 0.123 0.002 0.016 0.051 N c -1.845 -1.844 1.000 0.747 0.707 0.730 0 -6.16 0.019 -1.942 0.016 -1.082 0.019 0.000 0.063 0.970 0.461 5.004 0.135 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000183091.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.7102 0.5898 0.7883 0.6867 0.7780 0.7170 0.7311 0.7307 0.5702 0.6940 0.5884 0.7883 0.6987 0.7763 0.7223 0.7337 0.7049 het 476.97 33 2 152331418 . C G 476.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.790;DP=33;Dels=0.00;FS=8.742;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=1.139;QD=14.45;ReadPosRankSum=-0.271;VQSLOD=4.4694;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:507,0,437 2 152346979 152346979 T C exonic NEB nonsynonymous SNV NEB:NM_004543:exon147:c.A19600G:p.I6534V,NEB:NM_001164507:exon180:c.A25204G:p.I8402V,NEB:NM_001164508:exon180:c.A25204G:p.I8402V,NEB:NM_001271208:exon181:c.A25309G:p.I8437V 0.33 0.46 0.35 0.25 0.37 0.2 0.4136 0.4743 0.4079 0.3032 0.4416 0.4502 0.3975 0.2697 0.42 0.43 0.41 0.37 . rs1061305 COSM5428592;COSM5428593;COSM5428591 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081132.10|RCV000398581.1 MedGen|MedGen CN169374|CN239479 . . . . . . 0.379 0.258 T 0.0 0.158 B 0.0 0.229 B 0.009 0.304 N 0.474 0.319 P 0.55 0.145 N 3.5 0.058 T -0.25 0.114 N 0.036 0.203 -0.957 0.397 T 0.000 0.000 T . . . 1.308 0.222 12.31 0.936 0.228 0.604 0.309 D c -0.670 -0.531 0.044 0.146 0.615 0.372 0 0.397 0.155 -0.715 0.051 0.868 0.378 0.630 0.278 0.998 0.697 5.483 0.159 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.3669 0.4371 0.3627 0.2938 0.2631 0.3790 0.4164 0.3705 0.2302 0.4068 0.4268 0.3549 0.3013 0.2454 0.3923 0.4233 0.3719 het 271.32 23 2 152346979 . T C 271.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DP=23;Dels=0.00;FS=1.648;HRun=0;HaplotypeScore=0.0000;MQ=58.91;MQ0=0;MQRankSum=-0.831;QD=11.80;ReadPosRankSum=0.523;VQSLOD=6.0946;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,12:23:99:301,0,311 2 152352843 152352843 C G exonic NEB nonsynonymous SNV NEB:NM_004543:exon140:c.G18829C:p.A6277P,NEB:NM_001164507:exon173:c.G24433C:p.A8145P,NEB:NM_001164508:exon173:c.G24433C:p.A8145P,NEB:NM_001271208:exon174:c.G24538C:p.A8180P 0.63 0.59 0.69 0.75 0.65 0.48 0.6499 0.5989 0.7603 0.7772 0.6865 0.6488 0.6444 0.5238 0.63 0.59 0.64 0.63 . rs7575451 COSM4154529;COSM4154531;COSM4154530 1(kidney) other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081126.10|RCV000266979.1 MedGen|MedGen CN169374|CN239479 . . . . . . 0.936 0.342 T 0.0 0.026 B 0.0 0.040 B . . . 1.000 0.196 P -1.405 0.006 N 3.44 0.096 T 2.37 0.008 N 0.315 0.702 -1.033 0.193 T 0.000 0.000 T . . . 3.599 0.490 23.2 0.981 0.374 0.220 0.214 N c -0.382 -0.280 0.020 0.132 0.487 0.133 0 4.11 0.472 1.994 0.401 0.123 0.211 0.991 0.370 0.995 0.604 10.384 0.431 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000183091.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6485 0.5920 0.7540 0.5770 0.7721 0.6758 0.6445 0.6583 0.5075 0.6500 0.5877 0.7530 0.5795 0.7717 0.6821 0.6613 0.6477 het 337.78 34 2 152352843 . C G 337.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.312;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3302;MQ=58.76;MQ0=0;MQRankSum=-0.382;QD=9.93;ReadPosRankSum=1.249;VQSLOD=5.2961;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,15:34:99:368,0,500 2 152387553 152387553 T C exonic NEB synonymous SNV NEB:NM_004543:exon117:c.A16446G:p.T5482T,NEB:NM_001164507:exon145:c.A21585G:p.T7195T,NEB:NM_001164508:exon145:c.A21585G:p.T7195T,NEB:NM_001271208:exon146:c.A21690G:p.T7230T 0.49 0.35 0.66 0.56 0.62 0.36 0.5830 0.3977 0.7277 0.5825 0.6484 0.6176 0.6005 0.4196 0.55 0.41 0.62 0.52 . rs4664475 . . other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081120.9|RCV000375369.1 MedGen|MedGen CN169374|CN239479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5887 0.3885 0.7245 0.5246 0.5811 0.6384 0.6210 0.6107 0.4081 0.5630 0.3837 0.7177 0.5166 0.5636 0.6445 0.6377 0.6045 het 788.50 72 2 152387553 . T C 788.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.655;DP=72;Dels=0.00;FS=3.254;HRun=0;HaplotypeScore=7.2560;MQ=57.23;MQ0=0;MQRankSum=0.565;QD=10.95;ReadPosRankSum=-0.057;VQSLOD=3.9661;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:39,33:72:99:818,0,855 2 152422076 152422076 C G exonic NEB nonsynonymous SNV NEB:NM_004543:exon88:c.G13166C:p.R4389T,NEB:NM_001164507:exon116:c.G18305C:p.R6102T,NEB:NM_001164508:exon116:c.G18305C:p.R6102T,NEB:NM_001271208:exon116:c.G18305C:p.R6102T 0.65 0.61 0.7 0.78 0.68 0.52 0.6707 0.6339 0.7729 0.8002 0.7051 0.6676 0.6775 0.5530 0.65 0.62 0.66 0.65 . rs2288210 COSM4154535;COSM4154536;COSM4154537 1(haematopoietic_and_lymphoid_tissue);1(kidney) other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081115.10|RCV000293399.1 MedGen|MedGen CN169374|CN239479 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.192 P -2.6 0.000 N 3.89 0.037 T 2.37 0.003 N 0.102 0.766 -0.998 0.306 T 0.000 0.000 T . . . 1.906 0.290 15.63 0.488 0.040 0.174 0.196 N c -0.730 -0.373 0.834 0.247 0.554 0.246 0 5.28 0.740 5.831 0.688 0.136 0.221 1.000 0.715 0.999 0.750 13.998 0.638 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000183091.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6670 0.6169 0.7665 0.5653 0.7934 0.6953 0.6646 0.6744 0.5329 0.6716 0.6153 0.7601 0.5728 0.7938 0.6926 0.6829 0.6772 het 509.53 29 2 152422076 . C G 509.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.308;DP=29;Dels=0.00;FS=6.262;HRun=0;HaplotypeScore=0.9933;MQ=58.70;MQ0=0;MQRankSum=0.803;QD=17.57;ReadPosRankSum=1.950;VQSLOD=3.8010;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,19:29:99:540,0,252 2 152432311 152432311 T C exonic NEB synonymous SNV NEB:NM_004543:exon79:c.A11772G:p.P3924P,NEB:NM_001164507:exon107:c.A16911G:p.P5637P,NEB:NM_001164508:exon107:c.A16911G:p.P5637P,NEB:NM_001271208:exon107:c.A16911G:p.P5637P 0.11 0.011 0.13 0.004 0.24 0.21 0.1984 0.0411 0.0931 0.0010 0.2528 0.2562 0.2194 0.2122 0.19 0.046 0.25 0.11 . rs33988153 COSM3757670;COSM3757669;COSM3757668 1(large_intestine) other|Likely benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081112.10|RCV000333036.1 MedGen|MedGen CN169374|CN239479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1971 0.0403 0.1018 0.2884 0.0009 0.2531 0.2532 0.2130 0.2137 0.1751 0.0473 0.1283 0.2748 0.0012 0.2520 0.2476 0.2290 het 2056.97 181 2 152432311 . T C 2056.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.072;DP=181;DS;Dels=0.00;FS=0.656;HRun=0;HaplotypeScore=3.9914;MQ=58.73;MQ0=0;MQRankSum=-0.674;QD=11.36;ReadPosRankSum=-0.407;VQSLOD=5.4825;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,87:181:99:2087,0,2603 2 152476028 152476028 C G exonic NEB nonsynonymous SNV NEB:NM_004543:exon69:c.G10044C:p.W3348C,NEB:NM_001164507:exon73:c.G10809C:p.W3603C,NEB:NM_001164508:exon73:c.G10809C:p.W3603C,NEB:NM_001271208:exon73:c.G10809C:p.W3603C 0.22 0.13 0.25 0.24 0.31 0.21 0.2891 0.1427 0.3217 0.2573 0.3506 0.3200 0.3163 0.2187 0.27 0.14 0.33 0.23 . rs10172023 COSM4416098;COSM4416096;COSM4416097 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081108.10|RCV000276282.1 MedGen|MedGen CN169374|CN239479 . . . . . . 0.006 0.784 D 1.0 0.899 D 0.995 0.818 D 0.000 0.629 D 0.000 0.588 P 3.32 0.909 M 1.46 0.322 T -5.24 0.839 D 0.308 0.779 -1.099 0.042 T 0.000 0.000 T . . . 5.710 0.779 26.8 0.989 0.480 0.065 0.124 N c 0.659 0.578 1.0 0.983 0.581 0.330 0 5.61 0.853 3.218 0.506 0.935 0.490 1.000 0.715 0.959 0.439 16.270 0.824 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cortex|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.2926 0.1374 0.3194 0.2340 0.2631 0.3404 0.3271 0.3021 0.2152 0.2765 0.1368 0.3174 0.2285 0.2525 0.3400 0.3418 0.3133 het 2806.29 222 2 152476028 . C G 2806.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.389;DP=222;Dels=0.00;FS=1.657;HRun=0;HaplotypeScore=5.6285;MQ=59.56;MQ0=0;MQRankSum=-0.500;QD=12.64;ReadPosRankSum=-0.706;VQSLOD=4.6954;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,103:222:99:2836,0,3274 2 152527572 152527572 C T exonic NEB nonsynonymous SNV NEB:NM_001164507:exon38:c.G4471A:p.V1491M,NEB:NM_001164508:exon38:c.G4471A:p.V1491M,NEB:NM_001271208:exon38:c.G4471A:p.V1491M,NEB:NM_004543:exon38:c.G4471A:p.V1491M 0.53 0.2 0.84 0.38 0.82 0.64 0.7386 0.2824 0.8616 0.4071 0.8694 0.8357 0.7744 0.6491 0.66 0.32 0.83 0.5 . rs7426114 COSM4001233;COSM4001232;COSM4001231 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081137.10|RCV000348796.1 MedGen|MedGen CN169374|CN239479 . . . . . . 0.03 0.453 D 0.82 0.437 P 0.42 0.433 B 0.000 0.481 D 0.077 0.367 P 2.325 0.668 M 3.22 0.070 T -1.14 0.301 N 0.137 0.379 -1.161 0.007 T 0.000 0.000 T . . . 5.308 0.718 25.8 0.999 0.971 0.931 0.570 D c 0.427 0.488 1.000 0.747 0.603 0.348 0 5.42 0.786 3.389 0.520 0.852 0.362 1.000 0.715 0.996 0.625 14.785 0.693 . . . 0.7518 0.2766 0.8595 0.7490 0.4097 0.8607 0.8413 0.7839 0.6537 0.6642 0.2882 0.8609 0.7450 0.4091 0.8606 0.8429 0.7943 hom 4371.02 143 2 152527572 . C T 4371.02 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4725;MQ=58.78;MQ0=0;QD=30.57;VQSLOD=8.8454;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4370,346,0 2 152531077 152531077 A G exonic NEB nonsynonymous SNV NEB:NM_001164507:exon36:c.T3901C:p.Y1301H,NEB:NM_001164508:exon36:c.T3901C:p.Y1301H,NEB:NM_001271208:exon36:c.T3901C:p.Y1301H,NEB:NM_004543:exon36:c.T3901C:p.Y1301H 0.72 0.59 0.92 0.58 0.88 0.7 0.8265 0.6398 0.9142 0.5903 0.8893 0.8911 0.8497 0.7114 0.82 0.66 0.89 0.71 . rs6711382 COSM4001236;COSM4001234;COSM4001235 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000153548.3 MedGen CN169374 . . . . . . 0.456 0.088 T 0.0 0.026 B 0.002 0.063 B 0.002 0.371 N 1 0.090 P -1.385 0.006 N 0.91 0.449 T 1.88 0.005 N 0.037 0.193 -0.984 0.342 T 0.000 0.000 T . . . 1.671 0.262 14.24 0.958 0.273 0.039 0.092 N c -0.654 -0.393 0.995 0.339 0.554 0.246 0 5.52 0.821 1.865 0.389 0.138 0.222 1.000 0.715 0.994 0.587 7.258 0.252 . . . 0.8340 0.6392 0.9142 0.8401 0.5958 0.8827 0.8948 0.8524 0.7152 0.8055 0.6410 0.9055 0.8510 0.5892 0.8883 0.8950 0.8605 hom 2686.02 86 2 152531077 . A G 2686.02 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.57;MQ0=0;QD=31.23;VQSLOD=9.2766;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2719,205,0 2 152536498 152536498 T A exonic NEB nonsynonymous SNV NEB:NM_001164507:exon31:c.A3081T:p.K1027N,NEB:NM_001164508:exon31:c.A3081T:p.K1027N,NEB:NM_001271208:exon31:c.A3081T:p.K1027N,NEB:NM_004543:exon31:c.A3081T:p.K1027N 0.58 0.33 0.87 0.46 0.81 0.62 0.7499 0.3860 0.8796 0.4832 0.8684 0.8305 0.7884 0.6387 0.7 0.43 0.83 0.58 . rs6735208 . . other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081134.10|RCV000265121.1 MedGen|MedGen CN169374|CN239479 . . . . . . 0.131 0.266 T 0.982 0.581 D 0.855 0.591 P 0.000 0.843 D 0.016 0.401 P 1.65 0.424 L 3.22 0.070 T -2.03 0.534 N 0.084 0.254 -1.010 0.271 T 0.000 0.000 T . . . 3.606 0.491 23.2 0.998 0.877 0.334 0.246 N c -0.196 -0.302 0.142 0.173 0.554 0.246 0 -1.62 0.079 -0.548 0.061 -0.136 0.110 0.162 0.236 0.997 0.653 10.153 0.418 . . . 0.7616 0.3805 0.8766 0.7370 0.4874 0.8601 0.8354 0.7872 0.6435 0.6939 0.3867 0.8711 0.7318 0.4932 0.8647 0.8361 0.8043 hom 1860.45 58 2 152536498 . T A 1860.45 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;QD=32.08;VQSLOD=9.0413;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1893,150,0 2 152573981 152573981 A G exonic NEB synonymous SNV NEB:NM_001164507:exon10:c.T771C:p.A257A,NEB:NM_001164508:exon10:c.T771C:p.A257A,NEB:NM_001271208:exon10:c.T771C:p.A257A,NEB:NM_004543:exon10:c.T771C:p.A257A 0.57 0.27 0.85 0.47 0.81 0.63 0.7438 0.3415 0.8663 0.4735 0.8600 0.8293 0.7835 0.6424 0.69 0.38 0.83 0.56 . rs4611637 COSM4001250;COSM4001251;COSM4001249 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081142.10|RCV000374203.1 MedGen|MedGen CN169374|CN239479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7555 0.3390 0.8633 0.7378 0.4742 0.8524 0.8347 0.7849 0.6452 0.6784 0.3451 0.8604 0.7351 0.4548 0.8545 0.8362 0.7965 hom 2239.50 77 2 152573981 . A G 2239.50 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9958;MQ=53.76;MQ0=0;QD=29.08;VQSLOD=5.6472;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2273,184,0 2 153378459 153378459 T C exonic FMNL2 synonymous SNV FMNL2:NM_052905:exon2:c.T120C:p.N40N 0.69 0.64 0.77 0.75 0.67 0.66 0.6840 0.6436 0.8485 0.7378 0.6984 0.6529 0.7227 0.6827 0.65 0.64 0.66 0.62 . rs4664114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6935 0.6454 0.8308 0.6059 0.7376 0.7033 0.6618 0.6788 0.6817 0.6801 0.6398 0.7828 0.5762 0.7317 0.7147 0.6868 0.6724 hom 1331.22 49 2 153378459 . T C 1331.22 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.17;VQSLOD=13.8365;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1364,105,0 2 153405594 153405594 G A exonic FMNL2 synonymous SNV FMNL2:NM_052905:exon4:c.G342A:p.L114L 0.65 0.49 0.67 0.8 0.59 0.78 0.6537 0.5038 0.7590 0.8240 0.7416 0.6067 0.6244 0.7348 0.56 0.49 0.59 0.58 . rs1155779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6466 0.4875 0.7428 0.4959 0.8134 0.7421 0.5912 0.5917 0.7189 0.6036 0.4924 0.7022 0.4967 0.8234 0.7431 0.6057 0.6493 het 124 24 2 153405594 . G A 124 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.967;DP=24;Dels=0.00;FS=1.973;HRun=1;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=0.367;QD=5.17;ReadPosRankSum=0.100;VQSLOD=4.7377;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,6:24:99:154,0,482 2 157406249 157406249 G A exonic GPD2 nonsynonymous SNV GPD2:NM_000408:exon7:c.G791A:p.R264H,GPD2:NM_001083112:exon7:c.G791A:p.R264H 0.66 0.48 0.7 0.78 0.69 0.7 0.6831 0.4801 0.7326 0.7979 0.6487 0.6988 0.6707 0.6679 0.63 0.47 0.71 0.61 0.75 rs2116665 COSM148959 1(breast);1(stomach);1(prostate) . . . . . . . . . . . 0.082 0.332 T 0.02 0.170 B 0.013 0.154 B 0.002 0.383 N 0.142 0.356 P 1.395 0.354 L -0.27 0.674 T -1.55 0.375 N 0.086 0.114 -0.981 0.347 T 0.000 0.000 T . . . 1.173 0.207 11.61 0.986 0.437 0.877 0.471 D c -0.455 -0.414 0.361 0.198 0.706 0.609 0 3.17 0.354 2.019 0.404 1.048 0.713 0.943 0.325 0.004 0.083 10.145 0.417 FAD dependent oxidoreductase|FAD/NAD(P)-binding domain . . 0.6904 0.4727 0.7342 0.7455 0.8 0.6380 0.7023 0.7058 0.6644 0.6378 0.4799 0.7285 0.7550 0.7986 0.6415 0.7018 0.6690 het 1050.53 80 2 157406249 . G A 1050.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.392;DP=80;Dels=0.00;FS=1.468;HRun=0;HaplotypeScore=3.3240;MQ=58.25;MQ0=0;MQRankSum=-1.041;QD=13.13;ReadPosRankSum=2.842;VQSLOD=3.1811;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,38:80:99:1081,0,1206 2 158157361 158157361 C T exonic GALNT5 synonymous SNV GALNT5:NM_014568:exon7:c.C2289T:p.H763H,GALNT5:NM_001329868:exon8:c.C879T:p.H293H 0.8 0.57 0.8 0.84 0.93 0.93 0.8651 0.6066 0.7272 0.8130 0.8486 0.9216 0.8833 0.9287 0.82 0.63 0.92 0.77 0.93 rs3214040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8648 0.6067 0.7439 0.9488 0.8173 0.8493 0.9204 0.8816 0.9311 0.8101 0.6068 0.7854 0.9470 0.8216 0.8525 0.9108 0.8786 hom 2312.59 69 2 158157361 . C T 2312.59 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2611;MQ=59.67;MQ0=0;QD=33.52;VQSLOD=9.5308;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2346,190,0 2 158443889 158443889 G A exonic ACVR1C synonymous SNV ACVR1C:NM_001111032:exon2:c.C114T:p.F38F,ACVR1C:NM_001111033:exon2:c.C114T:p.F38F,ACVR1C:NM_145259:exon2:c.C114T:p.F38F 0.44 0.7 0.43 0.32 0.39 0.27 0.3879 0.6641 0.4224 0.3073 0.2953 0.3894 0.3590 0.2643 0.48 0.66 0.4 0.47 0.25 rs4556933 COSM3757690 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3852 0.6704 0.4216 0.4064 0.3142 0.2922 0.3948 0.3748 0.2708 0.4537 0.6536 0.4354 0.4073 0.3267 0.3026 0.3931 0.3786 het 2983.26 200 2 158443889 . G A 2983.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.849;DP=200;DS;Dels=0.00;FS=2.211;HRun=2;HaplotypeScore=4.5200;MQ=59.19;MQ0=0;MQRankSum=0.696;QD=14.92;ReadPosRankSum=-1.787;VQSLOD=5.2182;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,110:200:99:3013,0,2473 2 158626980 158626980 C T exonic ACVR1 synonymous SNV ACVR1:NM_001105:exon7:c.G690A:p.E230E,ACVR1:NM_001111067:exon7:c.G690A:p.E230E,ACVR1:NM_001347663:exon7:c.G690A:p.E230E,ACVR1:NM_001347664:exon8:c.G690A:p.E230E,ACVR1:NM_001347665:exon8:c.G690A:p.E230E,ACVR1:NM_001347666:exon8:c.G690A:p.E230E,ACVR1:NM_001347667:exon8:c.G690A:p.E230E 0.91 0.74 0.96 0.97 0.99 0.98 0.9642 0.7564 0.9832 0.9682 0.9849 0.9886 0.9681 0.9724 0.91 0.76 0.99 0.9 0.98 rs1146031 . . Benign|Benign not_specified|Progressive_myositis_ossificans RCV000246664.1|RCV000321286.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0016037:135100:ORPHA337:82725007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9695 0.7558 0.9837 0.9818 0.9714 0.9852 0.9890 0.9743 0.9725 0.9196 0.7572 0.9702 0.9735 0.9722 0.9814 0.9871 0.9613 hom 3876.69 120 2 158626980 . C T 3876.69 Mask AC=2;AF=1.00;AN=2;DP=120;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9159;MQ=59.03;MQ0=0;QD=32.31;VQSLOD=9.8969;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3876,310,0 2 158636910 158636910 G A exonic ACVR1 synonymous SNV ACVR1:NM_001105:exon4:c.C270T:p.A90A,ACVR1:NM_001111067:exon4:c.C270T:p.A90A,ACVR1:NM_001347663:exon4:c.C270T:p.A90A,ACVR1:NM_001347664:exon5:c.C270T:p.A90A,ACVR1:NM_001347665:exon5:c.C270T:p.A90A,ACVR1:NM_001347666:exon5:c.C270T:p.A90A,ACVR1:NM_001347667:exon5:c.C270T:p.A90A 0.65 0.18 0.77 0.91 0.78 0.8 0.7502 0.2678 0.8339 0.9279 0.7892 0.7654 0.7830 0.8223 0.6 0.28 0.77 0.59 0.75 rs2227861 . . Benign|Benign not_specified|Progressive_myositis_ossificans RCV000251311.1|RCV000349595.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0016037:135100:ORPHA337:82725007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7629 0.2559 0.8296 0.8061 0.9276 0.7812 0.7620 0.7599 0.8269 0.6417 0.2750 0.8019 0.8245 0.9333 0.7812 0.7692 0.7710 hom 4135.17 121 2 158636910 . G A 4135.17 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7323;MQ=59.62;MQ0=0;QD=34.17;VQSLOD=9.4210;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:4135,328,0 2 159166069 159166069 T C exonic CCDC148 nonsynonymous SNV CCDC148:NM_001301684:exon7:c.A548G:p.K183R,CCDC148:NM_138803:exon9:c.A986G:p.K329R 0.96 0.93 0.94 1. 0.95 0.97 0.9556 0.9345 0.9675 0.9933 0.9453 0.9475 0.9515 0.9780 0.95 0.93 0.95 0.98 0.96 rs7559772 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.003 0.080 B . . . 1.000 0.090 P -1.715 0.003 N 2.14 0.194 T 0.95 0.015 N 0.044 0.044 -0.955 0.401 T 0.000 0.000 T . . . -1.398 0.019 0.003 0.066 0.000 0.049 0.106 N c -1.462 -1.178 0.039 0.144 0.554 0.246 0 3.84 0.433 2.186 0.420 -0.323 0.076 0.989 0.365 0.732 0.317 13.444 0.604 . . . 0.9565 0.9331 0.9650 0.9492 0.9940 0.9419 0.9490 0.9504 0.9788 0.9522 0.9402 0.9535 0.9404 0.9945 0.9442 0.9560 0.9603 hom 3657.16 110 2 159166069 . T C 3657.16 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.54;MQ0=0;QD=33.25;VQSLOD=9.3001;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3657,283,0 2 159663599 159663599 T C exonic DAPL1 nonsynonymous SNV DAPL1:NM_001017920:exon3:c.T179C:p.L60P 0.59 0.54 0.62 0.8 0.43 0.58 0.5072 0.5541 0.7141 0.7918 0.3829 0.4227 0.4868 0.5754 0.47 0.55 0.43 0.6 0.4 rs9869 COSM3721405 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.045 0.473 D 0.763 0.417 P 0.549 0.474 P 0.019 0.274 N 0.000 0.588 P 2.015 0.552 M 1.51 0.309 T -1.55 0.763 N 0.186 0.264 -1.102 0.039 T 0.000 0.000 T . . . 5.751 0.786 27.0 0.999 0.974 0.905 0.515 D c 0.376 0.427 0.760 0.235 0.487 0.133 0 5.64 0.864 4.144 0.576 1.058 0.762 0.998 0.411 0.603 0.289 14.108 0.645 . ENSG00000251491.2|ENSG00000251491.2|ENSG00000251491.2|ENSG00000251491.2|ENSG00000251491.2|ENSG00000243792.1|ENSG00000251491.2|ENSG00000243792.1|ENSG00000251491.2|ENSG00000243792.1|ENSG00000251491.2|ENSG00000163331.6 Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Esophagus_Mucosa|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.5122 0.5555 0.6955 0.4057 0.7970 0.3894 0.4260 0.4765 0.5753 0.4844 0.5515 0.6663 0.3940 0.8066 0.4002 0.4226 0.4735 het 1467.62 116 2 159663599 . T C 1467.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.341;DP=116;Dels=0.00;FS=0.721;HRun=1;HaplotypeScore=1.6545;MQ=58.57;MQ0=0;MQRankSum=0.434;QD=12.65;ReadPosRankSum=0.456;VQSLOD=6.3614;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,60:116:99:1498,0,1384 2 159663616 159663616 G A exonic DAPL1 nonsynonymous SNV DAPL1:NM_001017920:exon3:c.G196A:p.A66T 0.11 0.017 0.14 0.032 0.3 0.11 0.2271 0.0479 0.1055 0.0219 0.3290 0.3148 0.2345 0.1368 0.22 0.058 0.3 0.11 0.28 rs12535 COSM3757693 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.055 T 0.0 0.026 B 0.0 0.013 B 0.225 0.160 N 1.000 0.090 P -0.86 0.015 N 1.41 0.334 T -0.11 0.087 N 0.024 0.310 -0.932 0.438 T 0.000 0.000 T . . . -0.296 0.069 0.678 0.612 0.065 0.006 0.026 N c -0.923 -0.902 0.000 0.054 0.487 0.133 0 1.93 0.249 0.331 0.193 -0.681 0.039 0.070 0.219 0.236 0.225 4.509 0.112 . ENSG00000251491.2|ENSG00000251491.2|ENSG00000251491.2|ENSG00000251491.2|ENSG00000163331.6 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2268 0.0449 0.1204 0.2612 0.0205 0.3270 0.3160 0.2501 0.1357 0.2236 0.0533 0.1196 0.3046 0.0253 0.3081 0.3257 0.2684 het 1193.78 116 2 159663616 . G A 1193.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.221;DP=116;Dels=0.00;FS=3.521;HRun=0;HaplotypeScore=2.3974;MQ=58.57;MQ0=0;MQRankSum=1.101;QD=10.29;ReadPosRankSum=-0.555;VQSLOD=5.8294;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,54:116:99:1224,0,1393 2 160019863 160019863 A G exonic TANC1 nonsynonymous SNV TANC1:NM_001145909:exon8:c.A749G:p.N250S,TANC1:NM_001350064:exon8:c.A752G:p.N251S,TANC1:NM_033394:exon8:c.A752G:p.N251S,TANC1:NM_001350065:exon9:c.A752G:p.N251S 0.98 0.95 1. 1. 1. 0.97 0.9907 0.9583 0.9959 0.9999 0.9998 0.9969 0.9933 0.9724 0.99 0.97 1. 0.99 0.98 rs12466551 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.195 P -0.885 0.014 N 1.24 0.367 T 0.08 0.060 N 0.007 0.003 -0.933 0.437 T 0.000 0.000 T . . . 0.117 0.105 3.785 0.317 0.018 0.161 0.190 N c -0.743 -0.400 1.000 0.747 0.672 0.522 0 5.16 0.704 5.686 0.677 0.138 0.222 1.000 0.715 0.999 0.750 12.987 0.578 . . . 0.9911 0.9569 0.9939 0.9969 0.9999 0.9997 0.9965 0.9936 0.9723 0.9857 0.9561 0.9881 0.9934 1 1 0.9971 0.9939 hom 3961.82 129 2 160019863 . A G 3961.82 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3657;MQ=58.91;MQ0=0;QD=30.71;VQSLOD=7.7475;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:129:99:3961,304,0 2 160035207 160035207 T C exonic TANC1 synonymous SNV TANC1:NM_001350062:exon11:c.T1440C:p.N480N,TANC1:NM_001350063:exon12:c.T1674C:p.N558N,TANC1:NM_001145909:exon14:c.T2019C:p.N673N,TANC1:NM_001350064:exon14:c.T2022C:p.N674N,TANC1:NM_033394:exon14:c.T2043C:p.N681N,TANC1:NM_001350065:exon15:c.T2022C:p.N674N 0.98 0.95 0.99 1. 1. 0.97 0.9904 0.9556 0.9953 0.9999 0.9998 0.9969 0.9933 0.9723 0.99 0.96 1. 0.95 1. rs6748288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9908 0.9543 0.9933 0.9969 0.9999 0.9997 0.9964 0.9932 0.9722 0.9852 0.9547 0.9869 0.9934 1 1 0.9970 0.9939 hom 3719.30 112 2 160035207 . T C 3719.30 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.46;MQ0=0;QD=33.21;VQSLOD=9.4011;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3718,313,0 2 160112881 160112881 G T exonic WDSUB1 nonsynonymous SNV WDSUB1:NM_001330276:exon4:c.C589A:p.R197S,WDSUB1:NM_001307994:exon5:c.C682A:p.R228S,WDSUB1:NM_001330279:exon8:c.C451A:p.R151S,WDSUB1:NM_001330280:exon8:c.C244A:p.R82S,WDSUB1:NM_001128212:exon9:c.C958A:p.R320S,WDSUB1:NM_001128213:exon9:c.C958A:p.R320S,WDSUB1:NM_001330274:exon9:c.C958A:p.R320S,WDSUB1:NM_001330277:exon9:c.C697A:p.R233S,WDSUB1:NM_001330278:exon9:c.C958A:p.R320S,WDSUB1:NM_152528:exon9:c.C958A:p.R320S 0.47 0.74 0.37 0.27 0.54 0.32 0.5046 0.7289 0.3151 0.2466 0.3759 0.5781 0.5066 0.3854 0.62 0.72 0.57 0.56 0.55 rs7591849 COSM148963 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.783 0.036 T 0.0 0.026 B 0.0 0.013 B 0.049 0.232 N 1 0.090 P 0 0.065 N 0.66 0.571 T 0.61 0.125 N 0.037 0.101 -0.947 0.416 T 0.000 0.000 T . . . 2.077 0.311 16.71 0.876 0.168 0.001 0.005 N c -0.975 -0.800 1.000 0.747 0.706 0.609 0 4.37 0.517 0.068 0.143 0.152 0.238 0.000 0.063 0.910 0.387 6.652 0.220 Quinoprotein alcohol dehydrogenase-like superfamily|WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40/YVTN repeat-like-containing domain ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.4912 0.7228 0.3241 0.6278 0.2493 0.3773 0.5821 0.4991 0.3870 0.5611 0.7148 0.3998 0.6192 0.2522 0.3673 0.5622 0.4949 hom 1883.99 68 2 160112881 . G T 1883.99 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=58.52;MQ0=0;QD=27.71;VQSLOD=7.9392;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:1917,150,0 2 160136337 160136337 G A exonic WDSUB1 nonsynonymous SNV WDSUB1:NM_001330279:exon2:c.C11T:p.P4L,WDSUB1:NM_001128212:exon3:c.C518T:p.P173L,WDSUB1:NM_001128213:exon3:c.C518T:p.P173L,WDSUB1:NM_001307994:exon3:c.C518T:p.P173L,WDSUB1:NM_001330274:exon3:c.C518T:p.P173L,WDSUB1:NM_001330276:exon3:c.C518T:p.P173L,WDSUB1:NM_001330277:exon3:c.C257T:p.P86L,WDSUB1:NM_001330278:exon3:c.C518T:p.P173L,WDSUB1:NM_152528:exon3:c.C518T:p.P173L 1. 1. 1. 1. 1. 1. 0.9999 0.9990 1 1 1 1 1 1 1. 1. 1. 0.98 1. rs174264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9991 1 1 1 1 1.0000 0.9998 1 0.9996 0.9987 1 1 1 1 1 1 hom 2180.22 78 2 160136337 . G A 2180.22 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=59.20;MQ0=0;QD=27.95;VQSLOD=8.3622;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2213,163,0 2 160289863 160289863 T C exonic BAZ2B synonymous SNV BAZ2B:NM_001329857:exon8:c.A1116G:p.K372K,BAZ2B:NM_001289975:exon9:c.A1299G:p.K433K,BAZ2B:NM_001329858:exon9:c.A1305G:p.K435K,BAZ2B:NM_013450:exon9:c.A1305G:p.K435K 0.037 0.028 0.037 0.002 0.053 0.069 0.0522 0.0299 0.0360 0.0006 0.0245 0.0566 0.0742 0.0966 0.045 0.028 0.053 0.022 0.041 rs61733380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0519 0.0309 0.0383 0.0918 0.0005 0.0228 0.0559 0.0615 0.0989 0.0402 0.0341 0.0644 0.0762 0.0006 0.0261 0.0488 0.0458 het 1387.47 98 2 160289863 . T C 1387.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.363;DP=98;Dels=0.00;FS=3.174;HRun=0;HaplotypeScore=1.9726;MQ=59.10;MQ0=0;MQRankSum=0.874;QD=14.16;ReadPosRankSum=0.917;VQSLOD=6.0926;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,49:98:99:1417,0,1403 2 160599717 160599717 C G exonic MARCH7 nonsynonymous SNV MARCH7:NM_001282807:exon2:c.C185G:p.T62S,MARCH7:NM_001282806:exon3:c.C299G:p.T100S,MARCH7:NM_022826:exon3:c.C299G:p.T100S,MARCH7:NM_001282805:exon5:c.C299G:p.T100S 0.038 0.0038 0.045 0.024 0.086 0.046 0.0681 0.0140 0.0364 0.0282 0.1220 0.0868 0.0760 0.0482 0.061 0.016 0.085 0.022 0.09 rs17813964 COSM5021329 1(bone) . . . . . . . . . . . 0.498 0.481 T 0.996 0.670 D 0.98 0.732 D 0.059 0.223 N 0.997 0.268 N 1.32 0.331 L 2.68 0.502 T -0.13 0.107 N 0.084 0.168 -1.050 0.144 T 0.012 0.045 T . . . 1.430 0.235 12.94 0.899 0.186 0.991 0.908 D c 0.243 0.366 1.000 0.747 0.646 0.442 0 5.54 0.828 5.502 0.665 0.935 0.490 1.000 0.715 1.000 0.888 17.673 0.881 . ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000230783.1|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000230783.1|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.0688 0.0146 0.0379 0.0504 0.0298 0.1129 0.0899 0.0622 0.0495 0.0684 0.0172 0.0310 0.0633 0.0321 0.1112 0.093 0.0888 het 1669.22 128 2 160599717 . C G 1669.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.367;DP=128;Dels=0.00;FS=3.351;HRun=0;HaplotypeScore=6.0773;MQ=58.17;MQ0=0;MQRankSum=0.153;QD=13.04;ReadPosRankSum=2.319;VQSLOD=3.4439;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,61:128:99:1699,0,1802 2 160604452 160604452 C T exonic MARCH7 synonymous SNV MARCH7:NM_001282806:exon4:c.C483T:p.D161D,MARCH7:NM_001282807:exon4:c.C537T:p.D179D,MARCH7:NM_022826:exon5:c.C651T:p.D217D,MARCH7:NM_001282805:exon7:c.C651T:p.D217D 0.22 0.029 0.49 0.27 0.33 0.12 0.2872 0.0626 0.5201 0.2531 0.3531 0.3158 0.3183 0.1387 0.23 0.069 0.32 0.27 0.38 rs11555185 COSM148965 1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3036 0.0598 0.5211 0.2313 0.2565 0.3589 0.3185 0.3290 0.1390 0.2448 0.0634 0.4557 0.2219 0.2444 0.3569 0.3106 0.2831 het 966.47 90 2 160604452 . C T 966.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.831;DP=90;Dels=0.00;FS=0.793;HRun=1;HaplotypeScore=1.9198;MQ=59.17;MQ0=0;MQRankSum=-0.226;QD=10.74;ReadPosRankSum=1.508;VQSLOD=6.3870;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,42:90:99:996,0,1238 2 160605268 160605268 T C exonic MARCH7 synonymous SNV MARCH7:NM_001282806:exon4:c.T1299C:p.P433P,MARCH7:NM_001282807:exon4:c.T1353C:p.P451P,MARCH7:NM_022826:exon5:c.T1467C:p.P489P,MARCH7:NM_001282805:exon7:c.T1467C:p.P489P 0.89 0.97 0.93 0.73 0.92 0.9 0.9124 0.9627 0.9347 0.7316 0.9354 0.9207 0.9229 0.9164 0.93 0.96 0.91 0.9 0.95 rs1365803 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9130 0.9659 0.9380 0.9328 0.7356 0.9351 0.9177 0.9150 0.9188 0.9231 0.9614 0.9308 0.9040 0.7203 0.9407 0.9184 0.9235 hom 8243.74 250 2 160605268 . T C 8243.74 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.592;DP=250;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.6843;MQ=58.87;MQ0=0;MQRankSum=0.838;QD=32.97;ReadPosRankSum=1.090;VQSLOD=8.2647;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:8212,607,0 2 160673519 160673519 G A exonic LY75;LY75-CD302 nonsynonymous SNV LY75-CD302:NM_001198759:exon30:c.C4178T:p.T1393I,LY75-CD302:NM_001198760:exon30:c.C4178T:p.T1393I,LY75:NM_002349:exon30:c.C4178T:p.T1393I 0.035 0.003 0.045 0.025 0.074 0.043 0.0595 0.0119 0.0308 0.0279 0.1009 0.0749 0.0636 0.0466 0.051 0.012 0.07 0.022 0.057 rs35941588 COSM5021330 1(bone) . . . . . . . . . . . 0.196 0.207 T 0.414 0.339 B 0.15 0.325 B 0.438 0.047 N 1.000 0.198 N 2.2 0.622 M 2.28 0.173 T -1.34 0.334 N 0.275 0.333 -0.999 0.303 T 0.003 0.009 T . . . 2.067 0.309 16.64 0.988 0.464 0.823 0.413 D c -0.139 -0.050 0.992 0.327 0.732 0.924 0 1.44 0.215 1.818 0.384 0.079 0.188 0.974 0.344 0.901 0.381 10.426 0.434 C-type lectin fold|C-type lectin-like ENSG00000226266.2|ENSG00000054219.9|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Testis|Thyroid|Whole_Blood 0.0596 0.0122 0.0327 0.0455 0.0290 0.0961 0.0767 0.0561 0.0466 0.0579 0.0149 0.0227 0.0497 0.0303 0.0937 0.0781 0.0806 het 484.59 41 2 160673519 . G A 484.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.752;DP=41;Dels=0.00;FS=5.573;HRun=1;HaplotypeScore=1.7608;MQ=59.44;MQ0=0;MQRankSum=-1.500;QD=11.82;ReadPosRankSum=-2.699;VQSLOD=3.5169;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,20:41:99:515,0,620 2 160673526 160673526 A G exonic LY75;LY75-CD302 nonsynonymous SNV LY75-CD302:NM_001198759:exon30:c.T4171C:p.Y1391H,LY75-CD302:NM_001198760:exon30:c.T4171C:p.Y1391H,LY75:NM_002349:exon30:c.T4171C:p.Y1391H 0.21 0.029 0.48 0.22 0.33 0.11 0.2873 0.0641 0.5311 0.2120 0.3558 0.3196 0.3235 0.1361 0.23 0.07 0.31 0.26 0.33 rs2059696 COSM148967 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.267 0.162 T 0.003 0.144 B 0.013 0.154 B 0.109 0.195 N 0.984 0.248 P 1.065 0.271 L 2.3 0.170 T -0.63 0.219 N 0.169 0.204 -0.900 0.480 T 0.000 0.000 T . . . 4.008 0.539 23.6 0.973 0.329 0.529 0.290 D c -0.477 -0.312 0.994 0.332 0.732 0.924 0 1.99 0.253 0.864 0.274 0.237 0.263 0.998 0.411 0.992 0.562 5.911 0.181 C-type lectin fold|C-type lectin-like ENSG00000054219.9|ENSG00000224152.1|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Nerve_Tibial|Thyroid|Whole_Blood 0.2940 0.0586 0.5181 0.2170 0.2074 0.3556 0.3099 0.3193 0.1340 0.2395 0.0592 0.4459 0.2219 0.2016 0.3524 0.3084 0.2828 het 602.66 37 2 160673526 . A G 602.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.755;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.38;MQ0=0;MQRankSum=-0.751;QD=16.29;ReadPosRankSum=1.609;VQSLOD=6.3157;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,21:37:99:633,0,446 2 160676427 160676427 C A exonic LY75;LY75-CD302 nonsynonymous SNV LY75-CD302:NM_001198759:exon29:c.G3963T:p.K1321N,LY75-CD302:NM_001198760:exon29:c.G3963T:p.K1321N,LY75:NM_002349:exon29:c.G3963T:p.K1321N 0.85 0.9 0.88 0.91 0.8 0.73 0.8241 0.8897 0.8753 0.8991 0.7991 0.8206 0.7952 0.7336 0.85 0.89 0.83 0.86 0.8 rs12692566 COSM5021331 1(bone) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.063 B . . . 1.000 0.194 P -1.605 0.004 N 3.2 0.073 T 1.95 0.004 N 0.077 0.126 -0.999 0.302 T 0.000 0.000 T . . . 1.926 0.292 15.75 0.396 0.027 0.133 0.176 N c -0.885 -0.595 0.003 0.101 0.732 0.924 0 4.5 0.542 0.517 0.224 0.124 0.212 0.998 0.411 0.997 0.653 3.407 0.069 C-type lectin|C-type lectin fold|C-type lectin-like . . 0.8257 0.8866 0.8795 0.8312 0.8980 0.7926 0.8214 0.8273 0.7304 0.8369 0.8884 0.8640 0.8510 0.8869 0.7955 0.8121 0.7953 hom 1150.35 37 2 160676427 . C A 1150.35 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.84;MQ0=0;QD=31.09;VQSLOD=8.1516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:93.29:1183,93,0 2 160710922 160710922 T C exonic LY75;LY75-CD302 synonymous SNV LY75-CD302:NM_001198759:exon18:c.A2544G:p.A848A,LY75-CD302:NM_001198760:exon18:c.A2544G:p.A848A,LY75:NM_002349:exon18:c.A2544G:p.A848A 0.52 0.74 0.44 0.46 0.57 0.3 0.5289 0.7209 0.4029 0.4316 0.6653 0.5687 0.5519 0.3300 0.62 0.71 0.56 0.53 0.61 rs2729705 COSM4001262 1(bone);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5248 0.7269 0.4145 0.4058 0.4368 0.6591 0.5774 0.5182 0.3351 0.6128 0.7181 0.4117 0.4040 0.4385 0.6552 0.5799 0.5530 hom 2861.42 103 2 160710922 . T C 2861.42 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;QD=27.78;VQSLOD=7.7743;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:2894,217,0 2 160808075 160808075 C T exonic PLA2R1 nonsynonymous SNV PLA2R1:NM_001007267:exon24:c.G3316A:p.G1106S,PLA2R1:NM_001195641:exon24:c.G3316A:p.G1106S,PLA2R1:NM_007366:exon24:c.G3316A:p.G1106S 0.25 0.04 0.28 0.29 0.52 0.19 0.3970 0.0961 0.2885 0.2707 0.6216 0.5017 0.4194 0.2096 0.36 0.11 0.49 0.24 0.53 rs3828323 COSM4998263 1(bone);2(pancreas) . . . . . . . . . . . 0.814 0.036 T 0.0 0.026 B 0.0 0.040 B 0.151 0.030 N 1 0.090 P -0.46 0.027 N 3.39 0.062 T 0.74 0.022 N 0.049 0.041 -0.935 0.433 T 0.000 0.000 T . . . -0.949 0.034 0.020 0.336 0.020 0.024 0.067 N c -1.707 -1.667 0.007 0.114 0.707 0.730 0 -3.0 0.051 -0.474 0.066 -1.839 0.006 0.000 0.063 0.000 0.016 4.591 0.116 . ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000226266.2|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood 0.3990 0.0918 0.3015 0.3012 0.2695 0.6156 0.5080 0.4142 0.2088 0.3893 0.1042 0.2828 0.2980 0.2618 0.6072 0.5197 0.4878 hom 2619.29 84 2 160808075 . C T 2619.29 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=31.18;VQSLOD=9.1858;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2652,208,0 2 160879259 160879259 C T exonic PLA2R1 nonsynonymous SNV PLA2R1:NM_001007267:exon7:c.G1211A:p.R404H,PLA2R1:NM_001195641:exon7:c.G1211A:p.R404H,PLA2R1:NM_007366:exon7:c.G1211A:p.R404H 0.037 0.003 0.03 0.018 0.085 0.059 0.0674 0.0121 0.0234 0.0228 0.1308 0.0843 0.0760 0.0622 0.057 0.013 0.08 0.022 0.057 rs33985939 . . . . . . . . . . . . . 0.301 0.144 T 0.0 0.026 B 0.001 0.040 B 0.650 0.105 N 1.000 0.201 N 0.38 0.122 N 2.22 0.182 T -0.19 0.100 N 0.022 0.013 -0.973 0.365 T 0.001 0.003 T . . . 0.999 0.190 10.66 0.267 0.013 0.058 0.116 N c -1.360 -1.308 0.002 0.089 0.707 0.730 0 -3.66 0.042 0.061 0.141 -0.258 0.088 0.711 0.285 0.934 0.407 7.212 0.250 C-type lectin|C-type lectin fold|C-type lectin-like ENSG00000054219.9|ENSG00000054219.9|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Testis|Thyroid|Whole_Blood 0.0672 0.0123 0.0265 0.0440 0.0211 0.1301 0.0849 0.0679 0.0626 0.0686 0.0153 0.0227 0.0364 0.0278 0.1269 0.0917 0.0978 het 1568.09 131 2 160879259 . C T 1568.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.658;DP=131;Dels=0.00;FS=2.285;HRun=0;HaplotypeScore=4.7431;MQ=59.82;MQ0=0;MQRankSum=-1.145;QD=11.97;ReadPosRankSum=0.382;VQSLOD=4.6648;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,59:131:99:1598,0,1819 2 160885418 160885418 G C exonic PLA2R1 nonsynonymous SNV PLA2R1:NM_001007267:exon5:c.C898G:p.H300D,PLA2R1:NM_001195641:exon5:c.C898G:p.H300D,PLA2R1:NM_007366:exon5:c.C898G:p.H300D 0.25 0.037 0.27 0.35 0.47 0.2 0.3852 0.0931 0.2938 0.3123 0.5091 0.4797 0.4013 0.2387 0.36 0.1 0.49 0.2 0.39 rs35771982 COSM3757707 1(large_intestine) . . . . . . . . . . . 0.634 0.060 T 0.0 0.026 B 0.0 0.013 B 0.583 0.111 N 1 0.090 P -1.01 0.011 N 2.46 0.149 T 0.23 0.046 N 0.03 0.011 -0.932 0.439 T 0.000 0.000 T . . . -1.182 0.026 0.007 0.514 0.045 0.017 0.053 N c -1.565 -1.501 0.784 0.239 0.554 0.246 0 -0.954 0.098 -0.177 0.097 -0.390 0.064 0.000 0.063 0.214 0.220 5.478 0.159 C-type lectin|C-type lectin fold|C-type lectin-like ENSG00000115221.6|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000226266.2|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3878 0.0911 0.3009 0.2784 0.3126 0.5081 0.4922 0.3905 0.2419 0.3677 0.1022 0.2895 0.2384 0.2958 0.5026 0.5007 0.4434 hom 2443.74 82 2 160885418 . G C 2443.74 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=29.80;VQSLOD=8.5123;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2477,190,0 2 160885442 160885442 T C exonic PLA2R1 nonsynonymous SNV PLA2R1:NM_001007267:exon5:c.A874G:p.M292V,PLA2R1:NM_001195641:exon5:c.A874G:p.M292V,PLA2R1:NM_007366:exon5:c.A874G:p.M292V 0.26 0.055 0.27 0.35 0.47 0.2 0.3886 0.1152 0.2983 0.3119 0.5088 0.4814 0.4091 0.2396 0.36 0.12 0.49 0.23 0.35 rs3749117 COSM3757708 1(large_intestine) . . . . . . . . . . . 0.091 0.361 T 0.001 0.090 B 0.005 0.145 B 0.587 0.111 N 0.995 0.233 P 1.575 0.398 L 2.44 0.152 T 0.79 0.021 N 0.086 0.092 -0.936 0.432 T 0.000 0.000 T . . . 0.467 0.139 7.175 0.896 0.184 0.871 0.463 D c -0.297 -0.174 0.998 0.365 0.554 0.246 0 4.64 0.572 3.207 0.506 0.964 0.580 1.000 0.715 0.587 0.286 12.167 0.533 C-type lectin|C-type lectin fold|C-type lectin-like ENSG00000115221.6|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Whole_Blood 0.3904 0.1125 0.3044 0.2832 0.3122 0.5076 0.4933 0.3961 0.2422 0.3752 0.1257 0.2936 0.2450 0.2960 0.5029 0.5018 0.4458 hom 2306.87 75 2 160885442 . T C 2306.87 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.0323;MQ=59.38;MQ0=0;QD=30.76;VQSLOD=8.8039;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2340,178,0 2 160901517 160901517 A G exonic PLA2R1 synonymous SNV PLA2R1:NM_001007267:exon2:c.T261C:p.S87S,PLA2R1:NM_001195641:exon2:c.T261C:p.S87S,PLA2R1:NM_007366:exon2:c.T261C:p.S87S 0.46 0.13 0.66 0.6 0.63 0.43 0.5737 0.2040 0.7173 0.5788 0.6376 0.6305 0.5850 0.4477 0.49 0.22 0.63 0.38 0.59 rs4665143 COSM5428077 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5863 0.1989 0.7125 0.4960 0.5779 0.6388 0.6385 0.5857 0.4480 0.5149 0.2058 0.6766 0.55 0.5801 0.6282 0.6467 0.5871 hom 1758.19 65 2 160901517 . A G 1758.19 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.05;VQSLOD=13.5039;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1791,144,0 2 161029218 161029218 G A exonic ITGB6 synonymous SNV ITGB6:NM_001282354:exon4:c.C498T:p.D166D,ITGB6:NM_001282388:exon5:c.C657T:p.D219D,ITGB6:NM_001282390:exon5:c.C369T:p.D123D,ITGB6:NM_000888:exon6:c.C783T:p.D261D,ITGB6:NM_001282355:exon6:c.C783T:p.D261D,ITGB6:NM_001282389:exon6:c.C564T:p.D188D,ITGB6:NM_001282353:exon7:c.C783T:p.D261D 0.23 0.033 0.26 0.33 0.42 0.16 0.3358 0.0870 0.2698 0.2991 0.4755 0.4091 0.3590 0.2046 0.3 0.094 0.41 0.2 0.32 rs2305818 COSM3757710 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3385 0.0827 0.2750 0.1920 0.3040 0.4728 0.4203 0.3361 0.2089 0.3258 0.0915 0.2590 0.1755 0.2990 0.4733 0.4327 0.4018 hom 6843.28 233 2 161029218 . G A 6843.28 Mask AC=2;AF=1.00;AN=2;DP=233;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.9597;MQ=58.47;MQ0=0;QD=29.37;VQSLOD=5.5003;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,233:233:99:6842,560,0 2 161174693 161174693 C T exonic RBMS1 synonymous SNV RBMS1:NM_002897:exon3:c.G297A:p.T99T,RBMS1:NM_016836:exon3:c.G297A:p.T99T 0.26 0.12 0.21 0.53 0.3 0.17 0.2824 0.1472 0.2531 0.5574 0.3719 0.2971 0.2723 0.1515 0.24 0.15 0.29 0.25 0.19 rs1430 COSM5021334;COSM1400395 1(bone);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2661 0.1310 0.2194 0.1534 0.5180 0.3709 0.2884 0.2462 0.1372 0.2794 0.1512 0.2405 0.1610 0.5631 0.3605 0.3094 0.3249 hom 998.11 36 2 161174693 . C T 998.11 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=27.73;VQSLOD=7.8347;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:78.24:1031,78,0 2 162929979 162929979 A G exonic DPP4 synonymous SNV DPP4:NM_001935:exon2:c.T24C:p.L8L 0.21 0.21 0.17 0.047 0.35 0.28 0.2801 0.2381 0.1797 0.0360 0.2352 0.3317 0.2698 0.3150 0.31 0.24 0.35 0.21 0.34 rs17574 COSM3757711 1(breast);1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2749 0.2368 0.1781 0.3132 0.0361 0.2355 0.3393 0.2878 0.3136 0.2694 0.2371 0.2017 0.2867 0.0432 0.2460 0.3220 0.2633 het 1253.12 119 2 162929979 . A G 1253.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.610;DP=119;Dels=0.00;FS=6.019;HRun=1;HaplotypeScore=5.3103;MQ=58.78;MQ0=0;MQRankSum=-0.169;QD=10.53;ReadPosRankSum=0.180;VQSLOD=4.5179;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,48:119:99:1283,0,1640 2 163124051 163124051 C T exonic IFIH1 nonsynonymous SNV IFIH1:NM_022168:exon15:c.G2836A:p.A946T 0.36 0.13 0.39 0.19 0.61 0.56 0.5047 0.1758 0.4224 0.1737 0.5747 0.5986 0.5286 0.5344 0.46 0.19 0.6 0.34 0.67 rs1990760 COSM4984995 15(soft_tissue) Benign not_specified RCV000245445.1 MedGen CN169374 Type 1 diabetes 1.18 . 17554260 rs1990760 2E-11 0.513 0.074 T 0.105 0.244 B 0.027 0.198 B 0.030 0.253 N 0.208 0.344 P 1.555 0.395 L 0.95 0.433 T 0.19 0.050 N 0.084 0.078 -0.945 0.418 T 0.000 0.000 T . . . 1.521 0.245 13.42 0.755 0.107 0.636 0.319 D c -0.426 -0.317 0.911 0.263 0.707 0.730 0 3.87 0.437 0.750 0.258 0.031 0.150 0.914 0.315 0.859 0.359 7.731 0.278 C-terminal domain of RIG-I . . 0.5041 0.1739 0.4230 0.4546 0.1753 0.5714 0.6067 0.5239 0.5320 0.4589 0.1789 0.4569 0.4834 0.1845 0.5668 0.6187 0.5663 het 1349.20 119 2 163124051 . C T 1349.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.205;DP=119;Dels=0.00;FS=5.638;HRun=3;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;MQRankSum=-0.217;QD=11.34;ReadPosRankSum=0.495;VQSLOD=5.7842;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,53:119:99:1379,0,1641 2 163128824 163128824 T C exonic IFIH1 nonsynonymous SNV IFIH1:NM_022168:exon13:c.A2528G:p.H843R 0.59 0.58 0.77 0.31 0.75 0.6 0.6762 0.6228 0.8287 0.3116 0.6433 0.7291 0.6435 0.5951 0.69 0.62 0.73 0.63 0.83 rs3747517 COSM4418116 1(haematopoietic_and_lymphoid_tissue);1(skin);1(prostate);1(large_intestine) Benign not_specified RCV000253451.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.220 P -2.52 0.001 N 3.83 0.037 T 4.18 0.000 N 0.124 0.140 -0.966 0.380 T 0.000 0.000 T . . . 1.137 0.204 11.42 0.550 0.051 0.321 0.243 N c -0.830 -0.435 1.000 0.404 0.707 0.730 0 5.76 0.907 4.750 0.616 0.069 0.176 1.000 0.715 0.997 0.653 15.098 0.718 Helicase\x2c C-terminal|P-loop containing nucleoside triphosphate hydrolase . . 0.6786 0.6221 0.8193 0.6851 0.3095 0.6423 0.7315 0.6957 0.5899 0.6650 0.6201 0.7792 0.6887 0.3135 0.6418 0.7261 0.6833 het 564.70 45 2 163128824 . T C 564.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DP=45;Dels=0.00;FS=4.491;HRun=0;HaplotypeScore=2.9632;MQ=59.49;MQ0=0;MQRankSum=0.762;QD=12.55;ReadPosRankSum=0.034;VQSLOD=6.0012;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,21:45:99:595,0,667 2 165381542 165381542 C A exonic GRB14 nonsynonymous SNV GRB14:NM_001303422:exon4:c.G389T:p.G130V,GRB14:NM_004490:exon5:c.G650T:p.G217V 0.0066 0.0015 0.0072 . 0.022 0.0041 0.0158 0.0029 0.0132 0.0001 0.0077 0.0225 0.0189 0.0096 0.016 0.0034 0.023 . 0.016 rs34570870 . . . . . . . . . . . . . 0.01 0.564 D 0.138 0.330 B 0.045 0.380 B 0.000 0.843 D 1 0.810 D 2.22 0.631 M 1.87 0.320 T -4.57 0.787 D 0.327 0.420 -1.052 0.138 T 0.062 0.259 T . . . 5.133 0.692 25.4 0.993 0.590 0.975 0.748 D c 0.342 0.476 1.000 0.500 0.706 0.609 0 6.01 0.974 3.162 0.502 0.935 0.490 1.000 0.715 1.000 0.888 16.938 0.860 . . . 0.0150 0.0034 0.0110 0.0183 6.146e-05 0.0080 0.0224 0.0192 0.0096 0.0138 0.0047 0.0096 0.0166 0 0.0049 0.0231 0.0112 het 142.05 25 2 165381542 . C A 142.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.508;DP=25;Dels=0.00;FS=2.044;HRun=1;HaplotypeScore=2.7245;MQ=58.49;MQ0=0;MQRankSum=0.318;QD=5.68;ReadPosRankSum=-1.524;VQSLOD=3.9903;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,7:25:99:172,0,454 2 165476253 165476253 A T exonic GRB14 nonsynonymous SNV GRB14:NM_004490:exon2:c.T268A:p.F90I 0.44 0.18 0.74 0.36 0.68 0.43 0.6060 0.2506 0.8148 0.3481 0.7815 0.6716 0.6167 0.4824 0.52 0.27 0.66 0.47 0.66 rs61748245 COSM3757716 1(large_intestine) . . . . . . . . . . . 0.467 0.085 T 0.022 0.174 B 0.027 0.198 B 0.002 0.368 N 0.997 0.229 P 1.61 0.413 L 2.02 0.414 T -0.29 0.131 N 0.157 0.240 -0.985 0.339 T 0.000 0.000 T . . . 2.550 0.368 19.79 0.958 0.273 0.732 0.355 D c -0.329 -0.141 1.000 0.437 0.615 0.372 0 4.3 0.504 1.781 0.380 0.237 0.263 0.983 0.354 0.999 0.750 8.941 0.347 . . . 0.6182 0.2410 0.8017 0.5929 0.3440 0.7768 0.6661 0.6338 0.4768 0.5551 0.2477 0.7602 0.5795 0.3418 0.7876 0.6820 0.6939 hom 4251.70 149 2 165476253 . A T 4251.70 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9867;MQ=59.24;MQ0=0;QD=28.53;VQSLOD=8.1637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:149:99:4251,319,0 2 165551404 165551404 G A exonic COBLL1 nonsynonymous SNV COBLL1:NM_001278461:exon11:c.C2498T:p.T833I,COBLL1:NM_001278460:exon12:c.C2636T:p.T879I,COBLL1:NM_014900:exon12:c.C2612T:p.T871I,COBLL1:NM_001278458:exon15:c.C2813T:p.T938I 0.053 0.011 0.052 0.033 0.16 0.021 0.1077 0.0292 0.0441 0.0417 0.1985 0.1515 0.0936 0.0240 0.1 0.036 0.14 0.054 0.18 rs17244632 COSM4778232;COSM148972 1(stomach);2(prostate) . . . . . . . . . . . 0.014 0.531 D 0.893 0.503 P 0.383 0.454 B 0.362 0.137 N 1 0.090 P 2.215 0.627 M . . . -2.55 0.551 D 0.037 0.034 -1.080 0.074 T 0.001 0.002 T . . . 3.136 0.437 22.6 0.993 0.585 0.037 0.089 N c -0.305 -0.437 0.999 0.394 0.563 0.310 0 0.63 0.168 1.656 0.367 1.048 0.713 0.011 0.184 0.677 0.304 1.724 0.027 . ENSG00000169507.5 Muscle_Skeletal 0.1046 0.0278 0.0451 0.0546 0.0416 0.1967 0.1508 0.1043 0.0250 0.1154 0.0286 0.0574 0.0397 0.0390 0.1905 0.1597 0.1436 het 900.42 81 2 165551404 . G A 900.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.532;DP=81;Dels=0.00;FS=0.947;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-0.289;QD=11.12;ReadPosRankSum=0.450;VQSLOD=6.0484;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,37:81:99:930,0,1311 2 165987772 165987772 T G exonic SCN3A synonymous SNV SCN3A:NM_001081676:exon16:c.A2400C:p.V800V,SCN3A:NM_001081677:exon16:c.A2400C:p.V800V,SCN3A:NM_006922:exon16:c.A2547C:p.V849V 0.18 0.023 0.18 0.27 0.2 0.29 0.2018 0.0558 0.1852 0.2693 0.1955 0.2039 0.1982 0.2641 0.16 0.065 0.21 0.076 0.2 rs62174900 COSM3757718;COSM3757719 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000153905.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2043 0.0513 0.1889 0.2534 0.2659 0.1920 0.2036 0.1976 0.2593 0.1647 0.0551 0.1882 0.2550 0.2627 0.1949 0.2062 0.1944 het 1884.88 158 2 165987772 . T G 1884.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.707;DP=158;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3639;MQ=58.77;MQ0=0;MQRankSum=0.090;QD=11.93;ReadPosRankSum=0.420;VQSLOD=6.1786;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:82,76:158:99:1915,0,1898 2 165996107 165996107 T A exonic SCN3A synonymous SNV SCN3A:NM_001081676:exon14:c.A1884T:p.T628T,SCN3A:NM_001081677:exon14:c.A1884T:p.T628T,SCN3A:NM_006922:exon14:c.A2031T:p.T677T 0.63 0.73 0.58 0.82 0.42 0.58 0.5068 0.6684 0.6324 0.7955 0.4156 0.4165 0.4890 0.5687 0.5 0.66 0.42 0.65 0.46 rs1946892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5094 0.6656 0.6256 0.4949 0.8021 0.4078 0.4136 0.4847 0.5703 0.5072 0.6567 0.6065 0.5066 0.8238 0.4173 0.4055 0.4510 het 1237.60 87 2 165996107 . T A 1237.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.020;DP=87;Dels=0.00;FS=9.297;HRun=0;HaplotypeScore=2.9967;MQ=58.55;MQ0=0;MQRankSum=-1.608;QD=14.23;ReadPosRankSum=1.280;VQSLOD=3.4159;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,46:87:99:1268,0,1113 2 166003479 166003479 G A exonic SCN3A synonymous SNV SCN3A:NM_001081676:exon12:c.C1441T:p.L481L,SCN3A:NM_001081677:exon12:c.C1441T:p.L481L,SCN3A:NM_006922:exon12:c.C1441T:p.L481L 0.26 0.27 0.2 0.31 0.2 0.29 0.2215 0.2382 0.1958 0.3156 0.1932 0.2030 0.2104 0.2662 0.23 0.25 0.21 0.22 0.21 rs16850131 COSM3757721;COSM3757720 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000081470.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2225 0.2359 0.2045 0.2438 0.3162 0.1906 0.2048 0.2132 0.2648 0.2155 0.2283 0.2148 0.2583 0.2945 0.1929 0.2047 0.2043 het 1130.89 77 2 166003479 . G A 1130.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.385;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9810;MQ=55.72;MQ0=0;MQRankSum=2.077;QD=14.69;ReadPosRankSum=0.621;VQSLOD=2.5203;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,43:77:99:1161,0,966 2 166535883 166535883 G C exonic CSRNP3 nonsynonymous SNV CSRNP3:NM_024969:exon5:c.G1378C:p.V460L,CSRNP3:NM_001172173:exon7:c.G1378C:p.V460L 0.037 0.079 0.043 . 0.04 0.013 0.0288 0.0696 0.0226 0 0.0301 0.0308 0.0363 0.0138 0.042 0.064 0.031 0.011 0.016 rs61738743 . . . . . . . . . . . . . 0.189 0.241 T 0.022 0.174 B 0.015 0.162 B 0.033 0.250 N 0.064 0.371 P 0.695 0.181 N 0.77 0.496 T -0.25 0.110 N 0.136 0.365 -1.070 0.093 T 0.003 0.010 T . . . 1.030 0.193 10.83 0.992 0.534 0.969 0.715 D c -0.174 0.012 0.809 0.243 0.581 0.326 0 4.09 0.469 4.449 0.595 0.953 0.551 1.000 0.715 0.893 0.376 12.128 0.530 . . . 0.0279 0.0706 0.0231 0.0239 5.815e-05 0.0292 0.0313 0.0351 0.0142 0.0357 0.0655 0.0382 0.0331 0 0.0304 0.0243 0.0224 het 1170.08 80 2 166535883 . G C 1170.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.429;DP=80;Dels=0.00;FS=2.087;HRun=0;HaplotypeScore=0.6651;MQ=59.30;MQ0=0;MQRankSum=-1.132;QD=14.63;ReadPosRankSum=0.699;VQSLOD=5.4852;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,42:80:99:1200,0,1131 2 166535918 166535918 C T exonic CSRNP3 synonymous SNV CSRNP3:NM_024969:exon5:c.C1413T:p.T471T,CSRNP3:NM_001172173:exon7:c.C1413T:p.T471T 0.37 0.34 0.31 0.37 0.5 0.31 0.4297 0.3644 0.2579 0.3712 0.5348 0.4925 0.4369 0.3252 0.45 0.37 0.49 0.32 0.34 rs777346 COSM3757722 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4257 0.3614 0.2783 0.4285 0.3721 0.5292 0.4927 0.4240 0.3306 0.4576 0.3756 0.3012 0.4667 0.3918 0.5175 0.5051 0.4805 het 783.46 63 2 166535918 . C T 783.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.631;DP=63;Dels=0.00;FS=3.469;HRun=0;HaplotypeScore=1.7234;MQ=58.29;MQ0=0;MQRankSum=0.256;QD=12.44;ReadPosRankSum=0.145;VQSLOD=5.7220;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,28:63:99:813,0,980 2 166770120 166770120 A G exonic TTC21B synonymous SNV TTC21B:NM_024753:exon16:c.T2175C:p.F725F 0.28 0.26 0.23 0.2 0.36 0.33 0.3302 0.2733 0.2001 0.1986 0.3277 0.3781 0.3230 0.3336 0.35 0.27 0.39 0.22 0.3 rs10176588 COSM4001280 2(haematopoietic_and_lymphoid_tissue) other|Benign|Benign not_specified|Joubert_syndrome|Jeune_thoracic_dystrophy RCV000118724.6|RCV000342863.1|RCV000378916.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT|MedGen:SNOMED_CT CN169374|C0431399:ORPHA475:253175003:716997004|C0265275:75049004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3250 0.2664 0.2104 0.4060 0.1973 0.3263 0.3772 0.3344 0.3336 0.3312 0.2715 0.2554 0.3808 0.1947 0.3364 0.3827 0.3316 het 1000.81 85 2 166770120 . A G 1000.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.517;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=58.45;MQ0=0;MQRankSum=1.029;QD=11.77;ReadPosRankSum=1.718;VQSLOD=6.0828;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,43:85:99:1031,0,939 2 166773971 166773971 G A exonic TTC21B synonymous SNV TTC21B:NM_024753:exon14:c.C1695T:p.Y565Y 0.29 0.31 0.23 0.2 0.37 0.33 0.3331 0.3124 0.2009 0.1982 0.3277 0.3774 0.3223 0.3331 0.36 0.31 0.39 0.22 0.27 rs6750044 COSM4001281 1(haematopoietic_and_lymphoid_tissue) other|Benign|Benign not_specified|Jeune_thoracic_dystrophy|Joubert_syndrome RCV000118722.6|RCV000260738.1|RCV000301142.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0265275:75049004|C0431399:ORPHA475:253175003:716997004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3279 0.3071 0.2124 0.4066 0.1971 0.3262 0.3772 0.3358 0.3335 0.3435 0.3140 0.2584 0.3833 0.1947 0.3361 0.3830 0.3333 het 954.13 87 2 166773971 . G A 954.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.307;DP=87;Dels=0.00;FS=11.547;HRun=0;HaplotypeScore=4.9578;MQ=58.43;MQ0=0;MQRankSum=-0.816;QD=10.97;ReadPosRankSum=-0.540;VQSLOD=3.6627;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,42:87:99:984,0,1239 2 166788336 166788336 T C exonic TTC21B nonsynonymous SNV TTC21B:NM_024753:exon8:c.A826G:p.T276A 0.95 0.81 0.98 1. 1. 1. 0.9853 0.8387 0.9928 1 1 0.9997 0.9945 0.9999 0.95 0.84 1. 0.95 1. rs7592429 . . other|Benign|Benign not_specified|Jeune_thoracic_dystrophy|Joubert_syndrome RCV000118732.6|RCV000306035.1|RCV000407620.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0265275:75049004|C0431399:ORPHA475:253175003:716997004 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.420 N 1.000 0.182 P -2.405 0.001 N 0.79 0.491 T 2.34 0.003 N 0.019 0.004 -0.941 0.425 T 0.000 0.000 T . . . -0.325 0.067 0.582 0.731 0.099 0.026 0.070 N c -1.046 -0.790 0.089 0.161 0.707 0.730 0 2.14 0.264 1.742 0.376 0.016 0.142 0.927 0.319 0.941 0.415 11.458 0.493 Tetratricopeptide-like helical domain . . 0.9886 0.8392 0.9928 0.9999 1 1 0.9995 0.9918 0.9998 0.9541 0.8395 0.9916 1 1 1 0.9995 0.9929 hom 1526.25 54 2 166788336 . T C 1526.25 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;QD=28.26;VQSLOD=8.6464;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1559,114,0 2 166797646 166797646 C T exonic TTC21B nonsynonymous SNV TTC21B:NM_024753:exon6:c.G601A:p.V201M 0.67 0.55 0.75 0.8 0.63 0.67 0.6568 0.5733 0.7953 0.8029 0.6726 0.6227 0.6751 0.6666 0.6 0.59 0.61 0.73 0.69 rs1432273 . . other|Benign|Benign not_specified|Jeune_thoracic_dystrophy|Joubert_syndrome RCV000118729.6|RCV000332739.1|RCV000373358.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0265275:75049004|C0431399:ORPHA475:253175003:716997004 . . . . . . 0.004 0.654 D 0.992 0.629 D 0.942 0.671 D 0.001 0.405 N 0.105 0.360 P 2.81 0.821 M 0.73 0.507 T -2.08 0.475 N 0.123 0.138 -0.975 0.361 T 0.000 0.000 T . . . 5.437 0.737 26.1 0.999 0.943 0.269 0.229 N c 0.064 -0.045 0.096 0.162 0.707 0.730 0 2.52 0.294 0.742 0.257 0.046 0.159 0.132 0.232 0.690 0.307 3.784 0.082 Tetratricopeptide-like helical domain ENSG00000115339.9 Adipose_Subcutaneous 0.6638 0.5743 0.7831 0.5935 0.8035 0.6738 0.6225 0.6589 0.6661 0.6243 0.5727 0.7356 0.6192 0.8066 0.6639 0.6169 0.6602 het 754.32 77 2 166797646 . C T 754.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.558;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7329;MQ=59.40;MQ0=0;MQRankSum=0.167;QD=9.80;ReadPosRankSum=-0.705;VQSLOD=6.4759;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,32:77:99:784,0,1191 2 166892788 166892788 C T exonic SCN1A nonsynonymous SNV SCN1A:NM_001165963:exon16:c.G3199A:p.A1067T,SCN1A:NM_001165964:exon16:c.G3115A:p.A1039T,SCN1A:NM_006920:exon16:c.G3166A:p.A1056T,SCN1A:NM_001202435:exon18:c.G3199A:p.A1067T 0.79 0.85 0.76 0.89 0.69 0.73 0.7252 0.8247 0.8208 0.8979 0.7492 0.6787 0.6707 0.6864 0.72 0.82 0.68 0.72 0.57 rs2298771 COSM3757725;COSM3757723;COSM3757724 1(large_intestine) Benign|other|Benign|Benign Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Familial_hemiplegic_migraine|Seizure_Disorders RCV000030432.1|RCV000079572.10|RCV000338109.1|RCV000401331.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen C3502809|CN169374|C0338484:ORPHA569:95656000|C0014544 . . . . . . 0.644 0.056 T 0.0 0.026 B 0.001 0.040 B 0.797 0.093 N 1 0.090 P -0.49 0.026 N -3.9 0.960 D -0.07 0.080 N 0.095 0.095 -0.930 0.441 T 0.000 0.000 T . . . 1.257 0.216 12.04 0.796 0.124 0.005 0.025 N c -1.318 -1.219 0.000 0.041 0.487 0.133 0 -2.85 0.054 -0.310 0.081 -0.207 0.101 0.000 0.063 0.996 0.625 16.312 0.826 Sodium ion transport-associated ENSG00000144285.11|ENSG00000236107.3 Testis|Testis 0.7249 0.8291 0.8086 0.5979 0.8970 0.7447 0.6781 0.6868 0.6871 0.7482 0.8279 0.7709 0.5894 0.8968 0.7570 0.6860 0.7418 het 938.59 83 2 166892788 . C T 938.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.721;DP=83;Dels=0.00;FS=0.886;HRun=1;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=-1.148;QD=11.31;ReadPosRankSum=-0.779;VQSLOD=5.7526;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,35:83:99:969,0,1315 2 166897864 166897864 A G exonic SCN1A synonymous SNV SCN1A:NM_001165963:exon13:c.T2292C:p.V764V,SCN1A:NM_001165964:exon13:c.T2208C:p.V736V,SCN1A:NM_006920:exon13:c.T2259C:p.V753V,SCN1A:NM_001202435:exon15:c.T2292C:p.V764V 0.79 0.85 0.76 0.89 0.69 0.73 0.7260 0.8257 0.8211 0.8985 0.7502 0.6797 0.6740 0.6863 0.72 0.82 0.68 0.72 0.61 rs6432860 COSM3757728;COSM3757726;COSM3757727 1(large_intestine) Benign|other|Benign|Benign\x2cBenign Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Seizure_Disorders|Familial_hemiplegic_migraine\x2cnot_specified RCV000030431.1|RCV000079565.9|RCV000275349.1|RCV000332804.1\x2cRCV000127878.2 MedGen|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT\x2cMedGen C3502809|CN169374|C0014544|C0338484:ORPHA569:95656000\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7252 0.8298 0.8089 0.5980 0.8972 0.7450 0.6788 0.6876 0.6870 0.7483 0.8286 0.7734 0.5894 0.8983 0.7566 0.6855 0.7428 het 1699.49 132 2 166897864 . A G 1699.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.665;DP=132;Dels=0.00;FS=0.651;HRun=0;HaplotypeScore=1.8305;MQ=59.48;MQ0=0;MQRankSum=1.340;QD=12.87;ReadPosRankSum=0.271;VQSLOD=6.6635;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,66:132:99:1729,0,1720 2 166903445 166903445 T C exonic SCN1A synonymous SNV SCN1A:NM_001165963:exon9:c.A1212G:p.V404V,SCN1A:NM_001165964:exon9:c.A1212G:p.V404V,SCN1A:NM_006920:exon9:c.A1212G:p.V404V,SCN1A:NM_001202435:exon11:c.A1212G:p.V404V 0.71 0.56 0.74 0.89 0.69 0.73 0.7034 0.5748 0.8100 0.8987 0.75 0.6798 0.6685 0.6860 0.64 0.57 0.68 0.6 0.63 rs7580482 COSM3757729;COSM3757731;COSM3757730 1(large_intestine) Benign|other|Benign|Benign Severe_myoclonic_epilepsy_in_infancy|not_specified|Familial_hemiplegic_migraine|Seizure_Disorders RCV000030430.1|RCV000079554.9|RCV000290590.1|RCV000384881.1 MedGen:OMIM:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen C0751122:607208:230437002|CN169374|C0338484:ORPHA569:95656000|C0014544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7074 0.5711 0.7980 0.5982 0.8975 0.7450 0.6787 0.6785 0.6867 0.6768 0.5770 0.7632 0.5894 0.8965 0.7572 0.6856 0.7342 het 1429.62 104 2 166903445 . T C 1429.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.613;DP=104;Dels=0.00;FS=0.769;HRun=0;HaplotypeScore=1.9937;MQ=58.42;MQ0=0;MQRankSum=0.429;QD=13.75;ReadPosRankSum=0.325;VQSLOD=5.3448;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,53:104:99:1460,0,1237 2 167144974 167144974 A T exonic SCN9A synonymous SNV SCN9A:NM_002977:exon10:c.T1287A:p.R429R 0.55 0.8 0.54 0.38 0.49 0.43 0.4944 0.7591 0.5498 0.3871 0.4873 0.4744 0.4866 0.4388 0.56 0.75 0.48 0.61 . rs6747673 COSM4001293;COSM4001294 1(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Benign|Benign|Benign|Benign|Benign|Benign|Benign not_specified|Congenital_Indifference_to_Pain|Paroxysmal_extreme_pain_disorder|Inherited_Erythromelalgia|Severe_myoclonic_epilepsy_in_infancy|Small_fiber_neuropathy|Generalized_epilepsy_with_febrile_seizures_plus|Familial_Febrile_Seizures RCV000118293.4|RCV000267710.1|RCV000282544.1|RCV000292831.1|RCV000317687.1|RCV000318943.1|RCV000372285.1|RCV000387463.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:SNOMED_CT|MedGen|MedGen|MedGen CN169374|C0002768|C1833661:167400:ORPHA46348|CN239438|C0751122:607208:230437002|C3276709|C3502809|CN239386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4932 0.7609 0.5407 0.5044 0.3807 0.4877 0.4752 0.4807 0.4392 0.5660 0.7578 0.5204 0.5 0.3697 0.4946 0.4993 0.5174 het 1404.27 130 2 167144974 . A T 1404.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DP=130;Dels=0.00;FS=6.917;HRun=0;HaplotypeScore=5.2685;MQ=58.45;MQ0=0;MQRankSum=1.332;QD=10.80;ReadPosRankSum=0.218;VQSLOD=4.6861;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,58:130:99:1434,0,1626 2 167144995 167144995 T C exonic SCN9A synonymous SNV SCN9A:NM_002977:exon10:c.A1266G:p.E422E 0.35 0.36 0.32 0.31 0.4 0.37 0.3730 0.3789 0.2689 0.3228 0.4203 0.3958 0.3922 0.3568 0.39 0.38 0.39 0.39 . rs13402180 COSM3757733;COSM3757732 1(large_intestine) other|Benign|Benign|Benign|Benign|Benign|Benign|Benign not_specified|Generalized_epilepsy_with_febrile_seizures_plus|Familial_Febrile_Seizures|Congenital_Indifference_to_Pain|Paroxysmal_extreme_pain_disorder|Small_fiber_neuropathy|Severe_myoclonic_epilepsy_in_infancy|Inherited_Erythromelalgia RCV000118292.4|RCV000289711.1|RCV000309654.1|RCV000344725.1|RCV000352364.1|RCV000359549.1|RCV000397247.1|RCV000399562.1 MedGen|MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:SNOMED_CT|MedGen CN169374|C3502809|CN239386|C0002768|C1833661:167400:ORPHA46348|C3276709|C0751122:607208:230437002|CN239438 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3678 0.3790 0.2762 0.3568 0.3193 0.4168 0.3961 0.3604 0.3562 0.3997 0.3802 0.2812 0.3667 0.3113 0.4266 0.4211 0.4070 het 1618.86 149 2 167144995 . T C 1618.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.004;DP=149;Dels=0.00;FS=2.889;HRun=0;HaplotypeScore=2.6537;MQ=58.36;MQ0=0;MQRankSum=1.042;QD=10.86;ReadPosRankSum=0.917;VQSLOD=5.7057;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,68:149:99:1649,0,1936 2 167145142 167145142 A G exonic SCN9A synonymous SNV SCN9A:NM_002977:exon10:c.T1119C:p.A373A 0.35 0.36 0.32 0.31 0.4 0.37 0.3740 0.3810 0.2698 0.3228 0.4200 0.3965 0.3937 0.3581 0.39 0.38 0.39 0.39 . rs13414203 . . other|Benign|Benign|Benign|Benign|Benign|Benign|Benign not_specified|Paroxysmal_extreme_pain_disorder|Congenital_Indifference_to_Pain|Generalized_epilepsy_with_febrile_seizures_plus|Small_fiber_neuropathy|Inherited_Erythromelalgia|Severe_myoclonic_epilepsy_in_infancy|Familial_Febrile_Seizures RCV000118290.4|RCV000271006.1|RCV000286417.1|RCV000321452.1|RCV000341529.1|RCV000372805.1|RCV000376267.1|RCV000384212.1 MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen|MedGen|MedGen:OMIM:SNOMED_CT|MedGen CN169374|C1833661:167400:ORPHA46348|C0002768|C3502809|C3276709|CN239438|C0751122:607208:230437002|CN239386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3672 0.3777 0.2749 0.3558 0.3167 0.4166 0.3956 0.3615 0.3542 0.3995 0.3796 0.2799 0.3642 0.3131 0.4262 0.4212 0.4049 het 337.73 33 2 167145142 . A G 337.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.459;DP=33;Dels=0.00;FS=1.556;HRun=1;HaplotypeScore=0.5784;MQ=58.15;MQ0=0;MQRankSum=-0.306;QD=10.23;ReadPosRankSum=1.243;VQSLOD=4.8649;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,16:33:99:368,0,437 2 167168093 167168093 C T exonic SCN9A synonymous SNV SCN9A:NM_002977:exon2:c.G174A:p.Q58Q 0.57 0.76 0.46 0.41 0.61 0.54 0.5874 0.7515 0.4332 0.4391 0.5266 0.6253 0.5730 0.5472 0.68 0.76 0.64 0.56 . rs6432901 COSM5458078;COSM5458077 1(large_intestine) other|Benign|Benign|Benign|Benign|Benign|Benign|Benign not_specified|Generalized_epilepsy_with_febrile_seizures_plus|Familial_Febrile_Seizures|Inherited_Erythromelalgia|Congenital_Indifference_to_Pain|Severe_myoclonic_epilepsy_in_infancy|Small_fiber_neuropathy|Paroxysmal_extreme_pain_disorder RCV000118295.3|RCV000265880.1|RCV000271887.1|RCV000310588.1|RCV000323339.1|RCV000358311.1|RCV000363455.1|RCV000380181.1 MedGen|MedGen|MedGen|MedGen|MedGen|MedGen:OMIM:SNOMED_CT|MedGen|MedGen:OMIM:Orphanet CN169374|C3502809|CN239386|CN239438|C0002768|C0751122:607208:230437002|C3276709|C1833661:167400:ORPHA46348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5761 0.7531 0.4548 0.5101 0.4340 0.5361 0.6334 0.5763 0.5425 0.6397 0.7519 0.5049 0.5340 0.4329 0.5450 0.6320 0.5804 het 1847.16 149 2 167168093 . C T 1847.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.418;DP=149;Dels=0.00;FS=1.370;HRun=1;HaplotypeScore=3.3544;MQ=59.69;MQ0=0;MQRankSum=-0.203;QD=12.40;ReadPosRankSum=-0.097;VQSLOD=6.3938;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,72:149:99:1877,0,2075 2 167334085 167334085 G T exonic SCN7A nonsynonymous SNV SCN7A:NM_002976:exon2:c.C122A:p.T41N 0.69 0.75 0.65 0.66 0.66 0.68 0.7247 0.7672 0.7362 0.7236 0.7083 0.7166 0.7257 0.7278 0.7 0.75 0.68 0.63 . rs7565062 COSM4001301;COSM4001302 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.202 0.166 N 1 0.090 P -2.765 0.000 N -3.89 0.978 D 2.18 0.011 N 0.002 0.069 -0.946 0.416 T 0.000 0.000 T . . . -1.887 0.010 0.002 0.096 0.001 0.006 0.025 N c -1.634 -1.508 0.000 0.041 0.487 0.133 0 1.11 0.195 -0.187 0.096 -0.300 0.081 0.000 0.063 0.050 0.164 6.023 0.187 . ENSG00000169432.10 Whole_Blood 0.6838 0.7426 0.6756 0.6760 0.6798 0.6672 0.6769 0.6777 0.7068 0.6853 0.75 0.6727 0.6954 0.6675 0.6618 0.6567 0.6656 het 145.41 11 2 167334085 . G T 145.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.978;DP=11;Dels=0.00;FS=6.990;HRun=2;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=0.382;QD=13.22;ReadPosRankSum=1.377;VQSLOD=4.9511;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,8:11:90.79:175,0,91 2 169721377 169721377 G A exonic NOSTRIN nonsynonymous SNV NOSTRIN:NM_001171632:exon15:c.G1334A:p.G445E,NOSTRIN:NM_052946:exon15:c.G1184A:p.G395E,NOSTRIN:NM_001039724:exon16:c.G1418A:p.G473E,NOSTRIN:NM_001171631:exon21:c.G1589A:p.G530E 0.91 0.96 0.81 0.94 0.83 0.94 0.8639 0.9508 0.8571 0.9076 0.8858 0.8262 0.8731 0.9376 0.87 0.95 0.83 0.91 0.84 rs479661 . . . . . . . . . . . . . 0.848 0.027 T 0.0 0.026 B 0.0 0.040 B 0.021 0.268 N 1.000 0.214 P 0.34 0.105 N 1.64 0.278 T 3.26 0.002 N 0.097 0.181 -0.965 0.382 T 0.000 0.000 T . . . 1.761 0.273 14.75 0.895 0.182 0.032 0.081 N c -0.628 -0.398 0.897 0.260 0.563 0.310 0 4.96 0.650 3.196 0.505 0.238 0.266 1.000 0.715 1.000 0.888 8.843 0.341 SH3 domain ENSG00000163072.10|ENSG00000152253.4|ENSG00000152253.4|ENSG00000163072.10|ENSG00000163072.10|ENSG00000152253.4|ENSG00000152253.4|ENSG00000152253.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pancreas|Thyroid 0.8620 0.9530 0.8490 0.8262 0.9085 0.8837 0.8253 0.8451 0.9365 0.8685 0.9503 0.8341 0.8146 0.9022 0.8813 0.8191 0.8398 hom 2572.64 81 2 169721377 . G A 2572.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.647;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6701;MQ=58.60;MQ0=0;MQRankSum=0.150;QD=31.76;ReadPosRankSum=-0.192;VQSLOD=8.2382;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,80:81:99:2606,197,0 2 169764176 169764176 G C exonic G6PC2 nonsynonymous SNV G6PC2:NM_021176:exon5:c.G655C:p.V219L 0.46 0.31 0.56 0.43 0.44 0.65 0.4865 0.3188 0.6786 0.4302 0.5238 0.4536 0.4879 0.6047 0.41 0.32 0.46 0.41 0.45 rs492594 COSM148982 1(stomach);2(pancreas);5(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.120 0.190 N 1.000 0.588 P -0.575 0.023 N -0.83 0.742 T 0.77 0.020 N 0.036 0.040 -0.937 0.431 T 0.000 0.000 T . . . 0.020 0.095 2.779 0.579 0.057 0.488 0.281 N c -1.002 -0.748 1.000 0.480 0.447 0.083 0 3.06 0.342 2.171 0.418 -0.931 0.025 0.974 0.344 0.343 0.245 5.621 0.166 . ENSG00000152254.6 Skin_Sun_Exposed_Lower_leg 0.4987 0.3179 0.6591 0.5139 0.4287 0.5173 0.4516 0.4896 0.6067 0.4196 0.3115 0.6348 0.4536 0.4229 0.5063 0.4460 0.4661 het 2055.33 180 2 169764176 . G C 2055.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.095;DP=180;DS;Dels=0.00;FS=5.802;HRun=0;HaplotypeScore=1.9494;MQ=59.54;MQ0=0;MQRankSum=-0.041;QD=11.42;ReadPosRankSum=0.699;VQSLOD=5.3179;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:107,73:180:99:2085,0,3083 2 169789016 169789016 T C exonic ABCB11 synonymous SNV ABCB11:NM_003742:exon24:c.A3084G:p.A1028A 0.5 0.23 0.51 0.64 0.53 0.67 0.5557 0.2775 0.6246 0.6209 0.5634 0.5461 0.5891 0.6672 0.45 0.27 0.54 0.46 . rs497692 COSM148984 1(stomach) Benign|Benign not_specified|Familial_Intrahepatic_Cholestasis RCV000246223.3|RCV000324953.1 MedGen|MedGen CN169374|CN239338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5545 0.2646 0.6008 0.6217 0.6204 0.5535 0.5358 0.5492 0.6586 0.4676 0.2680 0.5859 0.6126 0.6359 0.5378 0.5353 0.5337 hom 1424.37 48 2 169789016 . T C 1424.37 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;QD=29.67;VQSLOD=8.4834;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1457,117,0 2 169830328 169830328 A G exonic ABCB11 nonsynonymous SNV ABCB11:NM_003742:exon13:c.T1331C:p.V444A 0.59 0.55 0.45 0.7 0.6 0.6 0.5794 0.5795 0.4204 0.7293 0.5097 0.5943 0.5590 0.5808 0.6 0.59 0.6 0.63 . rs2287622 COSM4415006;COSM4415005 1(haematopoietic_and_lymphoid_tissue);1(skin) Benign|Benign not_specified|Familial_Intrahepatic_Cholestasis RCV000174528.3|RCV000273829.1 MedGen|MedGen CN169374|CN239338 . . . . . . 0.25 0.171 T 0.001 0.067 B 0.003 0.080 B 0.061 0.222 N 0.076 0.368 P 0.145 0.088 N -3.2 0.932 D 0.01 0.069 N 0.08 0.072 -0.896 0.484 T 0.000 0.000 T . . . 1.830 0.281 15.16 0.968 0.307 0.945 0.613 D c -0.427 -0.186 1.000 0.441 0.487 0.133 0 4.62 0.568 2.387 0.438 1.199 0.960 0.971 0.341 0.998 0.697 11.852 0.515 ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase . . 0.5686 0.5710 0.4226 0.5592 0.7273 0.5131 0.5982 0.5613 0.5750 0.5706 0.5576 0.4185 0.5497 0.7126 0.5115 0.5895 0.5204 het 1290.78 87 2 169830328 . A G 1290.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.761;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4726;MQ=57.60;MQ0=0;MQRankSum=0.157;QD=14.84;ReadPosRankSum=-0.098;VQSLOD=4.8399;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,46:87:99:1321,0,1027 2 169952233 169952233 T C exonic DHRS9 synonymous SNV DHRS9:NM_001142271:exon5:c.T916C:p.L306L,DHRS9:NM_001289763:exon5:c.T1096C:p.L366L,DHRS9:NM_001142270:exon6:c.T916C:p.L306L,DHRS9:NM_199204:exon6:c.T916C:p.L306L 0.27 0.42 0.25 0.32 0.18 0.14 0.2214 0.3795 0.2557 0.3182 0.1737 0.1964 0.2412 0.1668 0.26 0.37 0.2 0.26 0.2 rs1059261 COSM3757752;COSM3757751 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2193 0.3801 0.2424 0.2362 0.3197 0.1725 0.1953 0.2262 0.1724 0.2571 0.3844 0.2399 0.2649 0.3327 0.1826 0.1959 0.2184 het 1294.83 87 2 169952233 . T C 1294.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.511;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2886;MQ=59.57;MQ0=0;MQRankSum=-1.215;QD=14.88;ReadPosRankSum=0.210;VQSLOD=4.8280;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:37,50:87:99:1325,0,884 2 169997051 169997051 G A exonic LRP2 synonymous SNV LRP2:NM_004525:exon72:c.C13113T:p.I4371I 0.56 0.27 0.69 0.48 0.73 0.78 0.6839 0.3117 0.7489 0.4525 0.7205 0.7341 0.7018 0.7740 0.6 0.32 0.74 0.42 0.61 rs990626 COSM3757753 1(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117510.3|RCV000272495.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6931 0.3059 0.7353 0.6514 0.4638 0.7152 0.7460 0.6988 0.7732 0.6049 0.3093 0.7422 0.6523 0.4702 0.7215 0.7494 0.6994 hom 1781.74 57 2 169997051 . G A 1781.74 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=31.26;VQSLOD=9.4773;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1815,141,0 2 170003432 170003432 T G exonic LRP2 nonsynonymous SNV LRP2:NM_004525:exon69:c.A12628C:p.I4210L 0.56 0.15 0.73 0.49 0.79 0.81 0.7176 0.2375 0.7843 0.4631 0.7453 0.7851 0.7257 0.8086 0.6 0.24 0.79 0.43 0.75 rs4667591 COSM1401028 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117509.3|RCV000372220.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . 0.0 0.912 D 0.995 0.657 D 0.992 0.790 D 0.000 0.843 N 0.000 0.588 P 3.205 0.894 M -3.03 0.923 D -1.91 0.444 N 0.301 0.361 -0.903 0.477 T 0.000 0.000 T . . . 6.597 0.907 31 0.995 0.698 0.980 0.786 D c 0.732 0.657 1.000 0.432 0.638 0.428 0 4.5 0.542 6.263 0.723 1.061 0.807 1.000 0.715 1.000 0.888 12.950 0.576 Six-bladed beta-propeller\x2c TolB-like . . 0.7261 0.2223 0.7800 0.8445 0.4599 0.7300 0.7850 0.7551 0.8068 0.6054 0.2251 0.7847 0.8212 0.4584 0.7354 0.7908 0.7055 hom 1380.62 44 2 170003432 . T G 1380.62 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=31.38;VQSLOD=9.3841;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1414,108,0 2 170010985 170010985 T C exonic LRP2 nonsynonymous SNV LRP2:NM_004525:exon66:c.A12280G:p.K4094E 0.78 0.92 0.79 0.52 0.76 0.86 0.7621 0.8951 0.8038 0.4841 0.7259 0.7491 0.7517 0.8625 0.8 0.89 0.76 0.73 0.71 rs2075252 COSM4001308 4(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117508.3|RCV000310751.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.983 0.249 P -2.34 0.001 N -2.83 0.913 D 0.93 0.016 N 0.034 0.014 -0.933 0.437 T 0.000 0.000 T . . . 2.044 0.306 16.49 0.335 0.020 0.232 0.218 N c -0.853 -0.564 1.000 0.747 0.554 0.246 0 5.55 0.832 4.866 0.625 0.016 0.142 1.000 0.715 0.219 0.221 14.652 0.683 Six-bladed beta-propeller\x2c TolB-like . . 0.7613 0.8992 0.8002 0.7630 0.4911 0.7185 0.7536 0.7625 0.8601 0.7846 0.8949 0.8158 0.7748 0.4812 0.7202 0.7690 0.7403 hom 1771.69 58 2 170010985 . T C 1771.69 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=30.55;VQSLOD=9.1590;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1805,144,0 2 170032989 170032989 C T exonic LRP2 synonymous SNV LRP2:NM_004525:exon54:c.G10503A:p.Q3501Q 0.38 0.3 0.63 0.11 0.5 0.47 0.4725 0.3188 0.6766 0.1025 0.4603 0.5066 0.4524 0.4887 0.45 0.32 0.52 0.27 0.49 rs2229265 COSM4133222 1(oesophagus);1(thyroid);2(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117498.3|RCV000300800.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4826 0.3165 0.6661 0.4593 0.0972 0.4525 0.5153 0.4951 0.4891 0.4346 0.3115 0.6635 0.4834 0.0901 0.4642 0.5195 0.4827 hom 3467.46 107 2 170032989 . C T 3467.46 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9461;MQ=59.78;MQ0=0;QD=32.41;VQSLOD=9.0464;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3467,289,0 2 170053505 170053505 C T exonic LRP2 nonsynonymous SNV LRP2:NM_004525:exon46:c.G8614A:p.A2872T 0.27 0.2 0.2 0.53 0.26 0.16 0.2677 0.1967 0.1715 0.5647 0.3528 0.2760 0.2661 0.1574 0.24 0.19 0.26 0.24 0.31 rs2228171 COSM3757754 5(soft_tissue);2(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117550.3|RCV000272307.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . 0.962 0.021 T 0.0 0.026 B 0.0 0.013 B 0.177 0.172 N 1 0.090 P 0.17 0.090 N -3.77 0.956 D 0.92 0.016 N 0.013 0.002 -0.933 0.437 T 0.000 0.000 T . . . -1.382 0.020 0.003 0.598 0.062 0.010 0.037 N c -2.236 -2.286 1.000 0.747 0.570 0.322 0 -10.7 0.002 -1.277 0.029 -1.344 0.013 0.000 0.063 0.000 0.016 3.939 0.088 . . . 0.2668 0.1937 0.1739 0.2723 0.5603 0.3592 0.2702 0.2587 0.1609 0.2702 0.1934 0.1794 0.2185 0.5667 0.3531 0.2679 0.2959 het 988.31 104 2 170053505 . C T 988.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.474;DP=104;Dels=0.00;FS=1.016;HRun=0;HaplotypeScore=0.8941;MQ=59.42;MQ0=0;MQRankSum=-0.399;QD=9.50;ReadPosRankSum=-1.212;VQSLOD=6.0039;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,39:104:99:1018,0,1710 2 170099473 170099473 T C exonic LRP2 synonymous SNV LRP2:NM_004525:exon24:c.A3660G:p.A1220A 0.58 0.61 0.62 0.48 0.46 0.75 0.5231 0.6009 0.6833 0.4705 0.3846 0.4531 0.4901 0.7296 0.5 0.61 0.45 0.56 0.44 rs831042 COSM5008422 2(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117527.3|RCV000282794.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5245 0.6064 0.6664 0.5044 0.4740 0.3868 0.4534 0.4960 0.7268 0.4955 0.5972 0.6583 0.4967 0.4783 0.3812 0.4580 0.4612 het 2428.92 241 2 170099473 . T C 2428.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.101;DP=241;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.5868;MQ=59.58;MQ0=0;MQRankSum=1.722;QD=10.08;ReadPosRankSum=-0.095;VQSLOD=4.1548;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:131,109:241:99:2459,0,3602 2 170103336 170103336 T C exonic LRP2 synonymous SNV LRP2:NM_004525:exon21:c.A3069G:p.T1023T 0.62 0.72 0.64 0.48 0.46 0.77 0.5385 0.6920 0.6899 0.4720 0.3848 0.4603 0.5022 0.7500 0.54 0.69 0.46 0.58 0.44 rs831043 COSM5008423 2(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117524.3|RCV000314964.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5379 0.6986 0.6734 0.5390 0.4750 0.3872 0.4587 0.5104 0.7466 0.5244 0.6903 0.6659 0.5265 0.4794 0.3824 0.4614 0.4691 het 1703.56 140 2 170103336 . T C 1703.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.527;DP=140;Dels=0.00;FS=6.391;HRun=1;HaplotypeScore=3.6035;MQ=59.51;MQ0=0;MQRankSum=-2.314;QD=12.17;ReadPosRankSum=1.082;VQSLOD=3.4861;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,67:140:99:1734,0,2117 2 170103351 170103351 G T exonic LRP2 synonymous SNV LRP2:NM_004525:exon21:c.C3054A:p.T1018T 0.46 0.21 0.56 0.48 0.46 0.69 0.4921 0.2761 0.6593 0.4670 0.4209 0.4638 0.4670 0.6682 0.4 0.29 0.46 0.4 0.48 rs2075249 COSM5009638 1(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117523.3|RCV000369606.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5014 0.2814 0.6411 0.5605 0.4708 0.4226 0.4604 0.4861 0.6653 0.4097 0.2759 0.6100 0.5367 0.4701 0.4083 0.4654 0.4469 het 1785.90 127 2 170103351 . G T 1785.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.081;DP=127;Dels=0.00;FS=1.555;HRun=2;HaplotypeScore=7.0148;MQ=59.34;MQ0=0;MQRankSum=0.837;QD=14.06;ReadPosRankSum=-1.091;VQSLOD=4.6911;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,62:127:99:1816,0,1733 2 170115588 170115588 T C exonic LRP2 synonymous SNV LRP2:NM_004525:exon17:c.A2460G:p.T820T 0.62 0.71 0.64 0.48 0.48 0.78 0.5464 0.6887 0.7043 0.4714 0.3904 0.4710 0.5165 0.7553 0.54 0.69 0.47 0.61 0.48 rs2241190 COSM5008424 2(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117518.3|RCV000288847.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5462 0.6955 0.6862 0.5405 0.4750 0.3919 0.4700 0.5293 0.7523 0.5306 0.6866 0.6806 0.5265 0.4804 0.3874 0.4732 0.4805 het 2328.04 185 2 170115588 . T C 2328.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.286;DP=185;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4716;MQ=58.74;MQ0=0;MQRankSum=-0.149;QD=12.58;ReadPosRankSum=1.567;VQSLOD=5.9954;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,93:185:99:2358,0,2222 2 170129528 170129528 G A exonic LRP2 synonymous SNV LRP2:NM_004525:exon15:c.C2025T:p.V675V 0.61 0.5 0.5 0.89 0.66 0.49 0.6245 0.5137 0.4558 0.9105 0.6680 0.6596 0.6663 0.5004 0.61 0.52 0.67 0.54 0.68 rs830994 . . other|Benign not_specified|Donnai_Barrow_syndrome RCV000117515.3|RCV000404343.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6263 0.5150 0.4781 0.7063 0.9166 0.6686 0.6589 0.6403 0.5034 0.6273 0.5151 0.4952 0.6954 0.9276 0.6726 0.6561 0.6265 het 2719.93 205 2 170129528 . G A 2719.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.914;DP=205;DS;Dels=0.00;FS=0.642;HRun=1;HaplotypeScore=3.9620;MQ=58.32;MQ0=0;MQRankSum=0.279;QD=13.27;ReadPosRankSum=-1.131;VQSLOD=5.5012;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,97:205:99:2750,0,2989 2 170175334 170175334 T C exonic LRP2 nonsynonymous SNV LRP2:NM_004525:exon3:c.A248G:p.N83S 0.31 0.48 0.21 0.28 0.28 0.2 0.2783 0.4454 0.1494 0.2813 0.2578 0.2952 0.2654 0.2016 0.34 0.43 0.29 0.38 0.3 rs2229263 COSM4001310 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117519.3|RCV000340258.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . 0.822 0.029 T 0.0 0.102 B 0.001 0.104 B 0.022 0.016 N 1 0.090 P 0.08 0.083 N -3.67 0.953 D -0.06 0.079 N 0.018 0.003 -0.987 0.334 T 0.000 0.000 T . . . -2.266 0.005 0.001 0.294 0.016 0.065 0.124 N c -1.342 -1.380 0.001 0.082 0.615 0.372 0 -6.27 0.018 -0.752 0.049 -0.261 0.088 0.000 0.063 0.462 0.264 2.145 0.035 Low-density lipoprotein (LDL) receptor class A\x2c conserved site . . 0.2719 0.4482 0.1623 0.3349 0.2787 0.2614 0.296 0.2697 0.2 0.3342 0.4580 0.1850 0.3444 0.2724 0.2653 0.2972 0.2699 het 1529.63 147 2 170175334 . T C 1529.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.995;DP=147;Dels=0.00;FS=8.681;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;MQRankSum=0.614;QD=10.41;ReadPosRankSum=-0.590;VQSLOD=4.8391;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,62:147:99:1560,0,2236 2 170218847 170218847 C G exonic LRP2 synonymous SNV LRP2:NM_004525:exon1:c.G63C:p.A21A 0.98 0.95 0.99 1. 1. 1. 0.9971 0.9613 0.9990 1 1 0.9999 0.9965 0.9998 0.99 0.97 1. 0.9 0.28 rs1559014 COSM3749605 1(thyroid);1(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117542.3|RCV000366077.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9977 0.9632 0.9984 1 1 1 0.9999 0.9982 0.9998 0.9902 0.9655 0.9988 1 1 1 0.9999 0.9990 hom 340.60 14 2 170218847 . C G 340.60 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9867;MQ=56.82;MQ0=0;QD=24.33;VQSLOD=5.5895;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:27.09:374,27,0 2 170367099 170367099 G A exonic KLHL41 nonsynonymous SNV KLHL41:NM_006063:exon1:c.G811A:p.A271T 0.06 0.024 0.059 0.015 0.12 0.091 0.0874 0.0391 0.0427 0.0154 0.1083 0.1108 0.1004 0.0833 0.088 0.042 0.11 0.054 0.15 rs28763868 COSM4001311 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000241752.1 MedGen CN169374 . . . . . . 0.507 0.076 T 0.003 0.102 B 0.008 0.127 B 0.012 0.291 N 0.989 0.243 P 0 0.065 N -0.67 0.725 T -0.66 0.191 N 0.004 0.000 -1.085 0.063 T 0.004 0.012 T . . . -2.062 0.007 0.001 0.806 0.128 0.710 0.345 D c -1.561 -1.407 1.000 0.500 0.554 0.283 0 2.57 0.298 3.020 0.491 -0.411 0.061 0.996 0.391 0.152 0.205 10.982 0.465 . . . 0.0862 0.0383 0.0484 0.0731 0.0150 0.1088 0.1132 0.0881 0.0807 0.0801 0.0355 0.0561 0.0993 0.0198 0.1045 0.107 0.0916 het 1432.67 123 2 170367099 . G A 1432.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.919;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4052;MQ=59.15;MQ0=0;MQRankSum=1.032;QD=11.65;ReadPosRankSum=1.357;VQSLOD=6.1719;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,57:123:99:1463,0,1557 2 170402752 170402752 T C exonic FASTKD1 synonymous SNV FASTKD1:NM_001322048:exon7:c.A1608G:p.S536S,FASTKD1:NM_001322049:exon7:c.A1608G:p.S536S,FASTKD1:NM_001281476:exon8:c.A1677G:p.S559S,FASTKD1:NM_001322046:exon8:c.A1677G:p.S559S,FASTKD1:NM_024622:exon8:c.A1677G:p.S559S 0.12 0.014 0.1 0.2 0.068 0.24 0.1104 0.0293 0.1051 0.1913 0.0972 0.0865 0.0940 0.2531 0.065 0.031 0.082 0.087 0.098 rs2290010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1043 0.0267 0.0985 0.0695 0.1864 0.0922 0.0837 0.0922 0.2033 0.0693 0.0252 0.0933 0.0563 0.1782 0.0928 0.0746 0.0998 het 1013.09 86 2 170402752 . T C 1013.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.862;DP=86;Dels=0.00;FS=0.809;HRun=1;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;MQRankSum=0.583;QD=11.78;ReadPosRankSum=1.231;VQSLOD=6.0749;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,42:86:99:1043,0,1140 2 170403030 170403030 T C exonic FASTKD1 nonsynonymous SNV FASTKD1:NM_001322048:exon7:c.A1330G:p.M444V,FASTKD1:NM_001322049:exon7:c.A1330G:p.M444V,FASTKD1:NM_001281476:exon8:c.A1399G:p.M467V,FASTKD1:NM_001322046:exon8:c.A1399G:p.M467V,FASTKD1:NM_024622:exon8:c.A1399G:p.M467V 0.54 0.49 0.67 0.51 0.62 0.48 0.5731 0.5111 0.7159 0.5194 0.5899 0.5753 0.5782 0.5242 0.56 0.5 0.58 0.53 0.45 rs2253680 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.803 0.068 N 1 0.090 P 0.11 0.085 N 2.29 0.171 T -0.67 0.193 N 0.018 0.003 -0.945 0.419 T 0.000 0.000 T . . . -2.969 0.001 0.001 0.258 0.012 0.053 0.110 N c -1.992 -2.059 0.934 0.271 0.707 0.730 0 -9.13 0.006 -0.283 0.084 -0.736 0.035 0.000 0.063 0.000 0.016 3.380 0.068 . ENSG00000144362.7|ENSG00000144362.7|ENSG00000144362.7|ENSG00000144362.7|ENSG00000144362.7|ENSG00000144362.7|ENSG00000144362.7|ENSG00000144362.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5853 0.5141 0.7138 0.6428 0.5202 0.5970 0.5737 0.6140 0.527 0.5643 0.5164 0.6603 0.5767 0.5377 0.6078 0.5784 0.5767 het 1974.04 129 2 170403030 . T C 1974.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.949;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7005;MQ=59.50;MQ0=0;MQRankSum=0.040;QD=15.30;ReadPosRankSum=0.594;VQSLOD=6.5425;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,71:129:99:2004,0,1586 2 170411693 170411693 T C exonic FASTKD1 synonymous SNV FASTKD1:NM_001322048:exon6:c.A1086G:p.L362L,FASTKD1:NM_001322049:exon6:c.A1086G:p.L362L,FASTKD1:NM_001281476:exon7:c.A1155G:p.L385L,FASTKD1:NM_001322046:exon7:c.A1155G:p.L385L,FASTKD1:NM_024622:exon7:c.A1155G:p.L385L 0.68 0.69 0.75 0.76 0.68 0.54 0.6636 0.6874 0.8028 0.7723 0.6416 0.6460 0.6718 0.5737 0.66 0.68 0.65 0.71 0.48 rs2683455 COSM4133232 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6730 0.6902 0.7986 0.7145 0.7754 0.6458 0.6448 0.6887 0.5763 0.6711 0.6940 0.7601 0.6987 0.7815 0.6580 0.6447 0.65 het 980.73 81 2 170411693 . T C 980.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.287;DP=81;Dels=0.00;FS=0.876;HRun=0;HaplotypeScore=0.9832;MQ=58.76;MQ0=0;MQRankSum=-0.685;QD=12.11;ReadPosRankSum=0.723;VQSLOD=5.8702;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,39:81:99:1011,0,1015 2 170493103 170493103 T A exonic PPIG nonsynonymous SNV PPIG:NM_004792:exon14:c.T1335A:p.D445E 0.58 0.76 0.46 0.43 0.54 0.64 0.5724 0.7257 0.4768 0.4306 0.5600 0.5710 0.5634 0.6276 0.62 0.72 0.57 0.59 0.42 rs1050354 COSM148985 1(haematopoietic_and_lymphoid_tissue);1(stomach);8(prostate);1(large_intestine) . . . . . . . . . . . 0.128 0.269 T 0.0 0.170 B 0.001 0.121 B 0.000 0.629 D 0.123 0.357 P 0 0.065 N 2.52 0.211 T 0.17 0.085 N 0.014 0.052 -1.038 0.179 T 0.000 0.000 T . . . 0.855 0.176 9.800 0.956 0.267 0.680 0.334 D c -0.383 -0.163 0.964 0.287 0.732 0.924 0 4.74 0.596 0.658 0.245 1.061 0.807 0.997 0.399 0.999 0.750 10.071 0.413 . ENSG00000144362.7|ENSG00000229827.1|ENSG00000144362.7|ENSG00000144362.7|ENSG00000229827.1|ENSG00000144362.7|ENSG00000229827.1|ENSG00000144362.7|ENSG00000144362.7|ENSG00000229827.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid 0.5580 0.7262 0.4570 0.5545 0.4265 0.5486 0.5689 0.5477 0.6241 0.6027 0.7298 0.4677 0.5728 0.4203 0.5424 0.5718 0.5763 het 457.54 28 2 170493103 . T A 457.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.263;DP=28;Dels=0.00;FS=3.799;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.476;QD=16.34;ReadPosRankSum=-1.673;VQSLOD=4.4283;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,19:28:99:488,0,229 2 170605981 170605981 C T exonic KLHL23;PHOSPHO2-KLHL23 synonymous SNV KLHL23:NM_144711:exon4:c.C1416T:p.G472G,PHOSPHO2-KLHL23:NM_001199290:exon6:c.C1416T:p.G472G 0.99 0.97 1. 1. 1. 1. 0.9976 0.9726 0.9993 1 1 1.0000 0.9989 1 0.99 0.97 1. 0.98 1. rs4667607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9981 0.9716 0.9990 1 1 1 1.0000 0.9991 0.9999 0.9928 0.9744 0.9988 1 1 1 1 1 hom 3056.58 109 2 170605981 . C T 3056.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.700;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5088;MQ=59.36;MQ0=0;MQRankSum=-0.898;QD=28.04;ReadPosRankSum=-1.059;VQSLOD=7.4150;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,107:109:99:3090,253,0 2 171070912 171070912 T C exonic MYO3B synonymous SNV MYO3B:NM_001083615:exon4:c.T345C:p.T115T,MYO3B:NM_138995:exon4:c.T345C:p.T115T 0.42 0.45 0.33 0.45 0.38 0.45 0.4046 0.4326 0.3102 0.4792 0.4044 0.3936 0.4167 0.4590 0.39 0.41 0.39 0.36 0.48 rs13385825 COSM3757766;COSM3757767 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4012 0.4362 0.3100 0.3955 0.4745 0.4137 0.3925 0.3965 0.4677 0.4032 0.4302 0.3329 0.4007 0.4715 0.3978 0.3833 0.4358 het 1705.29 152 2 171070912 . T C 1705.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.221;DP=152;Dels=0.00;FS=5.058;HRun=1;HaplotypeScore=3.4222;MQ=58.82;MQ0=0;MQRankSum=0.195;QD=11.22;ReadPosRankSum=0.398;VQSLOD=5.1422;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,68:152:99:1735,0,2051 2 171073887 171073887 G A exonic MYO3B synonymous SNV MYO3B:NM_001083615:exon6:c.G585A:p.P195P,MYO3B:NM_138995:exon6:c.G585A:p.P195P 0.58 0.63 0.42 0.57 0.56 0.63 0.5554 0.6188 0.3980 0.5931 0.5859 0.5491 0.5567 0.6217 0.58 0.63 0.55 0.54 0.52 rs2161916 COSM3757768 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5489 0.6199 0.3988 0.5861 0.5845 0.5921 0.5461 0.5407 0.6260 0.5617 0.6168 0.4510 0.5430 0.5863 0.5669 0.5312 0.5787 het 2504.46 223 2 171073887 . G A 2504.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.369;DP=223;DS;Dels=0.00;FS=10.697;HRun=0;HaplotypeScore=3.4250;MQ=58.98;MQ0=0;MQRankSum=-0.098;QD=11.23;ReadPosRankSum=-1.393;VQSLOD=4.3272;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:128,95:223:99:2534,0,3618 2 171225841 171225841 A G exonic MYO3B nonsynonymous SNV MYO3B:NM_001083615:exon9:c.A925G:p.K309E,MYO3B:NM_138995:exon9:c.A925G:p.K309E 0.3 0.076 0.42 0.42 0.41 0.3 0.3688 0.1093 0.4766 0.4181 0.4331 0.3920 0.3753 0.3017 0.31 0.11 0.4 0.28 0.4 rs4668246 COSM3736223;COSM3736222 1(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.003 0.080 B 0.042 0.239 N 0.955 0.263 P 0.175 0.091 N -1.09 0.773 T 1.57 0.007 N 0.074 0.318 -0.910 0.469 T 0.000 0.000 T . . . 0.991 0.189 10.61 0.831 0.140 0.692 0.338 D c 0.020 0.137 1.000 0.480 0.554 0.283 0 3.72 0.417 2.175 0.419 1.194 0.916 1.000 0.715 0.998 0.697 7.308 0.255 . . . 0.3787 0.1072 0.4652 0.3594 0.4259 0.4336 0.3956 0.3655 0.3003 0.3261 0.1117 0.4234 0.3567 0.4344 0.4143 0.4103 0.3643 het 1006.27 91 2 171225841 . A G 1006.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.163;DP=91;Dels=0.00;FS=1.728;HRun=0;HaplotypeScore=3.9041;MQ=59.34;MQ0=0;MQRankSum=-0.164;QD=11.06;ReadPosRankSum=-0.881;VQSLOD=6.0367;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,41:91:99:1036,0,1283 2 171242761 171242761 G A exonic MYO3B synonymous SNV MYO3B:NM_001083615:exon13:c.G1353A:p.Q451Q,MYO3B:NM_138995:exon13:c.G1353A:p.Q451Q 0.11 0.046 0.097 0.079 0.16 0.2 0.1555 0.0647 0.0660 0.0885 0.1570 0.1809 0.1403 0.2043 0.14 0.058 0.17 0.087 0.15 rs17497636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1504 0.0630 0.0685 0.1855 0.0895 0.1421 0.1811 0.1490 0.2010 0.1417 0.0688 0.0827 0.2185 0.0880 0.1572 0.1861 0.1701 het 501.47 55 2 171242761 . G A 501.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.841;DP=55;Dels=0.00;FS=3.910;HRun=1;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;MQRankSum=0.094;QD=9.12;ReadPosRankSum=-0.623;VQSLOD=6.1707;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,23:55:99:531,0,808 2 171260787 171260787 G A exonic MYO3B nonsynonymous SNV MYO3B:NM_001083615:exon20:c.G2308A:p.V770I,MYO3B:NM_138995:exon20:c.G2308A:p.V770I 0.78 0.68 0.89 0.73 0.9 0.76 0.8507 0.7091 0.8427 0.6937 0.9273 0.9040 0.8764 0.7745 0.84 0.73 0.9 0.77 0.88 rs6736609 . . . . . . . . . . . . . 0.215 0.193 T 0.0 0.026 B 0.003 0.080 B 0.230 0.159 N 1 0.090 P 0.28 0.100 N -2.21 0.870 D -0.12 0.088 N 0.053 0.260 -0.982 0.347 T 0.000 0.000 T . . . -0.791 0.041 0.045 0.674 0.081 0.021 0.062 N c -1.624 -1.707 0.475 0.207 0.554 0.246 0 -7.46 0.012 -0.002 0.128 -1.077 0.019 0.000 0.063 0.004 0.083 14.019 0.639 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.8543 0.7071 0.8511 0.9167 0.6946 0.9267 0.9007 0.8833 0.7744 0.8368 0.7177 0.8636 0.9073 0.6788 0.9235 0.8968 0.8816 hom 6194.76 210 2 171260787 . G A 6194.76 Mask AC=2;AF=1.00;AN=2;DP=210;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2231;MQ=58.52;MQ0=0;QD=29.50;VQSLOD=8.4901;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,210:210:99:6193,502,0 2 171260820 171260820 T C exonic MYO3B synonymous SNV MYO3B:NM_001083615:exon20:c.T2341C:p.L781L,MYO3B:NM_138995:exon20:c.T2341C:p.L781L 0.78 0.68 0.89 0.73 0.9 0.77 0.8509 0.7093 0.8426 0.6951 0.9273 0.9041 0.8767 0.7749 0.84 0.73 0.9 0.77 0.9 rs6751520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8546 0.7073 0.8513 0.9166 0.6953 0.9265 0.9008 0.8835 0.7757 0.8365 0.7179 0.8640 0.9073 0.6792 0.9233 0.8963 0.8816 hom 4826.63 149 2 171260820 . T C 4826.63 Mask AC=2;AF=1.00;AN=2;DP=149;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9385;MQ=58.76;MQ0=0;QD=32.39;VQSLOD=9.6591;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4826,373,0 2 171355198 171355198 A G exonic MYO3B synonymous SNV MYO3B:NM_001083615:exon26:c.A3111G:p.V1037V,MYO3B:NM_138995:exon26:c.A3111G:p.V1037V 0.98 0.95 0.98 0.99 1. 0.99 0.9911 0.9459 0.9697 0.9919 1 0.9997 0.99 0.9939 0.98 0.95 1. 0.97 0.98 rs6761297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9914 0.9434 0.9744 1 0.9922 1 0.9997 0.9929 0.9941 0.9847 0.9492 0.9869 1 0.9938 1 0.9996 0.9949 hom 3165.94 95 2 171355198 . A G 3165.94 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=59.76;MQ0=0;QD=33.33;VQSLOD=9.5875;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3199,253,0 2 171356274 171356274 G A exonic MYO3B nonsynonymous SNV MYO3B:NM_001083615:exon27:c.G3245A:p.R1082K,MYO3B:NM_138995:exon27:c.G3245A:p.R1082K 0.9 0.68 0.95 0.99 1. 0.99 0.9721 0.7320 0.9608 0.9919 1 0.9987 0.9822 0.9930 0.92 0.74 1. 0.85 0.99 rs10185178 . . . . . . . . . . . . . 0.724 0.039 T 0.001 0.119 B 0.008 0.127 B 0.000 0.537 D 0.341 0.330 P -0.345 0.033 N -0.53 0.708 T 0.31 0.044 N 0.062 0.253 -0.935 0.434 T 0.000 0.000 T . . . 0.610 0.152 8.222 0.819 0.134 0.796 0.392 D c -0.687 -0.439 0.083 0.159 0.554 0.283 0 3.88 0.438 1.085 0.302 0.128 0.215 1.000 0.715 0.980 0.490 9.298 0.368 IQ motif\x2c EF-hand binding site|P-loop containing nucleoside triphosphate hydrolase . . 0.9758 0.7310 0.9635 0.9988 0.9923 1 0.9986 0.9825 0.9930 0.9271 0.7488 0.9701 0.9967 0.9938 1 0.999 0.9837 hom 3417.59 112 2 171356274 . G A 3417.59 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.7887;MQ=58.31;MQ0=0;QD=30.51;VQSLOD=9.0401;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3417,262,0 2 171572940 171572940 G A exonic SP5 nonsynonymous SNV SP5:NM_001003845:exon2:c.G223A:p.A75T 0.44 0.51 0.46 0.6 0.3 0.31 0.3800 0.5040 0.5016 0.5852 0.3591 0.3363 0.3446 0.3020 0.38 0.48 0.33 0.076 0.23 rs3749036 COSM3749606 2(thyroid);12(large_intestine) . . . . . . . . . . . 0.599 0.056 T 0.0 0.026 B 0.0 0.013 B 0.000 0.457 D 0.980 0.251 P -0.895 0.014 N 3.02 0.090 T 0.72 0.021 N 0.017 0.003 -0.997 0.307 T 0.000 0.000 T . . . 1.066 0.196 11.03 0.974 0.335 0.534 0.291 D c -0.976 -0.837 1.000 0.747 0.598 0.340 0 0.867 0.181 0.440 0.212 0.875 0.382 0.002 0.151 0.969 0.458 3.349 0.067 . ENSG00000128683.9|ENSG00000222033.1|ENSG00000128683.9|ENSG00000128683.9|ENSG00000128683.9|ENSG00000128683.9 Adipose_Subcutaneous|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Thyroid 0.3790 0.5028 0.4795 0.3480 0.5875 0.3251 0.3312 0.3614 0.2966 0.3936 0.4875 0.4450 0.3377 0.5870 0.3208 0.3372 0.3309 het 556.72 35 2 171572940 . G A 556.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.138;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.47;MQ0=0;MQRankSum=0.589;QD=15.91;ReadPosRankSum=0.320;VQSLOD=6.5162;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,21:35:99:587,0,319 2 172188368 172188368 C T exonic METTL8 synonymous SNV METTL8:NM_001321161:exon5:c.G531A:p.P177P,METTL8:NM_001321162:exon6:c.G516A:p.P172P,METTL8:NM_001321160:exon7:c.G666A:p.P222P 0.13 0.14 0.13 . 0.24 0.17 0.2511 0.1958 0.1683 0.0034 0.3427 0.3069 0.2711 0.1873 0.22 0.16 0.25 0.098 0.2 rs13023973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1903 0.1628 0.1035 0.2195 0.0023 0.2758 0.2402 0.1980 0.1565 0.2100 0.1603 0.1148 0.2086 0.0025 0.2752 0.2507 0.2229 het 101.55 10 2 172188368 . C T 101.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.668;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.103;QD=10.15;ReadPosRankSum=-0.336;VQSLOD=11.9026;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:132,0,122 2 172216969 172216969 T C exonic METTL8 synonymous SNV METTL8:NM_001321161:exon2:c.A63G:p.K21K,METTL8:NM_001321162:exon3:c.A48G:p.K16K,METTL8:NM_001321160:exon4:c.A198G:p.K66K 0.31 0.48 0.26 0.15 0.33 0.28 0.3084 0.4664 0.1670 0.1342 0.3354 0.3377 0.3245 0.2678 0.38 0.46 0.35 0.38 0.31 rs3731986 COSM4001322;COSM4001320;COSM4001321 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3004 0.4689 0.1806 0.3909 0.1322 0.3417 0.3342 0.3114 0.2584 0.3621 0.4618 0.2124 0.3477 0.1469 0.3438 0.3431 0.3221 het 835.74 66 2 172216969 . T C 835.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.687;DP=66;Dels=0.00;FS=3.368;HRun=1;HaplotypeScore=4.8965;MQ=57.69;MQ0=0;MQRankSum=0.532;QD=12.66;ReadPosRankSum=1.020;VQSLOD=4.7565;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:32,34:66:99:866,0,844 2 172411273 172411273 G A exonic CYBRD1 nonsynonymous SNV CYBRD1:NM_001256909:exon4:c.G623A:p.S208N,CYBRD1:NM_024843:exon4:c.G797A:p.S266N 0.68 0.93 0.6 0.4 0.67 0.72 0.6517 0.8829 0.5658 0.3709 0.6288 0.6666 0.6073 0.6640 0.73 0.88 0.66 0.69 0.64 rs10455 . . . . . . . . . . . . . 0.926 0.023 T 0.0 0.026 B 0.001 0.040 B 0.315 0.144 N 1.000 0.350 P -0.28 0.037 N 0.39 0.574 T 0.06 0.064 N 0.005 0.001 -0.926 0.447 T 0.000 0.000 T . . . -0.592 0.050 0.131 0.422 0.031 0.059 0.117 N c -1.527 -1.493 0.999 0.394 0.732 0.924 0 -3.33 0.046 -1.082 0.035 -0.647 0.041 0.002 0.151 0.859 0.359 20.026 0.975 Cytochrome b561/ferric reductase transmembrane ENSG00000071967.7 Cells_Transformed_fibroblasts 0.6418 0.8887 0.5791 0.5890 0.3746 0.6270 0.6713 0.6303 0.6603 0.7128 0.8893 0.6172 0.5497 0.3717 0.6223 0.6791 0.6728 het 1038.43 91 2 172411273 . G A 1038.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.809;DP=91;Dels=0.00;FS=1.690;HRun=1;HaplotypeScore=0.8941;MQ=59.11;MQ0=0;MQRankSum=0.235;QD=11.41;ReadPosRankSum=1.220;VQSLOD=6.6018;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,43:91:99:1068,0,1309 2 172725301 172725301 A G exonic SLC25A12 synonymous SNV SLC25A12:NM_003705:exon3:c.T99C:p.Y33Y 0.79 0.58 0.73 0.92 0.92 0.86 0.8567 0.6236 0.7071 0.9015 0.9008 0.9097 0.8822 0.8518 0.81 0.63 0.91 0.76 0.83 rs1878583 . . Benign Hypomyelination\x2c_global_cerebral RCV000313636.1 MedGen:OMIM:Orphanet C2751855:612949:ORPHA353217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8552 0.6202 0.7132 0.9062 0.9079 0.8846 0.9118 0.8771 0.8505 0.8235 0.6350 0.7332 0.8940 0.9106 0.8900 0.9087 0.8663 het 1279.78 74 2 172725301 . A G 1279.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.672;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4105;MQ=59.24;MQ0=0;MQRankSum=0.765;QD=17.29;ReadPosRankSum=-0.358;VQSLOD=6.1683;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,44:74:99:1310,0,696 2 172966250 172966250 T C exonic DLX2 synonymous SNV DLX2:NM_004405:exon2:c.A525G:p.Q175Q 0.36 0.1 0.31 0.66 0.39 0.4 0.4103 0.1530 0.3469 0.6359 0.4827 0.4184 0.4148 0.4304 0.31 0.15 0.4 0.32 0.3 rs2228184 COSM3766522 1(urinary_tract);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4021 0.1443 0.3405 0.3124 0.6319 0.4631 0.4112 0.3751 0.4251 0.3576 0.1501 0.3672 0.3245 0.6301 0.4696 0.4192 0.4224 het 409.76 27 2 172966250 . T C 409.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.180;DP=27;Dels=0.00;FS=4.678;HRun=0;HaplotypeScore=4.3179;MQ=56.39;MQ0=1;MQRankSum=-0.052;QD=15.18;ReadPosRankSum=-0.311;VQSLOD=2.6677;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,15:27:99:440,0,290 2 173339808 173339808 G A exonic ITGA6 nonsynonymous SNV ITGA6:NM_000210:exon7:c.G1138A:p.A380T,ITGA6:NM_001079818:exon7:c.G1138A:p.A380T,ITGA6:NM_001316306:exon7:c.G781A:p.A261T 0.25 0.33 0.22 0.093 0.28 0.31 0.2810 0.3351 0.2593 0.0910 0.2727 0.2928 0.3084 0.3156 0.31 0.34 0.3 0.33 0.32 rs11895564 COSM3757775;COSM3757774;COSM3757773 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Epidermolysis_bullosa_junctionalis_with_pyloric_atresia RCV000279397.1 MedGen:OMIM:Orphanet C1856934:226730:ORPHA79403 . . . . . . 0.145 0.251 T 0.571 0.453 P 0.389 0.580 B 0.000 0.559 D 0.000 0.524 P 1.89 0.503 L -0.7 0.728 T -1.58 0.381 N 0.292 0.418 -1.136 0.015 T 0.000 0.000 T . . . 3.009 0.422 22.3 0.999 0.944 0.947 0.618 D c 0.222 0.269 1.000 0.489 0.707 0.730 0 4.46 0.534 3.205 0.505 0.017 0.142 1.000 0.715 0.921 0.396 13.351 0.599 . ENSG00000226963.1 Nerve_Tibial 0.2798 0.3352 0.2597 0.3450 0.0889 0.2655 0.2960 0.2805 0.3118 0.2847 0.3284 0.2812 0.3311 0.0852 0.2676 0.2834 0.2955 hom 2072.36 71 2 173339808 . G A 2072.36 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.74;MQ0=0;QD=29.19;VQSLOD=7.5848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2105,169,0 2 173352103 173352103 C T exonic ITGA6 synonymous SNV ITGA6:NM_000210:exon15:c.C2082T:p.D694D,ITGA6:NM_001079818:exon15:c.C2082T:p.D694D,ITGA6:NM_001316306:exon15:c.C1725T:p.D575D 0.35 0.2 0.36 0.54 0.22 0.46 0.2974 0.2140 0.4465 0.5436 0.3436 0.2177 0.3216 0.4184 0.21 0.22 0.21 0.29 0.19 rs2293649 COSM3757776;COSM3757778;COSM3757777 1(thyroid);1(large_intestine) Benign Epidermolysis_bullosa_junctionalis_with_pyloric_atresia RCV000324684.1 MedGen:OMIM:Orphanet C1856934:226730:ORPHA79403 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3054 0.2120 0.4300 0.2557 0.5400 0.3433 0.2116 0.2911 0.4152 0.2531 0.2088 0.4069 0.2715 0.5333 0.3467 0.2136 0.3173 hom 3479.74 112 2 173352103 . C T 3479.74 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=31.07;VQSLOD=9.5529;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3479,274,0 2 174055646 174055646 T C exonic MAP3K20 synonymous SNV MAP3K20:NM_016653:exon6:c.T439C:p.L147L,MAP3K20:NM_133646:exon6:c.T439C:p.L147L 0.14 0.31 0.082 . 0.11 0.14 0.1061 0.2566 0.0539 0.0008 0.0534 0.1010 0.1139 0.1456 0.15 0.24 0.1 0.13 0.13 rs35853276 COSM4827968;COSM4827967 1(cervix) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1002 0.2623 0.0620 0.1679 0.0005 0.0506 0.0978 0.1040 0.1412 0.1314 0.2595 0.0861 0.2053 0.0019 0.0471 0.0934 0.1053 het 844.34 88 2 174055646 . T C 844.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.103;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.40;MQ0=0;MQRankSum=-2.232;QD=9.59;ReadPosRankSum=-0.060;VQSLOD=4.9610;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,33:88:99:874,0,1420 2 174128513 174128513 C T exonic MAP3K20 nonsynonymous SNV MAP3K20:NM_016653:exon19:c.C1592T:p.S531L 0.25 0.022 0.29 0.21 0.48 0.31 0.3871 0.0883 0.1965 0.2524 0.4636 0.4927 0.3806 0.3111 0.37 0.094 0.49 0.2 0.41 rs3769148 COSM3757779 1(large_intestine) . . . . . . . . . . . 0.036 0.433 D 0.002 0.090 B 0.0 0.013 B 0.759 0.096 N 1 0.090 P 1.01 0.254 L -0.98 0.758 T -1.4 0.346 N 0.032 0.021 -0.955 0.402 T 0.000 0.000 T . . . 1.134 0.203 11.40 0.926 0.214 0.175 0.196 N c -1.195 -1.180 1.000 0.462 0.732 0.924 0 0.342 0.152 0.595 0.236 0.852 0.362 0.000 0.063 0.522 0.275 2.427 0.042 . . . 0.3846 0.0825 0.2105 0.4582 0.2570 0.4625 0.4947 0.4006 0.3111 0.3483 0.0895 0.2446 0.4272 0.2902 0.4549 0.4813 0.3961 het 1447.82 133 2 174128513 . C T 1447.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.128;DP=133;Dels=0.00;FS=0.825;HRun=2;HaplotypeScore=3.7168;MQ=58.99;MQ0=0;MQRankSum=0.273;QD=10.89;ReadPosRankSum=-0.296;VQSLOD=6.3608;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,53:133:99:1478,0,2259 2 174820750 174820750 T C exonic SP3 nonsynonymous SNV SP3:NM_001017371:exon2:c.A286G:p.T96A,SP3:NM_001172712:exon4:c.A481G:p.T161A,SP3:NM_003111:exon4:c.A490G:p.T164A 0.13 0.0061 0.092 0.34 0.12 0.11 0.1322 0.0232 0.1146 0.3017 0.1742 0.1288 0.1322 0.1216 0.088 0.026 0.12 0.065 0.11 rs1047640 COSM148990;COSM4383326 1(stomach);6(soft_tissue);4(prostate);1(large_intestine) . . . . . . . . . . . 0.32 0.135 T 0.001 0.067 B 0.002 0.063 B 0.000 0.843 D 0.023 0.399 P 1.06 0.271 L 3.62 0.044 T -0.08 0.102 N 0.064 0.211 -0.925 0.449 T 0.000 0.000 T . . . -0.435 0.059 0.318 0.977 0.351 0.847 0.435 D c -0.237 -0.001 1.000 0.747 0.707 0.730 0 5.95 0.964 3.066 0.494 1.061 0.807 1.000 0.715 1.000 0.888 16.407 0.834 . . . 0.1357 0.0218 0.1206 0.1188 0.2982 0.1805 0.1281 0.1158 0.1216 0.1175 0.0256 0.1158 0.1391 0.2877 0.1783 0.1371 0.1334 het 2439.72 182 2 174820750 . T C 2439.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.596;DP=182;DS;Dels=0.00;FS=1.906;HRun=0;HaplotypeScore=4.7146;MQ=58.73;MQ0=0;MQRankSum=-1.951;QD=13.41;ReadPosRankSum=-0.129;VQSLOD=4.4015;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:93,89:182:99:2470,0,2364 2 175289259 175289259 G T exonic SCRN3 nonsynonymous SNV SCRN3:NM_001193528:exon7:c.G953T:p.S318I,SCRN3:NM_024583:exon7:c.G974T:p.S325I 0.011 . 0.011 . 0.041 0.0041 0.0277 0.0066 0.0156 0.0001 0.0381 0.0400 0.0265 0.0104 0.032 0.0095 0.044 0.011 0.016 rs41270195 . . . . . . . . . . . . . 0.249 0.172 T 0.005 0.119 B 0.007 0.121 B 0.020 0.271 N 1 0.090 N 1.46 0.370 L 3.08 0.085 T -0.45 0.148 N 0.068 0.055 -0.982 0.345 T 0.003 0.010 T . . . 0.338 0.127 6.060 0.745 0.104 0.066 0.124 N c -1.082 -1.092 0.000 0.069 0.732 0.924 0 -0.677 0.107 0.105 0.151 0.154 0.240 0.000 0.063 0.918 0.393 1.026 0.014 . . . 0.0274 0.0063 0.0151 0.0171 0.0001 0.0391 0.0415 0.0259 0.0103 0.0311 0.0081 0.0180 0.0166 0 0.0432 0.0457 0.0377 het 786.09 65 2 175289259 . G T 786.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.422;DP=65;Dels=0.00;FS=3.487;HRun=2;HaplotypeScore=0.9867;MQ=59.14;MQ0=0;MQRankSum=1.155;QD=12.09;ReadPosRankSum=0.403;VQSLOD=6.1935;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,29:65:99:816,0,985 2 175436940 175436940 G A exonic WIPF1 nonsynonymous SNV WIPF1:NM_001077269:exon5:c.C593T:p.P198L,WIPF1:NM_003387:exon5:c.C593T:p.P198L 0.91 0.81 0.97 0.99 0.95 0.87 0.9411 0.8431 0.9688 0.9906 0.9757 0.9564 0.9233 0.8810 0.92 0.85 0.96 0.85 0.81 rs4972450 . . Benign not_specified RCV000455771.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.058 0.224 N 0.905 0.276 P -2.28 0.001 N 1.68 0.390 T 1.02 0.075 N 0.029 0.039 -0.966 0.381 T 0.000 0.000 T . . . 0.950 0.185 10.37 0.707 0.091 0.053 0.110 N c -0.920 -0.655 1.000 0.480 0.707 0.730 0 5.02 0.666 2.498 0.448 0.228 0.256 1.000 0.715 0.942 0.416 10.491 0.437 . . . 0.9447 0.8371 0.9683 0.9317 0.9923 0.9762 0.9561 0.9492 0.8843 0.9292 0.8450 0.9558 0.8940 0.9926 0.9774 0.9571 0.9612 hom 3199.12 105 2 175436940 . G A 3199.12 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=30.47;VQSLOD=9.5056;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3232,250,0 2 177016728 177016728 T C exonic HOXD4 nonsynonymous SNV HOXD4:NM_014621:exon1:c.T367C:p.S123P 0.24 0.41 0.19 0.023 0.31 0.19 0.2642 0.3815 0.1451 0.0230 0.2864 0.3193 0.2595 0.1810 0.32 0.34 0.3 0.16 0.26 rs34727427 COSM3757784 1(large_intestine) . . . . . . . . . . . 0.325 0.133 T 0.0 0.026 B 0.0 0.013 B 0.195 0.033 N 0.000 0.588 P 0.445 0.128 N -2.85 0.914 D 0.03 0.066 N 0.013 0.003 -1.067 0.101 T 0.000 0.000 T . . . 1.004 0.190 10.68 0.945 0.244 0.263 0.227 N c -0.671 -0.490 1.000 0.500 0.646 0.450 0 2.91 0.328 1.926 0.395 -0.040 0.125 1.000 0.715 0.997 0.653 8.922 0.346 . ENSG00000128645.11|ENSG00000128652.7|ENSG00000226363.3|ENSG00000224189.2|ENSG00000128652.7|ENSG00000128645.11|ENSG00000128652.7|ENSG00000128652.7|ENSG00000128645.11|ENSG00000128652.7|ENSG00000128645.11|ENSG00000128652.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.2561 0.3733 0.1574 0.3686 0.0210 0.2832 0.3132 0.2777 0.1822 0.3009 0.3840 0.1730 0.3576 0.0148 0.2738 0.2986 0.2592 het 566.21 56 2 177016728 . T C 566.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.718;DP=56;Dels=0.00;FS=2.668;HRun=3;HaplotypeScore=2.4533;MQ=59.33;MQ0=0;MQRankSum=1.619;QD=10.11;ReadPosRankSum=-0.701;VQSLOD=6.1854;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,28:56:99:596,0,780 2 177034121 177034121 G T exonic HOXD3 synonymous SNV HOXD3:NM_006898:exon2:c.G279T:p.P93P 0.18 0.2 0.18 0.022 0.31 0.18 0.2488 0.2199 0.1367 0.0256 0.2836 0.3156 0.2522 0.1800 0.28 0.22 0.31 0.27 0.24 rs34729309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2468 0.2186 0.1486 0.3473 0.0249 0.2876 0.3146 0.2656 0.1820 0.2558 0.2237 0.1671 0.3444 0.0210 0.2777 0.2985 0.2490 het 970.70 63 2 177034121 . G T 970.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.159;DP=63;Dels=0.00;FS=7.854;HRun=0;HaplotypeScore=0.8321;MQ=59.70;MQ0=0;MQRankSum=0.463;QD=15.41;ReadPosRankSum=-0.394;VQSLOD=4.5604;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,35:63:99:1001,0,741 2 177036754 177036754 T C exonic HOXD3 synonymous SNV HOXD3:NM_006898:exon3:c.T1051C:p.L351L 0.82 0.95 0.8 0.77 0.68 0.86 0.7602 0.9002 0.8913 0.7727 0.7207 0.6914 0.7660 0.8585 0.75 0.88 0.68 0.75 0.56 rs1051929 COSM329400 1(haematopoietic_and_lymphoid_tissue);1(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7581 0.8994 0.8671 0.6927 0.7724 0.7083 0.6858 0.7507 0.8555 0.7578 0.8938 0.8174 0.6854 0.7596 0.7095 0.6900 0.7251 het 338.47 25 2 177036754 . T C 338.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.082;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=-2.638;QD=13.54;ReadPosRankSum=0.245;VQSLOD=4.5850;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:368,0,409 2 177054769 177054769 G A exonic HOXD1 nonsynonymous SNV HOXD1:NM_024501:exon2:c.G886A:p.A296T 0.19 0.33 0.15 0.015 0.25 0.13 0.2009 0.3019 0.1131 0.0220 0.2227 0.2402 0.2053 0.1245 0.26 0.3 0.23 0.22 0.17 rs6710142 . . . . . . . . . . . . . 0.2 0.203 T 0.024 0.178 B 0.005 0.121 B 0.005 0.331 N 1 0.090 P 1.445 0.365 L -2.71 0.906 D -0.65 0.189 N 0.006 0.000 -1.101 0.039 T 0.000 0.000 T . . . 0.577 0.149 7.999 0.877 0.168 0.299 0.237 N c -0.952 -0.907 1.000 0.408 0.658 0.486 0 1.3 0.207 0.186 0.167 0.032 0.150 0.000 0.063 0.014 0.122 3.167 0.061 . ENSG00000128645.11|ENSG00000226363.3|ENSG00000226363.3|ENSG00000128645.11|ENSG00000128645.11|ENSG00000128652.7|ENSG00000128645.11|ENSG00000128652.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Lung|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.1978 0.3024 0.1253 0.2812 0.0211 0.2231 0.2385 0.2140 0.1282 0.2320 0.3077 0.1348 0.2881 0.0179 0.2174 0.2216 0.1922 het 3179.02 238 2 177054769 . G A 3179.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-11.234;DP=238;DS;Dels=0.00;FS=1.721;HRun=0;HaplotypeScore=6.5013;MQ=58.92;MQ0=0;MQRankSum=1.167;QD=13.36;ReadPosRankSum=-0.564;VQSLOD=4.6877;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,127:238:99:3209,0,3226 2 178417142 178417142 C T exonic TTC30B nonsynonymous SNV TTC30B:NM_152517:exon1:c.G350A:p.R117H 0.89 0.83 0.91 0.97 0.87 0.89 0.8632 0.8360 0.9294 0.9782 0.8716 0.8396 0.8656 0.8647 0.85 0.85 0.85 0.87 0.8 rs11694988 COSM4133256 1(thyroid) . . . . . . . . . . . 0.014 0.531 D 0.944 0.512 P 0.416 0.432 B 0.000 0.497 D 0.001 0.456 P 2.08 0.576 M -1.21 0.787 T -2.55 0.551 D 0.23 0.308 -0.995 0.312 T 0.000 0.000 T . . . 4.552 0.610 24.4 0.999 0.975 0.717 0.349 D c 0.240 0.280 1.000 0.747 0.519 0.209 1 4.3 0.504 3.066 0.494 0.928 0.438 1.000 0.715 0.877 0.367 15.472 0.751 Tetratricopeptide-like helical domain ENSG00000237655.1|ENSG00000237655.1|ENSG00000237655.1|ENSG00000237655.1|ENSG00000237655.1 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Testis|Thyroid 0.8685 0.8389 0.9215 0.8236 0.9788 0.8707 0.8437 0.8594 0.8679 0.8596 0.8388 0.9141 0.8146 0.9735 0.8669 0.8548 0.8694 het 3085.22 201 2 178417142 . C T 3085.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.032;DP=201;DS;Dels=0.00;FS=3.203;HRun=0;HaplotypeScore=10.0483;MQ=58.84;MQ0=0;MQRankSum=-0.004;QD=15.35;ReadPosRankSum=0.770;VQSLOD=3.3450;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,104:201:99:3115,0,2264 2 178494173 178494173 - GGA exonic PDE11A nonframeshift insertion PDE11A:NM_001077196:exon17:c.1431_1432insTCC:p.S477_P478insS,PDE11A:NM_001077358:exon19:c.1689_1690insTCC:p.S563_P564insS,PDE11A:NM_016953:exon20:c.2763_2764insTCC:p.S921_P922insS,PDE11A:NM_001077197:exon21:c.2013_2014insTCC:p.S671_P672insS 0.59 0.2 0.79 0.7 0.74 0.7 0.6933 0.2903 0.8370 0.6932 0.8217 0.7303 0.6971 0.6449 0.0069 0.0059 0.0075 . . rs72535720 COSM5016735;COSM5016736 1(kidney);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7106 0.2865 0.8317 0.6633 0.6892 0.8197 0.7355 0.7073 0.6479 0.6282 0.3016 0.7900 0.6733 0.6599 0.8203 0.7524 0.7592 het 6481.87 247 2 178494173 . G GGGA 6481.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.516;DP=247;DS;FS=3.749;HRun=0;HaplotypeScore=826.2169;MQ=57.57;MQ0=0;MQRankSum=-1.466;QD=26.14;ReadPosRankSum=-0.280;set=variant2 GT:AD:DP:GQ:PL 0/1:141,103:247:99:6482,0,4579 2 178682603 178682603 T C exonic PDE11A synonymous SNV PDE11A:NM_001077196:exon5:c.A294G:p.A98A,PDE11A:NM_001077358:exon7:c.A552G:p.A184A,PDE11A:NM_016953:exon8:c.A1626G:p.A542A,PDE11A:NM_001077197:exon9:c.A876G:p.A292A 0.42 0.73 0.26 0.31 0.32 0.32 0.3339 0.6437 0.1918 0.3163 0.2239 0.3217 0.3570 0.3375 0.42 0.62 0.32 0.52 0.28 rs6720891 COSM3757786;COSM3757785 1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3222 0.6505 0.2054 0.3801 0.3136 0.2319 0.3216 0.3335 0.3377 0.3937 0.6498 0.2596 0.3907 0.3327 0.2404 0.3011 0.3020 het 415.30 57 2 178682603 . T C 415.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.881;DP=57;Dels=0.00;FS=1.102;HRun=1;HaplotypeScore=0.0000;MQ=56.73;MQ0=0;MQRankSum=-1.683;QD=7.29;ReadPosRankSum=0.811;VQSLOD=2.2140;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,17:57:99:445,0,1060 2 178762824 178762824 T C exonic PDE11A synonymous SNV PDE11A:NM_001077358:exon3:c.A189G:p.E63E,PDE11A:NM_016953:exon4:c.A1263G:p.E421E,PDE11A:NM_001077197:exon5:c.A513G:p.E171E 0.06 0.0061 0.073 0.015 0.14 0.092 0.1168 0.0250 0.0490 0.0168 0.2340 0.1469 0.1222 0.1054 0.11 0.031 0.15 0.054 0.17 rs71423514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1161 0.0258 0.0464 0.0944 0.0171 0.2263 0.1485 0.1141 0.1020 0.1207 0.0248 0.0597 0.0861 0.0062 0.2213 0.1663 0.1711 het 1632.12 110 2 178762824 . T C 1632.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.958;DP=110;Dels=0.00;FS=2.468;HRun=0;HaplotypeScore=3.9779;MQ=59.08;MQ0=0;MQRankSum=0.093;QD=14.84;ReadPosRankSum=1.166;VQSLOD=5.4911;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,62:110:99:1662,0,1180 2 178936373 178936373 T G exonic PDE11A synonymous SNV PDE11A:NM_016953:exon1:c.A792C:p.T264T 0.89 0.79 0.91 1. 0.87 0.91 0.8740 0.8058 0.9449 0.9998 0.8060 0.8569 0.8877 0.8972 0.83 0.81 0.85 0.72 0.79 rs1435573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8782 0.8039 0.9462 0.9054 0.9998 0.8105 0.8539 0.8863 0.9001 0.8396 0.8096 0.9284 0.9172 1 0.8189 0.8383 0.8340 het 2001.32 150 2 178936373 . T G 2001.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.256;DP=150;DS;Dels=0.00;FS=3.489;HRun=2;HaplotypeScore=2.6132;MQ=59.44;MQ0=0;MQRankSum=-1.009;QD=13.34;ReadPosRankSum=1.009;VQSLOD=5.9255;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:80,68:150:99:2031,0,2212 2 178936614 178936614 C T exonic PDE11A nonsynonymous SNV PDE11A:NM_016953:exon1:c.G551A:p.R184Q 0.99 0.97 0.99 1. 1. 1. 0.9980 0.9799 0.9984 0.9993 1 0.9999 1 1 0.99 0.98 1. 0.97 1. rs6433711 COSM4133260 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.418 N 0.998 0.810 P -1.67 0.004 N -0.23 0.667 T 0.9 0.016 N 0.085 0.112 -0.939 0.428 T 0.000 0.000 T . . . 2.286 0.336 18.08 0.472 0.038 0.196 0.205 N c -0.807 -0.483 1.000 0.747 0.603 0.348 0 5.28 0.740 4.673 0.611 0.087 0.193 1.000 0.715 1.000 0.888 10.446 0.435 . . . 0.9984 0.9792 0.9986 1 0.9994 1 0.9999 0.9995 0.9998 0.9935 0.9777 0.9976 1 1 1 0.9999 0.9969 hom 6722.39 200 2 178936614 . C T 6722.39 Mask AC=2;AF=1.00;AN=2;DP=200;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5340;MQ=59.40;MQ0=0;QD=33.61;VQSLOD=5.8839;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6722,524,0 2 179203797 179203797 G A exonic OSBPL6 synonymous SNV OSBPL6:NM_145739:exon8:c.G807A:p.S269S,OSBPL6:NM_001201480:exon10:c.G870A:p.S290S,OSBPL6:NM_001201481:exon10:c.G870A:p.S290S,OSBPL6:NM_001201482:exon10:c.G870A:p.S290S,OSBPL6:NM_032523:exon10:c.G870A:p.S290S 0.92 0.87 0.94 0.97 0.9 0.95 0.9283 0.8870 0.9503 0.9681 0.9457 0.9180 0.9251 0.9529 0.91 0.89 0.91 0.88 0.88 rs1434087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9285 0.8902 0.9447 0.9087 0.9679 0.9455 0.9152 0.9195 0.9520 0.9199 0.8849 0.9391 0.9040 0.9729 0.9470 0.9262 0.9399 hom 1214.44 40 2 179203797 . G A 1214.44 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.36;VQSLOD=13.7971;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:93.30:1247,93,0 2 179400130 179400130 G A exonic TTN nonsynonymous SNV TTN:NM_003319:exon186:c.C74017T:p.R24673C,TTN:NM_133432:exon187:c.C74392T:p.R24798C,TTN:NM_133437:exon187:c.C74593T:p.R24865C,TTN:NM_133378:exon307:c.C93508T:p.R31170C,TTN:NM_001256850:exon308:c.C96289T:p.R32097C,TTN:NM_001267550:exon358:c.C101212T:p.R33738C 0.0028 . 0.011 . 0.005 0.001 0.0056 0.0014 0.0057 0 0.0054 0.0078 0.0078 0.0022 0.0074 0.0023 0.0098 . . rs56273463 COSM6026451;COSM6026447;COSM6026448;COSM6026449;COSM6026450 2(large_intestine) other|Likely benign|Likely benign|Uncertain significance|Uncertain significance|Uncertain significance|Uncertain significance|Uncertain significance|Uncertain significance|Benign|Benign not_specified|not_provided|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Dilated_Cardiomyopathy\x2c_Dominant|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Limb-girdle_muscular_dystrophy\x2c_type_2J RCV000040902.8|RCV000118798.5|RCV000251517.1|RCV000279616.1|RCV000299708.1|RCV000334610.1|RCV000349947.1|RCV000404458.1|RCV000407040.1|RCV000466684.1|RCV000466684.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen:OMIM|MedGen:OMIM:Orphanet CN169374|CN221809|CN230736|HP:0001639:C0007194:ORPHA217569|C2673677:611705:ORPHA289377|CN239352|CN239310|C1838244:600334:ORPHA609|C1863599:603689:ORPHA178464|C1858763:604145|C1837342:608807:ORPHA140922 . . . . . . 0.035 0.437 D 1.0 0.899 D 0.998 0.875 D . . . 1 0.810 D 2.25 0.640 M 0.35 0.580 T -5.78 0.932 D 0.448 0.549 -0.405 0.719 T 0.287 0.659 T . . . 4.268 0.572 23.9 0.969 0.310 0.986 0.849 D c 0.844 0.824 1.0 0.983 0.476 0.093 0 5.52 0.821 7.967 0.874 1.048 0.713 1.000 0.715 0.996 0.625 19.811 0.965 Fibronectin type III|Immunoglobulin-like fold . . 0.0056 0.0012 0.0040 0.0045 0 0.0044 0.0085 0.0084 0.0025 0.0055 0.0017 0.0072 0.0033 0 0.0046 0.0084 0.0051 het 1594.32 121 2 179400130 . G A 1594.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.884;DP=121;Dels=0.00;FS=7.243;HRun=0;HaplotypeScore=1.9980;MQ=58.92;MQ0=0;MQRankSum=-1.057;QD=13.18;ReadPosRankSum=-0.901;VQSLOD=3.9213;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,57:121:99:1624,0,1789 2 179444768 179444768 C G exonic TTN nonsynonymous SNV TTN:NM_003319:exon146:c.G40051C:p.A13351P,TTN:NM_133432:exon147:c.G40426C:p.A13476P,TTN:NM_133437:exon147:c.G40627C:p.A13543P,TTN:NM_133378:exon267:c.G59542C:p.A19848P,TTN:NM_001256850:exon268:c.G62323C:p.A20775P,TTN:NM_001267550:exon318:c.G67246C:p.A22416P 0.99 0.98 1. 1. 1. 1. 0.9986 0.9862 0.9988 1 1 0.9997 1 1 1. 0.99 1. 1. . rs4145333 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Distal_myopathy_Markesbery-Griggs_type|Dilated_Cardiomyopathy\x2c_Dominant|Hypertrophic_cardiomyopathy|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Hereditary_myopathy_with_early_respiratory_failure|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy RCV000040520.7|RCV000248869.1|RCV000282280.1|RCV000286185.1|RCV000317492.1|RCV000339521.1|RCV000374422.1|RCV000407028.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN169374|CN230736|C1838244:600334:ORPHA609|CN239310|HP:0001639:C0007194:ORPHA217569|CN239352|C1863599:603689:ORPHA178464|C2673677:611705:ORPHA289377 . . . . . . 0.371 0.139 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.145 0.044 N 0.46 0.563 T -0.07 0.080 N 0.068 0.067 -1.003 0.291 T 0.000 0.000 T . . . -0.011 0.093 2.486 0.804 0.127 0.111 0.163 N c -1.308 -1.191 0.077 0.158 0.554 0.246 0 1.82 0.241 0.887 0.277 -0.642 0.041 0.547 0.271 0.829 0.346 0.542 0.006 Fibronectin type III|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like domain . . 0.9987 0.9849 0.9988 1 1 1 0.9997 0.9993 1 0.9969 0.9895 0.9988 1 1 1 0.9999 0.9990 hom 5042.27 156 2 179444768 . C G 5042.27 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=58.44;MQ0=0;QD=32.32;VQSLOD=9.1559;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:5042,388,0 2 179558366 179558366 T C exonic TTN nonsynonymous SNV TTN:NM_133378:exon116:c.A27832G:p.I9278V,TTN:NM_001256850:exon117:c.A30613G:p.I10205V,TTN:NM_001267550:exon119:c.A31564G:p.I10522V 0.48 0.59 0.42 0.57 0.25 0.52 0.3536 0.5674 0.4494 0.5761 0.2636 0.2457 0.3235 0.5004 0.33 0.56 0.23 0.49 . rs2042995 COSM4418695;COSM4418696 2(haematopoietic_and_lymphoid_tissue) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy\x2c_Dominant|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Hereditary_myopathy_with_early_respiratory_failure|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type RCV000040122.6|RCV000252593.1|RCV000286778.1|RCV000289856.1|RCV000341794.1|RCV000344790.1|RCV000380675.1|RCV000397932.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet CN169374|CN230736|CN239310|C2673677:611705:ORPHA289377|C1863599:603689:ORPHA178464|CN239352|HP:0001639:C0007194:ORPHA217569|C1838244:600334:ORPHA609 . . . . . . 1.0 0.010 T . . . . . . . . . 1.000 0.588 P . . . 0.18 0.605 T 0.28 0.042 N 0.023 0.176 -1.002 0.292 T 0.000 0.000 T . . . 1.533 0.246 13.49 0.713 0.093 0.108 0.160 N c -0.181 0.002 0.197 0.181 0.487 0.133 0 5.85 0.936 1.455 0.346 0.066 0.173 0.989 0.365 0.983 0.502 9.311 0.369 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13|ENSG00000271011.1 Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Thyroid 0.3362 0.5576 0.4319 0.2672 0.5716 0.2530 0.2271 0.3001 0.4793 0.3459 0.5499 0.4233 0.2417 0.5661 0.2424 0.2289 0.2888 het 164.24 26 2 179558366 . T C 164.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.617;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.07;MQ0=0;MQRankSum=0.593;QD=6.32;ReadPosRankSum=0.916;VQSLOD=5.2722;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,9:26:99:194,0,379 2 179585266 179585266 C T exonic TTN synonymous SNV TTN:NM_133378:exon77:c.G19491A:p.Q6497Q,TTN:NM_001256850:exon78:c.G22272A:p.Q7424Q,TTN:NM_001267550:exon80:c.G23223A:p.Q7741Q 0.98 0.93 0.99 1. 1. 1. 0.9950 0.9435 0.9973 1 1 0.9997 0.9989 0.9999 0.98 0.94 1. 0.99 . rs2562831 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy\x2c_Dominant|Hereditary_myopathy_with_early_respiratory_failure|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive RCV000039984.9|RCV000254037.1|RCV000271518.1|RCV000296181.1|RCV000325238.1|RCV000331319.1|RCV000365884.1|RCV000385735.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet|MedGen CN169374|CN230736|CN239310|C1863599:603689:ORPHA178464|C2673677:611705:ORPHA289377|HP:0001639:C0007194:ORPHA217569|C1838244:600334:ORPHA609|CN239352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9958 0.9430 0.9969 1 1 1 0.9996 0.9982 0.9999 0.9841 0.9447 0.9940 1 1 1 0.9999 0.9980 hom 1014.57 35 2 179585266 . C T 1014.57 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.99;VQSLOD=13.9924;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:81.25:1048,81,0 2 179600563 179600563 G A exonic TTN synonymous SNV TTN:NM_133378:exon47:c.C10878T:p.S3626S,TTN:NM_001256850:exon48:c.C13659T:p.S4553S,TTN:NM_001267550:exon50:c.C14610T:p.S4870S 0.98 0.93 0.99 1. 1. 1. 0.9949 0.9424 0.9974 1 1 0.9997 0.9989 0.9999 0.98 0.94 1. 0.99 . rs2742348 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Distal_myopathy_Markesbery-Griggs_type|Dilated_Cardiomyopathy\x2c_Dominant|Hereditary_myopathy_with_early_respiratory_failure|Hypertrophic_cardiomyopathy|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy RCV000039860.9|RCV000245943.1|RCV000266820.1|RCV000302107.1|RCV000306880.1|RCV000345343.1|RCV000359096.1|RCV000397599.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet CN169374|CN230736|CN239352|C1838244:600334:ORPHA609|CN239310|C1863599:603689:ORPHA178464|HP:0001639:C0007194:ORPHA217569|C2673677:611705:ORPHA289377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9957 0.9416 0.9968 1 1 1 0.9996 0.9982 0.9999 0.9840 0.9445 0.9928 1 1 1 0.9999 0.9980 hom 2128.36 68 2 179600563 . G A 2128.36 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;QD=31.30;VQSLOD=9.5934;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2161,172,0 2 179614952 179614952 A G exonic TTN synonymous SNV TTN:NM_133379:exon46:c.T12175C:p.L4059L 0.97 0.91 1. 1. 1. 1. 0.9926 0.9200 0.9970 1 1 0.9997 0.9912 0.9998 0.97 0.92 1. 0.95 1. rs10803917 . . Benign not_specified RCV000041012.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9945 0.9208 0.9971 1 1 1 0.9998 0.9965 0.9998 0.9759 0.9159 0.9940 1 1 1 0.9999 0.9969 hom 2811.94 85 2 179614952 . A G 2811.94 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.08;MQ0=0;QD=33.08;VQSLOD=8.7217;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2845,226,0 2 179615887 179615887 T C exonic TTN nonsynonymous SNV TTN:NM_133379:exon46:c.A11240G:p.D3747G 0.73 0.57 0.64 0.78 0.91 0.78 0.8271 0.6001 0.5361 0.7529 0.8854 0.9251 0.8473 0.7889 0.82 0.6 0.93 0.72 0.88 rs922984 . . Benign not_specified RCV000041005.4 MedGen CN169374 . . . . . . 0.197 0.206 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.195 P . . . 0.36 0.579 T -1.4 0.346 N 0.012 0.001 -0.941 0.424 T 0.000 0.000 T . . . 0.654 0.156 8.526 0.992 0.561 0.145 0.182 N c -0.652 -0.507 0.990 0.320 0.487 0.133 0 4.54 0.551 1.572 0.358 1.061 0.807 0.011 0.184 0.091 0.185 5.885 0.180 . . . 0.8208 0.6002 0.5556 0.8914 0.7553 0.8909 0.9291 0.8518 0.7887 0.8154 0.6059 0.6139 0.9007 0.7732 0.8874 0.9301 0.8822 hom 1623.17 53 2 179615887 . T C 1623.17 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.657;DP=53;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8824;MQ=59.13;MQ0=0;MQRankSum=-0.443;QD=30.63;ReadPosRankSum=-0.537;VQSLOD=8.5671;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,51:53:70.96:1656,71,0 2 179615931 179615931 C G exonic TTN nonsynonymous SNV TTN:NM_133379:exon46:c.G11196C:p.L3732F 0.97 0.91 1. 1. 1. 1. 0.9926 0.9195 0.9971 1 1 0.9997 0.9912 0.9998 0.97 0.92 1. 0.95 0.98 rs922985 COSM5021341 1(bone) Benign not_specified RCV000041004.4 MedGen CN169374 . . . . . . 0.103 0.301 T 0.003 0.102 B 0.004 0.093 B . . . 1 0.201 P . . . 0.25 0.595 T -0.12 0.088 N 0.008 0.000 -0.973 0.365 T 0.000 0.000 T . . . 0.163 0.109 4.287 0.961 0.280 0.089 0.146 N c -0.628 -0.536 0.969 0.291 0.487 0.133 0 3.9 0.441 -0.174 0.097 0.935 0.490 0.000 0.063 0.322 0.241 5.488 0.159 . . . 0.9945 0.9206 0.9972 1 1 1 0.9998 0.9965 0.9998 0.9762 0.9169 0.9940 1 1 1 0.9999 0.9969 hom 1575.66 48 2 179615931 . C G 1575.66 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;QD=32.83;VQSLOD=9.3492;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1609,126,0 2 179615994 179615994 T C exonic TTN synonymous SNV TTN:NM_133379:exon46:c.A11133G:p.T3711T 0.97 0.91 1. 1. 1. 1. 0.9926 0.9200 0.9970 1 1 0.9997 0.9912 0.9997 0.97 0.92 1. 0.95 1. rs922986 . . Benign not_specified RCV000041002.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9944 0.9208 0.9971 1 1 1 0.9998 0.9965 0.9997 0.9760 0.9163 0.9940 1 1 1 0.9998 0.9969 hom 2625.29 91 2 179615994 . T C 2625.29 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=28.85;VQSLOD=8.2681;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2658,208,0 2 179620951 179620951 C T exonic TTN nonsynonymous SNV TTN:NM_133437:exon44:c.G10739A:p.G3580D,TTN:NM_001267550:exon46:c.G11252A:p.G3751D 0.8 0.83 0.67 0.78 0.91 0.78 0.8508 0.8372 0.5495 0.7527 0.8849 0.9274 0.8652 0.7953 0.9 0.84 0.93 0.81 . rs7585334 . . Benign not_specified RCV000041121.4 MedGen CN169374 . . . . . . 1.0 0.010 T 0.005 0.119 B 0.01 0.139 B . . . 0.551 0.810 P . . . 1.09 0.392 T -0.84 0.229 N 0.094 0.112 -1.021 0.234 T 0.000 0.000 T . . . 3.252 0.450 22.8 0.907 0.193 0.970 0.720 D c 0.345 0.350 1.000 0.747 0.487 0.133 0 4.2 0.486 3.781 0.549 0.935 0.490 1.000 0.715 0.525 0.275 13.065 0.583 Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.8387 0.8398 0.5677 0.9142 0.7550 0.8901 0.9303 0.8625 0.7873 0.8805 0.8313 0.6319 0.9205 0.7716 0.8864 0.9314 0.8959 hom 5419.42 175 2 179620951 . C T 5419.42 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3001;MQ=59.10;MQ0=0;QD=30.97;VQSLOD=9.3959;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5419,430,0 2 179621477 179621477 C T exonic TTN nonsynonymous SNV TTN:NM_133437:exon44:c.G10213A:p.A3405T,TTN:NM_001267550:exon46:c.G10726A:p.A3576T 1. 1. 1. 1. 1. 1. 0.9997 0.9962 0.9999 1 1 1 1 1 1. 1. 1. 1. . rs6433728 . . Likely benign|Likely benign|Likely benign\x2cother not_specified|Dilated_cardiomyopathy_1G|Limb-girdle_muscular_dystrophy\x2c_type_2J\x2cnot_specified RCV000155422.1|RCV000467517.1|RCV000467517.1\x2cRCV000152471.4 MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet\x2cMedGen CN169374|C1858763:604145|C1837342:608807:ORPHA140922\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9963 0.9999 1 1 1 1.0000 1 1 0.9992 0.9973 1 1 1 1 1 1 hom 1941 64 2 179621477 . C T 1941 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=30.33;VQSLOD=8.4218;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1974,156,0 2 179623758 179623758 C T exonic TTN nonsynonymous SNV TTN:NM_003319:exon43:c.G10118A:p.S3373N,TTN:NM_133432:exon43:c.G10118A:p.S3373N,TTN:NM_133437:exon43:c.G10118A:p.S3373N,TTN:NM_001256850:exon44:c.G10256A:p.S3419N,TTN:NM_001267550:exon44:c.G10256A:p.S3419N,TTN:NM_133378:exon44:c.G10256A:p.S3419N,TTN:NM_133379:exon44:c.G10256A:p.S3419N 0.81 0.84 0.67 0.78 0.91 0.78 0.8512 0.8450 0.5501 0.7636 0.8853 0.9274 0.8656 0.7891 0.9 0.84 0.93 0.83 0.89 rs2291310 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy\x2c_Dominant|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive RCV000039852.10|RCV000251067.1|RCV000275658.1|RCV000301488.1|RCV000333056.1|RCV000354685.1|RCV000367878.1|RCV000400937.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|MedGen CN169374|CN230736|C1838244:600334:ORPHA609|C1863599:603689:ORPHA178464|C2673677:611705:ORPHA289377|HP:0001639:C0007194:ORPHA217569|CN239310|CN239352 . . . . . . 0.634 0.069 T 0.0 0.102 B 0.001 0.080 B . . . 1 0.090 P . . . -0.3 0.679 T 0.45 0.039 N 0.014 0.024 -0.979 0.352 T 0.000 0.000 T . . . 1.814 0.279 15.07 0.778 0.116 0.085 0.142 N c -0.889 -0.929 0.999 0.384 0.554 0.246 0 -3.23 0.048 0.424 0.209 -0.489 0.052 0.049 0.212 0.993 0.574 7.485 0.264 Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.8412 0.8492 0.5692 0.9141 0.7668 0.8910 0.9303 0.8640 0.7893 0.8838 0.8408 0.6316 0.9205 0.7832 0.8872 0.9313 0.8969 hom 4009.37 136 2 179623758 . C T 4009.37 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=59.20;MQ0=0;QD=29.48;VQSLOD=8.8249;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4009,307,0 2 179629363 179629363 T C exonic TTN synonymous SNV TTN:NM_003319:exon41:c.A9741G:p.E3247E,TTN:NM_133432:exon41:c.A9741G:p.E3247E,TTN:NM_133437:exon41:c.A9741G:p.E3247E,TTN:NM_001256850:exon42:c.A9879G:p.E3293E,TTN:NM_001267550:exon42:c.A9879G:p.E3293E,TTN:NM_133378:exon42:c.A9879G:p.E3293E,TTN:NM_133379:exon42:c.A9879G:p.E3293E 0.97 0.9 0.99 1. 1. 1. 0.9921 0.9141 0.9969 1 1 0.9997 0.9923 0.9998 0.97 0.91 1. 0.95 1. rs4894043 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy\x2c_Dominant|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive RCV000040976.9|RCV000248023.1|RCV000259982.1|RCV000265831.1|RCV000300096.1|RCV000305792.1|RCV000354969.1|RCV000360490.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen CN169374|CN230736|CN239310|C2673677:611705:ORPHA289377|HP:0001639:C0007194:ORPHA217569|C1838244:600334:ORPHA609|C1863599:603689:ORPHA178464|CN239352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9941 0.9147 0.9969 1 1 1 0.9998 0.9967 0.9998 0.9744 0.9105 0.9940 1 1 1 0.9999 0.9969 hom 8161.61 247 2 179629363 . T C 8161.61 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.562;DP=247;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8411;MQ=58.70;MQ0=0;MQRankSum=1.605;QD=33.04;ReadPosRankSum=1.478;VQSLOD=3.7074;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,245:247:99:8102,617,0 2 179629461 179629461 C T exonic TTN nonsynonymous SNV TTN:NM_003319:exon41:c.G9643A:p.V3215M,TTN:NM_133432:exon41:c.G9643A:p.V3215M,TTN:NM_133437:exon41:c.G9643A:p.V3215M,TTN:NM_001256850:exon42:c.G9781A:p.V3261M,TTN:NM_001267550:exon42:c.G9781A:p.V3261M,TTN:NM_133378:exon42:c.G9781A:p.V3261M,TTN:NM_133379:exon42:c.G9781A:p.V3261M 0.8 0.83 0.67 0.78 0.91 0.78 0.8500 0.8310 0.5504 0.7641 0.8854 0.9273 0.8656 0.7890 0.9 0.83 0.93 0.83 0.89 rs2291311 COSM5766899;COSM5766898;COSM5766900;COSM5766897;COSM5766896 1(large_intestine) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Hereditary_myopathy_with_early_respiratory_failure|Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy\x2c_Dominant|Distal_myopathy_Markesbery-Griggs_type RCV000040961.10|RCV000251159.1|RCV000272076.1|RCV000296790.1|RCV000320840.1|RCV000327097.1|RCV000381817.1|RCV000384754.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|MedGen:OMIM:Orphanet CN169374|CN230736|CN239352|C2673677:611705:ORPHA289377|C1863599:603689:ORPHA178464|HP:0001639:C0007194:ORPHA217569|CN239310|C1838244:600334:ORPHA609 . . . . . . 0.158 0.298 T 0.988 0.764 D 0.721 0.601 P . . . 1.000 0.218 P . . . -0.25 0.670 T -1.43 0.352 N 0.089 0.395 -1.065 0.106 T 0.000 0.000 T . . . 2.855 0.404 21.6 0.893 0.181 0.735 0.357 D c 0.163 0.153 1.000 0.500 0.554 0.246 0 4.82 0.615 1.488 0.349 0.068 0.175 0.787 0.293 0.993 0.574 11.614 0.502 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.8401 0.8333 0.5691 0.9144 0.7668 0.8909 0.9303 0.8638 0.7892 0.8800 0.8272 0.6331 0.9205 0.7819 0.8875 0.9314 0.8961 hom 5817.04 185 2 179629461 . C T 5817.04 Mask AC=2;AF=1.00;AN=2;DP=185;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.67;MQ0=0;QD=31.44;VQSLOD=9.0406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:5816,463,0 2 179644035 179644035 G A exonic TTN nonsynonymous SNV TTN:NM_003319:exon22:c.C3746T:p.S1249L,TTN:NM_133432:exon22:c.C3746T:p.S1249L,TTN:NM_133437:exon22:c.C3746T:p.S1249L,TTN:NM_001256850:exon23:c.C3884T:p.S1295L,TTN:NM_001267550:exon23:c.C3884T:p.S1295L,TTN:NM_133378:exon23:c.C3884T:p.S1295L,TTN:NM_133379:exon23:c.C3884T:p.S1295L 0.92 0.85 0.95 0.88 0.99 0.96 0.9606 0.8686 0.9322 0.8766 0.9809 0.9890 0.9636 0.9583 0.95 0.87 0.99 0.88 0.93 rs1552280 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Distal_myopathy_Markesbery-Griggs_type|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Dilated_Cardiomyopathy\x2c_Dominant|Hereditary_myopathy_with_early_respiratory_failure RCV000040271.10|RCV000241712.1|RCV000264528.1|RCV000268224.1|RCV000299899.1|RCV000303354.1|RCV000357032.1|RCV000360628.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|MedGen|MedGen:OMIM:Orphanet CN169374|CN230736|C1838244:600334:ORPHA609|C2673677:611705:ORPHA289377|HP:0001639:C0007194:ORPHA217569|CN239352|CN239310|C1863599:603689:ORPHA178464 . . . . . . 0.329 0.132 T 0.0 0.026 B 0.0 0.013 B . . . 0.999 0.221 P . . . -0.27 0.674 T 2.21 0.003 N 0.05 0.092 -0.961 0.391 T 0.000 0.000 T . . . 2.581 0.371 19.99 0.969 0.311 0.732 0.355 D c -0.312 -0.104 0.932 0.270 0.516 0.203 0 5.72 0.893 6.294 0.725 0.168 0.246 1.000 0.715 0.977 0.480 11.842 0.515 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9623 0.8703 0.9394 0.9920 0.8800 0.9778 0.9898 0.9721 0.9573 0.9463 0.8671 0.9533 1 0.8747 0.9794 0.9889 0.9755 hom 1976.82 60 2 179644035 . G A 1976.82 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;QD=32.95;VQSLOD=9.8003;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2010,159,0 2 179644855 179644855 T C exonic TTN nonsynonymous SNV TTN:NM_003319:exon21:c.A3463G:p.K1155E,TTN:NM_133432:exon21:c.A3463G:p.K1155E,TTN:NM_133437:exon21:c.A3463G:p.K1155E,TTN:NM_001256850:exon22:c.A3601G:p.K1201E,TTN:NM_001267550:exon22:c.A3601G:p.K1201E,TTN:NM_133378:exon22:c.A3601G:p.K1201E,TTN:NM_133379:exon22:c.A3601G:p.K1201E 0.5 0.41 0.51 0.22 0.86 0.54 0.6944 0.4633 0.3726 0.1991 0.8174 0.8655 0.7561 0.5786 0.73 0.47 0.87 0.53 0.84 rs10497520 COSM4001423;COSM4001424;COSM4001425;COSM4001422;COSM4001421 1(breast);3(haematopoietic_and_lymphoid_tissue) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Hereditary_myopathy_with_early_respiratory_failure|Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy\x2c_Dominant|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Distal_myopathy_Markesbery-Griggs_type RCV000040243.9|RCV000246507.1|RCV000270311.1|RCV000305380.1|RCV000309003.1|RCV000340634.1|RCV000362447.1|RCV000391742.1 MedGen|MedGen|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:Orphanet CN169374|CN230736|C1863599:603689:ORPHA178464|HP:0001639:C0007194:ORPHA217569|CN239310|C2673677:611705:ORPHA289377|CN239352|C1838244:600334:ORPHA609 . . . . . . 0.43 0.291 T 0.044 0.454 B 0.036 0.444 B . . . 0.796 0.291 P . . . 0.0 0.629 T -2.42 0.654 N 0.266 0.616 -1.063 0.110 T 0.000 0.000 T . . . 2.524 0.365 19.62 0.973 0.327 0.978 0.772 D c 0.034 0.208 0.836 0.248 0.516 0.203 0 4.56 0.555 4.100 0.573 0.964 0.580 1.000 0.715 1.000 0.888 12.647 0.559 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000079150.13 Cells_Transformed_fibroblasts 0.6885 0.4591 0.4009 0.8474 0.2017 0.8198 0.8685 0.7572 0.5793 0.7025 0.4674 0.4832 0.8808 0.2144 0.8291 0.8651 0.7922 hom 3072.19 100 2 179644855 . T C 3072.19 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8975;MQ=59.02;MQ0=0;QD=30.72;VQSLOD=8.9150;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3105,238,0 2 179650408 179650408 G A exonic TTN nonsynonymous SNV TTN:NM_003319:exon14:c.C2294T:p.T765I,TTN:NM_133432:exon14:c.C2294T:p.T765I,TTN:NM_133437:exon14:c.C2294T:p.T765I,TTN:NM_001256850:exon15:c.C2432T:p.T811I,TTN:NM_001267550:exon15:c.C2432T:p.T811I,TTN:NM_133378:exon15:c.C2432T:p.T811I,TTN:NM_133379:exon15:c.C2432T:p.T811I 0.1 0.086 0.15 0.001 0.22 0.069 0.1691 0.1061 0.1090 0.0001 0.1225 0.2383 0.1861 0.0771 0.19 0.1 0.23 0.065 0.15 rs35813871 COSM3757820;COSM3757819;COSM3757821;COSM3757823;COSM3757824;COSM3757822 1(large_intestine) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Distal_myopathy_Markesbery-Griggs_type|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Dilated_Cardiomyopathy\x2c_Dominant|Hypertrophic_cardiomyopathy|Hereditary_myopathy_with_early_respiratory_failure|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy RCV000040075.6|RCV000250179.1|RCV000277774.1|RCV000293180.1|RCV000333096.1|RCV000348146.1|RCV000372528.1|RCV000387563.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN169374|CN230736|C1838244:600334:ORPHA609|CN239352|CN239310|HP:0001639:C0007194:ORPHA217569|C1863599:603689:ORPHA178464|C2673677:611705:ORPHA289377 . . . . . . 0.0 0.912 D 0.995 0.764 D 0.593 0.672 P . . . 0.730 0.372 P . . . -0.08 0.639 T -3.19 0.717 D 0.197 0.656 -1.116 0.026 T 0.000 0.001 T . . . 2.681 0.383 20.7 0.939 0.233 0.948 0.621 D c 0.580 0.634 1.000 0.462 0.516 0.203 0 5.51 0.817 5.937 0.697 1.048 0.713 1.000 0.715 0.998 0.697 19.784 0.964 . . . 0.1695 0.1046 0.1168 0.3282 0.0004 0.1335 0.2369 0.2057 0.0789 0.1597 0.1050 0.1587 0.3675 0.0006 0.1328 0.2096 0.1802 hom 3390.75 105 2 179650408 . G A 3390.75 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58.66;MQ0=0;QD=32.29;VQSLOD=9.0795;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3390,280,0 2 179702268 179702268 A G exonic CCDC141 synonymous SNV CCDC141:NM_173648:exon23:c.T3678C:p.P1226P 0.99 0.96 1. 1. 1. 1. 0.9970 0.9673 0.9990 1 1 0.9999 0.9978 1 0.99 0.97 1. 0.97 1. rs1032283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9976 0.9661 0.9983 1 1 1 0.9999 0.9989 0.9999 0.9904 0.9664 0.9988 1 1 1 1 0.9980 hom 3116.39 88 2 179702268 . A G 3116.39 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=35.41;VQSLOD=8.9753;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:3149,247,0 2 180047908 180047908 T C exonic SESTD1 synonymous SNV SESTD1:NM_178123:exon3:c.A63G:p.K21K 0.86 0.84 0.83 0.91 0.79 0.93 0.8187 0.8341 0.8482 0.9138 0.8058 0.7755 0.8175 0.9179 0.79 0.84 0.77 0.79 0.69 rs6757681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8204 0.8351 0.8415 0.7901 0.9152 0.8039 0.7762 0.8067 0.9222 0.8137 0.8317 0.8357 0.7715 0.9194 0.8039 0.7937 0.8133 hom 1459.86 45 2 180047908 . T C 1459.86 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.12;MQ0=0;QD=32.44;VQSLOD=8.3684;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1493,117,0 2 180308028 180308028 C T exonic ZNF385B synonymous SNV ZNF385B:NM_001113397:exon8:c.G1137A:p.G379G,ZNF385B:NM_001113398:exon8:c.G1059A:p.G353G,ZNF385B:NM_001282725:exon10:c.G1059A:p.G353G,ZNF385B:NM_152520:exon10:c.G1365A:p.G455G 0.17 0.26 0.1 0.15 0.14 0.13 0.1407 0.2344 0.072 0.1241 0.1084 0.1465 0.1309 0.1294 0.17 0.22 0.14 0.21 0.13 rs2367796 COSM3724286;COSM3724285 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1342 0.2260 0.0755 0.1363 0.1277 0.1061 0.1472 0.1369 0.1282 0.1561 0.2206 0.0979 0.1225 0.1451 0.1111 0.1360 0.1283 het 720.66 60 2 180308028 . C T 720.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.935;DP=60;Dels=0.00;FS=9.069;HRun=0;HaplotypeScore=0.8941;MQ=58.60;MQ0=0;MQRankSum=-0.444;QD=12.01;ReadPosRankSum=-1.479;VQSLOD=4.5458;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,29:60:99:751,0,859 2 180810180 180810180 C T exonic CWC22 synonymous SNV CWC22:NM_020943:exon20:c.G2403A:p.A801A 0.61 0.61 0.42 0.53 0.71 0.7 0.6478 0.6158 0.3394 0.5456 0.6891 0.6985 0.6793 0.7136 0.68 0.62 0.7 0.71 . rs6433817 COSM4154711 1(haematopoietic_and_lymphoid_tissue);1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6381 0.6123 0.3564 0.7116 0.5485 0.6925 0.7001 0.6560 0.7177 0.6548 0.6140 0.4332 0.7285 0.5361 0.6932 0.6929 0.6619 hom 6933.87 217 2 180810180 . C T 6933.87 Mask AC=2;AF=1.00;AN=2;DP=217;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=59.41;MQ0=0;QD=31.95;VQSLOD=9.6851;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:6933,542,0 2 180810264 180810264 A T exonic CWC22 nonsynonymous SNV CWC22:NM_020943:exon20:c.T2319A:p.S773R 0.93 0.95 0.9 0.99 0.9 0.9 0.8982 0.9396 0.8866 0.9980 0.9221 0.8778 0.9020 0.9022 0.9 0.94 0.88 0.98 . rs6433818 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.491 N 1.000 0.090 P -2.36 0.001 N 3.65 0.043 T 0.62 0.024 N 0.055 0.037 -1.030 0.206 T 0.000 0.000 T . . . -0.986 0.032 0.017 0.063 0.000 0.039 0.092 N c -1.410 -1.198 0.203 0.181 0.719 0.830 0 -0.613 0.110 0.466 0.216 -0.751 0.034 0.999 0.424 0.180 0.213 3.068 0.058 . . . 0.8983 0.9355 0.8859 0.9029 0.9981 0.9272 0.8743 0.8947 0.9027 0.9073 0.9385 0.8854 0.9106 0.9975 0.9243 0.8773 0.8959 hom 6755.98 223 2 180810264 . A T 6755.98 Mask AC=2;AF=1.00;AN=2;DP=223;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7706;MQ=58.95;MQ0=0;QD=30.30;VQSLOD=8.3975;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,223:223:99:6755,530,0 2 182374534 182374534 A G exonic ITGA4 synonymous SNV ITGA4:NM_000885:exon16:c.A1845G:p.T615T 0.66 0.66 0.63 0.63 0.53 0.85 0.6187 0.6466 0.6063 0.6434 0.4546 0.5752 0.6286 0.8379 0.6 0.65 0.58 0.6 0.42 rs1143674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6105 0.6462 0.6003 0.6027 0.6406 0.4576 0.5762 0.6023 0.8386 0.5870 0.6571 0.6089 0.6258 0.6475 0.4698 0.5660 0.5716 hom 1087.73 38 2 182374534 . A G 1087.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.456;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.39;MQ0=0;MQRankSum=-1.368;QD=28.62;ReadPosRankSum=0.547;VQSLOD=7.1066;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,37:38:58.03:1121,58,0 2 182395345 182395345 G A exonic ITGA4 nonsynonymous SNV ITGA4:NM_000885:exon24:c.G2633A:p.R878Q 0.79 0.75 0.8 0.84 0.67 0.9 0.7367 0.7467 0.8144 0.8483 0.6880 0.6756 0.75 0.8844 0.7 0.75 0.68 0.78 0.7 rs1143676 . . . . . . . . . . . . . 0.378 0.112 T 0.063 0.219 B 0.041 0.226 B 0.486 0.050 N 1 0.090 P 0.41 0.124 N 0.93 0.441 T -0.02 0.073 N 0.077 0.068 -1.025 0.220 T 0.000 0.000 T . . . -0.179 0.078 1.213 0.838 0.144 0.002 0.013 N c -1.893 -2.008 1.000 0.747 0.707 0.730 0 -10.9 0.002 -3.932 0.004 -0.267 0.087 0.000 0.063 0.011 0.114 1.435 0.022 Integrin alpha-2|Integrin domain . . 0.7382 0.7549 0.8066 0.6646 0.8477 0.6840 0.6758 0.7291 0.8843 0.7128 0.7490 0.8010 0.6887 0.8617 0.6907 0.6755 0.7285 hom 7397.09 235 2 182395345 . G A 7397.09 Mask AC=2;AF=1.00;AN=2;DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5156;MQ=59.42;MQ0=0;QD=31.48;VQSLOD=6.7249;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,235:235:99:7396,566,0 2 182399097 182399097 T C exonic ITGA4 synonymous SNV ITGA4:NM_000885:exon26:c.T2883C:p.H961H 0.66 0.65 0.63 0.62 0.55 0.84 0.6263 0.6379 0.6173 0.6462 0.4947 0.5834 0.6355 0.8374 0.6 0.65 0.59 0.6 0.6 rs7562325 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6140 0.6300 0.6038 0.6037 0.6360 0.4857 0.5770 0.6101 0.8351 0.5871 0.6379 0.6100 0.6391 0.6438 0.5014 0.5696 0.5799 hom 325.56 12 2 182399097 . T C 325.56 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.05;MQ0=0;QD=27.13;VQSLOD=7.5344;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:30.08:359,30,0 2 182399638 182399638 A G exonic ITGA4 synonymous SNV ITGA4:NM_000885:exon27:c.A2979G:p.L993L 1. 0.99 1. 1. 1. 1. 0.9994 0.9934 1 0.9994 1 1.0000 1 0.9998 1. 1. 1. 1. 0.97 rs2124443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9934 0.9997 0.9997 0.9993 1 1.0000 1 0.9999 0.9983 0.9938 1 1 1 1 1 1 hom 2840.28 90 2 182399638 . A G 2840.28 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=31.56;VQSLOD=8.6109;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2873,223,0 2 182403851 182403851 G A exonic CERKL synonymous SNV CERKL:NM_001030312:exon9:c.C1167T:p.D389D,CERKL:NM_001030313:exon10:c.C1299T:p.D433D,CERKL:NM_001160277:exon12:c.C1452T:p.D484D,CERKL:NM_201548:exon12:c.C1506T:p.D502D,CERKL:NM_001030311:exon13:c.C1584T:p.D528D 0.99 0.97 1. 1. 1. 1. 0.9975 0.9754 0.9990 1 1 0.9995 1 0.9997 0.99 0.98 1. 0.99 1. rs10180793 . . Benign|Benign not_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000152986.4|RCV000290953.1 MedGen|MedGen CN169374|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9762 0.9984 0.9947 1 1.0000 0.9999 0.9989 0.9997 0.9933 0.9766 0.9976 0.9967 1 1 0.9999 1 hom 2646.57 91 2 182403851 . G A 2646.57 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=29.08;VQSLOD=7.5484;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2680,205,0 2 182521578 182521578 G A exonic CERKL synonymous SNV CERKL:NM_001030311:exon1:c.C156T:p.F52F,CERKL:NM_001030312:exon1:c.C156T:p.F52F,CERKL:NM_001030313:exon1:c.C156T:p.F52F,CERKL:NM_001160277:exon1:c.C156T:p.F52F,CERKL:NM_201548:exon1:c.C156T:p.F52F 0.51 0.17 0.52 0.73 0.44 0.78 0.5257 0.2417 0.6240 0.7190 0.3961 0.4722 0.5321 0.7872 0.4 0.24 0.48 0.45 0.43 rs1473295 . . Benign|Benign not_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000152991.4|RCV000284458.1 MedGen|MedGen CN169374|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5275 0.2263 0.6088 0.5334 0.7111 0.3931 0.4684 0.4985 0.7843 0.4071 0.2211 0.5995 0.5695 0.7183 0.3894 0.4676 0.4732 het 745.48 63 2 182521578 . G A 745.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.180;DP=63;Dels=0.00;FS=5.223;HRun=2;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;MQRankSum=1.354;QD=11.83;ReadPosRankSum=1.602;VQSLOD=5.4555;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,31:63:99:775,0,783 2 182543455 182543455 T C exonic NEUROD1 nonsynonymous SNV NEUROD1:NM_002500:exon2:c.A133G:p.T45A 0.77 0.73 0.74 0.92 0.61 0.85 0.7027 0.7394 0.7724 0.9164 0.6410 0.6258 0.6918 0.8533 0.67 0.74 0.63 0.76 0.61 rs1801262 COSM1179689 1(prostate);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.289 0.148 N 1 0.090 P -0.69 0.019 N -3.57 0.949 D 0.09 0.059 N 0.001 0.016 -0.953 0.405 T 0.000 0.000 T . . . 0.238 0.117 5.076 0.657 0.076 0.000 0.001 N c -0.631 -0.415 0.843 0.249 0.598 0.340 0 4.43 0.528 0.563 0.231 0.069 0.176 0.021 0.196 0.997 0.653 9.282 0.367 . . . 0.7013 0.7377 0.7613 0.6401 0.9169 0.6394 0.6225 0.6731 0.8502 0.6827 0.7388 0.7458 0.6987 0.9227 0.6501 0.6277 0.6855 hom 1819.98 49 2 182543455 . T C 1819.98 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.53;MQ0=0;QD=37.14;VQSLOD=9.6750;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1853,147,0 2 182767178 182767178 C G exonic SSFA2 synonymous SNV SSFA2:NM_001287504:exon7:c.C939G:p.S313S,SSFA2:NM_001130445:exon8:c.C1398G:p.S466S,SSFA2:NM_001287503:exon8:c.C1398G:p.S466S,SSFA2:NM_006751:exon8:c.C1398G:p.S466S 0.0062 . 0.017 . 0.019 . 0.0124 0.0040 0.0126 0 0.0036 0.0180 0.0156 0.0031 0.013 0.0039 0.018 . 0.0082 rs34087767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0121 0.0036 0.0125 0.0167 0 0.0040 0.0185 0.0158 0.0026 0.0098 0.0046 0.0167 0.0166 0 0.0040 0.015 0.0061 het 1167.21 61 2 182767178 . C G 1167.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.421;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.31;MQ0=0;MQRankSum=-0.684;QD=19.13;ReadPosRankSum=0.714;VQSLOD=6.3024;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,41:61:99:1197,0,524 2 183799558 183799558 G C exonic NCKAP1 synonymous SNV NCKAP1:NM_013436:exon26:c.C2781G:p.V927V,NCKAP1:NM_205842:exon27:c.C2799G:p.V933V 0.7 0.28 0.77 0.97 0.79 0.87 0.7903 0.3907 0.8257 0.9572 0.8631 0.7851 0.7869 0.8690 0.63 0.35 0.78 0.58 0.43 rs9288088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7822 0.3303 0.8082 0.7011 0.9545 0.8643 0.7756 0.7843 0.8615 0.6768 0.3439 0.8174 0.6854 0.9549 0.8719 0.7792 0.7898 hom 1069.18 39 2 183799558 . G C 1069.18 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.90;MQ0=0;QD=27.41;VQSLOD=7.3251;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:81.26:1102,81,0 2 185800905 185800905 A T exonic ZNF804A nonsynonymous SNV ZNF804A:NM_194250:exon4:c.A782T:p.Q261L 0.62 0.44 0.69 0.84 0.62 0.59 0.6448 0.4644 0.7673 0.8464 0.6613 0.6294 0.6608 0.6221 0.58 0.48 0.63 0.53 0.63 rs12476147 . . . . . . . . . . . . . 0.366 0.117 T 0.0 0.026 B 0.0 0.013 B 0.203 0.165 N 1 0.090 P -1.845 0.003 N 3.49 0.051 T -0.73 0.206 N 0.038 0.018 -1.065 0.106 T 0.000 0.000 T . . . 0.315 0.124 5.839 0.941 0.236 0.004 0.019 N c -1.243 -1.100 0.000 0.012 0.554 0.246 0 0.194 0.144 -0.151 0.101 -0.263 0.087 0.000 0.063 0.909 0.387 1.011 0.014 . . . 0.6561 0.4630 0.7572 0.7016 0.8427 0.6677 0.6260 0.6541 0.6236 0.5999 0.4572 0.7380 0.7185 0.8292 0.6638 0.6301 0.6436 hom 2990.10 104 2 185800905 . A T 2990.10 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8628;MQ=58.39;MQ0=0;QD=28.75;VQSLOD=7.8321;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3023,235,0 2 185801747 185801747 G A exonic ZNF804A nonsynonymous SNV ZNF804A:NM_194250:exon4:c.G1624A:p.E542K 0.49 0.058 0.63 0.84 0.58 0.52 0.5776 0.1224 0.7324 0.8500 0.6416 0.5851 0.5833 0.5430 0.43 0.14 0.58 0.36 0.52 rs4667001 . . . . . . . . . . . . . 0.107 0.295 T 0.012 0.151 B 0.006 0.112 B 0.029 0.255 N 1 0.090 P 2.425 0.705 M 3.26 0.067 T -1.52 0.370 N 0.061 0.045 -1.050 0.144 T 0.000 0.000 T . . . 2.025 0.304 16.37 0.987 0.439 0.444 0.271 N c -0.452 -0.426 0.000 0.035 0.554 0.246 0 3.22 0.359 1.562 0.357 0.953 0.551 0.929 0.320 0.381 0.251 6.250 0.199 . . . 0.5931 0.1192 0.7182 0.6142 0.8465 0.6447 0.5833 0.5907 0.5425 0.4749 0.1262 0.6932 0.6060 0.8350 0.6372 0.5801 0.5849 hom 1321.43 45 2 185801747 . G A 1321.43 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.06;MQ0=0;QD=29.37;VQSLOD=8.0906;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1354,105,0 2 185801755 185801755 A G exonic ZNF804A synonymous SNV ZNF804A:NM_194250:exon4:c.A1632G:p.T544T 0.79 0.76 0.82 0.88 0.78 0.71 0.7949 0.7774 0.8493 0.8889 0.7704 0.7933 0.8196 0.7336 0.78 0.78 0.78 0.72 0.77 rs4667002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8000 0.7786 0.8487 0.8731 0.8863 0.7697 0.7913 0.8139 0.7370 0.7820 0.7717 0.8599 0.8633 0.8753 0.7646 0.7769 0.7695 hom 1210.91 41 2 185801755 . A G 1210.91 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56.76;MQ0=0;QD=29.53;VQSLOD=8.3811;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1244,99,0 2 185802211 185802211 - ACA exonic ZNF804A nonframeshift insertion ZNF804A:NM_194250:exon4:c.2088_2089insACA:p.T697_I698insT 0.49 0.06 0.63 0.84 0.58 0.52 0.5768 0.1218 0.7319 0.8497 0.6413 0.5845 0.5819 0.5411 0.43 0.14 0.58 . . rs5836928 COSM4603220 18(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5918 0.1187 0.7179 0.6116 0.8473 0.6446 0.5828 0.5892 0.5401 0.4738 0.1257 0.6938 0.6033 0.8325 0.6373 0.5792 0.5807 hom 5675.29 94 2 185802211 . C CACA 5675.29 Mask AC=2;AF=1.00;AN=2;DP=94;FS=0.000;HRun=0;HaplotypeScore=408.7087;MQ=56.54;MQ0=0;QD=60.38;set=variant2 GT:AD:DP:GQ:PL 1/1:7,85:94:99:5675,268,0 2 185802243 185802243 C A exonic ZNF804A nonsynonymous SNV ZNF804A:NM_194250:exon4:c.C2120A:p.T707K 0.49 0.059 0.63 0.84 0.58 0.52 0.5777 0.1227 0.7332 0.8503 0.6423 0.5854 0.5809 0.5419 0.43 0.14 0.58 0.37 0.5 rs1366842 COSM4133322 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.002 0.063 B 0.654 0.105 N 1 0.090 P 1.3 0.327 L 3.45 0.053 T -0.21 0.103 N 0.035 0.015 -0.942 0.424 T 0.000 0.000 T . . . 1.398 0.231 12.78 0.153 0.004 0.107 0.159 N c -1.269 -1.238 0.000 0.012 0.487 0.133 0 1.86 0.244 0.183 0.166 -1.049 0.020 0.000 0.063 0.000 0.016 5.764 0.174 . . . 0.5921 0.1189 0.7180 0.6123 0.8467 0.6446 0.5833 0.5888 0.5401 0.4767 0.1262 0.6942 0.6060 0.8371 0.6380 0.5829 0.5861 hom 2691.93 83 2 185802243 . C A 2691.93 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-2.301;DP=83;Dels=0.00;FS=2.855;HRun=2;HaplotypeScore=0.5784;MQ=57.54;MQ0=0;MQRankSum=2.064;QD=32.43;ReadPosRankSum=2.212;VQSLOD=3.4299;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,81:83:99:2725,165,0 2 185802363 185802363 A G exonic ZNF804A nonsynonymous SNV ZNF804A:NM_194250:exon4:c.A2240G:p.H747R 0.7 0.62 0.75 0.87 0.69 0.64 0.7139 0.6302 0.7999 0.8709 0.6993 0.7048 0.7323 0.6658 0.68 0.64 0.71 0.72 0.66 rs12477430 . . . . . . . . . . . . . 0.402 0.104 T 0.0 0.026 B 0.0 0.013 B 0.994 0.079 N 1 0.090 P 0.41 0.124 N 3.47 0.052 T -0.08 0.082 N 0.004 0.000 -1.048 0.149 T 0.000 0.000 T . . . -2.261 0.005 0.001 0.759 0.109 0.001 0.007 N c -1.263 -1.187 0.000 0.012 0.554 0.246 0 2.05 0.257 0.066 0.142 0.077 0.185 0.000 0.063 0.016 0.126 9.824 0.399 . . . 0.7218 0.6284 0.7979 0.7902 0.8659 0.7042 0.7021 0.7215 0.6663 0.6886 0.6222 0.8002 0.7848 0.8613 0.7035 0.6958 0.7077 hom 3515.35 117 2 185802363 . A G 3515.35 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.95;MQ0=0;QD=30.05;VQSLOD=8.3449;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3515,286,0 2 186670104 186670104 A C exonic FSIP2 nonsynonymous SNV FSIP2:NM_173651:exon17:c.A16071C:p.E5357D 0.96 0.93 0.92 0.94 0.99 1. 0.9763 0.9394 0.9181 0.9387 0.9477 0.9951 0.9765 0.9942 0.98 0.94 1. 0.98 0.98 rs7576532 . . . . . . . . . . . . . 1.0 0.010 T . . . . . . . . . 1 0.090 P -2.295 0.001 N 1.44 0.327 T 3.4 0.001 N 0.027 0.009 -0.983 0.344 T 0.000 0.000 T . . . -0.800 0.040 0.043 0.094 0.001 0.354 0.251 N c -1.035 -0.882 0.000 0.012 0.487 0.133 0 2.78 0.316 0.049 0.139 -0.759 0.034 0.990 0.367 0.978 0.483 4.394 0.107 Fibrous sheath-interacting protein 2\x2c C-terminal . . 0.9725 0.9374 0.9235 0.9819 0.9389 0.9427 0.9971 0.9771 0.9941 0.9647 0.9371 0.9329 0.9702 0.9247 0.9444 0.9909 0.9714 hom 1074.82 36 2 186670104 . A C 1074.82 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;QD=29.86;VQSLOD=8.7706;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:84.27:1108,84,0 2 186670979 186670979 T C exonic FSIP2 nonsynonymous SNV FSIP2:NM_173651:exon17:c.T16946C:p.I5649T 0.87 0.8 0.85 0.88 0.88 0.94 0.8752 0.8021 0.8684 0.8719 0.8666 0.8774 0.8993 0.9183 0.86 0.81 0.89 0.86 0.89 rs4666689 . . . . . . . . . . . . . 1.0 0.010 T . . . . . . . . . 1 0.090 P 0.345 0.112 N 1.01 0.411 T 1.88 0.005 N 0.006 0.000 -0.991 0.323 T 0.000 0.000 T . . . -1.493 0.017 0.003 0.324 0.019 0.001 0.009 N c -1.469 -1.548 0.000 0.029 0.554 0.246 0 -3.53 0.043 -1.744 0.019 -0.424 0.059 0.000 0.063 0.000 0.016 0.812 0.010 . . . 0.8754 0.8017 0.8677 0.8825 0.8713 0.8566 0.8792 0.8842 0.9189 0.8554 0.8022 0.8789 0.9067 0.8727 0.8622 0.8800 0.8671 hom 1024.44 34 2 186670979 . T C 1024.44 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.000;DP=34;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=0.0000;MQ=57.23;MQ0=0;MQRankSum=1.427;QD=30.13;ReadPosRankSum=1.631;VQSLOD=4.0474;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,33:34:56.84:1057,57,0 2 186672897 186672897 A G exonic FSIP2 synonymous SNV FSIP2:NM_173651:exon17:c.A18864G:p.L6288L 0.33 0.25 0.36 0.41 0.37 0.29 0.3275 0.2493 0.3594 0.3909 0.2430 0.3448 0.3314 0.2821 0.32 0.24 0.35 0.29 0.35 rs4666690 COSM5425816;COSM5425815 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3270 0.2442 0.3628 0.4188 0.3850 0.2446 0.3402 0.3450 0.2775 0.2997 0.2339 0.3897 0.4404 0.3734 0.2381 0.3365 0.3086 hom 1501.93 49 2 186672897 . A G 1501.93 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.79;MQ0=0;QD=30.65;VQSLOD=8.6412;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1535,117,0 2 186697876 186697876 A G exonic FSIP2 nonsynonymous SNV FSIP2:NM_173651:exon23:c.A20647G:p.T6883A 0.96 0.93 0.92 0.94 0.99 1. 0.9766 0.9411 0.9188 0.9387 0.9479 0.9951 0.9777 0.9944 0.98 0.94 1. 0.97 1. rs1468999 . . . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.740 0.064 N 1.000 0.090 P -1.525 0.005 N 0.99 0.418 T 1.48 0.008 N 0.021 0.005 -0.973 0.367 T 0.000 0.000 T . . . -0.507 0.055 0.211 0.305 0.017 0.016 0.052 N c -0.702 -0.615 0.000 0.029 0.554 0.246 0 3.3 0.368 1.117 0.306 -0.344 0.071 0.993 0.376 0.814 0.341 6.125 0.193 . . . 0.9727 0.9392 0.9226 0.9824 0.9389 0.9424 0.9970 0.9783 0.9943 0.9652 0.9388 0.9318 0.9702 0.9269 0.9439 0.9910 0.9714 hom 1466.27 49 2 186697876 . A G 1466.27 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=29.92;VQSLOD=8.5826;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1499,114,0 2 187532417 187532417 G A exonic ITGAV nonsynonymous SNV ITGAV:NM_001145000:exon22:c.G2239A:p.V747I,ITGAV:NM_001144999:exon24:c.G2209A:p.V737I,ITGAV:NM_002210:exon24:c.G2347A:p.V783I 0.99 0.97 1. 1. 1. 1. 0.9978 0.9754 0.9995 1 1 1.0000 0.9967 0.9999 0.99 0.97 1. 1. 1. rs2230616 . . . . . . . . . . . . . 0.694 0.046 T 0.002 0.131 B 0.01 0.170 B 0.002 0.382 N 0.969 0.258 P 0.39 0.122 N 0.62 0.533 T -0.13 0.090 N 0.059 0.171 -0.948 0.413 T 0.000 0.000 T . . . 2.394 0.349 18.78 0.890 0.179 0.410 0.263 N c -0.603 -0.388 0.000 0.070 0.732 0.924 0 3.39 0.378 2.811 0.474 0.244 0.267 1.000 0.715 1.000 0.888 8.678 0.332 Integrin alpha-2|Integrin domain . . 0.9983 0.9748 0.9996 1 1 1 1.0000 0.9989 0.9998 0.9923 0.9732 1 1 1 1 0.9998 1 hom 3384.15 117 2 187532417 . G A 3384.15 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2031;MQ=59.68;MQ0=0;QD=28.92;VQSLOD=7.9405;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3384,265,0 2 187626338 187626338 C T exonic FAM171B synonymous SNV FAM171B:NM_177454:exon8:c.C1269T:p.D423D 0.17 0.011 0.23 0.046 0.32 0.29 0.2624 0.0514 0.2563 0.0388 0.2690 0.3127 0.2494 0.3085 0.22 0.057 0.3 0.14 0.15 rs13026081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2640 0.0484 0.2596 0.3234 0.0379 0.2668 0.3121 0.2807 0.3058 0.2244 0.0542 0.2800 0.3245 0.0343 0.2573 0.3280 0.2740 het 1645.76 121 2 187626338 . C T 1645.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.249;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8332;MQ=59.62;MQ0=0;MQRankSum=2.591;QD=13.60;ReadPosRankSum=-0.751;VQSLOD=5.4506;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,65:121:99:1676,0,1619 2 187627337 187627337 G A exonic FAM171B synonymous SNV FAM171B:NM_177454:exon8:c.G2268A:p.E756E 0.01 . 0.019 . 0.034 0.0041 0.0216 0.0049 0.0135 0 0.0221 0.0319 0.0221 0.0073 0.022 0.0057 0.031 0.011 0.033 rs17855087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0216 0.0049 0.0139 0.0275 5.801e-05 0.0209 0.0328 0.0236 0.0079 0.0215 0.0079 0.0179 0.0298 0 0.0209 0.0309 0.0356 het 717.43 69 2 187627337 . G A 717.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.085;DP=69;Dels=0.00;FS=0.995;HRun=1;HaplotypeScore=1.8606;MQ=59.12;MQ0=0;MQRankSum=-0.164;QD=10.40;ReadPosRankSum=-0.517;VQSLOD=6.3639;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,29:69:99:747,0,1037 2 187698751 187698751 G A exonic ZSWIM2 synonymous SNV ZSWIM2:NM_182521:exon6:c.C750T:p.T250T 0.2 0.098 0.25 0.11 0.27 0.3 0.2603 0.1226 0.2373 0.1167 0.2464 0.2943 0.2713 0.3053 0.24 0.12 0.29 0.17 0.32 rs7559533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2593 0.1178 0.2414 0.2853 0.1143 0.2529 0.2917 0.2757 0.3074 0.2149 0.1180 0.2339 0.2914 0.1242 0.2632 0.2639 0.2648 het 930.09 64 2 187698751 . G A 930.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.011;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-0.209;QD=14.53;ReadPosRankSum=-0.787;VQSLOD=6.7984;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,34:64:99:960,0,832 2 187702100 187702100 G T exonic ZSWIM2 nonsynonymous SNV ZSWIM2:NM_182521:exon5:c.C676A:p.L226M 0.0076 . 0.01 . 0.007 0.025 0.0063 0.0007 0.0046 0.0003 0.0023 0.0064 0.0088 0.0152 0.0052 0.0009 0.0074 0.011 . rs112852209 . . . . . . . . . . . . . 0.01 0.564 D 0.998 0.715 D 0.956 0.680 D 0.026 0.259 N 1.000 0.090 N 2.685 0.788 M -2.35 0.881 D -0.7 0.199 N 0.25 0.305 -0.039 0.815 T 0.672 0.887 D . . . 2.956 0.416 22.1 0.996 0.719 0.763 0.371 D c 0.291 0.186 0.000 0.029 0.487 0.133 0 2.77 0.315 2.477 0.446 0.998 0.613 0.933 0.321 0.983 0.502 8.823 0.340 . . . 0.0062 0.0007 0.0051 0.0081 0.0001 0.0016 0.0065 0.0082 0.0147 0.0037 0.0017 0.0036 0.0099 0.0006 0.0012 0.0055 0.0061 het 815.97 83 2 187702100 . G T 815.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.978;DP=83;Dels=0.00;FS=0.843;HRun=1;HaplotypeScore=3.3826;MQ=57.51;MQ0=0;MQRankSum=-0.966;QD=9.83;ReadPosRankSum=0.384;VQSLOD=3.6109;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,35:83:99:846,0,1325 2 188211112 188211112 C T exonic CALCRL synonymous SNV CALCRL:NM_001271751:exon14:c.G1185A:p.L395L,CALCRL:NM_005795:exon15:c.G1185A:p.L395L 0.087 0.02 0.063 0.072 0.1 0.2 0.1028 0.0369 0.0416 0.0696 0.0699 0.1143 0.0819 0.1701 0.08 0.037 0.1 0.054 0.074 rs3771095 COSM3757847 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0886 0.0311 0.0405 0.0417 0.0615 0.0671 0.1050 0.0836 0.1573 0.0753 0.0383 0.0408 0.0430 0.0656 0.0720 0.0997 0.0986 het 233.94 26 2 188211112 . C T 233.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.821;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.659;QD=9.00;ReadPosRankSum=-0.553;VQSLOD=6.2000;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,10:26:99:264,0,447 2 188250301 188250301 T A exonic CALCRL nonsynonymous SNV CALCRL:NM_001271751:exon3:c.A22T:p.N8Y,CALCRL:NM_005795:exon4:c.A22T:p.N8Y 1. 1. 1. 1. 1. 1. 0.9996 0.9961 1 1 1 0.9999 1 1 1. 1. 1. 1. 0.74 rs698577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9960 0.9998 0.9989 1 1 0.9999 1 1 0.9990 0.9969 1 0.9934 1 1 0.9999 1 hom 1824.18 68 2 188250301 . T A 1824.18 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9937;MQ=57.28;MQ0=0;QD=26.83;VQSLOD=4.3339;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:1857,144,0 2 188348943 188348943 G A exonic TFPI nonsynonymous SNV TFPI:NM_001032281:exon6:c.C536T:p.P179L,TFPI:NM_006287:exon6:c.C536T:p.P179L,TFPI:NM_001318941:exon7:c.C536T:p.P179L,TFPI:NM_001329240:exon7:c.C536T:p.P179L,TFPI:NM_001329241:exon7:c.C536T:p.P179L,TFPI:NM_001329239:exon8:c.C536T:p.P179L 0.001 . 0.0043 . 0.002 . 0.0018 0.0003 0.0028 0.0001 0.0015 0.0024 0.0022 0.0001 0.0015 0.0005 0.0021 . . rs140515889 . . . . . . . . . . . . . 0.449 0.123 T 0.0 0.026 B 0.0 0.013 B 0.001 0.006 N 1 0.090 N -1.7 0.004 N 0.39 0.663 T 0.73 0.050 N 0.03 0.210 -0.970 0.372 T 0.058 0.243 T . . . -1.238 0.024 0.006 0.738 0.101 0.001 0.005 N c -1.983 -1.998 1.000 0.747 0.672 0.522 0 -9.99 0.004 -0.617 0.056 -1.471 0.011 0.000 0.063 0.000 0.016 3.848 0.084 . . . 0.0018 0.0003 0.0027 0.0003 0.0001 0.0011 0.0026 0.0039 6.572e-05 0.0020 0.0005 0.0012 0 0.0006 0.0011 0.0032 0.0031 het 253.83 31 2 188348943 . G A 253.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.259;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.64;MQ0=0;MQRankSum=1.424;QD=8.19;ReadPosRankSum=-0.186;VQSLOD=4.2681;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,11:31:99:284,0,526 2 189861933 189861933 C A exonic COL3A1 nonsynonymous SNV COL3A1:NM_000090:exon25:c.C1804A:p.P602T 0.0046 0.003 0.0086 . 0.012 0.001 0.0044 0.0028 0.0035 0 0.0023 0.0063 0.0044 0.0013 0.0051 0.003 0.0062 . 0.0082 rs35795890 . . Benign|other|Benign not_specified|Ehlers-Danlos_syndrome\x2c_type_4|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000124401.3|RCV000203161.4|RCV000250986.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:Orphanet CN169374|C0268338:130050:ORPHA286:17025000|CN118826:ORPHA91387 . . . . . . 0.257 0.167 T 0.5 0.353 P 0.491 0.455 P 0.000 0.486 D 1.000 0.548 D 2.17 0.609 M -3.21 0.933 D -2.94 0.614 D 0.46 0.515 0.468 0.901 D 0.750 0.915 D . . . 3.652 0.496 23.2 0.984 0.408 0.984 0.821 D c 0.364 0.465 1.000 0.425 0.554 0.246 0 6.03 0.978 2.990 0.488 0.935 0.490 0.989 0.365 0.879 0.368 20.155 0.981 . . . 0.0045 0.0029 0.0043 0.0052 0 0.0022 0.0066 0.0097 0.0011 0.0048 0.0040 0.0036 0.0033 0 0.0032 0.0062 0.0051 het 1669 147 2 189861933 . C A 1669 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.440;DP=147;Dels=0.00;FS=7.331;HRun=1;HaplotypeScore=0.9993;MQ=59.27;MQ0=0;MQRankSum=0.817;QD=11.35;ReadPosRankSum=1.255;VQSLOD=4.2132;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,70:147:99:1699,0,2042 2 189864080 189864080 G A exonic COL3A1 nonsynonymous SNV COL3A1:NM_000090:exon30:c.G2092A:p.A698T 0.22 0.11 0.25 0.23 0.26 0.29 0.3204 0.1595 0.3432 0.3038 0.3425 0.3338 0.3364 0.3469 0.21 0.13 0.25 0.16 0.049 rs1800255 COSM3757851;COSM3757850 1(thyroid);4(large_intestine) Benign|Benign|Benign|Benign COLLAGEN_TYPE_III_POLYMORPHISM|not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome\x2c_type_4 RCV000018745.2|RCV000177438.3|RCV000251322.1|RCV000395000.1 MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN118826:ORPHA91387|C0268338:130050:ORPHA286:17025000 . . . . . . 0.231 0.182 T 0.0 0.026 B 0.0 0.013 B 0.017 0.277 N 0.708 0.300 P 0.975 0.246 L -3.23 0.934 D -0.44 0.146 N 0.158 0.189 -1.057 0.124 T 0.000 0.001 T . . . 3.334 0.459 22.9 0.978 0.357 0.274 0.230 N c -0.676 -0.572 0.901 0.260 0.554 0.246 0 0.873 0.182 0.112 0.152 0.143 0.228 0.000 0.063 0.906 0.385 1.737 0.027 . . . 0.2497 0.1148 0.2355 0.3024 0.2253 0.2538 0.2530 0.2641 0.3056 0.2118 0.1219 0.2368 0.3411 0.2178 0.2579 0.2463 0.2485 hom 453.55 14 2 189864080 . G A 453.55 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6195;MQ=60.00;MQ0=0;QD=32.40;VQSLOD=8.2509;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:42.12:487,42,0 2 189875421 189875421 T G exonic COL3A1 nonsynonymous SNV COL3A1:NM_000090:exon50:c.T4059G:p.H1353Q 1. 0.99 1. 1. 1. 1. 0.9985 0.9855 0.9993 1 1 0.9997 0.9978 1 0.99 0.98 1. 1. 1. rs1516446 . . Benign|Benign\x2cBenign not_specified|Ehlers-Danlos_syndrome\x2c_type_4\x2cnot_specified RCV000124416.2|RCV000472808.1\x2cRCV000218509.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen CN169374|C0268338:130050:ORPHA286:17025000\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.486 N 1.000 0.250 P -3.715 0.000 N 0.36 0.579 T 4.73 0.000 N 0.411 0.470 -0.950 0.410 T 0.000 0.000 T . . . 0.421 0.135 6.799 0.390 0.026 0.165 0.192 N c -1.416 -1.076 1.000 0.436 0.554 0.246 0 1.42 0.214 1.719 0.374 -0.320 0.077 0.979 0.349 0.979 0.486 6.129 0.193 Fibrillar collagen\x2c C-terminal . . 0.9988 0.9857 0.9993 0.9963 1 1 0.9999 0.9987 1 0.9958 0.9852 1 0.9967 1 1 0.9999 1 hom 3684.05 117 2 189875421 . T G 3684.05 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9134;MQ=59.21;MQ0=0;QD=31.49;VQSLOD=9.6600;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3684,283,0 2 189907937 189907937 A G exonic COL5A2 synonymous SNV COL5A2:NM_000393:exon48:c.T3411C:p.G1137G 0.94 0.94 0.87 0.91 0.98 0.98 0.9540 0.9484 0.8223 0.9090 0.9545 0.9793 0.9536 0.9705 0.97 0.95 0.98 0.95 0.97 rs6434312 COSM4001449 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Ehlers-Danlos_syndrome\x2c_classic_type RCV000124510.3|RCV000206780.2 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0268335:130000:ORPHA287:20766005:83470009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9500 0.9493 0.8415 0.9726 0.9115 0.9500 0.9805 0.9556 0.9713 0.9638 0.9512 0.8723 0.9834 0.9172 0.9616 0.9811 0.9703 hom 1380.97 52 2 189907937 . A G 1380.97 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=26.56;VQSLOD=7.6201;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1414,108,0 2 189932831 189932831 T C exonic COL5A2 synonymous SNV COL5A2:NM_000393:exon21:c.A1311G:p.P437P 0.94 0.91 0.87 0.97 0.98 0.98 0.9591 0.9190 0.8204 0.9658 0.9983 0.9813 0.9681 0.9715 0.96 0.92 0.98 0.91 0.98 rs2229495 . . Benign|Benign not_specified|Ehlers-Danlos_syndrome\x2c_classic_type RCV000124497.3|RCV000473852.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0268335:130000:ORPHA287:20766005:83470009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9568 0.9194 0.8389 0.9726 0.9688 0.9982 0.9816 0.9582 0.9722 0.9644 0.9229 0.8696 0.9834 0.9747 0.9983 0.9836 0.9785 hom 4386.66 129 2 189932831 . T C 4386.66 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.7460;MQ=59.28;MQ0=0;QD=34.01;VQSLOD=7.8297;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4386,358,0 2 189940142 189940142 T G exonic COL5A2 nonsynonymous SNV COL5A2:NM_000393:exon17:c.A1081C:p.M361L 0.01 0.0008 0.023 . 0.024 0.0092 0.0183 0.0038 0.0111 0 0.0079 0.0274 0.0177 0.0096 0.021 0.0057 0.028 0.022 0.033 rs76148000 . . Benign|Benign|Likely benign not_specified|Ehlers-Danlos_syndrome\x2c_classic_type|Ehlers-Danlos_syndrome\x2c_type_7A RCV000124494.5|RCV000205728.2|RCV000345304.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT|MedGen CN169374|C0268335:130000:ORPHA287:20766005:83470009|CN071434 . . . . . . 0.797 0.031 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 D 0.525 0.319 D -0.5 0.026 N -3.34 0.940 D -0.59 0.176 N 0.095 0.095 -0.419 0.715 T 0.225 0.590 T . . . 4.046 0.544 23.7 0.938 0.232 0.931 0.570 D c -0.350 -0.090 1.000 0.747 0.745 0.986 0 5.17 0.707 4.451 0.595 1.011 0.635 1.000 0.715 0.997 0.653 10.621 0.445 . . . 0.0183 0.0037 0.0115 0.0214 0 0.0078 0.0289 0.0250 0.0103 0.0174 0.0071 0.0143 0.0298 0 0.0074 0.0272 0.0224 het 1363.94 108 2 189940142 . T G 1363.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.258;DP=108;Dels=0.00;FS=7.445;HRun=0;HaplotypeScore=2.7627;MQ=58.39;MQ0=0;MQRankSum=0.396;QD=12.63;ReadPosRankSum=2.651;VQSLOD=3.3219;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,54:108:99:1394,0,1169 2 189974958 189974958 G T exonic COL5A2 synonymous SNV COL5A2:NM_000393:exon2:c.C315A:p.T105T 0.89 0.85 0.82 0.9 0.98 0.89 0.9322 0.8546 0.7824 0.9121 0.9873 0.9780 0.9493 0.8887 0.94 0.86 0.98 0.84 0.76 rs4128539 . . Benign|Benign not_specified|Ehlers-Danlos_syndrome\x2c_classic_type RCV000124523.3|RCV000204654.2 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0268335:130000:ORPHA287:20766005:83470009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9307 0.8551 0.7988 0.9694 0.9182 0.9883 0.9794 0.9394 0.8874 0.9415 0.8626 0.8365 0.9834 0.9253 0.9891 0.9815 0.9644 hom 3866 129 2 189974958 . G T 3866 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=29.97;VQSLOD=8.7848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3866,295,0 2 190323530 190323530 A G exonic WDR75 synonymous SNV WDR75:NM_032168:exon7:c.A621G:p.T207T,WDR75:NM_001303096:exon8:c.A429G:p.T143T 0.53 0.27 0.54 0.67 0.66 0.58 0.6195 0.3048 0.5837 0.7022 0.6454 0.6679 0.6454 0.5923 0.56 0.32 0.68 0.5 0.74 rs1157910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6247 0.2951 0.5848 0.6650 0.7005 0.6490 0.6707 0.6354 0.5885 0.5689 0.3240 0.6034 0.6233 0.7031 0.6440 0.6726 0.6299 het 2557.75 194 2 190323530 . A G 2557.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.698;DP=194;Dels=0.00;FS=13.642;HRun=0;HaplotypeScore=5.7318;MQ=59.68;MQ0=0;MQRankSum=-0.797;QD=13.18;ReadPosRankSum=0.508;VQSLOD=3.7181;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,101:194:99:2588,0,2365 2 190430177 190430177 A G exonic SLC40A1 synonymous SNV SLC40A1:NM_014585:exon6:c.T663C:p.V221V 0.55 0.16 0.68 0.81 0.61 0.67 0.6142 0.2200 0.7601 0.7885 0.5728 0.6257 0.5936 0.6405 0.5 0.23 0.64 0.49 0.64 rs2304704 . . Benign|Benign not_specified|Hereditary_hemochromatosis RCV000247963.1|RCV000281104.1 MedGen|MedGen:SNOMED_CT CN169374|CN229568:35400008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6285 0.2126 0.7486 0.7173 0.7929 0.5704 0.6244 0.6453 0.6380 0.5082 0.2270 0.7386 0.7450 0.7902 0.5555 0.6075 0.5867 het 1712.52 133 2 190430177 . A G 1712.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.415;DP=133;Dels=0.00;FS=4.238;HRun=1;HaplotypeScore=0.9996;MQ=59.83;MQ0=0;MQRankSum=1.137;QD=12.88;ReadPosRankSum=1.745;VQSLOD=5.8172;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,64:133:99:1743,0,1981 2 190531426 190531426 G A exonic ASNSD1 nonsynonymous SNV ASNSD1:NM_019048:exon4:c.G568A:p.G190R 0.98 0.94 1. 1. 1. 1. 0.9951 0.9464 0.9976 0.9983 1 0.9998 0.9978 0.9999 0.98 0.95 1. 0.97 1. rs1437880 . . . . . . . . . . . . . 0.813 0.030 T 0.0 0.026 B 0.0 0.013 B 0.185 0.170 N 1 0.090 P -1.525 0.005 N 1.54 0.301 T 0.22 0.047 N 0.521 0.563 -1.013 0.261 T 0.000 0.000 T . . . -0.725 0.044 0.063 0.120 0.002 0.026 0.072 N c -1.132 -1.064 0.987 0.311 0.707 0.730 0 1.09 0.194 1.933 0.395 0.244 0.267 0.657 0.280 0.005 0.090 6.506 0.213 . . . 0.9962 0.9478 0.9976 1 0.9974 1 0.9999 0.9985 0.9998 0.9853 0.9494 0.9952 1 0.9981 1 0.9997 0.9990 hom 2392.97 68 2 190531426 . G A 2392.97 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7820;MQ=60.00;MQ0=0;QD=35.19;VQSLOD=9.2580;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2426,193,0 2 190595258 190595258 G T exonic ANKAR nonsynonymous SNV ANKAR:NM_144708:exon16:c.G3231T:p.L1077F 0.98 0.94 0.99 1. 1. 1. 0.9939 0.9371 0.9955 0.9998 1 0.9996 0.9967 0.9999 0.98 0.94 1. 0.98 1. rs1225090 . . . . . . . . . . . . . 0.71 0.040 T 0.0 0.026 B 0.001 0.040 B 0.578 0.112 N 1 0.090 P -0.84 0.015 N 2.25 0.178 T -0.5 0.158 N 0.015 0.007 -1.024 0.224 T 0.000 0.000 T . . . -1.611 0.014 0.002 0.061 0.000 0.002 0.010 N c -1.725 -1.706 0.000 0.048 0.554 0.246 0 -1.14 0.092 -1.335 0.027 -1.065 0.020 0.000 0.063 0.004 0.083 1.827 0.029 Armadillo-like helical|Armadillo-type fold . . 0.9950 0.9346 0.9954 1 0.9999 1 0.9995 0.9958 0.9999 0.9819 0.9371 0.9964 1 1 1 0.9998 0.9949 hom 2325.54 77 2 190595258 . G T 2325.54 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9957;MQ=58.97;MQ0=0;QD=30.20;VQSLOD=8.8427;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2359,181,0 2 190602513 190602513 T C exonic ANKAR synonymous SNV ANKAR:NM_144708:exon18:c.T3528C:p.F1176F 0.98 0.94 0.99 1. 1. 1. 0.9938 0.9372 0.9955 0.9983 1 0.9995 0.9967 0.9999 0.98 0.94 1. 0.98 0.92 rs1225099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9947 0.9323 0.9950 1 0.9972 1 0.9994 0.9959 0.9998 0.9817 0.9369 0.9964 1 0.9981 1 0.9997 0.9949 hom 2112.43 73 2 190602513 . T C 2112.43 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.37;MQ0=0;QD=28.94;VQSLOD=8.3285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2145,172,0 2 190617643 190617643 A G exonic OSGEPL1 synonymous SNV OSGEPL1:NM_022353:exon6:c.T1026C:p.N342N 0.97 0.89 0.99 1. 1. 1. 0.9908 0.8979 0.9949 1 0.9998 0.9995 0.9966 0.9992 0.97 0.9 1. 0.97 . rs2243876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9922 0.8963 0.9937 0.9999 1 0.9999 0.9993 0.9949 0.9992 0.9702 0.8964 0.9952 1 1 1 0.9995 0.9919 hom 2586.68 83 2 190617643 . A G 2586.68 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=31.16;VQSLOD=9.2647;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2620,208,0 2 191064753 191064753 C T exonic C2orf88 nonsynonymous SNV C2orf88:NM_001042519:exon2:c.C167T:p.T56I,C2orf88:NM_001042520:exon2:c.C167T:p.T56I,C2orf88:NM_032321:exon2:c.C167T:p.T56I,C2orf88:NM_001042521:exon3:c.C167T:p.T56I 0.35 0.5 0.28 0.44 0.24 0.24 0.2706 0.4776 0.2192 0.4728 0.1421 0.2449 0.2733 0.2336 0.3 0.45 0.24 0.35 0.24 rs6753459 COSM5904709 1(skin) . . . . . . . . . . . 0.413 0.100 T 0.0 0.026 B 0.001 0.040 B 0.971 0.078 N 1 0.090 P . . . 0.86 0.468 T -1.46 0.358 N 0.031 0.404 -0.910 0.469 T 0.000 0.000 T . . . -0.902 0.036 0.026 0.331 0.020 0.019 0.058 N c -1.645 -1.702 1.000 0.489 0.707 0.730 0 -3.0 0.051 -1.443 0.025 -2.169 0.004 0.000 0.063 0.000 0.016 8.761 0.337 . ENSG00000198130.10|ENSG00000151690.10|ENSG00000151690.10|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000187699.6|ENSG00000151689.8|ENSG00000198130.10|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000198130.10|ENSG00000198130.10|ENSG00000198130.10|ENSG00000198130.10|ENSG00000151690.10|ENSG00000151689.8|ENSG00000151689.8|ENSG00000198130.10|ENSG00000187699.6|ENSG00000198130.10 Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Stomach|Thyroid|Thyroid 0.2627 0.4810 0.2171 0.2223 0.4769 0.1391 0.2493 0.2570 0.2356 0.2998 0.4647 0.2344 0.2185 0.4845 0.1431 0.2310 0.2230 hom 8151.47 250 2 191064753 . C T 8151.47 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8255;MQ=58.34;MQ0=0;QD=32.61;VQSLOD=9.2188;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8150,668,0 2 191224981 191224981 G T exonic INPP1 synonymous SNV INPP1:NM_002194:exon2:c.G153T:p.T51T,INPP1:NM_001128928:exon3:c.G153T:p.T51T 0.45 0.72 0.33 0.49 0.3 0.28 0.3430 0.6780 0.2745 0.4938 0.2715 0.3073 0.3480 0.2731 0.42 0.66 0.3 0.51 0.29 rs4656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3315 0.6753 0.2740 0.2751 0.5028 0.2625 0.3108 0.3354 0.2699 0.4098 0.6589 0.2983 0.2682 0.5235 0.2610 0.3039 0.2980 hom 1963.26 67 2 191224981 . G T 1963.26 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5929;MQ=58.33;MQ0=0;QD=29.30;VQSLOD=8.0335;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1996,159,0 2 191231458 191231458 G A exonic INPP1 synonymous SNV INPP1:NM_002194:exon4:c.G303A:p.E101E,INPP1:NM_001128928:exon5:c.G303A:p.E101E 0.69 0.81 0.8 0.76 0.58 0.5 0.6234 0.7936 0.8220 0.7663 0.5408 0.5749 0.6311 0.5304 0.65 0.78 0.58 0.73 0.55 rs11544940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6267 0.7899 0.8093 0.5914 0.7768 0.5490 0.5730 0.6306 0.5242 0.6457 0.7849 0.7842 0.6225 0.7856 0.5518 0.5701 0.5570 hom 5668.66 174 2 191231458 . G A 5668.66 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4786;MQ=59.47;MQ0=0;QD=32.58;VQSLOD=9.2286;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,174:174:99:5668,439,0 2 191231503 191231503 G A exonic INPP1 synonymous SNV INPP1:NM_002194:exon4:c.G348A:p.V116V,INPP1:NM_001128928:exon5:c.G348A:p.V116V 0.28 0.22 0.22 0.46 0.23 0.25 0.2484 0.2258 0.2122 0.4717 0.1367 0.2416 0.2478 0.2432 0.23 0.22 0.24 0.23 0.25 rs4940 COSM3757854 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2439 0.2197 0.2127 0.2050 0.4779 0.1327 0.2469 0.2433 0.2414 0.2285 0.2176 0.2261 0.2119 0.4988 0.1380 0.2290 0.2041 hom 4953 156 2 191231503 . G A 4953 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.399;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3148;MQ=59.73;MQ0=0;MQRankSum=1.421;QD=31.75;ReadPosRankSum=-1.577;VQSLOD=3.7898;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,155:156:99:4921,366,0 2 191235901 191235901 A C exonic INPP1 synonymous SNV INPP1:NM_002194:exon6:c.A973C:p.R325R,INPP1:NM_001128928:exon7:c.A973C:p.R325R 0.88 0.8 0.92 0.91 0.87 0.93 0.8732 0.8202 0.9433 0.9115 0.8504 0.8574 0.8565 0.9115 0.85 0.82 0.86 0.81 0.85 rs1882891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8743 0.8164 0.9364 0.7669 0.9151 0.8554 0.8608 0.8670 0.9103 0.8559 0.8212 0.9224 0.7682 0.9168 0.8469 0.8691 0.8625 hom 2968.19 101 2 191235901 . A C 2968.19 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5717;MQ=59.07;MQ0=0;QD=29.39;VQSLOD=8.7661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:101:99:3001,244,0 2 192160839 192160839 A T exonic MYO1B synonymous SNV MYO1B:NM_001130158:exon3:c.A138T:p.T46T,MYO1B:NM_001161819:exon3:c.A138T:p.T46T,MYO1B:NM_001330237:exon3:c.A138T:p.T46T,MYO1B:NM_001330238:exon3:c.A138T:p.T46T,MYO1B:NM_012223:exon3:c.A138T:p.T46T 0.51 0.33 0.59 0.66 0.58 0.47 0.5571 0.3628 0.6170 0.6623 0.6514 0.5721 0.5325 0.4861 0.51 0.37 0.58 0.52 0.47 rs4853574 COSM4606514;COSM4606515 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5594 0.3559 0.5985 0.5149 0.6601 0.6493 0.5713 0.5238 0.4726 0.5544 0.3797 0.6146 0.4967 0.6747 0.6566 0.6145 0.5922 het 377.27 37 2 192160839 . A T 377.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.233;DP=37;Dels=0.00;FS=5.824;HRun=1;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;MQRankSum=-1.160;QD=10.20;ReadPosRankSum=0.696;VQSLOD=4.1064;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,15:37:99:407,0,617 2 192160875 192160875 C T exonic MYO1B synonymous SNV MYO1B:NM_001130158:exon3:c.C174T:p.Y58Y,MYO1B:NM_001161819:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330237:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330238:exon3:c.C174T:p.Y58Y,MYO1B:NM_012223:exon3:c.C174T:p.Y58Y 0.51 0.33 0.59 0.66 0.58 0.47 0.5578 0.3636 0.6203 0.6642 0.6510 0.5729 0.5321 0.4846 0.51 0.37 0.58 0.52 0.52 rs4853575 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5662 0.3617 0.6138 0.5202 0.6676 0.6512 0.5761 0.5351 0.4822 0.5544 0.3795 0.6163 0.4967 0.6749 0.6568 0.6144 0.5938 het 631.74 63 2 192160875 . C T 631.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.228;DP=63;Dels=0.00;FS=3.541;HRun=0;HaplotypeScore=2.5433;MQ=58.67;MQ0=0;MQRankSum=2.061;QD=10.03;ReadPosRankSum=-1.662;VQSLOD=5.0125;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,26:63:99:662,0,884 2 192250726 192250726 G A exonic MYO1B synonymous SNV MYO1B:NM_001130158:exon16:c.G1470A:p.E490E,MYO1B:NM_001161819:exon16:c.G1470A:p.E490E,MYO1B:NM_001330237:exon16:c.G1470A:p.E490E,MYO1B:NM_001330238:exon16:c.G1470A:p.E490E,MYO1B:NM_012223:exon16:c.G1470A:p.E490E 0.78 0.37 0.84 0.94 0.96 0.94 0.9113 0.4416 0.8568 0.9434 0.9813 0.9720 0.9240 0.9540 0.8 0.46 0.97 0.62 0.94 rs13018796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9170 0.4319 0.8547 0.8965 0.9440 0.9835 0.9766 0.9171 0.9542 0.8210 0.4458 0.8481 0.9040 0.9488 0.9851 0.9757 0.9448 hom 8435.26 246 2 192250726 . G A 8435.26 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6974;MQ=59.74;MQ0=0;QD=34.29;VQSLOD=8.3466;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:8434,677,0 2 192279327 192279327 T C exonic MYO1B synonymous SNV MYO1B:NM_012223:exon27:c.T2917C:p.L973L,MYO1B:NM_001330237:exon28:c.T3004C:p.L1002L,MYO1B:NM_001330238:exon28:c.T3004C:p.L1002L,MYO1B:NM_001130158:exon29:c.T3091C:p.L1031L,MYO1B:NM_001161819:exon29:c.T3091C:p.L1031L 0.75 0.26 0.84 0.94 0.96 0.94 0.9019 0.3482 0.8519 0.9430 0.9811 0.9704 0.9174 0.9536 0.77 0.37 0.97 0.6 0.86 rs2271767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9096 0.3388 0.8492 0.8932 0.9439 0.9830 0.9749 0.9131 0.9540 0.7949 0.3565 0.8461 0.8874 0.9494 0.9851 0.9744 0.9409 hom 2220.11 75 2 192279327 . T C 2220.11 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3302;MQ=60.00;MQ0=0;QD=29.60;VQSLOD=8.1572;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2253,169,0 2 192701393 192701393 A G exonic CAVIN2 synonymous SNV CAVIN2:NM_004657:exon2:c.T534C:p.G178G 0.63 0.51 0.67 0.76 0.58 0.7 0.6054 0.4928 0.7470 0.7430 0.5897 0.5671 0.62 0.6621 0.56 0.51 0.58 0.62 0.58 rs10167187 COSM5038193 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6130 0.4902 0.7383 0.7031 0.7417 0.5857 0.5585 0.6009 0.6563 0.5550 0.4879 0.7005 0.6987 0.7261 0.5741 0.5577 0.5898 hom 1780.81 54 2 192701393 . A G 1780.81 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=32.98;VQSLOD=9.9962;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1814,147,0 2 192701407 192701407 G C exonic CAVIN2 nonsynonymous SNV CAVIN2:NM_004657:exon2:c.C520G:p.Q174E 0.041 0.092 0.033 . 0.037 0.026 0.0400 0.0800 0.0289 0 0.0293 0.0436 0.0484 0.0341 0.053 0.066 0.047 0.12 0.025 rs61735649 COSM4133347 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.191 N -2.835 0.000 N 0.41 0.571 T 1.3 0.010 N 0.006 0.000 -1.024 0.224 T 0.001 0.004 T . . . -0.394 0.062 0.400 0.683 0.084 0.408 0.263 N c -1.020 -0.738 1.000 0.747 0.543 0.218 0 4.28 0.500 3.903 0.558 0.067 0.174 1.000 0.715 0.864 0.361 10.705 0.450 . ENSG00000138378.13|ENSG00000231858.1 Adipose_Subcutaneous|Adipose_Subcutaneous 0.0389 0.0793 0.0281 0.0940 0.0001 0.0289 0.0407 0.0537 0.0331 0.0477 0.0756 0.0467 0.1060 0 0.0318 0.0395 0.0420 het 365.60 33 2 192701407 . G C 365.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.633;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3670;MQ=58.59;MQ0=0;MQRankSum=0.994;QD=11.08;ReadPosRankSum=-0.307;VQSLOD=5.5503;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,15:33:99:396,0,564 2 196673533 196673533 A G exonic DNAH7 nonsynonymous SNV DNAH7:NM_018897:exon53:c.T9956C:p.L3319P 0.96 0.86 0.99 1. 1. 1. 0.9894 0.8777 0.9944 1 1 0.9998 0.9956 0.9996 0.96 0.88 1. 0.94 0.99 rs13411834 . . Benign not_specified RCV000454766.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.803 0.068 N 0.003 0.438 P -4.025 0.000 N -2.19 0.868 D 9.47 0.000 N 0.074 0.064 -0.827 0.535 T 0.000 0.000 T . . . 2.162 0.321 17.26 0.396 0.027 0.028 0.075 N c -0.912 -0.501 0.999 0.378 0.500 0.196 0 5.06 0.677 7.583 0.817 0.076 0.183 1.000 0.715 0.998 0.697 13.515 0.608 . . . 0.9913 0.8773 0.9942 0.9999 1 1 0.9998 0.9960 0.9996 0.9673 0.8864 0.9916 1 1 1 0.9996 0.9929 hom 2385.24 72 2 196673533 . A G 2385.24 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.13;VQSLOD=14.1612;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2418,190,0 2 196681546 196681546 G A exonic DNAH7 synonymous SNV DNAH7:NM_018897:exon51:c.C9567T:p.A3189A 0.0022 . 0.0029 . 0.008 0.001 0.0056 0.0015 0.0019 0 0.0073 0.0084 0.0067 0.0015 0.0068 0.0013 0.0093 . 0.016 rs139963761 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0055 0.0014 0.0027 0.0081 5.802e-05 0.0065 0.0084 0.0055 0.0015 0.0073 0.0008 0.0036 0.0066 0 0.0083 0.0117 0.0092 het 1454.02 113 2 196681546 . G A 1454.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.661;DP=113;Dels=0.00;FS=3.473;HRun=0;HaplotypeScore=2.8637;MQ=59.35;MQ0=0;MQRankSum=0.618;QD=12.87;ReadPosRankSum=-0.612;VQSLOD=4.6121;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,58:113:99:1484,0,1515 2 196791276 196791276 T G exonic DNAH7 synonymous SNV DNAH7:NM_018897:exon22:c.A3486C:p.A1162A 0.48 0.093 0.58 0.56 0.65 0.68 0.5893 0.1613 0.5754 0.5713 0.6513 0.6347 0.6080 0.6539 0.49 0.18 0.62 0.38 0.6 rs1489802 COSM4417850 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000455824.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5967 0.1615 0.5857 0.5269 0.5626 0.6617 0.6441 0.5804 0.6429 0.5130 0.1768 0.5671 0.5331 0.5535 0.6656 0.6582 0.6235 hom 2118.24 67 2 196791276 . T G 2118.24 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.62;VQSLOD=13.4245;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2151,163,0 2 196825238 196825238 C A exonic DNAH7 nonsynonymous SNV DNAH7:NM_018897:exon18:c.G2637T:p.M879I 0.012 0.003 0.02 . 0.035 0.0092 0.0296 0.0070 0.0120 0 0.0411 0.0431 0.0378 0.0109 0.029 0.0077 0.039 0.022 0.082 rs75001760 . . . . . . . . . . . . . 0.275 0.157 T 0.001 0.067 B 0.006 0.112 B 0.002 0.384 N 0.990 0.242 N 1.775 0.461 L 0.16 0.606 T -1.59 0.383 N 0.117 0.129 -1.032 0.199 T 0.045 0.194 T . . . 0.714 0.162 8.920 0.886 0.176 0.918 0.541 D c -0.258 -0.145 0.000 0.042 0.487 0.133 0 4.75 0.598 2.103 0.412 0.807 0.329 1.000 0.715 0.785 0.331 11.374 0.488 Dynein heavy chain\x2c domain-2 ENSG00000081320.6 Artery_Aorta 0.0285 0.0064 0.0123 0.0338 5.801e-05 0.0435 0.0418 0.0305 0.0120 0.0296 0.0069 0.0168 0.0430 0 0.0401 0.0435 0.0367 het 1386.54 123 2 196825238 . C A 1386.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.085;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9925;MQ=59.70;MQ0=0;MQRankSum=-0.259;QD=11.27;ReadPosRankSum=1.106;VQSLOD=6.0816;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,51:123:99:1417,0,2181 2 196851911 196851911 G A exonic DNAH7 nonsynonymous SNV DNAH7:NM_018897:exon14:c.C1633T:p.R545C 0.54 0.17 0.63 0.64 0.66 0.76 0.6312 0.2364 0.6478 0.6534 0.6710 0.6562 0.6498 0.7208 0.53 0.26 0.64 0.42 0.35 rs10931715 COSM4133349 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign not_specified RCV000455972.1 MedGen CN169374 . . . . . . 0.177 0.222 T 0.014 0.156 B 0.007 0.121 B 0.000 0.843 D 0.000 0.588 P 2.72 0.798 M 1.92 0.231 T -3.53 0.685 D 0.298 0.358 -0.992 0.322 T 0.000 0.000 T . . . 3.787 0.512 23.4 0.989 0.484 0.971 0.727 D c -0.012 0.113 0.031 0.140 0.487 0.133 0 4.86 0.625 4.984 0.633 0.154 0.240 1.000 0.715 0.996 0.625 9.738 0.394 . ENSG00000118997.9|ENSG00000118997.9|ENSG00000196950.9|ENSG00000118997.9|ENSG00000118997.9|ENSG00000118997.9|ENSG00000118997.9|ENSG00000118997.9|ENSG00000196950.9|ENSG00000118997.9|ENSG00000118997.9|ENSG00000203435.2|ENSG00000118997.9|ENSG00000118997.9|ENSG00000118997.9|ENSG00000118997.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.6352 0.2349 0.6550 0.5986 0.6525 0.6746 0.6601 0.6204 0.7113 0.5451 0.2444 0.6360 0.5993 0.6430 0.6823 0.6659 0.6347 hom 733 24 2 196851911 . G A 733 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56.43;MQ0=0;QD=30.54;VQSLOD=8.6606;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:60.19:766,60,0 2 196866420 196866420 C T exonic DNAH7 synonymous SNV DNAH7:NM_018897:exon11:c.G1152A:p.T384T 0.65 0.19 0.79 0.65 0.9 0.94 0.8282 0.2955 0.7692 0.6588 0.8993 0.9070 0.87 0.9255 0.73 0.34 0.91 0.51 0.86 rs6434811 COSM4417586;COSM4417587 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454893.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8339 0.2932 0.7780 0.8862 0.6570 0.9011 0.9092 0.8587 0.9211 0.7218 0.3180 0.7864 0.8642 0.6582 0.8970 0.9060 0.8684 hom 3559.17 123 2 196866420 . C T 3559.17 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9945;MQ=59.54;MQ0=0;QD=28.94;VQSLOD=8.6424;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:3559,262,0 2 197004439 197004439 A G exonic STK17B synonymous SNV STK17B:NM_004226:exon7:c.T741C:p.I247I 0.7 0.58 0.73 0.9 0.65 0.7 0.6710 0.5841 0.7653 0.9053 0.6629 0.6378 0.6842 0.6732 0.61 0.58 0.62 0.66 0.6 rs1054537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6487 0.5614 0.7301 0.5633 0.8913 0.6636 0.6249 0.6168 0.6444 0.6495 0.5805 0.7076 0.6093 0.8933 0.6834 0.6512 0.6772 hom 5310.10 177 2 197004439 . A G 5310.10 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6208;MQ=59.00;MQ0=0;QD=30.00;VQSLOD=9.3084;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5310,403,0 2 197021276 197021276 T C exonic STK17B synonymous SNV STK17B:NM_004226:exon3:c.A222G:p.R74R 0.47 0.1 0.59 0.55 0.61 0.66 0.5650 0.1676 0.5956 0.5639 0.6091 0.6008 0.5969 0.6300 0.45 0.19 0.59 0.37 0.55 rs10931726 COSM4419254 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5730 0.1650 0.5967 0.5544 0.5555 0.6140 0.6047 0.5584 0.6234 0.4878 0.1789 0.5647 0.5497 0.5494 0.6228 0.6170 0.5959 hom 2566.51 79 2 197021276 . T C 2566.51 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=32.49;VQSLOD=9.1304;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2600,199,0 2 197021372 197021372 T A exonic STK17B synonymous SNV STK17B:NM_004226:exon3:c.A126T:p.G42G 0.65 0.43 0.7 0.9 0.62 0.68 0.6387 0.4623 0.7502 0.9049 0.6411 0.6072 0.6582 0.6545 0.55 0.47 0.59 0.6 0.57 rs12478353 COSM4133352 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6451 0.4568 0.7420 0.5706 0.901 0.6489 0.6092 0.6217 0.6444 0.5938 0.4489 0.6909 0.5728 0.8937 0.6587 0.6223 0.6411 hom 2839.53 106 2 197021372 . T A 2839.53 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.07;MQ0=0;QD=26.79;VQSLOD=7.6908;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:2873,232,0 2 197118729 197118729 C T exonic HECW2 synonymous SNV HECW2:NM_001304840:exon17:c.G2376A:p.S792S,HECW2:NM_001348768:exon19:c.G3444A:p.S1148S,HECW2:NM_020760:exon19:c.G3444A:p.S1148S 0.97 0.9 0.99 1. 1. 1. 0.9913 0.9033 0.9974 0.9999 1 0.9998 0.9956 0.9998 0.97 0.91 1. 0.96 0.98 rs4850690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9933 0.9054 0.9955 1 0.9999 1 0.9998 0.9962 0.9998 0.9720 0.9022 0.9940 1 1 1 0.9997 0.9959 hom 2861.41 88 2 197118729 . C T 2861.41 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.52;VQSLOD=14.0829;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2894,229,0 2 197184321 197184321 C T exonic HECW2 synonymous SNV HECW2:NM_001304840:exon7:c.G225A:p.P75P,HECW2:NM_001348768:exon9:c.G1293A:p.P431P,HECW2:NM_020760:exon9:c.G1293A:p.P431P 0.73 0.39 0.82 0.97 0.83 0.77 0.7970 0.4603 0.8698 0.9715 0.8479 0.8171 0.7676 0.7662 0.69 0.46 0.81 0.65 0.89 rs1531111 COSM4133353 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8063 0.4496 0.8690 0.7852 0.9715 0.8417 0.8170 0.7883 0.7677 0.7272 0.4592 0.8544 0.8212 0.9660 0.8367 0.8170 0.8133 hom 4529.61 138 2 197184321 . C T 4529.61 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2859;MQ=59.56;MQ0=0;QD=32.82;VQSLOD=9.3603;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4529,352,0 2 197541296 197541296 G A exonic CCDC150 synonymous SNV CCDC150:NM_001080539:exon12:c.G1281A:p.E427E 0.071 0.097 0.088 0.006 0.13 0.029 0.1109 0.1043 0.0721 0.0045 0.1057 0.1482 0.1204 0.0465 0.12 0.094 0.13 0.11 . rs17271281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1042 0.1007 0.0693 0.1386 0.0057 0.1004 0.1431 0.1213 0.0475 0.1108 0.1022 0.0885 0.1159 0.0056 0.0945 0.1329 0.0990 het 449.94 44 2 197541296 . G A 449.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.844;DP=44;Dels=0.00;FS=3.516;HRun=1;HaplotypeScore=0.5784;MQ=59.48;MQ0=0;MQRankSum=0.675;QD=10.23;ReadPosRankSum=0.699;VQSLOD=6.5104;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,17:44:99:480,0,783 2 197870536 197870536 T C exonic ANKRD44 synonymous SNV ANKRD44:NM_001195144:exon21:c.A2229G:p.A743A 0.0004 . 0.0014 . 0.001 . 0.0012 0.0003 0.0003 0 0.0005 0.0020 0.0011 6.058e-05 0.0013 0.0002 0.0019 . . rs149494060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0003 0.0002 0.0020 0 0.0004 0.0025 0.0009 3.249e-05 0.0017 0.0005 0 0.0033 0 0.0003 0.0030 0.0020 het 3072.42 249 2 197870536 . T C 3072.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.083;DP=249;DS;Dels=0.00;FS=0.513;HRun=1;HaplotypeScore=0.8667;MQ=59.61;MQ0=0;MQRankSum=-0.967;QD=12.34;ReadPosRankSum=-0.105;VQSLOD=4.7726;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,122:249:99:3102,0,3539 2 198257795 198257795 T C exonic SF3B1 synonymous SNV SF3B1:NM_012433:exon24:c.A3657G:p.V1219V 0.72 0.88 0.63 0.52 0.73 0.75 0.6717 0.8417 0.4710 0.5433 0.5823 0.6850 0.6843 0.7534 0.74 0.83 0.69 0.76 0.72 rs4685 COSM3757859 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6584 0.8408 0.4935 0.7520 0.5357 0.5779 0.6813 0.6981 0.7549 0.6804 0.8292 0.5299 0.7517 0.5310 0.5539 0.6499 0.6245 het 1296.28 78 2 198257795 . T C 1296.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.164;DP=78;Dels=0.00;FS=11.736;HRun=0;HaplotypeScore=5.9106;MQ=57.45;MQ0=0;MQRankSum=0.781;QD=16.62;ReadPosRankSum=-0.327;VQSLOD=2.4166;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:34,44:78:99:1326,0,892 2 198265526 198265526 A G exonic SF3B1 synonymous SNV SF3B1:NM_012433:exon18:c.T2631C:p.G877G 0.72 0.88 0.63 0.51 0.73 0.76 0.6708 0.8393 0.4700 0.5361 0.5826 0.6847 0.6843 0.7542 0.74 0.83 0.69 0.75 0.71 rs788018 COSM3757860 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6579 0.8383 0.4928 0.7484 0.5294 0.5784 0.6814 0.6977 0.7563 0.6806 0.8284 0.5310 0.7450 0.5255 0.5545 0.6510 0.6301 het 852.55 101 2 198265526 . A G 852.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.278;DP=101;Dels=0.00;FS=1.692;HRun=0;HaplotypeScore=2.8922;MQ=59.36;MQ0=0;MQRankSum=0.585;QD=8.44;ReadPosRankSum=-1.300;VQSLOD=5.9838;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,38:101:99:883,0,1747 2 198283305 198283305 T C exonic SF3B1 synonymous SNV SF3B1:NM_012433:exon5:c.A423G:p.K141K 0.72 0.89 0.63 0.52 0.73 0.76 0.6725 0.8514 0.4710 0.5384 0.5826 0.6851 0.6865 0.7551 0.74 0.85 0.68 0.77 0.71 rs788023 COSM1129389 1(breast);2(haematopoietic_and_lymphoid_tissue);20(soft_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6584 0.8507 0.4923 0.7486 0.5316 0.5780 0.6812 0.6971 0.7554 0.6838 0.8395 0.5311 0.7450 0.5273 0.5554 0.6508 0.6281 het 1021.90 79 2 198283305 . T C 1021.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.035;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8658;MQ=59.53;MQ0=0;MQRankSum=-1.839;QD=12.94;ReadPosRankSum=-0.456;VQSLOD=5.6748;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,40:79:99:1052,0,960 2 198327314 198327314 G A exonic COQ10B synonymous SNV COQ10B:NM_001320818:exon2:c.G156A:p.K52K,COQ10B:NM_001320819:exon3:c.G222A:p.K74K,COQ10B:NM_001320820:exon3:c.G177A:p.K59K,COQ10B:NM_025147:exon3:c.G306A:p.K102K 0.15 0.053 0.17 0.23 0.22 0.095 0.1741 0.0755 0.1959 0.2470 0.1859 0.1892 0.2026 0.1152 0.16 0.086 0.2 0.13 0.18 rs3754822 COSM4417326 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1758 0.0711 0.1866 0.2292 0.2413 0.1845 0.1855 0.2031 0.1135 0.1547 0.0758 0.1899 0.2318 0.2602 0.1796 0.1795 0.1612 het 947.67 76 2 198327314 . G A 947.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.818;DP=76;Dels=0.00;FS=5.731;HRun=2;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;MQRankSum=0.695;QD=12.47;ReadPosRankSum=-0.162;VQSLOD=5.7475;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,34:76:99:978,0,1184 2 198362018 198362018 T C exonic HSPD1 synonymous SNV HSPD1:NM_002156:exon3:c.A273G:p.K91K,HSPD1:NM_199440:exon3:c.A273G:p.K91K 0.65 0.75 0.62 0.47 0.73 0.67 0.6490 0.7158 0.4642 0.5216 0.5817 0.6834 0.6707 0.6898 0.7 0.72 0.68 0.72 0.72 rs8539 COSM3757863;COSM3757861;COSM3757862 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign not_specified|Spastic_Paraplegia\x2c_Dominant RCV000117240.3|RCV000291547.1 MedGen|MedGen CN169374|CN239430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6396 0.7138 0.4872 0.7455 0.5154 0.5780 0.6800 0.6876 0.6946 0.6448 0.7100 0.5227 0.7417 0.5093 0.5544 0.6491 0.6176 het 2311.94 165 2 198362018 . T C 2311.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.626;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=2.024;QD=14.01;ReadPosRankSum=-0.644;VQSLOD=6.3032;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,86:165:99:2342,0,2145 2 198508951 198508951 G A exonic RFTN2 synonymous SNV RFTN2:NM_144629:exon3:c.C369T:p.L123L 0.68 0.87 0.62 0.46 0.74 0.64 0.6600 0.8390 0.4734 0.5003 0.5984 0.6912 0.6784 0.6591 0.74 0.83 0.69 0.71 0.75 rs10497806 COSM3757865 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6487 0.8370 0.4978 0.7580 0.4903 0.5929 0.6873 0.6912 0.6658 0.6835 0.8290 0.5371 0.7384 0.4789 0.5683 0.6585 0.6265 het 1317.42 103 2 198508951 . G A 1317.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.919;DP=103;Dels=0.00;FS=2.601;HRun=1;HaplotypeScore=2.6949;MQ=59.33;MQ0=0;MQRankSum=0.439;QD=12.79;ReadPosRankSum=0.327;VQSLOD=6.6667;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,53:103:99:1347,0,1270 2 198950240 198950240 G A exonic PLCL1 nonsynonymous SNV PLCL1:NM_006226:exon2:c.G1999A:p.V667I 0.38 0.24 0.4 0.21 0.52 0.57 0.4477 0.2932 0.2553 0.2223 0.3943 0.5025 0.4745 0.5934 0.43 0.3 0.49 0.38 0.45 rs1064213 COSM3736232;COSM3736233 1(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.005 0.654 D 1.0 0.899 D 0.995 0.818 D 0.001 0.406 N 0.000 0.588 P 3.145 0.885 M -0.02 0.629 T -0.97 0.258 N 0.246 0.364 -0.928 0.445 T 0.000 0.000 T . . . 5.444 0.739 26.1 0.998 0.910 0.989 0.889 D c 0.922 0.884 1.000 0.747 0.638 0.428 0 5.36 0.765 9.989 0.992 1.048 0.713 1.000 0.715 0.996 0.625 19.291 0.941 PLC-like phosphodiesterase\x2c TIM beta/alpha-barrel domain|Phospholipase C\x2c phosphatidylinositol-specific\x2c Y domain ENSG00000162944.6|ENSG00000162944.6|ENSG00000115896.11 Adipose_Subcutaneous|Lung|Whole_Blood 0.4380 0.2836 0.2822 0.5189 0.2157 0.3888 0.4983 0.4646 0.5950 0.3873 0.2853 0.3198 0.5099 0.1865 0.3663 0.4721 0.4216 het 701.89 67 2 198950240 . G A 701.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.646;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.548;QD=10.48;ReadPosRankSum=-0.952;VQSLOD=11.6351;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,30:67:99:732,0,1085 2 200790216 200790216 C T exonic C2orf69 synonymous SNV C2orf69:NM_153689:exon2:c.C765T:p.D255D 0.077 0.0023 0.089 0.17 0.026 0.13 0.0576 0.0071 0.1177 0.1707 0.0160 0.0333 0.0435 0.1009 0.027 0.0092 0.035 0.043 . rs12476690 COSM4001459 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0594 0.0069 0.1144 0.0277 0.1644 0.0176 0.0346 0.0474 0.0988 0.0310 0.0086 0.0955 0.0132 0.1576 0.0143 0.0314 0.0266 het 1196.64 108 2 200790216 . C T 1196.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.758;DP=108;Dels=0.00;FS=3.570;HRun=0;HaplotypeScore=2.6000;MQ=59.61;MQ0=0;MQRankSum=0.790;QD=11.08;ReadPosRankSum=0.265;VQSLOD=5.5613;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,49:108:99:1227,0,1447 2 200813126 200813126 T C exonic TYW5 nonsynonymous SNV TYW5:NM_001039693:exon2:c.A148G:p.S50G 0.075 0.0023 0.089 0.15 0.026 0.14 0.0559 0.0069 0.1193 0.1483 0.0156 0.0331 0.0422 0.1012 0.027 0.009 0.035 0.043 0.041 rs10497844 COSM5958401 1(thyroid) . . . . . . . . . . . 0.095 0.312 T 0.2 0.280 B 0.034 0.241 B 0.013 0.291 U 0.150 0.352 P 2.89 0.840 M -0.57 0.713 T -2.44 0.534 N 0.232 0.284 -1.012 0.264 T 0.001 0.004 T . . . 1.205 0.211 11.77 0.993 0.571 0.690 0.338 D c -0.166 -0.082 0.987 0.312 0.707 0.730 0 4.94 0.645 0.613 0.238 1.061 0.807 0.752 0.289 0.998 0.697 14.750 0.690 . . . 0.0578 0.0069 0.1156 0.0278 0.1405 0.0172 0.0346 0.0469 0.0989 0.0295 0.0086 0.0990 0.0132 0.1270 0.0135 0.0316 0.0265 het 1411.02 120 2 200813126 . T C 1411.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.211;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=58.55;MQ0=0;MQRankSum=0.980;QD=11.76;ReadPosRankSum=-0.590;VQSLOD=6.2886;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,55:120:99:1441,0,1606 2 201253956 201253956 A G exonic SPATS2L nonsynonymous SNV SPATS2L:NM_001282744:exon3:c.A79G:p.T27A 0.23 0.18 0.19 0.15 0.31 0.34 0.3886 0.2667 0.3929 0.2640 0.3828 0.4303 0.3710 0.3629 0.28 0.19 0.32 0.3 . rs842823 COSM149038 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . 0.103 0.301 T 0.018 0.165 B 0.01 0.139 B . . . 1.000 0.588 P . . . . . . -0.75 0.210 N 0.178 0.217 -0.991 0.324 T 0.000 0.000 T . . . 2.185 0.324 17.41 0.979 0.364 0.206 0.209 N c -0.602 -0.572 1.000 0.407 0.706 0.609 0 -0.499 0.114 0.200 0.169 0.157 0.243 0.377 0.258 0.987 0.523 7.664 0.274 UBA-like . . 0.2770 0.1852 0.1918 0.3424 0.1426 0.3051 0.3144 0.2858 0.3227 0.2737 0.1942 0.2105 0.3543 0.1578 0.3066 0.3257 0.2882 hom 498.63 18 2 201253956 . A G 498.63 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.70;VQSLOD=14.0421;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:45.12:532,45,0 2 201355106 201355106 G A exonic KCTD18 nonsynonymous SNV KCTD18:NM_001321547:exon7:c.C998T:p.A333V,KCTD18:NM_001321548:exon7:c.C371T:p.A124V,KCTD18:NM_001321550:exon7:c.C371T:p.A124V,KCTD18:NM_152387:exon7:c.C998T:p.A333V 0.099 0.039 0.14 0.002 0.23 0.11 0.1756 0.0629 0.1043 0.0005 0.1835 0.2380 0.2126 0.1306 0.17 0.068 0.23 0.087 0.25 rs13018579 COSM3757866 1(pancreas);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.598 0.057 T 0.02 0.170 B 0.018 0.173 B 0.370 0.044 N 1 0.090 P 0 0.065 N 1.32 0.352 T -0.22 0.105 N 0.039 0.019 -1.027 0.213 T 0.000 0.000 T . . . 1.008 0.190 10.71 0.984 0.402 0.239 0.220 N c -1.059 -1.026 0.996 0.346 0.707 0.730 0 2.38 0.283 2.302 0.431 -0.033 0.126 0.031 0.203 0.001 0.043 6.697 0.222 . . . 0.1758 0.0606 0.1121 0.2938 0.0004 0.1874 0.2363 0.2147 0.1282 0.1625 0.0664 0.1456 0.3046 0.0006 0.1842 0.2282 0.1748 het 1437.57 93 2 201355106 . G A 1437.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.052;DP=93;Dels=0.00;FS=20.875;HRun=0;HaplotypeScore=3.2165;MQ=59.50;MQ0=0;MQRankSum=-0.841;QD=15.46;ReadPosRankSum=0.262;VQSLOD=2.2938;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,53:93:99:1468,0,1040 2 201437328 201437328 C A exonic SGO2 synonymous SNV SGO2:NM_001160033:exon7:c.C2259A:p.I753I,SGO2:NM_001160046:exon7:c.C2259A:p.I753I,SGO2:NM_152524:exon7:c.C2259A:p.I753I 0.21 0.16 0.2 0.29 0.25 0.16 0.2296 0.1500 0.1946 0.2969 0.2288 0.2521 0.2422 0.1748 0.21 0.14 0.25 0.24 0.27 rs35987478 COSM3757870 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2292 0.1434 0.1948 0.3056 0.2986 0.2289 0.2473 0.2499 0.1769 0.2193 0.1519 0.2265 0.2781 0.3075 0.2168 0.2475 0.2300 het 93.01 24 2 201437328 . C A 93.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.995;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=58.13;MQ0=0;MQRankSum=-0.284;QD=3.88;ReadPosRankSum=1.422;VQSLOD=4.3839;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,5:24:99:123,0,504 2 201437334 201437334 T C exonic SGO2 synonymous SNV SGO2:NM_001160033:exon7:c.T2265C:p.P755P,SGO2:NM_001160046:exon7:c.T2265C:p.P755P,SGO2:NM_152524:exon7:c.T2265C:p.P755P 0.73 0.7 0.66 0.81 0.8 0.64 0.7516 0.6897 0.6577 0.8069 0.7719 0.7880 0.7780 0.6681 0.76 0.7 0.79 0.76 0.71 rs12052989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7490 0.6886 0.6616 0.7974 0.8062 0.7756 0.7843 0.7793 0.6743 0.7575 0.6965 0.7062 0.7980 0.8112 0.7698 0.7857 0.7689 het 126.91 28 2 201437334 . T C 126.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.849;DP=28;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.7887;MQ=57.55;MQ0=0;MQRankSum=0.478;QD=4.53;ReadPosRankSum=0.106;VQSLOD=4.9893;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,7:28:99:157,0,578 2 201521609 201521609 C T exonic AOX1 synonymous SNV AOX1:NM_001159:exon27:c.C3120T:p.V1040V 0.002 . 0.0014 . 0.0089 . 0.0037 0.0009 0.0010 0 0.0027 0.0060 0.0022 0.0006 0.0051 0.0005 0.0074 0.022 . rs114924183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0008 0.0008 0.0001 0 0.0037 0.0062 0.0020 0.0005 0.0035 0.0016 0.0012 0 0 0.0029 0.0053 0.0051 het 1335.68 110 2 201521609 . C T 1335.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.422;DP=110;Dels=0.00;FS=1.615;HRun=1;HaplotypeScore=5.9873;MQ=59.07;MQ0=0;MQRankSum=0.520;QD=12.14;ReadPosRankSum=0.658;VQSLOD=4.9493;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:53,57:110:99:1366,0,1394 2 202122995 202122995 A G exonic CASP8 nonsynonymous SNV CASP8:NM_001080125:exon1:c.A41G:p.K14R 0.65 0.59 0.59 0.7 0.69 0.67 0.6673 0.5770 0.5401 0.7112 0.6449 0.6974 0.6378 0.6761 0.67 0.59 0.71 0.62 0.64 rs3769823 COSM4133375 1(thyroid);1(large_intestine) Benign not_specified RCV000455301.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.008 0.135 B 0.015 0.162 B 0.000 0.003 U 1 0.202 P . . . 4.26 0.026 T 0.1 0.058 N 0.066 0.058 -0.995 0.313 T 0.000 0.000 T . . . -0.732 0.043 0.061 0.974 0.332 0.181 0.199 N c -0.907 -0.875 1.000 0.747 0.267 0.040 1 2.78 0.316 1.727 0.375 0.107 0.202 0.989 0.365 0.001 0.043 6.134 0.193 Death effector domain|Death-like domain ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000003400.10|ENSG00000155749.8|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.6601 0.5765 0.5388 0.5754 0.7091 0.6480 0.7057 0.6466 0.6796 0.6618 0.5774 0.5658 0.6167 0.7326 0.6444 0.7127 0.6714 het 1928.74 167 2 202122995 . A G 1928.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.447;DP=167;DS;Dels=0.00;FS=0.592;HRun=0;HaplotypeScore=2.6653;MQ=59.72;MQ0=0;MQRankSum=0.602;QD=11.55;ReadPosRankSum=-0.105;VQSLOD=6.6120;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,73:167:99:1959,0,2629 2 202215492 202215492 C G exonic ALS2CR12 nonsynonymous SNV ALS2CR12:NM_001127391:exon3:c.G127C:p.V43L,ALS2CR12:NM_001289993:exon3:c.G127C:p.V43L,ALS2CR12:NM_139163:exon3:c.G127C:p.V43L 0.71 0.79 0.5 0.73 0.61 0.84 0.6339 0.7486 0.4927 0.7314 0.5797 0.5966 0.5973 0.7839 0.65 0.75 0.59 0.74 0.51 rs13014235 COSM5765844 1(large_intestine) . . . . . . . . . . . 0.997 0.023 T 0.0 0.026 B 0.0 0.013 B 0.231 0.035 N 1 0.090 P -1.735 0.003 N 1.06 0.398 T 0.66 0.023 N 0.016 0.020 -0.984 0.340 T 0.000 0.000 T . . . -1.108 0.028 0.010 0.143 0.003 0.002 0.009 N c -1.443 -1.394 0.013 0.124 0.554 0.283 0 -0.808 0.103 -1.060 0.036 0.136 0.221 0.001 0.137 0.417 0.257 6.575 0.216 . ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000064012.17|ENSG00000064012.17|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.6207 0.7522 0.4833 0.5471 0.7343 0.5740 0.5992 0.5821 0.7832 0.6456 0.7449 0.5048 0.5596 0.7593 0.5734 0.6049 0.6010 het 655.73 55 2 202215492 . C G 655.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.800;DP=55;Dels=0.00;FS=1.038;HRun=0;HaplotypeScore=0.0000;MQ=57.71;MQ0=0;MQRankSum=-1.557;QD=11.92;ReadPosRankSum=-0.513;VQSLOD=4.2567;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,28:55:99:686,0,732 2 202252478 202252478 A G exonic TRAK2 synonymous SNV TRAK2:NM_015049:exon13:c.T1644C:p.S548S 0.021 0.0038 0.052 . 0.059 0.0031 0.0399 0.0085 0.0326 0 0.0431 0.0583 0.0386 0.0094 0.044 0.0093 0.062 0.033 0.041 rs35620793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0403 0.0088 0.0357 0.0887 5.803e-05 0.0385 0.0565 0.0566 0.0084 0.0355 0.0105 0.0407 0.0828 0 0.0384 0.0519 0.0356 het 1229.85 144 2 202252478 . A G 1229.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.060;DP=144;Dels=0.00;FS=9.955;HRun=0;HaplotypeScore=4.7620;MQ=59.70;MQ0=0;MQRankSum=-0.481;QD=8.54;ReadPosRankSum=-0.169;VQSLOD=3.5226;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,49:144:99:1260,0,2559 2 202252539 202252539 G A exonic TRAK2 nonsynonymous SNV TRAK2:NM_015049:exon13:c.C1583T:p.T528I 0.24 0.21 0.39 0.24 0.31 0.09 0.2836 0.2331 0.4107 0.2410 0.3337 0.3091 0.3051 0.1247 0.28 0.23 0.3 0.28 0.3 rs2244438 COSM3757879 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.052 0.390 T 0.082 0.231 B 0.03 0.205 B 0.110 0.195 N 0.926 0.271 P 2.625 0.771 M 0.9 0.453 T -2.34 0.518 N 0.055 0.037 -0.992 0.321 T 0.000 0.000 T . . . 2.148 0.319 17.17 0.982 0.382 0.211 0.211 N c -0.429 -0.445 0.184 0.179 0.732 0.924 0 4.07 0.466 2.064 0.408 0.143 0.228 0.029 0.202 0.041 0.157 10.478 0.437 Trafficking kinesin-binding protein domain ENSG00000064012.17|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000115993.7|ENSG00000064012.17 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.2938 0.2309 0.4153 0.3292 0.2392 0.3380 0.3073 0.3283 0.1249 0.2810 0.2279 0.3933 0.3344 0.2157 0.3423 0.2956 0.3082 het 1498.17 147 2 202252539 . G A 1498.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.654;DP=147;Dels=0.00;FS=5.282;HRun=0;HaplotypeScore=4.0969;MQ=59.84;MQ0=0;MQRankSum=0.425;QD=10.19;ReadPosRankSum=0.335;VQSLOD=4.8826;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,63:147:99:1528,0,2469 2 202260049 202260049 G A exonic TRAK2 synonymous SNV TRAK2:NM_015049:exon8:c.C888T:p.H296H 0.97 0.91 0.99 1. 1. 1. 0.9924 0.9206 0.9938 1 1 0.9998 0.9923 1 0.97 0.92 1. 0.99 1. rs2256584 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9939 0.9182 0.9943 1 1 1 0.9997 0.9954 0.9999 0.9779 0.9230 0.9869 1 1 1 1 0.9980 hom 4484.64 143 2 202260049 . G A 4484.64 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4258;MQ=58.88;MQ0=0;QD=31.36;VQSLOD=9.2963;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4484,361,0 2 202264156 202264156 C T exonic TRAK2 nonsynonymous SNV TRAK2:NM_015049:exon5:c.G424A:p.V142I 0.54 0.35 0.56 0.49 0.66 0.7 0.6229 0.3698 0.5585 0.5013 0.6546 0.6709 0.6355 0.6834 0.57 0.37 0.67 0.49 0.63 rs13022344 COSM3757880 2(large_intestine) . . . . . . . . . . . 0.452 0.165 T 0.0 0.102 B 0.001 0.127 B 0.015 0.284 N 0.906 0.276 P 0.915 0.234 L 2.19 0.187 T -0.47 0.164 N 0.061 0.045 -0.988 0.331 T 0.000 0.000 T . . . 2.425 0.353 18.98 0.978 0.353 0.846 0.434 D c -0.315 -0.093 1.000 0.517 0.706 0.609 0 5.2 0.716 1.866 0.389 0.059 0.165 1.000 0.715 1.000 0.888 6.063 0.189 HAP1\x2c N-terminal ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000115993.7|ENSG00000064012.17 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.6220 0.3667 0.5532 0.6154 0.4994 0.6496 0.6740 0.6169 0.6870 0.5831 0.3818 0.5624 0.6133 0.5112 0.6471 0.6897 0.6418 het 952.82 75 2 202264156 . C T 952.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.424;DP=75;Dels=0.00;FS=0.886;HRun=0;HaplotypeScore=2.9903;MQ=58.31;MQ0=0;MQRankSum=1.863;QD=12.70;ReadPosRankSum=0.624;VQSLOD=5.5942;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,42:75:99:983,0,854 2 202410300 202410300 A T exonic C2CD6 nonsynonymous SNV C2CD6:NM_001168216:exon11:c.T1128A:p.H376Q,C2CD6:NM_001168217:exon11:c.T1128A:p.H376Q,C2CD6:NM_001168221:exon11:c.T1128A:p.H376Q,C2CD6:NM_152525:exon11:c.T1128A:p.H376Q 0.51 0.32 0.56 0.76 0.46 0.55 0.4651 0.3339 0.6189 0.7403 0.4802 0.4128 0.4403 0.5007 0.38 0.33 0.41 0.42 0.3 rs10804117 . . . . . . . . . . . . . 1.0 0.044 T 0.0 0.026 B 0.0 0.013 B 0.003 0.010 N 1 0.090 P -0.345 0.033 N 1.08 0.394 T 0.59 0.026 N 0.044 0.024 -0.989 0.328 T 0.000 0.000 T . . . -2.575 0.003 0.001 0.307 0.017 0.000 0.002 N c -2.100 -2.129 0.001 0.075 0.487 0.133 0 -6.45 0.017 -2.124 0.014 -0.967 0.023 0.000 0.063 0.000 0.016 0.481 0.005 . ENSG00000234842.1|ENSG00000234842.1|ENSG00000224299.1|ENSG00000234842.1|ENSG00000224299.1|ENSG00000224299.1|ENSG00000155754.10|ENSG00000155755.14|ENSG00000224299.1|ENSG00000234842.1|ENSG00000234842.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Thyroid 0.4506 0.3166 0.5837 0.4190 0.7209 0.4780 0.4013 0.4360 0.4760 0.4095 0.3332 0.5653 0.4178 0.7357 0.4356 0.4037 0.4464 het 982.33 92 2 202410300 . A T 982.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.519;DP=92;Dels=0.00;FS=3.991;HRun=1;HaplotypeScore=1.9780;MQ=57.70;MQ0=0;MQRankSum=-0.644;QD=10.68;ReadPosRankSum=-0.332;VQSLOD=4.4110;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,46:92:99:1012,0,1057 2 202469361 202469361 C T exonic C2CD6 synonymous SNV C2CD6:NM_001168216:exon2:c.G291A:p.T97T,C2CD6:NM_001168217:exon2:c.G291A:p.T97T,C2CD6:NM_001168221:exon2:c.G291A:p.T97T,C2CD6:NM_152525:exon2:c.G291A:p.T97T 0.98 0.92 0.99 1. 1. 1. 0.9936 0.9437 0.9940 1 1 0.9984 0.9901 0.9993 0.98 0.94 1. 0.99 1. rs12474206 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9942 0.9389 0.9940 0.9823 0.9999 1 0.9993 0.9940 0.9992 0.9827 0.9407 0.9893 0.9967 1 1 0.9997 0.9969 hom 2736.92 98 2 202469361 . C T 2736.92 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=27.93;VQSLOD=8.0739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:2770,220,0 2 202557702 202557702 C T exonic MPP4 nonsynonymous SNV MPP4:NM_033066:exon3:c.G130A:p.G44S 0.97 0.91 0.99 1. 1. 1. 0.9924 0.9146 0.9936 1 1 0.9998 0.9955 1 0.97 0.91 1. 0.98 . rs6725443 COSM4133377;COSM4133379;COSM4133378 1(thyroid) . . . . . . . . . . . 1.0 0.032 T 0.0 0.131 B 0.001 0.080 B 0.000 0.469 N 1.000 0.090 P -2.24 0.001 N 3.65 0.043 T 1.87 0.006 N 0.224 0.275 -0.987 0.333 T 0.000 0.000 T . . . 1.638 0.258 14.06 0.943 0.241 0.079 0.137 N c -0.819 -0.582 1.000 0.432 0.651 0.465 0 3.92 0.444 1.687 0.371 0.154 0.240 1.000 0.715 0.995 0.604 7.107 0.244 L27 domain . . 0.9937 0.9111 0.9955 1 1 1 0.9999 0.9947 0.9999 0.9757 0.9149 0.9952 1 1 1 0.9997 0.9980 hom 1157.66 38 2 202557702 . C T 1157.66 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=57.36;MQ0=1;QD=30.46;VQSLOD=7.4318;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:90.29:1191,90,0 2 202575821 202575821 G A exonic ALS2 synonymous SNV ALS2:NM_020919:exon26:c.C4015T:p.L1339L 0.91 0.81 0.89 0.97 0.92 0.97 0.9232 0.8239 0.8948 0.9849 0.9566 0.9222 0.9308 0.9603 0.89 0.82 0.92 0.88 0.9 rs3219168 . . Benign|Benign|Benign not_specified|Amyotrophic_Lateral_Sclerosis\x2c_Recessive|ALS2-Related_Spectrum_Disorders RCV000250217.1|RCV000283291.1|RCV000347093.1 MedGen|MedGen|MedGen CN169374|CN239196|CN239188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9231 0.8194 0.8928 0.9163 0.9861 0.9544 0.9213 0.9141 0.9602 0.8989 0.8209 0.8950 0.9073 0.9858 0.9553 0.9203 0.9202 het 923.11 97 2 202575821 . G A 923.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.075;DP=97;Dels=0.00;FS=0.802;HRun=1;HaplotypeScore=1.9328;MQ=59.23;MQ0=0;MQRankSum=-0.940;QD=9.52;ReadPosRankSum=-1.277;VQSLOD=5.9793;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,38:97:99:953,0,1502 2 202625615 202625615 C T exonic ALS2 nonsynonymous SNV ALS2:NM_001135745:exon4:c.G1102A:p.V368M,ALS2:NM_020919:exon4:c.G1102A:p.V368M 0.9 0.76 0.93 1. 0.9 0.95 0.9106 0.7836 0.9351 0.9999 0.9241 0.9018 0.9154 0.9519 0.86 0.78 0.9 0.87 0.85 rs3219156 . . Benign|Benign|Benign not_specified|ALS2-Related_Spectrum_Disorders|Amyotrophic_Lateral_Sclerosis\x2c_Recessive RCV000243956.1|RCV000269440.1|RCV000326864.1 MedGen|MedGen|MedGen CN169374|CN239188|CN239196 . . . . . . 0.191 0.226 T 0.006 0.126 B 0.009 0.133 B 0.335 0.042 N 1 0.090 P 0.55 0.145 N 0.48 0.560 T -0.06 0.098 N 0.018 0.015 -0.997 0.307 T 0.000 0.000 T . . . -0.888 0.036 0.027 0.504 0.043 0.056 0.113 N c -2.048 -2.020 0.499 0.209 0.706 0.609 0 -3.78 0.040 -1.951 0.016 -3.533 0.001 0.000 0.063 0.001 0.043 8.714 0.334 . . . 0.9130 0.7821 0.9345 0.9028 0.9998 0.9213 0.9001 0.9040 0.9511 0.8691 0.7876 0.9129 0.8940 0.9994 0.9235 0.8846 0.9033 het 1830.55 130 2 202625615 . C T 1830.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.874;DP=130;Dels=0.00;FS=0.947;HRun=1;HaplotypeScore=3.1473;MQ=59.32;MQ0=0;MQRankSum=-1.127;QD=14.08;ReadPosRankSum=1.491;VQSLOD=5.7588;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,67:130:99:1861,0,1673 2 203820453 203820453 T C exonic CARF nonsynonymous SNV CARF:NM_001282912:exon5:c.T350C:p.I117T,CARF:NM_001282910:exon6:c.T386C:p.I129T,CARF:NM_001322429:exon6:c.T578C:p.I193T,CARF:NM_001104586:exon7:c.T614C:p.I205T,CARF:NM_001282911:exon7:c.T386C:p.I129T,CARF:NM_001322428:exon7:c.T614C:p.I205T,CARF:NM_001322427:exon8:c.T614C:p.I205T,CARF:NM_024744:exon8:c.T614C:p.I205T . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.401 0.574 T 0.001 0.331 B 0.002 0.362 B 0.239 0.157 N 0.998 0.226 N -1.245 0.008 N . . . -0.39 0.187 N 0.074 0.134 -1.022 0.231 T 0.027 0.117 T 0.002 0.027 T 0.925 0.182 10.22 0.722 0.096 0.423 0.266 N c -0.517 -0.313 0.003 0.097 0.638 0.428 0 3.62 0.405 1.988 0.401 0.913 0.425 0.981 0.351 0.995 0.604 5.711 0.171 . . . . . . . . . . . . . . . . . . . . het 487.80 56 2 203820453 . T C 487.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.102;DP=56;Dels=0.00;FS=5.429;HRun=0;HaplotypeScore=3.4885;MQ=59.33;MQ0=0;MQRankSum=-0.176;QD=8.71;ReadPosRankSum=0.310;VQSLOD=3.1909;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,22:56:99:518,0,876 2 204001482 204001482 A G exonic NBEAL1 nonsynonymous SNV NBEAL1:NM_001114132:exon28:c.A4463G:p.D1488G 0.0002 . 0.0014 . . . 5.823e-05 0 0.0003 0 0 3.003e-05 0.0011 0 . . . . . rs182954834 . . . . . . . . . . . . . 0.176 0.223 T 0.976 0.564 D 0.612 0.493 P 0.588 0.111 N 1.000 0.548 D 2.56 0.750 M 0.43 0.568 T -5.61 0.867 D 0.398 0.457 -0.820 0.540 T 0.233 0.600 T 0.040 0.591 D 3.884 0.524 23.5 0.998 0.921 0.995 0.972 D c 0.336 0.357 0.270 0.189 0.651 0.465 0 4.78 0.605 7.111 0.765 0.203 0.253 1.000 0.715 1.000 0.888 13.064 0.583 . . . 4.087e-05 0 0.0002 0 0 0 1.801e-05 0.0002 0 . . . . . . . . het 2228.33 201 2 204001482 . A G 2228.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.744;DP=201;Dels=0.00;FS=2.460;HRun=1;HaplotypeScore=2.8729;MQ=59.35;MQ0=0;MQRankSum=0.575;QD=11.09;ReadPosRankSum=0.767;VQSLOD=4.7912;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,94:201:99:2258,0,2707 2 204062061 204062061 A G exonic NBEAL1 nonsynonymous SNV NBEAL1:NM_001114132:exon47:c.A6988G:p.I2330V 0.86 0.63 0.94 0.92 0.96 0.95 0.9359 0.7055 0.9489 0.9240 0.9681 0.9634 0.9588 0.9445 0.89 0.74 0.96 0.86 0.95 rs4675323 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.491 N 1.000 0.210 P -1.945 0.002 N 0.82 0.481 T 0.65 0.024 N 0.014 0.009 -0.949 0.412 T 0.000 0.000 T . . . 0.486 0.141 7.323 0.315 0.018 0.128 0.173 N c -0.881 -0.580 0.001 0.086 0.651 0.465 0 3.88 0.438 5.251 0.650 -0.739 0.035 1.000 0.715 0.640 0.296 10.134 0.417 . ENSG00000163596.12 Brain_Caudate_basal_ganglia 0.9401 0.7030 0.9457 0.9684 0.9251 0.9678 0.9624 0.9559 0.9469 0.8939 0.7142 0.9535 0.9603 0.9106 0.9713 0.9688 0.9704 hom 2395.45 86 2 204062061 . A G 2395.45 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;QD=27.85;VQSLOD=8.0571;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2428,193,0 2 204116690 204116690 C T exonic CYP20A1 nonsynonymous SNV CYP20A1:NM_177538:exon4:c.C290T:p.S97L 0.87 0.66 0.94 0.93 0.96 0.95 0.9364 0.7209 0.9501 0.9269 0.9682 0.9633 0.9570 0.9441 0.89 0.74 0.97 0.75 0.83 rs2043449 . . . . . . . . . . . . . 0.662 0.047 T 0.0 0.090 B 0.001 0.063 B 0.041 0.239 N 0.735 0.298 P 0.22 0.096 N -0.41 0.694 T -0.76 0.212 N 0.117 0.294 -0.970 0.373 T 0.000 0.000 T . . . 0.660 0.157 8.565 0.382 0.025 0.144 0.182 N c -1.718 -1.709 0.818 0.244 0.732 0.924 0 -5.93 0.021 -0.098 0.109 -2.020 0.005 0.152 0.235 0.966 0.452 15.475 0.751 . ENSG00000163596.12 Brain_Caudate_basal_ganglia 0.9423 0.7156 0.9476 0.9709 0.9300 0.9680 0.9620 0.9581 0.9466 0.8982 0.7291 0.9550 0.9636 0.9143 0.9713 0.9684 0.9711 hom 2669.26 88 2 204116690 . C T 2669.26 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.33;VQSLOD=14.2267;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2702,220,0 2 204154552 204154552 C T exonic CYP20A1 nonsynonymous SNV CYP20A1:NM_177538:exon10:c.C1036T:p.L346F 0.4 0.15 0.44 0.32 0.56 0.63 0.5027 0.2094 0.4512 0.2977 0.4666 0.5599 0.5132 0.6133 0.45 0.22 0.56 0.39 0.52 rs1048013 COSM4419542 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.11 0.291 T 0.003 0.119 B 0.015 0.188 B 0.000 0.629 D 0.000 0.497 P 2.11 0.588 M -0.46 0.700 T -0.15 0.093 N 0.358 0.419 -0.929 0.443 T 0.000 0.000 T . . . 3.334 0.459 22.9 0.995 0.671 0.909 0.522 D c -0.001 0.190 1.000 0.425 0.732 0.924 0 5.6 0.849 4.369 0.590 0.887 0.390 1.000 0.715 0.993 0.574 19.672 0.959 . ENSG00000138380.13|ENSG00000138380.13|ENSG00000138380.13|ENSG00000138380.13|ENSG00000138380.13|ENSG00000163596.12|ENSG00000138380.13|ENSG00000163596.12|ENSG00000138380.13|ENSG00000138380.13|ENSG00000138380.13|ENSG00000138380.13|ENSG00000138380.13 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.4971 0.1946 0.4321 0.6469 0.2867 0.4617 0.5529 0.5321 0.6039 0.4271 0.2209 0.4665 0.6589 0.3032 0.4750 0.5372 0.5092 hom 1984.71 79 2 204154552 . C T 1984.71 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.73;MQ0=0;QD=25.12;VQSLOD=8.0427;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:79:99:2018,147,0 2 204304214 204304214 G A exonic RAPH1 synonymous SNV RAPH1:NM_213589:exon14:c.C3699T:p.P1233P 0.16 0.36 0.1 0.075 0.1 0.06 0.1126 0.3116 0.0768 0.0786 0.0946 0.1068 0.1015 0.0621 0.17 0.29 0.1 0.16 0.074 rs2465520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1081 0.3130 0.0852 0.1234 0.0773 0.0921 0.1070 0.1054 0.0602 0.1517 0.3053 0.0931 0.1093 0.0995 0.0870 0.0925 0.0745 het 561.25 58 2 204304214 . G A 561.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.825;DP=58;Dels=0.00;FS=2.203;HRun=0;HaplotypeScore=2.3479;MQ=58.03;MQ0=0;MQRankSum=-0.152;QD=9.68;ReadPosRankSum=-0.296;VQSLOD=5.2824;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,22:58:99:591,0,1010 2 204322298 204322298 T C exonic RAPH1 synonymous SNV RAPH1:NM_213589:exon8:c.A1113G:p.K371K,RAPH1:NM_001329728:exon10:c.A1269G:p.K423K,RAPH1:NM_203365:exon10:c.A1269G:p.K423K 0.6 0.73 0.52 0.41 0.59 0.68 0.5862 0.6967 0.5076 0.3827 0.4829 0.5993 0.5573 0.6681 0.63 0.69 0.6 0.64 0.65 rs2469953 COSM4419296;COSM4419295 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5780 0.6993 0.5050 0.6830 0.3802 0.4810 0.5984 0.5981 0.6671 0.5869 0.6985 0.5373 0.6967 0.3964 0.4900 0.5683 0.5472 hom 6825.74 239 2 204322298 . T C 6825.74 Mask AC=2;AF=1.00;AN=2;DP=239;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2130;MQ=58.90;MQ0=0;QD=28.56;VQSLOD=5.7449;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,239:239:99:6825,512,0 2 204732714 204732714 A G exonic CTLA4 nonsynonymous SNV CTLA4:NM_001037631:exon1:c.A49G:p.T17A,CTLA4:NM_005214:exon1:c.A49G:p.T17A 0.43 0.39 0.46 0.64 0.36 0.31 0.4112 0.3742 0.4661 0.6689 0.5218 0.3857 0.3885 0.3208 0.37 0.37 0.37 0.39 0.36 rs231775 COSM3736237 2(pancreas);1(skin);1(large_intestine) other|other|other|other|other|Benign Hashimoto_thyroiditis\x2c_susceptibility_to|Thyroid-associated_orbitopathy\x2c_susceptibility_to|Systemic_lupus_erythematosus\x2c_susceptibility_to|Diabetes_mellitus\x2c_insulin-dependent\x2c_susceptibility_to|Celiac_disease_3|not_specified RCV000018423.2|RCV000018424.2|RCV000018425.2|RCV000018426.2|RCV000018427.2|RCV000455037.1 MedGen:OMIM|MedGen C1857845:609755|CN169374 . . . . . . 0.181 0.219 T 0.015 0.158 B 0.006 0.112 B 0.072 0.023 N 1 0.090 P 1.1 0.281 L 1.73 0.264 T 0.28 0.305 N 0.071 0.081 -0.908 0.471 T 0.000 0.000 T . . . -1.474 0.017 0.003 0.458 0.036 0.042 0.095 N c -1.274 -1.363 0.996 0.341 0.487 0.133 0 -2.84 0.054 -0.309 0.081 0.131 0.216 0.000 0.063 0.060 0.171 4.360 0.106 . ENSG00000163599.10 Testis 0.4150 0.3742 0.4643 0.3024 0.6681 0.5283 0.3820 0.3833 0.3192 0.4250 0.3731 0.4282 0.3013 0.6571 0.5209 0.4100 0.4265 hom 3691.08 126 2 204732714 . A G 3691.08 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4303;MQ=59.00;MQ0=0;QD=29.29;VQSLOD=8.2632;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3691,277,0 2 205829991 205829991 C T exonic PARD3B synonymous SNV PARD3B:NM_001302769:exon3:c.C339T:p.A113A,PARD3B:NM_057177:exon3:c.C339T:p.A113A,PARD3B:NM_152526:exon3:c.C339T:p.A113A,PARD3B:NM_205863:exon3:c.C339T:p.A113A 0.8 0.96 0.75 0.77 0.62 0.85 0.6611 0.9032 0.7837 0.7673 0.5956 0.5600 0.6325 0.8117 0.66 0.88 0.57 0.77 0.66 rs236843 COSM1404698;COSM1404699;COSM1404700 1(bone);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6609 0.9086 0.7744 0.6084 0.7649 0.5980 0.5560 0.6142 0.8067 0.6709 0.8951 0.7196 0.56 0.7923 0.5948 0.5489 0.6010 hom 1522.98 48 2 205829991 . C T 1522.98 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.69;MQ0=0;QD=31.73;VQSLOD=9.3449;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1556,117,0 2 206364737 206364737 T C exonic PARD3B synonymous SNV PARD3B:NM_057177:exon20:c.T2955C:p.S985S,PARD3B:NM_152526:exon20:c.T2976C:p.S992S,PARD3B:NM_205863:exon20:c.T2859C:p.S953S,PARD3B:NM_001302769:exon21:c.T3162C:p.S1054S 0.45 0.36 0.57 0.49 0.41 0.48 0.4426 0.3599 0.6394 0.5013 0.5463 0.3955 0.4533 0.4714 0.38 0.37 0.38 0.43 0.37 rs10197347 COSM3757895;COSM3757894;COSM3757896 1(lung);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4524 0.3574 0.6313 0.2739 0.4932 0.5537 0.3975 0.4163 0.4699 0.4228 0.3632 0.5552 0.2881 0.4913 0.5604 0.4115 0.4509 het 2794.43 249 2 206364737 . T C 2794.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.938;DP=249;DS;Dels=0.00;FS=3.671;HRun=1;HaplotypeScore=4.6195;MQ=59.57;MQ0=0;MQRankSum=1.050;QD=11.22;ReadPosRankSum=0.632;VQSLOD=4.9594;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:134,113:249:99:2824,0,3796 2 206480393 206480393 C T exonic PARD3B synonymous SNV PARD3B:NM_057177:exon22:c.C3267T:p.D1089D,PARD3B:NM_152526:exon22:c.C3288T:p.D1096D,PARD3B:NM_205863:exon22:c.C3171T:p.D1057D,PARD3B:NM_001302769:exon23:c.C3474T:p.D1158D 0.035 0.0061 0.045 . 0.11 0.026 0.0745 0.0149 0.0393 0.0001 0.0697 0.1084 0.0590 0.0388 0.077 0.018 0.11 0.011 0.09 rs17682782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0737 0.0146 0.0414 0.1306 0.0002 0.0660 0.1088 0.0820 0.0402 0.0756 0.0189 0.0632 0.1633 0.0006 0.0625 0.1170 0.1041 het 1771.38 133 2 206480393 . C T 1771.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.186;DP=133;Dels=0.00;FS=8.071;HRun=0;HaplotypeScore=2.9836;MQ=58.70;MQ0=1;MQRankSum=2.369;QD=13.32;ReadPosRankSum=-0.484;VQSLOD=4.2614;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,71:133:99:1801,0,1364 2 206480486 206480486 T C exonic PARD3B synonymous SNV PARD3B:NM_057177:exon22:c.T3360C:p.P1120P,PARD3B:NM_152526:exon22:c.T3381C:p.P1127P,PARD3B:NM_205863:exon22:c.T3264C:p.P1088P,PARD3B:NM_001302769:exon23:c.T3567C:p.P1189P 0.0094 0.0015 0.013 . 0.025 0.011 0.0231 0.0052 0.0086 0 0.0319 0.0335 0.0191 0.0110 0.02 0.0054 0.027 . . rs56272619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0227 0.0045 0.0107 0.0171 5.809e-05 0.0337 0.0339 0.0237 0.0114 0.0265 0.0068 0.0179 0.0199 0.0006 0.0307 0.0400 0.0317 het 959.39 81 2 206480486 . T C 959.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.053;DP=81;Dels=0.00;FS=4.348;HRun=3;HaplotypeScore=1.3670;MQ=59.54;MQ0=0;MQRankSum=0.348;QD=11.84;ReadPosRankSum=-0.224;VQSLOD=6.1488;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,35:81:99:989,0,1292 2 206581033 206581033 G A exonic NRP2 nonsynonymous SNV NRP2:NM_003872:exon3:c.G368A:p.R123K,NRP2:NM_018534:exon3:c.G368A:p.R123K,NRP2:NM_201264:exon3:c.G368A:p.R123K,NRP2:NM_201266:exon3:c.G368A:p.R123K,NRP2:NM_201267:exon3:c.G368A:p.R123K,NRP2:NM_201279:exon3:c.G368A:p.R123K 0.96 0.87 0.99 1. 1. 1. 0.9895 0.8866 0.9965 1 0.9998 0.9993 0.9912 0.9998 0.96 0.89 1. 0.96 1. rs849541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9918 0.8850 0.9956 0.9999 0.9999 1.0000 0.9993 0.9954 0.9996 0.9664 0.8834 0.9928 1 1 1 0.9995 0.9898 hom 6885.65 205 2 206581033 . G A 6885.65 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1994;MQ=59.21;MQ0=0;QD=33.59;VQSLOD=6.3698;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:6885,536,0 2 206592695 206592695 T C exonic NRP2 synonymous SNV NRP2:NM_003872:exon7:c.T1071C:p.Y357Y,NRP2:NM_018534:exon7:c.T1071C:p.Y357Y,NRP2:NM_201264:exon7:c.T1071C:p.Y357Y,NRP2:NM_201266:exon7:c.T1071C:p.Y357Y,NRP2:NM_201267:exon7:c.T1071C:p.Y357Y,NRP2:NM_201279:exon7:c.T1071C:p.Y357Y 0.52 0.076 0.55 0.81 0.56 0.74 0.5702 0.1442 0.6362 0.8125 0.6020 0.5445 0.6011 0.7532 0.41 0.16 0.54 0.41 0.52 rs849526 COSM5829387;COSM5829386;COSM3757902;COSM3757900;COSM3757901 1(bone);18(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5806 0.1397 0.6186 0.6147 0.8132 0.6001 0.5418 0.5493 0.7492 0.4516 0.1489 0.6026 0.6126 0.8327 0.6014 0.5336 0.5470 hom 3082.26 92 2 206592695 . T C 3082.26 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=33.50;VQSLOD=9.2832;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3115,250,0 2 206608039 206608039 T C exonic NRP2 synonymous SNV NRP2:NM_003872:exon9:c.T1404C:p.V468V,NRP2:NM_018534:exon9:c.T1404C:p.V468V,NRP2:NM_201264:exon9:c.T1404C:p.V468V,NRP2:NM_201266:exon9:c.T1404C:p.V468V,NRP2:NM_201267:exon9:c.T1404C:p.V468V,NRP2:NM_201279:exon9:c.T1404C:p.V468V 0.96 0.9 0.98 1. 0.98 1. 0.9805 0.9141 0.9909 0.9994 0.9831 0.9824 0.9857 0.9959 0.96 0.91 0.98 0.98 0.81 rs849568 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9818 0.9152 0.9906 0.9943 0.9994 0.9841 0.9799 0.9836 0.9964 0.9637 0.9155 0.9797 0.9801 0.9988 0.9825 0.9809 0.9857 hom 6176.66 185 2 206608039 . T C 6176.66 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6504;MQ=59.12;MQ0=0;QD=33.39;VQSLOD=7.3586;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:6176,493,0 2 206882530 206882530 G C exonic INO80D synonymous SNV INO80D:NM_017759:exon8:c.C1416G:p.L472L 0.025 0.0038 0.02 0.031 0.024 0.052 0.0301 0.0069 0.0145 0.0397 0.0242 0.0319 0.0261 0.0458 0.025 0.0078 0.033 . . rs41272653 COSM3757906;COSM3757907 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0314 0.0071 0.0160 0.0359 0.0432 0.0275 0.0341 0.0270 0.0463 0.0276 0.0092 0.0167 0.0364 0.0382 0.0249 0.0383 0.0255 het 324.01 36 2 206882530 . G C 324.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.249;DP=36;Dels=0.00;FS=3.246;HRun=0;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;MQRankSum=-0.243;QD=9.00;ReadPosRankSum=0.892;VQSLOD=5.2673;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,14:36:99:354,0,586 2 206921451 206921451 G A exonic INO80D synonymous SNV INO80D:NM_017759:exon4:c.C435T:p.T145T 0.72 0.55 0.77 0.74 0.75 0.86 0.7663 0.5732 0.7654 0.7333 0.7509 0.7788 0.75 0.8540 0.72 0.58 0.78 0.75 . rs818009 COSM4415017;COSM4415018 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7653 0.5601 0.7624 0.7909 0.7278 0.7495 0.7775 0.7723 0.8490 0.7154 0.5609 0.7697 0.7433 0.7098 0.7566 0.7887 0.7739 hom 1192.06 39 2 206921451 . G A 1192.06 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.88;MQ0=0;QD=30.57;VQSLOD=9.4219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:93.30:1225,93,0 2 207169731 207169731 G A exonic ZDBF2 nonsynonymous SNV ZDBF2:NM_020923:exon5:c.G479A:p.R160K,ZDBF2:NM_001285549:exon7:c.G473A:p.R158K 0.41 0.48 0.51 0.2 0.43 0.42 0.4133 0.4727 0.3917 0.1794 0.3618 0.4480 0.3930 0.3964 0.46 0.48 0.45 0.46 . rs10932150 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.152 0.179 N 1 0.090 P -1.095 0.010 N 2.42 0.154 T 1.33 0.009 N 0.034 0.017 -0.912 0.466 T 0.000 0.000 T . . . -1.321 0.021 0.004 0.353 0.022 0.003 0.015 N c -1.611 -1.484 0.011 0.121 0.707 0.730 0 2.59 0.300 1.319 0.330 -0.113 0.115 0.130 0.231 0.031 0.148 7.758 0.279 . ENSG00000204186.3|ENSG00000204186.3|ENSG00000183671.8 Artery_Tibial|Colon_Transverse|Thyroid 0.4118 0.4753 0.3991 0.4045 0.1822 0.3685 0.4559 0.4269 0.3948 0.4224 0.4778 0.4199 0.3377 0.1644 0.3695 0.4319 0.4265 het 221.81 20 2 207169731 . G A 221.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.270;DP=20;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=-0.347;QD=11.09;ReadPosRankSum=0.347;VQSLOD=6.6446;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,8:20:99:252,0,312 2 207172627 207172627 A G exonic ZDBF2 synonymous SNV ZDBF2:NM_020923:exon5:c.A3375G:p.Q1125Q,ZDBF2:NM_001285549:exon7:c.A3369G:p.Q1123Q 0.46 0.33 0.61 0.36 0.56 0.53 0.5294 0.3702 0.5554 0.3288 0.5061 0.5817 0.4989 0.5108 0.53 0.4 0.6 0.48 . rs7582864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5333 0.3678 0.5579 0.5102 0.3304 0.5112 0.5931 0.5448 0.5076 0.5049 0.3841 0.5457 0.4801 0.3197 0.5126 0.5880 0.5614 het 326.34 26 2 207172627 . A G 326.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.003;DP=26;Dels=0.00;FS=6.064;HRun=0;HaplotypeScore=0.9992;MQ=59.11;MQ0=0;MQRankSum=-0.283;QD=12.55;ReadPosRankSum=-0.489;VQSLOD=5.5622;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,12:26:99:356,0,416 2 207174316 207174316 T C exonic ZDBF2 synonymous SNV ZDBF2:NM_020923:exon5:c.T5064C:p.S1688S,ZDBF2:NM_001285549:exon7:c.T5058C:p.S1686S 0.48 0.38 0.62 0.36 0.57 0.53 0.5394 0.4245 0.5629 0.3288 0.5051 0.5898 0.5067 0.5130 0.56 0.46 0.6 0.51 . rs3732084 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5424 0.4238 0.5653 0.5201 0.3308 0.5117 0.6010 0.5550 0.5101 0.5244 0.4381 0.5514 0.49 0.3199 0.5132 0.5952 0.5736 het 1363.09 90 2 207174316 . T C 1363.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.063;DP=90;Dels=0.00;FS=0.811;HRun=1;HaplotypeScore=0.7887;MQ=58.79;MQ0=0;MQRankSum=0.700;QD=15.15;ReadPosRankSum=-0.847;VQSLOD=6.1376;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,51:90:99:1393,0,988 2 207621759 207621759 A G exonic MDH1B synonymous SNV MDH1B:NM_001039845:exon4:c.T276C:p.Y92Y,MDH1B:NM_001282940:exon4:c.T276C:p.Y92Y 1. 1. 1. 1. 1. 1. 1.0000 0.9998 1 1 1 1 1 1 1. 1. 1. 1. 0.98 rs1990849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9998 1 1 1 1 1 1 1 0.9999 0.9995 1 1 1 1 1 1 hom 2222.87 75 2 207621759 . A G 2222.87 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.42;MQ0=0;QD=29.64;VQSLOD=8.1786;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2256,172,0 2 207820276 207820276 G A exonic CPO nonsynonymous SNV CPO:NM_173077:exon3:c.G255A:p.M85I 0.38 0.38 0.26 0.41 0.46 0.37 0.4222 0.3777 0.1898 0.4025 0.4281 0.4802 0.4229 0.3856 0.45 0.39 0.48 0.4 0.42 rs13420911 COSM5021349 1(bone) . . . . . . . . . . . 0.833 0.029 T 0.021 0.172 B 0.014 0.158 B 0.000 0.843 D 0.965 0.259 P -1.055 0.011 N 3.12 0.081 T -0.51 0.160 N 0.171 0.207 -0.961 0.390 T 0.000 0.000 T . . . 1.433 0.235 12.96 0.421 0.031 0.736 0.357 D c -0.566 -0.315 0.100 0.163 0.554 0.246 0 5.11 0.691 0.865 0.274 0.974 0.594 1.000 0.715 0.931 0.405 11.019 0.467 Peptidase M14\x2c carboxypeptidase A . . 0.4118 0.3781 0.2105 0.4614 0.4013 0.4266 0.4792 0.4131 0.3837 0.4313 0.3734 0.2794 0.4371 0.3970 0.4310 0.4751 0.4599 hom 2920.28 90 2 207820276 . G A 2920.28 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=32.45;VQSLOD=9.7372;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2953,241,0 2 207824384 207824384 T G exonic CPO nonsynonymous SNV CPO:NM_173077:exon5:c.T402G:p.S134R 0.43 0.55 0.28 0.41 0.46 0.4 0.4412 0.5200 0.2008 0.4037 0.4285 0.4836 0.44 0.4132 0.49 0.52 0.48 0.46 0.44 rs11903403 COSM4001483 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.528 0.071 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -0.41 0.029 N 2.93 0.098 T 1.1 0.012 N 0.054 0.036 -0.963 0.386 T 0.000 0.000 T . . . 0.225 0.116 4.944 0.336 0.020 0.029 0.077 N c -1.012 -0.878 0.000 0.048 0.638 0.428 0 1.12 0.196 0.129 0.155 0.087 0.193 0.579 0.273 0.155 0.206 2.624 0.046 Peptidase M14\x2c carboxypeptidase A . . 0.4279 0.5209 0.2212 0.4754 0.4026 0.4266 0.4820 0.4243 0.4108 0.4705 0.5073 0.2883 0.4433 0.3955 0.4315 0.4770 0.4684 hom 2950.54 89 2 207824384 . T G 2950.54 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9995;MQ=59.32;MQ0=0;QD=33.15;VQSLOD=9.9216;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2984,229,0 2 207825656 207825656 A T exonic CPO synonymous SNV CPO:NM_173077:exon6:c.A564T:p.A188A 0.38 0.37 0.26 0.41 0.46 0.39 0.4238 0.3668 0.1905 0.3996 0.4277 0.4806 0.4306 0.4046 0.44 0.38 0.48 0.4 0.42 rs13397039 COSM4001484 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4138 0.3687 0.2111 0.4617 0.3988 0.4262 0.4798 0.4141 0.4027 0.4272 0.3612 0.2787 0.4333 0.3883 0.4313 0.4750 0.4571 hom 5425.56 166 2 207825656 . A T 5425.56 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.897;DP=166;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=59.16;MQ0=0;MQRankSum=0.271;QD=32.68;ReadPosRankSum=-0.125;VQSLOD=9.0601;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,165:166:99:5388,387,0 2 207833983 207833983 A G exonic CPO synonymous SNV CPO:NM_173077:exon9:c.A948G:p.T316T 0.29 0.37 0.2 0.26 0.3 0.25 0.2961 0.3550 0.2227 0.2506 0.2817 0.3132 0.2907 0.2713 0.32 0.35 0.31 0.33 0.26 rs7582305 COSM4419255 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2887 0.3528 0.2259 0.3145 0.2499 0.2716 0.3100 0.2889 0.2740 0.3115 0.3538 0.2296 0.2947 0.2525 0.2831 0.3057 0.2963 het 1300.68 100 2 207833983 . A G 1300.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.096;DP=100;Dels=0.00;FS=4.133;HRun=0;HaplotypeScore=0.9996;MQ=60.00;MQ0=0;MQRankSum=-1.262;QD=13.01;ReadPosRankSum=2.593;VQSLOD=4.8532;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,49:100:99:1331,0,1477 2 207988613 207988613 C T exonic KLF7 synonymous SNV KLF7:NM_001270943:exon2:c.G519A:p.L173L,KLF7:NM_001270944:exon2:c.G534A:p.L178L,KLF7:NM_003709:exon2:c.G618A:p.L206L 0.96 0.84 0.99 1. 1. 1. 0.9882 0.8715 0.9930 0.9999 1 0.9999 0.9967 0.9998 0.96 0.88 1. 0.92 1. rs2700166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9909 0.8726 0.9929 0.9998 0.9999 1.0000 0.9999 0.9965 0.9998 0.9629 0.8701 0.9940 1 1 1 0.9997 0.9939 hom 5889.43 188 2 207988613 . C T 5889.43 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.695;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=58.93;MQ0=0;MQRankSum=-1.714;QD=31.33;ReadPosRankSum=-0.884;VQSLOD=8.9925;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,187:188:99:5889,460,0 2 208477852 208477852 G A exonic METTL21A nonsynonymous SNV METTL21A:NM_001127395:exon4:c.C575T:p.T192I,METTL21A:NM_001330130:exon4:c.C575T:p.T192I,METTL21A:NM_001330134:exon4:c.C575T:p.T192I,METTL21A:NM_145280:exon4:c.C575T:p.T192I,METTL21A:NM_001330137:exon5:c.C629T:p.T210I 0.9 0.86 0.88 1. 0.83 0.95 0.8598 0.8728 0.9235 0.9998 0.8635 0.8114 0.8568 0.9279 0.83 0.87 0.82 0.95 0.87 rs2551949 COSM4133406 1(thyroid) . . . . . . . . . . . 0.323 0.134 T 0.047 0.206 B 0.02 0.179 B 0.260 0.153 N 0.614 0.588 P 2.24 0.636 M 2.36 0.161 T -2.21 0.496 N 0.101 0.134 -0.995 0.313 T 0.000 0.000 T . . . 1.615 0.256 13.93 0.914 0.200 0.924 0.554 D c -0.208 -0.090 0.206 0.182 0.732 0.924 0 2.88 0.325 3.100 0.497 0.108 0.203 0.999 0.424 0.834 0.348 11.452 0.492 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000144401.10|ENSG00000144401.10|ENSG00000144401.10|ENSG00000144401.10 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic 0.8613 0.8704 0.9147 0.8251 0.9998 0.8614 0.8086 0.8505 0.9269 0.8431 0.8692 0.8831 0.8046 1 0.8657 0.8037 0.85 hom 7017.63 222 2 208477852 . G A 7017.63 Mask AC=2;AF=1.00;AN=2;DP=222;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9312;MQ=59.50;MQ0=0;QD=31.61;VQSLOD=8.3919;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,222:222:99:7017,545,0 2 208477956 208477956 C T exonic METTL21A synonymous SNV METTL21A:NM_001127395:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330130:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330134:exon4:c.G471A:p.Q157Q,METTL21A:NM_145280:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330137:exon5:c.G525A:p.Q175Q 0.9 0.86 0.88 1. 0.83 0.95 0.8597 0.8730 0.9235 0.9998 0.8635 0.8112 0.8568 0.9276 0.83 0.87 0.82 0.95 0.87 rs2709416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8616 0.8709 0.9149 0.8255 0.9998 0.8613 0.8086 0.8505 0.9272 0.8430 0.8691 0.8831 0.8046 1 0.8657 0.8036 0.85 hom 5453.01 172 2 208477956 . C T 5453.01 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=31.70;VQSLOD=9.7331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5452,424,0 2 208478055 208478055 A G exonic METTL21A synonymous SNV METTL21A:NM_001127395:exon4:c.T372C:p.T124T,METTL21A:NM_001330130:exon4:c.T372C:p.T124T,METTL21A:NM_001330134:exon4:c.T372C:p.T124T,METTL21A:NM_145280:exon4:c.T372C:p.T124T,METTL21A:NM_001330137:exon5:c.T426C:p.T142T 0.35 0.23 0.36 0.37 0.31 0.51 0.3522 0.2399 0.4708 0.3561 0.3592 0.3085 0.3532 0.5116 0.29 0.25 0.32 0.36 0.28 rs17520056 COSM149049 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3566 0.2472 0.4571 0.2344 0.3662 0.3524 0.3116 0.3175 0.5086 0.3094 0.2421 0.3971 0.2285 0.3668 0.3534 0.3266 0.3449 het 972.32 78 2 208478055 . A G 972.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.431;DP=78;Dels=0.00;FS=5.923;HRun=1;HaplotypeScore=1.9497;MQ=59.22;MQ0=0;MQRankSum=-1.091;QD=12.47;ReadPosRankSum=0.250;VQSLOD=4.9074;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,37:78:99:1002,0,1202 2 208591568 208591568 C A exonic CCNYL1 synonymous SNV CCNYL1:NM_001142300:exon3:c.C298A:p.R100R,CCNYL1:NM_001330218:exon3:c.C298A:p.R100R,CCNYL1:NM_152523:exon4:c.C88A:p.R30R . . . . . . . . . . . . . . . . . . . rs755335712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.239e-05 0 0 0 0 0 6.678e-05 0 het 811.12 95 2 208591568 . C A 811.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.714;DP=95;Dels=0.00;FS=1.711;HRun=0;HaplotypeScore=0.9973;MQ=57.21;MQ0=0;MQRankSum=0.422;QD=8.54;ReadPosRankSum=0.238;VQSLOD=2.7143;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,39:95:99:841,0,1353 2 208633413 208633413 T C exonic FZD5 synonymous SNV FZD5:NM_003468:exon2:c.A51G:p.L17L 0.99 0.97 1. 1. 1. 1. 0.9977 0.9729 0.9990 1 1 1.0000 0.9986 0.9999 0.99 0.97 1. 0.67 0.64 rs4675711 COSM3749629 8(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9748 0.9990 1 1 1 0.9999 0.9990 0.9999 0.9928 0.9747 1 1 1 1 0.9999 0.9980 hom 759.75 21 2 208633413 . T C 759.75 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;QD=36.18;VQSLOD=9.2915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:63.17:793,63,0 2 208811097 208811097 C T exonic PLEKHM3 synonymous SNV PLEKHM3:NM_001080475:exon4:c.G1686A:p.K562K 0.54 0.71 0.5 0.4 0.61 0.43 0.5626 0.7061 0.3645 0.3890 0.4953 0.6267 0.5978 0.4727 0.65 0.69 0.63 0.54 0.63 rs10932215 COSM3757919;COSM3757920 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5555 0.7063 0.3870 0.7125 0.3890 0.5007 0.6271 0.6059 0.4777 0.6098 0.7108 0.4700 0.6788 0.4088 0.5115 0.6061 0.5481 het 2171.18 194 2 208811097 . C T 2171.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.731;DP=194;Dels=0.00;FS=1.199;HRun=3;HaplotypeScore=5.9761;MQ=58.97;MQ0=0;MQRankSum=0.395;QD=11.19;ReadPosRankSum=0.882;VQSLOD=5.1989;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,86:194:99:2201,0,2874 2 208841964 208841964 A G exonic PLEKHM3 synonymous SNV PLEKHM3:NM_001080475:exon3:c.T957C:p.N319N 0.57 0.57 0.66 0.47 0.74 0.43 0.6571 0.5846 0.7296 0.4489 0.7189 0.7130 0.6711 0.5064 0.68 0.61 0.71 0.6 0.74 rs4441448 COSM4001486;COSM4001487 1(bone);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6658 0.5856 0.7333 0.7635 0.4432 0.7221 0.7109 0.7002 0.5157 0.6717 0.5899 0.7326 0.7715 0.4796 0.7230 0.7206 0.6996 het 1975.79 140 2 208841964 . A G 1975.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.026;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4219;MQ=59.67;MQ0=0;MQRankSum=1.165;QD=14.11;ReadPosRankSum=-0.684;VQSLOD=3.8498;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:64,76:140:99:2006,0,1739 2 208986637 208986637 T C exonic CRYGD synonymous SNV CRYGD:NM_006891:exon3:c.A285G:p.R95R 0.78 0.83 0.78 0.61 0.92 0.73 0.8500 0.8433 0.7556 0.5756 0.9223 0.9119 0.8535 0.7840 0.89 0.85 0.92 0.8 0.91 rs2305430 . . Benign|Benign not_specified|Cataract RCV000254068.1|RCV000380516.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000518:C1962983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8481 0.8431 0.7595 0.8559 0.5743 0.9225 0.9175 0.8691 0.7890 0.8830 0.8446 0.8091 0.8377 0.6043 0.9310 0.9284 0.8918 hom 6963.85 215 2 208986637 . T C 6963.85 Mask AC=2;AF=1.00;AN=2;DP=215;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4182;MQ=58.96;MQ0=0;QD=32.39;VQSLOD=6.9914;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,215:215:99:6963,539,0 2 209007559 209007559 T G exonic CRYGB nonsynonymous SNV CRYGB:NM_005210:exon3:c.A331C:p.I111L 0.64 0.62 0.54 0.6 0.73 0.71 0.6885 0.6614 0.5309 0.5404 0.7028 0.7306 0.6982 0.7172 0.72 0.68 0.74 0.66 0.67 rs796287 COSM3757921 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.08 0.335 T 0.0 0.026 B 0.0 0.013 B 0.031 0.252 N 1 0.090 P -1.525 0.005 N -0.95 0.754 T 0.12 0.056 N 0.019 0.004 -0.932 0.439 T 0.000 0.000 T . . . 2.713 0.387 20.9 0.943 0.240 0.009 0.035 N c -1.173 -1.107 0.830 0.246 0.616 0.392 0 0.468 0.159 1.018 0.294 0.136 0.221 0.009 0.180 0.994 0.587 9.465 0.378 Beta/gamma crystallin|Gamma-crystallin-related . . 0.6845 0.6639 0.5417 0.7258 0.5406 0.7086 0.7354 0.6842 0.7171 0.7064 0.6840 0.6184 0.72 0.5309 0.7172 0.7403 0.7071 het 3051.78 248 2 209007559 . T G 3051.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.321;DP=248;DS;Dels=0.00;FS=2.847;HRun=0;HaplotypeScore=6.4588;MQ=59.56;MQ0=0;MQRankSum=0.386;QD=12.31;ReadPosRankSum=1.171;VQSLOD=4.7807;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:141,107:248:99:3082,0,3602 2 209010558 209010558 A G exonic CRYGB synonymous SNV CRYGB:NM_005210:exon2:c.T192C:p.P64P 0.4 0.38 0.3 0.27 0.52 0.52 0.4817 0.4314 0.2736 0.2419 0.4903 0.5417 0.4967 0.5385 0.5 0.43 0.54 0.37 0.5 rs2854723 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4755 0.4259 0.2880 0.6178 0.2440 0.4852 0.5412 0.4947 0.5404 0.4807 0.4453 0.3445 0.5960 0.2441 0.4868 0.5300 0.4928 het 1277.95 110 2 209010558 . A G 1277.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.070;DP=110;Dels=0.00;FS=2.483;HRun=3;HaplotypeScore=3.6430;MQ=58.37;MQ0=0;MQRankSum=-0.137;QD=11.62;ReadPosRankSum=1.491;VQSLOD=4.5568;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,51:110:99:1308,0,1700 2 209036712 209036712 T C exonic C2orf80 nonsynonymous SNV C2orf80:NM_001099334:exon7:c.A454G:p.S152G 0.86 0.79 0.94 0.85 0.93 0.82 0.8895 0.8181 0.8952 0.8560 0.8800 0.9163 0.8967 0.8405 0.89 0.82 0.92 0.86 0.89 rs10804166 . . . . . . . . . . . . . 0.13 0.279 T 0.002 0.090 B 0.007 0.121 B 0.000 0.477 N 0.818 0.588 P 1.545 0.392 L 1.55 0.407 T -2.85 0.600 D 0.021 0.330 -1.045 0.159 T 0.000 0.000 T . . . 1.380 0.229 12.68 0.988 0.460 0.691 0.338 D c -0.644 -0.549 0.942 0.274 0.487 0.133 0 1.54 0.222 2.223 0.423 0.139 0.223 1.000 0.715 0.350 0.246 3.896 0.086 . . . 0.8910 0.8208 0.8978 0.8434 0.8558 0.8875 0.9227 0.9054 0.8385 0.8824 0.8194 0.8926 0.8667 0.8426 0.8856 0.9218 0.8908 hom 8332.72 250 2 209036712 . T C 8332.72 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7569;MQ=59.09;MQ0=0;QD=33.33;VQSLOD=9.3145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8332,650,0 2 209036778 209036778 A G exonic C2orf80 nonsynonymous SNV C2orf80:NM_001099334:exon7:c.T388C:p.C130R 0.98 0.94 1. 1. 1. 1. 0.9955 0.9497 0.9984 1 1 0.9998 0.9989 0.9993 0.98 0.95 1. 0.99 0.97 rs6435421 . . . . . . . . . . . . . 0.777 0.033 T 0.0 0.026 B 0.0 0.013 B 0.743 0.098 N 1 0.090 P -1.495 0.005 N 1.72 0.266 T 3.34 0.001 N 0.126 0.648 -0.984 0.341 T 0.000 0.000 T . . . -1.043 0.030 0.013 0.201 0.007 0.002 0.013 N c -0.740 -0.745 0.992 0.326 0.554 0.283 0 4.24 0.493 0.986 0.290 0.136 0.221 0.058 0.215 0.176 0.212 5.061 0.138 . . . 0.9963 0.9488 0.9979 1 1 1 0.9998 0.9976 0.9992 0.9856 0.9500 0.9976 1 1 1 0.9997 0.9969 hom 7071.58 214 2 209036778 . A G 7071.58 Mask AC=2;AF=1.00;AN=2;DP=214;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4826;MQ=59.54;MQ0=0;QD=33.04;VQSLOD=8.5863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:7071,560,0 2 209108317 209108317 C T exonic IDH1 nonsynonymous SNV IDH1:NM_001282386:exon6:c.G532A:p.V178I,IDH1:NM_001282387:exon6:c.G532A:p.V178I,IDH1:NM_005896:exon6:c.G532A:p.V178I 0.049 0.089 0.045 0.0069 0.048 0.044 0.0500 0.0788 0.0374 0.0072 0.0250 0.0557 0.0331 0.0512 0.062 0.081 0.053 0.043 0.033 rs34218846 COSM97131 1(haematopoietic_and_lymphoid_tissue);1(soft_tissue);8(thyroid);1(thymus) Benign not_specified RCV000121207.1 MedGen CN169374 . . . . . . 0.104 0.299 T 0.992 0.629 D 0.984 0.745 D 0.000 0.843 D 1 0.810 D 1.28 0.323 L -1.08 0.771 T -0.85 0.232 N 0.205 0.258 -0.586 0.654 T 0.083 0.325 T . . . 3.891 0.524 23.5 0.996 0.767 0.989 0.884 D c 0.734 0.742 1.000 0.747 0.707 0.730 0 5.52 0.821 7.685 0.833 0.892 0.403 1.000 0.715 0.998 0.697 19.797 0.965 Isopropylmalate dehydrogenase-like domain . . 0.0486 0.0786 0.0358 0.0866 0.0062 0.0250 0.0551 0.0595 0.0509 0.0554 0.0794 0.0310 0.0795 0.0099 0.0278 0.0545 0.0440 het 681.69 72 2 209108317 . C T 681.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.249;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.42;MQ0=0;MQRankSum=-0.470;QD=9.47;ReadPosRankSum=-0.667;VQSLOD=6.0103;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,31:72:99:712,0,1042 2 209113192 209113192 G A exonic IDH1 synonymous SNV IDH1:NM_001282386:exon4:c.C315T:p.G105G,IDH1:NM_001282387:exon4:c.C315T:p.G105G,IDH1:NM_005896:exon4:c.C315T:p.G105G 0.057 0.12 0.045 0.0069 0.048 0.045 0.0524 0.1039 0.0389 0.0072 0.0249 0.0558 0.0363 0.0514 0.071 0.11 0.053 0.054 0.049 rs11554137 COSM1741220 5(haematopoietic_and_lymphoid_tissue);1(soft_tissue) Benign not_specified RCV000454437.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0505 0.1045 0.0370 0.0865 0.0064 0.0250 0.0552 0.0607 0.0511 0.0632 0.1065 0.0311 0.0795 0.0105 0.0275 0.0546 0.0460 het 1294.28 105 2 209113192 . G A 1294.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.067;DP=105;Dels=0.00;FS=1.594;HRun=0;HaplotypeScore=3.4896;MQ=59.59;MQ0=0;MQRankSum=1.646;QD=12.33;ReadPosRankSum=1.729;VQSLOD=5.2895;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,50:105:99:1324,0,1486 2 209179939 209179939 A G exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon15:c.A1849G:p.M617V 0.028 0.065 0.014 . 0.031 0.014 0.0248 0.0544 0.0133 0.0001 0.0261 0.0249 0.0245 0.0259 0.036 0.052 0.029 0.043 0.0082 rs16840913 . . Benign Fleck_corneal_dystrophy RCV000295958.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 0.063 0.388 T 0.932 0.500 P 0.949 0.670 D 0.000 0.843 D 1.000 0.495 D 0.55 0.145 N -1.12 0.776 T -1.06 0.277 N 0.182 0.703 -0.680 0.614 T 0.120 0.419 T . . . 2.299 0.337 18.16 0.985 0.419 0.965 0.692 D c 0.421 0.479 1.000 0.747 0.731 0.878 0 4.49 0.540 9.246 0.945 1.199 0.960 1.000 0.715 1.000 0.888 11.725 0.508 TCP-1-like chaperonin intermediate domain ENSG00000115020.12 Skin_Not_Sun_Exposed_Suprapubic 0.0241 0.0550 0.0139 0.0154 0.0001 0.0262 0.0264 0.0237 0.0260 0.0316 0.0535 0.0167 0.0232 0 0.0246 0.0245 0.0368 het 1195.58 116 2 209179939 . A G 1195.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.255;DP=116;Dels=0.00;FS=5.610;HRun=1;HaplotypeScore=4.7199;MQ=58.51;MQ0=0;MQRankSum=0.384;QD=10.31;ReadPosRankSum=-0.647;VQSLOD=4.8883;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,48:116:99:1226,0,1796 2 209184980 209184980 G A exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon17:c.G2087A:p.S696N 0.99 0.97 1. 1. 1. 1. 0.9977 0.9741 0.9992 1 1 0.9999 1 1 0.99 0.98 1. 0.99 0.88 rs10932258 COSM4133415 1(thyroid) Benign Fleck_corneal_dystrophy RCV000365792.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.198 P 0.77 0.194 N -1.23 0.789 T 0.65 0.025 N 0.023 0.035 -0.941 0.425 T 0.000 0.000 T . . . 1.182 0.208 11.65 0.214 0.008 0.207 0.209 N c -0.388 -0.165 1.000 0.747 0.732 0.924 0 5.83 0.930 7.517 0.805 0.168 0.246 1.000 0.715 0.996 0.625 12.040 0.526 GroEL-like apical domain . . 0.9983 0.9758 0.9990 1 1 1 0.9999 0.9982 0.9999 0.9932 0.9766 0.9988 1 1 1 0.9999 0.9959 hom 2274.10 66 2 209184980 . G A 2274.10 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=34.46;VQSLOD=9.3331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2307,181,0 2 209184999 209184999 C T exonic PIKFYVE synonymous SNV PIKFYVE:NM_015040:exon17:c.C2106T:p.P702P 0.91 0.79 0.98 0.94 0.99 0.92 0.9598 0.7990 0.9843 0.9429 0.9965 0.9842 0.9801 0.9374 0.92 0.81 0.98 0.87 0.94 rs10932259 COSM4133416 1(thyroid) Benign Fleck_corneal_dystrophy RCV000396210.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9649 0.7979 0.9847 0.9964 0.9404 0.9967 0.9830 0.9744 0.9391 0.9312 0.7999 0.9809 1 0.9405 0.9957 0.9845 0.9725 hom 3128.98 98 2 209184999 . C T 3128.98 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=57.87;MQ0=0;QD=31.93;VQSLOD=7.8986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3162,241,0 2 209190330 209190330 T C exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.T2795C:p.L932S 0.91 0.79 0.98 0.94 0.99 0.92 0.9596 0.7995 0.9842 0.9430 0.9961 0.9840 0.9802 0.9373 0.92 0.81 0.98 0.87 0.99 rs2363468 . . Benign Fleck_corneal_dystrophy RCV000316508.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.178 0.172 N 1 0.090 P -0.92 0.013 N 1.72 0.266 T 1.49 0.009 N 0.03 0.012 -0.956 0.400 T 0.000 0.000 T . . . 0.703 0.161 8.844 0.472 0.038 0.185 0.201 N c -0.785 -0.531 0.646 0.221 0.707 0.730 0 5.19 0.713 0.880 0.276 0.069 0.176 0.113 0.228 0.947 0.422 6.811 0.228 . ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial 0.9647 0.7982 0.9846 0.9964 0.9405 0.9961 0.9828 0.9737 0.9392 0.9309 0.8001 0.9809 1 0.9400 0.9951 0.9841 0.9725 hom 4018.62 124 2 209190330 . T C 4018.62 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9814;MQ=59.46;MQ0=0;QD=32.41;VQSLOD=9.4845;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:4018,325,0 2 209190519 209190519 A T exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.A2984T:p.Q995L 0.91 0.79 0.98 0.94 0.99 0.92 0.9597 0.7993 0.9842 0.9426 0.9965 0.9841 0.9802 0.9374 0.92 0.81 0.98 0.87 0.99 rs893254 . . Benign Fleck_corneal_dystrophy RCV000386356.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 0.096 0.310 T 0.0 0.147 B 0.001 0.158 B 0.011 0.295 N 0.749 0.296 P 0.205 0.094 N 1.63 0.280 T -1.41 0.348 N 0.129 0.215 -1.006 0.281 T 0.000 0.000 T . . . 0.505 0.142 7.471 0.946 0.246 0.807 0.400 D c -0.659 -0.605 0.649 0.221 0.719 0.830 0 4.24 0.493 1.440 0.344 1.199 0.960 0.105 0.227 0.279 0.233 12.604 0.557 . ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial 0.9649 0.7980 0.9846 0.9964 0.9403 0.9967 0.9830 0.9744 0.9394 0.9305 0.7979 0.9809 1 0.9374 0.9957 0.9842 0.9724 hom 2530.90 78 2 209190519 . A T 2530.90 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=32.45;VQSLOD=8.7787;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2564,202,0 2 209190528 209190528 C G exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.C2993G:p.T998S 0.91 0.79 0.98 0.94 0.99 0.92 0.9601 0.8005 0.9846 0.9423 0.9965 0.9843 0.9802 0.9375 0.92 0.81 0.98 0.87 0.99 rs893253 . . Benign Fleck_corneal_dystrophy RCV000293929.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 0.744 0.037 T 0.0 0.197 B 0.001 0.139 B 0.029 0.017 N 1 0.090 P 0.14 0.088 N 1.68 0.272 T -0.1 0.105 N 0.015 0.002 -0.997 0.309 T 0.000 0.000 T . . . -2.337 0.004 0.001 0.291 0.015 0.085 0.143 N c -1.461 -1.442 0.101 0.164 0.719 0.830 0 -1.75 0.076 -0.019 0.124 -0.876 0.028 0.000 0.063 0.003 0.074 3.691 0.078 . ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial 0.9651 0.7994 0.9850 0.9965 0.9403 0.9967 0.9833 0.9746 0.9395 0.9311 0.7992 0.9809 1 0.9377 0.9957 0.9846 0.9745 hom 2207.27 64 2 209190528 . C G 2207.27 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;QD=34.49;VQSLOD=8.9688;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2240,178,0 2 209190632 209190632 T G exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.T3097G:p.S1033A 0.099 0.15 0.11 0.0089 0.13 0.085 0.1205 0.1423 0.0815 0.0081 0.1066 0.1394 0.1035 0.1235 0.14 0.14 0.14 0.11 0.098 rs999890 COSM3736239 1(skin) Benign Fleck_corneal_dystrophy RCV000346500.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 0.204 0.313 T 0.089 0.235 B 0.061 0.254 B 0.005 0.333 N 0.853 0.285 P 2.045 0.562 M 1.48 0.317 T -0.48 0.193 N 0.043 0.047 -1.027 0.213 T 0.001 0.002 T . . . -1.576 0.015 0.002 0.913 0.200 0.931 0.572 D c -0.827 -0.822 0.095 0.162 0.719 0.830 0 -0.478 0.114 2.811 0.474 0.141 0.225 0.997 0.399 0.889 0.374 2.562 0.044 . ENSG00000115020.12 Adrenal_Gland 0.1173 0.1406 0.0810 0.1271 0.0067 0.1011 0.1416 0.1280 0.1260 0.1279 0.1398 0.0883 0.1358 0.0117 0.1108 0.1387 0.1408 hom 2660.45 88 2 209190632 . T G 2660.45 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;QD=30.23;VQSLOD=9.2146;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2693,220,0 2 209190649 209190649 A G exonic PIKFYVE synonymous SNV PIKFYVE:NM_015040:exon20:c.A3114G:p.R1038R 0.099 0.15 0.11 0.0089 0.13 0.085 0.1205 0.1417 0.0816 0.0081 0.1067 0.1393 0.1035 0.1235 0.14 0.14 0.14 0.11 0.098 rs999891 COSM3757922 1(large_intestine) Benign Fleck_corneal_dystrophy RCV000385242.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1173 0.1405 0.0812 0.1270 0.0067 0.1011 0.1415 0.1281 0.1260 0.1278 0.1397 0.0883 0.1358 0.0117 0.1108 0.1386 0.1418 hom 2743.05 90 2 209190649 . A G 2743.05 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=58.81;MQ0=0;QD=30.48;VQSLOD=9.3026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2776,211,0 2 209191082 209191082 C A exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.C3547A:p.Q1183K 0.91 0.79 0.98 0.94 0.99 0.92 0.9596 0.7989 0.9842 0.9430 0.9965 0.9841 0.9802 0.9373 0.92 0.81 0.98 0.87 0.99 rs1529979 . . Benign Fleck_corneal_dystrophy RCV000339815.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.443 N 1 0.090 P -0.805 0.016 N 1.7 0.269 T 0.17 0.051 N 0.03 0.011 -0.962 0.389 T 0.000 0.000 T . . . 0.084 0.102 3.433 0.164 0.004 0.129 0.173 N c -0.722 -0.444 0.999 0.397 0.707 0.730 0 4.65 0.575 4.402 0.592 0.165 0.245 0.996 0.391 0.647 0.298 13.087 0.584 . ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial 0.9648 0.7978 0.9847 0.9965 0.9405 0.9967 0.9830 0.9745 0.9393 0.9310 0.7998 0.9809 1 0.9396 0.9957 0.9843 0.9725 hom 4108.33 135 2 209191082 . C A 4108.33 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7552;MQ=59.55;MQ0=0;QD=30.43;VQSLOD=8.5977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:135:99:4108,313,0 2 209191099 209191099 T C exonic PIKFYVE synonymous SNV PIKFYVE:NM_015040:exon20:c.T3564C:p.N1188N 1. 0.99 1. 1. 1. 1. 0.9985 0.9837 0.9995 1 0.9998 0.9999 0.9989 1 0.99 0.98 1. 1. 0.98 rs1529978 . . Benign Fleck_corneal_dystrophy RCV000395304.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9842 0.9995 1 1 0.9999 0.9999 0.9985 0.9999 0.9956 0.9851 1 1 1 1 0.9999 0.9969 hom 3802.78 130 2 209191099 . T C 3802.78 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=29.25;VQSLOD=7.9986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:3802,301,0 2 209214770 209214770 A G exonic PIKFYVE synonymous SNV PIKFYVE:NM_015040:exon36:c.A5397G:p.T1799T 0.91 0.79 0.98 0.94 0.99 0.92 0.9596 0.7980 0.9843 0.9433 0.9965 0.9841 0.9790 0.9375 0.92 0.81 0.98 0.87 0.99 rs2118297 . . Benign Fleck_corneal_dystrophy RCV000379957.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9648 0.7969 0.9846 0.9964 0.9407 0.9967 0.9830 0.9742 0.9393 0.9305 0.7982 0.9808 1 0.9394 0.9957 0.9844 0.9725 hom 4453.03 159 2 209214770 . A G 4453.03 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9463;MQ=58.40;MQ0=0;QD=28.01;VQSLOD=8.0164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4452,346,0 2 209215571 209215571 T C exonic PIKFYVE synonymous SNV PIKFYVE:NM_015040:exon37:c.T5511C:p.I1837I 0.028 0.064 0.014 . 0.031 0.014 0.0254 0.0546 0.0153 0.0001 0.0265 0.0258 0.0264 0.0256 0.037 0.052 0.029 0.043 0.0082 rs13020468 . . Benign Fleck_corneal_dystrophy RCV000283380.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0249 0.0552 0.0157 0.0155 0.0001 0.0266 0.0274 0.0252 0.0261 0.0320 0.0540 0.0191 0.0232 0 0.0249 0.0250 0.0367 het 1765.59 155 2 209215571 . T C 1765.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.669;DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8927;MQ=59.40;MQ0=0;MQRankSum=-0.768;QD=11.39;ReadPosRankSum=0.728;VQSLOD=5.9476;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,70:155:99:1796,0,2184 2 209215586 209215586 A G exonic PIKFYVE synonymous SNV PIKFYVE:NM_015040:exon37:c.A5526G:p.E1842E 0.91 0.79 0.98 0.94 0.99 0.92 0.9596 0.7983 0.9843 0.9435 0.9965 0.9841 0.9791 0.9374 0.92 0.81 0.98 0.85 0.99 rs994697 . . Benign Fleck_corneal_dystrophy RCV000340728.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9649 0.7971 0.9846 0.9964 0.9407 0.9967 0.9831 0.9743 0.9393 0.9306 0.7982 0.9809 1 0.9402 0.9957 0.9843 0.9725 hom 4329.53 137 2 209215586 . A G 4329.53 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=31.60;VQSLOD=9.4178;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4329,331,0 2 209353800 209353800 A G exonic PTH2R synonymous SNV PTH2R:NM_001309516:exon11:c.A807G:p.V269V,PTH2R:NM_005048:exon11:c.A1140G:p.V380V 0.13 0.35 0.086 0.0069 0.064 0.05 0.0841 0.3323 0.0497 0.0074 0.0469 0.0710 0.0606 0.0609 0.16 0.33 0.071 0.12 0.049 rs16841294 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0777 0.3352 0.0504 0.0942 0.0063 0.0466 0.0707 0.0780 0.0625 0.1396 0.3354 0.0513 0.0861 0.0086 0.0475 0.0713 0.0816 hom 3221.60 105 2 209353800 . A G 3221.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.566;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.8669;MQ=59.16;MQ0=0;MQRankSum=1.632;QD=30.68;ReadPosRankSum=1.699;VQSLOD=5.3978;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,104:105:99:3255,230,0 2 209358027 209358027 C T exonic PTH2R synonymous SNV PTH2R:NM_001309516:exon13:c.C963T:p.N321N,PTH2R:NM_005048:exon13:c.C1296T:p.N432N 0.74 0.86 0.81 0.54 0.78 0.7 0.7786 0.8637 0.8549 0.5201 0.7952 0.7931 0.7468 0.7193 0.81 0.86 0.78 0.77 0.7 rs3820900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7711 0.8602 0.8416 0.7457 0.5129 0.7964 0.7892 0.7765 0.7114 0.7906 0.8485 0.8282 0.7649 0.4826 0.8023 0.7857 0.7888 hom 3405.02 111 2 209358027 . C T 3405.02 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.44;MQ0=0;QD=30.68;VQSLOD=9.2858;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3404,280,0 2 211060050 211060050 T G exonic ACADL nonsynonymous SNV ACADL:NM_001608:exon9:c.A997C:p.K333Q 0.21 0.089 0.22 0.19 0.31 0.29 0.3011 0.1421 0.2254 0.2082 0.3515 0.3427 0.3326 0.3125 0.28 0.15 0.34 0.17 0.3 rs2286963 COSM4133423 1(pancreas);1(thyroid) Uncertain significance|Benign not_provided|Very_long_chain_acyl-CoA_dehydrogenase_deficiency RCV000115027.2|RCV000328841.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN221809|C0342784:201475:ORPHA26793:237996001:237997005 Metabolite levels . -13.80 20037589 rs2286963 3E-60 0.051 0.393 T 0.978 0.568 D 0.841 0.584 P 0.000 0.843 D 0.000 0.588 P 1.965 0.534 M -3.95 0.962 D -2.95 0.615 D 0.583 0.613 -1.577 0.000 T 0.000 0.000 T . . . 5.236 0.707 25.6 0.991 0.514 0.958 0.661 D c 0.597 0.608 1.000 0.747 0.487 0.133 0 5.77 0.910 7.114 0.766 1.057 0.759 1.000 0.715 0.998 0.697 16.148 0.813 Acyl-CoA dehydrogenase/oxidase C-terminal . . 0.3015 0.1391 0.2270 0.2847 0.2029 0.3589 0.3482 0.3041 0.3133 0.2831 0.1442 0.2434 0.2682 0.2027 0.3515 0.3548 0.3517 het 1327.66 106 2 211060050 . T G 1327.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.241;DP=106;Dels=0.00;FS=1.581;HRun=0;HaplotypeScore=1.6624;MQ=59.17;MQ0=0;MQRankSum=0.862;QD=12.53;ReadPosRankSum=1.721;VQSLOD=6.3833;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,51:106:99:1358,0,1362 2 211421452 211421452 - TCT exonic CPS1 nonframeshift insertion CPS1:NM_001122633:exon2:c.13_14insTCT:p.I5_K6insF 0.48 0.6 0.51 0.35 0.42 0.49 0.4350 0.5875 0.5215 0.3653 0.4210 0.4019 0.4194 0.4558 0.46 0.58 0.4 . . rs61509952 COSM4603079 14(upper_aerodigestive_tract);1(large_intestine);1(central_nervous_system) Benign|Benign not_specified|Congenital_hyperammonemia\x2c_type_I RCV000185816.2|RCV000377067.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0751753:237300:62522004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4372 0.5838 0.5213 0.4450 0.3773 0.4243 0.3969 0.4475 0.4572 0.4418 0.5763 0.5251 0.3940 0.3760 0.4139 0.3741 0.4302 het 833.52 57 2 211421452 . A ATCT 833.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.999;DP=57;FS=2.922;HRun=0;HaplotypeScore=180.0641;MQ=57.99;MQ0=0;MQRankSum=-0.973;QD=14.62;ReadPosRankSum=0.898;set=variant2 GT:AD:DP:GQ:PL 0/1:42,15:57:99:873,0,1784 2 211456637 211456637 A G exonic CPS1 nonsynonymous SNV CPS1:NM_001875:exon10:c.A1030G:p.T344A,CPS1:NM_001122633:exon11:c.A1048G:p.T350A . . . . . . 0.5697 0.6106 0.4533 0.5466 0.6286 0.5724 0.5820 0.6009 0.59 0.64 0.57 . 0.58 rs1047883 COSM4133424;COSM4133425 1(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Benign\x2cBenign|Likely benign not_specified|Congenital_hyperammonemia\x2c_type_I\x2cnot_specified|Congenital_hyperammonemia\x2c_type_I RCV000116829.5|RCV000364698.1\x2cRCV000275942.2|RCV000396067.1 MedGen|MedGen:OMIM:SNOMED_CT\x2cMedGen|MedGen:OMIM:SNOMED_CT CN169374|C0751753:237300:62522004\x2cCN169374|C0751753:237300:62522004 . . . . . . 0.067 0.365 T 0.001 0.067 B 0.006 0.112 B 0.001 0.415 N 0.998 0.222 P 1.495 0.376 L -2.59 0.898 D -2.88 0.605 D 0.076 0.067 -0.903 0.477 T 0.000 0.000 T . . . 0.154 0.109 4.189 0.924 0.213 0.460 0.274 N c -0.856 -0.842 0.003 0.101 0.615 0.372 0 -0.92 0.099 0.266 0.182 -1.779 0.007 0.778 0.292 0.417 0.257 12.858 0.571 Class I glutamine amidotransferase-like|Glutamine amidotransferase ENSG00000021826.10|ENSG00000021826.10|ENSG00000021826.10|ENSG00000021826.10|ENSG00000021826.10|ENSG00000021826.10 Adipose_Subcutaneous|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Lung|Skin_Sun_Exposed_Lower_leg 0.5675 0.6128 0.4705 0.6162 0.5476 0.6328 0.5668 0.5741 0.6004 0.5769 0.6195 0.4952 0.5638 0.5581 0.6195 0.5478 0.5938 het 574.02 52 2 211456637 . A G 574.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.246;DP=52;Dels=0.00;FS=1.182;HRun=0;HaplotypeScore=0.9995;MQ=57.09;MQ0=0;MQRankSum=0.234;QD=11.04;ReadPosRankSum=0.214;VQSLOD=4.4578;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,23:52:99:604,0,625 2 211456639 211456639 C T exonic CPS1 synonymous SNV CPS1:NM_001875:exon10:c.C1032T:p.T344T,CPS1:NM_001122633:exon11:c.C1050T:p.T350T 0.59 0.67 0.49 0.56 0.56 0.62 0.5736 0.6579 0.4541 0.5466 0.6276 0.5721 0.5820 0.6009 0.6 0.66 0.57 . 0.56 rs2229589 COSM5021350;COSM5021351 1(bone);1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Congenital_hyperammonemia\x2c_type_I RCV000116830.5|RCV000302372.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0751753:237300:62522004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5709 0.6638 0.4725 0.6162 0.5477 0.6320 0.5667 0.5753 0.6005 0.5896 0.6634 0.5024 0.5638 0.5581 0.6195 0.5481 0.5938 het 512.48 52 2 211456639 . C T 512.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.918;DP=52;Dels=0.00;FS=1.108;HRun=0;HaplotypeScore=0.9995;MQ=57.46;MQ0=0;MQRankSum=0.157;QD=9.86;ReadPosRankSum=0.861;VQSLOD=4.4787;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:542,0,824 2 211481257 211481257 C G exonic CPS1 synonymous SNV CPS1:NM_001122634:exon11:c.C1326G:p.G442G,CPS1:NM_001875:exon21:c.C2679G:p.G893G,CPS1:NM_001122633:exon22:c.C2697G:p.G899G 0.65 0.91 0.49 0.52 0.55 0.64 0.5861 0.8637 0.4588 0.4966 0.5725 0.5673 0.5728 0.6284 0.66 0.86 0.56 0.73 0.59 rs2287599 COSM5021353;COSM5021352 1(bone) other|Benign not_specified|Congenital_hyperammonemia\x2c_type_I RCV000116831.4|RCV000347604.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0751753:237300:62522004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5772 0.8681 0.4765 0.6228 0.4976 0.5719 0.5627 0.5764 0.6282 0.6316 0.8648 0.5155 0.5767 0.5 0.5673 0.5358 0.5680 hom 4080.06 129 2 211481257 . C G 4080.06 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4671;MQ=58.95;MQ0=0;QD=31.63;VQSLOD=8.4679;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:129:99:4080,313,0 2 212251864 212251864 T C exonic ERBB4 synonymous SNV ERBB4:NM_001042599:exon26:c.A3147G:p.V1049V,ERBB4:NM_005235:exon27:c.A3195G:p.V1065V 0.22 0.076 0.3 0.29 0.3 0.22 0.2954 0.0916 0.2589 0.3081 0.3592 0.3347 0.3046 0.2572 0.25 0.1 0.33 0.17 0.32 rs3748962 COSM3757923;COSM3757924 1(bone);1(haematopoietic_and_lymphoid_tissue);1(liver);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3004 0.0900 0.2599 0.3272 0.3112 0.3519 0.3380 0.2970 0.2627 0.2698 0.0988 0.2530 0.3841 0.3377 0.3472 0.3407 0.3010 het 2785.09 187 2 212251864 . T C 2785.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.782;DP=187;DS;Dels=0.00;FS=6.987;HRun=0;HaplotypeScore=4.8483;MQ=59.32;MQ0=0;MQRankSum=0.185;QD=14.89;ReadPosRankSum=0.941;VQSLOD=4.7951;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,99:187:99:2815,0,2165 2 214727221 214727221 A C exonic SPAG16 nonsynonymous SNV SPAG16:NM_024532:exon11:c.A1083C:p.Q361H 0.38 0.2 0.4 0.5 0.37 0.51 0.3904 0.2254 0.4316 0.4418 0.4011 0.3811 0.3425 0.4750 0.33 0.23 0.38 0.25 0.36 rs2042791 COSM149057 1(breast);1(stomach);2(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.008 0.311 N 1.000 0.182 P -1.83 0.003 N 0.37 0.577 T 6.67 0.000 N 0.185 0.226 -0.907 0.472 T 0.000 0.000 T . . . -0.743 0.043 0.058 0.099 0.001 0.019 0.058 N c -1.427 -1.264 0.000 0.042 0.554 0.246 0 -1.4 0.085 -0.665 0.053 -1.454 0.011 0.374 0.257 0.008 0.104 7.967 0.291 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000144451.14 Testis 0.3909 0.2232 0.4317 0.3090 0.4319 0.3961 0.3805 0.3712 0.4706 0.3420 0.2275 0.3935 0.3067 0.4176 0.4129 0.3796 0.3778 hom 5639.44 177 2 214727221 . A C 5639.44 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.6585;MQ=58.33;MQ0=0;QD=31.86;VQSLOD=7.1718;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5639,439,0 2 215632255 215632255 C T exonic BARD1 nonsynonymous SNV BARD1:NM_001282543:exon5:c.G1462A:p.V488M,BARD1:NM_000465:exon6:c.G1519A:p.V507M 0.37 0.36 0.31 0.34 0.4 0.41 0.3783 0.3713 0.2845 0.3685 0.4732 0.3802 0.3852 0.4078 0.28 0.29 0.28 . 0.41 rs2070094 COSM3757930;COSM3757929 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Likely benign Hereditary_cancer-predisposing_syndrome|not_specified|Breast_cancer RCV000128872.3|RCV000250250.1|RCV000336172.1 MedGen:SNOMED_CT|MedGen|MedGen C0027672:699346009|CN169374|CN221572 . . . . . . 0.269 0.161 T 0.001 0.215 B 0.005 0.176 B 0.246 0.036 N 1 0.090 P 1.23 0.308 L -0.17 0.656 T -1.27 0.320 N 0.014 0.003 -1.097 0.045 T 0.000 0.000 T . . . 0.209 0.114 4.771 0.658 0.077 0.017 0.054 N c -1.766 -1.903 1.000 0.517 0.732 0.924 0 -11.3 0.001 -5.220 0.002 -1.852 0.006 0.000 0.063 0.313 0.239 2.061 0.033 Ankyrin repeat-containing domain ENSG00000138376.6|ENSG00000229267.2|ENSG00000229267.2|ENSG00000138376.6|ENSG00000138376.6|ENSG00000138376.6 Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Nerve_Tibial|Thyroid 0.3748 0.3734 0.2944 0.4152 0.3679 0.4672 0.3711 0.3575 0.4038 0.3845 0.3705 0.3103 0.4238 0.3806 0.4676 0.3741 0.4286 het 1216.60 108 2 215632255 . C T 1216.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.852;DP=108;Dels=0.00;FS=1.549;HRun=0;HaplotypeScore=0.9983;MQ=57.86;MQ0=0;MQRankSum=2.321;QD=11.26;ReadPosRankSum=1.257;VQSLOD=4.1876;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,52:108:99:1247,0,1356 2 215632256 215632256 A G exonic BARD1 synonymous SNV BARD1:NM_001282543:exon5:c.T1461C:p.H487H,BARD1:NM_000465:exon6:c.T1518C:p.H506H 0.77 0.55 0.76 0.95 0.82 0.84 0.8134 0.5989 0.8250 0.9539 0.8980 0.8113 0.8190 0.8412 0.71 0.58 0.78 0.32 0.81 rs2070093 . . Benign|Benign|Likely benign Hereditary_cancer-predisposing_syndrome|not_specified|Breast_cancer RCV000162380.1|RCV000245092.1|RCV000399697.1 MedGen:SNOMED_CT|MedGen|MedGen C0027672:699346009|CN169374|CN221572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8177 0.5952 0.8163 0.8259 0.9529 0.8931 0.8063 0.7955 0.8421 0.7658 0.6055 0.7883 0.7848 0.9543 0.8947 0.8028 0.8286 het 1237.55 107 2 215632256 . A G 1237.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.282;DP=107;Dels=0.00;FS=0.727;HRun=0;HaplotypeScore=0.9983;MQ=57.84;MQ0=0;MQRankSum=1.711;QD=11.57;ReadPosRankSum=0.994;VQSLOD=4.6147;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,52:107:99:1268,0,1329 2 215645503 215645523 TGGTGAAGAACATTCAGGCAA - exonic BARD1 nonframeshift deletion BARD1:NM_001282543:exon3:c.1018_1038del:p.L340_P346del,BARD1:NM_000465:exon4:c.1075_1095del:p.L359_P365del . . . . . . 0.0293 0.0418 0.0350 0.0431 0.0033 0.0166 0.0341 0.0717 . . . . . rs587781282 . . Benign|Benign Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast RCV000128959.3|RCV000197321.2 MedGen:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT C0027672:699346009|C0346153:114480:ORPHA227535:254843006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0287 0.0432 0.0338 0.0116 0.0443 0.0034 0.0178 0.0334 0.0699 0.0238 0.0372 0.0383 0.0132 0.0433 0.0031 0.0179 0.0266 het 2345.03 78 2 215645502 . GTGGTGAAGAACATTCAGGCAA G 2345.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.100;DP=78;FS=1.088;HRun=0;HaplotypeScore=1330.3642;MQ=53.18;MQ0=0;MQRankSum=-4.678;QD=30.06;ReadPosRankSum=1.892;set=variant2 GT:AD:DP:GQ:PL 0/1:61,17:78:99:2384,0,12410 2 215674224 215674224 G A exonic BARD1 nonsynonymous SNV BARD1:NM_000465:exon1:c.C70T:p.P24S,BARD1:NM_001282543:exon1:c.C70T:p.P24S,BARD1:NM_001282545:exon1:c.C70T:p.P24S,BARD1:NM_001282548:exon1:c.C70T:p.P24S,BARD1:NM_001282549:exon1:c.C70T:p.P24S 0.33 0.19 0.4 0.33 0.39 0.4 0.4377 0.2830 0.4848 0.4161 0.4866 0.4443 0.4283 0.4407 0.3 0.22 0.35 0.22 0.2 rs1048108 COSM1482743;COSM442275 1(thyroid);1(large_intestine) Benign|Benign|Likely benign Hereditary_cancer-predisposing_syndrome|not_specified|Breast_cancer RCV000162363.2|RCV000245618.1|RCV000372881.1 MedGen:SNOMED_CT|MedGen|MedGen C0027672:699346009|CN169374|CN221572 . . . . . . 0.184 0.912 T 0.002 0.090 B 0.005 0.104 B 0.000 0.447 D 0.608 0.588 P 1.195 0.303 L -0.72 0.849 T -1.19 0.303 N 0.109 0.117 -1.043 0.165 T 0.000 0.000 T . . . 1.242 0.214 11.97 0.997 0.825 0.263 0.227 N c -0.507 -0.404 1.000 0.747 0.442 0.072 0 3.1 0.346 0.990 0.290 0.880 0.385 0.726 0.286 0.116 0.195 5.315 0.151 . ENSG00000138376.6|ENSG00000138376.6|ENSG00000229267.2|ENSG00000229267.2|ENSG00000138376.6|ENSG00000138376.6|ENSG00000138376.6|ENSG00000138376.6|ENSG00000138376.6|ENSG00000138376.6 Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.3842 0.2181 0.4331 0.4241 0.3594 0.4128 0.3776 0.3649 0.4095 0.3408 0.2121 0.4141 0.41 0.3779 0.4177 0.3819 0.4378 het 227.87 19 2 215674224 . G A 227.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.755;DP=19;Dels=0.00;FS=6.767;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.286;QD=11.99;ReadPosRankSum=0.367;VQSLOD=4.5272;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:258,0,259 2 215802308 215802308 A G exonic ABCA12 synonymous SNV ABCA12:NM_015657:exon43:c.T6514C:p.L2172L,ABCA12:NM_173076:exon51:c.T7468C:p.L2490L 0.0016 . 0.0029 . 0.003 0.0031 0.0016 0.0003 0.0018 0.0002 0 0.0019 0.0033 0.0019 0.0016 0.0002 0.0023 . . rs149561952 . . Uncertain significance Congenital_ichthyosiform_erythroderma RCV000289530.1 Human_Phenotype_Ontology:MedGen HP:0007431:C0079583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0001 0.0016 0.0136 0.0001 0 0.0012 0.0035 0.0019 0.0011 0.0003 0.0024 0.0066 0.0006 0.0003 0.0015 0.0010 het 1096.90 83 2 215802308 . A G 1096.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.898;DP=83;Dels=0.00;FS=1.828;HRun=1;HaplotypeScore=0.9958;MQ=58.64;MQ0=0;MQRankSum=-0.287;QD=13.22;ReadPosRankSum=-0.169;VQSLOD=4.5210;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,43:83:99:1127,0,959 2 215820013 215820013 G A exonic ABCA12 synonymous SNV ABCA12:NM_015657:exon35:c.C5352T:p.Y1784Y,ABCA12:NM_173076:exon43:c.C6306T:p.Y2102Y 0.35 0.3 0.39 0.23 0.4 0.46 0.4051 0.3127 0.3855 0.2320 0.4269 0.4250 0.4196 0.4772 0.38 0.32 0.42 0.4 0.45 rs10498027 COSM4783671;COSM3757935 1(large_intestine) Benign|Benign\x2cUncertain significance not_specified|Congenital_ichthyosiform_erythroderma\x2cCongenital_ichthyosiform_erythroderma RCV000254526.1|RCV000300175.1\x2cRCV000357340.1 MedGen|Human_Phenotype_Ontology:MedGen\x2cHuman_Phenotype_Ontology:MedGen CN169374|HP:0007431:C0079583\x2cHP:0007431:C0079583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4065 0.3084 0.3983 0.5131 0.2359 0.4212 0.4172 0.4108 0.4751 0.3822 0.3111 0.3911 0.5199 0.2361 0.4210 0.4222 0.4562 het 866.12 97 2 215820013 . G A 866.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.917;DP=97;Dels=0.00;FS=1.690;HRun=0;HaplotypeScore=5.4455;MQ=59.62;MQ0=0;MQRankSum=-0.026;QD=8.93;ReadPosRankSum=1.810;VQSLOD=4.3708;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,40:97:99:896,0,1407 2 215865575 215865575 T C exonic ABCA12 synonymous SNV ABCA12:NM_015657:exon14:c.A2079G:p.P693P,ABCA12:NM_173076:exon22:c.A3033G:p.P1011P 0.2 0.017 0.19 0.34 0.28 0.2 0.2331 0.0434 0.1565 0.3703 0.3523 0.2589 0.2577 0.1811 0.19 0.05 0.25 0.21 0.23 rs10498030 COSM4415427;COSM4415426 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Congenital_ichthyosiform_erythroderma RCV000253107.1|RCV000315754.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0007431:C0079583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2360 0.0390 0.1640 0.2011 0.3755 0.3477 0.2595 0.2381 0.1789 0.2189 0.0473 0.1962 0.2053 0.3773 0.3392 0.2729 0.2556 het 1871.31 133 2 215865575 . T C 1871.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.190;DP=133;Dels=0.00;FS=5.241;HRun=0;HaplotypeScore=1.9164;MQ=58.91;MQ0=0;MQRankSum=1.276;QD=14.07;ReadPosRankSum=1.551;VQSLOD=5.2708;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,72:133:99:1901,0,1586 2 215876166 215876166 A T exonic ABCA12 nonsynonymous SNV ABCA12:NM_015657:exon9:c.T1375A:p.S459T,ABCA12:NM_173076:exon17:c.T2329A:p.S777T 1. 0.99 1. 1. 1. 1. 0.9994 0.9934 0.9997 1 1 1.0000 1 1 1. 0.99 1. 1. 0.9 rs7560008 . . Benign|Benign not_specified|Congenital_ichthyosiform_erythroderma RCV000248760.1|RCV000319091.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0007431:C0079583 . . . . . . 0.403 0.151 T 0.0 0.026 B 0.001 0.121 B 0.975 0.081 N 1 0.090 P 1.005 0.253 L 2.75 0.116 T -0.67 0.193 N 0.022 0.005 -1.000 0.300 T 0.000 0.000 T . . . -0.677 0.046 0.082 0.128 0.002 0.004 0.020 N c -1.411 -1.440 0.000 0.042 0.554 0.283 0 -2.88 0.053 -1.351 0.027 -0.221 0.097 0.022 0.197 0.004 0.083 4.455 0.110 . . . 0.9995 0.9932 0.9996 1 1 1 1.0000 0.9998 1.0000 0.9980 0.9932 0.9988 1 1 1 0.9999 1 hom 1072.77 38 2 215876166 . A T 1072.77 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=28.23;VQSLOD=7.3983;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,37:38:93.23:1106,93,0 2 216235089 216235089 C T exonic FN1 nonsynonymous SNV FN1:NM_212474:exon39:c.G5878A:p.V1960I,FN1:NM_212476:exon39:c.G6238A:p.V2080I,FN1:NM_001306130:exon40:c.G6151A:p.V2051I,FN1:NM_001306131:exon40:c.G6145A:p.V2049I,FN1:NM_001306132:exon40:c.G6070A:p.V2024I,FN1:NM_002026:exon41:c.G6415A:p.V2139I,FN1:NM_212478:exon41:c.G6340A:p.V2114I,FN1:NM_212482:exon41:c.G6781A:p.V2261I,FN1:NM_001306129:exon42:c.G6688A:p.V2230I 1. 1. 1. 1. 1. 1. 1.0000 0.9998 1 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs1250209 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.174 B 0.002 0.179 B 0.000 0.629 N 0.998 0.810 P -0.455 0.028 N 0.29 0.589 T 0.19 0.066 N 0.165 0.309 -0.928 0.444 T 0.000 0.000 T . . . 3.072 0.429 22.4 0.918 0.205 0.526 0.289 D c -0.729 -0.429 1.000 0.747 0.732 0.924 0 5.6 0.849 4.715 0.614 0.154 0.240 1.000 0.715 0.999 0.750 11.650 0.504 Fibronectin type III;Fibronectin type III|Immunoglobulin-like fold;Fibronectin\x2c type I . . 1.0000 0.9997 1 1 1 1 1.0000 1 1 0.9998 0.9994 1 1 1 1 1 1 hom 2631.88 87 2 216235089 . C T 2631.88 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.82;MQ0=0;QD=30.25;VQSLOD=9.1978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:87:99:2665,208,0 2 216242917 216242917 T A exonic FN1 synonymous SNV FN1:NM_001306131:exon33:c.A5148T:p.G1716G,FN1:NM_001306132:exon33:c.A5148T:p.G1716G,FN1:NM_212474:exon33:c.A5148T:p.G1716G,FN1:NM_212476:exon33:c.A5148T:p.G1716G,FN1:NM_001306130:exon34:c.A5421T:p.G1807G,FN1:NM_002026:exon34:c.A5418T:p.G1806G,FN1:NM_212478:exon34:c.A5418T:p.G1806G,FN1:NM_001306129:exon35:c.A5691T:p.G1897G,FN1:NM_212482:exon35:c.A5691T:p.G1897G 0.32 0.06 0.39 0.77 0.25 0.26 0.2868 0.0883 0.4418 0.7818 0.2450 0.2406 0.2925 0.2473 0.19 0.091 0.24 0.25 0.23 rs1132741 COSM149058;COSM5653942 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3004 0.0831 0.4382 0.3631 0.7776 0.2372 0.2366 0.3019 0.2474 0.2265 0.0876 0.3726 0.39 0.7924 0.2491 0.2271 0.2684 het 862.89 121 2 216242917 . T A 862.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.579;DP=121;Dels=0.00;FS=2.568;HRun=0;HaplotypeScore=5.3777;MQ=58.71;MQ0=0;MQRankSum=0.961;QD=7.13;ReadPosRankSum=1.094;VQSLOD=3.5606;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,40:121:99:893,0,2187 2 216249587 216249587 C T exonic FN1 synonymous SNV FN1:NM_001306131:exon28:c.G4452A:p.E1484E,FN1:NM_001306132:exon28:c.G4452A:p.E1484E,FN1:NM_002026:exon28:c.G4452A:p.E1484E,FN1:NM_212474:exon28:c.G4452A:p.E1484E,FN1:NM_212476:exon28:c.G4452A:p.E1484E,FN1:NM_212478:exon28:c.G4452A:p.E1484E,FN1:NM_001306129:exon29:c.G4725A:p.E1575E,FN1:NM_001306130:exon29:c.G4725A:p.E1575E,FN1:NM_212482:exon29:c.G4725A:p.E1575E 0.87 0.78 0.89 1. 0.88 0.83 0.8752 0.8014 0.9269 0.9986 0.9239 0.8720 0.8587 0.8151 0.85 0.8 0.87 0.81 0.89 rs13652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8800 0.8054 0.9185 0.8429 0.9988 0.9221 0.8742 0.8671 0.8133 0.8734 0.8131 0.8890 0.8046 1 0.9270 0.8818 0.8890 hom 3717.56 123 2 216249587 . C T 3717.56 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3868;MQ=59.62;MQ0=0;QD=30.22;VQSLOD=8.4558;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,122:123:99:3690,283,0 2 216272900 216272900 T G exonic FN1 nonsynonymous SNV FN1:NM_001306129:exon17:c.A2449C:p.T817P,FN1:NM_001306130:exon17:c.A2449C:p.T817P,FN1:NM_001306131:exon17:c.A2449C:p.T817P,FN1:NM_001306132:exon17:c.A2449C:p.T817P,FN1:NM_002026:exon17:c.A2449C:p.T817P,FN1:NM_212474:exon17:c.A2449C:p.T817P,FN1:NM_212476:exon17:c.A2449C:p.T817P,FN1:NM_212478:exon17:c.A2449C:p.T817P,FN1:NM_212482:exon17:c.A2449C:p.T817P 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1 1 1 1. 1. 1. 1. 0.97 rs2577301 . . . . . . . . . . . . . 0.314 0.384 T 0.0 0.026 B 0.0 0.040 B 0.000 0.504 N 1.000 0.197 P -0.69 0.019 N 0.51 0.555 T 0.55 0.075 N 0.107 0.207 -0.957 0.398 T 0.000 0.000 T . . . 1.626 0.257 14.00 0.955 0.264 0.278 0.232 N c -0.403 -0.225 1.000 0.747 0.706 0.609 0 5.93 0.959 5.087 0.641 0.136 0.221 1.000 0.715 0.070 0.176 16.742 0.853 Fibronectin type III|Immunoglobulin-like fold . . 1.0000 0.9999 1 1 1 1 1 1 1 0.9998 0.9995 0.9988 1 1 1 1 1 hom 4908.41 148 2 216272900 . T G 4908.41 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8743;MQ=59.41;MQ0=0;QD=33.16;VQSLOD=8.5501;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4908,385,0 2 216272907 216272907 A T exonic FN1 synonymous SNV FN1:NM_001306129:exon17:c.T2442A:p.P814P,FN1:NM_001306130:exon17:c.T2442A:p.P814P,FN1:NM_001306131:exon17:c.T2442A:p.P814P,FN1:NM_001306132:exon17:c.T2442A:p.P814P,FN1:NM_002026:exon17:c.T2442A:p.P814P,FN1:NM_212474:exon17:c.T2442A:p.P814P,FN1:NM_212476:exon17:c.T2442A:p.P814P,FN1:NM_212478:exon17:c.T2442A:p.P814P,FN1:NM_212482:exon17:c.T2442A:p.P814P 0.42 0.22 0.47 0.93 0.28 0.28 0.3394 0.2283 0.5329 0.9220 0.3116 0.2650 0.3337 0.2808 0.25 0.23 0.26 0.45 0.23 rs7596677 COSM5021355;COSM5021354 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3523 0.2235 0.5239 0.3608 0.9244 0.3050 0.2594 0.3379 0.2790 0.2924 0.2128 0.4557 0.3675 0.9243 0.3105 0.2552 0.3014 het 1570.51 143 2 216272907 . A T 1570.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.748;DP=143;Dels=0.00;FS=4.185;HRun=0;HaplotypeScore=5.8212;MQ=59.38;MQ0=0;MQRankSum=0.953;QD=10.98;ReadPosRankSum=-0.910;VQSLOD=4.0216;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,63:143:99:1601,0,2165 2 216298084 216298084 G A exonic FN1 synonymous SNV FN1:NM_001306129:exon3:c.C378T:p.I126I,FN1:NM_001306130:exon3:c.C378T:p.I126I,FN1:NM_001306131:exon3:c.C378T:p.I126I,FN1:NM_001306132:exon3:c.C378T:p.I126I,FN1:NM_002026:exon3:c.C378T:p.I126I,FN1:NM_054034:exon3:c.C378T:p.I126I,FN1:NM_212474:exon3:c.C378T:p.I126I,FN1:NM_212476:exon3:c.C378T:p.I126I,FN1:NM_212478:exon3:c.C378T:p.I126I,FN1:NM_212482:exon3:c.C378T:p.I126I 0.14 0.25 0.14 0.001 0.24 0.04 0.1840 0.2444 0.0970 0.0021 0.2672 0.2394 0.1949 0.0446 0.24 0.24 0.24 0.15 0.23 rs2289202 COSM3757939;COSM3757937;COSM3757938 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1788 0.2451 0.1009 0.1338 0.0023 0.2639 0.2430 0.1994 0.0459 0.2288 0.2432 0.1325 0.1258 0.0043 0.2596 0.2447 0.2342 het 2860.03 236 2 216298084 . G A 2860.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.805;DP=236;DS;Dels=0.00;FS=2.903;HRun=1;HaplotypeScore=6.1577;MQ=59.28;MQ0=0;MQRankSum=0.045;QD=12.12;ReadPosRankSum=-0.211;VQSLOD=5.0795;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,110:236:99:2890,0,3237 2 216300482 216300482 T A exonic FN1 nonsynonymous SNV FN1:NM_001306129:exon1:c.A44T:p.Q15L,FN1:NM_001306130:exon1:c.A44T:p.Q15L,FN1:NM_001306131:exon1:c.A44T:p.Q15L,FN1:NM_001306132:exon1:c.A44T:p.Q15L,FN1:NM_002026:exon1:c.A44T:p.Q15L,FN1:NM_054034:exon1:c.A44T:p.Q15L,FN1:NM_212474:exon1:c.A44T:p.Q15L,FN1:NM_212476:exon1:c.A44T:p.Q15L,FN1:NM_212478:exon1:c.A44T:p.Q15L,FN1:NM_212482:exon1:c.A44T:p.Q15L 0.8 0.9 0.79 0.92 0.77 0.55 0.7691 0.8811 0.7733 0.9199 0.8193 0.7666 0.7599 0.6154 0.79 0.87 0.75 0.67 0.56 rs1250259 COSM3757941;COSM3757940;COSM3757942 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.131 B 0.0 0.133 B 0.088 0.205 N 1.000 0.192 P -0.895 0.014 N 1.28 0.360 T 1.02 0.033 N 0.102 0.117 -0.961 0.390 T 0.000 0.000 T . . . 1.570 0.250 13.69 0.882 0.173 0.014 0.046 N c -0.932 -0.621 1.000 0.747 0.726 0.872 0 5.35 0.762 3.533 0.531 0.125 0.212 1.000 0.715 0.947 0.422 11.474 0.493 . . . 0.7565 0.8759 0.7694 0.8077 0.9236 0.7991 0.7413 0.7714 0.5980 0.7912 0.8614 0.7613 0.8013 0.9302 0.7946 0.7365 0.7811 hom 935.59 27 2 216300482 . T A 935.59 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.65;VQSLOD=13.5678;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:78.23:969,78,0 2 216908679 216908679 C T exonic PECR synonymous SNV PECR:NM_018441:exon7:c.G774A:p.S258S 0.14 0.043 0.15 0.12 0.23 0.19 0.2037 0.0690 0.1436 0.1004 0.2769 0.2450 0.2238 0.1879 0.19 0.079 0.25 0.11 0.22 rs2303842 COSM149060 2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2044 0.0664 0.1456 0.1507 0.0981 0.2820 0.2524 0.1968 0.1854 0.1902 0.0720 0.1435 0.1490 0.0928 0.2751 0.2516 0.2149 het 840.79 60 2 216908679 . C T 840.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.581;DP=60;Dels=0.00;FS=5.157;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-0.431;QD=14.01;ReadPosRankSum=0.565;VQSLOD=5.9711;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,33:60:99:871,0,695 2 217012901 217012901 A G exonic XRCC5 synonymous SNV XRCC5:NM_021141:exon14:c.A1572G:p.T524T 0.88 0.88 0.9 0.93 0.87 0.83 0.8710 0.8792 0.8872 0.9229 0.9149 0.8689 0.8756 0.8175 0.87 0.88 0.87 0.89 0.83 rs207906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8760 0.8770 0.8922 0.8817 0.9210 0.9220 0.8704 0.8693 0.8191 0.8815 0.8683 0.9093 0.8742 0.9220 0.9187 0.8729 0.9083 het 1528.64 115 2 217012901 . A G 1528.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.933;DP=115;Dels=0.00;FS=7.444;HRun=0;HaplotypeScore=2.4344;MQ=60.00;MQ0=0;MQRankSum=1.541;QD=13.29;ReadPosRankSum=-1.032;VQSLOD=4.3440;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,57:115:99:1559,0,1535 2 217148417 217148417 C A exonic MARCH4 synonymous SNV MARCH4:NM_020814:exon2:c.G552T:p.S184S 0.44 0.31 0.43 0.43 0.49 0.55 0.4719 0.3338 0.3936 0.4276 0.5864 0.4845 0.4978 0.5380 0.43 0.33 0.48 0.39 0.46 rs876771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4725 0.3246 0.4019 0.4666 0.4176 0.5969 0.4810 0.4750 0.5343 0.4509 0.3204 0.3652 0.43 0.4217 0.5986 0.4966 0.5133 het 1260.33 75 2 217148417 . C A 1260.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.594;DP=75;Dels=0.00;FS=7.628;HRun=0;HaplotypeScore=0.9993;MQ=59.69;MQ0=0;MQRankSum=0.494;QD=16.80;ReadPosRankSum=0.971;VQSLOD=4.3205;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,40:75:99:1290,0,862 2 217315787 217315787 T C exonic SMARCAL1 synonymous SNV SMARCAL1:NM_001127207:exon12:c.T2070C:p.T690T,SMARCAL1:NM_014140:exon12:c.T2070C:p.T690T 0.085 0.043 0.048 0.0079 0.1 0.22 0.1138 0.0490 0.0414 0.0064 0.1535 0.1248 0.1122 0.1989 0.1 0.049 0.13 0.087 0.21 rs2066527 COSM442296 1(haematopoietic_and_lymphoid_tissue);1(skin) Benign|Likely benign not_specified|Schimke_immunoosseous_dysplasia RCV000251280.1|RCV000293182.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0877024:242900:ORPHA1830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1098 0.0451 0.0436 0.0798 0.0059 0.1539 0.1251 0.0992 0.1967 0.1035 0.0468 0.0467 0.0795 0.0080 0.1509 0.1388 0.1130 het 710.21 57 2 217315787 . T C 710.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.382;DP=57;Dels=0.00;FS=1.267;HRun=1;HaplotypeScore=0.0000;MQ=58.41;MQ0=0;MQRankSum=0.072;QD=12.46;ReadPosRankSum=-0.088;VQSLOD=5.7464;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,29:57:99:740,0,733 2 217541582 217541582 T C exonic IGFBP5 synonymous SNV IGFBP5:NM_000599:exon4:c.A711G:p.K237K 0.98 0.93 0.99 1. 1. 1. 0.9942 0.9378 0.9967 1 1 0.9997 0.9978 0.9999 0.98 0.94 1. 0.84 0.99 rs2160549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9952 0.9361 0.9967 1 1 1.0000 0.9996 0.9967 0.9998 0.9820 0.9382 0.9905 1 1 1 0.9995 0.9980 hom 7647.63 223 2 217541582 . T C 7647.63 Mask AC=2;AF=1.00;AN=2;DP=223;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.33;MQ0=0;QD=34.29;VQSLOD=9.0970;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,223:223:99:7647,605,0 2 218674697 218674697 C T exonic TNS1 nonsynonymous SNV TNS1:NM_001308023:exon27:c.G4747A:p.V1583I,TNS1:NM_001308022:exon28:c.G4768A:p.V1590I,TNS1:NM_022648:exon30:c.G4810A:p.V1604I 0.61 0.81 0.59 0.51 0.59 0.49 0.5949 0.7765 0.6295 0.5022 0.5499 0.6060 0.6071 0.4768 0.66 0.77 0.61 0.64 0.55 rs918949 COSM5001898 1(bone);1(pancreas);1(skin) . . . . . . . . . . . 0.873 0.030 T 0.0 0.026 B 0.003 0.080 B 0.029 0.255 N 0.999 0.213 P -1.935 0.002 N 0.97 0.425 T 0.58 0.026 N 0.065 0.080 -0.934 0.435 T 0.000 0.000 T . . . 0.416 0.134 6.751 0.593 0.060 0.466 0.276 N c -1.415 -1.289 1.000 0.451 0.707 0.730 0 -4.71 0.030 0.475 0.217 0.841 0.343 0.997 0.399 0.998 0.697 15.396 0.744 PH domain-like|PTB/PI domain|Tensin phosphotyrosine-binding domain;SH2 domain . . 0.5942 0.7778 0.6352 0.6735 0.5094 0.5428 0.6047 0.6099 0.4766 0.6406 0.7723 0.6547 0.6424 0.5434 0.5446 0.5994 0.5871 hom 2953.49 96 2 218674697 . C T 2953.49 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.42;MQ0=0;QD=30.77;VQSLOD=8.2193;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2986,232,0 2 218682474 218682474 A G exonic TNS1 synonymous SNV TNS1:NM_001308023:exon21:c.T4206C:p.S1402S,TNS1:NM_001308022:exon22:c.T4230C:p.S1410S,TNS1:NM_022648:exon24:c.T4269C:p.S1423S 0.38 0.4 0.43 0.25 0.41 0.41 0.4032 0.3929 0.4504 0.2620 0.3871 0.4169 0.4238 0.3998 0.41 0.39 0.41 0.32 0.41 rs12694422 COSM4419196 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4034 0.3942 0.4530 0.4423 0.2605 0.3846 0.4128 0.4143 0.3989 0.3897 0.3889 0.4570 0.4106 0.2854 0.3955 0.3948 0.4057 het 1736.08 133 2 218682474 . A G 1736.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.581;DP=133;Dels=0.00;FS=8.788;HRun=0;HaplotypeScore=1.9966;MQ=59.32;MQ0=0;MQRankSum=0.857;QD=13.05;ReadPosRankSum=-0.715;VQSLOD=4.9016;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,73:133:99:1766,0,1718 2 218682771 218682771 A G exonic TNS1 synonymous SNV TNS1:NM_001308023:exon21:c.T3909C:p.G1303G,TNS1:NM_001308022:exon22:c.T3933C:p.G1311G,TNS1:NM_022648:exon24:c.T3972C:p.G1324G 0.33 0.24 0.41 0.25 0.41 0.41 0.4140 0.2621 0.4874 0.2960 0.4212 0.4400 0.4464 0.4116 0.34 0.23 0.4 0.29 0.21 rs3796026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3881 0.2342 0.4431 0.4402 0.2549 0.3792 0.4070 0.4055 0.3966 0.3454 0.2357 0.4463 0.4106 0.2811 0.3959 0.3938 0.4029 het 147.76 18 2 218682771 . A G 147.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.555;DP=18;Dels=0.00;FS=2.003;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.489;QD=8.21;ReadPosRankSum=-1.821;VQSLOD=5.4284;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:178,0,293 2 218683154 218683154 A G exonic TNS1 nonsynonymous SNV TNS1:NM_001308023:exon21:c.T3526C:p.W1176R,TNS1:NM_001308022:exon22:c.T3550C:p.W1184R,TNS1:NM_022648:exon24:c.T3589C:p.W1197R 0.66 0.84 0.62 0.62 0.59 0.56 0.6196 0.8082 0.6433 0.6221 0.5495 0.6101 0.6278 0.5486 0.68 0.8 0.61 0.65 0.54 rs2571445 . . . . . . . Pulmonary function . .07 20010834 rs2571445 1E-12 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.043 0.238 N 1.000 0.204 P -2.22 0.001 N -2.55 0.896 D 3.82 0.001 N 0.087 0.083 -0.945 0.418 T 0.000 0.000 T . . . 0.285 0.121 5.551 0.620 0.067 0.148 0.184 N c -0.924 -0.676 1.000 0.434 0.563 0.310 0 3.71 0.416 2.696 0.465 0.138 0.222 1.000 0.715 0.509 0.272 7.287 0.254 . . . 0.6171 0.8126 0.6465 0.6543 0.6215 0.5428 0.6103 0.6206 0.5512 0.6576 0.8089 0.6463 0.6424 0.6422 0.5447 0.6022 0.6045 hom 3194.03 108 2 218683154 . A G 3194.03 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5463;MQ=59.57;MQ0=0;QD=29.57;VQSLOD=7.8744;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3227,268,0 2 218683257 218683257 A G exonic TNS1 synonymous SNV TNS1:NM_001308023:exon21:c.T3423C:p.A1141A,TNS1:NM_001308022:exon22:c.T3447C:p.A1149A,TNS1:NM_022648:exon24:c.T3486C:p.A1162A 0.4 0.5 0.43 0.25 0.41 0.41 0.4081 0.4626 0.4510 0.2574 0.3852 0.4169 0.4251 0.3946 0.43 0.46 0.41 0.37 0.41 rs2571442 COSM4133431 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4081 0.4630 0.4548 0.4517 0.2570 0.3840 0.4131 0.4175 0.3982 0.4084 0.4532 0.4582 0.4205 0.2831 0.3952 0.3952 0.4175 het 1037.04 76 2 218683257 . A G 1037.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.899;DP=76;Dels=0.00;FS=10.380;HRun=1;HaplotypeScore=0.7887;MQ=59.70;MQ0=0;MQRankSum=-0.848;QD=13.65;ReadPosRankSum=1.774;VQSLOD=3.7149;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,36:76:99:1067,0,1111 2 218683368 218683368 C T exonic TNS1 synonymous SNV TNS1:NM_001308023:exon21:c.G3312A:p.P1104P,TNS1:NM_001308022:exon22:c.G3336A:p.P1112P,TNS1:NM_022648:exon24:c.G3375A:p.P1125P 0.22 0.064 0.32 0.23 0.27 0.28 0.2731 0.0856 0.3812 0.2442 0.2126 0.2930 0.2715 0.2733 0.23 0.091 0.3 0.18 0.27 rs34144104 COSM442299 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2778 0.0801 0.3791 0.2657 0.2444 0.2165 0.2934 0.2859 0.2752 0.2145 0.0827 0.3711 0.2053 0.2713 0.2225 0.2713 0.2658 het 812.13 68 2 218683368 . C T 812.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.537;DP=68;Dels=0.00;FS=2.018;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=0.911;QD=11.94;ReadPosRankSum=0.148;VQSLOD=5.7546;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,31:68:99:842,0,947 2 218712306 218712306 C T exonic TNS1 synonymous SNV TNS1:NM_001308022:exon16:c.G2559A:p.A853A,TNS1:NM_001308023:exon16:c.G2559A:p.A853A,TNS1:NM_022648:exon17:c.G2559A:p.A853A 0.43 0.62 0.31 0.34 0.35 0.45 0.3530 0.5852 0.2610 0.3417 0.3472 0.3183 0.3271 0.4623 0.4 0.56 0.31 0.52 0.29 rs1004814 COSM3766536 4(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3522 0.5848 0.2750 0.3832 0.3428 0.3482 0.3179 0.3428 0.4479 0.4012 0.5847 0.3055 0.3940 0.3389 0.3377 0.3260 0.3299 het 1525.51 136 2 218712306 . C T 1525.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.895;DP=136;DS;Dels=0.00;FS=1.474;HRun=1;HaplotypeScore=4.1793;MQ=59.04;MQ0=0;MQRankSum=-1.158;QD=11.22;ReadPosRankSum=-0.648;VQSLOD=5.4652;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,62:136:99:1556,0,1791 2 218712606 218712606 G A exonic TNS1 synonymous SNV TNS1:NM_001308022:exon16:c.C2259T:p.S753S,TNS1:NM_001308023:exon16:c.C2259T:p.S753S,TNS1:NM_022648:exon17:c.C2259T:p.S753S 0.44 0.62 0.32 0.34 0.35 0.45 0.3582 0.5959 0.2617 0.3395 0.3456 0.3226 0.3321 0.4696 0.4 0.56 0.31 0.52 0.25 rs1364641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3514 0.5863 0.2714 0.3815 0.3406 0.3465 0.3186 0.3452 0.4473 0.4014 0.5877 0.3050 0.3940 0.3350 0.3379 0.3252 0.3303 het 320.48 26 2 218712606 . G A 320.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-0.359;QD=12.33;ReadPosRankSum=1.436;VQSLOD=6.5324;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,13:26:99:350,0,418 2 218712726 218712726 A G exonic TNS1 synonymous SNV TNS1:NM_001308022:exon16:c.T2139C:p.N713N,TNS1:NM_001308023:exon16:c.T2139C:p.N713N,TNS1:NM_022648:exon17:c.T2139C:p.N713N 0.44 0.62 0.32 0.35 0.35 0.45 0.3518 0.5923 0.2611 0.3426 0.3474 0.3180 0.3274 0.4515 0.4 0.56 0.31 0.52 0.33 rs1364642 COSM4001498 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3526 0.5870 0.2757 0.3749 0.3430 0.3477 0.3171 0.3440 0.4499 0.4017 0.5880 0.3050 0.3933 0.3399 0.3376 0.3255 0.3289 het 1222.14 86 2 218712726 . A G 1222.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.144;DP=86;Dels=0.00;FS=1.771;HRun=0;HaplotypeScore=6.8708;MQ=59.13;MQ0=0;MQRankSum=1.475;QD=14.21;ReadPosRankSum=0.685;VQSLOD=4.7516;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:39,47:86:99:1252,0,896 2 218713282 218713282 G A exonic TNS1 nonsynonymous SNV TNS1:NM_001308022:exon16:c.C1583T:p.T528I,TNS1:NM_001308023:exon16:c.C1583T:p.T528I,TNS1:NM_022648:exon17:c.C1583T:p.T528I 0.41 0.6 0.31 0.29 0.35 0.43 0.3454 0.5594 0.2563 0.2848 0.3423 0.3135 0.3194 0.4373 0.39 0.54 0.31 0.49 0.33 rs3796033 COSM4001500;COSM4001499 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.079 0.424 T 0.013 0.404 B 0.008 0.333 B 0.037 0.244 N 0.981 0.251 P 1.995 0.543 M -2.86 0.941 D -1.77 0.435 N 0.108 0.514 -0.906 0.474 T 0.000 0.000 T . . . 1.658 0.261 14.17 0.995 0.664 0.813 0.404 D c -0.150 -0.076 1.000 0.747 0.722 0.854 0 2.37 0.282 2.221 0.423 1.048 0.713 0.992 0.373 1.000 0.888 7.240 0.251 . ENSG00000079308.12 Whole_Blood 0.3385 0.5587 0.2660 0.3635 0.2881 0.3406 0.3103 0.3349 0.4292 0.3872 0.5609 0.2971 0.3841 0.2816 0.3321 0.3196 0.3238 het 1566.90 125 2 218713282 . G A 1566.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.486;DP=125;Dels=0.00;FS=6.064;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.323;QD=12.54;ReadPosRankSum=-0.467;VQSLOD=5.6697;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,62:125:99:1597,0,1706 2 218745685 218745685 G A exonic TNS1 synonymous SNV TNS1:NM_001308022:exon15:c.C990T:p.S330S,TNS1:NM_001308023:exon15:c.C990T:p.S330S,TNS1:NM_022648:exon16:c.C990T:p.S330S 0.53 0.58 0.54 0.53 0.61 0.37 0.5426 0.5881 0.4457 0.5398 0.5458 0.5933 0.5442 0.3774 0.6 0.59 0.6 0.45 0.55 rs10199795 COSM3757946;COSM149063 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5411 0.5876 0.4619 0.5355 0.5438 0.5599 0.5993 0.5524 0.3777 0.5658 0.5740 0.4844 0.5762 0.5174 0.5430 0.5772 0.5479 het 2160.27 144 2 218745685 . G A 2160.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.892;DP=144;Dels=0.00;FS=6.064;HRun=0;HaplotypeScore=1.9975;MQ=59.48;MQ0=0;MQRankSum=1.285;QD=15.00;ReadPosRankSum=-0.907;VQSLOD=4.9050;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,80:144:99:2190,0,1756 2 218758200 218758200 T G exonic TNS1 nonsynonymous SNV TNS1:NM_001308022:exon7:c.A304C:p.N102H,TNS1:NM_001308023:exon7:c.A304C:p.N102H,TNS1:NM_022648:exon8:c.A304C:p.N102H 0.013 0.0023 0.0086 . 0.02 0.035 0.0233 0.0038 0.0087 0.0002 0.0534 0.0236 0.0290 0.0447 0.016 0.0043 0.022 0.011 . rs61745748 . . . . . . . . . . . . . 0.009 0.682 D 0.988 0.899 D 0.819 0.916 P 0.000 0.629 D 1.000 0.548 D 1.55 0.394 L -5.03 0.986 D -4.06 0.797 D 0.068 0.251 0.589 0.918 D 0.881 0.961 D . . . 5.478 0.744 26.2 0.991 0.524 0.986 0.847 D c 0.473 0.504 1.000 0.747 0.615 0.372 0 5.09 0.685 6.279 0.725 1.061 0.807 1.000 0.715 0.994 0.587 14.694 0.686 Protein-tyrosine phosphatase-like|Tensin phosphatase\x2c lipid phosphatase domain . . 0.0226 0.0037 0.0074 0.0068 0.0002 0.0543 0.0230 0.0187 0.0425 0.0196 0.0031 0.0060 0.0033 0 0.0570 0.0225 0.0367 het 1460.75 111 2 218758200 . T G 1460.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.969;DP=111;Dels=0.00;FS=2.802;HRun=1;HaplotypeScore=3.8151;MQ=58.55;MQ0=0;MQRankSum=-0.766;QD=13.16;ReadPosRankSum=-0.938;VQSLOD=4.9404;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,57:111:99:1491,0,1466 2 218940259 218940259 C T exonic RUFY4 synonymous SNV RUFY4:NM_198483:exon9:c.C1044T:p.P348P 0.23 0.034 0.34 0.23 0.31 0.34 0.3124 0.0689 0.4856 0.2594 0.3998 0.3081 0.3057 0.3614 0.22 0.073 0.29 0.18 . rs7423696 COSM4133442;COSM4133441 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3118 0.0656 0.4570 0.2323 0.2439 0.3970 0.3025 0.3003 0.3496 0.2560 0.0701 0.4189 0.2517 0.2301 0.3932 0.3212 0.3323 hom 688.46 23 2 218940259 . C T 688.46 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.93;VQSLOD=13.5798;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.17:721,57,0 2 218940418 218940418 C T exonic RUFY4 synonymous SNV RUFY4:NM_198483:exon9:c.C1203T:p.A401A 0.17 0.15 0.11 0.15 0.14 0.29 0.1420 0.1407 0.1002 0.1544 0.1867 0.1287 0.1684 0.2434 0.12 0.13 0.12 0.16 . rs4674246 COSM3757950;COSM3757951 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1436 0.1369 0.1033 0.1411 0.1523 0.1872 0.1274 0.1357 0.2388 0.1384 0.1223 0.1265 0.1457 0.1650 0.1950 0.1313 0.1541 het 1351.50 119 2 218940418 . C T 1351.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.596;DP=119;Dels=0.01;FS=0.709;HRun=0;HaplotypeScore=6.3762;MQ=59.27;MQ0=0;MQRankSum=0.466;QD=11.26;ReadPosRankSum=-1.015;VQSLOD=4.9071;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:64,55:119:99:1381,0,1683 2 219140288 219140288 G C exonic TMBIM1 synonymous SNV TMBIM1:NM_001321438:exon11:c.C513G:p.P171P,TMBIM1:NM_001321428:exon12:c.C846G:p.P282P,TMBIM1:NM_001321432:exon12:c.C846G:p.P282P,TMBIM1:NM_022152:exon12:c.C846G:p.P282P,TMBIM1:NM_001321427:exon13:c.C846G:p.P282P,TMBIM1:NM_001321429:exon13:c.C846G:p.P282P,TMBIM1:NM_001321430:exon13:c.C846G:p.P282P,TMBIM1:NM_001321433:exon13:c.C846G:p.P282P,TMBIM1:NM_001321435:exon13:c.C846G:p.P282P,TMBIM1:NM_001321436:exon13:c.C846G:p.P282P 0.33 0.2 0.4 0.38 0.37 0.37 0.3809 0.2524 0.4569 0.3879 0.3114 0.4013 0.3581 0.3514 0.36 0.27 0.41 0.32 0.3 rs2292550 COSM3757952 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3837 0.2445 0.4540 0.3928 0.3858 0.2992 0.4053 0.4075 0.3515 0.3456 0.2553 0.4021 0.3377 0.4079 0.2900 0.3985 0.3885 het 843.68 75 2 219140288 . G C 843.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.925;DP=75;Dels=0.00;FS=3.169;HRun=1;HaplotypeScore=2.9581;MQ=59.17;MQ0=0;MQRankSum=1.498;QD=11.25;ReadPosRankSum=0.449;VQSLOD=5.3867;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,36:75:99:874,0,1045 2 219144815 219144815 T C exonic TMBIM1 synonymous SNV TMBIM1:NM_001321428:exon3:c.A237G:p.A79A,TMBIM1:NM_001321432:exon3:c.A237G:p.A79A,TMBIM1:NM_022152:exon3:c.A237G:p.A79A,TMBIM1:NM_001321427:exon4:c.A237G:p.A79A,TMBIM1:NM_001321429:exon4:c.A237G:p.A79A,TMBIM1:NM_001321430:exon4:c.A237G:p.A79A,TMBIM1:NM_001321433:exon4:c.A237G:p.A79A,TMBIM1:NM_001321435:exon4:c.A237G:p.A79A,TMBIM1:NM_001321436:exon4:c.A237G:p.A79A 0.99 0.97 1. 1. 1. 1. 0.9987 0.9863 0.9991 1 1 0.9999 1 1 1. 0.99 1. 1. 0.99 rs2045435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9990 0.9867 0.9994 1 1 1 0.9998 0.9996 1.0000 0.9961 0.9866 0.9976 1 1 1 0.9998 1 hom 4719.62 167 2 219144815 . T C 4719.62 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2437;MQ=59.59;MQ0=0;QD=28.26;VQSLOD=7.3012;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,166:167:99:4718,385,0 2 219146803 219146803 G A exonic TMBIM1 nonsynonymous SNV TMBIM1:NM_001321428:exon2:c.C62T:p.P21L,TMBIM1:NM_001321432:exon2:c.C62T:p.P21L,TMBIM1:NM_022152:exon2:c.C62T:p.P21L,TMBIM1:NM_001321427:exon3:c.C62T:p.P21L,TMBIM1:NM_001321429:exon3:c.C62T:p.P21L,TMBIM1:NM_001321430:exon3:c.C62T:p.P21L,TMBIM1:NM_001321433:exon3:c.C62T:p.P21L,TMBIM1:NM_001321435:exon3:c.C62T:p.P21L,TMBIM1:NM_001321436:exon3:c.C62T:p.P21L 0.45 0.059 0.51 0.62 0.58 0.63 0.5587 0.1382 0.5149 0.6211 0.6947 0.5786 0.6018 0.6678 0.41 0.14 0.55 0.42 0.46 rs2292553 COSM4133447 1(breast);1(thyroid) . . . . . . . . . . . 0.611 0.284 T 0.001 0.067 B 0.0 0.013 B 0.580 0.111 N 1.000 0.258 P 2.885 0.838 M 0.85 0.471 T -0.96 0.982 N 0.138 0.594 -0.929 0.443 T 0.000 0.000 T . . . 0.735 0.164 9.057 0.908 0.195 0.653 0.324 D c -0.697 -0.683 1.000 0.434 0.722 0.854 0 2.94 0.330 1.806 0.383 0.844 0.344 0.967 0.338 0.589 0.286 6.885 0.232 . ENSG00000261338.1|ENSG00000135926.8|ENSG00000127838.9|ENSG00000163466.11|ENSG00000261338.1|ENSG00000261338.1|ENSG00000127838.9|ENSG00000261338.1|ENSG00000135926.8|ENSG00000261338.1|ENSG00000261338.1|ENSG00000135926.8|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000135926.8|ENSG00000261338.1|ENSG00000135926.8|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000135926.8|ENSG00000261338.1|ENSG00000135926.8|ENSG00000127838.9|ENSG00000163466.11|ENSG00000261338.1|ENSG00000135926.8|ENSG00000261338.1|ENSG00000127838.9|ENSG00000163466.11|ENSG00000261338.1|ENSG00000135926.8|ENSG00000163466.11|ENSG00000261338.1|ENSG00000135926.8|ENSG00000179921.10|ENSG00000163466.11|ENSG00000261338.1|ENSG00000179921.10|ENSG00000261338.1|ENSG00000127838.9|ENSG00000135926.8|ENSG00000261338.1|ENSG00000261338.1|ENSG00000127838.9|ENSG00000261338.1|ENSG00000127838.9|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000135926.8|ENSG00000163464.7|ENSG00000179921.10|ENSG00000127838.9|ENSG00000261338.1|ENSG00000127838.9|ENSG00000261338.1|ENSG00000261338.1|ENSG00000127838.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Pituitary|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.5510 0.1188 0.4937 0.5278 0.6181 0.6841 0.5656 0.5406 0.6477 0.4585 0.1341 0.5372 0.5563 0.5902 0.6885 0.5676 0.5543 het 186.16 11 2 219146803 . G A 186.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.715;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.382;QD=16.92;ReadPosRankSum=-1.106;VQSLOD=11.8936;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:3,8:11:53.19:216,0,53 2 219231807 219231807 C T exonic CATIP synonymous SNV CATIP:NM_001320865:exon8:c.C849T:p.P283P,CATIP:NM_198559:exon8:c.C816T:p.P272P 0.99 0.97 1. 1. 1. 1. 0.9986 0.9862 0.9990 1 1 0.9997 0.9967 0.9999 1. 0.99 1. 1. 1. rs3845833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9865 0.9985 0.9999 1 1 0.9997 0.9989 1.0000 0.9961 0.9872 0.9976 1 1 1 0.9996 0.9990 hom 2195.85 75 2 219231807 . C T 2195.85 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.28;VQSLOD=13.8891;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2229,171,0 2 219254622 219254622 A G exonic SLC11A1 synonymous SNV SLC11A1:NM_000578:exon9:c.A825G:p.A275A 0.98 0.94 1. 1. 1. 1. 0.9956 0.9550 0.9972 1 1 0.9996 0.9967 0.9999 0.99 0.96 1. 0.99 1. rs2695342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9550 0.9969 0.9999 1 1 0.9995 0.9974 0.9999 0.9879 0.9581 0.9976 1 1 1 0.9996 0.9990 hom 1773.78 61 2 219254622 . A G 1773.78 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=29.08;VQSLOD=8.5510;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1807,150,0 2 219267781 219267781 C T exonic CTDSP1 synonymous SNV CTDSP1:NM_001206878:exon5:c.C399T:p.H133H,CTDSP1:NM_021198:exon5:c.C402T:p.H134H,CTDSP1:NM_182642:exon5:c.C399T:p.H133H 0.47 0.032 0.58 0.69 0.62 0.58 0.5651 0.1119 0.5902 0.6953 0.6030 0.6043 0.5938 0.5888 0.45 0.14 0.61 0.42 0.43 rs2227255 COSM1405459 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5750 0.1017 0.5814 0.6278 0.6966 0.6020 0.6028 0.5819 0.5972 0.4729 0.1135 0.5921 0.6159 0.7010 0.6071 0.6108 0.5735 hom 2613.38 88 2 219267781 . C T 2613.38 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2215;MQ=58.67;MQ0=0;QD=29.70;VQSLOD=8.6958;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2646,208,0 2 219319657 219319657 A G exonic USP37 nonsynonymous SNV USP37:NM_020935:exon26:c.T2936C:p.L979S 0.98 0.94 1. 1. 1. 1. 0.9967 0.9637 0.9986 1 1 0.9998 1 0.9999 0.99 0.97 1. 0.99 1. rs6436058 . . . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.001 0.040 B 0.069 0.216 N 1 0.090 P . . . 0.68 0.547 T -0.31 0.121 N 0.135 0.162 -0.982 0.345 T 0.000 0.000 T . . . 2.798 0.397 21.4 0.990 0.487 0.131 0.174 N c -1.289 -1.212 0.293 0.191 0.707 0.730 0 -0.795 0.103 0.519 0.224 -1.443 0.011 0.813 0.296 0.005 0.090 11.719 0.508 Peptidase C19\x2c ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain . . 0.9975 0.9650 0.9982 1 0.9999 1 0.9999 0.9991 0.9998 0.9903 0.9663 0.9940 1 1 1 0.9999 0.9990 hom 4918.69 174 2 219319657 . A G 4918.69 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=2.9560;MQ=59.04;MQ0=0;QD=28.11;VQSLOD=7.9012;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,174:174:99:4918,397,0 2 219492924 219492924 T C exonic PLCD4 synonymous SNV PLCD4:NM_032726:exon7:c.T945C:p.C315C 0.51 0.071 0.59 0.78 0.59 0.68 0.5704 0.1428 0.6108 0.7696 0.5614 0.5787 0.6067 0.6602 0.44 0.16 0.57 0.45 . rs612874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5781 0.1344 0.6004 0.6080 0.7731 0.5672 0.5771 0.5790 0.6664 0.4657 0.1511 0.5656 0.5629 0.7621 0.5656 0.5797 0.5662 het 2678.79 210 2 219492924 . T C 2678.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.180;DP=210;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8182;MQ=59.06;MQ0=0;MQRankSum=2.998;QD=12.76;ReadPosRankSum=0.992;VQSLOD=4.4275;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,108:210:99:2709,0,2657 2 219508372 219508372 A T exonic ZNF142 nonsynonymous SNV ZNF142:NM_001105537:exon8:c.T2867A:p.L956H 0.19 0.028 0.33 0.056 0.38 0.27 0.3206 0.0735 0.3341 0.0641 0.4050 0.3838 0.3249 0.2985 0.29 0.079 0.38 0.15 0.32 rs3770213 COSM3757955;COSM3757954 1(large_intestine) . . . . . . . . . . . 0.142 0.254 T 0.979 0.571 D 0.533 0.468 P 0.010 0.013 N 1 0.090 P 1.04 0.263 L 2.53 0.140 T -0.74 0.208 N 0.077 0.068 -0.962 0.389 T 0.000 0.000 T . . . 2.401 0.350 18.83 0.960 0.278 0.245 0.222 N c -0.648 -0.814 0.707 0.228 0.707 0.730 0 -1.58 0.080 -0.072 0.114 0.230 0.258 0.000 0.063 0.143 0.203 5.506 0.160 . ENSG00000135913.6|ENSG00000115556.9|ENSG00000115556.9|ENSG00000115556.9|ENSG00000135913.6|ENSG00000135912.6|ENSG00000135913.6|ENSG00000115556.9|ENSG00000135913.6|ENSG00000135929.4|ENSG00000144580.9|ENSG00000135912.6|ENSG00000135913.6|ENSG00000135929.4|ENSG00000135913.6|ENSG00000115556.9|ENSG00000144580.9|ENSG00000135929.4 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3200 0.0697 0.3413 0.3567 0.0612 0.4026 0.3850 0.3449 0.2820 0.2793 0.0720 0.3556 0.3742 0.0592 0.4021 0.3839 0.3609 het 4076.28 250 2 219508372 . A T 4076.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.919;DP=250;DS;Dels=0.00;FS=5.462;HRun=0;HaplotypeScore=6.5799;MQ=59.20;MQ0=1;MQRankSum=0.649;QD=16.31;ReadPosRankSum=-0.569;VQSLOD=3.7733;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:119,131:250:99:3443,0,3261 2 219508988 219508988 T C exonic ZNF142 nonsynonymous SNV ZNF142:NM_001105537:exon8:c.A2251G:p.S751G 0.76 0.81 0.66 0.94 0.62 0.74 0.6711 0.7925 0.6581 0.9366 0.5951 0.6184 0.6856 0.7123 0.68 0.8 0.62 0.79 0.62 rs3770214 COSM5653946;COSM5653945 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.665 0.046 T 0.0 0.026 B 0.0 0.013 B 0.767 0.066 N 1 0.090 P -0.46 0.027 N 2.83 0.108 T 0.95 0.015 N 0.006 0.000 -1.051 0.142 T 0.000 0.000 T . . . -2.323 0.005 0.001 0.271 0.013 0.043 0.098 N c -1.356 -1.245 0.695 0.226 0.707 0.730 0 1.43 0.215 0.149 0.159 -0.328 0.075 0.004 0.165 0.788 0.332 5.841 0.178 . ENSG00000135913.6|ENSG00000115556.9|ENSG00000115556.9|ENSG00000135913.6|ENSG00000135913.6|ENSG00000115556.9|ENSG00000135913.6|ENSG00000144580.9|ENSG00000135912.6|ENSG00000135913.6|ENSG00000135929.4|ENSG00000135913.6|ENSG00000115556.9|ENSG00000144580.9|ENSG00000135929.4 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6680 0.7941 0.6510 0.6554 0.9385 0.5991 0.6161 0.6483 0.7181 0.6832 0.7975 0.6292 0.6258 0.9399 0.5978 0.6160 0.6350 het 2140.22 169 2 219508988 . T C 2140.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.912;DP=169;Dels=0.00;FS=4.557;HRun=1;HaplotypeScore=5.0593;MQ=59.38;MQ0=0;MQRankSum=0.207;QD=12.66;ReadPosRankSum=-2.114;VQSLOD=4.4517;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,78:169:99:2170,0,2439 2 219509618 219509618 C A exonic ZNF142 nonsynonymous SNV ZNF142:NM_001105537:exon8:c.G1621T:p.A541S 0.52 0.071 0.59 0.82 0.59 0.68 0.5741 0.1434 0.6099 0.8216 0.5625 0.5786 0.6080 0.6608 0.44 0.17 0.58 0.45 0.5 rs2230115 COSM5653947;COSM5653948 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.279 0.155 T 0.732 0.408 P 0.419 0.460 B 0.036 0.245 N 1 0.090 P 2.3 0.659 M 2.78 0.113 T -0.54 0.166 N 0.074 0.064 -1.162 0.007 T 0.000 0.000 T . . . 0.829 0.173 9.639 0.951 0.256 0.380 0.257 N c -0.294 -0.295 1.000 0.454 0.722 0.854 0 5.08 0.682 0.812 0.267 0.059 0.165 0.301 0.251 0.606 0.290 10.901 0.461 . ENSG00000135913.6|ENSG00000115556.9|ENSG00000135912.6|ENSG00000135913.6|ENSG00000135929.4|ENSG00000135912.6|ENSG00000135929.4|ENSG00000135913.6|ENSG00000074582.8|ENSG00000115556.9|ENSG00000144580.9|ENSG00000135929.4 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5817 0.1346 0.5997 0.6079 0.8234 0.5677 0.5773 0.5809 0.6671 0.4685 0.1515 0.5680 0.5629 0.8089 0.5649 0.5802 0.5653 het 1430.15 113 2 219509618 . C A 1430.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.804;DP=113;Dels=0.00;FS=0.961;HRun=0;HaplotypeScore=1.7480;MQ=59.59;MQ0=0;MQRankSum=0.044;QD=12.66;ReadPosRankSum=-1.371;VQSLOD=6.5425;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,54:113:99:1460,0,1851 2 219513782 219513782 T C exonic ZNF142 synonymous SNV ZNF142:NM_001105537:exon6:c.A849G:p.P283P 0.087 0.015 0.14 . 0.27 0.043 0.1829 0.0436 0.1165 0.0001 0.2575 0.2587 0.1888 0.0715 0.19 0.046 0.26 0.043 0.26 rs4674322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1844 0.0407 0.1268 0.2694 0.0006 0.2501 0.2587 0.2242 0.0711 0.1816 0.0448 0.1611 0.2748 0 0.2434 0.2622 0.2352 het 1272.96 80 2 219513782 . T C 1272.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.473;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5925;MQ=59.42;MQ0=0;MQRankSum=-0.538;QD=15.91;ReadPosRankSum=-0.059;VQSLOD=6.0086;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,47:80:99:1303,0,870 2 219555262 219555262 G A exonic STK36 nonsynonymous SNV STK36:NM_001243313:exon14:c.G1748A:p.R583Q,STK36:NM_015690:exon14:c.G1748A:p.R583Q 0.42 0.71 0.41 0.14 0.42 0.33 0.4195 0.6489 0.3899 0.1417 0.4490 0.4412 0.3894 0.3432 0.51 0.64 0.44 0.45 0.48 rs1344642 COSM5829416;COSM3736240 1(skin);1(thyroid);1(large_intestine) Benign not_specified RCV000454828.1 MedGen CN169374 . . . . . . 0.13 0.267 T 0.145 0.261 B 0.008 0.127 B 0.120 0.190 N 1 0.090 P 0.255 0.098 N -0.77 0.735 T -0.74 0.208 N 0.111 0.120 -0.952 0.406 T 0.000 0.000 T . . . 1.878 0.286 15.45 0.976 0.340 0.202 0.207 N c -0.860 -0.789 0.178 0.178 0.706 0.609 0 2.42 0.286 1.785 0.381 0.142 0.226 0.489 0.266 0.864 0.361 8.023 0.294 Armadillo-like helical|Armadillo-type fold ENSG00000115556.9|ENSG00000135929.4|ENSG00000144580.9|ENSG00000135912.6|ENSG00000135913.6|ENSG00000135929.4|ENSG00000115556.9|ENSG00000163482.7|ENSG00000144580.9|ENSG00000135929.4|ENSG00000272555.1 Artery_Aorta|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4137 0.6542 0.4010 0.4066 0.1376 0.4448 0.4420 0.4258 0.3377 0.4773 0.6374 0.4269 0.45 0.1371 0.4441 0.4355 0.4265 het 1061.30 78 2 219555262 . G A 1061.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.764;DP=78;Dels=0.00;FS=2.240;HRun=0;HaplotypeScore=1.8273;MQ=59.20;MQ0=0;MQRankSum=0.575;QD=13.61;ReadPosRankSum=1.015;VQSLOD=6.6705;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:1091,0,993 2 219561254 219561254 G A exonic STK36 nonsynonymous SNV STK36:NM_015690:exon22:c.G2516A:p.R839Q 0.005 . 0.0058 0.001 0.013 0.0072 0.0080 0.0008 0.0020 0.0003 0.0115 0.0108 0.0055 0.0082 0.0067 0.0005 0.0099 . 0.016 rs13023540 . . . . . . . . . . . . . 0.218 0.191 T 0.964 0.539 D 0.289 0.389 B 0.001 0.415 D 1 0.810 D 2.4 0.697 M -0.46 0.700 T -0.62 0.183 N 0.277 0.343 -0.971 0.370 T 0.103 0.379 T . . . 3.226 0.447 22.8 0.999 0.974 0.829 0.418 D c 0.148 0.234 0.103 0.164 0.706 0.609 0 4.55 0.553 2.813 0.475 1.048 0.713 1.000 0.715 0.982 0.498 9.378 0.373 . . . 0.0073 0.0011 0.0025 0.0003 0 0.0134 0.0101 0.0060 0.0078 0.0080 0.0009 0 0 0 0.0152 0.0119 0.0102 het 1392.04 127 2 219561254 . G A 1392.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.097;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6643;MQ=59.60;MQ0=0;MQRankSum=-0.648;QD=10.96;ReadPosRankSum=-0.843;VQSLOD=6.4023;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,53:127:99:1422,0,1802 2 219562675 219562675 G A exonic STK36 nonsynonymous SNV STK36:NM_001243313:exon25:c.G2945A:p.G982D,STK36:NM_015690:exon25:c.G3008A:p.G1003D 0.19 0.021 0.33 0.056 0.38 0.27 0.3146 0.0658 0.3336 0.0644 0.4049 0.3806 0.3084 0.2862 0.28 0.076 0.38 0.15 0.35 rs1863704 COSM5829419;COSM1565079 8(soft_tissue);1(skin);1(large_intestine) Benign not_specified RCV000455490.1 MedGen CN169374 . . . . . . 0.517 0.073 T 0.001 0.393 B 0.001 0.363 B 0.602 0.109 N 1 0.090 P 1.955 0.530 M -0.4 0.694 T -0.45 0.148 N 0.073 0.493 -0.910 0.469 T 0.000 0.000 T . . . -1.097 0.028 0.010 0.278 0.014 0.064 0.123 N c -0.869 -0.934 0.005 0.107 0.732 0.924 0 2.01 0.254 0.900 0.279 -0.221 0.097 0.001 0.137 0.000 0.016 6.851 0.230 . ENSG00000135913.6|ENSG00000115556.9|ENSG00000115556.9|ENSG00000115556.9|ENSG00000135913.6|ENSG00000135912.6|ENSG00000135913.6|ENSG00000115556.9|ENSG00000135913.6|ENSG00000135929.4|ENSG00000144580.9|ENSG00000135912.6|ENSG00000135913.6|ENSG00000135913.6|ENSG00000135929.4|ENSG00000135913.6|ENSG00000115556.9|ENSG00000144580.9|ENSG00000135929.4 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3212 0.0622 0.3401 0.3446 0.0618 0.4005 0.3831 0.3443 0.2808 0.2773 0.0672 0.3568 0.3742 0.0593 0.4011 0.3827 0.3585 het 2914.23 242 2 219562675 . G A 2914.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.297;DP=242;DS;Dels=0.00;FS=4.782;HRun=0;HaplotypeScore=1.8268;MQ=59.29;MQ0=0;MQRankSum=0.878;QD=12.04;ReadPosRankSum=-0.366;VQSLOD=5.8326;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:130,111:242:99:2944,0,3719 2 219602499 219602499 G C exonic TTLL4 nonsynonymous SNV TTLL4:NM_014640:exon3:c.G100C:p.E34Q 0.4 0.6 0.42 0.14 0.47 0.33 0.4387 0.5813 0.4027 0.1413 0.5256 0.4732 0.4270 0.3559 0.51 0.59 0.47 0.43 0.49 rs3731877 COSM1600350 1(breast);1(liver);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . 0.075 0.632 T 0.59 0.372 P 0.159 0.330 B 0.001 0.393 N 0.966 0.588 P 1.905 0.510 L 1.75 0.262 T -2.13 0.483 N 0.136 0.238 -1.003 0.290 T 0.000 0.000 T . . . 2.157 0.320 17.22 0.997 0.789 0.939 0.594 D c 0.129 0.231 0.999 0.396 0.732 0.924 0 5.53 0.825 3.352 0.517 1.048 0.713 0.998 0.411 0.745 0.320 13.995 0.637 . ENSG00000115556.9|ENSG00000135929.4|ENSG00000135912.6|ENSG00000135929.4|ENSG00000135912.6|ENSG00000135929.4|ENSG00000144580.9|ENSG00000135929.4|ENSG00000272555.1 Artery_Aorta|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Testis|Whole_Blood|Whole_Blood|Whole_Blood 0.4362 0.5868 0.4122 0.4192 0.1376 0.5199 0.4765 0.4496 0.3513 0.4902 0.5732 0.4438 0.4603 0.1395 0.5278 0.4755 0.4714 het 1842.88 131 2 219602499 . G C 1842.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.887;DP=131;Dels=0.00;FS=1.405;HRun=0;HaplotypeScore=3.3554;MQ=59.07;MQ0=0;MQRankSum=0.739;QD=14.07;ReadPosRankSum=0.389;VQSLOD=5.6952;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,68:131:99:1873,0,1778 2 219602819 219602819 G A exonic TTLL4 synonymous SNV TTLL4:NM_014640:exon3:c.G420A:p.P140P 0.47 0.86 0.44 0.14 0.47 0.33 0.4607 0.8208 0.4147 0.1415 0.5260 0.4736 0.4368 0.3566 0.59 0.81 0.48 0.56 0.58 rs3731876 COSM3743602 1(liver);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4535 0.8308 0.4235 0.4192 0.1377 0.5201 0.4772 0.4589 0.3520 0.5610 0.8185 0.4568 0.46 0.1392 0.5270 0.4774 0.4846 het 2820.67 195 2 219602819 . G A 2820.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.209;DP=195;Dels=0.00;FS=3.231;HRun=0;HaplotypeScore=3.6615;MQ=59.06;MQ0=0;MQRankSum=1.304;QD=14.46;ReadPosRankSum=0.913;VQSLOD=5.7598;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,101:195:99:2851,0,2365 2 219610433 219610433 A G exonic TTLL4 synonymous SNV TTLL4:NM_014640:exon7:c.A1806G:p.E602E 0.49 0.92 0.44 0.14 0.47 0.33 0.4764 0.8583 0.4296 0.1473 0.5489 0.4860 0.4542 0.3754 0.6 0.85 0.48 0.56 0.57 rs586194 COSM5426940 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4538 0.8676 0.4231 0.4191 0.1373 0.5185 0.4759 0.4599 0.3510 0.5702 0.8521 0.4580 0.4633 0.1385 0.5273 0.4768 0.4825 het 377.85 57 2 219610433 . A G 377.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.292;DP=57;Dels=0.00;FS=4.703;HRun=0;HaplotypeScore=7.8707;MQ=58.52;MQ0=0;MQRankSum=0.535;QD=6.63;ReadPosRankSum=0.462;VQSLOD=3.3579;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,17:57:99:408,0,1004 2 219903258 219903258 T G exonic CFAP65 startloss CFAP65:NM_001278296:exon3:c.A1C:p.M2del,CFAP65:NM_152389:exon3:c.A1C:p.M2del,CFAP65:NM_001278295:exon4:c.A163C:p.M55L,CFAP65:NM_194302:exon4:c.A196C:p.M66L 0.59 0.55 0.62 0.43 0.76 0.62 0.6993 0.5650 0.6071 0.4350 0.8392 0.7697 0.7190 0.6442 0.7 0.56 0.77 0.56 0.71 rs6736922 COSM149069;COSM149068 1(bone);1(stomach);1(large_intestine) . . . . . . . . . . . 1.0 0.046 T 0.0 0.026 B 0.0 0.013 B 0.008 0.012 N 1 0.090 P 0 0.065 N 1.64 0.425 T -0.05 0.116 N 0.039 0.689 -0.943 0.421 T 0.000 0.000 T . . . -2.604 0.003 0.001 0.350 0.022 0.010 0.037 N c -1.854 -1.857 0.001 0.085 0.549 0.223 0 -1.96 0.071 -0.428 0.070 -2.367 0.003 0.000 0.063 0.000 0.016 1.063 0.015 . ENSG00000163501.6|ENSG00000163501.6|ENSG00000163501.6|ENSG00000181378.9 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Nerve_Tibial|Testis 0.6998 0.5673 0.6094 0.7225 0.4427 0.8388 0.7700 0.6973 0.6461 0.6976 0.5656 0.6627 0.7053 0.4478 0.8307 0.7694 0.7383 hom 2500.35 76 2 219903258 . T G 2500.35 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;QD=32.90;VQSLOD=9.9457;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2533,196,0 2 219903723 219903723 C T exonic CFAP65 synonymous SNV CFAP65:NM_194302:exon3:c.G48A:p.V16V 0.59 0.53 0.62 0.43 0.76 0.62 0.6978 0.5525 0.6058 0.4364 0.8383 0.7693 0.7196 0.6440 0.69 0.55 0.77 0.55 0.75 rs4674354 COSM149070 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6991 0.5562 0.6088 0.7221 0.4429 0.8387 0.7700 0.6966 0.6462 0.6944 0.5544 0.6635 0.7053 0.4491 0.8307 0.7690 0.7373 hom 4195.38 128 2 219903723 . C T 4195.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.001;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9452;MQ=59.53;MQ0=0;MQRankSum=0.514;QD=32.78;ReadPosRankSum=1.434;VQSLOD=9.5399;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,127:128:99:4161,310,0 2 219920037 219920037 A G exonic IHH synonymous SNV IHH:NM_002181:exon3:c.T1128C:p.T376T 0.89 0.99 0.85 0.92 0.81 0.83 0.8358 0.9624 0.8712 0.9134 0.8781 0.8012 0.8178 0.8142 0.85 0.96 0.8 0.89 0.64 rs394452 COSM442333 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8349 0.9655 0.8673 0.7484 0.9178 0.8791 0.8009 0.7975 0.8127 0.8632 0.9600 0.8699 0.7333 0.9254 0.8778 0.8019 0.8162 hom 1706.06 51 2 219920037 . A G 1706.06 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5996;MQ=59.18;MQ0=0;QD=33.45;VQSLOD=9.6250;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1739,135,0 2 219920412 219920412 A G exonic IHH synonymous SNV IHH:NM_002181:exon3:c.T753C:p.P251P 0.48 0.44 0.53 0.28 0.67 0.53 0.5990 0.4532 0.5068 0.3041 0.7416 0.6721 0.6297 0.5554 0.59 0.45 0.67 0.46 0.63 rs3731881 COSM5021361 1(bone) Benign Brachydactyly RCV000350549.1 MedGen:Orphanet:SNOMED_CT C0221357:ORPHA294937:43476002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5983 0.4541 0.5084 0.6315 0.3114 0.7419 0.6695 0.5977 0.5565 0.5944 0.4559 0.5549 0.6391 0.3220 0.7342 0.6704 0.6335 hom 2714.94 81 2 219920412 . A G 2714.94 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9443;MQ=59.54;MQ0=0;QD=33.52;VQSLOD=9.4641;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:81:99:2748,217,0 2 220037393 220037393 A G exonic CNPPD1 nonsynonymous SNV CNPPD1:NM_015680:exon8:c.T1148C:p.L383P,CNPPD1:NM_001321389:exon9:c.T1148C:p.L383P,CNPPD1:NM_001321390:exon9:c.T1148C:p.L383P,CNPPD1:NM_001321391:exon9:c.T1148C:p.L383P 1. 0.98 1. 1. 1. 1. 0.9990 0.9881 0.9999 1 1 1.0000 1 0.9999 1. 0.99 1. 0.98 0.8 rs4674361 . . . . . . . . . . . . . 0.371 0.115 T 0.0 0.026 B 0.0 0.013 B 0.031 0.252 N 1 0.090 P -0.55 0.024 N 2.48 0.147 T 0.25 0.045 N 0.022 0.117 -0.962 0.389 T 0.000 0.000 T . . . -0.037 0.090 2.242 0.419 0.030 0.001 0.006 N c -1.451 -1.371 0.892 0.258 0.732 0.924 0 2.79 0.317 0.665 0.246 -0.732 0.036 0.001 0.137 0.002 0.062 8.356 0.313 . . . 0.9993 0.9896 0.9998 1 1 1 1.0000 1 0.9999 0.9969 0.9895 1 1 1 1 0.9999 0.9980 hom 6301.73 182 2 220037393 . A G 6301.73 Mask AC=2;AF=1.00;AN=2;DP=182;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5220;MQ=59.62;MQ0=0;QD=34.62;VQSLOD=9.0939;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:6301,494,0 2 220046975 220046975 C A exonic RETREG2 nonsynonymous SNV RETREG2:NM_001321110:exon8:c.C635A:p.P212Q,RETREG2:NM_001321109:exon9:c.C635A:p.P212Q,RETREG2:NM_024293:exon9:c.C1256A:p.P419Q 0.41 0.24 0.4 0.24 0.64 0.57 0.5511 0.2904 0.3865 0.2831 0.6612 0.6318 0.5826 0.5989 0.51 0.3 0.63 0.36 0.59 rs3731900 COSM4001509 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.444 0.091 T 0.0 0.067 B 0.001 0.040 B 0.563 0.054 N 1 0.090 P 0.05 0.082 N 1.57 0.293 T 0.19 0.050 N 0.206 0.253 -0.947 0.416 T 0.000 0.000 T . . . 0.222 0.115 4.907 0.814 0.132 0.065 0.123 N c -1.031 -0.991 0.953 0.280 0.707 0.730 0 -0.369 0.119 0.747 0.258 -0.035 0.126 0.000 0.063 0.376 0.250 2.388 0.041 . ENSG00000213901.6|ENSG00000213901.6|ENSG00000158552.8|ENSG00000144567.6|ENSG00000115649.11|ENSG00000163501.6|ENSG00000213901.6|ENSG00000213901.6|ENSG00000144567.6|ENSG00000213901.6 Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.5472 0.2833 0.3909 0.6297 0.2837 0.6596 0.6270 0.5647 0.5963 0.5070 0.2842 0.4300 0.5960 0.2932 0.6464 0.6243 0.5883 het 4664.30 247 2 220046975 . C A 4664.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.550;DP=247;DS;Dels=0.00;FS=6.418;HRun=1;HaplotypeScore=4.7185;MQ=59.28;MQ0=0;MQRankSum=1.613;QD=18.88;ReadPosRankSum=-1.023;VQSLOD=3.5110;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,138:247:99:3995,0,3145 2 220083279 220083279 C T exonic ABCB6 synonymous SNV ABCB6:NM_001349828:exon1:c.G117A:p.L39L,ABCB6:NM_005689:exon1:c.G117A:p.L39L 0.74 0.41 0.84 0.86 0.91 0.8 0.8492 0.4862 0.8811 0.8419 0.9546 0.8991 0.8768 0.8021 0.76 0.49 0.9 0.7 0.77 rs1109866 COSM4133475 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8558 0.4661 0.8772 0.8320 0.8466 0.9517 0.9012 0.8620 0.7999 0.7820 0.4773 0.8711 0.8311 0.8389 0.9516 0.9015 0.8676 hom 929.18 26 2 220083279 . C T 929.18 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.74;VQSLOD=14.2258;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:75.24:962,75,0 2 220085845 220085845 A G exonic ATG9A synonymous SNV ATG9A:NM_024085:exon13:c.T2325C:p.T775T,ATG9A:NM_001077198:exon14:c.T2325C:p.T775T 0.87 0.62 0.96 0.91 0.98 0.99 0.9505 0.6702 0.9824 0.8858 0.9694 0.9825 0.9756 0.9877 0.89 0.69 0.99 0.85 0.75 rs2276633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9553 0.6619 0.9807 0.9628 0.8930 0.9670 0.9852 0.9698 0.9859 0.8822 0.6613 0.9821 0.9503 0.8782 0.9688 0.9790 0.9510 hom 744.07 29 2 220085845 . A G 744.07 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.248;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=1.238;QD=25.66;ReadPosRankSum=1.486;VQSLOD=7.3643;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,28:29:32.22:777,32,0 2 220101974 220101974 A G exonic GLB1L synonymous SNV GLB1L:NM_001286427:exon14:c.T1515C:p.P505P,GLB1L:NM_001286423:exon17:c.T1785C:p.P595P,GLB1L:NM_024506:exon17:c.T1785C:p.P595P 0.0044 0.0023 0.0058 . 0.014 0.001 0.0128 0.0044 0.0022 0 0.0310 0.0184 0.0188 0.0024 0.012 0.0043 0.016 0.011 . rs61733623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0124 0.0034 0.0027 0.0005 0 0.0323 0.0182 0.0124 0.0022 0.0153 0.0028 0.0036 0 0 0.0312 0.0210 0.0224 het 1499.67 123 2 220101974 . A G 1499.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.333;DP=123;Dels=0.00;FS=5.693;HRun=2;HaplotypeScore=2.8199;MQ=58.86;MQ0=0;MQRankSum=-0.140;QD=12.19;ReadPosRankSum=-0.100;VQSLOD=5.1037;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,53:123:99:1530,0,1895 2 220113242 220113242 T G exonic STK16 synonymous SNV STK16:NM_001330214:exon6:c.T783G:p.L261L,STK16:NM_001330215:exon6:c.T525G:p.L175L,STK16:NM_001008910:exon8:c.T879G:p.L293L,STK16:NM_001330213:exon8:c.T879G:p.L293L 0.97 0.89 0.99 1. 1. 1. 0.9926 0.9163 0.9958 1 1 0.9998 0.9978 0.9998 0.98 0.93 1. 0.98 1. rs7601549 COSM4133477 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9940 0.9163 0.9956 1 1 1 0.9997 0.9978 0.9997 0.9752 0.9131 0.9976 1 1 1 0.9997 0.9969 hom 7255.26 220 2 220113242 . T G 7255.26 Mask AC=2;AF=1.00;AN=2;DP=220;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=59.66;MQ0=0;QD=32.98;VQSLOD=8.5415;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:7255,563,0 2 220161785 220161785 G C exonic PTPRN nonsynonymous SNV PTPRN:NM_001199763:exon14:c.C2071G:p.Q691E,PTPRN:NM_001199764:exon15:c.C1888G:p.Q630E,PTPRN:NM_002846:exon15:c.C2158G:p.Q720E . . . . . . 7.424e-05 0 8.657e-05 0 0 0.0001 0 0 . . . . . rs200950374 . . . . . . . . . . . . . 0.208 0.198 T 0.074 0.226 B 0.037 0.218 B 0.000 0.629 D 1.000 0.588 D 0.295 0.102 N 2.57 0.136 T -2.79 0.590 D 0.414 0.678 -1.032 0.198 T 0.024 0.104 T 0.008 0.204 T 1.845 0.283 15.25 0.981 0.376 0.988 0.874 D c -0.041 0.152 1.000 0.747 0.696 0.567 0 4.31 0.505 7.661 0.826 0.953 0.551 1.000 0.715 1.000 0.888 16.592 0.846 PTP type protein phosphatase|Protein-tyrosine phosphatase-like;Protein-tyrosine phosphatase-like . . 6.501e-05 6.539e-05 0.0001 0 0 0 9.85e-05 0 0 3.231e-05 0 0 0 0 0 6.671e-05 0 het 738.40 68 2 220161785 . G C 738.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.953;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4824;MQ=58.63;MQ0=0;MQRankSum=-0.177;QD=10.86;ReadPosRankSum=-0.781;VQSLOD=3.5054;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,35:68:99:768,0,953 2 220250147 220250147 A G exonic DNPEP nonsynonymous SNV DNPEP:NM_001319116:exon8:c.T797C:p.V266A,DNPEP:NM_001319118:exon8:c.T731C:p.V244A,DNPEP:NM_001319119:exon8:c.T731C:p.V244A,DNPEP:NM_001319122:exon8:c.T614C:p.V205A,DNPEP:NM_012100:exon8:c.T773C:p.V258A,DNPEP:NM_001319121:exon9:c.T614C:p.V205A 1. 1. 1. 1. 1. 1. 1.0000 0.9998 1 1 1 1.0000 1 1 1. 1. 1. 1. 0.98 rs907679 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9997 1 1 1 1 1.0000 1 1 0.9999 0.9997 1 1 1 1 1 1 hom 2166.04 73 2 220250147 . A G 2166.04 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;QD=29.67;VQSLOD=8.6954;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2199,184,0 2 220283259 220283259 A G exonic DES synonymous SNV DES:NM_001927:exon1:c.A75G:p.P25P 0.89 0.61 0.96 1. 0.99 0.98 0.9652 0.6654 0.9818 0.9996 0.9978 0.9889 0.9711 0.9748 0.9 0.72 0.99 0.49 0.6 rs1318299 COSM3757962 1(thyroid);3(large_intestine) Benign\x2cBenign|Benign|Benign|Benign|Benign|Benign|Benign not_specified\x2cCardiomyopathy|not_specified|Cardiovascular_phenotype|Myofibrillar_myopathy_1|Scapuloperoneal_weakness|Dilated_Cardiomyopathy\x2c_Dominant|Myofibrillar_Myopathy\x2c_Dominant RCV000154433.1\x2cRCV000029660.1|RCV000037251.10|RCV000250669.1|RCV000299687.1|RCV000356753.1|RCV000395699.1|RCV000395883.1 MedGen\x2cMedGen:Orphanet:SNOMED_CT|MedGen|MedGen|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen|MedGen|MedGen CN169374\x2cC0878544:ORPHA167848:85898001|CN169374|CN230736|C1832370:601419:ORPHA98909|HP:0003704:C1842161|CN239310|CN239446 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9680 0.6441 0.9791 0.9883 0.9997 0.9975 0.9886 0.9778 0.9736 0.8972 0.6583 0.9844 0.9834 1 0.9977 0.9896 0.9756 hom 774.46 35 2 220283259 . A G 774.46 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=22.13;VQSLOD=11.8830;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:63.18:807,63,0 2 220283277 220283277 T C exonic DES synonymous SNV DES:NM_001927:exon1:c.T93C:p.S31S 0.87 0.54 0.95 1. 0.99 0.98 0.9611 0.6090 0.9793 0.9998 0.9977 0.9886 0.9706 0.9749 0.88 0.67 0.99 0.42 0.58 rs2017800 COSM3749630 1(thyroid);2(large_intestine) Benign\x2cBenign|Benign|Benign|Benign|Benign|Benign|Benign not_specified\x2cCardiomyopathy|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy\x2c_Dominant|Dilated_Cardiomyopathy\x2c_Dominant|Myofibrillar_myopathy_1|Scapuloperoneal_weakness RCV000154434.1\x2cRCV000029661.1|RCV000037256.10|RCV000242424.1|RCV000277612.1|RCV000312502.1|RCV000325693.1|RCV000369464.1 MedGen\x2cMedGen:Orphanet:SNOMED_CT|MedGen|MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen CN169374\x2cC0878544:ORPHA167848:85898001|CN169374|CN230736|CN239446|CN239310|C1832370:601419:ORPHA98909|HP:0003704:C1842161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9641 0.5932 0.9758 0.9882 0.9998 0.9975 0.9882 0.9759 0.9737 0.8806 0.6009 0.9808 0.9834 1 0.9980 0.9892 0.9705 hom 876.12 30 2 220283277 . T C 876.12 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.20;VQSLOD=14.0516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:72.22:909,72,0 2 220285309 220285309 C T exonic DES synonymous SNV DES:NM_001927:exon4:c.C828T:p.D276D 0.34 0.47 0.34 0.18 0.36 0.28 0.3363 0.4452 0.3020 0.1882 0.2695 0.3603 0.3448 0.2988 0.38 0.44 0.36 0.3 0.4 rs1058261 . . Benign|Benign|Benign|Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Myofibrillar_myopathy_1|Myofibrillar_Myopathy\x2c_Dominant|Scapuloperoneal_weakness|Dilated_Cardiomyopathy\x2c_Dominant RCV000037254.8|RCV000247557.1|RCV000311313.1|RCV000338231.1|RCV000390698.1|RCV000397462.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|Human_Phenotype_Ontology:MedGen|MedGen CN169374|CN230736|C1832370:601419:ORPHA98909|CN239446|HP:0003704:C1842161|CN239310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3314 0.4410 0.3103 0.4203 0.1903 0.2789 0.3562 0.3489 0.2968 0.3509 0.4309 0.3341 0.4172 0.1976 0.2734 0.3400 0.3313 het 1306.45 121 2 220285309 . C T 1306.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.317;DP=121;Dels=0.00;FS=1.556;HRun=0;HaplotypeScore=4.8557;MQ=58.87;MQ0=0;MQRankSum=0.809;QD=10.80;ReadPosRankSum=1.694;VQSLOD=5.3178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,55:121:99:1336,0,1787 2 220285666 220285666 G C exonic DES synonymous SNV DES:NM_001927:exon5:c.G1014C:p.L338L 0.34 0.47 0.34 0.18 0.36 0.28 0.3414 0.4560 0.3077 0.1923 0.2791 0.3631 0.3506 0.3053 0.39 0.45 0.36 0.3 0.38 rs12920 COSM4133480 1(thyroid) Benign|Benign|Benign|Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy\x2c_Dominant|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Myofibrillar_Myopathy\x2c_Dominant RCV000037222.8|RCV000250707.1|RCV000270208.1|RCV000293964.1|RCV000325316.1|RCV000388336.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet|MedGen CN169374|CN230736|CN239310|HP:0003704:C1842161|C1832370:601419:ORPHA98909|CN239446 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3312 0.4475 0.3100 0.4201 0.1893 0.2777 0.3551 0.3483 0.2965 0.3524 0.4369 0.3321 0.4172 0.1949 0.2731 0.3399 0.3320 het 786.90 55 2 220285666 . G C 786.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.124;DP=55;Dels=0.00;FS=14.908;HRun=0;HaplotypeScore=2.5599;MQ=59.16;MQ0=0;MQRankSum=0.025;QD=14.31;ReadPosRankSum=0.161;VQSLOD=4.1399;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,30:55:99:817,0,709 2 220286142 220286142 G A exonic DES synonymous SNV DES:NM_001927:exon6:c.G1104A:p.A368A 0.33 0.46 0.34 0.18 0.36 0.28 0.3362 0.4421 0.3024 0.1887 0.2696 0.3603 0.3436 0.2989 0.38 0.44 0.36 0.29 0.3 rs1058284 COSM4001515 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign|Benign|Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy\x2c_Dominant|Scapuloperoneal_weakness|Dilated_Cardiomyopathy\x2c_Dominant|Myofibrillar_myopathy_1 RCV000037225.9|RCV000242476.1|RCV000305879.1|RCV000342152.1|RCV000403379.1|RCV000405738.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen:OMIM:Orphanet CN169374|CN230736|CN239446|HP:0003704:C1842161|CN239310|C1832370:601419:ORPHA98909 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3317 0.4397 0.3102 0.4201 0.1902 0.2788 0.3567 0.3494 0.2971 0.3510 0.4292 0.3357 0.4133 0.1973 0.2735 0.3410 0.3327 het 1712.05 145 2 220286142 . G A 1712.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.969;DP=145;Dels=0.00;FS=0.621;HRun=0;HaplotypeScore=2.9593;MQ=59.84;MQ0=0;MQRankSum=-0.484;QD=11.81;ReadPosRankSum=-0.332;VQSLOD=6.2965;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,64:145:99:1742,0,2145 2 220315970 220315970 G A exonic SPEG synonymous SNV SPEG:NM_005876:exon5:c.G2226A:p.K742K 0.43 0.14 0.49 0.67 0.51 0.46 0.4904 0.1849 0.4769 0.6746 0.5702 0.5086 0.4989 0.4788 0.41 0.19 0.52 0.34 0.5 rs10932806 COSM4133481 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4990 0.1834 0.4839 0.4914 0.6761 0.5627 0.5138 0.4947 0.4765 0.4305 0.1949 0.5191 0.5397 0.6938 0.5662 0.4966 0.4959 het 1596.08 131 2 220315970 . G A 1596.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.506;DP=131;Dels=0.00;FS=1.457;HRun=2;HaplotypeScore=4.7304;MQ=59.28;MQ0=0;MQRankSum=1.533;QD=12.18;ReadPosRankSum=0.284;VQSLOD=5.6795;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,62:131:99:1626,0,1924 2 220333950 220333950 T C exonic SPEG synonymous SNV SPEG:NM_005876:exon13:c.T3564C:p.P1188P 0.98 0.94 0.99 1. 1. 1. 0.9953 0.9470 0.9976 1 1 0.9998 0.9977 0.9998 0.98 0.95 1. 0.97 0.89 rs10167209 COSN8992809 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9962 0.9481 0.9977 0.9999 1 1 0.9997 0.9971 0.9998 0.9851 0.9490 0.9964 1 1 1 0.9995 0.9949 hom 1578.36 52 2 220333950 . T C 1578.36 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=30.35;VQSLOD=7.8264;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1611,129,0 2 220366272 220366272 C T exonic GMPPA synonymous SNV GMPPA:NM_013335:exon4:c.C213T:p.A71A,GMPPA:NM_205847:exon4:c.C213T:p.A71A 0.004 0.0015 . . 0.018 . 0.0127 0.0017 0.0028 0 0.0325 0.0178 0.0209 0.0044 0.011 0.0016 0.016 0.011 0.016 rs41272703 . . Benign not_specified RCV000444771.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0125 0.0016 0.0030 0.0118 0 0.0337 0.0168 0.0097 0.0048 0.0183 0.0017 0.0084 0.0132 0 0.0409 0.0254 0.0163 het 2601.85 176 2 220366272 . C T 2601.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.147;DP=176;DS;Dels=0.00;FS=7.191;HRun=0;HaplotypeScore=7.3758;MQ=59.55;MQ0=0;MQRankSum=-0.110;QD=14.78;ReadPosRankSum=-0.516;VQSLOD=4.1640;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,97:176:99:2632,0,1908 2 220371035 220371035 C G exonic GMPPA synonymous SNV GMPPA:NM_013335:exon12:c.C1053G:p.A351A,GMPPA:NM_205847:exon12:c.C1053G:p.A351A 0.052 0.013 0.091 0.001 0.16 0.02 0.1081 0.0351 0.0688 0.0003 0.1401 0.1563 0.1144 0.0302 0.12 0.039 0.17 0.033 0.19 rs1046474 COSM3757967 1(large_intestine) Benign not_specified RCV000424882.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1115 0.0349 0.0827 0.1980 0.0002 0.1384 0.1567 0.1358 0.0312 0.1111 0.0392 0.0967 0.18 0.0006 0.1379 0.1562 0.1408 het 1828.58 145 2 220371035 . C G 1828.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.539;DP=145;Dels=0.00;FS=0.659;HRun=0;HaplotypeScore=1.9981;MQ=59.58;MQ0=0;MQRankSum=0.556;QD=12.61;ReadPosRankSum=-1.364;VQSLOD=5.7442;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,69:145:99:1859,0,2106 2 220379560 220379560 C G exonic ASIC4 synonymous SNV ASIC4:NM_018674:exon1:c.C495G:p.A165A,ASIC4:NM_182847:exon1:c.C495G:p.A165A 0.51 0.19 0.56 0.76 0.64 0.49 0.5954 0.2594 0.6289 0.7679 0.6664 0.6333 0.5896 0.4983 0.5 0.26 0.63 0.5 0.45 rs3731909 COSM4133487 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6025 0.2479 0.6347 0.6063 0.7713 0.6613 0.6325 0.6015 0.4972 0.5417 0.2680 0.6432 0.6167 0.7704 0.6529 0.6385 0.6076 hom 2477.75 80 2 220379560 . C G 2477.75 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.97;VQSLOD=13.6056;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2511,211,0 2 220402671 220402671 G T exonic ASIC4 nonsynonymous SNV ASIC4:NM_182847:exon9:c.G1847T:p.R616L,ASIC4:NM_018674:exon10:c.G1904T:p.R635L 0.54 0.32 0.45 0.67 0.54 0.78 0.5599 0.3506 0.4606 0.6574 0.5454 0.5483 0.5965 0.7489 0.46 0.33 0.53 0.56 0.42 rs11689281 COSM3933544 1(urinary_tract) . . . . . . . . . . . 0.2 0.203 T 0.001 0.090 B 0.002 0.104 B 0.030 0.253 N 0.010 0.411 P 0.95 0.239 L 0.03 0.622 T 0.9 0.016 N 0.045 0.069 -0.948 0.413 T 0.000 0.000 T . . . 2.152 0.320 17.19 0.983 0.394 0.666 0.329 D c -0.455 -0.396 1.000 0.747 0.447 0.083 0 2.96 0.332 1.010 0.293 1.048 0.713 0.270 0.248 0.631 0.295 6.601 0.218 . . . 0.5488 0.3321 0.4379 0.6717 0.6469 0.5284 0.5331 0.5686 0.7479 0.4781 0.3364 0.4091 0.6556 0.6178 0.5218 0.5313 0.5481 het 98.14 13 2 220402671 . G T 98.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.524;DP=13;Dels=0.00;FS=2.480;HRun=0;HaplotypeScore=0.9578;MQ=58.20;MQ0=0;MQRankSum=-0.271;QD=7.55;ReadPosRankSum=0.978;VQSLOD=4.3627;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,5:13:99:128,0,221 2 220402680 220402680 T C exonic ASIC4 nonsynonymous SNV ASIC4:NM_182847:exon9:c.T1856C:p.V619A,ASIC4:NM_018674:exon10:c.T1913C:p.V638A 0.61 0.57 0.47 0.67 0.54 0.78 0.5797 0.5781 0.4698 0.6587 0.5429 0.5483 0.6084 0.7496 0.54 0.56 0.53 0.7 0.48 rs11695248 COSM3933545 1(urinary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.260 0.037 N 1 0.090 P -0.69 0.019 N 0.16 0.610 T 0.86 0.017 N 0.01 0.022 -0.955 0.401 T 0.000 0.000 T . . . -0.788 0.041 0.045 0.589 0.059 0.031 0.079 N c -1.285 -1.224 1.000 0.747 0.447 0.083 0 2.91 0.328 -0.004 0.127 -0.328 0.075 0.000 0.063 0.013 0.120 6.656 0.220 . . . 0.5654 0.5648 0.4505 0.6751 0.6481 0.5274 0.5337 0.5741 0.7480 0.5431 0.5600 0.4246 0.6567 0.6191 0.5221 0.5330 0.5644 het 114.95 14 2 220402680 . T C 114.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.933;DP=14;Dels=0.00;FS=5.219;HRun=0;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;MQRankSum=0.533;QD=8.21;ReadPosRankSum=1.200;VQSLOD=4.3796;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,5:14:99:145,0,227 2 220404381 220404381 A G exonic CHPF synonymous SNV CHPF:NM_001195731:exon4:c.T1566C:p.Y522Y,CHPF:NM_024536:exon4:c.T2052C:p.Y684Y 0.98 0.92 0.99 1. 1. 1. 0.9934 0.9291 0.9954 1 1 0.9996 0.9967 0.9998 0.98 0.94 1. 0.86 0.93 rs1976616 COSM4133489 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9947 0.9302 0.9954 0.9984 0.9999 1 0.9997 0.9950 0.9998 0.9813 0.9354 0.9952 0.9967 1 1 0.9995 0.9949 hom 3744.27 109 2 220404381 . A G 3744.27 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=58.80;MQ0=0;QD=34.35;VQSLOD=9.5479;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3744,310,0 2 220404648 220404648 C T exonic CHPF synonymous SNV CHPF:NM_001195731:exon4:c.G1299A:p.L433L,CHPF:NM_024536:exon4:c.G1785A:p.L595L 0.31 0.19 0.48 0.27 0.45 0.22 0.4088 0.2444 0.5009 0.3019 0.5082 0.4600 0.4002 0.2565 0.39 0.25 0.46 0.16 0.3 rs1043833 COSM3757968 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4139 0.2345 0.5062 0.3202 0.3081 0.4999 0.4634 0.4123 0.2503 0.3958 0.2380 0.5312 0.3377 0.3329 0.5046 0.4613 0.4162 het 2480.27 148 2 220404648 . C T 2480.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.080;DP=148;Dels=0.00;FS=2.700;HRun=0;HaplotypeScore=3.5651;MQ=59.47;MQ0=0;MQRankSum=0.278;QD=16.76;ReadPosRankSum=0.642;VQSLOD=5.9054;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,92:148:99:2510,0,1659 2 220404726 220404726 G A exonic CHPF synonymous SNV CHPF:NM_001195731:exon4:c.C1221T:p.H407H,CHPF:NM_024536:exon4:c.C1707T:p.H569H 0.31 0.19 0.48 0.27 0.45 0.22 0.4095 0.2431 0.5036 0.3023 0.5103 0.4610 0.4039 0.2563 0.39 0.25 0.46 0.2 0.29 rs1043832 COSM3757969 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4141 0.2342 0.5067 0.3203 0.3083 0.4997 0.4637 0.4128 0.2502 0.3960 0.2379 0.5323 0.3377 0.3362 0.5043 0.4613 0.4172 het 860.95 58 2 220404726 . G A 860.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.828;DP=58;Dels=0.00;FS=1.297;HRun=0;HaplotypeScore=4.2124;MQ=59.03;MQ0=0;MQRankSum=0.362;QD=14.84;ReadPosRankSum=-0.973;VQSLOD=5.1070;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,32:58:99:891,0,710 2 220405230 220405230 G A exonic CHPF synonymous SNV CHPF:NM_001195731:exon4:c.C717T:p.H239H,CHPF:NM_024536:exon4:c.C1203T:p.H401H 0.31 0.21 0.48 0.27 0.45 0.22 0.4101 0.2555 0.5035 0.3038 0.5103 0.4598 0.4018 0.2564 0.39 0.26 0.46 0.21 0.34 rs6436154 COSM3757970 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4150 0.2468 0.5076 0.3206 0.3095 0.5001 0.4635 0.4128 0.2503 0.4004 0.2522 0.5347 0.34 0.3362 0.5049 0.4618 0.4182 het 546.75 51 2 220405230 . G A 546.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.745;DP=51;Dels=0.00;FS=1.092;HRun=0;HaplotypeScore=0.9979;MQ=57.41;MQ0=0;MQRankSum=0.934;QD=10.72;ReadPosRankSum=-0.009;VQSLOD=4.2071;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,24:51:99:577,0,718 2 220405321 220405321 T C exonic CHPF nonsynonymous SNV CHPF:NM_001195731:exon4:c.A626G:p.Q209R,CHPF:NM_024536:exon4:c.A1112G:p.Q371R 0.96 0.92 0.97 0.94 1. 1. 0.9857 0.9283 0.9666 0.9409 0.9998 0.9993 0.9952 0.9964 0.98 0.93 1. 0.97 0.9 rs6436155 COSM4133491 1(thyroid) . . . . . . . . . . . 0.844 0.028 T 0.0 0.026 B 0.001 0.040 B 0.027 0.258 N 1 0.090 P -1.095 0.010 N 2.47 0.148 T 0.58 0.026 N 0.008 0.011 -0.999 0.302 T 0.000 0.000 T . . . -1.216 0.025 0.006 0.730 0.098 0.141 0.180 N c -1.281 -1.152 1.000 0.747 0.732 0.924 0 2.6 0.300 0.476 0.217 0.016 0.142 0.013 0.187 0.200 0.217 2.888 0.053 . . . 0.9860 0.9287 0.9689 0.9978 0.9380 0.9998 0.9995 0.9912 0.9968 0.9766 0.9343 0.9714 0.9967 0.9340 1 0.9993 0.9908 hom 622.38 20 2 220405321 . T C 622.38 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.12;VQSLOD=13.3649;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:57.15:655,57,0 2 220406722 220406722 T C exonic CHPF synonymous SNV CHPF:NM_001195731:exon2:c.A18G:p.L6L,CHPF:NM_024536:exon2:c.A504G:p.L168L 0.75 0.68 0.69 0.76 0.74 0.92 0.7673 0.6991 0.7096 0.7839 0.7388 0.7507 0.7825 0.8978 0.71 0.68 0.72 0.51 0.56 rs3731912 COSM442363 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7473 0.6727 0.6831 0.7814 0.7625 0.7208 0.7321 0.7498 0.8971 0.7181 0.6769 0.6495 0.7633 0.7423 0.7259 0.7372 0.7675 het 298.30 20 2 220406722 . T C 298.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.154;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;MQRankSum=-0.189;QD=14.92;ReadPosRankSum=-1.550;VQSLOD=5.9898;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,10:20:99:328,0,280 2 220412256 220412256 T C exonic TMEM198 synonymous SNV TMEM198:NM_001005209:exon3:c.T195C:p.F65F,TMEM198:NM_001303098:exon4:c.T195C:p.F65F 0.97 0.89 0.99 1. 1. 1. 0.9905 0.9072 0.9938 1 1 0.9996 0.9949 0.9998 0.97 0.92 1. 0.97 0.97 rs8179770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9918 0.9066 0.9930 0.9980 1 1 0.9997 0.9932 0.9997 0.9758 0.9166 0.9928 0.9967 1 0.9997 0.9993 0.9949 hom 8656.20 249 2 220412256 . T C 8656.20 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5185;MQ=59.12;MQ0=0;QD=34.76;VQSLOD=6.4326;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8655,701,0 2 220414016 220414016 C T exonic TMEM198 synonymous SNV TMEM198:NM_001005209:exon4:c.C885T:p.D295D,TMEM198:NM_001303098:exon5:c.C885T:p.D295D 0.93 0.77 0.97 1. 0.99 1. 0.9779 0.8016 0.9843 1 0.9927 0.9943 0.9867 0.9993 0.91 0.75 0.99 0.85 0.93 rs6436156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9811 0.7965 0.9833 0.9955 1 0.9934 0.9939 0.9852 0.9991 0.9390 0.8015 0.9761 0.9967 1 0.9940 0.9936 0.9786 hom 3147.01 104 2 220414016 . C T 3147.01 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8066;MQ=59.56;MQ0=0;QD=30.26;VQSLOD=7.5707;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3180,265,0 2 220414019 220414019 T C exonic TMEM198 synonymous SNV TMEM198:NM_001005209:exon4:c.T888C:p.P296P,TMEM198:NM_001303098:exon5:c.T888C:p.P296P 0.39 0.41 0.52 0.38 0.46 0.22 0.4339 0.4278 0.5452 0.4147 0.5278 0.4531 0.3976 0.2570 0.17 0.16 0.18 0.28 0.37 rs13023533 COSM442365;COSM442364 2(haematopoietic_and_lymphoid_tissue);2(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4391 0.4230 0.5492 0.3236 0.4207 0.5195 0.4574 0.4249 0.2525 0.4575 0.4176 0.5680 0.3533 0.4542 0.5255 0.4627 0.4348 het 1198.15 109 2 220414019 . T C 1198.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.700;DP=109;Dels=0.00;FS=4.893;HRun=3;HaplotypeScore=2.9134;MQ=59.02;MQ0=0;MQRankSum=-0.053;QD=10.99;ReadPosRankSum=0.740;VQSLOD=4.8579;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,51:109:99:1228,0,1632 2 220417266 220417266 C T exonic OBSL1 nonsynonymous SNV OBSL1:NM_015311:exon18:c.G5300A:p.R1767Q 0.38 0.35 0.52 0.38 0.46 0.22 0.4683 0.4328 0.5761 0.4484 0.5891 0.4920 0.4460 0.2937 0.42 0.37 0.45 0.24 . rs59332477 COSM4783718;COSM3757971 2(thyroid);3(large_intestine) Benign|Benign Three_M_syndrome|not_specified RCV000294940.1|RCV000378784.1 MedGen:Orphanet|MedGen CN073943:ORPHA2616|CN169374 . . . . . . 0.049 0.398 D 1.0 0.899 D 0.997 0.850 D . . . 0.952 0.810 P 1.27 0.322 L -0.24 0.668 T -1.16 0.305 N 0.134 0.211 -0.929 0.443 T 0.000 0.000 T . . . 8.535 0.959 35 0.999 0.958 0.401 0.261 N c 0.462 0.451 1.000 0.747 0.437 0.062 0 4.61 0.566 1.184 0.315 0.932 0.445 0.775 0.292 1.000 0.888 14.290 0.657 Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.4309 0.3736 0.5472 0.3230 0.4202 0.5058 0.4570 0.4259 0.2532 0.4426 0.3671 0.5656 0.3510 0.4522 0.5249 0.4620 0.4305 het 117.28 12 2 220417266 . C T 117.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.141;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=0.831;QD=9.77;ReadPosRankSum=1.134;VQSLOD=5.6945;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,5:12:99:147,0,181 2 220419236 220419236 T C exonic OBSL1 synonymous SNV OBSL1:NM_015311:exon15:c.A4836G:p.T1612T 0.99 0.95 0.99 1. 1. 1. 0.9961 0.9595 0.9963 1 1 0.9996 0.9977 0.9998 0.99 0.96 1. 0.98 . rs10932813 . . Benign Three_M_syndrome RCV000297604.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9967 0.9598 0.9965 0.9984 1 1 0.9997 0.9962 0.9998 0.9886 0.9613 0.9952 0.9967 1 0.9997 0.9995 0.9959 hom 2131.05 71 2 220419236 . T C 2131.05 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.15;MQ0=0;QD=30.01;VQSLOD=7.8620;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2164,180,0 2 220419339 220419339 T C exonic OBSL1 nonsynonymous SNV OBSL1:NM_015311:exon15:c.A4733G:p.Q1578R 0.96 0.86 0.99 1. 0.99 1. 0.9859 0.8814 0.9887 1 0.9925 0.9946 0.9908 0.9994 0.96 0.9 0.99 0.94 . rs10932814 . . Benign Three_M_syndrome RCV000303609.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . 1.0 0.134 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P -1.14 0.009 N 1.03 0.405 T 2.11 0.006 N 0.027 0.041 -0.973 0.366 T 0.000 0.000 T . . . 0.469 0.139 7.193 0.742 0.103 0.018 0.056 N c -0.937 -0.754 1.000 0.473 0.660 0.495 0 4.37 0.517 0.134 0.156 0.016 0.142 0.009 0.180 0.985 0.512 9.828 0.399 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9872 0.8799 0.9883 0.9956 1 0.9933 0.9941 0.9889 0.9994 0.9648 0.8907 0.9869 0.9967 1 0.9940 0.9940 0.9867 hom 1218.87 41 2 220419339 . T C 1218.87 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.09;MQ0=0;QD=29.73;VQSLOD=8.4974;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1252,105,0 2 220420785 220420785 G A exonic OBSL1 synonymous SNV OBSL1:NM_001173431:exon14:c.C4566T:p.C1522C,OBSL1:NM_015311:exon14:c.C4566T:p.C1522C 0.23 0.22 0.3 0.28 0.27 0.088 0.2548 0.2374 0.3152 0.2846 0.3285 0.2740 0.2386 0.1033 0.26 0.22 0.28 0.15 . rs3087971 COSM4783661;COSM5829422;COSM3757973 1(thyroid);1(large_intestine) Benign Three_M_syndrome RCV000271198.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2591 0.2292 0.3198 0.2453 0.2868 0.3190 0.2732 0.2563 0.1032 0.2669 0.2262 0.3525 0.2715 0.3109 0.3138 0.2720 0.2372 het 820.42 67 2 220420785 . G A 820.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.588;DP=67;Dels=0.00;FS=3.385;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;MQRankSum=0.333;QD=12.25;ReadPosRankSum=0.019;VQSLOD=5.7328;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,32:67:99:850,0,887 2 220420956 220420956 A G exonic OBSL1 synonymous SNV OBSL1:NM_001173431:exon14:c.T4395C:p.D1465D,OBSL1:NM_015311:exon14:c.T4395C:p.D1465D 0.96 0.87 0.99 1. 1. 1. 0.9901 0.8883 0.9927 0.9999 1 0.9995 0.9953 0.9996 0.97 0.91 1. 0.96 . rs10932816 COSM4133493;COSM4909352 1(thyroid) Benign Three_M_syndrome RCV000388829.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9917 0.8881 0.9929 0.9983 0.9999 1 0.9995 0.9931 0.9996 0.9714 0.9014 0.9940 0.9967 1 0.9997 0.9993 0.9929 hom 657.26 23 2 220420956 . A G 657.26 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.16;MQ0=0;QD=28.58;VQSLOD=7.9961;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:63.15:690,63,0 2 220421417 220421417 C G exonic OBSL1 nonsynonymous SNV OBSL1:NM_001173431:exon13:c.G4095C:p.E1365D,OBSL1:NM_015311:exon13:c.G4095C:p.E1365D 0.72 0.6 0.69 0.72 0.74 0.91 0.7461 0.6154 0.6814 0.7179 0.7074 0.7457 0.7636 0.8970 0.7 0.64 0.73 0.76 . rs1983210 COSM442368;COSM5653953;COSM5653952 1(haematopoietic_and_lymphoid_tissue) Benign Three_M_syndrome RCV000402769.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . 0.129 0.268 T 0.592 0.448 P 0.418 0.545 B . . . 0.346 0.464 P 1.96 0.533 M -0.61 0.718 T -1.71 0.444 N 0.105 0.301 -0.967 0.377 T 0.000 0.000 T . . . 4.646 0.622 24.5 0.993 0.573 0.861 0.451 D c -0.069 -0.119 0.998 0.368 0.635 0.413 0 2.11 0.262 0.631 0.241 0.049 0.161 0.998 0.411 0.962 0.444 10.104 0.415 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000072182.8 Testis 0.7385 0.6127 0.6694 0.7696 0.7100 0.7098 0.7405 0.7424 0.8945 0.7044 0.6260 0.6352 0.7483 0.6889 0.7069 0.7503 0.7612 het 939.72 53 2 220421417 . C G 939.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.380;DP=53;Dels=0.00;FS=1.534;HRun=1;HaplotypeScore=3.2325;MQ=59.09;MQ0=0;MQRankSum=-0.317;QD=17.73;ReadPosRankSum=-1.548;VQSLOD=5.3718;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,31:53:99:970,0,606 2 220422774 220422774 A G exonic OBSL1 synonymous SNV OBSL1:NM_001173431:exon11:c.T3561C:p.P1187P,OBSL1:NM_015311:exon11:c.T3561C:p.P1187P 0.42 0.51 0.52 0.38 0.44 0.23 0.4303 0.5217 0.5442 0.4095 0.4945 0.4364 0.3998 0.2616 0.46 0.5 0.43 0.33 . rs2278201 COSM3757974;COSM4783686;COSM5829425 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) Benign Three_M_syndrome RCV000282793.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4340 0.5183 0.5506 0.3115 0.4189 0.4878 0.4399 0.4236 0.2553 0.4746 0.5246 0.5776 0.3444 0.4544 0.5040 0.4404 0.4324 het 429.71 46 2 220422774 . A G 429.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.207;DP=46;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.7102;MQ=59.19;MQ0=0;MQRankSum=0.686;QD=9.34;ReadPosRankSum=-0.461;VQSLOD=6.4965;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,18:46:99:460,0,765 2 220427347 220427347 G T exonic OBSL1 synonymous SNV OBSL1:NM_001173408:exon8:c.C2730A:p.A910A,OBSL1:NM_001173431:exon8:c.C2730A:p.A910A,OBSL1:NM_015311:exon8:c.C2730A:p.A910A 0.17 0.098 0.26 0.21 0.24 0.085 0.2684 0.1796 0.3550 0.2571 0.3544 0.3123 0.2711 0.1226 0.21 0.14 0.25 0.14 . rs10804275 COSM3757976;COSM3757975;COSM4783708 1(cervix);1(large_intestine) Benign Three_M_syndrome RCV000404526.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2239 0.1363 0.2783 0.2190 0.1998 0.2497 0.2540 0.2350 0.1018 0.2071 0.1344 0.3055 0.2351 0.2177 0.2438 0.2339 0.2031 het 258.08 21 2 220427347 . G T 258.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.458;DP=21;Dels=0.00;FS=8.280;HRun=0;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=-1.373;QD=12.29;ReadPosRankSum=-0.106;VQSLOD=4.0843;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,11:21:99:288,0,286 2 220427395 220427395 G A exonic OBSL1 synonymous SNV OBSL1:NM_001173408:exon8:c.C2682T:p.D894D,OBSL1:NM_001173431:exon8:c.C2682T:p.D894D,OBSL1:NM_015311:exon8:c.C2682T:p.D894D 0.16 0.077 0.26 0.21 0.24 0.087 0.2028 0.1190 0.2549 0.2329 0.3269 0.2708 0.2102 0.1283 0.19 0.11 0.23 0.13 . rs3183099 COSM4783647;COSM3757978;COSM3757977 1(thyroid);1(large_intestine) Benign Three_M_syndrome RCV000395194.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2159 0.1111 0.2712 0.1983 0.2031 0.2500 0.2500 0.2301 0.1030 0.2009 0.1156 0.2990 0.2086 0.2175 0.2436 0.2332 0.2020 het 136.68 11 2 220427395 . G A 136.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9089;MQ=58.88;MQ0=0;MQRankSum=1.749;QD=12.43;ReadPosRankSum=-0.387;VQSLOD=5.4302;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,6:11:99:167,0,107 2 220430203 220430203 C T exonic OBSL1 nonsynonymous SNV OBSL1:NM_001173408:exon6:c.G2168A:p.R723K,OBSL1:NM_001173431:exon6:c.G2168A:p.R723K,OBSL1:NM_015311:exon6:c.G2168A:p.R723K 0.79 0.58 0.82 0.9 0.91 0.82 0.8655 0.6345 0.8285 0.9110 0.9214 0.9012 0.8739 0.8372 0.83 0.67 0.9 0.79 . rs1039898 COSM4133495;COSM4909337;COSM4133496 1(thyroid) Benign Three_M_syndrome RCV000268251.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -0.97 0.012 N 0.57 0.570 T 1.09 0.018 N 0.042 0.024 -0.957 0.397 T 0.000 0.000 T . . . 0.415 0.134 6.745 0.694 0.087 0.032 0.081 N c -1.292 -1.168 1.000 0.747 0.731 0.878 0 2.12 0.262 -0.308 0.081 0.150 0.237 0.000 0.063 0.923 0.397 6.579 0.216 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000124006.10|ENSG00000269068.1 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.8672 0.6286 0.8316 0.8560 0.9157 0.9198 0.9033 0.8714 0.8345 0.8282 0.6314 0.8397 0.8609 0.9238 0.9199 0.9061 0.8809 het 1547.44 102 2 220430203 . C T 1547.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.788;DP=102;Dels=0.00;FS=3.106;HRun=1;HaplotypeScore=0.8941;MQ=58.70;MQ0=0;MQRankSum=-1.664;QD=15.17;ReadPosRankSum=-1.059;VQSLOD=4.1338;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,56:102:99:1577,0,1212 2 220435034 220435034 A G exonic OBSL1 synonymous SNV OBSL1:NM_001173408:exon1:c.T921C:p.L307L,OBSL1:NM_001173431:exon1:c.T921C:p.L307L,OBSL1:NM_015311:exon1:c.T921C:p.L307L 0.78 0.55 0.82 0.9 0.91 0.82 0.8644 0.6169 0.8284 0.9105 0.9214 0.9013 0.8793 0.8356 0.82 0.65 0.9 0.79 . rs10180675 COSM4133503;COSM4909380;COSM4133504 1(thyroid) Benign|Benign not_specified|Three_M_syndrome RCV000173448.2|RCV000382515.1 MedGen|MedGen:Orphanet CN169374|CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8651 0.6045 0.8302 0.8557 0.9151 0.9200 0.9033 0.8702 0.8326 0.8209 0.6058 0.8377 0.8609 0.9232 0.9198 0.9059 0.8809 het 805.24 63 2 220435034 . A G 805.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.753;DP=63;Dels=0.00;FS=0.988;HRun=0;HaplotypeScore=1.9301;MQ=58.91;MQ0=0;MQRankSum=-0.777;QD=12.78;ReadPosRankSum=-0.694;VQSLOD=6.3067;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,32:63:99:835,0,900 2 220439678 220439678 C T exonic INHA synonymous SNV INHA:NM_002191:exon2:c.C531T:p.A177A 0.15 0.081 0.25 0.21 0.2 0.082 0.1812 0.1114 0.2476 0.1897 0.2058 0.1991 0.1821 0.0925 0.17 0.11 0.2 0.11 0.2 rs12720063 COSM4001518 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1878 0.1090 0.2543 0.1777 0.1970 0.1984 0.2021 0.1939 0.0919 0.1738 0.1116 0.2656 0.1954 0.2299 0.1981 0.1928 0.1724 het 2698.46 184 2 220439678 . C T 2698.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.722;DP=184;Dels=0.00;FS=1.839;HRun=0;HaplotypeScore=3.8249;MQ=59.87;MQ0=0;MQRankSum=-0.562;QD=14.67;ReadPosRankSum=1.364;VQSLOD=5.5603;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,100:184:99:2728,0,2240 2 220473355 220473355 G A exonic STK11IP nonsynonymous SNV STK11IP:NM_052902:exon15:c.G1654A:p.V552I 0.35 0.027 0.39 0.68 0.36 0.41 0.3671 0.0698 0.4299 0.6957 0.4278 0.3457 0.3509 0.3893 0.25 0.073 0.34 0.26 . rs673951 COSM4133510;COSM4133509;COSM4133508 1(thyroid) . . . . . . . . . . . 0.253 0.169 T 0.035 0.329 B 0.009 0.283 B 0.893 0.087 N 1 0.090 P 1.32 0.331 L 3.5 0.050 T -0.32 0.123 N 0.01 0.001 -1.030 0.204 T 0.000 0.000 T . . . 0.176 0.111 4.425 0.882 0.172 0.051 0.107 N c -1.023 -1.109 0.996 0.347 0.758 0.990 0 0.456 0.158 -0.072 0.114 -0.716 0.037 0.000 0.063 0.001 0.043 4.178 0.098 . . . 0.3721 0.0647 0.4212 0.3226 0.6948 0.4415 0.3410 0.3343 0.3753 0.3047 0.0784 0.3652 0.3344 0.6822 0.4357 0.3574 0.3640 het 610.06 45 2 220473355 . G A 610.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.656;DP=45;Dels=0.00;FS=4.300;HRun=0;HaplotypeScore=0.0000;MQ=58.22;MQ0=0;MQRankSum=0.765;QD=13.56;ReadPosRankSum=-0.377;VQSLOD=5.2679;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,25:45:99:640,0,507 2 220476443 220476443 C T exonic STK11IP nonsynonymous SNV STK11IP:NM_052902:exon18:c.C2222T:p.S741F 0.84 0.47 0.94 0.99 0.97 0.98 0.9376 0.5223 0.9684 0.9965 0.9521 0.9715 0.9515 0.9878 0.84 0.57 0.97 0.75 . rs627530 . . . . . . . . . . . . . 0.054 0.388 T 0.004 0.112 B 0.007 0.121 B 0.833 0.091 N 1 0.090 P 1.6 0.409 L 3.48 0.052 T -1.77 0.418 N 0.021 0.005 -1.018 0.242 T 0.000 0.000 T . . . 1.670 0.262 14.24 0.975 0.339 0.039 0.091 N c -0.989 -1.045 0.774 0.237 0.706 0.609 0 1.31 0.207 0.046 0.138 -0.536 0.048 0.000 0.063 0.000 0.016 3.445 0.070 . . . 0.9442 0.5154 0.9670 0.9611 0.9963 0.9534 0.9720 0.9564 0.9873 0.8456 0.5283 0.9642 0.9570 0.9975 0.9547 0.9720 0.9517 hom 3866.49 110 2 220476443 . C T 3866.49 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5616;MQ=59.37;MQ0=0;QD=35.15;VQSLOD=9.7989;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3866,316,0 2 220494118 220494118 A C exonic SLC4A3 nonsynonymous SNV SLC4A3:NM_001326559:exon4:c.A470C:p.H157P,SLC4A3:NM_005070:exon4:c.A470C:p.H157P,SLC4A3:NM_201574:exon4:c.A470C:p.H157P 0.95 0.84 0.98 1. 1. 1. 0.9838 0.8448 0.9906 0.9980 0.9997 0.9975 0.9937 0.9980 0.95 0.85 1. 0.84 0.59 rs597306 COSM4133512 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.013 N 1 0.090 P -1.545 0.005 N 1.61 0.284 T 1.17 0.011 N 0.146 0.172 -0.917 0.459 T 0.000 0.000 T . . . -1.438 0.018 0.003 0.672 0.080 0.004 0.022 N c -1.315 -1.147 1.000 0.747 0.646 0.450 0 4.11 0.472 0.617 0.239 0.066 0.173 0.002 0.151 0.042 0.158 12.257 0.538 . . . 0.9845 0.8374 0.9886 0.9950 0.9973 0.9977 0.9959 0.9921 0.9955 0.9532 0.8384 0.9881 1 0.9994 0.9997 0.9990 0.9928 hom 783.95 22 2 220494118 . A C 783.95 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=7;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.63;VQSLOD=14.2744;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:63.20:817,63,0 2 220500426 220500426 A G exonic SLC4A3 synonymous SNV SLC4A3:NM_001326559:exon14:c.A2085G:p.A695A,SLC4A3:NM_005070:exon14:c.A2004G:p.A668A,SLC4A3:NM_201574:exon14:c.A2085G:p.A695A 0.91 0.69 0.97 0.99 0.98 0.98 0.9636 0.7101 0.9817 0.9959 0.9947 0.9875 0.9748 0.9871 0.9 0.72 0.98 0.79 0.76 rs639214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9687 0.7001 0.9819 0.9950 0.9961 0.9949 0.9855 0.9806 0.9867 0.9094 0.7054 0.9761 0.9868 0.9981 0.9943 0.9882 0.9785 hom 259.15 10 2 220500426 . A G 259.15 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;QD=25.91;VQSLOD=6.7077;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:292,24,0 2 220502367 220502367 A C exonic SLC4A3 nonsynonymous SNV SLC4A3:NM_001326559:exon17:c.A2681C:p.D894A,SLC4A3:NM_005070:exon17:c.A2600C:p.D867A,SLC4A3:NM_201574:exon17:c.A2681C:p.D894A 0.68 0.47 0.79 0.81 0.76 0.66 0.7442 0.4906 0.7907 0.8356 0.8572 0.7674 0.7461 0.6834 0.68 0.5 0.76 0.56 0.68 rs635311 COSM5021363 1(bone) . . . . . . . . . . . 0.215 0.193 T 0.0 0.026 B 0.0 0.013 B 0.000 0.003 N 1 0.090 P -0.075 0.048 N -1.12 0.776 T 0.11 0.057 N 0.091 0.092 -0.924 0.450 T 0.000 0.000 T . . . -0.286 0.069 0.715 0.856 0.155 0.081 0.139 N c -1.230 -1.235 0.979 0.299 0.646 0.450 0 -2.34 0.063 0.313 0.190 0.035 0.151 0.000 0.063 0.052 0.166 2.111 0.034 Bicarbonate transporter\x2c C-terminal ENSG00000267919.1 Heart_Atrial_Appendage 0.7528 0.4854 0.7866 0.7538 0.8371 0.8624 0.7642 0.7569 0.6800 0.7138 0.4935 0.7601 0.7351 0.8405 0.8489 0.7881 0.7951 het 741.60 43 2 220502367 . A C 741.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.086;DP=43;Dels=0.00;FS=3.179;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.484;QD=17.25;ReadPosRankSum=-0.584;VQSLOD=5.7882;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,26:43:99:772,0,420 2 220505265 220505265 T C exonic SLC4A3 synonymous SNV SLC4A3:NM_001326559:exon21:c.T3472C:p.L1158L,SLC4A3:NM_005070:exon21:c.T3391C:p.L1131L,SLC4A3:NM_201574:exon21:c.T3472C:p.L1158L 0.69 0.43 0.81 0.81 0.82 0.71 0.7946 0.4559 0.8230 0.8377 0.8923 0.8422 0.7969 0.7337 0.72 0.48 0.84 0.63 0.8 rs684428 COSM1157765 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8030 0.4490 0.8197 0.8252 0.8404 0.8971 0.8391 0.8167 0.7315 0.7451 0.4556 0.7890 0.7914 0.8445 0.8835 0.8596 0.8589 het 2466.27 219 2 220505265 . T C 2466.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.205;DP=219;Dels=0.00;FS=2.345;HRun=0;HaplotypeScore=3.8645;MQ=58.90;MQ0=0;MQRankSum=-0.296;QD=11.26;ReadPosRankSum=0.639;VQSLOD=5.9361;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:125,94:219:99:2496,0,3440 2 223161889 223161889 A G exonic PAX3 synonymous SNV PAX3:NM_000438:exon2:c.T129C:p.G43G,PAX3:NM_001127366:exon2:c.T129C:p.G43G,PAX3:NM_013942:exon2:c.T129C:p.G43G,PAX3:NM_181457:exon2:c.T129C:p.G43G,PAX3:NM_181458:exon2:c.T129C:p.G43G,PAX3:NM_181459:exon2:c.T129C:p.G43G,PAX3:NM_181460:exon2:c.T129C:p.G43G,PAX3:NM_181461:exon2:c.T129C:p.G43G 0.9 0.84 0.91 1. 0.85 0.96 0.8872 0.8461 0.9401 1 0.8455 0.8536 0.8891 0.9548 0.85 0.84 0.85 0.9 0.35 rs12623857 . . Benign|Benign|Benign not_specified|Waardenburg_syndrome|Craniofacial_deafness_hand_syndrome RCV000176002.3|RCV000326158.1|RCV000362250.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet CN169374|C3266898:ORPHA3440:47434006|C1852510:122880:ORPHA1529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8843 0.8355 0.9374 0.9262 0.9999 0.8285 0.8409 0.8925 0.9545 0.8514 0.8433 0.9165 0.9305 1 0.8283 0.8402 0.8523 het 302.14 20 2 223161889 . A G 302.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.578;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.395;QD=15.11;ReadPosRankSum=0.465;VQSLOD=11.5206;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,13:20:99:332,0,168 2 223423362 223423362 A G exonic SGPP2 synonymous SNV SGPP2:NM_001320834:exon5:c.A561G:p.P187P,SGPP2:NM_152386:exon5:c.A945G:p.P315P,SGPP2:NM_001320833:exon6:c.A561G:p.P187P 0.88 0.63 0.92 1. 0.94 0.99 0.9305 0.6979 0.9539 0.9999 0.9723 0.9367 0.9393 0.9818 0.86 0.71 0.93 0.9 0.91 rs4674664 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9360 0.6928 0.9488 0.9685 1 0.9737 0.9329 0.9364 0.9805 0.8776 0.6953 0.9427 0.9636 0.9994 0.9714 0.9385 0.9481 hom 2405.71 79 2 223423362 . A G 2405.71 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.178;DP=79;Dels=0.00;FS=3.507;HRun=0;HaplotypeScore=3.8545;MQ=59.23;MQ0=0;MQRankSum=-0.977;QD=30.45;ReadPosRankSum=1.110;VQSLOD=3.8929;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,78:79:99:2439,174,0 2 223436607 223436607 C T exonic FARSB nonsynonymous SNV FARSB:NM_005687:exon17:c.G1753A:p.V585I 0.84 0.62 0.86 0.97 0.88 0.93 0.8819 0.6766 0.9027 0.9767 0.9245 0.8842 0.8874 0.9202 0.81 0.68 0.87 0.84 0.86 rs7185 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.537 N 1.000 0.198 P -0.655 0.021 N . . . 0.62 0.024 N 0.068 0.112 -0.961 0.389 T 0.000 0.000 T . . . 1.329 0.224 12.42 0.666 0.079 0.303 0.238 N c -0.809 -0.552 0.969 0.291 0.707 0.730 0 4.33 0.509 0.741 0.257 0.154 0.240 1.000 0.715 0.992 0.562 9.401 0.374 . ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000116120.8|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Frontal_Cortex_BA9|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid 0.8857 0.6712 0.8958 0.9472 0.9738 0.9224 0.8761 0.8878 0.9196 0.8309 0.6712 0.8974 0.9233 0.9759 0.9253 0.8766 0.8829 hom 1317.51 47 2 223436607 . C T 1317.51 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.03;VQSLOD=13.3528;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1351,105,0 2 223559089 223559089 T C exonic MOGAT1 nonsynonymous SNV MOGAT1:NM_058165:exon4:c.T487C:p.S163P 0.23 0.37 0.23 0.12 0.23 0.16 0.2135 0.3467 0.1989 0.1197 0.2076 0.2191 0.2310 0.1708 0.26 0.34 0.22 0.21 . rs1868024 . . . . . . . . . . . . . 0.531 0.070 T 0.022 0.174 B 0.104 0.295 B 0.000 0.497 D 0.000 0.497 P 1.46 0.370 L -2.93 0.918 D -1.65 0.395 N 0.085 0.080 -1.104 0.037 T 0.000 0.000 T . . . 0.914 0.181 10.16 0.742 0.103 0.803 0.397 D c -0.352 -0.230 0.025 0.137 0.554 0.246 0 2.96 0.332 2.804 0.474 1.051 0.754 1.000 0.715 0.803 0.337 7.694 0.276 . . . 0.2077 0.3406 0.1986 0.2580 0.1231 0.1968 0.2143 0.2126 0.1643 0.2356 0.3263 0.1766 0.2583 0.1420 0.2013 0.2063 0.1973 hom 1691.74 57 2 223559089 . T C 1691.74 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.334;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8937;MQ=57.96;MQ0=0;MQRankSum=1.246;QD=29.68;ReadPosRankSum=0.577;VQSLOD=7.4587;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,56:57:99:1725,100,0 2 223783841 223783841 G A exonic ACSL3 synonymous SNV ACSL3:NM_203372:exon6:c.G726A:p.P242P,ACSL3:NM_004457:exon7:c.G726A:p.P242P 0.023 0.011 0.035 . 0.054 0.02 0.0406 0.0196 0.0320 0.0001 0.0233 0.0576 0.0529 0.0187 0.042 0.019 0.054 . 0.033 rs13000358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0401 0.0184 0.0305 0.0717 5.8e-05 0.0250 0.0573 0.0505 0.0201 0.0360 0.0199 0.0453 0.0728 0 0.0289 0.0498 0.0346 het 834.76 98 2 223783841 . G A 834.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.616;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.76;MQ0=0;MQRankSum=-0.638;QD=8.52;ReadPosRankSum=0.183;VQSLOD=5.6483;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,34:98:99:865,0,1658 2 223917629 223917629 C T exonic KCNE4 synonymous SNV KCNE4:NM_080671:exon2:c.C234T:p.G78G 0.72 0.72 0.74 0.65 0.7 0.82 0.7145 0.7171 0.7480 0.6428 0.7904 0.6895 0.7011 0.7977 0.7 0.71 0.7 0.55 0.47 rs3795886 COSM3933547 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7169 0.7166 0.7524 0.5616 0.6518 0.7836 0.6958 0.6853 0.7986 0.7219 0.7126 0.7350 0.5596 0.6799 0.7841 0.7170 0.7664 hom 3932.07 134 2 223917629 . C T 3932.07 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.71;MQ0=0;QD=29.34;VQSLOD=8.4681;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:134:99:3931,325,0 2 223917812 223917812 T C exonic KCNE4 synonymous SNV KCNE4:NM_080671:exon2:c.T417C:p.P139P 0.97 0.98 0.97 0.99 0.94 0.95 0.9478 0.9802 0.9589 0.9973 0.9737 0.9340 0.9226 0.9407 0.96 0.98 0.94 0.97 0.86 rs10201907 COSM4133517 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9482 0.9814 0.9595 0.8332 0.9968 0.9730 0.9416 0.9170 0.9409 0.9616 0.9785 0.9702 0.8444 0.9957 0.9690 0.9492 0.9481 hom 2395.17 75 2 223917812 . T C 2395.17 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=31.94;VQSLOD=9.1482;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2428,205,0 2 223917983 223917983 T G exonic KCNE4 nonsynonymous SNV KCNE4:NM_080671:exon2:c.T588G:p.D196E 0.67 0.48 0.75 0.69 0.71 0.81 0.7033 0.5228 0.7719 0.6912 0.7928 0.6898 0.6987 0.7918 0.64 0.53 0.7 0.58 0.49 rs12621643 COSM3733650 2(pancreas) . . . . . Acute lymphoblastic leukemia (childhood) 0.68 . 19684603 rs12621643 3E-6 . . . 0.0 0.026 B 0.001 0.040 B 0.000 0.497 N 1.000 0.200 P 1.245 0.315 L . . . . . . 0.054 0.036 -0.965 0.383 T 0.000 0.000 T . . . -0.584 0.051 0.136 0.839 0.145 0.136 0.178 N c -1.705 -1.751 1.000 0.747 0.497 0.185 0 -10.7 0.002 -1.765 0.019 -1.164 0.017 0.000 0.063 0.961 0.442 14.340 0.660 . . . 0.7106 0.5204 0.7760 0.5553 0.6964 0.7836 0.6970 0.6821 0.7924 0.6710 0.5197 0.7518 0.5497 0.7195 0.7859 0.7189 0.7643 hom 2136.95 67 2 223917983 . T G 2136.95 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.03;MQ0=0;QD=31.89;VQSLOD=9.8392;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2170,169,0 2 224462310 224462310 G A exonic SCG2 nonsynonymous SNV SCG2:NM_003469:exon2:c.C1691T:p.P564L 0.0062 0.0008 0.011 . 0.021 0.001 0.0152 0.0028 0.0056 0.0001 0.0256 0.0219 0.0209 0.0062 0.019 0.0032 0.026 0.022 0.0082 rs36043001 . . . . . . . . . . . . . 0.148 0.248 T 0.001 0.067 B 0.001 0.040 B 0.910 0.074 N 1 0.090 N 0.57 0.153 N 4.81 0.016 T -1.23 0.312 N 0.039 0.019 -0.911 0.468 T 0.001 0.004 T . . . 0.772 0.168 9.293 0.683 0.084 0.109 0.161 N c -0.929 -0.833 0.915 0.264 0.615 0.372 0 0.4 0.155 0.663 0.246 0.045 0.158 0.004 0.165 0.150 0.205 4.706 0.121 . . . 0.0157 0.0028 0.0062 0.0204 5.799e-05 0.0285 0.0223 0.0184 0.0058 0.0178 0.0037 0.0095 0.0265 0 0.0318 0.0249 0.0173 het 1228.52 86 2 224462310 . G A 1228.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.054;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9654;MQ=58.91;MQ0=0;MQRankSum=0.220;QD=14.29;ReadPosRankSum=-0.272;VQSLOD=5.8166;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,44:86:99:1259,0,1033 2 224463164 224463164 G A exonic SCG2 synonymous SNV SCG2:NM_003469:exon2:c.C837T:p.N279N 0.021 . 0.043 . 0.058 0.018 0.0472 0.0097 0.0307 0 0.0281 0.0677 0.0518 0.0314 0.048 0.01 0.068 0.011 0.049 rs16864975 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0482 0.0093 0.0322 0.1235 5.799e-05 0.0333 0.0660 0.0560 0.0326 0.0398 0.0116 0.0323 0.1192 0.0006 0.0329 0.0613 0.0328 het 2617.95 214 2 224463164 . G A 2617.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.977;DP=214;DS;Dels=0.00;FS=10.034;HRun=0;HaplotypeScore=0.9332;MQ=59.37;MQ0=0;MQRankSum=1.247;QD=12.23;ReadPosRankSum=1.383;VQSLOD=4.4998;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,103:214:99:2648,0,3055 2 226273689 226273689 T C exonic NYAP2 synonymous SNV NYAP2:NM_020864:exon2:c.T93C:p.Y31Y 0.76 0.95 0.78 0.59 0.82 0.58 0.7825 0.9352 0.7526 0.6188 0.8401 0.8189 0.7661 0.6285 0.86 0.93 0.82 0.89 . rs2048936 COSM3933550 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7808 0.9365 0.7632 0.7709 0.6112 0.8407 0.8209 0.7934 0.6308 0.8426 0.9385 0.7703 0.7417 0.6072 0.8461 0.8188 0.8092 hom 3543.14 121 2 226273689 . T C 3543.14 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8267;MQ=58.53;MQ0=0;QD=29.28;VQSLOD=8.5885;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3542,298,0 2 226447735 226447735 C T exonic NYAP2 synonymous SNV NYAP2:NM_020864:exon4:c.C1602T:p.S534S 0.53 0.19 0.71 0.53 0.69 0.71 0.6458 0.2648 0.7838 0.5153 0.6740 0.6676 0.6561 0.7139 0.55 0.31 0.66 0.52 . rs3828256 COSM442407 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6489 0.2498 0.7696 0.6219 0.5186 0.6756 0.6632 0.6567 0.7130 0.5474 0.2596 0.7261 0.5993 0.5279 0.6667 0.6717 0.6415 het 223.47 21 2 226447735 . C T 223.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.345;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.458;QD=10.64;ReadPosRankSum=0.035;VQSLOD=11.5582;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,11:21:99:253,0,272 2 226491770 226491770 A C exonic NYAP2 nonsynonymous SNV NYAP2:NM_020864:exon5:c.A1756C:p.T586P 0.93 0.99 0.98 0.85 0.95 0.89 0.9377 0.9884 0.9851 0.8322 0.9040 0.9481 0.9282 0.9015 0.96 0.99 0.95 0.91 . rs3748993 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.211 P -1.445 0.006 N 1.56 0.296 T 0.65 0.023 N 0.036 0.022 -0.964 0.385 T 0.000 0.000 T . . . 0.811 0.171 9.532 0.934 0.226 0.046 0.101 N c -0.979 -0.741 0.007 0.115 0.526 0.212 0 3.9 0.441 1.165 0.312 0.014 0.141 0.393 0.259 0.963 0.446 6.550 0.215 Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter\x2c C-terminal domain . . 0.9374 0.9888 0.9831 0.9774 0.8274 0.9062 0.9455 0.9511 0.9010 0.9443 0.9888 0.9773 0.9834 0.8178 0.9084 0.9388 0.9296 het 118.05 26 2 226491770 . A C 118.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.584;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=-1.098;QD=4.54;ReadPosRankSum=0.578;VQSLOD=4.0698;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,7:26:99:148,0,479 2 227872182 227872182 G A exonic COL4A4 synonymous SNV COL4A4:NM_000092:exon48:c.C4932T:p.F1644F 0.51 0.64 0.47 0.4 0.42 0.59 0.4657 0.5990 0.5413 0.4012 0.4741 0.4116 0.4688 0.5826 0.46 0.57 0.41 0.43 0.39 rs2228557 COSM3757991 3(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000247000.1|RCV000291655.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4679 0.6077 0.5311 0.4589 0.3937 0.4837 0.4100 0.4391 0.5773 0.4858 0.6004 0.5108 0.4536 0.3558 0.4811 0.4339 0.4806 het 2719.02 237 2 227872182 . G A 2719.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.018;DP=237;DS;Dels=0.00;FS=3.812;HRun=5;HaplotypeScore=9.0450;MQ=59.63;MQ0=0;MQRankSum=0.588;QD=11.47;ReadPosRankSum=-1.213;VQSLOD=4.2228;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:139,98:237:99:2749,0,3780 2 227872995 227872995 T C exonic COL4A4 synonymous SNV COL4A4:NM_000092:exon47:c.A4548G:p.V1516V 0.64 0.78 0.54 0.6 0.52 0.69 0.5602 0.7258 0.5896 0.5621 0.5382 0.5027 0.5513 0.6802 0.59 0.73 0.51 0.59 0.52 rs2228555 COSM3757992 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000250409.1|RCV000284418.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5580 0.7354 0.5823 0.5466 0.5560 0.5450 0.4995 0.5280 0.6738 0.5804 0.7231 0.5730 0.5298 0.5467 0.5375 0.5137 0.5602 het 780.29 87 2 227872995 . T C 780.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.441;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6270;MQ=58.69;MQ0=0;MQRankSum=0.295;QD=8.97;ReadPosRankSum=0.031;VQSLOD=6.2301;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,32:87:99:810,0,1412 2 227886773 227886773 A G exonic COL4A4 nonsynonymous SNV COL4A4:NM_000092:exon44:c.T4207C:p.S1403P 0.53 0.69 0.48 0.41 0.43 0.56 0.4763 0.6357 0.5471 0.4040 0.4884 0.4269 0.48 0.5640 0.48 0.61 0.42 0.43 0.44 rs3752895 COSM3757993 2(haematopoietic_and_lymphoid_tissue);1(skin);2(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000249698.1|RCV000407614.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . 0.776 0.033 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.196 P -1.98 0.002 N -2.62 0.900 D 3.22 0.001 N 0.087 0.117 -0.950 0.411 T 0.000 0.000 T . . . 2.673 0.382 20.6 0.334 0.020 0.009 0.036 N c -0.649 -0.389 0.045 0.146 0.554 0.246 0 5.63 0.861 3.744 0.546 0.138 0.222 0.999 0.424 0.850 0.355 11.077 0.471 . . . 0.4778 0.6432 0.5388 0.5081 0.3962 0.4958 0.4221 0.4551 0.5583 0.5001 0.6292 0.5263 0.4801 0.3596 0.4928 0.4417 0.4847 het 2879.95 208 2 227886773 . A G 2879.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.100;DP=208;Dels=0.00;FS=0.560;HRun=4;HaplotypeScore=0.9992;MQ=59.23;MQ0=0;MQRankSum=1.491;QD=13.85;ReadPosRankSum=0.709;VQSLOD=6.4120;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:106,102:208:99:2910,0,2721 2 227892619 227892619 C T exonic COL4A4 synonymous SNV COL4A4:NM_000092:exon42:c.G4080A:p.P1360P 0.49 0.57 0.48 0.4 0.44 0.55 0.4700 0.5349 0.5431 0.4058 0.4930 0.4322 0.4754 0.5567 0.45 0.53 0.42 0.39 0.23 rs2228556 COSM1752390 1(haematopoietic_and_lymphoid_tissue);3(urinary_tract);1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000253144.1|RCV000329823.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4723 0.5411 0.5347 0.5096 0.3980 0.4991 0.4263 0.4519 0.5508 0.4760 0.5329 0.5096 0.4867 0.3622 0.5012 0.4464 0.4888 het 666.52 57 2 227892619 . C T 666.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.597;DP=57;Dels=0.00;FS=4.107;HRun=0;HaplotypeScore=0.9916;MQ=59.60;MQ0=0;MQRankSum=-0.344;QD=11.69;ReadPosRankSum=-0.857;VQSLOD=6.3278;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,26:57:99:697,0,799 2 227892720 227892720 C T exonic COL4A4 nonsynonymous SNV COL4A4:NM_000092:exon42:c.G3979A:p.V1327M 0.49 0.57 0.48 0.4 0.44 0.56 0.4879 0.5479 0.5562 0.4240 0.5097 0.4513 0.4898 0.5698 0.45 0.53 0.42 0.39 0.17 rs2229813 COSM1752392 1(urinary_tract) Likely pathogenic|Benign|Benign not_provided|not_specified|Alport_syndrome RCV000171504.1|RCV000246048.1|RCV000271269.1 MedGen|MedGen|MedGen:Orphanet CN221809|CN169374|C1567741:ORPHA63 . . . . . . 0.58 0.060 T 0.0 0.026 B 0.004 0.093 B . . . 1.000 0.090 P 0.81 0.209 L -3.25 0.935 D 2.0 0.004 N 0.07 0.100 -0.943 0.421 T 0.000 0.000 T . . . 1.690 0.264 14.35 0.577 0.057 0.010 0.037 N c -1.126 -0.963 0.000 0.054 0.554 0.283 0 1.6 0.226 -0.164 0.099 -0.211 0.100 0.131 0.231 0.947 0.422 8.033 0.295 . . . 0.4705 0.5371 0.5319 0.5093 0.3954 0.4967 0.4229 0.4500 0.5549 0.4747 0.5328 0.5072 0.4833 0.3611 0.4983 0.4449 0.4866 het 189.69 29 2 227892720 . C T 189.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.767;DP=29;Dels=0.00;FS=3.799;HRun=1;HaplotypeScore=0.0000;MQ=57.89;MQ0=0;MQRankSum=-0.619;QD=6.54;ReadPosRankSum=-1.262;VQSLOD=3.2243;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,10:29:99:220,0,521 2 227896886 227896886 C T exonic COL4A4 synonymous SNV COL4A4:NM_000092:exon39:c.G3684A:p.K1228K 0.5 0.56 0.48 0.4 0.44 0.57 0.4716 0.5289 0.5441 0.4077 0.4930 0.4320 0.4756 0.5717 0.45 0.52 0.42 0.4 0.45 rs2229812 COSM3757994 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000244180.1|RCV000286046.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4743 0.5366 0.5348 0.5139 0.4003 0.4990 0.4262 0.4524 0.5668 0.4753 0.5306 0.5119 0.4834 0.3649 0.4989 0.4461 0.4928 het 1417.51 108 2 227896886 . C T 1417.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.280;DP=108;Dels=0.00;FS=0.778;HRun=3;HaplotypeScore=8.1126;MQ=58.42;MQ0=0;MQRankSum=-1.920;QD=13.13;ReadPosRankSum=0.998;VQSLOD=2.7113;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,54:108:99:1447,0,1495 2 227896976 227896976 C T exonic COL4A4 synonymous SNV COL4A4:NM_000092:exon39:c.G3594A:p.G1198G 0.49 0.56 0.48 0.4 0.44 0.57 0.4746 0.5311 0.5464 0.4129 0.4955 0.4345 0.4785 0.5743 0.45 0.52 0.42 0.4 0.39 rs10203363 COSM3757995 1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000252184.1|RCV000322357.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4731 0.5357 0.5333 0.5140 0.3998 0.4982 0.4242 0.4504 0.5665 0.4741 0.5293 0.5132 0.4834 0.3661 0.4983 0.4443 0.4929 het 226.96 22 2 227896976 . C T 226.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.137;DP=22;Dels=0.00;FS=8.073;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=-0.267;QD=10.32;ReadPosRankSum=0.467;VQSLOD=4.8624;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,9:22:99:257,0,416 2 227915832 227915832 G A exonic COL4A4 nonsynonymous SNV COL4A4:NM_000092:exon33:c.C3011T:p.P1004L 0.55 0.59 0.52 0.48 0.49 0.64 0.5205 0.5643 0.5631 0.4551 0.5056 0.4862 0.5156 0.6434 0.52 0.58 0.49 0.46 0.54 rs1800517 COSM4001525 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid) Benign|Benign not_specified|Alport_syndrome RCV000251893.1|RCV000389933.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . 0.001 0.784 D 0.634 0.384 P 0.2 0.352 B . . . 0.000 0.588 P 2.26 0.646 M -4.09 0.966 D -7.89 0.962 D 0.125 0.333 -1.162 0.007 T 0.000 0.000 T . . . 2.709 0.387 20.9 0.983 0.396 0.963 0.682 D c 0.024 0.032 0.164 0.176 0.638 0.428 0 4.64 0.572 4.515 0.600 0.127 0.214 1.000 0.715 0.160 0.208 12.480 0.550 . . . 0.5206 0.5718 0.5531 0.5743 0.4515 0.5083 0.4801 0.5027 0.6402 0.5096 0.5640 0.5430 0.5199 0.4610 0.5034 0.4818 0.5226 het 1956.57 141 2 227915832 . G A 1956.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.534;DP=141;Dels=0.00;FS=2.184;HRun=0;HaplotypeScore=2.5975;MQ=59.44;MQ0=0;MQRankSum=1.024;QD=13.88;ReadPosRankSum=-0.559;VQSLOD=6.5641;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,74:141:99:1987,0,1558 2 227954599 227954599 G A exonic COL4A4 nonsynonymous SNV COL4A4:NM_000092:exon21:c.C1444T:p.P482S 0.55 0.51 0.61 0.52 0.5 0.64 0.5344 0.5081 0.6808 0.4908 0.5299 0.4944 0.5268 0.6342 0.51 0.53 0.5 0.47 0.5 rs2229814 COSM3757996 1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000248568.1|RCV000299491.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . 0.753 0.035 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.085 0.274 L -2.62 0.900 D -0.03 0.075 N 0.024 0.017 -0.903 0.477 T 0.000 0.000 T . . . -0.178 0.078 1.217 0.343 0.021 0.011 0.041 N c -0.759 -0.714 0.000 0.029 0.554 0.246 0 0.339 0.152 0.668 0.246 -0.194 0.103 0.528 0.269 0.602 0.289 1.222 0.018 . . . 0.5405 0.5100 0.6685 0.5476 0.4868 0.5326 0.4920 0.5110 0.6307 0.5106 0.5112 0.6367 0.4834 0.4931 0.5191 0.5025 0.5298 het 610.22 58 2 227954599 . G A 610.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.570;DP=58;Dels=0.00;FS=1.065;HRun=0;HaplotypeScore=3.8891;MQ=59.29;MQ0=0;MQRankSum=0.249;QD=10.34;ReadPosRankSum=-0.889;VQSLOD=5.8076;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,27:58:99:640,0,828 2 228111435 228111435 T C exonic COL4A3 nonsynonymous SNV COL4A3:NM_000091:exon7:c.T422C:p.L141P 0.8 0.6 0.88 0.9 0.84 0.85 0.8302 0.6316 0.8951 0.9136 0.8238 0.8308 0.8296 0.8597 0.77 0.64 0.83 0.75 0.81 rs10178458 . . Benign|Benign not_specified|Alport_syndrome RCV000245465.1|RCV000399711.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . 1.0 0.010 T 0.004 0.201 B 0.004 0.145 B 0.142 0.182 N 0.380 0.327 P -1.39 0.006 N -3.4 0.943 D 2.9 0.002 N 0.129 0.147 -0.919 0.457 T 0.000 0.000 T . . . -0.830 0.039 0.037 0.563 0.054 0.003 0.017 N c -1.418 -1.148 0.042 0.145 0.638 0.428 0 3.62 0.405 0.487 0.219 -3.534 0.001 0.290 0.250 0.029 0.146 13.158 0.588 . . . 0.8339 0.6275 0.8876 0.7736 0.9175 0.8236 0.8350 0.8172 0.8569 0.7805 0.6284 0.8720 0.7781 0.9280 0.8270 0.8347 0.8180 hom 1287.22 42 2 228111435 . T C 1287.22 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.65;VQSLOD=13.7220;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1320,102,0 2 228113175 228113175 A G exonic COL4A3 nonsynonymous SNV COL4A3:NM_000091:exon9:c.A485G:p.E162G 0.8 0.6 0.88 0.9 0.84 0.85 0.8304 0.6310 0.8949 0.9138 0.8248 0.8310 0.83 0.8600 0.77 0.64 0.83 0.76 0.77 rs6436669 . . Benign|Benign not_specified|Alport_syndrome RCV000242416.1|RCV000295878.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . 0.828 0.029 T 0.001 0.167 B 0.002 0.145 B 0.328 0.142 N 1.000 0.182 P 1.355 0.339 L -3.17 0.931 D 1.25 0.010 N 0.05 0.031 -0.962 0.388 T 0.000 0.000 T . . . 0.832 0.173 9.659 0.541 0.050 0.018 0.055 N c -0.959 -0.824 0.003 0.097 0.638 0.428 0 1.24 0.203 0.228 0.175 -0.325 0.076 0.989 0.365 0.181 0.213 8.831 0.341 . . . 0.8341 0.6277 0.8877 0.7737 0.9177 0.8241 0.8351 0.8170 0.8571 0.7808 0.6290 0.8723 0.7781 0.9284 0.8286 0.8343 0.8184 hom 1936.81 65 2 228113175 . A G 1936.81 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.80;VQSLOD=14.0386;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1970,150,0 2 228128540 228128540 C T exonic COL4A3 synonymous SNV COL4A3:NM_000091:exon21:c.C1195T:p.L399L 0.77 0.67 0.79 0.86 0.74 0.82 0.7667 0.6715 0.8657 0.8900 0.8015 0.7335 0.7617 0.8091 0.72 0.68 0.73 0.64 0.61 rs10205042 . . Benign|Benign not_specified|Alport_syndrome RCV000245175.1|RCV000363958.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7679 0.6689 0.8469 0.6356 0.8832 0.7972 0.7361 0.7443 0.8062 0.7419 0.6775 0.8242 0.6589 0.8912 0.8013 0.7453 0.7597 hom 1253.89 39 2 228128540 . C T 1253.89 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.15;VQSLOD=13.3984;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:96.31:1287,96,0 2 228135631 228135631 C T exonic COL4A3 nonsynonymous SNV COL4A3:NM_000091:exon25:c.C1721T:p.P574L 0.4 0.15 0.44 0.48 0.47 0.55 0.4694 0.1902 0.4875 0.4665 0.4677 0.4785 0.4496 0.5890 0.39 0.21 0.47 0.39 0.42 rs28381984 COSM3758001;COSM3758002 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000247531.1|RCV000296144.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . 0.005 0.632 D 0.999 0.899 D 0.944 0.971 D 0.001 0.414 D 0.000 0.588 P 3.25 0.900 M -3.16 0.930 D -4.75 0.802 D 0.277 0.335 -1.332 0.000 T 0.000 0.000 T . . . 5.446 0.739 26.1 0.998 0.892 0.603 0.309 D c 0.436 0.323 1.000 0.467 0.638 0.428 0 5.8 0.921 2.569 0.454 0.935 0.490 0.189 0.240 0.226 0.223 16.968 0.861 . . . 0.4692 0.1828 0.4712 0.4330 0.4626 0.4644 0.4821 0.4465 0.5851 0.3967 0.1974 0.4474 0.4702 0.4578 0.4653 0.4817 0.4559 hom 2076.34 65 2 228135631 . C T 2076.34 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.62;MQ0=0;QD=31.94;VQSLOD=9.5574;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2109,163,0 2 228194480 228194480 A T exonic MFF nonsynonymous SNV MFF:NM_001277061:exon3:c.A19T:p.S7C,MFF:NM_020194:exon3:c.A19T:p.S7C 0.27 0.096 0.24 0.24 0.37 0.45 0.3291 0.1295 0.2007 0.2330 0.2929 0.3673 0.3293 0.4558 0.27 0.12 0.35 . 0.36 rs3211097 COSM3758003 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000437096.1 MedGen CN169374 . . . . . . 0.006 0.632 D 0.0 0.026 B 0.001 0.040 B 0.013 0.291 N 0.862 0.810 P 1.355 0.339 L 1.33 0.617 T -0.33 0.805 N 0.069 0.313 -0.989 0.328 T 0.000 0.000 T . . . 2.982 0.419 22.2 0.939 0.234 0.859 0.448 D c -0.209 -0.003 1.000 0.747 0.651 0.465 0 4.8 0.610 3.478 0.527 1.199 0.960 1.000 0.715 1.000 0.888 10.393 0.432 . . . 0.3226 0.1215 0.2000 0.3772 0.2246 0.2976 0.3679 0.3250 0.4486 0.2736 0.1279 0.2218 0.4329 0.2082 0.3087 0.3557 0.3050 het 1520.37 140 2 228194480 . A T 1520.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.142;DP=140;Dels=0.00;FS=3.070;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;MQRankSum=0.769;QD=10.86;ReadPosRankSum=-0.401;VQSLOD=5.7733;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,65:140:99:1550,0,1988 2 228194481 228194481 G T exonic MFF nonsynonymous SNV MFF:NM_001277061:exon3:c.G20T:p.S7I,MFF:NM_020194:exon3:c.G20T:p.S7I 0.27 0.096 0.25 0.24 0.37 0.45 0.3292 0.1295 0.2005 0.2331 0.2932 0.3673 0.3293 0.4560 0.27 0.12 0.35 . 0.36 rs3211098 COSM3758004 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000419895.1 MedGen CN169374 . . . . . . 0.065 0.373 T 0.079 0.230 B 0.035 0.214 B 0.013 0.291 N 0.962 0.588 P 1.355 0.339 L 1.35 0.617 T -0.43 0.868 N 0.033 0.321 -0.965 0.382 T 0.000 0.000 T . . . 3.603 0.490 23.2 0.970 0.313 0.821 0.411 D c -0.284 -0.114 1.000 0.446 0.651 0.465 0 3.1 0.346 2.147 0.416 1.048 0.713 1.000 0.715 1.000 0.888 7.081 0.243 . ENSG00000168958.15 Muscle_Skeletal 0.3225 0.1217 0.1998 0.3770 0.2246 0.2976 0.3678 0.3249 0.4484 0.2737 0.1281 0.2230 0.4329 0.2084 0.3087 0.3556 0.3050 het 1517.35 141 2 228194481 . G T 1517.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.968;DP=141;Dels=0.00;FS=2.153;HRun=1;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;MQRankSum=-0.056;QD=10.76;ReadPosRankSum=-0.271;VQSLOD=6.6608;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,65:141:99:1547,0,2027 2 228416712 228416712 A G exonic AGFG1 synonymous SNV AGFG1:NM_001135189:exon10:c.A1296G:p.T432T,AGFG1:NM_001135188:exon11:c.A1416G:p.T472T,AGFG1:NM_004504:exon11:c.A1416G:p.T472T,AGFG1:NM_001135187:exon12:c.A1488G:p.T496T 0.77 0.86 0.72 0.69 0.71 0.82 0.7469 0.8243 0.7705 0.7023 0.6690 0.7223 0.7753 0.8336 0.76 0.83 0.72 0.81 0.77 rs13426457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7430 0.8188 0.7542 0.7416 0.6950 0.6848 0.7233 0.7534 0.8320 0.7459 0.8214 0.7590 0.7252 0.6986 0.6883 0.7206 0.7429 hom 7360.23 239 2 228416712 . A G 7360.23 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.659;DP=239;DS;Dels=0.00;FS=3.029;HRun=2;HaplotypeScore=4.7185;MQ=59.73;MQ0=0;MQRankSum=-0.899;QD=30.80;ReadPosRankSum=0.256;VQSLOD=4.2063;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,238:239:99:7334,586,0 2 228476140 228476140 C T exonic C2orf83 stopgain C2orf83:NM_020161:exon3:c.G423A:p.W141X 0.31 0.23 0.34 0.41 0.28 0.36 0.3089 0.2282 0.3444 0.4049 0.2539 0.3004 0.3370 0.3391 0.28 0.23 0.31 0.33 0.34 rs2176186 . . . . . . . . . . . . . . . . . . . . . . . . . 1.000 0.210 P . . . . . . . . . . . . . . . . . . . . 6.078 0.837 28.1 0.483 0.040 0.000 0.001 N c -0.657 -1.067 0.000 0.035 0.428 0.059 0 -1.83 0.074 0.786 0.263 -1.231 0.015 0.002 0.151 0.000 0.016 4.089 0.094 . . . 0.3098 0.2258 0.3323 0.3395 0.3932 0.2532 0.3022 0.3348 0.3345 0.2892 0.2340 0.3580 0.3233 0.3812 0.2642 0.3109 0.3180 hom 7320.77 236 2 228476140 . C T 7320.77 Mask AC=2;AF=1.00;AN=2;DP=236;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;QD=31.02;VQSLOD=9.4878;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,236:236:99:7320,575,0 2 228476253 228476253 C G exonic C2orf83 nonsynonymous SNV C2orf83:NM_020161:exon3:c.G310C:p.E104Q 0.84 0.59 0.93 1. 0.9 0.89 0.8834 0.6491 0.9336 0.9995 0.9454 0.8955 0.8756 0.8620 0.82 0.67 0.89 0.83 0.93 rs2138402 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 0.14 0.609 T -0.05 0.078 N 0.01 0.001 -0.960 0.392 T 0.000 0.000 T . . . -1.127 0.027 0.009 0.045 0.000 0.000 0.001 N c -1.561 -1.582 0.000 0.029 0.403 0.052 0 0.457 0.158 0.295 0.187 0.035 0.151 0.000 0.063 0.001 0.043 2.505 0.043 . . . 0.8882 0.6446 0.9260 0.7850 0.9995 0.9403 0.8997 0.8787 0.8609 0.8485 0.6654 0.9153 0.8113 0.9988 0.9424 0.9095 0.9073 hom 4806.22 144 2 228476253 . C G 4806.22 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4718;MQ=59.58;MQ0=0;QD=33.38;VQSLOD=8.8005;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4806,379,0 2 228758554 228758554 A T exonic DAW1 nonsynonymous SNV DAW1:NM_178821:exon5:c.A361T:p.T121S,DAW1:NM_001330004:exon6:c.A316T:p.T106S 0.14 0.15 0.13 0.005 0.24 0.17 0.1833 0.1525 0.1021 0.0027 0.2953 0.2184 0.2152 0.1658 0.19 0.16 0.21 0.12 0.24 rs1715828 COSM3758006 1(breast);2(large_intestine) . . . . . . . . . . . 0.073 0.682 T 0.646 0.386 P 0.497 0.457 P 0.000 0.843 D 0.000 0.588 P 2.18 0.615 M -1.48 0.812 T -3.43 0.673 D 0.247 0.433 -1.139 0.014 T 0.000 0.000 T . . . 4.591 0.615 24.4 0.996 0.716 0.969 0.716 D c 0.349 0.447 0.999 0.379 0.638 0.428 0 5.74 0.900 8.454 0.901 1.083 0.853 1.000 0.715 0.696 0.308 14.864 0.699 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000123977.5 Testis 0.1814 0.1480 0.1067 0.2269 0.0018 0.2923 0.2147 0.1953 0.1622 0.1917 0.1543 0.1364 0.1755 0.0025 0.2966 0.2112 0.2187 het 1015.80 85 2 228758554 . A T 1015.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.541;DP=85;Dels=0.00;FS=0.888;HRun=0;HaplotypeScore=3.3626;MQ=59.56;MQ0=0;MQRankSum=0.646;QD=11.95;ReadPosRankSum=-2.079;VQSLOD=5.4073;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,43:85:99:1046,0,1043 2 228855866 228855866 G C exonic SPHKAP nonsynonymous SNV SPHKAP:NM_030623:exon10:c.C4722G:p.S1574R,SPHKAP:NM_001142644:exon11:c.C4809G:p.S1603R 0.18 0.03 0.19 0.23 0.3 0.17 0.2227 0.0604 0.1486 0.2293 0.2761 0.2663 0.2390 0.1751 0.2 0.067 0.27 0.16 0.23 rs16824283 . . . . . . . . . . . . . 0.026 0.469 D 0.966 0.542 D 0.787 0.558 P 0.001 0.437 D 1 0.090 P 1.95 0.526 M 3.28 0.065 T -1.87 0.437 N 0.07 0.058 -1.030 0.204 T 0.000 0.000 T . . . 2.489 0.360 19.39 0.990 0.504 0.325 0.244 N c -0.561 -0.756 0.000 0.012 0.487 0.133 0 -2.19 0.066 0.085 0.146 -0.752 0.034 0.449 0.263 0.001 0.043 13.899 0.631 A-kinase anchor 110kDa\x2c C-terminal . . 0.2251 0.0565 0.1580 0.2170 0.2308 0.2722 0.2714 0.2515 0.1758 0.2031 0.0611 0.1535 0.2086 0.25 0.2665 0.2665 0.2357 het 741.37 64 2 228855866 . G C 741.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.892;DP=64;Dels=0.00;FS=3.540;HRun=1;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;MQRankSum=-0.119;QD=11.58;ReadPosRankSum=0.384;VQSLOD=5.8141;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,26:64:99:771,0,1098 2 231036860 231036860 C T exonic SP110 nonsynonymous SNV SP110:NM_004509:exon16:c.G1737A:p.M579I,SP110:NM_080424:exon16:c.G1737A:p.M579I 0.04 0.0076 0.048 0.001 0.092 0.062 0.0606 0.0129 0.0312 0.0035 0.0311 0.0852 0.0551 0.0537 0.06 0.017 0.083 0.043 0.11 rs3948463 COSM4986678 1(breast);2(soft_tissue) Likely benign|Benign Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified RCV000390437.1|RCV000455142.1 MedGen:OMIM:Orphanet|MedGen C1856128:235550:ORPHA79124|CN169374 . . . . . . 0.481 0.121 T 0.002 0.205 B 0.001 0.127 B . . . 0.999 0.214 N 0.84 0.212 L -2.18 0.867 D -0.96 0.320 N 0.07 0.095 -1.040 0.172 T 0.019 0.080 T . . . 0.702 0.161 8.842 0.639 0.072 0.095 0.151 N c -0.968 -0.914 0.280 0.190 0.672 0.522 0 2.68 0.307 -0.229 0.090 -0.067 0.120 0.005 0.169 0.110 0.193 7.669 0.274 Zinc finger\x2c FYVE/PHD-type|Zinc finger\x2c PHD-finger|Zinc finger\x2c RING/FYVE/PHD-type ENSG00000135899.12 Nerve_Tibial 0.0600 0.0127 0.0357 0.1467 0.0029 0.0314 0.0817 0.0698 0.0546 0.0538 0.0138 0.0394 0.1523 0.0019 0.0332 0.0852 0.0703 het 2343.70 188 2 231036860 . C T 2343.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.608;DP=188;DS;Dels=0.00;FS=2.962;HRun=2;HaplotypeScore=4.9439;MQ=58.92;MQ0=0;MQRankSum=0.913;QD=12.47;ReadPosRankSum=1.005;VQSLOD=5.4045;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,89:188:99:2374,0,2843 2 231037616 231037616 A G exonic SP110 synonymous SNV SP110:NM_004509:exon15:c.T1650C:p.G550G,SP110:NM_080424:exon15:c.T1650C:p.G550G 0.04 0.0076 0.049 0.001 0.092 0.063 0.0606 0.0129 0.0312 0.0039 0.0311 0.0851 0.0554 0.0538 0.06 0.017 0.083 0.043 0.11 rs35495464 . . Likely benign|Benign Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified RCV000276529.1|RCV000454724.1 MedGen:OMIM:Orphanet|MedGen C1856128:235550:ORPHA79124|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0600 0.0124 0.0357 0.1467 0.0031 0.0316 0.0817 0.0696 0.0546 0.0535 0.0134 0.0395 0.1523 0.0019 0.0332 0.0849 0.0694 het 1574.44 121 2 231037616 . A G 1574.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.262;DP=121;Dels=0.00;FS=1.480;HRun=0;HaplotypeScore=0.7887;MQ=59.81;MQ0=0;MQRankSum=0.948;QD=13.01;ReadPosRankSum=2.864;VQSLOD=5.0103;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,57:121:99:1604,0,1568 2 231042276 231042276 A G exonic SP110 nonsynonymous SNV SP110:NM_004509:exon14:c.T1568C:p.M523T,SP110:NM_004510:exon14:c.T1568C:p.M523T,SP110:NM_080424:exon14:c.T1568C:p.M523T,SP110:NM_001185015:exon15:c.T1586C:p.M529T 0.32 0.21 0.35 0.17 0.5 0.45 0.4256 0.2385 0.2766 0.1578 0.4097 0.5177 0.4119 0.4233 0.42 0.26 0.5 0.35 0.48 rs1135791 COSM3758010;COSM3758011 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified RCV000362881.1|RCV000455391.1 MedGen:OMIM:Orphanet|MedGen C1856128:235550:ORPHA79124|CN169374 . . . . . . 0.275 0.213 T 0.0 0.026 B 0.0 0.013 B 0.966 0.082 N 1 0.090 P -0.85 0.015 N -0.46 0.700 T -0.59 0.176 N 0.007 0.020 -0.948 0.413 T 0.000 0.000 T . . . -0.874 0.037 0.029 0.285 0.015 0.011 0.039 N c -1.770 -1.729 0.003 0.097 0.732 0.924 0 -0.782 0.104 -0.542 0.061 -0.216 0.099 0.000 0.063 0.000 0.016 0.294 0.002 SAND domain|SAND domain-like . . 0.4202 0.2360 0.2902 0.5247 0.1539 0.4098 0.5154 0.4426 0.4270 0.3925 0.2479 0.2931 0.5199 0.1608 0.4041 0.4982 0.4490 het 2634.14 238 2 231042276 . A G 2634.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.642;DP=238;DS;Dels=0.00;FS=0.481;HRun=0;HaplotypeScore=11.0684;MQ=58.85;MQ0=0;MQRankSum=-0.847;QD=11.07;ReadPosRankSum=-1.124;VQSLOD=3.4947;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,109:238:99:2664,0,3584 2 231050715 231050715 A G exonic SP110 nonsynonymous SNV SP110:NM_004509:exon11:c.T1274C:p.L425S,SP110:NM_004510:exon11:c.T1274C:p.L425S,SP110:NM_080424:exon11:c.T1274C:p.L425S,SP110:NM_001185015:exon12:c.T1292C:p.L431S 0.9 0.85 0.87 0.99 0.87 0.94 0.8869 0.8502 0.9278 0.9968 0.8592 0.8670 0.8711 0.9161 0.86 0.85 0.87 0.96 0.84 rs3948464 . . Uncertain significance|Benign Mycobacterium_tuberculosis\x2c_susceptibility_to|not_specified RCV000005877.5|RCV000455916.1 MedGen:OMIM|MedGen C1834752:607948|CN169374 . . . . . . 0.818 0.123 T 0.0 0.026 B 0.001 0.040 B 0.733 0.064 N 1 0.090 P 0.205 0.094 N 1.09 0.648 T 0.88 0.017 N 0.038 0.206 -1.008 0.274 T 0.000 0.000 T . . . -1.667 0.013 0.002 0.266 0.013 0.000 0.003 N c -1.761 -1.798 0.004 0.104 0.706 0.609 0 -1.77 0.075 -0.354 0.077 -1.586 0.009 0.000 0.063 0.000 0.016 3.598 0.075 . ENSG00000135899.12 Brain_Putamen_basal_ganglia 0.8893 0.8514 0.9234 0.8995 0.9980 0.8628 0.8646 0.8790 0.9171 0.8712 0.8462 0.9033 0.9007 0.9988 0.8578 0.8731 0.8640 hom 7295.88 250 2 231050715 . A G 7295.88 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.07;MQ0=0;QD=29.18;VQSLOD=8.9606;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7294,593,0 2 231072709 231072709 C T exonic SP110 nonsynonymous SNV SP110:NM_004509:exon8:c.G895A:p.G299R,SP110:NM_004510:exon8:c.G895A:p.G299R,SP110:NM_080424:exon8:c.G895A:p.G299R,SP110:NM_001185015:exon9:c.G913A:p.G305R 0.8 0.96 0.78 0.9 0.63 0.69 0.7087 0.9176 0.8210 0.8933 0.6118 0.6282 0.7112 0.7172 0.7 0.9 0.6 0.78 0.32 rs1365776 . . Benign|Benign Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified RCV000335389.1|RCV000454767.1 MedGen:OMIM:Orphanet|MedGen C1856128:235550:ORPHA79124|CN169374 . . . . . . 0.69 0.066 T 0.0 0.026 B 0.0 0.040 B 0.327 0.041 N 1 0.090 P -0.205 0.041 N 1.22 0.658 T 1.23 0.030 N 0.091 0.172 -0.995 0.312 T 0.000 0.000 T . . . 2.354 0.344 18.52 0.669 0.079 0.001 0.006 N c -1.401 -1.392 0.982 0.303 0.672 0.522 0 -0.142 0.127 -0.235 0.090 -0.283 0.084 0.001 0.137 0.003 0.074 4.017 0.091 . . . 0.6856 0.9197 0.8066 0.6550 0.8967 0.5855 0.5954 0.6773 0.7067 0.7055 0.9136 0.8189 0.6887 0.9017 0.5848 0.5887 0.6541 hom 470.26 16 2 231072709 . C T 470.26 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.94;MQ0=0;QD=29.39;VQSLOD=8.4713;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:39.12:503,39,0 2 231077110 231077110 C T exonic SP110 nonsynonymous SNV SP110:NM_004509:exon5:c.G619A:p.E207K,SP110:NM_004510:exon5:c.G619A:p.E207K,SP110:NM_080424:exon5:c.G619A:p.E207K,SP110:NM_001185015:exon6:c.G637A:p.E213K 0.13 0.068 0.048 0.17 0.089 0.27 0.1142 0.0793 0.0414 0.1829 0.0575 0.0978 0.1156 0.2402 0.088 0.078 0.094 0.098 0.066 rs9061 COSM3927760;COSM149088 1(stomach);3(soft_tissue);1(prostate) Benign|Benign Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified RCV000350537.1|RCV000455434.1 MedGen:OMIM:Orphanet|MedGen C1856128:235550:ORPHA79124|CN169374 . . . . . . 0.196 0.207 T 0.02 0.208 B 0.008 0.127 B 0.145 0.029 N 1 0.090 P 0.695 0.181 N 2.88 0.103 T -0.69 0.197 N 0.071 0.501 -0.952 0.407 T 0.000 0.000 T . . . 1.165 0.206 11.56 0.603 0.063 0.012 0.043 N c -1.783 -1.823 1.000 0.436 0.707 0.730 0 -4.55 0.032 -0.444 0.069 -0.879 0.027 0.000 0.063 0.020 0.134 5.213 0.146 . . . 0.1107 0.0752 0.0428 0.1636 0.1784 0.0585 0.0966 0.1049 0.2376 0.0958 0.0752 0.0406 0.1821 0.1807 0.0570 0.1083 0.1059 het 1173.04 117 2 231077110 . C T 1173.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.334;DP=117;Dels=0.00;FS=1.476;HRun=2;HaplotypeScore=2.6766;MQ=59.16;MQ0=0;MQRankSum=0.362;QD=10.03;ReadPosRankSum=-0.848;VQSLOD=6.2047;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,49:117:99:1203,0,1822 2 231077676 231077676 G A exonic SP110 nonsynonymous SNV SP110:NM_004509:exon4:c.C383T:p.A128V,SP110:NM_004510:exon4:c.C383T:p.A128V,SP110:NM_080424:exon4:c.C383T:p.A128V,SP110:NM_001185015:exon5:c.C401T:p.A134V 0.097 0.017 0.049 0.076 0.087 0.27 0.1040 0.0288 0.0390 0.0977 0.0601 0.0991 0.1013 0.2377 0.071 0.028 0.094 0.054 0.074 rs11556887 COSM3927761;COSM149089 1(stomach);3(soft_tissue);5(prostate);1(large_intestine) Benign|Benign Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified RCV000264680.1|RCV000455477.1 MedGen:OMIM:Orphanet|MedGen C1856128:235550:ORPHA79124|CN169374 . . . . . . 0.06 0.518 T 0.762 0.764 P 0.282 0.686 B 0.029 0.255 N 1 0.090 N 1.895 0.505 L 3.03 0.089 T -1.72 0.488 N 0.03 0.459 -1.053 0.137 T 0.002 0.005 T . . . 1.924 0.292 15.74 0.996 0.751 0.057 0.115 N c -0.521 -0.750 0.984 0.306 0.707 0.730 0 -1.09 0.093 0.128 0.155 1.048 0.713 0.000 0.063 0.091 0.185 1.460 0.022 . . . 0.1025 0.0272 0.0407 0.1638 0.0988 0.0615 0.0983 0.0982 0.2353 0.0779 0.0255 0.0418 0.1821 0.0909 0.0595 0.1098 0.1 het 1249.29 126 2 231077676 . G A 1249.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.777;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1119;MQ=59.19;MQ0=0;MQRankSum=0.662;QD=9.92;ReadPosRankSum=-0.497;VQSLOD=6.4706;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,53:126:99:1279,0,2047 2 231077725 231077725 A G exonic SP110 nonsynonymous SNV SP110:NM_004509:exon4:c.T334C:p.W112R,SP110:NM_004510:exon4:c.T334C:p.W112R,SP110:NM_080424:exon4:c.T334C:p.W112R,SP110:NM_001185015:exon5:c.T352C:p.W118R 0.95 1. 0.9 1. 0.88 0.95 0.9091 0.9804 0.9379 0.9977 0.8665 0.8788 0.8982 0.9375 0.91 0.98 0.88 0.99 0.91 rs1129411 . . Benign not_specified RCV000456033.1 MedGen CN169374 . . . . . . 0.358 0.120 T 0.0 0.102 B 0.0 0.063 B 0.207 0.034 N 1 0.090 P 0 0.065 N 3.11 0.082 T 1.45 0.010 N 0.008 0.618 -1.026 0.218 T 0.000 0.000 T . . . -0.707 0.045 0.069 0.478 0.039 0.020 0.060 N c -1.717 -1.706 0.985 0.307 0.707 0.730 0 -0.859 0.101 -0.189 0.095 -3.917 0.001 0.000 0.063 0.000 0.016 6.193 0.196 . ENSG00000135899.12 Brain_Putamen_basal_ganglia 0.9096 0.9816 0.9361 0.9248 0.9983 0.8690 0.8767 0.8988 0.9381 0.9136 0.9746 0.9234 0.9238 0.9981 0.8638 0.8822 0.8783 hom 3502.18 118 2 231077725 . A G 3502.18 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.693;DP=118;Dels=0.00;FS=4.234;HRun=0;HaplotypeScore=7.2666;MQ=59.13;MQ0=0;MQRankSum=0.683;QD=29.68;ReadPosRankSum=0.515;VQSLOD=3.7168;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,115:118:99:3468,252,0 2 231110582 231110582 C T exonic SP140 synonymous SNV SP140:NM_001278451:exon7:c.C669T:p.S223S,SP140:NM_001278453:exon7:c.C660T:p.S220S,SP140:NM_007237:exon7:c.C669T:p.S223S 0.11 0.11 0.11 0.001 0.17 0.15 0.1510 0.1199 0.0999 0.0049 0.1227 0.1811 0.1520 0.1715 0.16 0.11 0.18 0.087 0.12 rs28445040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1493 0.1189 0.1050 0.1873 0.0024 0.1218 0.1849 0.1629 0.1710 0.1448 0.1147 0.0990 0.2086 0.0006 0.1311 0.1820 0.1480 het 904.63 80 2 231110582 . C T 904.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.862;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;MQRankSum=0.000;QD=11.31;ReadPosRankSum=-0.811;VQSLOD=6.9954;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,37:80:99:935,0,1158 2 231149108 231149108 G A exonic SP140 nonsynonymous SNV SP140:NM_001278453:exon13:c.G1204A:p.E402K,SP140:NM_001278452:exon14:c.G1366A:p.E456K,SP140:NM_001278451:exon15:c.G1465A:p.E489K,SP140:NM_007237:exon16:c.G1546A:p.E516K 0.97 0.99 0.96 1. 0.92 0.99 0.9399 0.9878 0.9766 0.9986 0.9005 0.9111 0.9491 0.9874 0.94 0.98 0.92 0.99 0.92 rs4972946 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.090 P -2.085 0.002 N 0.83 0.551 T 1.07 0.018 N 0.024 0.071 -0.990 0.327 T 0.000 0.000 T . . . -0.675 0.046 0.082 0.115 0.002 0.000 0.002 N c -1.700 -1.644 0.000 0.050 0.732 0.924 0 0.407 0.155 -0.741 0.049 0.169 0.246 0.000 0.063 0.000 0.016 4.141 0.096 . . . 0.9410 0.9863 0.9749 0.9706 0.9992 0.8983 0.9095 0.9461 0.9874 0.9362 0.9844 0.9737 0.9735 1 0.8918 0.9094 0.9255 het 529.37 57 2 231149108 . G A 529.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.862;DP=57;Dels=0.00;FS=3.715;HRun=4;HaplotypeScore=1.8663;MQ=58.60;MQ0=0;MQRankSum=0.076;QD=9.29;ReadPosRankSum=-0.617;VQSLOD=5.7099;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,25:57:99:559,0,704 2 231256812 231256812 A G exonic SP140L synonymous SNV SP140L:NM_001308163:exon10:c.A795G:p.A265A,SP140L:NM_001308162:exon11:c.A900G:p.A300A,SP140L:NM_138402:exon12:c.A975G:p.A325A 0.2 0.2 0.22 0.069 0.32 0.22 0.2632 0.2372 0.1713 0.0668 0.3578 0.3049 0.2873 0.2374 0.28 0.21 0.31 0.23 . rs7559665 COSM3758013;COSM3758012 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2596 0.2316 0.1783 0.2683 0.0608 0.3463 0.3070 0.2656 0.2349 0.2827 0.2332 0.1826 0.3079 0.0621 0.3489 0.3245 0.2908 het 1117.03 101 2 231256812 . A G 1117.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.610;DP=101;Dels=0.00;FS=1.624;HRun=0;HaplotypeScore=1.4679;MQ=58.88;MQ0=0;MQRankSum=0.921;QD=11.06;ReadPosRankSum=-0.485;VQSLOD=6.6324;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,46:101:99:1147,0,1560 2 231331896 231331896 G A exonic SP100 synonymous SNV SP100:NM_001206703:exon12:c.G1182A:p.S394S,SP100:NM_001080391:exon13:c.G1257A:p.S419S,SP100:NM_001206701:exon13:c.G1257A:p.S419S,SP100:NM_001206702:exon13:c.G1257A:p.S419S,SP100:NM_003113:exon13:c.G1257A:p.S419S,SP100:NM_001206704:exon14:c.G1152A:p.S384S 0.66 0.61 0.65 0.48 0.76 0.85 0.7189 0.6273 0.6043 0.4844 0.7247 0.7541 0.7247 0.8347 0.71 0.63 0.75 0.64 0.83 rs1050224 COSM4001534;COSM4001535;COSM4001533 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7136 0.6268 0.6109 0.7789 0.4823 0.7229 0.7521 0.7162 0.8308 0.7024 0.6164 0.6435 0.7517 0.4932 0.7314 0.7693 0.7210 hom 6088.68 194 2 231331896 . G A 6088.68 Mask AC=2;AF=1.00;AN=2;DP=194;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8997;MQ=58.68;MQ0=0;QD=31.38;VQSLOD=8.9257;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:194:99:6088,475,0 2 231333763 231333763 A G exonic SP100 nonsynonymous SNV SP100:NM_001206703:exon13:c.A1213G:p.M405V,SP100:NM_001080391:exon14:c.A1297G:p.M433V,SP100:NM_001206701:exon14:c.A1297G:p.M433V,SP100:NM_001206702:exon14:c.A1297G:p.M433V,SP100:NM_003113:exon14:c.A1297G:p.M433V,SP100:NM_001206704:exon15:c.A1192G:p.M398V 0.18 0.069 0.17 0.064 0.32 0.31 0.2623 0.0916 0.1195 0.0656 0.1987 0.3289 0.2660 0.3293 0.25 0.1 0.32 0.12 0.26 rs12724 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.205 0.041 N 2.48 0.782 T -0.04 0.191 N 0.305 0.365 -1.039 0.175 T 0.000 0.000 T . . . -2.388 0.004 0.001 0.152 0.004 0.002 0.012 N c -1.597 -1.681 0.969 0.290 0.707 0.730 0 -4.21 0.035 -0.518 0.063 -1.293 0.014 0.000 0.063 0.002 0.062 0.246 0.002 . . . 0.2513 0.0884 0.1277 0.3450 0.0603 0.2030 0.3230 0.2623 0.3204 0.2289 0.0894 0.1758 0.3278 0.0530 0.2089 0.3324 0.2675 het 1537.63 130 2 231333763 . A G 1537.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.740;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5257;MQ=59.25;MQ0=0;MQRankSum=-1.135;QD=11.83;ReadPosRankSum=0.907;VQSLOD=5.8123;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,62:130:99:1568,0,1648 2 231406680 231406680 T C exonic SP100 nonsynonymous SNV SP100:NM_001080391:exon28:c.T2477C:p.M826T 0.73 0.73 0.69 0.46 0.87 0.87 0.7995 0.7510 0.6459 0.4564 0.8341 0.8561 0.8167 0.8714 0.82 0.76 0.85 0.71 0.9 rs836237 COSM4001536 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.573 0.061 T 0.001 0.112 B 0.011 0.145 B . . . 1 0.090 P . . . 1.65 0.276 T -0.38 0.134 N 0.021 0.143 -1.037 0.183 T 0.000 0.000 T . . . -2.100 0.007 0.001 0.264 0.013 0.016 0.052 N c -1.985 -2.066 1.000 0.747 0.731 0.878 0 -8.27 0.009 -2.098 0.014 -2.100 0.004 0.000 0.063 0.000 0.016 5.873 0.179 High mobility group box domain . . 0.7930 0.7463 0.6559 0.9297 0.4499 0.8262 0.8523 0.8261 0.8696 0.7966 0.7464 0.6874 0.8974 0.4437 0.8331 0.8580 0.8186 hom 2513.03 86 2 231406680 . T C 2513.03 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.958;DP=86;Dels=0.00;FS=3.170;HRun=0;HaplotypeScore=7.6667;MQ=59.22;MQ0=0;MQRankSum=1.651;QD=29.22;ReadPosRankSum=0.917;VQSLOD=3.4510;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,85:86:99:2546,185,0 2 231738168 231738168 G A exonic ITM2C nonsynonymous SNV ITM2C:NM_001012516:exon2:c.G157A:p.G53S,ITM2C:NM_030926:exon2:c.G157A:p.G53S,ITM2C:NM_001287241:exon3:c.G157A:p.G53S 0.51 0.23 0.53 0.81 0.5 0.57 0.5206 0.2598 0.5823 0.8503 0.5920 0.4890 0.5390 0.5664 0.41 0.25 0.48 0.51 0.42 rs2289235 . . . . . . . . . . . . . 0.649 0.049 T 0.0 0.067 B 0.001 0.040 B 0.287 0.148 N 1 0.186 P -0.145 0.044 N 1.62 0.282 T 0.68 0.030 N 0.023 0.361 -0.974 0.363 T 0.000 0.000 T . . . -1.267 0.023 0.005 0.720 0.095 0.112 0.163 N c -1.369 -1.281 1.000 0.489 0.672 0.522 0 -2.61 0.058 0.232 0.175 -0.343 0.071 0.984 0.356 0.109 0.192 4.686 0.121 . . . 0.5278 0.2499 0.5810 0.5421 0.8516 0.5893 0.4810 0.5282 0.5564 0.4628 0.2480 0.5791 0.5066 0.8478 0.5842 0.5064 0.5327 het 687.96 61 2 231738168 . G A 687.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.251;DP=61;Dels=0.00;FS=3.940;HRun=0;HaplotypeScore=1.7781;MQ=58.23;MQ0=0;MQRankSum=2.811;QD=11.28;ReadPosRankSum=-0.361;VQSLOD=3.7116;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,25:61:99:718,0,901 2 231738263 231738263 C T exonic ITM2C synonymous SNV ITM2C:NM_001012516:exon2:c.C252T:p.F84F,ITM2C:NM_001287240:exon2:c.C66T:p.F22F,ITM2C:NM_030926:exon2:c.C252T:p.F84F,ITM2C:NM_001287241:exon3:c.C252T:p.F84F 0.51 0.23 0.53 0.82 0.5 0.57 0.5193 0.2561 0.5785 0.8485 0.5889 0.4889 0.5343 0.5623 0.4 0.25 0.48 0.51 0.44 rs2289234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5279 0.2458 0.5783 0.5408 0.8522 0.5896 0.4825 0.5266 0.5559 0.4612 0.2426 0.5835 0.5066 0.8470 0.5848 0.5060 0.5278 het 636.95 90 2 231738263 . C T 636.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.755;DP=90;Dels=0.00;FS=0.874;HRun=2;HaplotypeScore=0.9469;MQ=59.17;MQ0=0;MQRankSum=0.871;QD=7.08;ReadPosRankSum=-0.460;VQSLOD=5.6646;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,31:90:99:667,0,1561 2 231738269 231738269 G A exonic ITM2C synonymous SNV ITM2C:NM_001012516:exon2:c.G258A:p.A86A,ITM2C:NM_001287240:exon2:c.G72A:p.A24A,ITM2C:NM_030926:exon2:c.G258A:p.A86A,ITM2C:NM_001287241:exon3:c.G258A:p.A86A 0.51 0.23 0.53 0.81 0.5 0.57 0.5193 0.2560 0.5781 0.8487 0.5894 0.4889 0.5343 0.5622 0.4 0.25 0.48 0.51 0.44 rs2289233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5282 0.2459 0.5794 0.5419 0.8520 0.5898 0.4827 0.5271 0.5563 0.4614 0.2425 0.5849 0.5066 0.8474 0.5849 0.5064 0.5278 het 698.13 88 2 231738269 . G A 698.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.102;DP=88;Dels=0.00;FS=0.866;HRun=0;HaplotypeScore=1.7791;MQ=59.15;MQ0=0;MQRankSum=-0.962;QD=7.93;ReadPosRankSum=-0.696;VQSLOD=5.7433;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,31:88:99:728,0,1472 2 231973465 231973465 T G exonic HTR2B synonymous SNV HTR2B:NM_000867:exon4:c.A1212C:p.S404S,HTR2B:NM_001320758:exon4:c.A1086C:p.S362S . . . . . . 4.121e-05 0 0 0 0 7.495e-05 0 0 0.0001 . 0.0001 . . rs376620755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.476e-05 0 0 0 0 0 9.887e-05 0 0 6.457e-05 0 0 0 0 0 0.0001 0 het 861.11 92 2 231973465 . T G 861.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.616;DP=92;Dels=0.00;FS=4.138;HRun=1;HaplotypeScore=0.9159;MQ=58.83;MQ0=0;MQRankSum=0.605;QD=9.36;ReadPosRankSum=0.889;VQSLOD=4.1563;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,37:92:99:891,0,1512 2 232072912 232072912 T C exonic ARMC9 synonymous SNV ARMC9:NM_001291656:exon3:c.T124C:p.L42L,ARMC9:NM_025139:exon3:c.T124C:p.L42L 0.25 0.36 0.23 0.14 0.29 0.18 0.2590 0.3615 0.2527 0.1507 0.3582 0.2664 0.2539 0.1864 0.29 0.36 0.26 0.27 0.24 rs11558174 COSM149093;COSM149092 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2553 0.3644 0.2459 0.3209 0.1461 0.3512 0.2542 0.2785 0.1791 0.2978 0.3628 0.2458 0.3411 0.1231 0.3534 0.2681 0.2951 het 540.69 60 2 232072912 . T C 540.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.444;DP=60;Dels=0.00;FS=2.419;HRun=0;HaplotypeScore=1.9924;MQ=57.93;MQ0=0;MQRankSum=-1.703;QD=9.01;ReadPosRankSum=-1.718;VQSLOD=3.1560;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,23:60:99:571,0,911 2 232087474 232087474 A G exonic ARMC9 nonsynonymous SNV ARMC9:NM_001291656:exon6:c.A538G:p.I180V,ARMC9:NM_025139:exon6:c.A538G:p.I180V 1. 1. 1. 1. 1. 1. 0.9999 1 1 1 1 0.9999 1 0.9999 0.99 0.99 0.99 . 0.92 rs1626450 . . . . . . . . . . . . . 0.16 0.237 T 0.005 0.119 B 0.027 0.198 B 0.000 0.477 D 1.000 0.090 P -0.55 0.024 N 2.37 0.160 T 0.66 0.023 N 0.097 0.098 -0.955 0.401 T 0.000 0.000 T . . . 3.808 0.514 23.4 0.995 0.708 0.239 0.220 N c -0.298 -0.043 1.000 0.747 0.732 0.924 0 5.59 0.846 6.699 0.743 0.076 0.183 1.000 0.715 0.994 0.587 14.725 0.688 Armadillo-like helical . . 0.9999 1 1.0000 1 1 1 0.9998 1 1.0000 0.9999 1 1 1 1 1 0.9998 1 hom 1523.51 49 2 232087474 . A G 1523.51 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9931;MQ=57.36;MQ0=0;QD=31.09;VQSLOD=6.2520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1557,120,0 2 232087475 232087475 T A exonic ARMC9 nonsynonymous SNV ARMC9:NM_001291656:exon6:c.T539A:p.I180K,ARMC9:NM_025139:exon6:c.T539A:p.I180K 1. 1. 1. 1. 1. 1. 0.9999 1 0.9998 1 0.9998 0.9999 1 0.9999 1. 1. 1. . 0.92 rs1626451 . . . . . . . . . . . . . 0.124 0.274 T 0.0 0.026 B 0.002 0.063 B 0.000 0.477 D 0.714 0.300 P -1.79 0.003 N 2.34 0.164 T 2.83 0.002 N 0.071 0.284 -0.953 0.405 T 0.000 0.000 T . . . 3.640 0.495 23.2 0.940 0.235 0.300 0.237 N c -0.403 -0.132 1.000 0.747 0.732 0.924 0 5.59 0.846 7.350 0.785 0.165 0.245 1.000 0.715 0.994 0.587 12.135 0.531 Armadillo-like helical . . 0.9999 1 0.9998 1 1 0.9999 0.9998 1 1.0000 0.9999 1 1 1 1 0.9997 0.9998 1 hom 1507.66 49 2 232087475 . T A 1507.66 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9973;MQ=57.36;MQ0=0;QD=30.77;VQSLOD=6.6716;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1541,120,0 2 232196564 232196564 C T exonic ARMC9 synonymous SNV ARMC9:NM_001291656:exon20:c.C1833T:p.L611L,ARMC9:NM_025139:exon20:c.C1833T:p.L611L 0.26 0.21 0.31 0.22 0.32 0.28 0.3034 0.2239 0.2863 0.2599 0.3505 0.3228 0.3044 0.2909 0.28 0.22 0.31 0.29 0.3 rs1669083 COSM149094;COSM149095 1(breast);1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3027 0.2164 0.2849 0.3809 0.2566 0.3499 0.3142 0.3044 0.2898 0.2859 0.2239 0.3091 0.4040 0.2890 0.3477 0.3012 0.3204 het 1290.79 97 2 232196564 . C T 1290.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.291;DP=97;Dels=0.00;FS=0.762;HRun=1;HaplotypeScore=5.5647;MQ=59.14;MQ0=0;MQRankSum=0.996;QD=13.31;ReadPosRankSum=0.938;VQSLOD=5.3485;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,52:97:99:1321,0,1126 2 232196597 232196597 G A exonic ARMC9 synonymous SNV ARMC9:NM_001291656:exon20:c.G1866A:p.T622T,ARMC9:NM_025139:exon20:c.G1866A:p.T622T 0.29 0.28 0.34 0.22 0.36 0.3 0.3409 0.2888 0.3055 0.2633 0.3740 0.3678 0.3424 0.3157 0.32 0.28 0.34 0.34 0.33 rs1669084 COSM3758018;COSM3758017 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3345 0.2798 0.3031 0.4277 0.2569 0.3742 0.3544 0.3343 0.3096 0.3266 0.2943 0.3353 0.4404 0.2883 0.3693 0.3357 0.3432 het 1121.52 71 2 232196597 . G A 1121.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.356;DP=71;Dels=0.00;FS=5.370;HRun=0;HaplotypeScore=1.8136;MQ=59.35;MQ0=0;MQRankSum=0.330;QD=15.80;ReadPosRankSum=-1.316;VQSLOD=5.4897;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,40:71:99:1152,0,852 2 232263127 232263127 G A exonic B3GNT7 nonsynonymous SNV B3GNT7:NM_145236:exon2:c.G697A:p.V233I 0.23 0.16 0.24 0.24 0.28 0.28 0.2468 0.1550 0.1686 0.2643 0.3329 0.2601 0.2444 0.2587 0.21 0.15 0.24 0.22 . rs2290130 COSM4415504 1(bone);1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.052 0.390 T 0.954 0.524 P 0.297 0.392 B 0.010 0.300 N 1.000 0.198 P 2.43 0.707 M 1.01 0.411 T -0.98 0.260 N 0.057 0.040 -0.996 0.309 T 0.000 0.000 T . . . 3.023 0.423 22.3 0.991 0.529 0.898 0.503 D c 0.129 0.113 1.000 0.517 0.719 0.830 0 3.84 0.433 3.575 0.534 0.953 0.551 1.000 0.715 0.838 0.350 10.276 0.425 . ENSG00000156966.6|ENSG00000156966.6|ENSG00000156966.6|ENSG00000172799.5 Artery_Aorta|Prostate|Testis|Whole_Blood 0.2459 0.1483 0.1805 0.3166 0.2612 0.3289 0.2503 0.2416 0.2592 0.2322 0.1582 0.2105 0.3411 0.2765 0.3259 0.2460 0.2556 het 2281.09 181 2 232263127 . G A 2281.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.461;DP=181;DS;Dels=0.00;FS=8.426;HRun=0;HaplotypeScore=3.7854;MQ=58.93;MQ0=0;MQRankSum=0.242;QD=12.60;ReadPosRankSum=0.731;VQSLOD=4.9513;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,90:181:99:2311,0,2499 2 232458443 232458443 T C exonic TEX44 nonsynonymous SNV TEX44:NM_152614:exon1:c.T781C:p.S261P 0.93 0.93 0.93 1. 0.89 0.89 0.9209 0.9285 0.9433 0.9988 0.9471 0.9052 0.8974 0.9137 0.92 0.93 0.91 0.9 0.91 rs10933378 COSM3758021 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.004 0.093 B 0.746 0.097 N 1 0.090 P 0 0.065 N 2.05 0.207 T 0.74 0.020 N 0.039 0.019 -1.003 0.290 T 0.000 0.000 T . . . -0.907 0.036 0.025 0.774 0.114 0.007 0.030 N c -1.792 -1.820 0.616 0.218 0.497 0.185 0 -6.39 0.018 -1.129 0.033 -1.987 0.005 0.001 0.137 0.003 0.074 2.722 0.048 . ENSG00000181798.2|ENSG00000181798.2|ENSG00000181798.2|ENSG00000181798.2|ENSG00000181798.2|ENSG00000181798.2|ENSG00000181798.2 Adipose_Visceral_Omentum|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.9229 0.9326 0.9448 0.8406 0.9992 0.9477 0.9090 0.9032 0.9146 0.9314 0.9355 0.9415 0.8576 0.9994 0.9447 0.9191 0.9369 hom 6872.08 204 2 232458443 . T C 6872.08 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=10.4552;MQ=59.09;MQ0=0;QD=33.69;VQSLOD=2.3946;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,203:204:99:6871,536,0 2 233244586 233244586 C G exonic ALPP synonymous SNV ALPP:NM_001632:exon5:c.C597G:p.S199S 0.95 0.99 0.87 0.93 0.94 0.96 0.9234 0.9834 0.8040 0.9175 0.8943 0.9296 0.9080 0.9600 0.95 0.98 0.93 0.97 0.89 rs2853374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9165 0.9845 0.8110 0.9475 0.9177 0.8961 0.9278 0.9176 0.9613 0.9357 0.9851 0.8341 0.95 0.9334 0.8974 0.9227 0.9184 hom 2983.98 102 2 233244586 . C G 2983.98 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=57.51;MQ0=0;QD=29.25;VQSLOD=6.2974;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3017,253,0 2 233349588 233349588 G A exonic ECEL1 nonsynonymous SNV ECEL1:NM_001290787:exon5:c.C982T:p.H328Y,ECEL1:NM_004826:exon5:c.C982T:p.H328Y 0.96 0.88 0.98 1. 0.98 1. 0.9832 0.9055 0.9897 1 0.9909 0.9881 0.9802 0.9961 0.96 0.9 0.99 0.95 1. rs1529874 COSM4133548 1(thyroid) Benign not_specified RCV000116938.2 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.504 N 1.000 0.205 P -1.245 0.008 N -1.55 0.817 D 0.62 0.024 N 0.07 0.058 -0.953 0.405 T 0.000 0.000 T . . . 0.181 0.111 4.482 0.264 0.013 0.160 0.190 N c -0.713 -0.502 1.000 0.747 0.741 0.977 0 4.88 0.630 4.110 0.573 0.164 0.245 1.000 0.715 0.983 0.502 10.550 0.441 Peptidase M13\x2c N-terminal domain . . 0.9848 0.9045 0.9901 0.9984 0.9999 0.9908 0.9865 0.9848 0.9959 0.9661 0.9135 0.9928 1 1 0.9920 0.9834 0.9878 hom 5029.16 164 2 233349588 . G A 5029.16 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3822;MQ=59.75;MQ0=0;QD=30.67;VQSLOD=7.9467;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,163:164:99:5028,427,0 2 233391306 233391306 G A exonic CHRND synonymous SNV CHRND:NM_000751:exon2:c.G120A:p.K40K,CHRND:NM_001256657:exon2:c.G120A:p.K40K 0.015 0.0015 0.026 . 0.053 0.0041 0.0303 0.0065 0.0162 0.0001 0.0984 0.0400 0.0433 0.0039 0.027 0.0079 0.036 0.011 0.033 rs55921262 . . other|Likely benign|Likely benign not_specified|Congenital_Myasthenic_Syndrome\x2c_Dominant/Recessive|Multiple_pterygium_syndrome_Escobar_type RCV000116729.4|RCV000345157.1|RCV000402331.1 MedGen|MedGen|MedGen:OMIM:Orphanet CN169374|CN239246|C0265261:265000:ORPHA294060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0316 0.0067 0.0191 0.0144 5.803e-05 0.0949 0.0397 0.0339 0.0051 0.0374 0.0067 0.0300 0.0166 0 0.0922 0.0460 0.0580 het 1535.04 150 2 233391306 . G A 1535.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DP=150;Dels=0.00;FS=2.077;HRun=2;HaplotypeScore=3.9945;MQ=58.97;MQ0=0;MQRankSum=-1.391;QD=10.23;ReadPosRankSum=-0.322;VQSLOD=4.4581;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,62:150:99:1565,0,2395 2 233410294 233410294 C T exonic CHRNG synonymous SNV CHRNG:NM_005199:exon12:c.C1422T:p.R474R 0.15 0.11 0.13 0.12 0.19 0.22 0.1869 0.1216 0.1515 0.1074 0.2052 0.2039 0.2191 0.2172 0.18 0.13 0.2 0.11 0.25 rs2099489 . . Benign|Likely benign not_specified|Multiple_pterygium_syndrome_Escobar_type RCV000174339.2|RCV000261523.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0265261:265000:ORPHA294060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1871 0.1187 0.1575 0.2428 0.1076 0.2020 0.2014 0.2078 0.2143 0.1767 0.1210 0.1567 0.28 0.0988 0.2015 0.2100 0.1928 het 803.19 75 2 233410294 . C T 803.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.554;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3729;MQ=59.69;MQ0=0;MQRankSum=-0.439;QD=10.71;ReadPosRankSum=1.090;VQSLOD=5.9786;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,34:75:99:833,0,1207 2 233750074 233750074 C T exonic NGEF synonymous SNV NGEF:NM_001114090:exon8:c.G1077A:p.V359V,NGEF:NM_019850:exon10:c.G1353A:p.V451V 0.15 0.19 0.14 0.099 0.25 0.082 0.1933 0.1813 0.1586 0.0944 0.2866 0.2306 0.1839 0.0895 0.21 0.18 0.23 0.15 0.18 rs2292725 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1941 0.1781 0.1628 0.2908 0.0962 0.2799 0.2231 0.2151 0.0893 0.2158 0.1787 0.1579 0.2914 0.0932 0.2833 0.2359 0.2290 het 1755.13 166 2 233750074 . C T 1755.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.770;DP=166;Dels=0.00;FS=3.970;HRun=2;HaplotypeScore=1.8730;MQ=59.21;MQ0=0;MQRankSum=1.473;QD=10.57;ReadPosRankSum=-1.597;VQSLOD=5.6922;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,70:166:99:1785,0,2832 2 233757679 233757679 G A exonic NGEF synonymous SNV NGEF:NM_001114090:exon5:c.C795T:p.A265A,NGEF:NM_019850:exon7:c.C1071T:p.A357A 0.3 0.28 0.4 0.35 0.33 0.18 0.3096 0.2802 0.4186 0.3583 0.3346 0.3125 0.34 0.2033 0.3 0.29 0.3 0.26 0.26 rs748002 COSM4001544;COSM442488;COSM1482873 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3130 0.2825 0.4128 0.2898 0.3509 0.3363 0.3083 0.3246 0.2041 0.3137 0.2916 0.3768 0.3033 0.3358 0.3466 0.3141 0.3006 het 2948.28 198 2 233757679 . G A 2948.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.424;DP=198;Dels=0.00;FS=4.151;HRun=0;HaplotypeScore=7.3621;MQ=59.20;MQ0=0;MQRankSum=0.193;QD=14.89;ReadPosRankSum=0.932;VQSLOD=4.6876;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,111:198:99:2978,0,2277 2 233757697 233757697 A G exonic NGEF synonymous SNV NGEF:NM_001114090:exon5:c.T777C:p.I259I,NGEF:NM_019850:exon7:c.T1053C:p.I351I 0.94 1. 0.95 0.87 0.97 0.91 0.9495 0.9892 0.9442 0.8894 0.9492 0.9582 0.9490 0.9249 0.97 0.99 0.96 0.99 0.97 rs895432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9492 0.9893 0.9520 0.9920 0.8852 0.9474 0.9561 0.9561 0.9233 0.9622 0.9912 0.9522 0.9934 0.8654 0.9527 0.9585 0.9520 hom 5662.97 177 2 233757697 . A G 5662.97 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1761;MQ=59.32;MQ0=0;QD=31.99;VQSLOD=8.1396;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5662,469,0 2 233785015 233785015 G A exonic NGEF synonymous SNV NGEF:NM_001114090:exon3:c.C531T:p.P177P,NGEF:NM_019850:exon5:c.C807T:p.P269P 0.72 0.84 0.82 0.56 0.76 0.61 0.7500 0.8358 0.8093 0.5708 0.8044 0.7729 0.7406 0.6332 0.79 0.84 0.77 0.77 0.76 rs778354 COSM1406319;COSM4417169;COSM1406318 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7493 0.8324 0.8047 0.7188 0.5737 0.8020 0.7730 0.7602 0.6314 0.7966 0.8384 0.8062 0.7285 0.5694 0.8007 0.7979 0.7793 hom 2912.70 95 2 233785015 . G A 2912.70 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6828;MQ=58.87;MQ0=0;QD=30.66;VQSLOD=9.3935;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2946,229,0 2 233834975 233834975 A G exonic NGEF nonsynonymous SNV NGEF:NM_019850:exon3:c.T332C:p.M111T 0.84 0.93 0.9 0.84 0.85 0.68 0.8427 0.9194 0.9228 0.8464 0.8728 0.8417 0.8480 0.7281 0.87 0.92 0.85 0.89 0.85 rs4973588 COSM5003325;COSM5003324 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.009 N 1 0.090 P -0.205 0.041 N -0.19 0.659 T 0.26 0.044 N 0.022 0.296 -1.022 0.231 T 0.000 0.000 T . . . -3.398 0.000 0.001 0.137 0.003 0.020 0.059 N c -1.907 -2.008 0.944 0.275 0.666 0.498 0 -7.42 0.012 -1.310 0.028 -1.420 0.012 0.000 0.063 0.002 0.062 5.422 0.156 . . . 0.8446 0.9179 0.9144 0.7300 0.8412 0.8789 0.8496 0.8456 0.7289 0.8697 0.9195 0.8962 0.6987 0.8449 0.8761 0.8443 0.8635 het 2349.96 171 2 233834975 . A G 2349.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.751;DP=171;Dels=0.00;FS=1.938;HRun=0;HaplotypeScore=1.8947;MQ=59.53;MQ0=0;MQRankSum=2.782;QD=13.74;ReadPosRankSum=0.585;VQSLOD=5.4761;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,100:171:99:2380,0,1723 2 234229320 234229320 A G exonic SAG nonsynonymous SNV SAG:NM_000541:exon5:c.A226G:p.I76V 0.074 0.11 0.04 0.03 0.052 0.11 0.0954 0.1382 0.0640 0.0233 0.1335 0.0841 0.0925 0.1397 0.065 0.092 0.051 0.065 . rs7565275 . . Likely benign|Likely benign Retinitis_Pigmentosa\x2c_Recessive|Oguchi's_disease RCV000280977.1|RCV000338381.1 MedGen|MedGen:OMIM:SNOMED_CT CN239466|C1306122:258100:193687000 . . . . . . 0.191 0.310 T 0.74 0.410 P 0.802 0.564 P 0.000 0.629 D 0.022 0.810 P 1.905 0.510 L 1.57 0.293 T -0.79 0.219 N 0.057 0.059 -1.095 0.047 T 0.003 0.008 T . . . 1.215 0.212 11.83 0.998 0.856 0.884 0.480 D c 0.316 0.304 0.822 0.245 0.497 0.185 0 4.46 0.534 2.331 0.433 1.088 0.866 1.000 0.715 0.949 0.424 14.225 0.652 Arrestin\x2c N-terminal|Arrestin\x2c conserved site|Arrestin-like\x2c N-terminal|Immunoglobulin E-set . . 0.0579 0.0951 0.0275 0.0501 0.0131 0.0800 0.0512 0.0584 0.1093 0.0637 0.0847 0.0442 0.0596 0.0093 0.0819 0.0538 0.0733 het 381.77 36 2 234229320 . A G 381.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.634;DP=36;Dels=0.00;FS=3.009;HRun=0;HaplotypeScore=1.8410;MQ=58.96;MQ0=0;MQRankSum=0.665;QD=10.60;ReadPosRankSum=-1.172;VQSLOD=6.2796;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,19:36:99:412,0,426 2 234255548 234255548 T C exonic SAG nonsynonymous SNV SAG:NM_000541:exon16:c.T1208C:p.V403A 0.14 0.26 0.11 0.047 0.086 0.15 0.1121 0.2647 0.0830 0.0300 0.1015 0.0956 0.0977 0.1502 0.13 0.23 0.083 0.15 . rs1046976 . . Benign|Benign Retinitis_Pigmentosa\x2c_Recessive|Oguchi's_disease RCV000344193.1|RCV000396577.1 MedGen|MedGen:OMIM:SNOMED_CT CN239466|C1306122:258100:193687000 . . . . . . 0.48 0.082 T 0.0 0.026 B 0.0 0.013 B 0.095 0.025 N 1 0.090 P 0 0.065 N 3.25 0.068 T 0.47 0.031 N 0.029 0.010 -0.944 0.419 T 0.000 0.000 T . . . -3.268 0.001 0.001 0.344 0.021 0.002 0.010 N c -2.000 -2.069 1.000 0.747 0.554 0.283 0 -8.79 0.007 -0.360 0.076 -1.279 0.014 0.000 0.063 0.001 0.043 2.887 0.053 . . . 0.0934 0.2436 0.0732 0.0728 0.0235 0.0841 0.0834 0.0836 0.1328 0.1205 0.2342 0.0967 0.1026 0.0173 0.0900 0.0756 0.1043 het 485.73 27 2 234255548 . T C 485.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.481;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;MQRankSum=-1.230;QD=17.99;ReadPosRankSum=-0.427;VQSLOD=7.0222;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,17:27:99:516,0,247 2 234371351 234371351 G A exonic DGKD synonymous SNV DGKD:NM_003648:exon25:c.G3024A:p.T1008T,DGKD:NM_152879:exon26:c.G3156A:p.T1052T 0.12 0.16 0.11 0.043 0.1 0.15 0.0989 0.1565 0.0713 0.0227 0.0995 0.0962 0.1093 0.1320 0.12 0.16 0.096 0.087 0.033 rs2228939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0973 0.1619 0.0772 0.1044 0.0237 0.0999 0.0952 0.0960 0.1318 0.1073 0.1579 0.0907 0.1225 0.0185 0.1022 0.0892 0.1069 het 3024.65 221 2 234371351 . G A 3024.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.311;DP=221;DS;Dels=0.00;FS=2.851;HRun=0;HaplotypeScore=2.6638;MQ=59.13;MQ0=0;MQRankSum=0.926;QD=13.69;ReadPosRankSum=-0.292;VQSLOD=6.4840;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:113,108:221:99:3055,0,3156 2 234394487 234394487 G A exonic USP40 nonsynonymous SNV USP40:NM_018218:exon28:c.C3367T:p.R1123C 0.4 0.75 0.27 0.19 0.36 0.27 0.3540 0.7003 0.2412 0.1816 0.4175 0.3432 0.3706 0.3152 0.42 0.65 0.32 0.43 . rs1048603 COSM3758038;COSM3758039 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.117 0.282 T 0.0 0.026 B 0.001 0.040 B 0.836 0.070 N 1 0.090 P -0.895 0.014 N 3.59 0.046 T 0.71 0.021 N 0.125 0.221 -1.021 0.235 T 0.000 0.000 T . . . 1.367 0.228 12.62 0.945 0.243 0.015 0.049 N c -1.486 -1.424 1.000 0.417 0.507 0.198 0 -2.41 0.061 0.288 0.186 -0.149 0.108 0.383 0.258 0.081 0.181 12.567 0.555 . ENSG00000085982.9|ENSG00000085982.9 Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.3180 0.6931 0.2225 0.3646 0.1540 0.3907 0.3105 0.3244 0.2895 0.4249 0.6876 0.2806 0.3675 0.1525 0.3868 0.3246 0.35 het 168.92 29 2 234394487 . G A 168.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.879;DP=29;Dels=0.00;FS=3.890;HRun=1;HaplotypeScore=2.7431;MQ=60.00;MQ0=0;MQRankSum=-0.659;QD=5.82;ReadPosRankSum=0.122;VQSLOD=4.0844;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,8:29:99:199,0,477 2 234449316 234449316 G A exonic USP40 synonymous SNV USP40:NM_018218:exon9:c.C1195T:p.L399L 0.82 0.77 0.87 0.85 0.76 0.88 0.8091 0.7795 0.8793 0.8694 0.7275 0.7922 0.7829 0.8487 0.79 0.78 0.79 0.83 . rs2167884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8093 0.7818 0.8747 0.7558 0.8727 0.7327 0.7939 0.7928 0.8486 0.7823 0.7799 0.8353 0.7715 0.8719 0.7420 0.7804 0.7873 hom 2940.99 94 2 234449316 . G A 2940.99 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2906;MQ=59.75;MQ0=0;QD=31.29;VQSLOD=8.1071;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2974,232,0 2 234590616 234590616 C A exonic UGT1A7 synonymous SNV UGT1A7:NM_019077:exon1:c.C33A:p.P11P 0.3 0.25 0.26 0.2 0.36 0.43 0.3511 0.2603 0.1850 0.1929 0.4624 0.3876 0.3601 0.4160 0.35 0.27 0.39 0.27 0.34 rs7577677 COSM3758045 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3502 0.2597 0.1993 0.4368 0.1947 0.4610 0.3854 0.3545 0.4114 0.3425 0.2611 0.2440 0.3709 0.1824 0.4582 0.3802 0.4153 het 1631.23 178 2 234590616 . C A 1631.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.364;DP=178;Dels=0.00;FS=2.794;HRun=0;HaplotypeScore=4.8583;MQ=59.41;MQ0=0;MQRankSum=1.979;QD=9.16;ReadPosRankSum=1.574;VQSLOD=3.6755;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,71:178:99:1661,0,3014 2 234601669 234601669 T G exonic UGT1A6 nonsynonymous SNV UGT1A6:NM_001072:exon1:c.T19G:p.S7A 0.36 0.38 0.34 0.22 0.38 0.48 0.3901 0.3858 0.2405 0.2236 0.5047 0.4106 0.4084 0.4554 0.4 0.39 0.41 0.37 0.38 rs6759892 COSM3758050 1(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.595 0.022 N 1.61 0.583 T 0.72 0.060 N 0.007 0.000 -0.989 0.329 T 0.000 0.000 T . . . -2.442 0.004 0.001 0.596 0.061 0.003 0.014 N c -1.648 -1.592 1.000 0.462 0.497 0.185 0 -0.718 0.106 -0.105 0.108 -0.819 0.031 0.000 0.063 0.000 0.016 0.768 0.009 . ENSG00000167165.14|ENSG00000224814.1 Esophagus_Mucosa|Esophagus_Mucosa 0.3881 0.3771 0.2566 0.4572 0.2277 0.5031 0.4066 0.3929 0.4537 0.3930 0.3760 0.2876 0.4040 0.2153 0.4960 0.4001 0.4499 het 520.45 54 2 234601669 . T G 520.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.026;DP=54;Dels=0.00;FS=1.103;HRun=0;HaplotypeScore=0.0000;MQ=58.00;MQ0=0;MQRankSum=0.857;QD=9.64;ReadPosRankSum=-1.732;VQSLOD=4.7020;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,23:54:99:550,0,905 2 234601965 234601965 A G exonic UGT1A6 synonymous SNV UGT1A6:NM_001072:exon1:c.A315G:p.L105L 0.34 0.37 0.3 0.22 0.33 0.47 0.3519 0.3633 0.2194 0.2232 0.4789 0.3536 0.3789 0.4455 0.36 0.37 0.36 0.34 0.33 rs1105880 COSM3758051 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3509 0.3616 0.2305 0.4188 0.2273 0.4772 0.3482 0.3517 0.4429 0.3577 0.3604 0.2512 0.3675 0.2155 0.4714 0.3469 0.4141 het 1111.03 77 2 234601965 . A G 1111.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.108;DP=77;Dels=0.00;FS=3.183;HRun=0;HaplotypeScore=3.4279;MQ=58.11;MQ0=0;MQRankSum=0.475;QD=14.43;ReadPosRankSum=-2.445;VQSLOD=4.2457;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,41:77:99:1141,0,942 2 234602191 234602191 A G exonic UGT1A6 nonsynonymous SNV UGT1A6:NM_001072:exon1:c.A541G:p.T181A 0.28 0.24 0.22 0.2 0.31 0.42 0.3133 0.2425 0.1633 0.1927 0.4362 0.3310 0.3293 0.4048 0.3 0.25 0.33 0.27 0.3 rs2070959 COSM4416000 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.729 0.075 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 0.085 0.084 N 0.28 0.591 T 0.18 0.051 N 0.016 0.003 -1.021 0.234 T 0.000 0.000 T . . . -0.378 0.063 0.436 0.444 0.034 0.044 0.098 N c -1.858 -1.924 1.000 0.747 0.497 0.185 0 -9.43 0.005 -1.388 0.026 -1.254 0.015 0.000 0.063 0.000 0.016 11.548 0.498 . ENSG00000167165.14|ENSG00000224814.1 Esophagus_Mucosa|Esophagus_Mucosa 0.3128 0.2423 0.1728 0.3981 0.1944 0.4349 0.3265 0.3146 0.4010 0.3062 0.2433 0.2064 0.3311 0.1815 0.4338 0.3270 0.3763 het 3208.76 250 2 234602191 . A G 3208.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.324;DP=250;DS;Dels=0.00;FS=0.978;HRun=0;HaplotypeScore=4.8261;MQ=58.98;MQ0=0;MQRankSum=-0.233;QD=12.84;ReadPosRankSum=1.530;VQSLOD=5.4292;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,123:250:99:3239,0,3201 2 234602202 234602202 A C exonic UGT1A6 nonsynonymous SNV UGT1A6:NM_001072:exon1:c.A552C:p.R184S 0.32 0.3 0.3 0.22 0.33 0.47 0.3457 0.2984 0.2162 0.2231 0.4782 0.3532 0.3778 0.4452 0.34 0.31 0.36 0.3 0.32 rs1105879 COSM3758052 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.034 0.440 D 0.038 0.196 B 0.103 0.294 B . . . 0.999 0.219 P 1.745 0.454 L 0.26 0.593 T -2.1 0.478 N 0.139 0.263 -0.956 0.400 T 0.000 0.000 T . . . 0.485 0.141 7.318 0.949 0.251 0.170 0.194 N c -0.939 -1.018 1.000 0.747 0.497 0.185 0 -3.31 0.046 -0.880 0.043 0.227 0.256 0.000 0.063 0.009 0.108 9.964 0.407 . ENSG00000167165.14|ENSG00000224814.1 Esophagus_Mucosa|Esophagus_Mucosa 0.3466 0.3011 0.2277 0.4190 0.2273 0.4772 0.3480 0.3498 0.4427 0.3408 0.3021 0.2434 0.3609 0.2171 0.4719 0.3466 0.4102 het 2968.17 230 2 234602202 . A C 2968.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.826;DP=230;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7536;MQ=58.83;MQ0=0;MQRankSum=0.738;QD=12.91;ReadPosRankSum=0.052;VQSLOD=5.8969;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,111:230:99:2998,0,3170 2 234638249 234638249 A G exonic UGT1A3 synonymous SNV UGT1A3:NM_019093:exon1:c.A477G:p.A159A 0.57 0.83 0.52 0.36 0.42 0.64 0.4916 0.7646 0.4587 0.3322 0.4779 0.4478 0.4670 0.6098 0.55 0.75 0.45 0.53 0.5 rs7574296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4863 0.7687 0.4639 0.5325 0.3392 0.4769 0.4425 0.4785 0.6050 0.5304 0.7576 0.4916 0.5 0.3414 0.4782 0.4353 0.5010 het 4085.66 250 2 234638249 . A G 4085.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.599;DP=250;DS;Dels=0.00;FS=1.534;HRun=1;HaplotypeScore=5.1616;MQ=59.29;MQ0=0;MQRankSum=0.928;QD=16.34;ReadPosRankSum=0.358;VQSLOD=4.5144;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,126:250:99:3414,0,3591 2 234750542 234750542 G C exonic HJURP nonsynonymous SNV HJURP:NM_001282963:exon5:c.C629G:p.S210C,HJURP:NM_001282962:exon6:c.C722G:p.S241C,HJURP:NM_018410:exon8:c.C884G:p.S295C 0.35 0.1 0.52 0.37 0.54 0.34 0.4694 0.1532 0.5405 0.3705 0.6058 0.5232 0.5198 0.3960 0.41 0.17 0.53 0.36 0.48 rs3732215 COSM1178465 1(prostate);1(thyroid) . . . . . . . . . . . 0.139 0.259 T 0.0 0.026 B 0.002 0.104 B 0.385 0.044 N 1 0.090 P 0.955 0.240 L 0.73 0.507 T -0.74 0.266 N 0.045 0.418 -0.905 0.474 T 0.000 0.000 T . . . -0.555 0.052 0.161 0.650 0.074 0.097 0.153 N c -1.054 -1.135 1.000 0.410 0.707 0.730 0 -0.842 0.102 0.050 0.139 -0.285 0.084 0.000 0.063 0.012 0.117 4.972 0.134 Holliday junction recognition protein\x2c HJURP ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2 Breast_Mammary_Tissue|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.4797 0.1519 0.5337 0.4844 0.3663 0.6024 0.5229 0.4956 0.3977 0.4296 0.1581 0.4976 0.4305 0.3879 0.6062 0.5389 0.5551 het 2342.15 142 2 234750542 . G C 2342.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.897;DP=142;Dels=0.00;FS=6.407;HRun=0;HaplotypeScore=4.1532;MQ=59.84;MQ0=0;MQRankSum=0.821;QD=16.49;ReadPosRankSum=-0.604;VQSLOD=4.1624;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,79:142:99:2372,0,1837 2 234750831 234750831 T C exonic HJURP nonsynonymous SNV HJURP:NM_001282963:exon5:c.A340G:p.R114G,HJURP:NM_001282962:exon6:c.A433G:p.R145G,HJURP:NM_018410:exon8:c.A595G:p.R199G 0.71 0.85 0.67 0.76 0.61 0.61 0.6395 0.7987 0.6341 0.7487 0.6632 0.6005 0.6454 0.6327 0.67 0.79 0.61 0.76 0.61 rs3806589 COSM4001570 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.046 T 0.0 0.026 B 0.0 0.013 B 0.507 0.051 N 1 0.090 P -1.935 0.002 N 3.23 0.322 T 0.49 0.030 N 0.013 0.365 -0.964 0.383 T 0.000 0.000 T . . . -0.095 0.085 1.768 0.230 0.010 0.009 0.036 N c -1.531 -1.425 1.000 0.414 0.707 0.730 0 1.37 0.211 -1.023 0.037 0.016 0.142 0.000 0.063 0.015 0.124 3.157 0.061 . ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2 Heart_Atrial_Appendage|Lung|Nerve_Tibial|Thyroid 0.6353 0.8025 0.6320 0.5992 0.7534 0.6576 0.5975 0.6210 0.6211 0.6804 0.7994 0.6031 0.5430 0.7787 0.6683 0.6106 0.6769 het 922.05 103 2 234750831 . T C 922.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.091;DP=103;Dels=0.00;FS=9.305;HRun=1;HaplotypeScore=5.9205;MQ=59.27;MQ0=0;MQRankSum=-0.232;QD=8.95;ReadPosRankSum=0.633;VQSLOD=4.0118;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,43:103:99:952,0,1834 2 234761225 234761225 C T exonic HJURP nonsynonymous SNV HJURP:NM_001282962:exon3:c.G226A:p.E76K,HJURP:NM_001282963:exon3:c.G226A:p.E76K,HJURP:NM_018410:exon3:c.G226A:p.E76K 0.35 0.1 0.51 0.39 0.52 0.34 0.4553 0.1509 0.5299 0.3744 0.5796 0.5050 0.4978 0.3843 0.39 0.16 0.51 0.34 0.38 rs2286430 . . . . . . . . . . . . . 0.345 0.125 T 0.017 0.172 B 0.003 0.121 B 0.438 0.047 N 1 0.090 P -0.425 0.029 N 0.82 0.481 T 0.88 0.017 N 0.121 0.157 -0.925 0.449 T 0.000 0.000 T . . . -0.039 0.090 2.225 0.315 0.018 0.011 0.041 N c -1.160 -1.324 1.000 0.747 0.722 0.854 0 -5.31 0.025 -3.067 0.007 -0.239 0.092 0.000 0.063 0.001 0.043 5.864 0.179 . ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2 Adipose_Visceral_Omentum|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.4655 0.1497 0.5238 0.4724 0.3715 0.5807 0.5036 0.4779 0.3857 0.4171 0.1535 0.4893 0.4139 0.3926 0.5865 0.5221 0.5348 het 877 64 2 234761225 . C T 877 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.216;DP=64;Dels=0.00;FS=0.952;HRun=2;HaplotypeScore=0.9578;MQ=59.42;MQ0=0;MQRankSum=0.585;QD=13.70;ReadPosRankSum=-1.033;VQSLOD=6.6666;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,37:64:99:907,0,618 2 234905078 234905078 C T exonic TRPM8 synonymous SNV TRPM8:NM_024080:exon22:c.C3048T:p.I1016I 0.16 0.08 0.32 0.082 0.25 0.13 0.2453 0.1047 0.3920 0.0853 0.2051 0.2831 0.2225 0.1796 0.22 0.11 0.28 0.15 0.32 rs11563208 COSM3758055 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2490 0.1036 0.3901 0.2101 0.0851 0.2015 0.2844 0.2654 0.1747 0.2161 0.1127 0.3854 0.2167 0.0778 0.2056 0.2821 0.2480 hom 4055.29 124 2 234905078 . C T 4055.29 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.253;DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5610;MQ=59.46;MQ0=1;MQRankSum=1.704;QD=32.70;ReadPosRankSum=1.197;VQSLOD=8.1611;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,123:124:99:4019,283,0 2 234967539 234967539 T A exonic SPP2 synonymous SNV SPP2:NM_006944:exon3:c.T270A:p.T90T 0.69 0.61 0.68 0.63 0.72 0.84 0.7153 0.6135 0.5737 0.6132 0.7920 0.7389 0.7434 0.8049 0.69 0.62 0.72 0.62 0.68 rs593668 COSM5038145 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7100 0.6122 0.5803 0.6846 0.6157 0.7943 0.7355 0.7249 0.8044 0.7000 0.6102 0.6029 0.6987 0.6095 0.7990 0.7400 0.7658 het 1573.65 111 2 234967539 . T A 1573.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.606;DP=111;Dels=0.00;FS=7.578;HRun=1;HaplotypeScore=5.7265;MQ=58.01;MQ0=0;MQRankSum=0.312;QD=14.18;ReadPosRankSum=-0.823;VQSLOD=3.9324;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,62:111:99:1604,0,1164 2 235949877 235949877 T C exonic SH3BP4 nonsynonymous SNV SH3BP4:NM_014521:exon4:c.T464C:p.M155T 0.34 0.4 0.41 0.41 0.096 0.39 0.2199 0.3750 0.5058 0.4174 0.0762 0.1063 0.1865 0.3370 0.2 0.37 0.11 0.41 0.082 rs3731644 COSM149105 1(stomach);2(large_intestine) . . . . . . . . . . . 0.597 0.057 T 0.0 0.026 B 0.0 0.013 B 0.415 0.046 N 1 0.090 P -1.1 0.010 N 3.06 0.243 T 0.1 0.088 N 0.023 0.006 -0.920 0.456 T 0.000 0.000 T . . . -1.129 0.027 0.009 0.253 0.012 0.042 0.095 N c -1.300 -1.230 1.000 0.436 0.707 0.730 0 2.53 0.295 1.325 0.331 -0.340 0.072 0.004 0.165 0.006 0.095 3.184 0.062 . . . 0.2262 0.3759 0.4856 0.1711 0.4158 0.0808 0.1032 0.1997 0.3368 0.2017 0.3652 0.4327 0.1722 0.4147 0.0764 0.1042 0.1527 het 2093.47 154 2 235949877 . T C 2093.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.727;DP=154;Dels=0.00;FS=1.403;HRun=0;HaplotypeScore=1.7870;MQ=59.61;MQ0=0;MQRankSum=0.215;QD=13.59;ReadPosRankSum=0.602;VQSLOD=6.8407;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,74:154:99:2123,0,2098 2 235949920 235949920 A G exonic SH3BP4 synonymous SNV SH3BP4:NM_014521:exon4:c.A507G:p.P169P 0.33 0.4 0.34 0.41 0.091 0.39 0.2030 0.3731 0.3763 0.4178 0.0744 0.0985 0.1799 0.3372 0.19 0.37 0.1 0.37 0.082 rs3731645 COSM149106 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2056 0.3743 0.3656 0.1715 0.4161 0.0790 0.0953 0.1814 0.3369 0.1955 0.3632 0.3561 0.1722 0.4133 0.0753 0.0975 0.1436 het 2256.20 208 2 235949920 . A G 2256.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.242;DP=208;Dels=0.00;FS=3.160;HRun=0;HaplotypeScore=5.9521;MQ=59.27;MQ0=0;MQRankSum=1.480;QD=10.85;ReadPosRankSum=-0.200;VQSLOD=4.8424;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:112,96:208:99:2286,0,3089 2 235950002 235950002 G A exonic SH3BP4 nonsynonymous SNV SH3BP4:NM_014521:exon4:c.G589A:p.A197T 0.3 0.29 0.33 0.41 0.091 0.39 0.1930 0.2643 0.3708 0.4181 0.0744 0.0983 0.1744 0.3371 0.16 0.26 0.1 0.27 0.082 rs3731646 COSM4001573 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.674 0.045 T 0.0 0.026 B 0.0 0.013 B 0.085 0.206 N 1 0.090 P -1.3 0.007 N 3.03 0.089 T 0.26 0.044 N 0.01 0.009 -0.957 0.398 T 0.000 0.000 T . . . -1.475 0.017 0.003 0.195 0.007 0.007 0.030 N c -1.392 -1.331 1.000 0.416 0.707 0.730 0 -0.018 0.132 0.429 0.210 -0.114 0.115 0.001 0.137 0.038 0.155 5.750 0.173 . . . 0.1975 0.2614 0.3590 0.1713 0.4155 0.0790 0.0950 0.1766 0.3365 0.1633 0.2510 0.3484 0.1722 0.4127 0.0756 0.0970 0.1385 het 2057.80 196 2 235950002 . G A 2057.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.311;DP=196;Dels=0.00;FS=1.128;HRun=0;HaplotypeScore=4.4235;MQ=59.15;MQ0=0;MQRankSum=2.112;QD=10.50;ReadPosRankSum=0.391;VQSLOD=5.4798;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:116,80:196:99:2088,0,3160 2 235950187 235950187 T C exonic SH3BP4 synonymous SNV SH3BP4:NM_014521:exon4:c.T774C:p.D258D 0.72 0.86 0.64 0.91 0.45 0.68 0.5622 0.8071 0.6912 0.9226 0.4009 0.4503 0.5222 0.6472 0.57 0.8 0.45 0.72 0.5 rs1469375 COSM4133563 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5610 0.8107 0.6829 0.5284 0.9258 0.3939 0.4457 0.5397 0.6529 0.5831 0.8150 0.6563 0.5530 0.9383 0.4015 0.4544 0.4939 hom 7271.29 241 2 235950187 . T C 7271.29 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7115;MQ=59.15;MQ0=0;QD=30.17;VQSLOD=8.8067;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:7269,611,0 2 235950284 235950284 A C exonic SH3BP4 synonymous SNV SH3BP4:NM_014521:exon4:c.A871C:p.R291R 0.3 0.29 0.33 0.41 0.091 0.39 0.1938 0.2667 0.3719 0.4167 0.0744 0.0990 0.1726 0.3384 0.15 0.25 0.1 0.27 0.082 rs3731648 COSM149107 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1974 0.2611 0.3593 0.1709 0.4152 0.0790 0.0949 0.1756 0.3365 0.1636 0.2513 0.3496 0.1722 0.4130 0.0753 0.0971 0.1401 het 1144.57 123 2 235950284 . A C 1144.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.115;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3928;MQ=59.36;MQ0=0;MQRankSum=1.838;QD=9.31;ReadPosRankSum=2.178;VQSLOD=4.7236;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,50:123:99:1175,0,2170 2 235951819 235951819 A G exonic SH3BP4 synonymous SNV SH3BP4:NM_014521:exon4:c.A2406G:p.L802L 0.75 0.96 0.65 0.92 0.46 0.68 0.5864 0.9007 0.7017 0.9272 0.4105 0.4726 0.5411 0.6604 0.61 0.88 0.46 0.8 0.51 rs3795962 COSM1129279 1(breast);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5817 0.9045 0.6965 0.5604 0.9291 0.4028 0.4656 0.5598 0.6557 0.6143 0.9002 0.6623 0.5662 0.9377 0.4118 0.4656 0.4990 hom 4178.03 126 2 235951819 . A G 4178.03 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.8966;MQ=58.34;MQ0=0;QD=33.16;VQSLOD=6.7412;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4178,319,0 2 236957822 236957822 G A exonic AGAP1 nonsynonymous SNV AGAP1:NM_014914:exon15:c.G1852A:p.V618I,AGAP1:NM_001037131:exon16:c.G2011A:p.V671I 0.69 0.94 0.72 0.73 0.51 0.48 0.6020 0.8816 0.7911 0.7586 0.5650 0.5248 0.5903 0.5389 0.63 0.86 0.52 0.74 0.49 rs2034648 COSM4133564 1(thyroid) . . . . . . . . . . . 0.422 0.100 T 0.0 0.026 B 0.0 0.080 B 0.021 0.268 N 1 0.090 P 1.56 0.396 L 0.98 0.421 T -0.27 0.121 N 0.008 0.134 -1.004 0.288 T 0.000 0.000 T . . . 0.576 0.149 7.985 0.914 0.201 0.025 0.069 N c -1.136 -1.114 0.999 0.397 0.719 0.830 0 0.316 0.150 0.638 0.242 -1.883 0.006 0.004 0.165 0.350 0.246 5.408 0.155 . . . 0.6030 0.8859 0.7762 0.4430 0.7508 0.5618 0.5301 0.5789 0.5401 0.6517 0.8745 0.75 0.4834 0.7407 0.5576 0.5363 0.5918 het 2580.96 193 2 236957822 . G A 2580.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.027;DP=193;DS;Dels=0.00;FS=2.587;HRun=1;HaplotypeScore=4.6533;MQ=59.47;MQ0=0;MQRankSum=0.065;QD=13.37;ReadPosRankSum=-0.338;VQSLOD=5.6921;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,93:193:99:2611,0,2755 2 237032607 237032607 T G exonic AGAP1 synonymous SNV AGAP1:NM_014914:exon17:c.T2256G:p.A752A,AGAP1:NM_001037131:exon18:c.T2415G:p.A805A 0.38 0.67 0.15 0.28 0.25 0.37 0.2924 0.6412 0.1131 0.2440 0.2994 0.2572 0.2722 0.3642 0.38 0.63 0.25 0.34 0.2 rs11895915 COSM4133565 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2760 0.6482 0.1185 0.1858 0.2527 0.2929 0.2576 0.2516 0.3640 0.3764 0.6330 0.1280 0.1523 0.2534 0.2937 0.2813 0.3320 het 1722.44 136 2 237032607 . T G 1722.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.564;DP=136;Dels=0.00;FS=7.866;HRun=0;HaplotypeScore=3.3680;MQ=58.66;MQ0=0;MQRankSum=-0.250;QD=12.66;ReadPosRankSum=1.308;VQSLOD=4.4212;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,70:136:99:1752,0,1652 2 237032703 237032703 T C exonic AGAP1 synonymous SNV AGAP1:NM_014914:exon17:c.T2352C:p.P784P,AGAP1:NM_001037131:exon18:c.T2511C:p.P837P 0.4 0.75 0.15 0.28 0.25 0.36 0.2988 0.7095 0.1164 0.2440 0.3005 0.2577 0.2749 0.3622 0.4 0.7 0.25 0.42 0.19 rs8178994 COSM4133566 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2809 0.7159 0.1224 0.1871 0.2525 0.2934 0.2580 0.2546 0.3621 0.3958 0.6984 0.1337 0.1589 0.2553 0.2950 0.2817 0.3381 het 1379.73 118 2 237032703 . T C 1379.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.166;DP=118;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=10.2253;MQ=59.32;MQ0=0;MQRankSum=-0.046;QD=11.69;ReadPosRankSum=0.604;VQSLOD=3.5099;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,52:118:99:1410,0,1722 2 237076096 237076096 C G exonic GBX2 synonymous SNV GBX2:NM_001301687:exon1:c.G519C:p.S173S,GBX2:NM_001485:exon1:c.G519C:p.S173S 0.062 0.027 0.046 0.002 0.12 0.12 0.1341 0.0699 0.0541 0.0012 0.2396 0.1541 0.1685 0.1756 0.083 0.04 0.1 . 0.041 rs112186240 COSM3749638 2(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1024 0.0448 0.0396 0.0941 0.0010 0.1551 0.1217 0.1094 0.1394 0.0999 0.0409 0.0314 0.0695 0.0006 0.1571 0.1336 0.1409 het 203.19 21 2 237076096 . C G 203.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.195;DP=21;Dels=0.00;FS=3.056;HRun=1;HaplotypeScore=1.8154;MQ=58.89;MQ0=0;MQRankSum=0.181;QD=9.68;ReadPosRankSum=-0.036;VQSLOD=5.5961;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,8:21:99:233,0,345 2 237103548 237103548 G A exonic ASB18 synonymous SNV ASB18:NM_212556:exon6:c.C1368T:p.Y456Y 0.19 0.44 0.095 0.002 0.15 0.13 0.1567 0.4242 0.0791 0.0018 0.1810 0.1433 0.1667 0.1743 0.21 0.39 0.13 0.17 . rs10177825 COSM3758057 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1422 0.4235 0.0745 0.1203 0.0016 0.1783 0.1363 0.1428 0.1585 0.2187 0.4173 0.0823 0.1093 0.0018 0.1809 0.1482 0.1837 het 476.69 39 2 237103548 . G A 476.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.184;DP=39;Dels=0.00;FS=1.236;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=-0.070;QD=12.22;ReadPosRankSum=-0.351;VQSLOD=6.0004;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,20:39:99:507,0,569 2 237103623 237103623 A G exonic ASB18 synonymous SNV ASB18:NM_212556:exon6:c.T1293C:p.A431A 0.11 0.19 0.073 0.002 0.14 0.13 0.1217 0.1890 0.0612 0.0017 0.1504 0.1253 0.1475 0.1610 0.14 0.18 0.11 0.087 . rs10166966 COSM3758058 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1159 0.1899 0.0576 0.1155 0.0016 0.1533 0.1229 0.1224 0.1535 0.1432 0.1872 0.0585 0.1026 0.0018 0.1546 0.1355 0.1487 het 582.17 52 2 237103623 . A G 582.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.380;DP=52;Dels=0.00;FS=1.050;HRun=1;HaplotypeScore=0.9867;MQ=59.16;MQ0=0;MQRankSum=0.565;QD=11.20;ReadPosRankSum=-1.824;VQSLOD=5.4930;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:612,0,814 2 237103697 237103697 G T exonic ASB18 nonsynonymous SNV ASB18:NM_212556:exon6:c.C1219A:p.H407N 0.11 0.17 0.073 0.002 0.14 0.13 0.1228 0.1744 0.0619 0.0018 0.1534 0.1274 0.1562 0.1685 0.13 0.16 0.11 0.076 . rs10177957 . . . . . . . . . . . . . 0.003 0.682 D 0.964 0.539 D 0.71 0.527 P . . . 0.000 0.513 P 3.525 0.932 H 1.15 0.382 T -5.76 0.878 D 0.152 0.215 -1.028 0.210 T 0.001 0.003 T . . . 5.749 0.785 27.0 0.989 0.474 0.962 0.679 D c 0.563 0.508 0.510 0.210 0.497 0.185 0 3.73 0.418 4.134 0.575 0.126 0.213 1.000 0.715 0.967 0.454 11.276 0.482 SOCS box domain ENSG00000182177.9 Testis 0.1135 0.1700 0.0561 0.1127 0.0016 0.1524 0.1220 0.1211 0.1515 0.1379 0.1693 0.0562 0.1026 0.0018 0.1542 0.1352 0.1490 het 384.97 31 2 237103697 . G T 384.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.482;DP=31;Dels=0.00;FS=2.222;HRun=1;HaplotypeScore=0.9894;MQ=57.25;MQ0=0;MQRankSum=-0.850;QD=12.42;ReadPosRankSum=1.245;VQSLOD=4.2811;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,15:31:99:415,0,497 2 237374309 237374309 C T exonic IQCA1 synonymous SNV IQCA1:NM_001270584:exon6:c.G765A:p.Q255Q,IQCA1:NM_001270585:exon6:c.G786A:p.Q262Q,IQCA1:NM_024726:exon6:c.G765A:p.Q255Q 0.074 0.0076 0.076 0.001 0.18 0.12 0.1540 0.0303 0.0562 0.0004 0.2476 0.2069 0.1572 0.1219 0.16 0.037 0.21 0.11 . rs35432941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1486 0.0310 0.0580 0.1265 0.0003 0.2444 0.2064 0.1473 0.1176 0.1561 0.0354 0.0490 0.1192 0.0006 0.2331 0.2285 0.2096 het 497.25 46 2 237374309 . C T 497.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.635;DP=46;Dels=0.00;FS=15.012;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.731;QD=10.81;ReadPosRankSum=-0.867;VQSLOD=3.3692;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,18:46:99:527,0,803 2 237489904 237489904 C T exonic ACKR3 synonymous SNV ACKR3:NM_020311:exon2:c.C796T:p.L266L 0.35 0.74 0.22 0.049 0.25 0.32 0.2670 0.6666 0.1537 0.0302 0.1610 0.2507 0.2467 0.3283 0.4 0.66 0.27 0.32 0.23 rs1045879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2540 0.6677 0.1585 0.2505 0.0312 0.1711 0.2584 0.2397 0.3247 0.3462 0.6731 0.1835 0.2219 0.0371 0.1611 0.2527 0.2220 het 3023.53 250 2 237489904 . C T 3023.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.928;DP=250;DS;Dels=0.00;FS=1.021;HRun=1;HaplotypeScore=9.1426;MQ=59.64;MQ0=0;MQRankSum=-0.803;QD=12.09;ReadPosRankSum=0.486;VQSLOD=4.1725;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:3054,0,4119 2 238234285 238234285 A G exonic COL6A3 synonymous SNV COL6A3:NM_057166:exon40:c.T7590C:p.C2530C,COL6A3:NM_057167:exon42:c.T8793C:p.C2931C,COL6A3:NM_004369:exon43:c.T9411C:p.C3137C 0.01 0.0015 0.032 . 0.023 0.0051 0.0127 0.0022 0.0194 0 0.0051 0.0171 0.0187 0.0064 0.015 0.0032 0.022 0.011 0.016 rs112290343 . . other|Likely benign not_specified|Collagen_VI-related_myopathy RCV000081026.7|RCV000404714.1 MedGen|MedGen CN169374|CN117976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0136 0.0026 0.0188 0.0056 0 0.0049 0.0198 0.0186 0.0063 0.0115 0.0034 0.0263 0.0066 0 0.0054 0.0183 0.0102 het 2148.85 139 2 238234285 . A G 2148.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.722;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9872;MQ=59.13;MQ0=0;MQRankSum=-0.426;QD=15.46;ReadPosRankSum=-0.684;VQSLOD=5.4969;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,77:139:99:2179,0,1578 2 238243292 238243292 G A exonic COL6A3 nonsynonymous SNV COL6A3:NM_057166:exon38:c.C7385T:p.T2462I,COL6A3:NM_057167:exon40:c.C8588T:p.T2863I,COL6A3:NM_004369:exon41:c.C9206T:p.T3069I 0.35 0.25 0.33 0.48 0.4 0.29 0.3884 0.2787 0.3200 0.4933 0.4957 0.4084 0.4071 0.3258 0.36 0.29 0.4 0.39 0.39 rs1131296 COSM4001575 1(haematopoietic_and_lymphoid_tissue);1(large_intestine);1(biliary_tract) Benign|Benign not_specified|Collagen_VI-related_myopathy RCV000081023.7|RCV000365788.1 MedGen|MedGen CN169374|CN117976 . . . . . . 0.259 0.230 T 0.002 0.102 B 0.003 0.112 B 0.719 0.099 N 0.991 0.267 P 0.2 0.092 N 1.58 0.291 T -1.33 0.366 N 0.018 0.035 -0.901 0.479 T 0.000 0.000 T . . . 1.843 0.282 15.24 0.879 0.170 0.484 0.280 N c -0.781 -0.697 0.999 0.375 0.615 0.372 0 -1.13 0.092 0.655 0.244 -0.097 0.117 0.669 0.281 0.903 0.383 9.599 0.386 Fibronectin type III|Immunoglobulin-like fold;von Willebrand factor\x2c type A . . 0.3854 0.2764 0.3111 0.3913 0.4770 0.4921 0.4018 0.4033 0.3274 0.3835 0.2803 0.3222 0.3874 0.4677 0.5026 0.4080 0.4162 hom 1978.86 66 2 238243292 . G A 1978.86 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.98;VQSLOD=14.0871;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2012,165,0 2 238243464 238243464 C G exonic COL6A3 nonsynonymous SNV COL6A3:NM_057166:exon38:c.G7213C:p.A2405P,COL6A3:NM_057167:exon40:c.G8416C:p.A2806P,COL6A3:NM_004369:exon41:c.G9034C:p.A3012P 0.79 0.98 0.67 0.73 0.79 0.69 0.7729 0.9538 0.6511 0.7159 0.8078 0.7795 0.7676 0.7338 0.84 0.95 0.78 0.85 0.77 rs2270669 COSM5009454 1(large_intestine) Benign|Benign not_specified|Collagen_VI-related_myopathy RCV000081019.7|RCV000261014.1 MedGen|MedGen CN169374|CN117976 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.994 0.235 P -2.28 0.001 N 2.08 0.202 T 2.57 0.002 N 0.089 0.089 -0.939 0.428 T 0.000 0.000 T . . . 2.827 0.401 21.5 0.949 0.252 0.051 0.108 N c -0.826 -0.516 1.000 0.747 0.615 0.372 0 5.29 0.743 5.632 0.673 0.136 0.221 1.000 0.715 0.054 0.167 16.149 0.813 Fibronectin type III|Immunoglobulin-like fold;von Willebrand factor\x2c type A . . 0.7639 0.9545 0.6526 0.8568 0.7085 0.8024 0.7715 0.7793 0.7337 0.8168 0.9520 0.6790 0.8742 0.6939 0.7999 0.7640 0.7816 hom 5991.99 189 2 238243464 . C G 5991.99 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8237;MQ=59.76;MQ0=0;QD=31.70;VQSLOD=9.3028;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,188:189:99:5969,463,0 2 238244963 238244963 A G exonic COL6A3 nonsynonymous SNV COL6A3:NM_057166:exon37:c.T6959C:p.M2320T,COL6A3:NM_057167:exon39:c.T8162C:p.M2721T,COL6A3:NM_004369:exon40:c.T8780C:p.M2927T 0.64 0.81 0.55 0.54 0.69 0.51 0.6386 0.7832 0.5222 0.5460 0.7110 0.6626 0.6413 0.5528 0.7 0.78 0.65 0.7 0.53 rs6728818 COSM4997870 1(pancreas) Benign|Benign not_specified|Collagen_VI-related_myopathy RCV000081013.8|RCV000382239.1 MedGen|MedGen CN169374|CN117976 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.270 0.038 N 1 0.090 P -1.935 0.002 N -2.22 0.871 D 0.0 0.070 N 0.008 0.000 -0.941 0.425 T 0.000 0.000 T . . . 0.121 0.105 3.838 0.277 0.014 0.001 0.008 N c -1.258 -1.197 0.999 0.382 0.615 0.372 0 2.21 0.269 1.375 0.337 0.126 0.213 0.017 0.192 0.022 0.137 5.073 0.139 von Willebrand factor\x2c type A . . 0.6313 0.7832 0.5224 0.7240 0.5331 0.7120 0.6537 0.6637 0.5547 0.6836 0.7769 0.5394 0.7417 0.5173 0.7118 0.6493 0.6554 hom 5305.11 173 2 238244963 . A G 5305.11 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5146;MQ=58.67;MQ0=0;QD=30.67;VQSLOD=7.0949;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5304,463,0 2 238249630 238249630 C T exonic COL6A3 synonymous SNV COL6A3:NM_057166:exon35:c.G6108A:p.A2036A,COL6A3:NM_057167:exon37:c.G7311A:p.A2437A,COL6A3:NM_004369:exon38:c.G7929A:p.A2643A 0.34 0.21 0.33 0.48 0.43 0.29 0.3987 0.2490 0.3240 0.4949 0.4995 0.4295 0.4161 0.3294 0.37 0.26 0.42 0.38 0.41 rs4433949 COSM3758061 2(haematopoietic_and_lymphoid_tissue);3(large_intestine) Benign|Benign not_specified|Collagen_VI-related_myopathy RCV000081003.7|RCV000300148.1 MedGen|MedGen CN169374|CN117976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3969 0.2477 0.3183 0.4437 0.4772 0.4956 0.4217 0.4217 0.3316 0.3867 0.2522 0.3301 0.4669 0.4665 0.5072 0.4268 0.4337 hom 8090.77 250 2 238249630 . C T 8090.77 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8930;MQ=58.53;MQ0=0;QD=32.36;VQSLOD=8.8614;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8090,659,0 2 238258814 238258814 C G exonic COL6A3 synonymous SNV COL6A3:NM_057166:exon25:c.G5034C:p.G1678G,COL6A3:NM_057167:exon27:c.G6237C:p.G2079G,COL6A3:NM_004369:exon28:c.G6855C:p.G2285G 0.55 0.59 0.47 0.67 0.53 0.48 0.5489 0.5841 0.4639 0.6668 0.5954 0.5474 0.5519 0.5123 0.56 0.58 0.55 0.69 0.44 rs3790993 COSM5009455 1(large_intestine) Benign|Benign not_specified|Collagen_VI-related_myopathy RCV000080973.7|RCV000276863.1 MedGen|MedGen CN169374|CN117976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5424 0.5821 0.4603 0.5782 0.6550 0.5856 0.5403 0.5481 0.5128 0.5655 0.5857 0.4880 0.6033 0.6442 0.5948 0.5419 0.5665 hom 3547.13 108 2 238258814 . C G 3547.13 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=32.84;VQSLOD=9.6472;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3547,277,0 2 238903399 238903399 G A exonic UBE2F synonymous SNV UBE2F:NM_001278306:exon3:c.G90A:p.V30V,UBE2F:NM_001278305:exon4:c.G162A:p.V54V,UBE2F:NM_001278308:exon4:c.G162A:p.V54V,UBE2F:NM_080678:exon4:c.G162A:p.V54V 0.1 0.0091 0.11 0.14 0.15 0.14 0.1402 0.0275 0.1937 0.1297 0.1197 0.1449 0.1476 0.1678 0.1 0.031 0.14 0.054 0.098 rs12615308 COSM3758082 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1431 0.0253 0.1825 0.2199 0.1242 0.1217 0.1409 0.1583 0.1657 0.1020 0.0269 0.1623 0.2185 0.1380 0.1143 0.1303 0.1469 het 656.55 77 2 238903399 . G A 656.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.141;DP=77;Dels=0.00;FS=0.897;HRun=0;HaplotypeScore=1.6208;MQ=60.00;MQ0=0;MQRankSum=0.651;QD=8.53;ReadPosRankSum=-0.090;VQSLOD=5.8285;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,28:77:99:687,0,1274 2 238990388 238990388 G A exonic SCLY nonsynonymous SNV SCLY:NM_016510:exon5:c.G547A:p.A183T 0.25 0.039 0.44 0.23 0.46 0.23 0.3571 0.0826 0.3861 0.2117 0.4902 0.4329 0.3822 0.2250 0.31 0.094 0.42 0.26 0.39 rs3210400 COSM4001578 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.017 0.546 D 0.775 0.422 P 0.593 0.487 P 0.075 0.212 N 1 0.428 P 0.08 0.083 N 1.98 0.865 T -0.98 0.260 N 0.382 0.463 -0.877 0.500 T 0.000 0.000 T . . . 1.689 0.264 14.35 0.996 0.715 0.920 0.544 D c -0.013 -0.030 0.998 0.367 0.732 0.924 0 4.96 0.650 5.000 0.635 0.953 0.551 1.000 0.715 0.038 0.155 10.015 0.410 Aminotransferase class V domain|Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 1 ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000184182.14|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000184182.14|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000184182.14|ENSG00000144488.10|ENSG00000184182.14|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000184182.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.3649 0.0798 0.4004 0.3752 0.2104 0.4822 0.4289 0.4058 0.2272 0.3311 0.0864 0.3819 0.3967 0.1968 0.4788 0.4435 0.4265 het 1150.51 85 2 238990388 . G A 1150.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.498;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=59.12;MQ0=0;MQRankSum=0.161;QD=13.54;ReadPosRankSum=0.735;VQSLOD=6.6162;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,45:85:99:1181,0,1183 2 239016539 239016539 C G exonic ESPNL synonymous SNV ESPNL:NM_194312:exon4:c.C780G:p.L260L 0.75 0.83 0.68 0.71 0.73 0.73 0.7099 0.8045 0.5960 0.7095 0.7361 0.7128 0.7284 0.7086 0.73 0.8 0.7 0.77 0.67 rs935415 COSM4133579 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6993 0.8040 0.5980 0.6434 0.7138 0.7208 0.7121 0.6958 0.7075 0.7328 0.8062 0.6124 0.6887 0.7113 0.7271 0.7023 0.7160 het 405.51 45 2 239016539 . C G 405.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.354;DP=45;Dels=0.00;FS=1.177;HRun=0;HaplotypeScore=0.9832;MQ=59.59;MQ0=0;MQRankSum=-0.239;QD=9.01;ReadPosRankSum=-2.127;VQSLOD=5.4019;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,21:45:99:436,0,711 2 239039183 239039183 G A exonic ESPNL nonsynonymous SNV ESPNL:NM_001308370:exon4:c.G724A:p.V242M,ESPNL:NM_194312:exon9:c.G1828A:p.V610M 0.13 0.24 0.085 0.053 0.11 0.12 0.1771 0.2825 0.1372 0.0813 0.1662 0.1808 0.2214 0.1653 0.14 0.2 0.11 0.065 0.041 rs73102303 . . . . . . . . . . . . . 0.733 0.051 T 0.414 0.334 B 0.029 0.203 B 0.079 0.210 N 1 0.090 P 0.175 0.091 N -0.05 0.634 T 0.4 0.035 N 0.04 0.260 -1.032 0.199 T 0.000 0.000 T . . . -0.898 0.036 0.026 0.138 0.003 0.054 0.111 N c -1.162 -1.201 0.830 0.246 0.581 0.326 0 -2.26 0.064 -1.223 0.030 -1.066 0.020 0.000 0.063 0.002 0.062 9.051 0.354 Ankyrin repeat-containing domain . . 0.1101 0.2099 0.0693 0.1781 0.0498 0.0799 0.1098 0.1241 0.1417 0.1287 0.2030 0.0871 0.1490 0.0469 0.0779 0.1111 0.0842 het 234.23 19 2 239039183 . G A 234.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.693;DP=19;Dels=0.00;FS=4.359;HRun=0;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;MQRankSum=0.867;QD=12.33;ReadPosRankSum=-0.289;VQSLOD=5.4632;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,11:19:99:264,0,161 2 239039896 239039896 G C exonic ESPNL synonymous SNV ESPNL:NM_001308370:exon4:c.G1437C:p.P479P,ESPNL:NM_194312:exon9:c.G2541C:p.P847P 0.86 0.98 0.8 0.93 0.73 0.83 0.8143 0.9488 0.8586 0.9233 0.7752 0.7625 0.7787 0.8428 0.82 0.95 0.75 0.7 0.34 rs10182906 COSM4133581 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7953 0.9468 0.8443 0.7369 0.9168 0.7586 0.7342 0.7664 0.8393 0.8101 0.9465 0.8337 0.7252 0.9136 0.7602 0.7342 0.7720 het 82.02 14 2 239039896 . G C 82.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.919;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.071;QD=5.86;ReadPosRankSum=1.909;VQSLOD=9.5420;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,4:14:99:112,0,239 2 239040187 239040187 T C exonic ESPNL synonymous SNV ESPNL:NM_001308370:exon4:c.T1728C:p.G576G,ESPNL:NM_194312:exon9:c.T2832C:p.G944G 0.86 0.98 0.8 0.93 0.73 0.83 0.7989 0.9501 0.8627 0.9268 0.7743 0.7393 0.7912 0.8397 0.82 0.95 0.75 0.53 0.7 rs12692215 COSM3758088 1(haematopoietic_and_lymphoid_tissue);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7969 0.9490 0.8520 0.7349 0.9213 0.7667 0.7400 0.7710 0.8401 0.8131 0.9481 0.8389 0.7233 0.9141 0.7662 0.7373 0.7745 het 668.01 47 2 239040187 . T C 668.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.978;DP=47;Dels=0.00;FS=2.531;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.842;QD=14.21;ReadPosRankSum=0.842;VQSLOD=5.4945;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,22:47:99:698,0,708 2 239040218 239040218 G A exonic ESPNL nonsynonymous SNV ESPNL:NM_001308370:exon4:c.G1759A:p.A587T,ESPNL:NM_194312:exon9:c.G2863A:p.A955T 0.13 0.24 0.091 0.055 0.12 0.12 0.1210 0.2213 0.0719 0.0520 0.1019 0.1202 0.1472 0.1421 0.15 0.21 0.12 0.11 0.066 rs73102309 COSM4133582 1(pancreas);1(thyroid) . . . . . . . . . . . 0.416 0.100 T 0.001 0.067 B 0.002 0.063 B 0.612 0.109 N 1 0.090 P 0.865 0.215 L -0.06 0.636 T -0.79 0.219 N 0.008 0.160 -1.043 0.163 T 0.000 0.000 T . . . -1.852 0.010 0.002 0.878 0.169 0.119 0.168 N c -1.638 -1.745 1.000 0.458 0.554 0.283 0 -8.28 0.009 -1.204 0.031 -1.177 0.016 0.000 0.063 0.000 0.016 0.427 0.004 . . . 0.1150 0.2087 0.0717 0.1850 0.0493 0.0968 0.1148 0.1315 0.1431 0.1367 0.2038 0.0895 0.1556 0.0470 0.0945 0.1217 0.1025 het 656.37 57 2 239040218 . G A 656.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.432;DP=57;Dels=0.00;FS=1.300;HRun=0;HaplotypeScore=0.9989;MQ=59.34;MQ0=0;MQRankSum=1.091;QD=11.52;ReadPosRankSum=-1.285;VQSLOD=5.7554;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,24:57:99:686,0,921 2 239040343 239040343 G A exonic ESPNL synonymous SNV ESPNL:NM_001308370:exon4:c.G1884A:p.K628K,ESPNL:NM_194312:exon9:c.G2988A:p.K996K 0.086 0.092 0.062 0.055 0.091 0.12 0.0853 0.0842 0.0427 0.0506 0.0461 0.0891 0.0922 0.1403 0.088 0.086 0.089 0.054 0.066 rs73102311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0823 0.0806 0.0466 0.1342 0.0491 0.0444 0.0882 0.0844 0.1303 0.0790 0.0745 0.0632 0.1126 0.0462 0.0475 0.0928 0.0787 het 1401.55 162 2 239040343 . G A 1401.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.051;DP=162;Dels=0.00;FS=2.065;HRun=2;HaplotypeScore=1.6439;MQ=58.95;MQ0=0;MQRankSum=0.313;QD=8.65;ReadPosRankSum=1.126;VQSLOD=5.9065;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:105,57:162:99:1432,0,2872 2 239051550 239051550 T C exonic KLHL30 synonymous SNV KLHL30:NM_198582:exon3:c.T885C:p.F295F 0.93 0.98 0.89 0.93 0.86 0.96 0.9087 0.9716 0.9444 0.9397 0.9079 0.8774 0.9012 0.9568 0.92 0.97 0.89 0.94 . rs935411 COSM442580;COSM442581 1(kidney);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9040 0.9714 0.9403 0.9129 0.9389 0.9054 0.8767 0.8843 0.9548 0.9089 0.9713 0.9175 0.9007 0.9228 0.9049 0.8723 0.8973 het 247.65 23 2 239051550 . T C 247.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.889;DP=23;Dels=0.00;FS=1.740;HRun=0;HaplotypeScore=0.5784;MQ=58.99;MQ0=0;MQRankSum=0.854;QD=10.77;ReadPosRankSum=1.379;VQSLOD=6.0271;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,12:23:99:278,0,345 2 239155053 239155053 C T exonic PER2 nonsynonymous SNV PER2:NM_022817:exon23:c.G3731A:p.G1244E 0.17 0.0083 0.32 0.26 0.18 0.2 0.2176 0.0402 0.4013 0.2977 0.1327 0.2080 0.2052 0.2216 0.14 0.044 0.19 0.15 0.14 rs934945 COSM3758092 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.94 0.022 T 0.02 0.170 B 0.008 0.127 B 0.886 0.087 N 1 0.090 P 1.295 0.326 L 2.9 0.101 T -1.39 0.344 N 0.039 0.019 -0.929 0.444 T 0.000 0.000 T . . . 0.566 0.148 7.914 0.793 0.123 0.175 0.197 N c -0.921 -0.902 1.000 0.451 0.615 0.372 0 2.88 0.325 1.330 0.332 0.024 0.147 0.003 0.159 0.001 0.043 5.508 0.160 . ENSG00000144485.6|ENSG00000144485.6|ENSG00000225057.2 Nerve_Tibial|Pancreas|Testis 0.2062 0.0325 0.3653 0.1566 0.2785 0.1170 0.1941 0.2033 0.2033 0.1411 0.0359 0.3206 0.1391 0.2646 0.1233 0.1803 0.1881 het 357.39 34 2 239155053 . C T 357.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.851;DP=34;Dels=0.00;FS=6.007;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.815;QD=10.51;ReadPosRankSum=0.921;VQSLOD=5.2077;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,13:34:99:387,0,589 2 239165636 239165636 C T exonic PER2 synonymous SNV PER2:NM_022817:exon17:c.G1992A:p.A664A 0.093 0.11 0.06 0.059 0.1 0.12 0.1014 0.1068 0.0331 0.0534 0.1777 0.1007 0.1090 0.1427 0.095 0.1 0.09 0.12 0.057 rs2304670 COSM3758093 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0980 0.1072 0.0352 0.1267 0.0539 0.1678 0.0941 0.1013 0.1414 0.1063 0.1046 0.0370 0.0960 0.0506 0.1605 0.1032 0.1303 het 1977.18 138 2 239165636 . C T 1977.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.161;DP=138;DS;Dels=0.00;FS=0.895;HRun=0;HaplotypeScore=11.3741;MQ=59.50;MQ0=0;MQRankSum=2.056;QD=14.33;ReadPosRankSum=-0.997;VQSLOD=2.9806;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,70:138:99:2007,0,1757 2 239237953 239237953 G T exonic TRAF3IP1 nonsynonymous SNV TRAF3IP1:NM_001139490:exon5:c.G885T:p.K295N,TRAF3IP1:NM_015650:exon5:c.G885T:p.K295N 0.21 0.022 0.35 0.24 0.3 0.22 0.2893 0.0589 0.3607 0.2341 0.2765 0.3282 0.3071 0.2427 0.23 0.067 0.32 0.21 0.36 rs12464423 COSM4416180;COSM4416179 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.107 0.574 T 0.904 0.479 P 0.625 0.497 P 0.336 0.140 N 0.681 0.365 P 2.43 0.707 M 2.09 0.201 T -1.56 0.424 N 0.019 0.022 -0.946 0.417 T 0.000 0.000 T . . . 1.738 0.270 14.62 0.986 0.432 0.873 0.465 D c -0.258 -0.317 0.729 0.230 0.732 0.924 0 2.52 0.294 0.060 0.141 0.154 0.240 0.000 0.063 0.870 0.364 8.217 0.305 . . . 0.2899 0.0574 0.3601 0.3989 0.2334 0.2813 0.3266 0.3248 0.2470 0.2492 0.0601 0.3508 0.3675 0.2324 0.2765 0.3413 0.3347 het 967.11 107 2 239237953 . G T 967.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.524;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;MQRankSum=0.833;QD=9.04;ReadPosRankSum=-0.377;VQSLOD=6.0944;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,44:107:99:997,0,1681 2 239353001 239353001 C T exonic ASB1 synonymous SNV ASB1:NM_001330196:exon3:c.C210T:p.D70D,ASB1:NM_001040445:exon4:c.C513T:p.D171D 0.085 0.15 0.017 0.079 0.042 0.094 0.0560 0.1425 0.0116 0.0782 0.1172 0.0303 0.0622 0.1036 0.062 0.14 0.025 0.11 0.0082 rs2290075 COSM4416148 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0518 0.1347 0.0137 0.0338 0.0812 0.1086 0.0263 0.0422 0.0944 0.0729 0.1390 0.0274 0.0298 0.0705 0.1103 0.0301 0.0631 het 1389.79 108 2 239353001 . C T 1389.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.264;DP=108;Dels=0.00;FS=0.735;HRun=0;HaplotypeScore=6.4615;MQ=57.77;MQ0=0;MQRankSum=1.362;QD=12.87;ReadPosRankSum=0.015;VQSLOD=4.4332;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,56:108:99:1420,0,1293 2 240003870 240003870 G A exonic HDAC4 synonymous SNV HDAC4:NM_006037:exon21:c.C2565T:p.P855P 0.6 0.59 0.65 0.69 0.44 0.63 0.5333 0.5669 0.7047 0.6877 0.4642 0.4672 0.5231 0.6068 0.51 0.57 0.47 0.41 0.49 rs1063639 COSM4133597 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5363 0.5666 0.6882 0.4788 0.6871 0.4658 0.4632 0.5159 0.6092 0.5092 0.5783 0.6277 0.4667 0.7295 0.4685 0.4490 0.5092 het 2405.42 199 2 240003870 . G A 2405.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.818;DP=199;Dels=0.00;FS=2.456;HRun=0;HaplotypeScore=8.4506;MQ=59.37;MQ0=0;MQRankSum=0.580;QD=12.09;ReadPosRankSum=0.669;VQSLOD=4.7058;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,95:199:99:2435,0,2889 2 240946766 240946766 T C exonic NDUFA10 synonymous SNV NDUFA10:NM_001322019:exon7:c.A771G:p.Q257Q,NDUFA10:NM_001322020:exon7:c.A771G:p.Q257Q,NDUFA10:NM_004544:exon7:c.A771G:p.Q257Q 0.36 0.29 0.44 0.47 0.41 0.21 0.4064 0.2955 0.4792 0.4459 0.5275 0.4324 0.4047 0.2504 0.37 0.29 0.41 0.46 0.32 rs13848 COSM3758099 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign|Likely benign|Likely benign not_specified|Mitochondrial_complex_I_deficiency|Leigh_syndrome RCV000117700.2|RCV000340422.1|RCV000392330.1 MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C1838979:252010|C0023264:256000:ORPHA506:29570005 . . . . . . 0.025 0.473 D . . . . . . . . . 1.000 0.206 P . . . -3.43 0.944 D -0.94 0.251 N . . -1.226 0.000 T 0.000 0.000 T . . . -0.779 0.041 0.048 0.809 0.130 0.002 0.011 N c -0.832 -0.965 0.249 0.187 0.732 0.924 0 1.66 0.230 -0.205 0.093 -0.339 0.072 0.631 0.278 0.001 0.043 7.645 0.273 P-loop containing nucleoside triphosphate hydrolase ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Testis|Thyroid|Whole_Blood 0.4002 0.2853 0.4701 0.3585 0.4442 0.5172 0.4126 0.4011 0.2402 0.4118 0.2941 0.4821 0.3411 0.4629 0.5229 0.4443 0.4430 het 777.49 46 2 240946766 . T C 777.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.117;DP=46;Dels=0.00;FS=2.729;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.641;QD=16.90;ReadPosRankSum=-0.124;VQSLOD=6.1314;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,28:46:99:807,0,410 2 241066280 241066280 C T exonic COPS9 synonymous SNV COPS9:NM_138336:exon5:c.G459A:p.E153E 0.72 0.97 0.67 0.73 0.57 0.56 0.6043 0.9137 0.6734 0.7380 0.5502 0.5402 0.6178 0.5712 0.67 0.9 0.55 0.79 0.58 rs4292120 COSM4133650 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6042 0.9177 0.6725 0.6088 0.7434 0.5564 0.5379 0.6101 0.5686 0.6676 0.9089 0.6539 0.6033 0.7327 0.5462 0.5573 0.5615 het 2472.19 192 2 241066280 . C T 2472.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.065;DP=192;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9372;MQ=59.09;MQ0=0;MQRankSum=0.055;QD=12.88;ReadPosRankSum=-1.164;VQSLOD=6.0420;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,93:192:99:2502,0,2663 2 241401741 241401741 C T exonic GPC1 synonymous SNV GPC1:NM_002081:exon3:c.C459T:p.R153R 0.15 0.21 0.14 0.024 0.2 0.16 0.2082 0.2143 0.1349 0.0175 0.2539 0.2510 0.2199 0.1625 0.2 0.18 0.21 0.21 0.18 rs1042829 COSM442611 2(breast);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1723 0.1812 0.1187 0.2460 0.0118 0.1946 0.2108 0.1897 0.1415 0.2084 0.1844 0.1480 0.2152 0.0179 0.2138 0.2449 0.2122 het 288.65 23 2 241401741 . C T 288.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.698;DP=23;Dels=0.00;FS=7.991;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-0.651;QD=12.55;ReadPosRankSum=2.574;VQSLOD=3.6260;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,13:23:99:319,0,229 2 241405485 241405485 C T exonic GPC1 synonymous SNV GPC1:NM_002081:exon9:c.C1455T:p.G485G 0.15 0.18 0.13 0.015 0.21 0.18 0.1820 0.1854 0.1094 0.0089 0.1403 0.2252 0.1732 0.1682 0.21 0.17 0.23 0.076 0.16 rs2228330 COSM3758105 1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1741 0.1768 0.1108 0.2450 0.0091 0.1264 0.2247 0.1844 0.1681 0.1768 0.1806 0.1328 0.2933 0.0068 0.1272 0.2051 0.1724 het 370.94 37 2 241405485 . C T 370.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.418;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7842;MQ=58.41;MQ0=0;MQRankSum=-0.665;QD=10.03;ReadPosRankSum=0.170;VQSLOD=5.3768;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,15:37:99:401,0,591 2 241405528 241405528 A G exonic GPC1 nonsynonymous SNV GPC1:NM_002081:exon9:c.A1498G:p.S500G 0.66 0.92 0.65 0.34 0.7 0.62 0.6642 0.9025 0.5728 0.3346 0.6761 0.6975 0.6788 0.6139 0.77 0.89 0.71 0.72 0.63 rs2228331 COSM3721956 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.81 0.030 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.495 0.005 N 0.83 0.478 T 1.36 0.009 N 0.248 0.394 -0.972 0.368 T 0.000 0.000 T . . . -1.145 0.027 0.008 0.454 0.035 0.038 0.090 N c -1.513 -1.386 0.538 0.212 0.696 0.567 0 1.97 0.252 0.163 0.162 -0.359 0.068 0.002 0.151 0.002 0.062 7.969 0.291 . . . 0.6568 0.9053 0.5728 0.6446 0.3274 0.6810 0.7057 0.6741 0.6190 0.7312 0.9028 0.6007 0.7053 0.3404 0.6828 0.6961 0.6790 het 520.38 57 2 241405528 . A G 520.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.427;DP=57;Dels=0.00;FS=1.082;HRun=1;HaplotypeScore=2.6766;MQ=58.78;MQ0=0;MQRankSum=-0.352;QD=9.13;ReadPosRankSum=1.400;VQSLOD=5.8693;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,23:57:99:550,0,1046 2 241451350 241451350 C T exonic ANKMY1 synonymous SNV ANKMY1:NM_001282780:exon9:c.G1524A:p.T508T,ANKMY1:NM_001308375:exon9:c.G1761A:p.T587T,ANKMY1:NM_001282781:exon10:c.G1230A:p.T410T,ANKMY1:NM_016552:exon10:c.G1947A:p.T649T,ANKMY1:NM_001282771:exon11:c.G2214A:p.T738T 0.078 0.066 0.098 0.0069 0.15 0.076 0.1308 0.0804 0.0644 0.0087 0.1768 0.1698 0.1354 0.0976 0.14 0.086 0.17 0.043 0.12 rs10427348 COSM3758106 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1304 0.0769 0.0742 0.1001 0.0079 0.1725 0.1717 0.1344 0.1000 0.1332 0.0845 0.0859 0.0861 0.0031 0.1717 0.1697 0.1448 het 1263.95 97 2 241451350 . C T 1263.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.826;DP=97;Dels=0.00;FS=1.654;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;MQRankSum=1.224;QD=13.03;ReadPosRankSum=-0.776;VQSLOD=5.6782;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,47:97:99:1294,0,1263 2 241468875 241468875 C T exonic ANKMY1 nonsynonymous SNV ANKMY1:NM_016552:exon4:c.G265A:p.D89N,ANKMY1:NM_001282771:exon5:c.G532A:p.D178N 0.0094 0.0015 0.014 . 0.027 0.0082 0.0186 0.0034 0.0082 0.0001 0.0367 0.0261 0.0183 0.0079 0.02 0.0041 0.028 0.043 0.041 rs35278753 . . . . . . . . . . . . . 0.126 0.299 T 0.999 0.764 D 0.909 0.628 D 0.000 0.523 D 0.999 0.810 D 2.18 0.615 M 0.31 0.586 T -3.12 0.709 D 0.069 0.080 -0.912 0.466 T 0.099 0.369 T . . . 5.149 0.694 25.4 0.998 0.907 0.944 0.608 D c 0.246 0.283 0.985 0.308 0.651 0.465 0 4.91 0.638 5.924 0.696 0.852 0.362 1.000 0.715 0.097 0.188 15.944 0.795 . . . 0.0186 0.0035 0.0089 0.0174 5.798e-05 0.0323 0.0269 0.0199 0.0070 0.0243 0.0060 0.0143 0.0099 0 0.0364 0.0360 0.0183 het 599.64 53 2 241468875 . C T 599.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.029;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.56;MQ0=0;MQRankSum=0.633;QD=11.31;ReadPosRankSum=0.193;VQSLOD=6.5455;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,25:53:99:630,0,647 2 241531479 241531479 A G exonic CAPN10 synonymous SNV CAPN10:NM_023083:exon4:c.A600G:p.P200P,CAPN10:NM_023085:exon4:c.A600G:p.P200P 0.12 0.029 0.13 0.097 0.16 0.21 0.1823 0.0571 0.1215 0.1196 0.2586 0.1975 0.1741 0.2295 0.12 0.052 0.16 0.098 0.041 rs3792269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1478 0.0445 0.0828 0.0916 0.0976 0.1960 0.1704 0.1506 0.1981 0.1259 0.0465 0.0919 0.0828 0.0864 0.1872 0.1623 0.1663 het 244.82 16 2 241531479 . A G 244.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.566;DP=16;Dels=0.00;FS=9.260;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.246;QD=15.30;ReadPosRankSum=1.473;VQSLOD=3.6978;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,11:16:99:275,0,137 2 241536126 241536126 A G exonic CAPN10 nonsynonymous SNV CAPN10:NM_023083:exon9:c.A1510G:p.T504A 0.12 0.029 0.13 0.093 0.16 0.21 0.1474 0.0442 0.0734 0.0981 0.1875 0.1664 0.1478 0.2195 0.12 0.046 0.16 0.076 0.049 rs7607759 . . . . . . . . . . . . . 0.824 0.031 T 0.0 0.026 B 0.0 0.013 B 0.522 0.052 N 1 0.090 P -0.77 0.017 N -2.09 0.864 D 0.45 0.036 N 0.012 0.001 -1.083 0.067 T 0.001 0.002 T . . . -2.191 0.006 0.001 0.240 0.010 0.005 0.023 N c -2.214 -2.141 1.000 0.415 0.696 0.567 0 -3.01 0.051 -1.089 0.035 -2.779 0.002 0.000 0.063 0.000 0.016 5.082 0.139 . ENSG00000142330.15|ENSG00000178623.7|ENSG00000178623.7|ENSG00000178623.7|ENSG00000142330.15|ENSG00000178623.7|ENSG00000178623.7|ENSG00000178623.7|ENSG00000178623.7|ENSG00000142330.15|ENSG00000178623.7|ENSG00000178623.7|ENSG00000142330.15|ENSG00000178623.7|ENSG00000142330.15|ENSG00000142330.15|ENSG00000178623.7|ENSG00000142330.15|ENSG00000142330.15 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Whole_Blood 0.1437 0.0436 0.0792 0.0903 0.0965 0.1911 0.1681 0.1510 0.1959 0.1263 0.0467 0.0919 0.0828 0.0875 0.1874 0.1626 0.1667 het 345.12 42 2 241536126 . A G 345.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.220;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4671;MQ=59.56;MQ0=0;MQRankSum=0.395;QD=8.22;ReadPosRankSum=0.483;VQSLOD=5.9079;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,14:42:99:375,0,687 2 241537421 241537421 G A exonic CAPN10 synonymous SNV CAPN10:NM_023085:exon8:c.G1395A:p.A465A,CAPN10:NM_023083:exon10:c.G1860A:p.A620A 0.51 0.29 0.56 0.65 0.61 0.54 0.5811 0.3129 0.6065 0.6594 0.5471 0.6154 0.5740 0.5643 0.52 0.32 0.62 0.53 0.65 rs3749166 COSM4133668;COSM4133667 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5833 0.3067 0.6071 0.5989 0.6596 0.5434 0.6126 0.5781 0.5695 0.5285 0.3211 0.5892 0.5894 0.6815 0.5611 0.6177 0.5729 het 1111.02 89 2 241537421 . G A 1111.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.156;DP=89;Dels=0.00;FS=0.978;HRun=0;HaplotypeScore=4.8266;MQ=59.74;MQ0=0;MQRankSum=-0.823;QD=12.48;ReadPosRankSum=0.459;VQSLOD=5.0012;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,39:89:99:1141,0,1228 2 241569692 241569692 C T exonic GPR35 nonsynonymous SNV GPR35:NM_005301:exon2:c.C323T:p.T108M,GPR35:NM_001195381:exon6:c.C416T:p.T139M,GPR35:NM_001195382:exon6:c.C416T:p.T139M 0.15 0.22 0.13 0.086 0.17 0.12 0.1754 0.2309 0.1277 0.0836 0.2479 0.1888 0.1574 0.1265 0.19 0.23 0.17 0.16 0.15 rs3749171 COSM5829442;COSM3758109 2(large_intestine) . . . . . Inflammatory bowel disease 1.14 . 23128233 rs3749171 3E-21 0.18 0.219 T 0.984 0.588 D 0.477 0.452 P 0.273 0.151 N 1 0.090 P 1.465 0.370 L -0.8 0.739 T -3.34 0.663 D 0.043 0.083 -0.774 0.567 T 0.000 0.001 T . . . 1.012 0.191 10.73 0.989 0.475 0.059 0.117 N c -0.971 -1.263 1.000 0.473 0.517 0.208 0 -7.41 0.012 -0.797 0.046 -0.481 0.053 0.000 0.063 0.011 0.114 18.033 0.892 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1638 0.2253 0.1255 0.1248 0.0824 0.2512 0.1849 0.1555 0.1176 0.1958 0.2192 0.1169 0.1192 0.0716 0.2354 0.1922 0.2002 hom 1798.39 55 2 241569692 . C T 1798.39 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;QD=32.70;VQSLOD=9.2020;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1831,147,0 2 241621800 241621800 C - exonic AQP12B frameshift deletion AQP12B:NM_001102467:exon1:c.455delG:p.S152Tfs*23 0.23 0.26 0.19 0.36 0.14 0.19 0.3201 0.4122 0.3393 0.4516 0.3410 0.2864 0.3919 0.2675 0.2 0.29 0.15 . . rs201917032 COSM111410 1(ovary);1(oesophagus);1(thyroid);2(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1709 0.2525 0.2123 0.1763 0.3293 0.1270 0.1218 0.1791 0.1624 0.1651 0.2334 0.1780 0.1345 0.3384 0.1179 0.1173 0.1573 het 449.26 33 2 241621799 . GC G 449.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.807;DP=33;FS=7.949;HRun=1;HaplotypeScore=76.7649;MQ=20.60;MQ0=68;MQRankSum=-1.330;QD=4.45;ReadPosRankSum=-1.184;set=variant2 GT:AD:DP:GQ:PL 0/1:69,32:33:99:488,0,790 2 241713646 241713646 A G exonic KIF1A synonymous SNV KIF1A:NM_001244008:exon12:c.T991C:p.L331L,KIF1A:NM_001320705:exon12:c.T991C:p.L331L,KIF1A:NM_001330289:exon12:c.T991C:p.L331L,KIF1A:NM_001330290:exon12:c.T991C:p.L331L,KIF1A:NM_004321:exon12:c.T991C:p.L331L 0.51 0.74 0.36 0.62 0.36 0.35 0.3862 0.6767 0.2989 0.5868 0.3255 0.3545 0.3792 0.3217 0.45 0.65 0.35 0.65 . rs1063353 COSM4419545;COSM4419544 1(haematopoietic_and_lymphoid_tissue) other|Likely benign|Likely benign|Likely benign not_specified|Hereditary_sensory_and_autonomic_neuropathy_type_II|Spastic_Paraplegia\x2c_Recessive|Intellectual_Disability\x2c_Dominant RCV000117403.3|RCV000299654.1|RCV000356803.1|RCV000401209.1 MedGen|MedGen|MedGen|MedGen CN169374|C0020072|CN239433|CN239282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3736 0.6827 0.3046 0.3072 0.5894 0.3205 0.3507 0.3756 0.3168 0.4507 0.6792 0.3186 0.2748 0.5928 0.3248 0.3487 0.3585 het 1310.40 108 2 241713646 . A G 1310.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.698;DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.8544;MQ=58.51;MQ0=0;MQRankSum=1.187;QD=12.13;ReadPosRankSum=2.203;VQSLOD=4.5691;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,54:108:99:1340,0,1376 2 241808314 241808314 C T exonic AGXT nonsynonymous SNV AGXT:NM_000030:exon1:c.C32T:p.P11L 0.081 0.036 0.13 . 0.2 0.061 0.1545 0.0675 0.0761 0.0004 0.2546 0.2127 0.1614 0.0718 0.16 0.061 0.2 0.087 0.14 rs34116584 COSM3766554 7(soft_tissue);1(liver) Uncertain significance\x2cPathogenic\x2cother|Benign|Likely benign Primary_hyperoxaluria\x2c_type_I\x2cPrimary_hyperoxaluria\x2c_type_I\x2cPrimary_hyperoxaluria\x2c_type_I|not_specified|Primary_hyperoxaluria RCV000186220.1\x2cRCV000186275.1\x2cRCV000005995.7|RCV000173049.2|RCV000290977.1 MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT C0268164:259900:ORPHA93598:65520001\x2cC0268164:259900:ORPHA93598:65520001\x2cC0268164:259900:ORPHA93598:65520001|CN169374|C0020501:ORPHA416:17901006 . . . . . . 0.015 0.524 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.588 P 2.515 0.735 M -2.36 0.882 D -8.95 0.980 D 0.523 0.564 -1.138 0.014 T 0.003 0.009 T . . . 5.139 0.693 25.4 0.998 0.906 0.968 0.711 D c 0.415 0.250 1.000 0.747 0.497 0.185 0 4.42 0.526 6.621 0.739 0.807 0.329 0.998 0.411 0.011 0.114 11.635 0.503 Pyridoxal phosphate-dependent transferase ENSG00000172482.4|ENSG00000172482.4|ENSG00000172482.4 Adrenal_Gland|Colon_Transverse|Prostate 0.1480 0.0599 0.0801 0.1848 0.0003 0.2438 0.2022 0.1676 0.0724 0.1522 0.0623 0.1017 0.1656 0.0012 0.2294 0.2036 0.1837 het 578.23 42 2 241808314 . C T 578.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.448;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.139;QD=13.77;ReadPosRankSum=1.322;VQSLOD=11.1962;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,22:42:99:608,0,548 2 241808685 241808685 C T exonic AGXT synonymous SNV AGXT:NM_000030:exon2:c.C264T:p.A88A 0.081 0.036 0.13 . 0.21 0.061 0.1498 0.0632 0.0741 0.0003 0.2430 0.2065 0.1523 0.0696 0.16 0.062 0.2 0.11 0.19 rs35698882 . . Uncertain significance|Benign|Likely benign Primary_hyperoxaluria\x2c_type_I|not_specified|Primary_hyperoxaluria RCV000186234.1|RCV000251471.1|RCV000351918.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT C0268164:259900:ORPHA93598:65520001|CN169374|C0020501:ORPHA416:17901006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1489 0.0603 0.0804 0.1834 0.0003 0.2436 0.2028 0.1681 0.0727 0.1527 0.0623 0.1029 0.1633 0.0012 0.2291 0.2045 0.1833 het 2037.82 140 2 241808685 . C T 2037.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.473;DP=140;Dels=0.00;FS=2.373;HRun=0;HaplotypeScore=2.9873;MQ=58.74;MQ0=0;MQRankSum=0.676;QD=14.56;ReadPosRankSum=0.751;VQSLOD=5.8115;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,73:140:99:2068,0,1610 2 241817516 241817516 A G exonic AGXT nonsynonymous SNV AGXT:NM_000030:exon10:c.A1020G:p.I340M 0.11 0.036 0.16 0.088 0.2 0.11 0.1653 0.0648 0.0993 0.0860 0.2511 0.2104 0.1652 0.1004 0.16 0.064 0.21 0.12 0.2 rs4426527 COSM4986441 8(soft_tissue) other|Benign|Likely benign Primary_hyperoxaluria\x2c_type_I|not_specified|Primary_hyperoxaluria RCV000032682.7|RCV000247828.2|RCV000389779.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT C0268164:259900:ORPHA93598:65520001|CN169374|C0020501:ORPHA416:17901006 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.194 P -2.185 0.001 N -2.16 0.866 D 3.24 0.001 N 0.149 0.245 -1.061 0.115 T 0.000 0.000 T . . . -2.028 0.008 0.001 0.091 0.001 0.049 0.105 N c -1.634 -1.446 1.000 0.480 0.517 0.208 0 2.21 0.269 2.931 0.484 -1.718 0.007 1.000 0.715 0.001 0.043 8.273 0.308 Aminotransferase class V domain|Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 2 ENSG00000172482.4|ENSG00000172482.4 Adrenal_Gland|Colon_Transverse 0.1647 0.0616 0.1057 0.1964 0.0863 0.2493 0.2059 0.1778 0.1026 0.1608 0.0640 0.1364 0.1733 0.0815 0.2344 0.2077 0.1926 het 1165.66 87 2 241817516 . A G 1165.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.457;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7785;MQ=59.57;MQ0=0;MQRankSum=0.336;QD=13.40;ReadPosRankSum=0.353;VQSLOD=6.2932;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,41:87:99:1196,0,1141 2 241828034 241828034 A G exonic C2orf54 nonsynonymous SNV C2orf54:NM_001085437:exon4:c.T926C:p.L309P,C2orf54:NM_001282921:exon4:c.T479C:p.L160P,C2orf54:NM_024861:exon4:c.T422C:p.L141P 0.99 1. 0.99 1. 0.99 0.96 0.9795 0.9921 0.9891 0.9952 0.9848 0.9800 0.9767 0.9535 0.99 1. 0.98 0.13 0.77 rs6707568 COSM4133696;COSM4133697 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.513 N 0.081 0.366 P -2.6 0.000 N 3.59 0.046 T 8.45 0.000 N 0.076 0.067 -0.902 0.478 T 0.000 0.000 T . . . -0.346 0.065 0.519 0.626 0.068 0.017 0.053 N c -0.907 -0.702 1.000 0.401 0.649 0.455 0 4.19 0.485 2.893 0.481 0.026 0.148 0.998 0.411 0.023 0.138 10.464 0.436 Mab-21 domain . . 0.9861 0.9976 0.9938 0.9956 0.9998 0.9958 0.9840 0.9879 0.9619 0.9912 0.9964 0.9916 0.9934 1 0.9968 0.9860 0.9887 hom 481.77 18 2 241828034 . A G 481.77 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=26.77;VQSLOD=7.8705;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:39.13:515,39,0 2 242129487 242129487 G T exonic ANO7 synonymous SNV ANO7:NM_001001666:exon2:c.G171T:p.R57R,ANO7:NM_001001891:exon2:c.G171T:p.R57R 0.15 0.097 0.19 0.021 0.31 0.16 0.3071 0.1710 0.3393 0.0600 0.4648 0.3924 0.3116 0.1893 0.22 0.13 0.27 0.16 0.057 rs11695874 COSM3758125;COSM3758124;COSM3758123 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2155 0.1172 0.1725 0.2137 0.0210 0.2894 0.2739 0.2478 0.1669 0.2246 0.1297 0.1966 0.2318 0.0229 0.2877 0.2874 0.2428 het 206.89 10 2 242129487 . G T 206.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.741;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.393;QD=20.69;ReadPosRankSum=-0.348;VQSLOD=12.7680;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:1,9:10:13.72:237,0,14 2 242141719 242141719 C T exonic ANO7 synonymous SNV ANO7:NM_001001891:exon8:c.C885T:p.D295D 0.41 0.48 0.51 0.079 0.68 0.33 0.5546 0.5105 0.3858 0.0707 0.6633 0.6869 0.5787 0.3762 0.64 0.53 0.69 0.39 0.68 rs2074840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5529 0.5075 0.4077 0.6497 0.0719 0.6591 0.6919 0.6001 0.3862 0.5939 0.5113 0.4916 0.6258 0.0727 0.6597 0.6876 0.6051 het 885.36 90 2 242141719 . C T 885.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.370;DP=90;Dels=0.00;FS=4.706;HRun=0;HaplotypeScore=1.8660;MQ=59.38;MQ0=0;MQRankSum=-0.476;QD=9.84;ReadPosRankSum=-0.918;VQSLOD=5.7091;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,37:90:99:915,0,1280 2 242149010 242149010 C T exonic ANO7 nonsynonymous SNV ANO7:NM_001001891:exon13:c.C1481T:p.A494V 0.12 0.1 0.16 0.016 0.26 0.1 0.2022 0.1222 0.1511 0.0145 0.2496 0.2629 0.2243 0.1073 0.21 0.13 0.26 0.17 0.18 rs57677160 COSM3758127;COSM3758126 1(pancreas);2(large_intestine) . . . . . . . . . . . 0.75 0.036 T 0.0 0.026 B 0.002 0.063 B 0.000 0.005 N 1 0.090 P 0 0.065 N -0.02 0.629 T 0.38 0.036 N 0.022 0.005 -1.081 0.071 T 0.000 0.000 T . . . 0.712 0.162 8.904 0.931 0.221 0.004 0.018 N c -1.205 -1.198 1.000 0.413 0.487 0.133 0 -0.242 0.123 2.461 0.445 -0.078 0.119 0.035 0.205 0.003 0.074 7.185 0.248 . ENSG00000168385.13|ENSG00000168385.13 Muscle_Skeletal|Thyroid 0.1912 0.1166 0.1572 0.1734 0.0151 0.2340 0.2582 0.2200 0.0982 0.2013 0.1182 0.1826 0.2020 0.0185 0.2258 0.2633 0.2230 het 564.13 37 2 242149010 . C T 564.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.077;DP=37;Dels=0.00;FS=1.421;HRun=0;HaplotypeScore=0.9734;MQ=58.62;MQ0=0;MQRankSum=1.150;QD=15.25;ReadPosRankSum=0.199;VQSLOD=5.7046;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,21:37:99:594,0,394 2 242157241 242157241 G A exonic ANO7 nonsynonymous SNV ANO7:NM_001001891:exon20:c.G2275A:p.A759T 0.11 0.017 0.18 0.11 0.17 0.13 0.1625 0.0521 0.1524 0.1181 0.1744 0.1871 0.1748 0.1506 0.13 0.049 0.17 0.043 0.15 rs76832527 . . . . . . . . . . . . . 0.028 0.461 D 0.759 0.415 P 0.272 0.382 B 0.001 0.426 N 0.000 0.482 P 1.945 0.524 M -0.25 0.670 T -3.49 0.680 D 0.121 0.330 -1.011 0.265 T 0.001 0.003 T . . . 6.726 0.919 32 0.998 0.882 0.885 0.482 D c 0.242 0.237 1.0 0.983 0.437 0.062 0 2.84 0.321 8.616 0.906 0.800 0.324 1.000 0.715 0.994 0.587 13.564 0.611 . ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.1481 0.0411 0.1450 0.1533 0.1051 0.1292 0.1753 0.1549 0.1398 0.1211 0.0422 0.1411 0.1216 0.1081 0.1224 0.1659 0.1373 het 353.82 38 2 242157241 . G A 353.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.172;DP=38;Dels=0.00;FS=3.012;HRun=0;HaplotypeScore=3.5629;MQ=59.01;MQ0=0;MQRankSum=1.394;QD=9.31;ReadPosRankSum=0.602;VQSLOD=4.9947;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,18:38:99:384,0,504 2 242203916 242203916 A C exonic HDLBP nonsynonymous SNV HDLBP:NM_001320965:exon4:c.T181G:p.S61A,HDLBP:NM_001320966:exon4:c.T181G:p.S61A,HDLBP:NM_001320967:exon4:c.T181G:p.S61A,HDLBP:NM_005336:exon4:c.T181G:p.S61A,HDLBP:NM_203346:exon4:c.T181G:p.S61A,HDLBP:NM_001243900:exon5:c.T289G:p.S97A 1. 1. 1. 1. 1. 1. 0.9998 0.9998 1 0.9994 1 0.9998 0.9989 1 . . . 0.97 1. rs11891776 COSM4591716;COSM4591715 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9999 1 1 0.9994 1 0.9999 1 0.9998 0.9999 1 1 1 0.9988 1 1 1 hom 7759.92 249 2 242203916 . A C 7759.92 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9150;MQ=59.27;MQ0=0;QD=31.16;VQSLOD=8.8190;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:249:99:7723,599,0 2 242371101 242371101 C T exonic FARP2 nonsynonymous SNV FARP2:NM_001282983:exon9:c.C779T:p.T260I,FARP2:NM_001282984:exon9:c.C779T:p.T260I,FARP2:NM_014808:exon9:c.C779T:p.T260I 0.081 0.11 0.081 0.024 0.097 0.084 0.0931 0.1016 0.1016 0.0179 0.0703 0.1063 0.0980 0.0768 0.11 0.097 0.11 0.087 0.074 rs757978 . . . . . . . Chronic lymphocytic leukemia 1.46 . 22700719 rs757978 3E-6 0.002 0.784 D 1.0 0.899 D 0.999 0.971 D 0.000 0.537 D 0.000 0.588 P 1.695 0.435 L -2.22 0.871 D -5.29 0.860 D 0.266 0.537 -0.625 0.638 T 0.057 0.241 T . . . 5.185 0.700 25.5 0.998 0.864 0.992 0.928 D c 0.596 0.588 1.000 0.747 0.707 0.730 0 4.79 0.608 5.994 0.701 0.922 0.432 1.000 0.715 1.000 0.888 18.256 0.899 FERM domain|FERM\x2c C-terminal PH-like domain|PH domain-like ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Whole_Blood 0.0933 0.1015 0.0996 0.1480 0.0180 0.0731 0.1048 0.1010 0.0776 0.1005 0.1031 0.1142 0.1589 0.0167 0.0704 0.1124 0.1096 het 1609.40 138 2 242371101 . C T 1609.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.697;DP=138;Dels=0.00;FS=6.463;HRun=0;HaplotypeScore=2.6538;MQ=59.73;MQ0=0;MQRankSum=1.247;QD=11.66;ReadPosRankSum=-0.701;VQSLOD=4.9446;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,66:138:99:1639,0,1955 2 242407588 242407588 G A exonic FARP2 nonsynonymous SNV FARP2:NM_014808:exon18:c.G1927A:p.V643I 0.084 0.094 0.089 0.026 0.12 0.096 0.1034 0.0873 0.1089 0.0178 0.0614 0.1232 0.1013 0.0918 0.12 0.085 0.13 0.076 0.074 rs41342147 . . . . . . . . . . . . . 0.357 0.120 T 0.999 0.764 D 0.997 0.850 D 0.000 0.843 D 0.000 0.588 P 1.36 0.342 L -0.04 0.633 T -0.59 0.176 N 0.189 0.231 -1.052 0.139 T 0.005 0.016 T . . . 5.235 0.707 25.6 0.998 0.905 0.985 0.835 D c 0.561 0.585 1.000 0.747 0.615 0.372 0 4.96 0.650 9.220 0.943 0.953 0.551 1.000 0.715 0.586 0.286 18.238 0.898 Dbl homology (DH) domain ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.1055 0.0863 0.1118 0.1786 0.0178 0.0656 0.1239 0.1148 0.0943 0.1023 0.0870 0.1253 0.1887 0.0160 0.0599 0.1269 0.1102 het 4062.12 230 2 242407588 . G A 4062.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.873;DP=230;DS;Dels=0.00;FS=2.366;HRun=0;HaplotypeScore=4.0482;MQ=59.49;MQ0=0;MQRankSum=0.824;QD=17.66;ReadPosRankSum=0.442;VQSLOD=5.5232;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:105,125:230:99:3444,0,2947 2 242572846 242572846 A G exonic THAP4 synonymous SNV THAP4:NM_015963:exon2:c.T726C:p.S242S 0.43 0.41 0.34 0.57 0.32 0.48 0.3411 0.3841 0.2988 0.5725 0.2267 0.2985 0.3355 0.4411 0.33 0.37 0.3 0.52 0.28 rs3208142 COSM5414603 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3377 0.3880 0.3034 0.3765 0.5709 0.2193 0.2972 0.3209 0.4425 0.3277 0.3806 0.2995 0.3826 0.5948 0.2312 0.2932 0.2965 het 1603.73 95 2 242572846 . A G 1603.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.064;DP=95;Dels=0.00;FS=6.993;HRun=1;HaplotypeScore=1.7608;MQ=59.51;MQ0=0;MQRankSum=0.377;QD=16.88;ReadPosRankSum=-0.675;VQSLOD=4.5521;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,51:95:99:1634,0,1208 2 242573211 242573211 T C exonic THAP4 nonsynonymous SNV THAP4:NM_015963:exon2:c.A361G:p.S121G 0.61 0.53 0.59 0.89 0.46 0.61 0.5362 0.5131 0.6663 0.8975 0.5322 0.4651 0.5155 0.5600 0.47 0.51 0.45 0.58 0.38 rs7424328 COSM3758134 1(kidney);2(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.247 0.036 N 1 0.090 P -1.5 0.005 N -3.78 0.956 D -0.2 0.102 N 0.012 0.001 -0.992 0.321 T 0.000 0.000 T . . . -2.504 0.003 0.001 0.295 0.016 0.031 0.079 N c -1.813 -1.764 1.000 0.489 0.707 0.730 0 -1.86 0.073 -0.637 0.055 -1.543 0.010 0.000 0.063 0.000 0.016 5.945 0.183 . . . 0.5403 0.5076 0.6538 0.4287 0.9022 0.5377 0.4612 0.4951 0.5623 0.5242 0.5144 0.5907 0.3576 0.8937 0.5186 0.4903 0.5326 hom 5203.94 159 2 242573211 . T C 5203.94 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.359;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5102;MQ=59.56;MQ0=0;MQRankSum=1.514;QD=32.73;ReadPosRankSum=0.316;VQSLOD=8.3053;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,158:159:99:5165,383,0 2 242610738 242610738 T C exonic ATG4B synonymous SNV ATG4B:NM_013325:exon12:c.T1026C:p.L342L,ATG4B:NM_178326:exon12:c.T1026C:p.L342L 0.21 0.079 0.21 0.3 0.23 0.25 0.2465 0.1104 0.2863 0.3004 0.3169 0.2415 0.2248 0.2598 0.18 0.097 0.22 0.18 . rs11538896 COSM3773962;COSM3773961 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2367 0.0958 0.2602 0.2103 0.2889 0.3046 0.2282 0.2331 0.2416 0.1991 0.1001 0.2542 0.1987 0.2668 0.2961 0.2228 0.2128 het 347.01 28 2 242610738 . T C 347.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.092;DP=28;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=0.9894;MQ=59.17;MQ0=0;MQRankSum=-0.691;QD=12.39;ReadPosRankSum=1.198;VQSLOD=5.0371;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,13:28:99:377,0,425 2 242610773 242610773 T A exonic ATG4B nonsynonymous SNV ATG4B:NM_013325:exon12:c.T1061A:p.L354Q,ATG4B:NM_178326:exon12:c.T1061A:p.L354Q 0.88 0.96 0.87 0.87 0.81 0.87 0.8153 0.9340 0.8596 0.8446 0.7913 0.7831 0.7998 0.8383 0.83 0.93 0.79 0.83 . rs7601000 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.000 0.469 N 0.936 0.269 P -0.895 0.014 N 1.05 0.405 T 2.87 0.002 N 0.024 0.374 -1.002 0.294 T 0.000 0.000 T . . . 1.742 0.270 14.65 0.885 0.174 0.182 0.200 N c -0.857 -0.601 0.090 0.161 0.707 0.730 0 2.7 0.309 1.664 0.368 0.165 0.245 1.000 0.715 0.998 0.697 5.721 0.171 . ENSG00000176720.3|ENSG00000235351.1|ENSG00000235351.1|ENSG00000235351.1|ENSG00000168395.10|ENSG00000168395.10|ENSG00000168393.8|ENSG00000235351.1|ENSG00000168395.10|ENSG00000235351.1|ENSG00000168395.10 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Testis|Testis|Thyroid|Thyroid 0.8153 0.9373 0.8563 0.8474 0.8435 0.7819 0.7790 0.8128 0.8399 0.8247 0.9335 0.8449 0.8467 0.8525 0.7904 0.7681 0.7704 het 291.99 30 2 242610773 . T A 291.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.596;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=60.00;MQ0=0;MQRankSum=-1.101;QD=9.73;ReadPosRankSum=-0.337;VQSLOD=5.1036;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,11:30:99:322,0,571 2 242757820 242757820 G A exonic NEU4 nonsynonymous SNV NEU4:NM_001167599:exon4:c.G940A:p.G314R,NEU4:NM_001167600:exon4:c.G901A:p.G301R,NEU4:NM_001167601:exon4:c.G901A:p.G301R,NEU4:NM_080741:exon4:c.G937A:p.G313R,NEU4:NM_001167602:exon5:c.G901A:p.G301R 0.24 0.3 0.22 0.1 0.28 0.29 0.2851 0.3419 0.1722 0.0886 0.3008 0.3093 0.2763 0.3363 0.28 0.28 0.28 0.29 0.14 rs11545301 COSM3758139 1(large_intestine) . . . . . . . . . . . 0.791 0.067 T 0.0 0.067 B 0.0 0.040 B 0.283 0.038 N 1 0.090 P -0.3 0.036 N -0.92 0.752 T 0.35 0.038 N 0.029 0.026 -1.102 0.038 T 0.000 0.000 T . . . -0.658 0.047 0.090 0.695 0.087 0.037 0.088 N c -1.530 -1.589 0.794 0.240 0.554 0.283 0 -3.25 0.047 -0.590 0.058 -0.032 0.126 0.000 0.063 0.000 0.016 5.018 0.136 . ENSG00000204099.7|ENSG00000224272.2|ENSG00000204099.7|ENSG00000224272.2 Muscle_Skeletal|Muscle_Skeletal|Thyroid|Thyroid 0.2527 0.2986 0.1660 0.3046 0.0789 0.2487 0.2826 0.2623 0.3117 0.2560 0.2850 0.1587 0.3212 0.0773 0.2443 0.2656 0.2541 hom 654.28 27 2 242757820 . G A 654.28 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.14;MQ0=0;QD=24.23;VQSLOD=6.1990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:51.16:687,51,0 2 242793273 242793273 A G exonic PDCD1 synonymous SNV PDCD1:NM_005018:exon5:c.T804C:p.A268A 0.65 0.55 0.63 0.73 0.6 0.76 0.6284 0.5805 0.6083 0.7245 0.7065 0.5868 0.6580 0.7550 0.59 0.59 0.58 0.7 0.5 rs2227981 COSM3758140 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6326 0.5785 0.6220 0.6163 0.7278 0.7097 0.5828 0.6148 0.7493 0.6047 0.5763 0.6124 0.5894 0.7311 0.7071 0.5808 0.6462 hom 974.91 34 2 242793273 . A G 974.91 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4673;MQ=60.00;MQ0=0;QD=28.67;VQSLOD=7.5551;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:34:81.24:1008,81,0 3 361508 361508 C T exonic CHL1 nonsynonymous SNV CHL1:NM_001253388:exon1:c.C49T:p.L17F,CHL1:NM_001253387:exon3:c.C49T:p.L17F,CHL1:NM_006614:exon3:c.C49T:p.L17F 0.35 0.56 0.24 0.31 0.2 0.34 0.2697 0.5329 0.2755 0.3395 0.2377 0.2135 0.2575 0.2994 0.31 0.52 0.2 0.36 0.22 rs2272522 COSM149325 1(haematopoietic_and_lymphoid_tissue);1(stomach);2(large_intestine) . . . . . . . . . . . 1.0 0.027 T 0.0 0.067 B 0.001 0.080 B 0.099 0.199 N 1 0.090 P 0 0.065 N 0.16 0.656 T 1.03 0.127 N 0.32 0.392 -0.975 0.360 T 0.000 0.000 T . . . -1.477 0.017 0.003 0.115 0.002 0.018 0.056 N c -1.572 -1.516 0.000 0.012 0.487 0.133 0 -2.03 0.069 -0.142 0.102 -1.145 0.017 0.581 0.274 0.330 0.242 10.765 0.453 . . . 0.2539 0.5261 0.2581 0.2134 0.3348 0.2317 0.2030 0.2461 0.2858 0.3090 0.5128 0.2404 0.2384 0.3441 0.2347 0.2125 0.2562 het 363 20 3 361508 . C T 363 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.960;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9857;MQ=56.58;MQ0=0;MQRankSum=-1.222;QD=18.15;ReadPosRankSum=0.349;VQSLOD=2.8751;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,15:20:99:393,0,116 3 391100 391100 A G exonic CHL1 nonsynonymous SNV CHL1:NM_001253388:exon8:c.A907G:p.T303A,CHL1:NM_001253387:exon9:c.A859G:p.T287A,CHL1:NM_006614:exon10:c.A907G:p.T303A 0.85 0.46 0.95 1. 1. 1. 0.9546 0.5122 0.9749 1 0.9998 0.9983 0.9835 0.9990 0.84 0.52 1. 0.78 0.96 rs13060847 . . . . . . . . . . . . . 0.87 0.036 T 0.095 0.239 B 0.105 0.295 B 0.078 0.211 N 1.000 0.090 P 1.2 0.304 L -0.21 0.663 T -0.98 0.260 N 0.032 0.013 -0.915 0.463 T 0.000 0.000 T . . . 0.735 0.164 9.052 0.811 0.130 0.096 0.151 N c -0.401 -0.306 0.000 0.029 0.487 0.133 0 4.05 0.462 1.189 0.315 1.199 0.960 0.032 0.204 0.862 0.360 5.628 0.167 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9638 0.5003 0.9740 0.9990 1 0.9999 0.9980 0.9765 0.9989 0.8597 0.5094 0.9678 1 1 1 0.9983 0.9756 hom 2757.01 86 3 391100 . A G 2757.01 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.09;MQ0=0;QD=32.06;VQSLOD=8.8602;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2790,217,0 3 436384 436384 A T exonic CHL1 nonsynonymous SNV CHL1:NM_001253388:exon22:c.A2923T:p.T975S,CHL1:NM_001253387:exon23:c.A2875T:p.T959S,CHL1:NM_006614:exon24:c.A2923T:p.T975S 0.003 0.0008 0.0058 . 0.0099 . 0.0062 0.0018 0.0052 0 0.0026 0.0094 0.0011 0.0013 0.0088 0.0027 0.012 0.011 0.0082 rs145162591 . . . . . . . . . . . . . 0.082 0.388 T 0.609 0.377 P 0.565 0.479 P 0.000 0.843 D 1.000 0.588 D 1.205 0.305 L 0.44 0.566 T -2.51 0.545 D 0.056 0.305 -0.843 0.525 T 0.157 0.490 T . . . 4.499 0.602 24.3 0.992 0.537 0.989 0.887 D c 0.344 0.454 1.000 0.747 0.487 0.133 0 5.47 0.803 8.201 0.896 1.140 0.893 1.000 0.715 0.997 0.653 15.509 0.754 Fibronectin type III|Immunoglobulin-like fold . . 0.0065 0.0018 0.0055 0.0095 0 0.0032 0.0103 0.0075 0.0011 0.0061 0.0025 0.0060 0.0199 0 0.0023 0.0095 0.0051 het 272.87 43 3 436384 . A T 272.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.076;DP=43;Dels=0.00;FS=5.159;HRun=0;HaplotypeScore=0.8941;MQ=59.57;MQ0=0;MQRankSum=0.621;QD=6.35;ReadPosRankSum=-1.626;VQSLOD=2.6294;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,13:43:99:303,0,761 3 439963 439963 A G exonic CHL1 nonsynonymous SNV CHL1:NM_001253387:exon24:c.A3100G:p.I1034V,CHL1:NM_006614:exon25:c.A3148G:p.I1050V 0.96 0.85 0.98 1. 1. 1. 0.9883 0.8749 0.9935 1 1 0.9995 0.9945 0.9995 0.96 0.88 1. 0.91 0.98 rs6442827 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.080 B 0.949 0.076 N 1.000 0.090 P 0.455 0.128 N 0.22 0.599 T -0.11 0.087 N 0.018 0.003 -0.995 0.313 T 0.000 0.000 T . . . -0.335 0.066 0.552 0.557 0.053 0.151 0.185 N c -1.280 -1.203 0.000 0.038 0.554 0.246 0 -4.87 0.029 0.900 0.279 -0.462 0.055 0.581 0.274 0.898 0.379 8.232 0.306 . . . 0.9906 0.8713 0.9930 0.9995 1 1 0.9994 0.9930 0.9996 0.9620 0.8671 0.9928 1 1 1 0.9995 0.9980 hom 2092.59 71 3 439963 . A G 2092.59 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=58.19;MQ0=0;QD=29.47;VQSLOD=8.4779;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2126,160,0 3 440028 440028 T C exonic CHL1 synonymous SNV CHL1:NM_001253387:exon24:c.T3165C:p.N1055N,CHL1:NM_006614:exon25:c.T3213C:p.N1071N 0.97 0.89 0.99 1. 1. 1. 0.9917 0.9108 0.9954 1 1 0.9998 0.9945 0.9995 0.97 0.92 1. 0.91 1. rs6771714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9933 0.9062 0.9957 1 1 1 0.9998 0.9954 0.9996 0.9725 0.9033 0.9964 1 1 1 0.9997 0.9980 hom 2907.03 101 3 440028 . T C 2907.03 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.52;MQ0=0;QD=28.78;VQSLOD=8.6261;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:101:99:2940,229,0 3 1262474 1262474 T C exonic CNTN6 synonymous SNV CNTN6:NM_001289080:exon3:c.T159C:p.N53N,CNTN6:NM_001349356:exon3:c.T159C:p.N53N,CNTN6:NM_001349357:exon3:c.T159C:p.N53N,CNTN6:NM_014461:exon3:c.T159C:p.N53N,CNTN6:NM_001349352:exon4:c.T159C:p.N53N,CNTN6:NM_001349353:exon4:c.T159C:p.N53N,CNTN6:NM_001349354:exon4:c.T159C:p.N53N,CNTN6:NM_001349355:exon4:c.T159C:p.N53N,CNTN6:NM_001349350:exon5:c.T159C:p.N53N,CNTN6:NM_001349351:exon5:c.T159C:p.N53N,CNTN6:NM_001349358:exon5:c.T159C:p.N53N 0.47 0.47 0.48 0.51 0.34 0.56 0.4082 0.4436 0.4813 0.4975 0.3620 0.3542 0.4009 0.5256 0.38 0.44 0.35 0.4 0.36 rs2013828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4090 0.4436 0.4715 0.3629 0.5094 0.3607 0.3529 0.4011 0.5238 0.3921 0.4382 0.4651 0.4073 0.5160 0.3899 0.3485 0.3839 het 1158.13 106 3 1262474 . T C 1158.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.015;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9740;MQ=59.43;MQ0=0;MQRankSum=0.352;QD=10.93;ReadPosRankSum=1.507;VQSLOD=6.2630;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,48:106:99:1188,0,1573 3 1424850 1424850 T G exonic CNTN6 synonymous SNV CNTN6:NM_001349357:exon16:c.T2079G:p.S693S,CNTN6:NM_001349358:exon16:c.T1836G:p.S612S,CNTN6:NM_001349359:exon16:c.T1269G:p.S423S,CNTN6:NM_001349360:exon16:c.T1269G:p.S423S,CNTN6:NM_001289081:exon17:c.T2175G:p.S725S,CNTN6:NM_001349356:exon17:c.T2283G:p.S761S,CNTN6:NM_001349362:exon17:c.T1269G:p.S423S,CNTN6:NM_001289080:exon18:c.T2391G:p.S797S,CNTN6:NM_014461:exon18:c.T2391G:p.S797S,CNTN6:NM_001349352:exon19:c.T2391G:p.S797S,CNTN6:NM_001349353:exon19:c.T2391G:p.S797S,CNTN6:NM_001349354:exon19:c.T2391G:p.S797S,CNTN6:NM_001349355:exon19:c.T2391G:p.S797S,CNTN6:NM_001349361:exon19:c.T1269G:p.S423S,CNTN6:NM_001349350:exon20:c.T2391G:p.S797S,CNTN6:NM_001349351:exon20:c.T2391G:p.S797S 0.26 0.039 0.28 0.35 0.39 0.35 0.3547 0.0786 0.3377 0.3563 0.5560 0.3849 0.3772 0.3357 0.28 0.092 0.37 0.23 0.37 rs2291100 COSM4157342 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3604 0.0718 0.3327 0.3424 0.3548 0.5454 0.3808 0.3580 0.3357 0.3226 0.0886 0.3182 0.3411 0.3398 0.5527 0.3968 0.4226 hom 2929.76 93 3 1424850 . T G 2929.76 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;QD=31.50;VQSLOD=9.4582;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2963,247,0 3 3067850 3067850 A G exonic CNTN4 synonymous SNV CNTN4:NM_001206956:exon6:c.A567G:p.L189L,CNTN4:NM_175613:exon6:c.A567G:p.L189L,CNTN4:NM_001206955:exon14:c.A1551G:p.L517L,CNTN4:NM_001350095:exon15:c.A1551G:p.L517L,CNTN4:NM_175607:exon15:c.A1551G:p.L517L 0.15 0.3 0.15 0.1 0.1 0.071 0.1129 0.2883 0.1345 0.1031 0.0774 0.0956 0.1049 0.0772 0.16 0.28 0.1 0.16 0.074 rs7629924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1106 0.2898 0.1302 0.1046 0.1103 0.0754 0.0963 0.1248 0.0773 0.1392 0.2858 0.1146 0.11 0.0959 0.0698 0.0807 0.0857 hom 2182.70 66 3 3067850 . A G 2182.70 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=57.15;MQ0=0;QD=33.07;VQSLOD=6.4820;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2216,175,0 3 3067853 3067853 G A exonic CNTN4 synonymous SNV CNTN4:NM_001206956:exon6:c.G570A:p.P190P,CNTN4:NM_175613:exon6:c.G570A:p.P190P,CNTN4:NM_001206955:exon14:c.G1554A:p.P518P,CNTN4:NM_001350095:exon15:c.G1554A:p.P518P,CNTN4:NM_175607:exon15:c.G1554A:p.P518P 0.14 0.29 0.095 0.09 0.1 0.068 0.1042 0.2845 0.0620 0.0929 0.0774 0.0953 0.1038 0.0726 0.16 0.28 0.099 0.15 0.074 rs7639977 COSM3760038;COSM3760037 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1002 0.2863 0.0668 0.1045 0.0993 0.0754 0.0960 0.1155 0.0734 0.1364 0.2840 0.0621 0.11 0.0845 0.0698 0.0804 0.0827 hom 2145.80 67 3 3067853 . G A 2145.80 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.55;MQ0=0;QD=32.03;VQSLOD=8.3842;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2179,175,0 3 3076443 3076443 A G exonic CNTN4 synonymous SNV CNTN4:NM_001206956:exon8:c.A924G:p.P308P,CNTN4:NM_175613:exon8:c.A927G:p.P309P,CNTN4:NM_001206955:exon16:c.A1911G:p.P637P,CNTN4:NM_001350095:exon17:c.A1911G:p.P637P,CNTN4:NM_175607:exon17:c.A1911G:p.P637P 0.56 0.71 0.54 0.45 0.66 0.39 0.5878 0.6906 0.4798 0.4578 0.7015 0.6422 0.6256 0.3989 0.66 0.69 0.64 0.67 0.58 rs6803232 COSM1685442;COSM1685443 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5878 0.6932 0.5005 0.6411 0.4552 0.6992 0.6424 0.6157 0.4048 0.6543 0.6899 0.5540 0.7086 0.4367 0.7140 0.6499 0.6207 hom 7069.93 244 3 3076443 . A G 7069.93 Mask AC=2;AF=1.00;AN=2;DP=244;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9957;MQ=58.91;MQ0=0;QD=28.98;VQSLOD=8.8714;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,244:244:99:7068,572,0 3 3081825 3081825 T C exonic CNTN4 synonymous SNV CNTN4:NM_001206956:exon11:c.T1281C:p.D427D,CNTN4:NM_175613:exon11:c.T1284C:p.D428D,CNTN4:NM_001206955:exon19:c.T2268C:p.D756D,CNTN4:NM_001350095:exon20:c.T2268C:p.D756D,CNTN4:NM_175607:exon20:c.T2268C:p.D756D 0.9 0.97 0.88 0.88 0.91 0.8 0.8975 0.9619 0.8682 0.8894 0.8810 0.9177 0.8844 0.8073 0.93 0.96 0.91 0.94 0.92 rs339285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8944 0.9629 0.8770 0.9047 0.8853 0.8745 0.9182 0.8983 0.8082 0.9221 0.9577 0.8890 0.9338 0.8926 0.8891 0.9154 0.8971 hom 5922.21 195 3 3081825 . T C 5922.21 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5757;MQ=59.28;MQ0=0;QD=30.37;VQSLOD=8.8234;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:195:99:5889,478,0 3 3170792 3170792 C T exonic TRNT1 nonsynonymous SNV TRNT1:NM_001302946:exon2:c.C68T:p.P23L,TRNT1:NM_182916:exon2:c.C68T:p.P23L 0.9 0.66 0.97 1. 0.99 1. 0.9722 0.7046 0.9829 1 1 0.9988 0.9879 0.9995 0.9 0.71 1. 0.88 0.98 rs334773 . . Benign not_specified RCV000455312.1 MedGen CN169374 . . . . . . 0.734 0.043 T 0.0 0.026 B 0.0 0.013 B 0.380 0.134 N 1.000 0.191 P -2.42 0.001 N 2.11 0.199 T 0.33 0.039 N 0.163 0.213 -1.012 0.264 T 0.000 0.000 T . . . 1.429 0.235 12.94 0.832 0.141 0.110 0.162 N c -1.115 -0.915 1.000 0.458 0.672 0.522 0 3.44 0.383 0.876 0.275 0.154 0.240 0.712 0.285 0.723 0.315 6.448 0.209 . ENSG00000072756.12 Testis 0.9775 0.6967 0.9814 0.9997 1 1 0.9984 0.9850 0.9995 0.9157 0.7073 0.9761 1 1 1 0.9986 0.9786 hom 6155.36 179 3 3170792 . C T 6155.36 Mask AC=2;AF=1.00;AN=2;DP=179;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5416;MQ=59.04;MQ0=0;QD=34.39;VQSLOD=9.0264;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:6155,485,0 3 3189279 3189279 A G exonic TRNT1 synonymous SNV TRNT1:NM_001302946:exon7:c.A888G:p.A296A,TRNT1:NM_182916:exon7:c.A948G:p.A316A 0.74 0.43 0.76 0.95 0.84 0.83 0.7986 0.5047 0.6766 0.9402 0.7995 0.8409 0.8245 0.8158 0.73 0.52 0.84 0.72 0.71 rs1705805 COSM3760047 1(large_intestine) Benign not_specified RCV000424213.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7986 0.4961 0.6866 0.8626 0.9406 0.7978 0.8407 0.8085 0.8168 0.7415 0.5166 0.7242 0.8543 0.9407 0.7980 0.8330 0.7935 hom 2865.75 98 3 3189279 . A G 2865.75 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.237;DP=98;Dels=0.00;FS=4.025;HRun=0;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;MQRankSum=1.591;QD=29.24;ReadPosRankSum=1.202;VQSLOD=4.0974;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,97:98:99:2899,204,0 3 3886580 3886580 A G exonic LRRN1 synonymous SNV LRRN1:NM_020873:exon2:c.A255G:p.A85A,LRRN1:NM_001324188:exon3:c.A255G:p.A85A,LRRN1:NM_001324189:exon3:c.A255G:p.A85A 0.99 0.95 1. 1. 1. 1. 0.9942 0.9478 0.9971 0.9876 1 0.9998 0.9989 0.9999 0.98 0.95 1. 1. 1. rs4685689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9951 0.9462 0.9966 1 0.9872 1.0000 0.9998 0.9978 0.9999 0.9855 0.9526 0.9928 1 0.9858 0.9997 0.9997 0.9980 hom 2567.35 77 3 3886580 . A G 2567.35 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;QD=33.34;VQSLOD=8.9337;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2600,214,0 3 3887876 3887876 T C exonic LRRN1 synonymous SNV LRRN1:NM_020873:exon2:c.T1551C:p.N517N,LRRN1:NM_001324188:exon3:c.T1551C:p.N517N,LRRN1:NM_001324189:exon3:c.T1551C:p.N517N 0.48 0.43 0.57 0.25 0.73 0.45 0.6268 0.4500 0.5394 0.2485 0.8142 0.7309 0.6596 0.4991 0.63 0.46 0.72 0.54 0.75 rs2120609 COSM4415641 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6287 0.4414 0.5460 0.6333 0.2453 0.8143 0.7343 0.6523 0.5054 0.6418 0.4552 0.5695 0.6788 0.2574 0.8140 0.7506 0.7086 hom 6044.14 195 3 3887876 . T C 6044.14 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9881;MQ=59.65;MQ0=0;QD=31.00;VQSLOD=8.1267;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:6043,499,0 3 4403837 4403837 A G exonic SUMF1 synonymous SNV SUMF1:NM_001164674:exon8:c.T1041C:p.T347T,SUMF1:NM_001164675:exon8:c.T1056C:p.T352T,SUMF1:NM_182760:exon9:c.T1116C:p.T372T 0.76 0.92 0.69 0.76 0.59 0.76 0.6440 0.8686 0.7589 0.7685 0.5823 0.5554 0.6333 0.7404 0.65 0.85 0.55 0.78 0.61 rs2633852 COSM3760098 1(thyroid);2(large_intestine) Benign|Benign not_specified|Multiple_sulfatase_deficiency RCV000082714.5|RCV000325033.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268263:272200:ORPHA585:54898003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6426 0.8712 0.7451 0.6056 0.7670 0.5766 0.5519 0.6226 0.7334 0.6427 0.8533 0.7189 0.6490 0.7454 0.5845 0.5222 0.5776 hom 2556.96 77 3 4403837 . A G 2556.96 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9874;MQ=54.96;MQ0=0;QD=33.21;VQSLOD=4.3759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:77:99:2590,205,0 3 4712413 4712413 G A exonic ITPR1 synonymous SNV ITPR1:NM_001168272:exon19:c.G1962A:p.K654K,ITPR1:NM_002222:exon19:c.G1962A:p.K654K,ITPR1:NM_001099952:exon20:c.G2007A:p.K669K 0.61 0.71 0.65 0.37 0.68 0.64 0.6832 0.7075 0.7243 0.4584 0.7231 0.6998 0.6711 0.6572 0.68 0.7 0.67 0.55 . rs2306875 COSM3738005;COSM3738004;COSM3738003 1(haematopoietic_and_lymphoid_tissue);1(soft_tissue) Likely benign|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000117299.2|RCV000369453.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6485 0.6850 0.7146 0.6028 0.3542 0.6950 0.6686 0.6533 0.6372 0.6776 0.6973 0.7041 0.6126 0.3502 0.7032 0.6935 0.7061 het 236.10 16 3 4712413 . G A 236.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.766;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.488;QD=14.76;ReadPosRankSum=-0.705;VQSLOD=6.9040;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,10:16:99:266,0,161 3 4716811 4716811 A C exonic ITPR1 synonymous SNV ITPR1:NM_001168272:exon22:c.A2613C:p.L871L,ITPR1:NM_002222:exon22:c.A2613C:p.L871L,ITPR1:NM_001099952:exon23:c.A2658C:p.L886L 0.33 0.39 0.32 0.29 0.2 0.45 0.2692 0.3684 0.4256 0.2927 0.3001 0.1937 0.2393 0.3831 0.23 0.36 0.18 0.32 . rs2306877 COSM4418242;COSM4418240;COSM4418241 1(haematopoietic_and_lymphoid_tissue) Likely benign|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000117300.2|RCV000323015.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2718 0.3764 0.4172 0.1555 0.2893 0.2992 0.1898 0.2366 0.3740 0.2756 0.3717 0.3496 0.1433 0.2794 0.3093 0.2101 0.2765 het 869.92 81 3 4716811 . A C 869.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.306;DP=81;Dels=0.00;FS=3.523;HRun=1;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;MQRankSum=-1.235;QD=10.74;ReadPosRankSum=0.825;VQSLOD=5.9743;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,35:81:99:900,0,1292 3 4767262 4767262 T C exonic ITPR1 synonymous SNV ITPR1:NM_001168272:exon40:c.T5124C:p.T1708T 0.51 0.43 0.65 0.26 0.79 0.5 0.6893 0.4745 0.5988 0.3215 0.7283 0.8119 0.7243 0.5594 0.71 0.48 0.81 0.6 . rs7613447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6878 0.4649 0.6190 0.7577 0.3169 0.7353 0.8201 0.7194 0.5644 0.6746 0.4766 0.6468 0.7550 0.3255 0.7311 0.8110 0.7240 het 807.28 56 3 4767262 . T C 807.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.139;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.9722;MQ=59.14;MQ0=0;MQRankSum=-0.565;QD=14.42;ReadPosRankSum=-0.699;VQSLOD=4.6555;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:21,34:56:99:837,0,503 3 4817057 4817057 T C exonic ITPR1 synonymous SNV ITPR1:NM_002222:exon43:c.T5922C:p.N1974N,ITPR1:NM_001099952:exon44:c.T5967C:p.N1989N,ITPR1:NM_001168272:exon46:c.T6066C:p.N2022N 0.96 0.95 0.97 0.98 0.97 0.95 0.9701 0.9553 0.9768 0.9870 0.9900 0.9697 0.9667 0.9589 0.97 0.95 0.97 0.98 . rs6442905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9712 0.9543 0.9772 0.9560 0.9871 0.9913 0.9704 0.9619 0.9593 0.9710 0.9552 0.9749 0.9603 0.9846 0.9886 0.9744 0.9735 hom 4956.98 165 3 4817057 . T C 4956.98 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.041;DP=165;Dels=0.00;FS=2.585;HRun=0;HaplotypeScore=5.6076;MQ=59.19;MQ0=0;MQRankSum=-1.536;QD=30.04;ReadPosRankSum=-0.412;VQSLOD=3.7172;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,163:165:99:4911,382,0 3 4829732 4829732 A G exonic ITPR1 synonymous SNV ITPR1:NM_002222:exon48:c.A6528G:p.T2176T,ITPR1:NM_001099952:exon49:c.A6573G:p.T2191T,ITPR1:NM_001168272:exon51:c.A6672G:p.T2224T 0.25 0.27 0.21 0.092 0.32 0.32 0.3294 0.2921 0.2725 0.1089 0.4164 0.3533 0.3480 0.3643 0.3 0.27 0.32 0.22 . rs13079522 COSM3760141;COSM3760142;COSM3760143 1(large_intestine) Likely benign|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000117302.2|RCV000404506.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3015 0.2688 0.2361 0.3127 0.0931 0.3989 0.3278 0.3001 0.3367 0.3175 0.2836 0.2625 0.3046 0.1027 0.4018 0.3422 0.3459 het 178.90 25 3 4829732 . A G 178.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.719;DP=25;Dels=0.00;FS=4.446;HRun=1;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=1.078;QD=7.16;ReadPosRankSum=-1.544;VQSLOD=4.9332;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,8:25:99:209,0,546 3 4856180 4856180 T C exonic ITPR1 synonymous SNV ITPR1:NM_002222:exon54:c.T7446C:p.T2482T,ITPR1:NM_001099952:exon55:c.T7491C:p.T2497T,ITPR1:NM_001168272:exon57:c.T7590C:p.T2530T 0.79 0.68 0.82 0.96 0.84 0.7 0.8244 0.6989 0.8538 0.9664 0.9046 0.8329 0.8322 0.7374 0.8 0.73 0.84 0.75 . rs711631 COSM4415334;COSM4415336;COSM4415335 1(haematopoietic_and_lymphoid_tissue) Likely benign|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000117304.2|RCV000288234.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8292 0.6967 0.8429 0.8072 0.9678 0.9119 0.8330 0.8131 0.7389 0.8222 0.7111 0.8349 0.82 0.9735 0.9174 0.8448 0.8620 hom 4111.53 136 3 4856180 . T C 4111.53 Mask AC=2;AF=1.00;AN=2;DP=136;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7287;MQ=59.56;MQ0=0;QD=30.23;VQSLOD=9.3543;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4110,361,0 3 4856234 4856234 G A exonic ITPR1 synonymous SNV ITPR1:NM_002222:exon54:c.G7500A:p.K2500K,ITPR1:NM_001099952:exon55:c.G7545A:p.K2515K,ITPR1:NM_001168272:exon57:c.G7644A:p.K2548K 0.59 0.53 0.53 0.72 0.59 0.57 0.6054 0.5589 0.5272 0.7220 0.6348 0.6128 0.6161 0.5849 0.6 0.58 0.6 0.58 . rs901854 . . Likely benign|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000117305.2|RCV000379072.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6040 0.5580 0.5246 0.5880 0.7388 0.6417 0.6120 0.6000 0.5870 0.6048 0.5593 0.5721 0.62 0.7522 0.6358 0.6073 0.6368 het 1078.66 88 3 4856234 . G A 1078.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.142;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=0.522;QD=12.26;ReadPosRankSum=0.547;VQSLOD=7.4337;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,42:88:99:1109,0,1412 3 5024771 5024771 T C exonic BHLHE40 synonymous SNV BHLHE40:NM_003670:exon5:c.T633C:p.G211G 0.16 0.086 0.24 0.19 0.15 0.17 0.1720 0.0857 0.2650 0.2122 0.1842 0.1604 0.2007 0.1802 0.13 0.088 0.16 0.16 0.13 rs908078 COSM4158174 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1748 0.0822 0.2577 0.2112 0.2065 0.1725 0.1530 0.1752 0.1811 0.1450 0.0871 0.2243 0.2333 0.1913 0.1676 0.1604 0.1711 het 1431.45 95 3 5024771 . T C 1431.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.314;DP=95;Dels=0.00;FS=3.875;HRun=0;HaplotypeScore=4.4174;MQ=59.51;MQ0=0;MQRankSum=-0.722;QD=15.07;ReadPosRankSum=0.497;VQSLOD=5.1656;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,52:95:99:1461,0,1038 3 5241309 5241309 C A exonic EDEM1 synonymous SNV EDEM1:NM_014674:exon3:c.C615A:p.A205A 0.92 0.86 0.99 0.94 0.97 0.86 0.9547 0.8781 0.9878 0.9394 0.9890 0.9743 0.9791 0.8937 0.94 0.88 0.98 0.86 0.95 rs410509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9586 0.8782 0.9849 0.9709 0.9406 0.9881 0.9748 0.9717 0.8931 0.9477 0.8808 0.9869 0.9667 0.9296 0.9865 0.9752 0.9735 hom 2309.83 77 3 5241309 . C A 2309.83 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=30.00;VQSLOD=9.1147;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2343,178,0 3 6903297 6903297 C T exonic GRM7 synonymous SNV GRM7:NM_000844:exon1:c.C222T:p.N74N,GRM7:NM_181874:exon1:c.C222T:p.N74N 0.42 0.36 0.45 0.32 0.41 0.58 0.4178 0.3518 0.4210 0.3043 0.3978 0.4048 0.4458 0.5670 0.36 0.32 0.38 0.47 0.23 rs3749380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4010 0.3318 0.4061 0.4054 0.2844 0.3668 0.3882 0.3998 0.5627 0.3603 0.3181 0.4115 0.3742 0.2949 0.3625 0.3864 0.3901 hom 1396.83 46 3 6903297 . C T 1396.83 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=30.37;VQSLOD=9.5041;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1430,120,0 3 7620168 7620168 A G exonic GRM7 synonymous SNV GRM7:NM_000844:exon8:c.A1575G:p.L525L,GRM7:NM_181874:exon8:c.A1575G:p.L525L 0.17 0.055 0.26 0.14 0.29 0.17 0.2518 0.0798 0.2930 0.1557 0.4330 0.2832 0.2743 0.1804 0.21 0.084 0.28 0.16 0.25 rs34373930 COSM4417280;COSM4417279;COSM4417281 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2602 0.0781 0.2927 0.2395 0.1549 0.4383 0.2789 0.2645 0.1831 0.2523 0.0897 0.2721 0.2133 0.1642 0.4252 0.3133 0.2939 het 1615.69 129 3 7620168 . A G 1615.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.768;DP=129;Dels=0.00;FS=3.557;HRun=0;HaplotypeScore=5.3821;MQ=59.32;MQ0=0;MQRankSum=0.555;QD=12.52;ReadPosRankSum=0.430;VQSLOD=4.9468;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,59:129:99:1646,0,1747 3 7620382 7620382 C T exonic GRM7 synonymous SNV GRM7:NM_000844:exon8:c.C1789T:p.L597L,GRM7:NM_181874:exon8:c.C1789T:p.L597L 0.17 0.055 0.26 0.14 0.29 0.17 0.2504 0.0796 0.2859 0.1554 0.4330 0.2831 0.2731 0.1765 0.21 0.084 0.28 0.16 0.24 rs7614915 COSM4002823;COSM4002821;COSM4002822 1(bone);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2591 0.0780 0.2880 0.2397 0.1547 0.4382 0.2791 0.2644 0.1793 0.2523 0.0897 0.2721 0.2152 0.1644 0.4255 0.3127 0.2953 het 2437.01 159 3 7620382 . C T 2437.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.385;DP=159;Dels=0.00;FS=2.007;HRun=1;HaplotypeScore=6.7015;MQ=57.73;MQ0=0;MQRankSum=0.723;QD=15.33;ReadPosRankSum=-0.399;VQSLOD=4.3887;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,84:159:99:2467,0,2136 3 7620789 7620789 T C exonic GRM7 synonymous SNV GRM7:NM_000844:exon8:c.T2196C:p.Y732Y,GRM7:NM_181874:exon8:c.T2196C:p.Y732Y 0.53 0.57 0.51 0.44 0.58 0.51 0.5478 0.5686 0.4999 0.4558 0.6314 0.5689 0.5629 0.4966 0.56 0.57 0.56 0.61 0.53 rs1485175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5465 0.5685 0.5085 0.5454 0.4550 0.6309 0.5653 0.5634 0.4968 0.5750 0.5822 0.5191 0.5530 0.4553 0.6174 0.5782 0.5625 hom 3671.83 112 3 7620789 . T C 3671.83 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4653;MQ=59.59;MQ0=0;QD=32.78;VQSLOD=9.5326;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3671,298,0 3 7620828 7620828 G A exonic GRM7 synonymous SNV GRM7:NM_000844:exon8:c.G2235A:p.G745G,GRM7:NM_181874:exon8:c.G2235A:p.G745G 0.17 0.055 0.26 0.14 0.29 0.17 0.2507 0.0797 0.2924 0.1557 0.4330 0.2824 0.2731 0.1767 0.21 0.084 0.28 0.16 0.25 rs1485174 COSM4002824;COSM4002826;COSM4002825 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2593 0.0779 0.2922 0.2397 0.1550 0.4382 0.2783 0.2641 0.1795 0.2523 0.0897 0.2703 0.2152 0.1642 0.4255 0.3126 0.2961 het 2329.20 149 3 7620828 . G A 2329.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.296;DP=149;Dels=0.00;FS=1.376;HRun=0;HaplotypeScore=1.8317;MQ=59.54;MQ0=0;MQRankSum=-0.145;QD=15.63;ReadPosRankSum=0.258;VQSLOD=6.6719;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,89:149:99:2359,0,1583 3 8787220 8787220 T C exonic CAV3 synonymous SNV CAV3:NM_001234:exon2:c.T123C:p.F41F,CAV3:NM_033337:exon2:c.T123C:p.F41F 0.15 0.28 0.13 0.014 0.23 0.053 0.1886 0.2890 0.0844 0.0059 0.2622 0.2372 0.1726 0.0671 0.26 0.28 0.24 0.16 0.12 rs13087941 COSM1131343 1(prostate) not provided|other|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_provided|not_specified|Cardiovascular_phenotype|Romano-Ward_syndrome|Long_QT_syndrome|Hypertrophic_cardiomyopathy|Caveolinopathy|Limb-Girdle_Muscular_Dystrophy\x2c_Dominant RCV000024401.3|RCV000039797.11|RCV000246688.1|RCV000271441.1|RCV000310948.1|RCV000326617.1|RCV000366101.1|RCV000393888.1 MedGen|MedGen|MedGen|MedGen:SNOMED_CT|MedGen:SNOMED_CT|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:Orphanet|MedGen CN221809|CN169374|CN230736|CN119492:20852007|C0023976:9651007|HP:0001639:C0007194:ORPHA217569|CN043575:ORPHA207078|CN239426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1828 0.2925 0.1011 0.1519 0.0065 0.2614 0.2384 0.1849 0.0675 0.2411 0.2882 0.1158 0.1358 0.0142 0.2574 0.2446 0.2264 het 1275.42 79 3 8787220 . T C 1275.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.435;DP=79;Dels=0.00;FS=1.928;HRun=0;HaplotypeScore=2.6732;MQ=57.40;MQ0=0;MQRankSum=3.017;QD=16.14;ReadPosRankSum=0.356;VQSLOD=3.2490;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,48:79:99:1305,0,715 3 8809184 8809184 G A exonic OXTR synonymous SNV OXTR:NM_000916:exon3:c.C690T:p.N230N 0.25 0.31 0.23 0.055 0.33 0.29 0.3167 0.3465 0.2235 0.0496 0.3032 0.3634 0.3085 0.3124 0.33 0.3 0.34 0.065 0.26 rs237902 COSM447068 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2881 0.3102 0.2091 0.3366 0.0426 0.2718 0.3439 0.3089 0.3008 0.2961 0.3085 0.2117 0.3433 0.0395 0.2722 0.3270 0.2806 hom 1025.12 30 3 8809184 . G A 1025.12 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;QD=34.17;VQSLOD=9.4826;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:87.26:1058,87,0 3 8809703 8809703 G A exonic OXTR synonymous SNV OXTR:NM_000916:exon3:c.C171T:p.N57N 0.72 0.64 0.59 0.73 0.76 0.86 0.7540 0.6619 0.6215 0.7387 0.8010 0.7670 0.7507 0.8333 0.72 0.65 0.76 . 0.64 rs2228485 COSM4158672 1(breast);1(liver);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7341 0.6376 0.5896 0.7542 0.7254 0.7837 0.7557 0.7352 0.8267 0.7164 0.6456 0.6075 0.7351 0.7370 0.7769 0.7454 0.7398 hom 510.28 16 3 8809703 . G A 510.28 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.89;VQSLOD=14.1789;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:45.13:543,45,0 3 8955389 8955389 C T exonic RAD18 nonsynonymous SNV RAD18:NM_020165:exon8:c.G905A:p.R302Q 0.65 0.65 0.71 0.36 0.76 0.77 0.6951 0.6658 0.6327 0.3532 0.7655 0.7335 0.7291 0.7529 0.7 0.67 0.72 0.73 0.51 rs373572 COSM5653959 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.617 0.053 T 0.001 0.067 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -1.61 0.004 N 1.85 0.245 T -0.25 0.110 N 0.019 0.004 -0.988 0.331 T 0.000 0.000 T . . . 3.782 0.511 23.4 0.639 0.071 0.021 0.062 N c -0.894 -0.595 0.999 0.392 0.651 0.465 0 4.47 0.536 2.249 0.426 0.154 0.240 1.000 0.715 0.998 0.697 7.022 0.239 . ENSG00000180914.6 Nerve_Tibial 0.6847 0.6564 0.6228 0.7221 0.3349 0.7660 0.7259 0.6969 0.7340 0.6904 0.6630 0.6631 0.7550 0.3531 0.7584 0.7244 0.7270 hom 2060.58 73 3 8955389 . C T 2060.58 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=28.23;VQSLOD=8.1527;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2094,160,0 3 9099989 9099989 A G exonic SRGAP3 synonymous SNV SRGAP3:NM_001033117:exon7:c.T969C:p.N323N,SRGAP3:NM_014850:exon7:c.T969C:p.N323N 0.017 0.0015 0.048 . 0.033 0.016 0.0319 0.0089 0.0231 0 0.0310 0.0434 0.0319 0.0231 0.037 0.01 0.051 0.011 0.049 rs61747289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0335 0.0096 0.0250 0.0766 0 0.03 0.0442 0.0365 0.0226 0.0309 0.0099 0.0310 0.0629 0 0.0343 0.0457 0.0204 het 3218.59 250 3 9099989 . A G 3218.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.665;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7296;MQ=59.67;MQ0=0;MQRankSum=-0.875;QD=12.87;ReadPosRankSum=-0.225;VQSLOD=5.9754;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:131,119:250:99:3249,0,3414 3 9425944 9425944 G C exonic THUMPD3 synonymous SNV THUMPD3:NM_001114092:exon9:c.G1284C:p.R428R,THUMPD3:NM_015453:exon9:c.G1284C:p.R428R 0.11 0.035 0.22 0.061 0.19 0.08 0.1491 0.0575 0.2338 0.0982 0.2504 0.1588 0.1586 0.0937 0.12 0.061 0.15 0.098 0.12 rs1046788 COSM4002835 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1549 0.0553 0.2282 0.0911 0.0930 0.2561 0.1584 0.1648 0.0919 0.1376 0.0540 0.2225 0.1126 0.1011 0.2619 0.1545 0.1772 het 2432.26 249 3 9425944 . G C 2432.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.495;DP=249;DS;Dels=0.00;FS=4.476;HRun=0;HaplotypeScore=4.7707;MQ=59.46;MQ0=0;MQRankSum=0.369;QD=9.77;ReadPosRankSum=0.014;VQSLOD=4.6911;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:147,102:249:99:2462,0,4513 3 9426224 9426224 G A exonic THUMPD3 nonsynonymous SNV THUMPD3:NM_001114092:exon10:c.G1376A:p.R459Q,THUMPD3:NM_015453:exon10:c.G1376A:p.R459Q 0.1 0.04 0.22 0.06 0.19 0.068 0.1481 0.0631 0.2332 0.0980 0.2502 0.1584 0.1564 0.0849 0.12 0.066 0.15 0.098 0.14 rs1129174 COSM1425728 1(breast);2(large_intestine) . . . . . . . . . . . 0.122 0.276 T 0.056 0.214 B 0.022 0.184 B 0.000 0.629 D 0.758 0.295 P 0.695 0.181 N 0.97 0.425 T -0.34 0.127 N 0.041 0.192 -1.041 0.170 T 0.000 0.000 T . . . 3.630 0.494 23.2 0.996 0.711 0.943 0.605 D c -0.317 -0.123 1.000 0.747 0.672 0.522 0 4.8 0.610 5.446 0.661 1.048 0.713 1.000 0.715 0.998 0.697 14.284 0.656 Putative RNA methylase domain|S-adenosyl-L-methionine-dependent methyltransferase ENSG00000196220.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000196220.11|ENSG00000134077.11|ENSG00000168137.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Whole_Blood 0.1539 0.0613 0.2280 0.0890 0.0926 0.2560 0.1581 0.1636 0.0835 0.1386 0.0586 0.2231 0.1093 0.0995 0.2615 0.1541 0.1776 het 4008.59 250 3 9426224 . G A 4008.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.626;DP=250;DS;Dels=0.00;FS=3.752;HRun=1;HaplotypeScore=1.9970;MQ=59.50;MQ0=0;MQRankSum=0.080;QD=16.03;ReadPosRankSum=1.491;VQSLOD=6.0001;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:130,120:250:99:3333,0,3368 3 9786819 9786819 C T exonic BRPF1 synonymous SNV BRPF1:NM_001319049:exon9:c.C2745T:p.S915S,BRPF1:NM_001003694:exon10:c.C3048T:p.S1016S,BRPF1:NM_001319050:exon10:c.C3027T:p.S1009S,BRPF1:NM_004634:exon10:c.C3030T:p.S1010S 0.0002 . . 0.001 . . 0.0005 9.762e-05 0.0003 0.0002 0 0.0007 0 0.0001 0.0002 0.0002 0.0002 . . rs200855358 COSM4981827 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 6.539e-05 8.937e-05 0.0013 0.0002 0 0.0007 0.0005 6.498e-05 0.0003 0.0002 0 0 0.0006 0.0003 0.0003 0 het 1050.59 81 3 9786819 . C T 1050.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.432;DP=81;Dels=0.00;FS=3.398;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;MQRankSum=-0.572;QD=12.97;ReadPosRankSum=0.855;VQSLOD=4.0075;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,39:81:99:1081,0,1081 3 9867625 9867625 C T exonic ARPC4-TTLL3;TTLL3 synonymous SNV TTLL3:NM_001025930:exon8:c.C1296T:p.R432R,ARPC4-TTLL3:NM_001198793:exon9:c.C1050T:p.R350R 0.47 0.56 0.44 0.21 0.72 0.4 0.5873 0.5823 0.3354 0.1852 0.7767 0.6957 0.6313 0.4597 0.65 0.58 0.68 0.56 0.61 rs3732527 COSM3760294;COSM3760293 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5802 0.5852 0.3587 0.6721 0.1808 0.7734 0.6947 0.6104 0.4606 0.6451 0.5960 0.4141 0.67 0.1729 0.7686 0.7069 0.6646 hom 3412.52 108 3 9867625 . C T 3412.52 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.79;MQ0=0;QD=31.60;VQSLOD=9.6039;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,107:108:99:3412,274,0 3 9870857 9870857 G A exonic ARPC4-TTLL3;TTLL3 synonymous SNV TTLL3:NM_001025930:exon10:c.G1761A:p.Q587Q,ARPC4-TTLL3:NM_001198793:exon11:c.G1515A:p.Q505Q 0.27 0.13 0.31 0.16 0.57 0.25 0.4057 0.1750 0.2387 0.1388 0.5142 0.5182 0.4625 0.3063 0.39 0.18 0.5 0.33 0.48 rs2290303 COSM3760296;COSM3760295 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4078 0.1738 0.2594 0.5816 0.1358 0.5126 0.5150 0.4428 0.3133 0.3847 0.1861 0.2914 0.5861 0.1307 0.5109 0.4969 0.4246 het 1810.61 147 3 9870857 . G A 1810.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.902;DP=147;Dels=0.00;FS=1.311;HRun=1;HaplotypeScore=3.7855;MQ=58.69;MQ0=1;MQRankSum=0.458;QD=12.32;ReadPosRankSum=0.612;VQSLOD=5.8368;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,69:147:99:1841,0,2160 3 9871030 9871030 T G exonic ARPC4-TTLL3;TTLL3 nonsynonymous SNV TTLL3:NM_001025930:exon10:c.T1934G:p.M645R,ARPC4-TTLL3:NM_001198793:exon11:c.T1688G:p.M563R 0.48 0.56 0.46 0.22 0.73 0.42 0.6004 0.5872 0.3451 0.1898 0.7777 0.7111 0.6565 0.4817 0.66 0.58 0.7 0.56 0.57 rs2290305 COSM4158696;COSM447135 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.037 0.244 N 1 0.090 P -1.295 0.007 N 3.69 0.041 T 3.67 0.001 N 0.156 0.414 -0.994 0.315 T 0.000 0.000 T . . . 0.895 0.179 10.05 0.622 0.067 0.035 0.086 N c -1.030 -0.792 0.998 0.367 0.707 0.730 0 4.14 0.477 2.348 0.435 0.125 0.212 0.081 0.222 0.963 0.446 2.655 0.047 . ENSG00000156990.10 Testis 0.5924 0.5880 0.3705 0.7140 0.1860 0.7750 0.7082 0.6268 0.4740 0.6537 0.5994 0.4320 0.7086 0.1795 0.7706 0.7187 0.6789 hom 6907.91 223 3 9871030 . T G 6907.91 Mask AC=2;AF=1.00;AN=2;DP=223;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5167;MQ=59.75;MQ0=0;QD=30.98;VQSLOD=7.9722;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:223:99:6907,536,0 3 9876919 9876919 G A exonic TTLL3 nonsynonymous SNV TTLL3:NM_001025930:exon13:c.G2494A:p.A832T 0.13 0.26 0.11 0.057 0.12 0.08 0.1475 0.2420 0.0876 0.0491 0.2492 0.1628 0.1514 0.0822 0.18 0.23 0.16 0.18 0.13 rs1057278 . . . . . . . . . . . . . 0.0 0.912 D 0.009 0.139 B 0.004 0.093 B 0.009 0.012 N 0.000 0.490 P 0.69 0.170 N 3.38 0.058 T -0.96 0.255 N 0.115 0.126 -0.922 0.453 T 0.000 0.000 T . . . 2.541 0.367 19.73 0.996 0.768 0.458 0.274 N c -0.729 -0.654 0.934 0.271 0.707 0.730 0 0.904 0.184 0.611 0.238 1.048 0.713 0.953 0.330 0.886 0.372 6.033 0.188 . ENSG00000171148.9|ENSG00000171148.9 Nerve_Tibial|Whole_Blood 0.1435 0.2473 0.0862 0.0693 0.0458 0.2457 0.1645 0.1442 0.0819 0.2032 0.2498 0.1089 0.0662 0.0476 0.2471 0.1905 0.2067 het 1301.58 98 3 9876919 . G A 1301.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.350;DP=98;Dels=0.00;FS=4.144;HRun=0;HaplotypeScore=3.2422;MQ=59.53;MQ0=0;MQRankSum=0.874;QD=13.28;ReadPosRankSum=0.114;VQSLOD=5.9809;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,49:98:99:1332,0,1371 3 9876987 9876987 G A exonic TTLL3 synonymous SNV TTLL3:NM_001025930:exon13:c.G2562A:p.R854R 0.12 0.21 0.1 0.057 0.12 0.073 0.1391 0.1977 0.0817 0.0488 0.2484 0.1577 0.1462 0.0728 0.17 0.19 0.16 0.16 0.12 rs1057281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1365 0.2024 0.0835 0.0640 0.0484 0.2443 0.1599 0.1346 0.0717 0.1887 0.2062 0.0967 0.0563 0.0475 0.2451 0.1875 0.2020 het 1212.18 80 3 9876987 . G A 1212.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.130;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5310;MQ=59.19;MQ0=0;MQRankSum=0.370;QD=15.15;ReadPosRankSum=0.943;VQSLOD=6.4037;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,44:80:99:1242,0,981 3 9934605 9934605 T C exonic JAGN1 synonymous SNV JAGN1:NM_032492:exon2:c.T96C:p.T32T 0.69 0.68 0.63 0.72 0.71 0.68 0.6885 0.6857 0.6175 0.7286 0.7070 0.7001 0.6789 0.6642 0.69 0.69 0.69 0.63 0.57 rs279553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6824 0.6846 0.6118 0.6618 0.7313 0.7076 0.7000 0.6950 0.6537 0.6920 0.6817 0.6304 0.6467 0.7466 0.6934 0.6967 0.6840 hom 1781.05 52 3 9934605 . T C 1781.05 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.11;MQ0=0;QD=34.25;VQSLOD=10.0043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1814,141,0 3 9934753 9934753 A G exonic JAGN1 nonsynonymous SNV JAGN1:NM_032492:exon2:c.A244G:p.I82V 0.013 . 0.029 . 0.037 0.0092 0.0231 0.0064 0.0170 0 0.0080 0.0351 0.0319 0.0074 0.025 0.0061 0.035 0.022 0.041 rs35365817 . . . . . . . . . . . . . 0.13 0.267 T 0.078 0.229 B 0.091 0.284 B 0.012 0.293 N 0.999 0.451 D 2.32 0.666 M . . . -0.54 0.166 N 0.049 0.030 -1.010 0.270 T 0.076 0.304 T . . . 0.830 0.173 9.646 0.962 0.284 0.911 0.526 D c -0.281 -0.220 0.999 0.398 0.722 0.854 0 -0.009 0.133 2.578 0.455 -0.165 0.106 1.000 0.715 0.984 0.507 5.783 0.175 . . . 0.0226 0.0063 0.0157 0.0178 0 0.0112 0.0372 0.0232 0.0073 0.0194 0.0077 0.0167 0.0232 0 0.0089 0.0305 0.0244 het 859.87 78 3 9934753 . A G 859.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.758;DP=78;Dels=0.00;FS=0.887;HRun=0;HaplotypeScore=1.8606;MQ=59.70;MQ0=0;MQRankSum=0.368;QD=11.02;ReadPosRankSum=1.597;VQSLOD=6.0587;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,34:78:99:890,0,1272 3 9952706 9952706 A G exonic IL17RE synonymous SNV IL17RE:NM_153481:exon7:c.A612G:p.T204T,IL17RE:NM_001193380:exon9:c.A960G:p.T320T,IL17RE:NM_153480:exon9:c.A960G:p.T320T,IL17RE:NM_153483:exon10:c.A1080G:p.T360T 0.43 0.64 0.47 0.094 0.55 0.33 0.4842 0.6224 0.4451 0.0815 0.5901 0.5430 0.5022 0.3548 0.57 0.62 0.54 0.45 0.5 rs279572 COSM4158703;COSM4158701;COSM4158702 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4803 0.6225 0.4409 0.4722 0.0822 0.5908 0.5459 0.5179 0.3533 0.5465 0.6173 0.4833 0.5033 0.0871 0.5765 0.5543 0.5154 hom 3184.43 104 3 9952706 . A G 3184.43 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.631;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2440;MQ=58.66;MQ0=0;MQRankSum=-0.252;QD=30.62;ReadPosRankSum=0.286;VQSLOD=8.1449;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,103:104:99:3217,271,0 3 9956279 9956279 G A exonic IL17RE nonsynonymous SNV IL17RE:NM_001193380:exon14:c.G1417A:p.G473R 0.36 0.41 0.46 0.093 0.54 0.32 0.4609 0.4018 0.4368 0.0802 0.5853 0.5380 0.4945 0.3511 0.49 0.42 0.53 0.32 0.43 rs455863 . . . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.473 P . . . 1.52 0.307 T 0.66 0.023 N . . -0.993 0.317 T 0.000 0.000 T . . . 0.569 0.148 7.939 0.807 0.129 0.012 0.043 N c -2.158 -2.305 1.0 0.983 0.658 0.486 0 -9.87 0.004 -4.328 0.003 -2.481 0.003 0.000 0.063 0.963 0.446 6.235 0.198 . ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163703.13|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163703.13|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4610 0.4004 0.4303 0.4602 0.0798 0.5870 0.5412 0.5035 0.3492 0.4833 0.4049 0.4652 0.4967 0.0865 0.5743 0.5501 0.5031 hom 5934.29 189 3 9956279 . G A 5934.29 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8513;MQ=59.16;MQ0=0;QD=31.40;VQSLOD=9.2206;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,188:189:99:5908,457,0 3 9957455 9957455 C T exonic IL17RE synonymous SNV IL17RE:NM_153481:exon14:c.C1620T:p.L540L,IL17RE:NM_153480:exon16:c.C1968T:p.L656L,IL17RE:NM_153483:exon17:c.C2088T:p.L696L 0.34 0.38 0.44 0.093 0.49 0.31 0.4766 0.4312 0.4529 0.1043 0.6091 0.5325 0.5241 0.4108 0.41 0.35 0.44 0.3 0.35 rs1056286 COSM4158705;COSM4158704 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4162 0.3582 0.3796 0.3914 0.0728 0.5389 0.4906 0.4630 0.3185 0.4478 0.3802 0.4366 0.4371 0.0868 0.5391 0.5040 0.4703 hom 501.78 16 3 9957455 . C T 501.78 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=31.36;VQSLOD=8.6235;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:42.13:535,42,0 3 9959713 9959713 C T exonic IL17RC synonymous SNV IL17RC:NM_001203263:exon3:c.C234T:p.T78T,IL17RC:NM_001203264:exon3:c.C234T:p.T78T,IL17RC:NM_001203265:exon3:c.C234T:p.T78T,IL17RC:NM_032732:exon3:c.C234T:p.T78T,IL17RC:NM_153460:exon3:c.C234T:p.T78T,IL17RC:NM_153461:exon3:c.C447T:p.T149T 0.076 0.0091 0.12 0.015 0.19 0.086 0.1945 0.0457 0.1552 0.0243 0.3034 0.2510 0.1958 0.1122 0.15 0.046 0.21 0.033 0.057 rs4686383 COSM3760305 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1528 0.0346 0.1115 0.1343 0.0146 0.2245 0.2065 0.1582 0.0947 0.1582 0.0405 0.1259 0.1325 0.0154 0.2310 0.2255 0.1922 het 507.22 34 3 9959713 . C T 507.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.374;DP=34;Dels=0.00;FS=2.210;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.689;QD=14.92;ReadPosRankSum=0.310;VQSLOD=6.5619;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,17:34:99:537,0,442 3 9960070 9960070 C T exonic IL17RC nonsynonymous SNV IL17RC:NM_001203263:exon4:c.C332T:p.S111L,IL17RC:NM_001203264:exon4:c.C332T:p.S111L,IL17RC:NM_001203265:exon4:c.C332T:p.S111L,IL17RC:NM_032732:exon4:c.C332T:p.S111L,IL17RC:NM_153460:exon4:c.C332T:p.S111L,IL17RC:NM_153461:exon4:c.C545T:p.S182L 0.39 0.5 0.47 0.093 0.54 0.32 0.5119 0.5186 0.4995 0.1157 0.6215 0.5707 0.5147 0.3908 0.52 0.49 0.53 0.36 0.42 rs708567 COSM4158706 1(bone);1(thyroid) . . . . . . . . . . . 0.122 0.294 T 0.0 0.238 B 0.0 0.206 B 0.899 0.086 N 1 0.090 P -0.455 0.028 N 2.27 0.174 T -1.82 0.446 N 0.04 0.095 -0.938 0.429 T 0.000 0.000 T . . . -0.042 0.090 2.201 0.732 0.099 0.016 0.051 N c -1.239 -1.239 1.000 0.405 0.706 0.609 0 -0.28 0.122 -0.702 0.051 0.058 0.164 0.000 0.063 0.003 0.074 4.023 0.091 Interleukin-17 receptor C/E\x2c N-terminal ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000171135.10|ENSG00000171135.10|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163703.13|ENSG00000171135.10|ENSG00000163702.14|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163703.13|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163703.13|ENSG00000163703.13|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4640 0.4722 0.4313 0.4595 0.0802 0.5864 0.5394 0.5038 0.3517 0.5059 0.4811 0.4700 0.5 0.0866 0.5728 0.5516 0.5154 hom 697.47 21 3 9960070 . C T 697.47 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.21;VQSLOD=13.8620;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:57.18:730,57,0 3 9970031 9970031 A G exonic IL17RC nonsynonymous SNV IL17RC:NM_001203265:exon10:c.A875G:p.Q292R,IL17RC:NM_032732:exon10:c.A875G:p.Q292R,IL17RC:NM_001203263:exon11:c.A920G:p.Q307R,IL17RC:NM_001203264:exon11:c.A920G:p.Q307R,IL17RC:NM_153460:exon11:c.A920G:p.Q307R,IL17RC:NM_153461:exon11:c.A1133G:p.Q378R 1. 1. 1. 1. 0.99 1. 0.9957 0.9982 0.9955 0.9999 0.9991 0.9939 0.9967 0.9980 1. 1. 0.99 0.84 0.89 rs279549 . . . . . . . . . . . . . 1.0 0.020 T 0.0 0.026 B 0.001 0.040 B 0.412 0.130 N 1 0.090 P -0.95 0.013 N 2.69 0.123 T 0.0 0.121 N 0.249 0.304 -0.971 0.370 T 0.000 0.000 T . . . -1.505 0.017 0.003 0.097 0.001 0.024 0.067 N c -1.417 -1.352 0.998 0.368 0.696 0.567 0 1.66 0.230 -1.078 0.035 -0.231 0.094 0.000 0.063 0.007 0.100 6.997 0.238 Interleukin-17 receptor C/E\x2c N-terminal . . 0.9954 0.9985 0.9948 0.9943 0.9999 0.9993 0.9931 0.9968 0.9979 0.9965 0.9991 0.9952 0.9967 1 0.9986 0.9942 0.9980 hom 3146.27 103 3 9970031 . A G 3146.27 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.46;MQ0=0;QD=30.55;VQSLOD=8.4770;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,102:103:99:3179,262,0 3 9970158 9970158 C T exonic IL17RC synonymous SNV IL17RC:NM_001203265:exon10:c.C1002T:p.N334N,IL17RC:NM_032732:exon10:c.C1002T:p.N334N,IL17RC:NM_001203263:exon11:c.C1047T:p.N349N,IL17RC:NM_001203264:exon11:c.C1047T:p.N349N,IL17RC:NM_153460:exon11:c.C1047T:p.N349N,IL17RC:NM_153461:exon11:c.C1260T:p.N420N 0.15 0.14 0.19 0.018 0.3 0.15 0.2175 0.1582 0.1574 0.0183 0.2545 0.2721 0.2578 0.1622 0.23 0.16 0.26 0.12 0.22 rs279548 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2157 0.1524 0.1620 0.3568 0.0183 0.2592 0.2641 0.2529 0.1602 0.2078 0.1526 0.1763 0.3742 0.0148 0.2532 0.2476 0.2239 het 3960.29 204 3 9970158 . C T 3960.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.785;DP=204;Dels=0.00;FS=5.767;HRun=0;HaplotypeScore=3.3622;MQ=59.48;MQ0=0;MQRankSum=0.514;QD=19.41;ReadPosRankSum=-0.993;VQSLOD=3.9143;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,114:204:99:3342,0,2500 3 9975247 9975247 C G exonic IL17RC synonymous SNV IL17RC:NM_001203264:exon17:c.C2043G:p.G681G,IL17RC:NM_001203265:exon17:c.C2037G:p.G679G,IL17RC:NM_001203263:exon18:c.C2094G:p.G698G,IL17RC:NM_032732:exon18:c.C2088G:p.G696G,IL17RC:NM_153460:exon19:c.C2133G:p.G711G,IL17RC:NM_153461:exon19:c.C2346G:p.G782G 0.99 0.97 0.99 1. 0.98 0.99 0.9896 0.9770 0.9933 0.9972 0.9976 0.9890 0.9851 0.9883 0.99 0.99 0.99 0.98 0.22 rs183956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9895 0.9784 0.9914 0.9896 0.9969 0.9980 0.9879 0.9925 0.9874 0.9868 0.9774 0.9881 0.9967 0.9957 0.9974 0.9883 0.9918 hom 481.43 16 3 9975247 . C G 481.43 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=54.31;MQ0=0;QD=30.09;VQSLOD=7.3478;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:39.13:514,39,0 3 9976159 9976159 A G exonic CRELD1 nonsynonymous SNV CRELD1:NM_015513:exon1:c.A37G:p.M13V,CRELD1:NM_001031717:exon2:c.A37G:p.M13V,CRELD1:NM_001077415:exon2:c.A37G:p.M13V 1. 1. 1. 1. 0.98 1. 0.9916 0.9979 0.9940 0.9999 0.9976 0.9889 0.9889 0.9900 0.99 1. 0.99 1. 0.96 rs279552 . . Benign|Benign not_specified|Atrioventricular_septal_defect_2 RCV000124609.1|RCV000462748.1 MedGen|MedGen:OMIM CN169374|C1853508:606217 . . . . . . 0.553 0.077 T 0.0 0.026 B 0.0 0.013 B 0.141 0.183 N 1 0.090 P -0.345 0.033 N 0.27 0.609 T -0.11 0.087 N 0.071 0.074 -1.007 0.279 T 0.000 0.000 T . . . -1.779 0.011 0.002 0.677 0.082 0.026 0.070 N c -1.564 -1.524 1.000 0.747 0.733 0.969 0 0.328 0.151 -0.403 0.072 -0.416 0.060 0.000 0.063 0.512 0.273 1.196 0.017 . . . 0.9913 0.9979 0.9925 0.9894 0.9999 0.9981 0.9880 0.9943 0.9890 0.9930 0.9979 0.9928 0.9967 1 0.9974 0.9883 0.9929 hom 3457.85 113 3 9976159 . A G 3457.85 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4588;MQ=59.15;MQ0=0;QD=30.60;VQSLOD=7.3227;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,112:113:99:3457,268,0 3 9991388 9991388 G C exonic PRRT3 nonsynonymous SNV PRRT3:NM_001318871:exon2:c.C412G:p.Q138E,PRRT3:NM_207351:exon2:c.C412G:p.Q138E 0.97 1. 0.98 0.97 0.97 0.91 0.9633 0.9945 0.9794 0.9652 0.9474 0.9739 0.9489 0.8966 0.98 1. 0.97 0.98 0.97 rs279601 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.333 N 1 0.090 P -1.445 0.006 N 2.9 0.130 T 0.3 0.041 N 0.021 0.005 -0.989 0.328 T 0.000 0.000 T . . . -2.265 0.005 0.001 0.539 0.049 0.001 0.007 N c -1.310 -1.223 0.999 0.379 0.672 0.522 0 3.52 0.393 0.389 0.203 -0.331 0.074 0.002 0.151 0.047 0.162 6.982 0.237 . . . 0.9637 0.9954 0.9797 0.9672 0.9652 0.9477 0.9747 0.9710 0.8990 0.9742 0.9936 0.9785 0.9768 0.9654 0.9499 0.9701 0.9603 hom 4966.86 147 3 9991388 . G C 4966.86 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.72;MQ0=0;QD=33.79;VQSLOD=9.0339;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4966,391,0 3 10123089 10123089 C T exonic FANCD2 synonymous SNV FANCD2:NM_001018115:exon32:c.C3165T:p.Y1055Y,FANCD2:NM_001319984:exon32:c.C3165T:p.Y1055Y,FANCD2:NM_033084:exon32:c.C3165T:p.Y1055Y . . . . . . 9.06e-05 9.61e-05 0 0 0 0.0001 0 0 0.0002 0.0002 0.0002 . . rs375929975 COSM1593185;COSM1035786 1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 6.534e-05 0 0 0 4.484e-05 0.0002 0 0 0.0002 0.0002 0 0 0 0 0.0002 0 het 2140.44 190 3 10123089 . C T 2140.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.842;DP=190;Dels=0.00;FS=0.548;HRun=0;HaplotypeScore=8.3437;MQ=59.17;MQ0=0;MQRankSum=-1.252;QD=11.27;ReadPosRankSum=0.129;VQSLOD=2.4095;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,86:190:99:2170,0,2790 3 10264480 10264480 C G exonic IRAK2 nonsynonymous SNV IRAK2:NM_001570:exon9:c.C1174G:p.L392V 0.29 0.21 0.46 0.13 0.42 0.29 0.3612 0.2334 0.4692 0.1199 0.3484 0.4040 0.3568 0.3249 0.36 0.23 0.42 0.34 0.45 rs3844283 COSM4002358;COSM4002357 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.998 0.875 D 0.002 0.383 N 0.000 0.537 P 1.51 0.383 L 1.35 0.346 T -2.72 0.579 D 0.167 0.202 -0.918 0.459 T 0.000 0.000 T . . . 4.428 0.593 24.2 0.999 0.934 0.864 0.454 D c 0.579 0.549 1.000 0.473 0.615 0.372 0 5.14 0.699 1.675 0.369 0.847 0.346 1.000 0.715 0.987 0.523 14.105 0.645 Protein kinase domain|Protein kinase-like domain ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3 Artery_Coronary|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.3690 0.2295 0.4722 0.3673 0.1148 0.3468 0.4132 0.3761 0.3232 0.3420 0.2404 0.4296 0.3510 0.1259 0.3592 0.4139 0.3663 hom 5868.92 180 3 10264480 . C G 5868.92 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6939;MQ=59.64;MQ0=0;QD=32.61;VQSLOD=8.1043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:5868,460,0 3 10276163 10276163 T A exonic IRAK2 nonsynonymous SNV IRAK2:NM_001570:exon11:c.T1293A:p.D431E 0.83 0.78 0.81 0.99 0.65 0.92 0.7264 0.7705 0.8409 0.9960 0.6245 0.6362 0.7124 0.8826 0.68 0.76 0.63 0.83 0.62 rs708035 COSM445234;COSM445233 1(breast);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.090 P -1.61 0.004 N -0.1 0.643 T 2.36 0.003 N 0.066 0.052 -0.985 0.340 T 0.000 0.000 T . . . 1.005 0.190 10.69 0.610 0.064 0.127 0.172 N c -1.208 -0.968 0.999 0.378 0.651 0.465 0 -1.06 0.094 0.297 0.187 -0.508 0.051 0.998 0.411 0.327 0.242 5.644 0.167 Protein kinase domain|Protein kinase-like domain ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3|ENSG00000240288.3|ENSG00000157017.11|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.7284 0.7744 0.8294 0.6878 0.9964 0.6254 0.6350 0.6875 0.8784 0.6909 0.7672 0.7885 0.6722 0.9969 0.6309 0.6223 0.6894 hom 2336.66 80 3 10276163 . T A 2336.66 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9243;MQ=58.77;MQ0=0;QD=29.21;VQSLOD=7.6900;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2370,181,0 3 10302172 10302172 G A exonic TATDN2 nonsynonymous SNV TATDN2:NM_014760:exon3:c.G766A:p.V256I 0.6 0.37 0.42 0.96 0.43 0.81 0.5061 0.3815 0.4159 0.9808 0.4421 0.4206 0.5167 0.7683 0.39 0.37 0.4 0.54 0.29 rs394558 COSM5904776 1(skin) . . . . . . . . . . . 0.599 0.056 T 0.027 0.182 B 0.006 0.112 B 0.383 0.134 N 1 0.090 P 1.21 0.306 L 1.81 0.252 T -0.12 0.088 N 0.052 0.034 -0.946 0.417 T 0.000 0.000 T . . . -1.143 0.027 0.008 0.299 0.016 0.066 0.124 N c -1.447 -1.461 1.000 0.408 0.707 0.730 0 0.786 0.177 0.560 0.230 -1.040 0.021 0.005 0.169 0.001 0.043 5.504 0.160 . ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3|ENSG00000157017.11|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000231177.4|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.5007 0.3772 0.4157 0.5 0.9798 0.4435 0.4095 0.4622 0.7648 0.4327 0.3689 0.4233 0.4768 0.9741 0.4542 0.4029 0.4743 het 546.07 55 3 10302172 . G A 546.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.975;DP=55;Dels=0.00;FS=2.357;HRun=0;HaplotypeScore=0.9933;MQ=58.73;MQ0=0;MQRankSum=0.781;QD=9.93;ReadPosRankSum=-2.218;VQSLOD=5.4907;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,22:55:99:576,0,971 3 10353626 10353626 C T exonic SEC13 nonsynonymous SNV SEC13:NM_001278946:exon5:c.G473A:p.R158H 0.2 0.26 0.22 0.026 0.23 0.22 0.1998 0.2558 0.1369 0.0346 0.1326 0.2179 0.1949 0.2488 0.23 0.25 0.23 0.25 0.16 rs35671 COSN18728404;COSN18728196;COSN18728495;COSN18728302 4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1936 0.2544 0.1418 0.1638 0.0384 0.1255 0.2267 0.1946 0.2455 0.2111 0.2621 0.1551 0.1788 0.0435 0.1297 0.2233 0.1945 het 618.97 63 3 10353626 . C T 618.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.531;DP=63;Dels=0.00;FS=1.108;HRun=0;HaplotypeScore=0.8321;MQ=59.63;MQ0=0;MQRankSum=-0.746;QD=9.82;ReadPosRankSum=0.517;VQSLOD=6.4405;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,26:63:99:649,0,923 3 10379923 10379923 C T exonic ATP2B2 synonymous SNV ATP2B2:NM_001330611:exon19:c.G3222A:p.A1074A,ATP2B2:NM_001683:exon19:c.G3222A:p.A1074A,ATP2B2:NM_001001331:exon22:c.G3357A:p.A1119A 0.57 0.6 0.65 0.54 0.43 0.65 0.4870 0.5566 0.7070 0.5585 0.3980 0.4037 0.4648 0.6244 0.46 0.54 0.42 0.61 0.34 rs35678 COSM4157110;COSM4157111 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4917 0.5591 0.6911 0.3884 0.5493 0.3957 0.4077 0.4564 0.6218 0.4634 0.5481 0.6196 0.3633 0.5445 0.3982 0.4148 0.4476 het 1801.19 119 3 10379923 . C T 1801.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.514;DP=119;Dels=0.00;FS=3.691;HRun=0;HaplotypeScore=5.3170;MQ=58.25;MQ0=0;MQRankSum=-0.241;QD=15.14;ReadPosRankSum=-0.983;VQSLOD=4.6122;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:48,71:119:99:1831,0,1274 3 10420087 10420087 T C exonic ATP2B2 synonymous SNV ATP2B2:NM_001330611:exon7:c.A915G:p.Q305Q,ATP2B2:NM_001683:exon7:c.A915G:p.Q305Q,ATP2B2:NM_001001331:exon10:c.A1050G:p.Q350Q 0.49 0.44 0.32 0.7 0.37 0.6 0.4092 0.3993 0.3285 0.6640 0.3929 0.3536 0.4376 0.5665 0.36 0.39 0.34 0.46 0.22 rs751122 COSM4157113;COSM4157112 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4029 0.3974 0.3306 0.3484 0.6589 0.3895 0.3497 0.3725 0.5627 0.3846 0.3916 0.3174 0.3278 0.6593 0.3987 0.3509 0.4092 het 1730.64 128 3 10420087 . T C 1730.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.941;DP=128;Dels=0.00;FS=13.736;HRun=0;HaplotypeScore=3.4321;MQ=59.38;MQ0=0;MQRankSum=1.808;QD=13.52;ReadPosRankSum=1.698;VQSLOD=3.5849;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,61:128:99:1761,0,1825 3 10967739 10967739 T C exonic SLC6A11 synonymous SNV SLC6A11:NM_014229:exon9:c.T1170C:p.P390P 0.33 0.46 0.31 0.17 0.46 0.21 0.3784 0.4440 0.2119 0.1482 0.4480 0.4550 0.3954 0.2361 0.45 0.46 0.44 0.45 0.43 rs2272395 COSM3759601 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3681 0.4428 0.2146 0.4382 0.1477 0.4359 0.4526 0.4080 0.2367 0.4338 0.4453 0.2679 0.4536 0.1483 0.4497 0.4637 0.4268 hom 8367.40 250 3 10967739 . T C 8367.40 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7853;MQ=58.94;MQ0=0;QD=33.47;VQSLOD=8.7092;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8367,653,0 3 10976876 10976876 A G exonic SLC6A11 synonymous SNV SLC6A11:NM_014229:exon13:c.A1737G:p.T579T 0.33 0.54 0.3 0.1 0.43 0.24 0.3594 0.5172 0.1945 0.0768 0.3808 0.4235 0.3562 0.2562 0.45 0.53 0.41 0.4 0.4 rs2245532 COSM3759602 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3472 0.5138 0.2007 0.4770 0.0748 0.3650 0.4194 0.3793 0.2560 0.4203 0.5101 0.2524 0.4967 0.0721 0.3692 0.4266 0.4041 hom 6891.06 216 3 10976876 . A G 6891.06 Mask AC=2;AF=1.00;AN=2;DP=216;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2169;MQ=59.03;MQ0=0;QD=31.90;VQSLOD=5.1470;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:6890,551,0 3 11596302 11596302 T C exonic ATG7 synonymous SNV ATG7:NM_001144912:exon17:c.T1857C:p.D619D,ATG7:NM_001136031:exon18:c.T2016C:p.D672D,ATG7:NM_001349236:exon18:c.T1980C:p.D660D,ATG7:NM_001349237:exon18:c.T1938C:p.D646D,ATG7:NM_006395:exon19:c.T2097C:p.D699D,ATG7:NM_001349233:exon20:c.T2097C:p.D699D,ATG7:NM_001349234:exon20:c.T2097C:p.D699D,ATG7:NM_001349235:exon20:c.T2097C:p.D699D,ATG7:NM_001349232:exon21:c.T2097C:p.D699D 0.25 0.34 0.23 0.14 0.32 0.21 0.2797 0.3219 0.1801 0.1329 0.2757 0.3223 0.2756 0.2286 0.32 0.32 0.32 0.24 0.28 rs8154 COSM329155 2(haematopoietic_and_lymphoid_tissue);1(prostate);2(cervix) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2751 0.3201 0.1923 0.4156 0.1328 0.2668 0.3159 0.3034 0.2316 0.2977 0.3156 0.2172 0.4172 0.1463 0.2616 0.3143 0.2975 hom 2600.03 88 3 11596302 . T C 2600.03 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.26;MQ0=0;QD=29.55;VQSLOD=8.6498;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2633,220,0 3 11643465 11643465 T C exonic VGLL4 nonsynonymous SNV VGLL4:NM_001128219:exon2:c.A114G:p.I38M,VGLL4:NM_014667:exon3:c.A96G:p.I32M,VGLL4:NM_001284390:exon4:c.A111G:p.I37M 0.93 1. 0.89 0.94 0.95 0.83 0.9276 0.9893 0.8224 0.9492 0.9498 0.9512 0.9411 0.8443 0.96 0.99 0.95 0.96 0.9 rs2276749 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.090 B 0.001 0.040 B 0.000 0.497 N 0.966 0.810 P . . . 1.01 0.411 T 0.94 0.018 N 0.202 0.248 -0.924 0.450 T 0.000 0.000 T . . . 0.797 0.170 9.447 0.867 0.162 0.130 0.174 N c -0.368 -0.168 1.000 0.747 0.742 0.980 0 5.33 0.756 4.465 0.596 0.016 0.142 1.000 0.715 0.999 0.750 14.227 0.653 . . . 0.9246 0.9887 0.8368 0.9390 0.9504 0.9481 0.9513 0.9358 0.8443 0.9586 0.9905 0.8807 0.9404 0.9562 0.9539 0.9477 0.9337 hom 2703.74 76 3 11643465 . T C 2703.74 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8308;MQ=59.09;MQ0=0;QD=35.58;VQSLOD=8.8496;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2737,214,0 3 11871215 11871215 T C exonic TAMM41 nonsynonymous SNV TAMM41:NM_001284401:exon4:c.A535G:p.I179V,TAMM41:NM_138807:exon4:c.A535G:p.I179V,TAMM41:NM_001321294:exon5:c.A412G:p.I138V,TAMM41:NM_001321295:exon6:c.A37G:p.I13V 0.052 0.003 0.068 0.005 0.14 0.07 0.0984 0.0264 0.0517 0.0081 0.1296 0.1347 0.1046 0.0643 0.1 0.031 0.14 0.087 0.18 rs11551661 COSM3759631 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.543 0.067 T 0.043 0.202 B 0.013 0.154 B 0.707 0.100 N 1 0.090 P 0.125 0.086 N 1.59 0.288 T -0.27 0.114 N 0.033 0.013 -1.010 0.269 T 0.000 0.001 T . . . -0.549 0.053 0.167 0.664 0.078 0.114 0.164 N c -1.298 -1.318 0.116 0.168 0.707 0.730 0 -8.09 0.010 -0.451 0.068 -0.221 0.097 0.082 0.222 0.946 0.421 5.112 0.141 . . . 0.0969 0.0246 0.0526 0.0623 0.0075 0.1270 0.1399 0.0999 0.0642 0.0995 0.0282 0.0740 0.0828 0.0099 0.1181 0.1469 0.1184 het 2526.89 186 3 11871215 . T C 2526.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.475;DP=186;DS;Dels=0.00;FS=2.645;HRun=0;HaplotypeScore=2.5762;MQ=58.90;MQ0=0;MQRankSum=-0.521;QD=13.59;ReadPosRankSum=-1.548;VQSLOD=5.8044;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,99:186:99:2557,0,2325 3 11887991 11887991 C G exonic TAMM41 synonymous SNV TAMM41:NM_001284401:exon1:c.G120C:p.P40P,TAMM41:NM_138807:exon1:c.G120C:p.P40P 0.43 0.53 0.41 0.26 0.47 0.46 0.4415 0.5287 0.3065 0.2548 0.4682 0.4641 0.4624 0.4759 0.48 0.51 0.46 0.42 0.47 rs408600 COSM4002406 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4352 0.5257 0.3166 0.4848 0.2556 0.4670 0.4628 0.4607 0.4773 0.4642 0.5132 0.3747 0.4834 0.2244 0.4682 0.4652 0.4672 hom 4155.90 122 3 11887991 . C G 4155.90 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8947;MQ=59.40;MQ0=0;QD=34.06;VQSLOD=8.8947;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4155,325,0 3 12046076 12046076 T C exonic SYN2 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 0.9999 1 1 . . . . . rs2618395 COSN15632952 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 335.92 13 3 12046076 . T C 335.92 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.20;MQ0=0;QD=25.84;VQSLOD=6.5748;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,12:13:30.07:369,30,0 3 12232074 12232074 A G exonic SYN2 unknown UNKNOWN 0.96 0.98 0.95 1. 0.91 0.95 0.9328 0.9728 0.9643 0.9999 0.9308 0.9083 0.9346 0.9516 0.93 0.98 0.9 0.96 . rs310764 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9340 0.9762 0.9643 0.9472 0.9999 0.9365 0.9027 0.9328 0.9515 0.9364 0.9738 0.9581 0.94 1 0.9425 0.9053 0.9327 hom 6040.78 175 3 12232074 . A G 6040.78 Mask AC=2;AF=1.00;AN=2;DP=175;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7486;MQ=59.76;MQ0=0;QD=34.52;VQSLOD=6.7441;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:6040,484,0 3 12393125 12393125 C G exonic PPARG nonsynonymous SNV PPARG:NM_015869:exon1:c.C34G:p.P12A 0.07 0.0053 0.12 0.026 0.12 0.12 0.1101 0.0196 0.1279 0.0433 0.1637 0.1222 0.1035 0.1199 0.091 0.026 0.12 0.065 0.11 rs1801282 COSM4987222 6(soft_tissue) Likely benign|Likely benign|Likely benign|Likely benign not_specified|Diabetes_Mellitus\x2c_Noninsulin-Dependent\x2c_with_Acanthosis_Nigricans_and_Hypertension|Familial_partial_lipodystrophy|Obesity RCV000118044.2|RCV000300998.1|RCV000336176.1|RCV000406618.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN069127|C0271694:ORPHA98306:49292002|C0028754:601665:ORPHA71529:414916001 Type 2 diabetes 0.88 . 17463249 rs1801282 2E-6 0.015 0.524 D 0.0 0.026 B 0.0 0.013 B 0.541 0.115 N 0.959 0.588 P 0.695 0.181 N -2.99 0.921 D -0.05 0.078 N 0.154 0.184 -0.726 0.592 T 0.019 0.080 T . . . 2.658 0.381 20.6 0.977 0.352 0.540 0.293 D c -0.287 -0.113 1.000 0.489 0.447 0.083 0 2.93 0.329 0.395 0.204 0.935 0.490 1.000 0.715 0.879 0.368 5.341 0.152 . ENSG00000132170.15|ENSG00000157152.12 Heart_Left_Ventricle|Muscle_Skeletal 0.1112 0.0196 0.1207 0.0564 0.0390 0.1666 0.1240 0.1076 0.1184 0.1003 0.0242 0.0969 0.0762 0.0427 0.1663 0.1322 0.1602 het 1054.58 78 3 12393125 . C G 1054.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.817;DP=78;Dels=0.00;FS=0.897;HRun=0;HaplotypeScore=0.9332;MQ=59.70;MQ0=0;MQRankSum=-1.241;QD=13.52;ReadPosRankSum=-1.033;VQSLOD=6.1454;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,46:78:99:1085,0,867 3 12475557 12475557 C T exonic PPARG synonymous SNV PPARG:NM_005037:exon7:c.C1347T:p.H449H,PPARG:NM_015869:exon7:c.C1431T:p.H477H,PPARG:NM_138711:exon8:c.C1347T:p.H449H,PPARG:NM_138712:exon8:c.C1347T:p.H449H 0.13 0.048 0.11 0.21 0.12 0.16 0.1340 0.0653 0.1146 0.2388 0.2024 0.1254 0.1280 0.1437 0.11 0.064 0.13 0.098 0.11 rs3856806 COSM4002430 2(haematopoietic_and_lymphoid_tissue);5(soft_tissue) Benign|Likely benign|Likely benign|Likely benign|Likely benign Glioma_susceptibility_1|not_specified|Diabetes_Mellitus\x2c_Noninsulin-Dependent\x2c_with_Acanthosis_Nigricans_and_Hypertension|Familial_partial_lipodystrophy|Obesity RCV000008615.3|RCV000118043.2|RCV000276900.1|RCV000331945.1|RCV000371595.1 MedGen:OMIM|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT C2750850:137800|CN169374|CN069127|C0271694:ORPHA98306:49292002|C0028754:601665:ORPHA71529:414916001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1348 0.0624 0.1094 0.0730 0.2412 0.2005 0.1266 0.1196 0.1434 0.1316 0.0677 0.0883 0.0762 0.2519 0.1952 0.1422 0.1673 het 994.31 98 3 12475557 . C T 994.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.391;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=58.79;MQ0=0;MQRankSum=-0.857;QD=10.15;ReadPosRankSum=-0.004;VQSLOD=6.0644;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,40:98:99:1024,0,1597 3 12613866 12613866 T C exonic MKRN2 synonymous SNV MKRN2:NM_001271707:exon3:c.T507C:p.H169H,MKRN2:NM_014160:exon4:c.T636C:p.H212H 0.55 0.96 0.66 0.13 0.62 0.28 0.5700 0.9101 0.6598 0.1165 0.5797 0.5999 0.5797 0.3206 0.7 0.89 0.6 0.64 0.65 rs2648307 COSM4415784 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5539 0.9181 0.6554 0.5766 0.1145 0.5888 0.5968 0.5808 0.2942 0.6591 0.9078 0.6551 0.6026 0.1016 0.5997 0.5935 0.5990 het 412.53 42 3 12613866 . T C 412.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.196;DP=42;Dels=0.00;FS=7.314;HRun=0;HaplotypeScore=1.7870;MQ=58.09;MQ0=0;MQRankSum=0.088;QD=9.82;ReadPosRankSum=-2.103;VQSLOD=3.7475;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,20:42:99:443,0,558 3 12623713 12623713 C G exonic MKRN2 synonymous SNV MKRN2:NM_001271707:exon7:c.C1083G:p.L361L,MKRN2:NM_014160:exon8:c.C1212G:p.L404L 0.0004 . 0.0014 . 0.001 . 0.0015 0.0003 0.0002 0 0.0014 0.0025 0 0 0.0004 0.0002 0.0005 . . rs188762040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0003 0.0003 0 0 0.0014 0.0023 0.0004 0 0.0011 0.0001 0.0012 0 0 0.0006 0.0018 0.0020 het 4113.56 245 3 12623713 . C G 4113.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.571;DP=245;DS;Dels=0.00;FS=1.544;HRun=0;HaplotypeScore=8.2003;MQ=59.83;MQ0=0;MQRankSum=0.142;QD=16.79;ReadPosRankSum=-0.039;VQSLOD=2.3957;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,118:245:99:3457,0,3582 3 12856856 12856856 A G exonic CAND2 nonsynonymous SNV CAND2:NM_012298:exon6:c.A944G:p.Q315R,CAND2:NM_001162499:exon8:c.A1223G:p.Q408R 0.58 0.97 0.5 0.29 0.66 0.31 0.5526 0.9182 0.3656 0.2792 0.5642 0.6173 0.5135 0.3449 0.72 0.91 0.62 0.67 0.64 rs2305398 COSM5021369;COSM5021370 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.027 0.258 N 1 0.090 P -1.01 0.011 N -0.13 0.648 T 2.18 0.003 N 0.014 0.002 -0.975 0.362 T 0.000 0.000 T . . . -0.382 0.063 0.427 0.117 0.002 0.139 0.179 N c -0.999 -0.761 0.999 0.398 0.696 0.567 0 3.85 0.434 0.632 0.241 -0.328 0.075 0.995 0.385 0.009 0.108 7.173 0.247 Armadillo-like helical|Armadillo-type fold;Armadillo-type fold ENSG00000213943.3|ENSG00000272263.1|ENSG00000144712.7|ENSG00000213943.3|ENSG00000144712.7 Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Thyroid 0.5393 0.9227 0.3807 0.5918 0.2756 0.5725 0.6170 0.5614 0.3430 0.6709 0.9083 0.4236 0.5828 0.2931 0.5762 0.6185 0.5560 het 1187.39 88 3 12856856 . A G 1187.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.840;DP=88;Dels=0.00;FS=0.904;HRun=1;HaplotypeScore=5.5269;MQ=59.21;MQ0=0;MQRankSum=-2.059;QD=13.49;ReadPosRankSum=-1.023;VQSLOD=3.9631;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,46:88:99:1217,0,1226 3 12857493 12857493 C T exonic CAND2 nonsynonymous SNV CAND2:NM_012298:exon7:c.C1148T:p.P383L,CAND2:NM_001162499:exon9:c.C1427T:p.P476L 0.32 0.32 0.37 0.18 0.58 0.19 0.4258 0.3390 0.2902 0.1609 0.5130 0.5345 0.4058 0.2359 0.47 0.35 0.53 0.33 0.53 rs2305397 COSM1418693;COSM1418692 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.144 0.279 T 0.005 0.258 B 0.009 0.324 B 0.000 0.537 D 0.000 0.588 P 1.5 0.380 L 2.79 0.112 T -5.47 0.856 D 0.204 0.250 -0.928 0.445 T 0.000 0.000 T . . . 3.986 0.536 23.6 0.952 0.259 0.908 0.520 D c 0.056 0.149 1.000 0.747 0.632 0.408 0 5.12 0.693 7.801 0.844 0.935 0.490 1.000 0.715 0.992 0.562 16.085 0.808 Armadillo-like helical|Armadillo-type fold ENSG00000213943.3|ENSG00000272263.1|ENSG00000144712.7|ENSG00000213943.3|ENSG00000144712.7 Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Thyroid 0.4201 0.3350 0.3009 0.4748 0.1646 0.5156 0.5340 0.4518 0.2324 0.4550 0.3420 0.3397 0.4866 0.1689 0.5186 0.5421 0.4643 het 1583.14 115 3 12857493 . C T 1583.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.696;DP=115;Dels=0.00;FS=2.838;HRun=1;HaplotypeScore=2.5586;MQ=59.60;MQ0=0;MQRankSum=0.243;QD=13.77;ReadPosRankSum=1.016;VQSLOD=6.4592;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,59:115:99:1613,0,1702 3 12858028 12858028 T C exonic CAND2 nonsynonymous SNV CAND2:NM_012298:exon8:c.T1318C:p.S440P,CAND2:NM_001162499:exon10:c.T1597C:p.S533P 0.6 0.96 0.49 0.44 0.62 0.36 0.5541 0.8987 0.4110 0.4353 0.5438 0.5869 0.5089 0.3859 0.69 0.89 0.59 0.72 0.61 rs3732675 COSM1484577;COSM445535 1(breast);1(pancreas);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.425 N 0.997 0.226 P -1.415 0.006 N -0.06 0.636 T 3.56 0.001 N 0.061 0.045 -0.947 0.415 T 0.000 0.000 T . . . 0.439 0.136 6.949 0.211 0.008 0.123 0.170 N c -0.853 -0.583 1.000 0.454 0.732 0.924 0 4.25 0.495 1.752 0.377 0.069 0.176 1.000 0.715 0.997 0.653 7.327 0.256 Armadillo-like helical|Armadillo-type fold ENSG00000213943.3|ENSG00000272263.1|ENSG00000144712.7|ENSG00000213943.3|ENSG00000144712.7 Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Thyroid 0.5408 0.9026 0.4190 0.5415 0.4251 0.5489 0.5870 0.5464 0.3845 0.6583 0.8861 0.4390 0.5331 0.4528 0.5505 0.5949 0.5441 het 1508.70 104 3 12858028 . T C 1508.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.690;DP=104;Dels=0.00;FS=5.260;HRun=1;HaplotypeScore=2.0508;MQ=59.15;MQ0=0;MQRankSum=0.973;QD=14.51;ReadPosRankSum=-0.433;VQSLOD=5.4473;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,54:104:99:1539,0,1378 3 12859004 12859004 A C exonic CAND2 nonsynonymous SNV CAND2:NM_012298:exon8:c.A2294C:p.H765P,CAND2:NM_001162499:exon10:c.A2573C:p.H858P 0.57 0.97 0.48 0.29 0.64 0.33 0.5420 0.9141 0.3590 0.2780 0.5489 0.5981 0.5034 0.3591 0.7 0.91 0.6 0.69 0.5 rs3732678 COSM3759715;COSM3759714 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.488 0.085 T 0.0 0.026 B 0.0 0.013 B 0.204 0.165 N 1.000 0.090 P 0 0.065 N -0.11 0.645 T 1.65 0.007 N 0.036 0.019 -0.992 0.320 T 0.000 0.000 T . . . 1.459 0.238 13.10 0.716 0.094 0.129 0.174 N c -0.591 -0.348 0.995 0.341 0.718 0.821 0 3.88 0.438 2.855 0.478 0.014 0.141 0.992 0.373 0.998 0.697 10.525 0.439 Armadillo-like helical|Armadillo-type fold ENSG00000213943.3|ENSG00000272263.1|ENSG00000144712.7|ENSG00000213943.3|ENSG00000144712.7 Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Thyroid 0.5283 0.9191 0.3721 0.5807 0.2751 0.5542 0.5974 0.5472 0.3577 0.6601 0.9050 0.4199 0.5795 0.2917 0.5576 0.6028 0.5543 het 833.78 80 3 12859004 . A C 833.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.933;DP=80;Dels=0.00;FS=9.714;HRun=2;HaplotypeScore=2.7318;MQ=59.01;MQ0=0;MQRankSum=-0.624;QD=10.42;ReadPosRankSum=0.329;VQSLOD=3.7832;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,32:80:99:864,0,1307 3 12861586 12861586 T C exonic CAND2 synonymous SNV CAND2:NM_012298:exon9:c.T2667C:p.G889G,CAND2:NM_001162499:exon11:c.T2946C:p.G982G 0.15 0.045 0.3 0.12 0.18 0.18 0.1869 0.0683 0.4136 0.1132 0.1329 0.1801 0.16 0.1877 0.14 0.058 0.18 0.076 0.16 rs4684883 COSM4002443;COSM4002444 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1964 0.0633 0.3974 0.2325 0.1098 0.1319 0.1798 0.2069 0.1858 0.1397 0.0653 0.3449 0.22 0.1110 0.1328 0.1715 0.1864 het 1429.82 131 3 12861586 . T C 1429.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.368;DP=131;Dels=0.00;FS=6.044;HRun=1;HaplotypeScore=2.8884;MQ=58.67;MQ0=0;MQRankSum=1.582;QD=10.91;ReadPosRankSum=-1.965;VQSLOD=4.3550;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,59:131:99:1460,0,1762 3 12861608 12861608 G A exonic CAND2 nonsynonymous SNV CAND2:NM_012298:exon9:c.G2689A:p.V897I,CAND2:NM_001162499:exon11:c.G2968A:p.V990I 0.14 0.026 0.29 0.12 0.17 0.17 0.1795 0.0406 0.4149 0.1076 0.1306 0.1738 0.1556 0.1783 0.13 0.034 0.17 0.076 0.13 rs3817121 COSM4002445;COSM4002446 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.051 0.398 T 0.468 0.438 P 0.065 0.389 B 0.004 0.343 N 0.000 0.588 P 2.38 0.688 M 1.8 0.253 T -0.79 0.219 N 0.244 0.298 -0.958 0.395 T 0.000 0.000 T . . . 4.031 0.542 23.7 0.998 0.910 0.984 0.819 D c 0.290 0.371 1.000 0.747 0.701 0.575 0 5.09 0.685 5.685 0.676 1.048 0.713 1.000 0.715 0.931 0.405 15.982 0.798 Armadillo-like helical|Armadillo-type fold . . 0.1899 0.0362 0.3980 0.2303 0.1062 0.1295 0.1730 0.1992 0.1768 0.1286 0.0404 0.3425 0.2152 0.1062 0.1297 0.1650 0.1813 het 1772.86 168 3 12861608 . G A 1772.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.391;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3411;MQ=58.41;MQ0=0;MQRankSum=0.666;QD=10.55;ReadPosRankSum=-0.168;VQSLOD=5.3903;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,74:168:99:1803,0,2200 3 12875443 12875443 G A exonic CAND2 nonsynonymous SNV CAND2:NM_012298:exon13:c.G3322A:p.A1108T,CAND2:NM_001162499:exon15:c.G3673A:p.A1225T 0.45 0.29 0.52 0.45 0.63 0.44 0.5556 0.3253 0.5986 0.4230 0.5894 0.6233 0.54 0.4446 0.54 0.36 0.63 0.41 0.63 rs12629133 COSM4157241;COSM4157242 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.466 0.112 T 0.0 0.067 B 0.0 0.063 B 0.679 0.103 N 1 0.090 P 0.14 0.088 N 3.69 0.042 T -0.25 0.116 N 0.023 0.006 -1.063 0.109 T 0.000 0.000 T . . . 0.098 0.103 3.584 0.779 0.116 0.346 0.249 N c -1.293 -1.236 1.000 0.747 0.646 0.442 0 2.05 0.257 0.724 0.254 -0.392 0.064 0.020 0.195 0.095 0.187 11.276 0.482 Armadillo-like helical|Armadillo-type fold|TATA-binding protein interacting (TIP20) . . 0.5622 0.3224 0.5901 0.6334 0.4246 0.5946 0.6258 0.5977 0.4449 0.5195 0.3307 0.5682 0.5894 0.4248 0.6015 0.6135 0.5592 het 1308.14 143 3 12875443 . G A 1308.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.006;DP=143;Dels=0.00;FS=2.236;HRun=0;HaplotypeScore=1.8824;MQ=59.38;MQ0=0;MQRankSum=1.413;QD=9.15;ReadPosRankSum=-0.720;VQSLOD=6.3136;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,58:143:99:1338,0,2136 3 12962074 12962074 G A exonic IQSEC1 nonsynonymous SNV IQSEC1:NM_001134382:exon6:c.C1876T:p.P626S,IQSEC1:NM_001330619:exon6:c.C1552T:p.P518S,IQSEC1:NM_014869:exon6:c.C1918T:p.P640S 0.08 0.0091 0.086 0.16 0.14 0.028 0.1125 0.0268 0.0671 0.1620 0.1737 0.1410 0.1162 0.0327 0.1 0.037 0.14 0.076 0.098 rs35319679 COSM3759740;COSM3759739 1(liver);1(large_intestine) . . . . . . . . . . . 0.009 0.574 D 0.614 0.637 P 0.525 0.672 P 0.000 0.843 D 0.000 0.588 P . . . 0.36 0.579 T -7.41 0.948 D 0.322 0.511 -1.153 0.009 T 0.001 0.002 T . . . 6.085 0.838 28.2 0.999 0.991 0.979 0.779 D c 0.381 0.420 1.000 0.747 0.706 0.609 0 4.59 0.561 8.012 0.881 0.953 0.551 1.000 0.715 0.941 0.415 17.373 0.872 Sec7 domain;Sec7 domain|Sec7 domain\x2c alpha orthogonal bundle . . 0.1134 0.0245 0.0704 0.0704 0.1662 0.1712 0.1444 0.1133 0.0346 0.1136 0.0301 0.0788 0.0563 0.1726 0.1695 0.1457 0.1163 het 2142.37 143 3 12962074 . G A 2142.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.113;DP=143;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=2.5650;MQ=60.00;MQ0=0;MQRankSum=0.669;QD=14.98;ReadPosRankSum=0.151;VQSLOD=6.0270;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,74:143:99:2172,0,1931 3 13361287 13361287 C T exonic NUP210 nonsynonymous SNV NUP210:NM_024923:exon37:c.G5359A:p.V1787M 0.61 0.57 0.62 0.7 0.51 0.67 0.5541 0.5590 0.6741 0.6971 0.5519 0.4916 0.5526 0.6452 0.51 0.56 0.49 0.56 0.44 rs354478 COSM5021371 1(bone) . . . . . . . . . . . 0.242 0.176 T 0.0 0.026 B 0.0 0.013 B 0.237 0.158 N 1 0.090 P -2.14 0.001 N 3.56 0.047 T 0.68 0.022 N 0.009 0.001 -1.041 0.170 T 0.000 0.000 T . . . 0.902 0.180 10.09 0.927 0.216 0.058 0.116 N c -1.415 -1.285 0.020 0.133 0.732 0.924 0 -1.13 0.092 -0.061 0.116 -0.859 0.029 0.455 0.264 0.585 0.286 1.046 0.015 . ENSG00000132182.7|ENSG00000132182.7|ENSG00000132182.7 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Nerve_Tibial 0.5559 0.5571 0.6626 0.4565 0.6964 0.5440 0.4910 0.5177 0.6429 0.5327 0.5507 0.6094 0.4533 0.7077 0.5287 0.5013 0.5348 het 706.53 48 3 13361287 . C T 706.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.067;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3604;MQ=58.73;MQ0=0;MQRankSum=1.138;QD=14.72;ReadPosRankSum=-1.138;VQSLOD=5.5221;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,29:48:99:737,0,478 3 13361391 13361391 A G exonic NUP210 nonsynonymous SNV NUP210:NM_024923:exon37:c.T5255C:p.L1752S 0.89 0.97 0.85 0.99 0.73 0.88 0.7872 0.9413 0.8701 0.9947 0.7106 0.7129 0.7544 0.8556 0.79 0.94 0.71 0.79 0.67 rs354479 COSM4157282 1(thyroid) . . . . . . . . . . . 0.381 0.111 T 0.0 0.026 B 0.0 0.013 B 0.002 0.367 N 1 0.090 P -1.575 0.004 N 3.48 0.052 T -0.08 0.082 N 0.094 0.094 -0.983 0.343 T 0.000 0.000 T . . . 0.914 0.181 10.16 0.777 0.116 0.138 0.179 N c -0.911 -0.746 0.242 0.186 0.745 0.986 0 4.69 0.584 3.322 0.515 -0.247 0.091 0.668 0.281 0.000 0.016 11.569 0.499 . . . 0.7866 0.9461 0.8667 0.6910 0.9953 0.7134 0.7155 0.7349 0.8535 0.7920 0.9353 0.7919 0.7450 0.9975 0.6982 0.7118 0.7485 het 1211.12 98 3 13361391 . A G 1211.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.091;DP=98;Dels=0.00;FS=6.799;HRun=0;HaplotypeScore=4.0970;MQ=57.05;MQ0=0;MQRankSum=0.344;QD=12.36;ReadPosRankSum=-1.388;VQSLOD=3.5759;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,44:98:99:1241,0,1271 3 13364876 13364876 G T exonic NUP210 synonymous SNV NUP210:NM_024923:exon34:c.C4701A:p.T1567T 0.56 0.37 0.61 0.7 0.51 0.67 0.5373 0.3937 0.6650 0.6969 0.5472 0.4897 0.5407 0.6428 0.46 0.4 0.49 0.47 0.42 rs514084 COSM4415968 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5427 0.3905 0.6510 0.4552 0.6965 0.5443 0.4894 0.5082 0.6402 0.4884 0.3967 0.5974 0.4536 0.7083 0.5284 0.5006 0.5286 het 2061.57 193 3 13364876 . G T 2061.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.164;DP=193;DS;Dels=0.00;FS=0.563;HRun=1;HaplotypeScore=2.5257;MQ=58.29;MQ0=2;MQRankSum=0.330;QD=10.68;ReadPosRankSum=-1.469;VQSLOD=5.2848;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:112,81:193:99:2092,0,3136 3 13367406 13367406 C T exonic NUP210 synonymous SNV NUP210:NM_024923:exon33:c.G4533A:p.S1511S 0.48 0.18 0.58 0.67 0.48 0.62 0.4928 0.2229 0.6385 0.6749 0.5321 0.4545 0.5121 0.6035 0.38 0.25 0.46 0.41 0.4 rs665064 COSM4415592 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5021 0.2211 0.6224 0.4146 0.6677 0.5297 0.4549 0.4724 0.6017 0.4219 0.2321 0.5800 0.4338 0.6768 0.5152 0.4693 0.4918 het 1284.93 119 3 13367406 . C T 1284.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.455;DP=119;Dels=0.00;FS=1.544;HRun=0;HaplotypeScore=4.8839;MQ=59.37;MQ0=0;MQRankSum=0.815;QD=10.80;ReadPosRankSum=0.956;VQSLOD=5.5762;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,48:119:99:1315,0,1789 3 13368892 13368892 G A exonic NUP210 synonymous SNV NUP210:NM_024923:exon32:c.C4332T:p.C1444C 0.4 0.46 0.38 0.3 0.49 0.33 0.4497 0.4766 0.3266 0.3011 0.4577 0.5092 0.4561 0.3553 0.5 0.47 0.51 0.45 0.47 rs2271509 COSM445628 1(bone);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4449 0.4749 0.3389 0.5440 0.3018 0.4527 0.5081 0.4838 0.3546 0.4757 0.4790 0.3890 0.5464 0.2905 0.4710 0.4990 0.4654 het 423.13 41 3 13368892 . G A 423.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.648;DP=41;Dels=0.00;FS=3.062;HRun=0;HaplotypeScore=1.9782;MQ=59.44;MQ0=0;MQRankSum=-0.728;QD=10.32;ReadPosRankSum=-0.542;VQSLOD=6.2828;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,17:41:99:453,0,649 3 13379400 13379400 C T exonic NUP210 synonymous SNV NUP210:NM_024923:exon26:c.G3489A:p.E1163E 0.51 0.8 0.42 0.33 0.52 0.35 0.5085 0.7733 0.3629 0.3337 0.4837 0.5477 0.4988 0.3861 0.61 0.75 0.54 0.61 0.57 rs3773302 COSM4157285 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4924 0.7723 0.3735 0.5783 0.3350 0.4687 0.5424 0.5236 0.3793 0.5749 0.7589 0.4189 0.5629 0.3294 0.4851 0.5288 0.5051 het 447.45 49 3 13379400 . C T 447.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.251;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;MQRankSum=2.675;QD=9.13;ReadPosRankSum=-0.641;VQSLOD=4.7562;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,20:49:99:477,0,836 3 13383540 13383540 A G exonic NUP210 synonymous SNV NUP210:NM_024923:exon22:c.T3048C:p.F1016F 0.58 0.9 0.45 0.4 0.55 0.44 0.5403 0.8549 0.3769 0.4084 0.4729 0.5647 0.5176 0.4549 0.66 0.84 0.56 0.67 0.62 rs2271504 COSM5618672 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5298 0.8586 0.3966 0.6106 0.4161 0.4759 0.5645 0.5565 0.4577 0.6157 0.8467 0.4414 0.5828 0.4047 0.4885 0.5489 0.5418 het 1314.02 114 3 13383540 . A G 1314.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.516;DP=114;Dels=0.00;FS=2.473;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=0.160;QD=11.53;ReadPosRankSum=1.846;VQSLOD=5.3393;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,51:114:99:1344,0,1745 3 13395579 13395579 C A exonic NUP210 nonsynonymous SNV NUP210:NM_024923:exon17:c.G2357T:p.R786L 0.58 0.9 0.45 0.4 0.55 0.44 0.5920 0.8580 0.4590 0.4829 0.5423 0.6138 0.5879 0.4862 0.66 0.83 0.57 0.66 0.48 rs2280084 COSM445629 1(pancreas);1(oesophagus) . . . . . . . . . . . 0.581 0.060 T 0.0 0.026 B 0.0 0.013 B 0.036 0.245 N 1 0.090 P -1.56 0.005 N 2.15 0.193 T 1.36 0.009 N 0.039 0.019 -1.033 0.193 T 0.000 0.000 T . . . 2.080 0.311 16.72 0.462 0.036 0.066 0.125 N c -0.903 -0.691 1.000 0.451 0.672 0.522 0 4.25 0.495 3.323 0.515 0.242 0.267 0.183 0.239 0.924 0.398 9.746 0.394 . ENSG00000132182.7|ENSG00000132182.7 Brain_Cerebellar_Hemisphere|Brain_Cerebellum 0.5264 0.8525 0.3968 0.6070 0.4181 0.4749 0.5659 0.5508 0.4528 0.6138 0.8408 0.4400 0.5861 0.4046 0.4891 0.5484 0.5419 het 96.38 11 3 13395579 . C A 96.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.532;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.825;QD=8.76;ReadPosRankSum=-0.717;VQSLOD=5.8700;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:126,0,146 3 13399786 13399786 G A exonic NUP210 nonsynonymous SNV NUP210:NM_024923:exon16:c.C2264T:p.A755V 0.18 0.23 0.21 0.014 0.33 0.12 0.2616 0.2399 0.1649 0.0052 0.3095 0.3371 0.2815 0.1524 0.31 0.24 0.35 0.33 0.39 rs6795271 COSM4157286 1(thyroid) . . . . . . . . . . . 0.354 0.121 T 0.001 0.090 B 0.001 0.040 B 0.169 0.174 N 1 0.090 P -0.35 0.031 N 2.33 0.165 T 0.24 0.045 N 0.026 0.008 -0.943 0.422 T 0.000 0.000 T . . . 0.338 0.127 6.052 0.800 0.126 0.287 0.234 N c -1.289 -1.233 0.782 0.238 0.707 0.730 0 -1.59 0.080 1.111 0.306 -0.333 0.074 0.533 0.270 0.020 0.134 10.261 0.424 . . . 0.2590 0.2390 0.1749 0.3624 0.0046 0.3040 0.3345 0.3173 0.1540 0.2867 0.2474 0.2428 0.3245 0.0025 0.3204 0.3336 0.2945 het 1189.93 95 3 13399786 . G A 1189.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.875;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6611;MQ=60.00;MQ0=0;MQRankSum=0.048;QD=12.53;ReadPosRankSum=0.473;VQSLOD=4.4879;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,46:95:99:1220,0,1291 3 13407556 13407556 T C exonic NUP210 nonsynonymous SNV NUP210:NM_024923:exon14:c.A1822G:p.I608V 0.58 0.9 0.45 0.41 0.54 0.44 0.5394 0.8557 0.3764 0.4111 0.4730 0.5631 0.5188 0.4532 0.66 0.84 0.56 0.66 0.63 rs3732671 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.186 P -0.97 0.012 N 3.56 0.047 T 0.08 0.060 N 0.101 0.104 -1.008 0.274 T 0.000 0.000 T . . . -1.790 0.011 0.002 0.181 0.006 0.071 0.130 N c -1.266 -1.109 0.999 0.374 0.731 0.878 0 3.17 0.354 2.220 0.423 -0.417 0.060 0.957 0.332 0.003 0.074 7.952 0.290 . ENSG00000132182.7|ENSG00000132182.7 Brain_Cerebellar_Hemisphere|Brain_Cerebellum 0.5290 0.8593 0.3963 0.6109 0.4218 0.4757 0.5629 0.5548 0.4550 0.6158 0.8477 0.4390 0.5861 0.4133 0.4883 0.5475 0.5408 het 532.12 54 3 13407556 . T C 532.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.315;DP=54;Dels=0.00;FS=3.989;HRun=0;HaplotypeScore=0.9967;MQ=59.49;MQ0=0;MQRankSum=1.941;QD=9.85;ReadPosRankSum=0.238;VQSLOD=5.8831;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,26:54:99:562,0,734 3 13421150 13421150 C T exonic NUP210 nonsynonymous SNV NUP210:NM_024923:exon7:c.G889A:p.A297T 0.52 0.82 0.42 0.33 0.52 0.35 0.5050 0.7810 0.3592 0.3319 0.4682 0.5444 0.4834 0.3799 0.62 0.76 0.54 0.61 0.55 rs7628051 COSM5021372 1(bone) . . . . . . . . . . . 0.387 0.109 T 0.0 0.026 B 0.0 0.013 B 0.457 0.124 N 1 0.090 P 0.69 0.170 N 3.45 0.053 T -0.54 0.166 N 0.003 0.000 -1.073 0.087 T 0.000 0.000 T . . . 0.799 0.170 9.457 0.963 0.287 0.103 0.156 N c -0.863 -0.834 1.000 0.454 0.732 0.924 0 2.96 0.332 0.057 0.140 0.935 0.490 0.000 0.063 0.005 0.090 8.566 0.325 . ENSG00000132182.7|ENSG00000132182.7 Brain_Cerebellar_Hemisphere|Brain_Cerebellum 0.4952 0.7839 0.3745 0.5827 0.3366 0.4703 0.5436 0.5253 0.3822 0.5781 0.7692 0.4189 0.5629 0.3302 0.4848 0.5295 0.5071 het 1306.89 83 3 13421150 . C T 1306.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.642;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7851;MQ=60.00;MQ0=0;MQRankSum=0.361;QD=15.75;ReadPosRankSum=-1.604;VQSLOD=4.6953;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,45:83:99:1337,0,1077 3 13670481 13670481 A G exonic FBLN2 synonymous SNV FBLN2:NM_001998:exon11:c.A2505G:p.T835T,FBLN2:NM_001004019:exon12:c.A2646G:p.T882T,FBLN2:NM_001165035:exon12:c.A2646G:p.T882T 0.68 0.54 0.79 0.76 0.69 0.68 0.6923 0.5721 0.8334 0.7957 0.7328 0.6655 0.7115 0.7019 0.64 0.58 0.66 0.69 . rs2242023 COSM4157304;COSM4157303 1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6983 0.5673 0.8202 0.6153 0.7941 0.7333 0.6655 0.7020 0.6953 0.6554 0.5757 0.7661 0.6391 0.7885 0.7390 0.6604 0.6789 het 608.78 52 3 13670481 . A G 608.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.990;DP=52;Dels=0.00;FS=5.887;HRun=0;HaplotypeScore=4.3542;MQ=59.11;MQ0=0;MQRankSum=-0.010;QD=11.71;ReadPosRankSum=0.170;VQSLOD=4.8297;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,27:52:99:639,0,649 3 13670536 13670536 A G exonic FBLN2 nonsynonymous SNV FBLN2:NM_001998:exon11:c.A2560G:p.T854A,FBLN2:NM_001004019:exon12:c.A2701G:p.T901A,FBLN2:NM_001165035:exon12:c.A2701G:p.T901A 0.81 0.76 0.83 0.99 0.69 0.77 0.7364 0.7510 0.8728 0.9833 0.7426 0.6690 0.7437 0.7696 0.7 0.75 0.67 0.84 . rs9843344 COSM4157305;COSM4157306 1(thyroid) . . . . . . . . . . . 0.212 0.240 T 0.0 0.102 B 0.004 0.145 B 0.153 0.179 N 1 0.090 P 0.625 0.159 N -3.05 0.924 D -2.27 0.506 N 0.051 0.032 -0.983 0.343 T 0.000 0.000 T . . . -0.755 0.042 0.054 0.579 0.057 0.046 0.101 N c -1.268 -1.350 0.999 0.372 0.696 0.567 0 -4.23 0.035 0.098 0.149 -0.958 0.024 0.000 0.063 0.003 0.074 5.462 0.158 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain;EGF-like calcium-binding domain|Growth factor receptor cysteine-rich domain ENSG00000224514.1 Testis 0.7395 0.7534 0.8567 0.6159 0.9835 0.7409 0.6686 0.7267 0.7640 0.7208 0.7574 0.8086 0.64 0.9790 0.7454 0.6630 0.7100 het 610.90 42 3 13670536 . A G 610.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.199;DP=42;Dels=0.00;FS=1.222;HRun=3;HaplotypeScore=1.6640;MQ=60.00;MQ0=0;MQRankSum=-0.430;QD=14.55;ReadPosRankSum=-1.061;VQSLOD=6.2997;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,23:42:99:641,0,479 3 13670776 13670776 T C exonic FBLN2 synonymous SNV FBLN2:NM_001998:exon12:c.T2685C:p.F895F,FBLN2:NM_001004019:exon13:c.T2826C:p.F942F,FBLN2:NM_001165035:exon13:c.T2826C:p.F942F 0.8 0.76 0.83 0.99 0.68 0.77 0.7321 0.7556 0.8677 0.9842 0.7280 0.6618 0.75 0.7693 0.69 0.75 0.65 0.85 . rs4684968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7289 0.7534 0.8518 0.6015 0.9836 0.7199 0.6546 0.7111 0.7554 0.7119 0.7570 0.8079 0.6291 0.9790 0.7278 0.6504 0.6953 het 179.77 22 3 13670776 . T C 179.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.583;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=-1.194;QD=8.17;ReadPosRankSum=-0.307;VQSLOD=5.8801;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,8:22:99:210,0,404 3 13679203 13679203 G A exonic FBLN2 synonymous SNV FBLN2:NM_001998:exon17:c.G3339A:p.T1113T,FBLN2:NM_001004019:exon18:c.G3480A:p.T1160T,FBLN2:NM_001165035:exon18:c.G3480A:p.T1160T 0.52 0.76 0.39 0.64 0.32 0.34 0.3798 0.6885 0.3922 0.6776 0.2717 0.3129 0.3840 0.3453 0.42 0.65 0.3 0.6 . rs1061375 COSM3759787;COSM3759786 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3735 0.6976 0.3808 0.3230 0.6722 0.2783 0.3111 0.3717 0.3488 0.4281 0.6823 0.3995 0.2815 0.6815 0.2791 0.2976 0.3429 het 656.30 63 3 13679203 . G A 656.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.457;DP=63;Dels=0.00;FS=3.698;HRun=0;HaplotypeScore=2.9806;MQ=58.89;MQ0=0;MQRankSum=0.466;QD=10.42;ReadPosRankSum=0.364;VQSLOD=6.0343;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,23:63:99:686,0,1168 3 13679335 13679335 C T exonic FBLN2 synonymous SNV FBLN2:NM_001998:exon17:c.C3471T:p.D1157D,FBLN2:NM_001004019:exon18:c.C3612T:p.D1204D,FBLN2:NM_001165035:exon18:c.C3612T:p.D1204D 0.49 0.69 0.38 0.64 0.32 0.34 0.3746 0.6085 0.3910 0.6818 0.2703 0.3144 0.3781 0.3482 0.39 0.57 0.3 0.58 . rs1061376 COSM3759788;COSM3759789 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3691 0.6144 0.3793 0.3232 0.6757 0.2785 0.3124 0.3697 0.3493 0.4052 0.6021 0.3950 0.2815 0.6848 0.2788 0.2971 0.3391 het 2219.57 194 3 13679335 . C T 2219.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.659;DP=194;Dels=0.00;FS=8.523;HRun=0;HaplotypeScore=5.7517;MQ=59.50;MQ0=0;MQRankSum=0.007;QD=11.44;ReadPosRankSum=-0.062;VQSLOD=4.6620;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:106,88:194:99:2250,0,2570 3 14154498 14154498 G A exonic CHCHD4 synonymous SNV CHCHD4:NM_001098502:exon3:c.C318T:p.P106P,CHCHD4:NM_144636:exon4:c.C357T:p.P119P . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.232e-05 0 0 0 0 0 6.667e-05 0 het 555.55 45 3 14154498 . G A 555.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.424;DP=45;Dels=0.00;FS=2.727;HRun=0;HaplotypeScore=0.0000;MQ=58.22;MQ0=0;MQRankSum=-0.402;QD=12.35;ReadPosRankSum=0.287;VQSLOD=3.6623;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,19:45:99:586,0,750 3 14174427 14174427 A T exonic TMEM43 nonsynonymous SNV TMEM43:NM_024334:exon6:c.A504T:p.K168N 0.35 0.3 0.37 0.46 0.25 0.4 0.3209 0.2861 0.4409 0.4366 0.3004 0.2792 0.3521 0.3728 0.29 0.29 0.29 0.33 0.28 rs4685076 COSM3759801 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC RCV000039387.10|RCV000242086.1|RCV000325369.1 MedGen|MedGen|MedGen CN169374|CN230736|CN239181 . . . . . . 0.219 0.190 T 0.203 0.281 B 0.123 0.309 B 0.000 0.843 D 0.017 0.399 P 2.015 0.552 M 1.3 0.356 T -0.92 0.247 N 0.122 0.137 -0.896 0.485 T 0.000 0.000 T . . . 2.489 0.360 19.40 0.994 0.637 0.854 0.442 D c -0.365 -0.241 1.000 0.425 0.707 0.730 0 1.56 0.223 0.923 0.282 0.106 0.201 1.000 0.715 1.000 0.888 7.874 0.286 . ENSG00000163528.8|ENSG00000163528.8|ENSG00000154767.10|ENSG00000228242.3|ENSG00000154767.10 Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.3251 0.2843 0.4218 0.2501 0.4396 0.3009 0.2838 0.2966 0.3720 0.2969 0.2786 0.4212 0.2682 0.4300 0.2923 0.2893 0.2740 het 1493.88 129 3 14174427 . A T 1493.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.285;DP=129;Dels=0.00;FS=0.696;HRun=0;HaplotypeScore=1.9152;MQ=59.16;MQ0=0;MQRankSum=0.158;QD=11.58;ReadPosRankSum=-1.565;VQSLOD=6.0960;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,60:129:99:1524,0,1781 3 14175262 14175262 T C exonic TMEM43 nonsynonymous SNV TMEM43:NM_024334:exon7:c.T536C:p.M179T 0.46 0.45 0.51 0.68 0.26 0.44 0.3724 0.4177 0.5811 0.6735 0.3161 0.2864 0.3855 0.4091 0.33 0.41 0.3 0.46 0.31 rs2340917 COSM3759802 1(breast);1(large_intestine) Benign|Benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC RCV000039389.10|RCV000244862.1|RCV000379959.1 MedGen|MedGen|MedGen CN169374|CN230736|CN239181 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.212 P -2.25 0.001 N 1.6 0.286 T 2.58 0.002 N 0.146 0.172 -0.943 0.421 T 0.000 0.000 T . . . 0.428 0.135 6.855 0.191 0.006 0.120 0.168 N c -0.967 -0.716 1.000 0.747 0.707 0.730 0 5.32 0.753 3.134 0.500 0.040 0.155 0.993 0.376 0.297 0.237 14.217 0.652 . ENSG00000163528.8|ENSG00000154767.10 Muscle_Skeletal|Thyroid 0.3782 0.4174 0.5584 0.2542 0.6687 0.3145 0.2909 0.3367 0.4095 0.3565 0.4188 0.5095 0.2682 0.6592 0.3033 0.2967 0.3037 het 2951.10 241 3 14175262 . T C 2951.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.281;DP=241;DS;Dels=0.00;FS=9.177;HRun=0;HaplotypeScore=6.1910;MQ=59.30;MQ0=0;MQRankSum=-1.627;QD=12.25;ReadPosRankSum=-0.371;VQSLOD=3.7224;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,122:241:99:2981,0,3049 3 14187449 14187449 G T exonic XPC nonsynonymous SNV XPC:NM_004628:exon16:c.C2815A:p.Q939K 0.68 0.75 0.72 0.67 0.6 0.68 0.6325 0.7290 0.7087 0.6449 0.7090 0.5912 0.6457 0.6510 0.64 0.73 0.6 0.45 . rs2228001 COSM4002478 1(haematopoietic_and_lymphoid_tissue) Benign|drug response|Likely benign|Benign not_specified|cisplatin_response_-_Toxicity/ADR|Cardiomyopathy\x2c_ARVC|Xeroderma_pigmentosum RCV000170436.2|RCV000211268.1|RCV000331098.1|RCV000380504.1 MedGen|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT CN169374|CN236502|CN239181|C0043346:ORPHA910:44600005 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.455 0.001 N 1.93 0.229 T 1.67 0.006 N 0.033 0.153 -0.955 0.400 T 0.000 0.000 T . . . 1.250 0.215 12.01 0.902 0.189 0.059 0.117 N c -0.971 -0.646 1.000 0.747 0.722 0.854 0 4.24 0.493 2.828 0.476 0.115 0.208 1.000 0.715 0.998 0.697 7.925 0.289 . ENSG00000233121.1|ENSG00000163528.8|ENSG00000170860.3 Artery_Tibial|Muscle_Skeletal|Muscle_Skeletal 0.6342 0.7310 0.7075 0.5294 0.6392 0.6982 0.5923 0.6068 0.6471 0.6556 0.7228 0.7057 0.5629 0.6382 0.6985 0.6087 0.6337 het 684.87 70 3 14187449 . G T 684.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.320;DP=70;Dels=0.00;FS=0.960;HRun=1;HaplotypeScore=3.1005;MQ=59.01;MQ0=0;MQRankSum=-0.336;QD=9.78;ReadPosRankSum=0.055;VQSLOD=6.3382;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,28:70:99:715,0,1110 3 14193889 14193889 C T exonic XPC synonymous SNV XPC:NM_004628:exon11:c.G2061A:p.R687R 0.24 0.33 0.26 0.033 0.24 0.29 0.2734 0.3284 0.3453 0.0477 0.2508 0.2729 0.2875 0.3155 0.27 0.28 0.26 0.27 . rs2227998 COSM3759803 1(breast);1(thyroid);1(large_intestine) Benign|Benign not_specified|Xeroderma_pigmentosum RCV000122327.2|RCV000314393.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0043346:ORPHA910:44600005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2534 0.3053 0.3137 0.2351 0.0399 0.2294 0.2590 0.2395 0.2881 0.2561 0.2989 0.3022 0.2649 0.0358 0.2282 0.2603 0.2321 het 665.24 52 3 14193889 . C T 665.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.129;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=0.174;QD=12.79;ReadPosRankSum=0.890;VQSLOD=6.7190;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,28:52:99:695,0,678 3 14197987 14197987 A T exonic XPC synonymous SNV XPC:NM_004628:exon10:c.T1881A:p.A627A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. . rs2958057 COSM4595320 1(upper_aerodigestive_tract) Benign not_specified RCV000170433.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 6215.73 197 3 14197987 . A T 6215.73 Mask AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.6553;MQ=60.00;MQ0=0;QD=31.55;VQSLOD=8.3927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:6215,482,0 3 14551444 14551444 A G exonic GRIP2 unknown UNKNOWN 0.71 0.64 0.69 0.79 0.57 0.88 0.6373 0.6093 0.6413 0.6952 0.4499 0.5624 0.6594 0.8214 0.6 0.64 0.58 0.65 . rs9845816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6178 0.5978 0.6970 0.5657 0.7385 0.4841 0.5504 0.6032 0.8237 0.6069 0.6454 0.6974 0.5298 0.7568 0.4971 0.5915 0.5898 het 98.22 11 3 14551444 . A G 98.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.186;DP=11;Dels=0.00;FS=2.808;HRun=0;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=-2.637;QD=8.93;ReadPosRankSum=1.408;VQSLOD=4.0588;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:128,0,131 3 14555216 14555216 T C exonic GRIP2 unknown UNKNOWN 0.66 0.59 0.67 0.77 0.55 0.75 0.6175 0.6075 0.7204 0.7708 0.4818 0.5708 0.6031 0.7086 0.56 0.59 0.55 0.65 . rs4685171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5999 0.5894 0.7012 0.5173 0.7605 0.4657 0.5544 0.5798 0.6961 0.5612 0.5887 0.6615 0.4933 0.7441 0.4579 0.5469 0.5367 het 377.23 31 3 14555216 . T C 377.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.894;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8920;MQ=59.25;MQ0=0;MQRankSum=-1.060;QD=12.17;ReadPosRankSum=-0.686;VQSLOD=5.4430;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,16:31:99:407,0,370 3 14561627 14561627 - G exonic;splicing GRIP2;GRIP2 NM_001080423:exon9:c.1019+1->C unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 1. 1. 1. . . rs869266924 COSM5713074 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 362.55 10 3 14561627 . A AG 362.55 Mask AC=2;AF=1.00;AN=2;DP=10;FS=0.000;HRun=2;HaplotypeScore=21.5565;MQ=62.13;MQ0=0;QD=36.26;set=variant2 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:405,30,0 3 14563258 14563258 A G exonic GRIP2 unknown UNKNOWN 0.45 0.22 0.52 0.57 0.4 0.63 0.4590 0.2395 0.5983 0.5703 0.3324 0.4258 0.4618 0.5929 0.34 0.22 0.41 0.4 . rs4234526 COSM445746 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4442 0.2235 0.5791 0.3471 0.5579 0.3126 0.4136 0.4280 0.5773 0.3634 0.2421 0.5120 0.3267 0.5335 0.3115 0.4187 0.3887 het 314.79 22 3 14563258 . A G 314.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.165;DP=22;Dels=0.00;FS=1.740;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.165;QD=14.31;ReadPosRankSum=0.099;VQSLOD=5.8473;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,12:22:99:345,0,272 3 14712473 14712473 G A exonic CCDC174 synonymous SNV CCDC174:NM_016474:exon11:c.G1176A:p.P392P 0.35 0.46 0.46 0.23 0.35 0.23 0.3491 0.4638 0.4669 0.2379 0.4205 0.3418 0.3687 0.2527 0.38 0.46 0.34 0.3 0.39 rs1901 COSM3759814 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3543 0.4701 0.4612 0.3284 0.2402 0.4196 0.3399 0.3596 0.2563 0.3868 0.4572 0.4246 0.3477 0.2373 0.4108 0.3559 0.3755 hom 2291.57 81 3 14712473 . G A 2291.57 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=28.29;VQSLOD=8.5445;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2325,187,0 3 14724345 14724345 G A exonic C3orf20 nonsynonymous SNV C3orf20:NM_032137:exon3:c.G125A:p.G42D 0.06 0.0008 0.098 0.082 0.068 0.081 0.0660 0.0124 0.1288 0.0813 0.0736 0.0588 0.0848 0.0729 0.044 0.015 0.059 0.033 0.082 rs17040154 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.999 0.916 D 0.000 0.486 D 0.002 0.810 P 1.495 0.376 L 1.81 0.252 T -1.41 0.348 N 0.347 0.408 -1.113 0.028 T 0.006 0.021 T . . . 6.160 0.850 28.5 0.999 0.944 0.913 0.530 D c 0.597 0.598 0.873 0.254 0.554 0.283 0 5.28 0.740 5.069 0.640 0.998 0.613 1.000 0.715 0.954 0.431 15.838 0.785 . . . 0.0689 0.0119 0.1209 0.0235 0.0858 0.0747 0.0597 0.0671 0.0754 0.0535 0.0139 0.1229 0.0132 0.0875 0.0718 0.0638 0.0804 het 2202.64 185 3 14724345 . G A 2202.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.890;DP=185;Dels=0.00;FS=7.430;HRun=0;HaplotypeScore=5.4958;MQ=59.30;MQ0=0;MQRankSum=-1.182;QD=11.91;ReadPosRankSum=0.396;VQSLOD=4.0261;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,91:185:99:2233,0,2544 3 14724413 14724413 G A exonic C3orf20 nonsynonymous SNV C3orf20:NM_032137:exon3:c.G193A:p.D65N 0.3 0.28 0.44 0.23 0.37 0.22 0.3384 0.3037 0.4633 0.2382 0.4231 0.3492 0.3667 0.2463 0.33 0.31 0.35 0.25 0.41 rs9821143 COSM3759815 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.169 0.229 T 0.385 0.327 B 0.034 0.212 B 0.771 0.095 N 1 0.206 P 0.895 0.225 L 3.3 0.064 T -0.98 0.260 N 0.015 0.002 -0.929 0.444 T 0.000 0.000 T . . . 0.629 0.154 8.358 0.942 0.238 0.013 0.046 N c -0.833 -0.894 0.000 0.050 0.487 0.133 0 0.576 0.165 -0.283 0.084 0.998 0.613 0.000 0.063 0.009 0.108 1.484 0.023 . ENSG00000154781.11|ENSG00000154781.11|ENSG00000154781.11|ENSG00000154781.11|ENSG00000154781.11|ENSG00000154781.11|ENSG00000131379.5|ENSG00000154781.11|ENSG00000131379.5|ENSG00000131379.5|ENSG00000131379.5|ENSG00000154781.11|ENSG00000131379.5 Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.3469 0.3094 0.4592 0.3063 0.2400 0.4211 0.3501 0.3543 0.2491 0.3497 0.3123 0.4189 0.3278 0.2382 0.4128 0.3649 0.3535 hom 4965.71 164 3 14724413 . G A 4965.71 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=59.15;MQ0=0;QD=30.28;VQSLOD=8.9368;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:4965,382,0 3 14939479 14939479 G T exonic FGD5 synonymous SNV FGD5:NM_001320276:exon6:c.G2943T:p.L981L,FGD5:NM_152536:exon6:c.G2943T:p.L981L 0.68 0.76 0.69 0.59 0.71 0.63 0.6915 0.7522 0.6795 0.5697 0.7098 0.7161 0.6514 0.6225 0.74 0.76 0.72 0.71 . rs2164356 COSM4157360 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6891 0.7519 0.6815 0.5908 0.5654 0.7087 0.7265 0.6970 0.6163 0.7264 0.7587 0.6823 0.5331 0.5558 0.7054 0.7377 0.7198 hom 4263.53 127 3 14939479 . G T 4263.53 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7128;MQ=59.85;MQ0=0;QD=33.57;VQSLOD=9.4404;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4263,337,0 3 15276541 15276541 A G exonic CAPN7 synonymous SNV CAPN7:NM_014296:exon12:c.A1296G:p.K432K 0.051 0.0091 0.091 . 0.1 0.079 0.0883 0.0280 0.0721 0.0002 0.1038 0.1107 0.0985 0.0869 0.08 0.029 0.11 0.022 0.13 rs17539942 COSM5619288 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0889 0.0258 0.0736 0.1398 0.0005 0.1111 0.1082 0.0929 0.0826 0.0823 0.0314 0.0801 0.1821 0.0006 0.1082 0.1131 0.0765 het 924.55 92 3 15276541 . A G 924.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.374;DP=92;Dels=0.00;FS=0.841;HRun=2;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;MQRankSum=-0.313;QD=10.05;ReadPosRankSum=0.892;VQSLOD=6.3941;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,38:92:99:955,0,1530 3 15311325 15311325 A G exonic SH3BP5 synonymous SNV SH3BP5:NM_004844:exon4:c.T390C:p.R130R 0.51 0.62 0.47 0.19 0.69 0.53 0.5919 0.6204 0.3689 0.1621 0.6338 0.6855 0.625 0.5590 0.66 0.61 0.69 0.56 0.61 rs1287467 COSM4002492 1(bone);1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5846 0.6190 0.3852 0.7241 0.1657 0.6392 0.6885 0.6376 0.5490 0.6231 0.6254 0.4475 0.7682 0.1726 0.6246 0.6758 0.6431 hom 7485.87 248 3 15311325 . A G 7485.87 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7203;MQ=59.49;MQ0=0;QD=30.18;VQSLOD=6.1563;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7484,605,0 3 15476011 15476011 C G exonic EAF1 synonymous SNV EAF1:NM_033083:exon4:c.C492G:p.P164P 0.21 0.014 0.24 0.29 0.25 0.32 0.2531 0.0473 0.2642 0.3005 0.3093 0.2644 0.2346 0.2828 0.19 0.056 0.26 0.2 0.22 rs1563415 COSM4002493 1(haematopoietic_and_lymphoid_tissue);1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2565 0.0442 0.2551 0.2339 0.2973 0.3068 0.2643 0.2333 0.2871 0.2175 0.0495 0.2422 0.2119 0.2726 0.3146 0.2828 0.2576 hom 7519.31 226 3 15476011 . C G 7519.31 Mask AC=2;AF=1.00;AN=2;DP=226;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3219;MQ=59.28;MQ0=0;QD=33.27;VQSLOD=8.3440;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:7518,608,0 3 15737689 15737689 G A exonic ANKRD28 synonymous SNV ANKRD28:NM_001195099:exon13:c.C1059T:p.N353N,ANKRD28:NM_001349280:exon14:c.C1353T:p.N451N,ANKRD28:NM_001195098:exon15:c.C1059T:p.N353N,ANKRD28:NM_001349277:exon15:c.C1620T:p.N540N,ANKRD28:NM_001349278:exon15:c.C1611T:p.N537N,ANKRD28:NM_001349281:exon15:c.C1353T:p.N451N,ANKRD28:NM_001349282:exon15:c.C1353T:p.N451N,ANKRD28:NM_001349283:exon15:c.C1059T:p.N353N,ANKRD28:NM_015199:exon15:c.C1521T:p.N507N,ANKRD28:NM_001349279:exon16:c.C1512T:p.N504N 0.47 0.36 0.63 0.35 0.6 0.48 0.6043 0.4507 0.6935 0.4566 0.6530 0.6483 0.5926 0.5162 0.54 0.42 0.6 0.37 . rs2470548 COSM5426202 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5633 0.3903 0.6456 0.6556 0.3539 0.6165 0.5982 0.5879 0.4797 0.5283 0.3928 0.6550 0.6267 0.3256 0.6261 0.5928 0.5986 hom 595 21 3 15737689 . G A 595 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.33;VQSLOD=12.9977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:48.15:628,48,0 3 15737698 15737698 T C exonic ANKRD28 synonymous SNV ANKRD28:NM_001195099:exon13:c.A1050G:p.Q350Q,ANKRD28:NM_001349280:exon14:c.A1344G:p.Q448Q,ANKRD28:NM_001195098:exon15:c.A1050G:p.Q350Q,ANKRD28:NM_001349277:exon15:c.A1611G:p.Q537Q,ANKRD28:NM_001349278:exon15:c.A1602G:p.Q534Q,ANKRD28:NM_001349281:exon15:c.A1344G:p.Q448Q,ANKRD28:NM_001349282:exon15:c.A1344G:p.Q448Q,ANKRD28:NM_001349283:exon15:c.A1050G:p.Q350Q,ANKRD28:NM_015199:exon15:c.A1512G:p.Q504Q,ANKRD28:NM_001349279:exon16:c.A1503G:p.Q501Q 0.41 0.16 0.61 0.35 0.6 0.48 0.5857 0.2610 0.6784 0.4548 0.6510 0.6455 0.5773 0.5139 0.47 0.22 0.59 0.29 . rs2470549 COSM5426203 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5499 0.2144 0.6348 0.6541 0.3534 0.6164 0.5972 0.5803 0.4787 0.4773 0.2162 0.6382 0.6225 0.3266 0.6264 0.5923 0.5895 hom 608.70 20 3 15737698 . T C 608.70 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.43;VQSLOD=13.7995;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:48.16:642,48,0 3 16254172 16254172 G A exonic GALNT15 nonsynonymous SNV GALNT15:NM_001319051:exon6:c.G1294A:p.A432T,GALNT15:NM_054110:exon6:c.G1294A:p.A432T 0.15 0.34 0.16 0.002 0.11 0.094 0.1170 0.3092 0.1255 0.0007 0.0883 0.1072 0.1013 0.1030 0.18 0.29 0.12 0.28 0.12 rs17851238 . . . . . . . . . . . . . 0.369 0.116 T 0.651 0.388 P 0.154 0.327 B 0.935 0.084 N 0.730 0.298 P 0.71 0.187 N 0.28 0.591 T -1.07 0.291 N 0.29 0.349 -1.021 0.235 T 0.000 0.000 T . . . 1.825 0.280 15.13 0.986 0.428 0.892 0.493 D c -0.028 0.056 0.995 0.339 0.516 0.203 0 4.47 0.536 3.466 0.526 0.974 0.594 1.000 0.715 0.033 0.150 15.503 0.753 Nucleotide-diphospho-sugar transferases . . 0.1136 0.3092 0.1242 0.1384 0.0006 0.0878 0.1079 0.1041 0.1010 0.1600 0.302 0.1086 0.1258 0.0012 0.0890 0.1179 0.1141 het 1515.18 123 3 16254172 . G A 1515.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.494;DP=123;Dels=0.00;FS=3.363;HRun=0;HaplotypeScore=2.3046;MQ=59.15;MQ0=0;MQRankSum=0.058;QD=12.32;ReadPosRankSum=0.741;VQSLOD=6.1424;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,60:123:99:1545,0,1798 3 16268974 16268974 T A exonic GALNT15 synonymous SNV GALNT15:NM_001319052:exon5:c.T477A:p.R159R,GALNT15:NM_054110:exon10:c.T1887A:p.R629R 0.36 0.53 0.39 0.2 0.39 0.25 0.3540 0.4962 0.3655 0.1998 0.3038 0.3719 0.3491 0.2850 0.41 0.49 0.38 0.38 0.32 rs15767 COSM1420350 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.530 P . . . . . . . . . . . -0.930 0.441 T 0.000 0.000 T . . . -0.059 0.088 2.057 0.699 0.088 0.002 0.012 N c -0.765 -0.903 0.010 0.120 0.624 0.395 0 -2.78 0.055 -0.135 0.103 -0.508 0.051 0.005 0.169 0.270 0.232 7.367 0.258 Ricin B\x2c lectin domain . . 0.3509 0.4971 0.3744 0.3508 0.1952 0.3030 0.3749 0.3815 0.2824 0.3864 0.5077 0.4175 0.3344 0.1780 0.2986 0.3611 0.3415 het 1210.09 109 3 16268974 . T A 1210.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.033;DP=109;Dels=0.00;FS=1.566;HRun=0;HaplotypeScore=0.8941;MQ=59.02;MQ0=0;MQRankSum=-0.824;QD=11.10;ReadPosRankSum=-0.398;VQSLOD=5.6308;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,50:109:99:1240,0,1492 3 16268986 16268986 C A exonic GALNT15 synonymous SNV GALNT15:NM_001319052:exon5:c.C489A:p.I163I,GALNT15:NM_054110:exon10:c.C1899A:p.I633I 0.29 0.34 0.35 0.2 0.36 0.22 0.3203 0.3329 0.3492 0.1993 0.2805 0.3503 0.3150 0.2508 0.35 0.32 0.36 0.29 0.31 rs14576 COSM3759854 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 1.447 0.237 13.03 0.746 0.104 0.137 0.178 N c -0.200 -0.268 0.989 0.317 0.624 0.395 0 5.4 0.779 1.095 0.304 0.935 0.490 0.004 0.165 0.001 0.043 15.028 0.712 Ricin B\x2c lectin domain . . 0.3207 0.3332 0.3567 0.3297 0.1949 0.2797 0.3533 0.3558 0.2477 0.3243 0.3385 0.3888 0.3212 0.1772 0.2800 0.3396 0.3125 het 1140.41 114 3 16268986 . C A 1140.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.909;DP=114;Dels=0.00;FS=3.527;HRun=2;HaplotypeScore=5.0934;MQ=58.84;MQ0=0;MQRankSum=-0.012;QD=10.00;ReadPosRankSum=2.067;VQSLOD=4.5174;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,47:114:99:1170,0,1728 3 16305674 16305674 C G exonic DPH3 synonymous SNV DPH3:NM_206831:exon2:c.G171C:p.V57V 0.43 0.31 0.47 0.48 0.43 0.53 0.4485 0.3487 0.4728 0.5146 0.3939 0.4330 0.4433 0.5434 0.4 0.35 0.42 0.42 0.34 rs14080 COSM1179801 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4405 0.3336 0.4647 0.4829 0.5056 0.3891 0.4193 0.4345 0.5332 0.4016 0.3349 0.4725 0.5265 0.5205 0.4009 0.4200 0.4211 hom 889.94 29 3 16305674 . C G 889.94 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.69;VQSLOD=13.2986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:69.22:923,69,0 3 16312564 16312564 C T exonic OXNAD1 synonymous SNV OXNAD1:NM_001330670:exon3:c.C159T:p.H53H,OXNAD1:NM_001330671:exon3:c.C159T:p.H53H,OXNAD1:NM_138381:exon3:c.C105T:p.H35H 0.42 0.26 0.47 0.48 0.43 0.54 0.4374 0.3017 0.4657 0.5071 0.3876 0.4254 0.4339 0.5354 0.39 0.31 0.42 0.42 0.36 rs842259 COSM1566608 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4397 0.2949 0.4636 0.4862 0.5026 0.3904 0.4224 0.4351 0.5349 0.3888 0.2921 0.4677 0.5265 0.5099 0.4012 0.4199 0.4196 hom 5923.14 181 3 16312564 . C T 5923.14 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.481;DP=181;DS;Dels=0.00;FS=4.357;HRun=0;HaplotypeScore=1.5777;MQ=59.69;MQ0=0;MQRankSum=1.520;QD=32.72;ReadPosRankSum=1.289;VQSLOD=4.6542;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,179:181:99:5885,450,0 3 16327855 16327855 T G exonic OXNAD1 nonsynonymous SNV OXNAD1:NM_001330670:exon5:c.T244G:p.S82A,OXNAD1:NM_001330671:exon5:c.T244G:p.S82A,OXNAD1:NM_138381:exon5:c.T190G:p.S64A 0.43 0.31 0.47 0.48 0.43 0.53 0.4417 0.3417 0.4698 0.5131 0.3870 0.4255 0.4372 0.5354 0.4 0.35 0.42 0.42 0.31 rs842274 COSM3759855 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.589 0.058 T 0.003 0.102 B 0.006 0.112 B 0.000 0.447 N 0.646 0.306 P 1.03 0.257 L 2.29 0.171 T -0.73 0.206 N 0.108 0.312 -0.911 0.467 T 0.000 0.000 T . . . 1.035 0.193 10.86 0.960 0.279 0.752 0.365 D c -0.487 -0.355 1.000 0.747 0.732 0.924 0 2.89 0.326 2.062 0.408 0.891 0.395 1.000 0.715 0.644 0.297 6.693 0.222 Ferredoxin reductase-type FAD-binding domain ENSG00000131378.9|ENSG00000154813.5|ENSG00000271964.1|ENSG00000271964.1|ENSG00000154813.5|ENSG00000154813.5|ENSG00000271964.1|ENSG00000271964.1|ENSG00000271964.1|ENSG00000271964.1|ENSG00000154813.5|ENSG00000154814.9|ENSG00000154813.5|ENSG00000271964.1|ENSG00000272529.1|ENSG00000271964.1|ENSG00000271964.1|ENSG00000154814.9 Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid|Whole_Blood 0.4434 0.3351 0.4670 0.4859 0.5098 0.3906 0.4225 0.4389 0.5354 0.4013 0.3332 0.4702 0.5265 0.5168 0.4006 0.4207 0.4242 hom 4501.28 150 3 16327855 . T G 4501.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.709;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6857;MQ=58.69;MQ0=0;MQRankSum=1.592;QD=30.01;ReadPosRankSum=0.632;VQSLOD=7.7158;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,148:150:99:4501,343,0 3 17053499 17053499 A G exonic PLCL2 synonymous SNV PLCL2:NM_015184:exon2:c.A2283G:p.G761G 0.62 0.67 0.58 0.63 0.53 0.67 0.5796 0.6468 0.6181 0.6502 0.6304 0.5320 0.5728 0.6457 0.56 0.63 0.53 0.58 0.43 rs4602367 COSM4002515;COSM4002514 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5807 0.6524 0.6201 0.5055 0.6494 0.6382 0.5275 0.5566 0.6431 0.5850 0.6376 0.6372 0.5 0.6623 0.6357 0.5321 0.5978 het 1743.33 119 3 17053499 . A G 1743.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.115;DP=119;Dels=0.00;FS=1.491;HRun=2;HaplotypeScore=5.9103;MQ=59.10;MQ0=0;MQRankSum=1.948;QD=14.65;ReadPosRankSum=0.395;VQSLOD=4.4481;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:53,66:119:99:1773,0,1411 3 17053613 17053613 C T exonic PLCL2 synonymous SNV PLCL2:NM_015184:exon2:c.C2397T:p.P799P 0.0068 0.0008 0.0043 . 0.026 0.0041 0.0146 0.0030 0.0037 0 0.0325 0.0201 0.0111 0.0076 0.015 0.0043 0.02 . 0.016 rs61751588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0144 0.0027 0.0039 0.0067 0 0.0319 0.0204 0.0139 0.0077 0.0169 0.0033 0.0072 0.0066 0 0.0306 0.0240 0.0194 het 1690.95 138 3 17053613 . C T 1690.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.145;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=59.87;MQ0=0;MQRankSum=0.284;QD=12.25;ReadPosRankSum=1.885;VQSLOD=5.2204;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,64:138:99:1721,0,1838 3 17208267 17208267 T C exonic TBC1D5 nonsynonymous SNV TBC1D5:NM_001349091:exon19:c.A1678G:p.I560V,TBC1D5:NM_001349080:exon20:c.A2086G:p.I696V,TBC1D5:NM_001349086:exon20:c.A1744G:p.I582V,TBC1D5:NM_001349087:exon20:c.A1678G:p.I560V,TBC1D5:NM_001349089:exon20:c.A1678G:p.I560V,TBC1D5:NM_001349073:exon21:c.A2152G:p.I718V,TBC1D5:NM_001349077:exon21:c.A2086G:p.I696V,TBC1D5:NM_001349078:exon21:c.A2086G:p.I696V,TBC1D5:NM_001349081:exon21:c.A2107G:p.I703V,TBC1D5:NM_001349083:exon21:c.A1744G:p.I582V,TBC1D5:NM_001349088:exon21:c.A1678G:p.I560V,TBC1D5:NM_001349090:exon21:c.A1678G:p.I560V,TBC1D5:NM_014744:exon21:c.A2086G:p.I696V,TBC1D5:NM_001349074:exon22:c.A2152G:p.I718V,TBC1D5:NM_001349075:exon22:c.A2152G:p.I718V,TBC1D5:NM_001349076:exon22:c.A2086G:p.I696V,TBC1D5:NM_001349079:exon22:c.A2086G:p.I696V,TBC1D5:NM_001349082:exon22:c.A1744G:p.I582V,TBC1D5:NM_001349084:exon22:c.A1744G:p.I582V,TBC1D5:NM_001349085:exon22:c.A1744G:p.I582V,TBC1D5:NM_001134381:exon23:c.A2152G:p.I718V 0.27 0.21 0.31 0.079 0.39 0.38 0.3369 0.2293 0.2601 0.0745 0.3163 0.3857 0.3414 0.4076 0.34 0.23 0.4 0.22 0.39 rs1138454 . . . . . . . . . . . . . 0.522 0.072 T 0.0 0.026 B 0.0 0.013 B 0.126 0.028 N 1 0.090 P 0 0.065 N 1.61 0.286 T 0.04 0.065 N 0.012 0.001 -1.010 0.271 T 0.000 0.000 T . . . -2.111 0.007 0.001 0.330 0.019 0.069 0.128 N c -1.796 -1.890 1.000 0.747 0.707 0.730 0 -9.41 0.005 -1.954 0.016 -0.725 0.036 0.000 0.063 0.000 0.016 4.398 0.107 . . . 0.3343 0.2216 0.2638 0.3527 0.0742 0.3208 0.3931 0.3356 0.4038 0.3158 0.2228 0.2679 0.3833 0.0759 0.3128 0.3945 0.3671 het 1084.28 108 3 17208267 . T C 1084.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DP=108;Dels=0.00;FS=1.576;HRun=0;HaplotypeScore=3.3746;MQ=59.03;MQ0=0;MQRankSum=-0.201;QD=10.04;ReadPosRankSum=-0.151;VQSLOD=6.2862;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,48:108:99:1114,0,1609 3 18427924 18427924 G T exonic SATB1 synonymous SNV SATB1:NM_001322876:exon7:c.C1170A:p.P390P,SATB1:NM_001131010:exon8:c.C1386A:p.P462P,SATB1:NM_001195470:exon8:c.C1386A:p.P462P,SATB1:NM_001322871:exon8:c.C1386A:p.P462P,SATB1:NM_001322873:exon8:c.C1386A:p.P462P,SATB1:NM_001322874:exon8:c.C1386A:p.P462P,SATB1:NM_001322875:exon8:c.C1386A:p.P462P,SATB1:NM_002971:exon8:c.C1386A:p.P462P,SATB1:NM_001322872:exon9:c.C1386A:p.P462P 0.69 0.58 0.73 0.92 0.57 0.69 0.6373 0.5839 0.8167 0.9220 0.5423 0.5728 0.6090 0.6965 0.58 0.58 0.58 0.73 0.48 rs2229261 COSM3759907 1(bone);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6417 0.5817 0.8009 0.5284 0.9180 0.5363 0.5781 0.5972 0.6945 0.5986 0.5830 0.7823 0.4834 0.9157 0.5361 0.5798 0.6010 hom 3806.85 127 3 18427924 . G T 3806.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.705;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5774;MQ=59.19;MQ0=0;MQRankSum=-0.880;QD=29.98;ReadPosRankSum=-0.577;VQSLOD=7.9489;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,125:127:99:3806,313,0 3 19575232 19575232 C T exonic KCNH8 nonsynonymous SNV KCNH8:NM_144633:exon16:c.C2965T:p.P989S 0.0064 0.0015 0.0072 . 0.021 0.0041 0.0131 0.0028 0.0079 0 0.0056 0.0203 0.0088 0.0042 0.015 0.0048 0.02 0.011 0.041 rs34561654 . . . . . . . . . . . . . 0.488 0.080 T 0.0 0.026 B 0.001 0.040 B 0.135 0.185 U 0.923 0.272 N 0.82 0.209 L -4.77 0.981 D -1.86 0.435 N 0.023 0.006 0.008 0.824 D 0.620 0.866 D . . . 0.462 0.138 7.131 0.197 0.007 0.509 0.285 D c -0.426 -0.272 0.000 0.068 0.638 0.428 0 3.09 0.345 0.882 0.276 0.935 0.490 0.997 0.399 1.000 0.888 2.446 0.042 . . . 0.0135 0.0032 0.0083 0.0550 5.801e-05 0.0050 0.0190 0.0164 0.0044 0.0101 0.0038 0.0119 0.0563 0 0.0063 0.0147 0.0112 het 2836.27 207 3 19575232 . C T 2836.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.040;DP=207;Dels=0.00;FS=1.131;HRun=1;HaplotypeScore=5.9788;MQ=58.57;MQ0=0;MQRankSum=0.106;QD=13.70;ReadPosRankSum=-0.233;VQSLOD=4.4396;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,107:207:99:2866,0,2729 3 19924058 19924058 G A exonic EFHB nonsynonymous SNV EFHB:NM_144715:exon12:c.C2312T:p.T771I,EFHB:NM_001330688:exon14:c.C1922T:p.T641I 0.019 0.0023 0.019 . 0.034 0.044 0.0620 0.0100 0.0331 0.0009 0.0272 0.0770 0.0602 0.0960 0.039 0.01 0.053 0.022 . rs76398910 . . . . . . . . . . . . . 0.066 0.361 T 0.919 0.489 P 0.406 0.447 B 0.083 0.208 N 0.997 0.229 N . . . 3.1 0.237 T -2.78 0.589 D 0.071 0.118 -1.122 0.022 T 0.011 0.044 T . . . 1.977 0.298 16.06 0.997 0.781 0.968 0.710 D c 0.076 0.065 0.110 0.166 0.554 0.246 0 2.6 0.300 3.661 0.540 1.048 0.713 1.000 0.715 0.951 0.427 11.046 0.469 EF-hand domain pair . . 0.0431 0.0071 0.0211 0.0946 0.0005 0.0220 0.0520 0.0402 0.0759 0.0330 0.0076 0.0215 0.1026 0.0006 0.0215 0.0521 0.0510 het 464.67 43 3 19924058 . G A 464.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.387;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=59.03;MQ0=0;MQRankSum=-0.868;QD=10.81;ReadPosRankSum=-1.357;VQSLOD=5.3473;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,19:43:99:495,0,669 3 19930130 19930130 A T exonic EFHB nonsynonymous SNV EFHB:NM_144715:exon10:c.T1739A:p.M580K,EFHB:NM_001330688:exon12:c.T1349A:p.M450K 0.12 0.12 0.085 0.083 0.097 0.2 0.1609 0.1300 0.0967 0.1147 0.0746 0.1600 0.1799 0.2645 0.12 0.11 0.12 0.14 . rs76305623 COSM1318688;COSM1318689 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.664 0.046 T 0.0 0.026 B 0.002 0.093 B 0.654 0.059 N 1 0.090 P -1.525 0.005 N -0.39 0.692 T -1.23 0.320 N 0.079 0.289 -1.097 0.044 T 0.001 0.003 T . . . 1.014 0.191 10.74 0.739 0.102 0.077 0.135 N c -1.028 -0.890 1.000 0.473 0.554 0.283 0 0.447 0.157 0.794 0.264 1.199 0.960 0.001 0.137 0.807 0.338 4.697 0.121 EF-hand domain|EF-hand domain pair . . 0.1157 0.1124 0.0610 0.1736 0.0855 0.0532 0.1131 0.1149 0.2350 0.1075 0.1177 0.0778 0.1821 0.0960 0.0554 0.1146 0.1141 het 149.62 18 3 19930130 . A T 149.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.669;DP=18;Dels=0.00;FS=2.112;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.890;QD=8.31;ReadPosRankSum=1.358;VQSLOD=5.2663;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,6:18:99:180,0,304 3 19959756 19959756 G A exonic EFHB nonsynonymous SNV EFHB:NM_144715:exon4:c.C1145T:p.T382I,EFHB:NM_001330688:exon6:c.C755T:p.T252I 0.61 0.83 0.54 0.34 0.65 0.62 0.6296 0.8074 0.3828 0.3307 0.6858 0.6733 0.6479 0.6471 0.71 0.8 0.67 0.67 . rs2929366 . . . . . . . . . . . . . 0.564 0.069 T 0.0 0.026 B 0.001 0.040 B 0.820 0.092 N 1 0.090 P -1.4 0.006 N 1.9 0.317 T 0.73 0.021 N 0.018 0.248 -1.013 0.259 T 0.000 0.000 T . . . 0.399 0.132 6.607 0.823 0.136 0.006 0.026 N c -1.102 -1.016 0.000 0.029 0.554 0.283 0 1.58 0.224 -0.167 0.098 0.244 0.267 0.000 0.063 0.602 0.289 0.582 0.007 . ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13 Adipose_Subcutaneous|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6151 0.8097 0.4026 0.6602 0.3274 0.6895 0.6682 0.6216 0.6471 0.6925 0.8086 0.4436 0.65 0.3337 0.6840 0.6823 0.6608 het 4349.58 250 3 19959756 . G A 4349.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.447;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1806;MQ=59.46;MQ0=0;MQRankSum=-0.054;QD=17.40;ReadPosRankSum=-0.637;VQSLOD=4.9506;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:110,140:250:99:3690,0,3072 3 19961330 19961330 C T exonic EFHB nonsynonymous SNV EFHB:NM_144715:exon3:c.G991A:p.V331I,EFHB:NM_001330688:exon5:c.G601A:p.V201I 0.67 0.88 0.62 0.34 0.78 0.67 0.7198 0.8822 0.4468 0.3305 0.7814 0.7880 0.7428 0.7119 0.78 0.83 0.76 0.45 . rs2931403 COSM5000463;COSM5000464 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.003 0.080 B 0.147 0.181 N 1 0.090 P -1.64 0.004 N 1.99 0.299 T 0.26 0.045 N 0.015 0.141 -0.975 0.361 T 0.000 0.000 T . . . -1.684 0.013 0.002 0.176 0.005 0.002 0.012 N c -1.932 -1.921 1.000 0.439 0.554 0.246 0 -6.78 0.016 -0.638 0.055 -0.337 0.073 0.005 0.169 0.845 0.352 0.804 0.010 . . . 0.7061 0.8809 0.4692 0.8061 0.3275 0.7856 0.7848 0.7288 0.7101 0.7801 0.8803 0.5108 0.8046 0.3350 0.7709 0.7876 0.7597 het 1198.26 110 3 19961330 . C T 1198.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.239;DP=110;Dels=0.00;FS=2.594;HRun=1;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-0.018;QD=10.89;ReadPosRankSum=0.851;VQSLOD=6.0644;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,51:110:99:1228,0,1415 3 19961331 19961331 T C exonic EFHB synonymous SNV EFHB:NM_144715:exon3:c.A990G:p.S330S,EFHB:NM_001330688:exon5:c.A600G:p.S200S 0.2 0.32 0.12 0.11 0.15 0.23 0.1589 0.2827 0.0642 0.1080 0.1314 0.1426 0.1623 0.2512 0.0029 0.0054 0.0016 . . rs2929362 COSM3760024;COSM3760023 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1536 0.2862 0.0715 0.2440 0.1077 0.1325 0.1379 0.1397 0.2490 0.1746 0.2799 0.0811 0.2616 0.1017 0.1277 0.1377 0.1452 het 1241.76 110 3 19961331 . T C 1241.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.100;DP=110;Dels=0.00;FS=1.587;HRun=1;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=1.355;QD=11.29;ReadPosRankSum=0.725;VQSLOD=6.2379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,51:110:99:1272,0,1475 3 19992432 19992432 G T exonic RAB5A synonymous SNV RAB5A:NM_001292048:exon2:c.G42T:p.T14T,RAB5A:NM_004162:exon2:c.G42T:p.T14T 0.62 0.74 0.62 0.32 0.73 0.64 0.6856 0.7450 0.4550 0.3112 0.7361 0.7613 0.6817 0.6794 0.76 0.75 0.76 0.59 0.66 rs6773437 COSM5618998 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6744 0.7467 0.4767 0.6868 0.3125 0.7409 0.7655 0.6707 0.6750 0.7300 0.7507 0.5323 0.6821 0.3148 0.7457 0.7708 0.7362 hom 2651.30 89 3 19992432 . G T 2651.30 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.77;MQ0=0;QD=29.79;VQSLOD=8.5218;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2684,205,0 3 21462754 21462754 A G exonic ZNF385D synonymous SNV ZNF385D:NM_024697:exon8:c.T1140C:p.P380P 0.8 0.74 0.81 0.9 0.76 0.83 0.7835 0.7566 0.8222 0.9078 0.8104 0.7531 0.7954 0.8194 0.76 0.76 0.76 0.25 0.79 rs451242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7879 0.7533 0.8148 0.7640 0.9072 0.8184 0.7529 0.7842 0.8191 0.7812 0.76 0.8386 0.7682 0.9026 0.8202 0.7693 0.7684 hom 902.87 30 3 21462754 . A G 902.87 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=30.10;VQSLOD=8.4444;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:75.22:936,75,0 3 21462787 21462787 G A exonic ZNF385D synonymous SNV ZNF385D:NM_024697:exon8:c.C1107T:p.S369S 0.92 0.98 0.94 1. 0.81 0.83 0.8557 0.9620 0.9477 0.9988 0.7682 0.8212 0.8462 0.8242 0.87 0.95 0.83 0.2 0.77 rs427233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.859 0.9642 0.9407 0.8862 0.9991 0.7750 0.8217 0.8596 0.8233 0.8681 0.9585 0.9332 0.8874 0.9988 0.7833 0.8204 0.8173 het 390.21 29 3 21462787 . G A 390.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.462;DP=29;Dels=0.00;FS=1.455;HRun=0;HaplotypeScore=0.0000;MQ=58.70;MQ0=0;MQRankSum=-1.637;QD=13.46;ReadPosRankSum=0.109;VQSLOD=4.9649;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,15:29:99:420,0,412 3 23848835 23848835 A C exonic UBE2E1 nonsynonymous SNV UBE2E1:NM_003341:exon2:c.A75C:p.E25D,UBE2E1:NM_182666:exon2:c.A75C:p.E25D 0.041 0.0008 0.15 0.001 0.059 0.042 0.0619 0.0135 0.1469 0.0015 0.0773 0.0637 0.0618 0.0510 0.045 0.016 0.06 0.022 0.098 rs36060625 . . . . . . . . . . . . . 0.322 0.154 T 0.002 0.090 B 0.004 0.093 B 0.001 0.406 N 0.984 0.400 D 0.955 0.240 L -0.27 0.674 T -1.15 0.352 N 0.092 0.097 -1.140 0.014 T 0.003 0.009 T . . . 0.571 0.149 7.952 0.911 0.198 0.681 0.334 D c -0.780 -0.625 1.000 0.747 0.789 0.998 0 3.31 0.369 2.834 0.476 -0.168 0.106 1.000 0.715 0.575 0.284 5.934 0.183 Ubiquitin-conjugating enzyme/RWD-like . . 0.0659 0.0123 0.1452 0.0420 0.0012 0.0770 0.0639 0.0588 0.0510 0.0484 0.0134 0.1420 0.0467 0.0012 0.0843 0.0596 0.0593 het 1653.52 137 3 23848835 . A C 1653.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.846;DP=137;Dels=0.00;FS=1.400;HRun=0;HaplotypeScore=6.2803;MQ=58.72;MQ0=0;MQRankSum=-0.811;QD=12.07;ReadPosRankSum=-1.858;VQSLOD=3.5286;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,68:137:99:1684,0,1694 3 23934772 23934772 G A exonic NKIRAS1 synonymous SNV NKIRAS1:NM_020345:exon5:c.C393T:p.D131D 0.15 0.28 0.18 0.003 0.068 0.21 0.1073 0.2446 0.1863 0.0054 0.0962 0.0725 0.0914 0.1651 0.13 0.24 0.067 0.14 0.11 rs3762775 COSM3760033 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1072 0.2450 0.1859 0.0781 0.0057 0.0936 0.0719 0.0914 0.1598 0.1216 0.2465 0.1695 0.0728 0.0049 0.1045 0.0664 0.0878 hom 5646.33 185 3 23934772 . G A 5646.33 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.226;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=1.283;QD=30.52;ReadPosRankSum=-0.421;VQSLOD=8.8183;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,184:185:99:5612,409,0 3 24006477 24006477 T A exonic NR1D2 nonsynonymous SNV NR1D2:NM_001145425:exon6:c.T931A:p.L311M,NR1D2:NM_005126:exon6:c.T1156A:p.L386M 1. 1. 1. 1. 1. 1. 0.9999 1 1 1 1 0.9999 1 1 . . . 1. 1. rs4858097 COSM4591646 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 0.9999 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 4432.99 147 3 24006477 . T A 4432.99 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8284;MQ=58.95;MQ0=0;QD=30.16;VQSLOD=7.5993;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4432,334,0 3 27297816 27297816 G C exonic NEK10 synonymous SNV NEK10:NM_152534:exon24:c.C2061G:p.T687T,NEK10:NM_199347:exon24:c.C2061G:p.T687T 0.59 0.97 0.61 0.23 0.54 0.49 0.5492 0.9126 0.6349 0.2208 0.5158 0.5346 0.5475 0.5032 0.66 0.9 0.54 0.66 0.48 rs3213930 COSM1179804;COSM1179803;COSM1179802 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5311 0.9144 0.6131 0.5525 0.2005 0.5188 0.5243 0.5305 0.4813 0.6218 0.9061 0.5916 0.5762 0.2191 0.5184 0.5334 0.5133 het 691.05 76 3 27297816 . G C 691.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.571;DP=76;Dels=0.00;FS=1.862;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;MQRankSum=0.763;QD=9.09;ReadPosRankSum=-0.026;VQSLOD=5.6522;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,32:76:99:721,0,1140 3 27332177 27332177 T C exonic NEK10 synonymous SNV NEK10:NM_152534:exon20:c.A1674G:p.G558G,NEK10:NM_199347:exon20:c.A1674G:p.G558G 0.39 0.85 0.26 0.18 0.26 0.21 0.2851 0.7581 0.2544 0.1541 0.2492 0.2618 0.2561 0.2044 0.41 0.73 0.27 0.49 . rs674303 COSM5021377;COSM5021378 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2766 0.7706 0.2503 0.2282 0.1499 0.2498 0.2672 0.2705 0.2016 0.4030 0.7557 0.2632 0.2233 0.1493 0.2408 0.2821 0.2843 het 1033.56 60 3 27332177 . T C 1033.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.524;DP=60;Dels=0.00;FS=1.076;HRun=2;HaplotypeScore=1.6643;MQ=58.05;MQ0=0;MQRankSum=0.334;QD=17.23;ReadPosRankSum=-0.334;VQSLOD=4.8236;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,37:60:99:1064,0,604 3 27424718 27424718 A G exonic SLC4A7 synonymous SNV SLC4A7:NM_001258379:exon23:c.T3132C:p.D1044D,SLC4A7:NM_001258380:exon23:c.T3117C:p.D1039D,SLC4A7:NM_001321107:exon23:c.T3132C:p.D1044D,SLC4A7:NM_001321108:exon23:c.T3144C:p.D1048D,SLC4A7:NM_001321103:exon24:c.T3516C:p.D1172D,SLC4A7:NM_001321104:exon24:c.T3477C:p.D1159D,SLC4A7:NM_001321105:exon24:c.T3477C:p.D1159D,SLC4A7:NM_001321106:exon24:c.T3465C:p.D1155D,SLC4A7:NM_003615:exon24:c.T3489C:p.D1163D 0.93 0.86 0.94 1. 0.93 0.93 0.9370 0.8740 0.9789 0.9998 0.9274 0.9360 0.9339 0.9224 0.92 0.87 0.94 0.9 0.9 rs1472256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9405 0.8744 0.9766 0.9284 0.9998 0.9243 0.9385 0.9367 0.9246 0.9240 0.8748 0.9702 0.9570 0.9994 0.9270 0.9396 0.9389 hom 3386.35 112 3 27424718 . A G 3386.35 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.33;MQ0=0;QD=30.24;VQSLOD=8.7236;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3386,259,0 3 27442336 27442336 G A exonic SLC4A7 synonymous SNV SLC4A7:NM_001258379:exon15:c.C1962T:p.N654N,SLC4A7:NM_001258380:exon15:c.C1947T:p.N649N,SLC4A7:NM_001321107:exon15:c.C1962T:p.N654N,SLC4A7:NM_001321108:exon15:c.C1974T:p.N658N,SLC4A7:NM_001321103:exon16:c.C2346T:p.N782N,SLC4A7:NM_001321104:exon16:c.C2307T:p.N769N,SLC4A7:NM_001321105:exon16:c.C2307T:p.N769N,SLC4A7:NM_001321106:exon16:c.C2295T:p.N765N,SLC4A7:NM_003615:exon16:c.C2319T:p.N773N 0.13 0.045 0.16 0.057 0.22 0.19 0.1957 0.0747 0.1986 0.0531 0.1776 0.2374 0.1865 0.1844 0.19 0.08 0.25 0.11 0.2 rs3736312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1963 0.0713 0.1948 0.2146 0.0498 0.1752 0.2434 0.2038 0.1801 0.1770 0.0710 0.2033 0.2252 0.0495 0.1731 0.2502 0.1908 het 1529.90 151 3 27442336 . G A 1529.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.374;DP=151;Dels=0.00;FS=1.297;HRun=0;HaplotypeScore=2.8511;MQ=57.91;MQ0=0;MQRankSum=-0.104;QD=10.13;ReadPosRankSum=0.100;VQSLOD=4.9566;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,66:151:99:1560,0,2006 3 27472936 27472936 C T exonic SLC4A7 nonsynonymous SNV SLC4A7:NM_001321103:exon7:c.G1003A:p.E335K,SLC4A7:NM_001321104:exon7:c.G964A:p.E322K,SLC4A7:NM_001321105:exon7:c.G964A:p.E322K,SLC4A7:NM_001321106:exon7:c.G952A:p.E318K,SLC4A7:NM_003615:exon7:c.G976A:p.E326K 0.13 0.046 0.16 0.057 0.23 0.19 0.1982 0.0750 0.2006 0.0533 0.1781 0.2410 0.1861 0.1860 0.19 0.082 0.25 0.11 0.19 rs3755652 . . . . . . . . . . . . . 0.936 0.025 T 0.012 0.151 B 0.037 0.218 B 0.016 0.281 N 0.946 0.588 P 0.55 0.145 N -1.01 0.773 T 0.01 0.069 N 0.14 0.174 -1.102 0.038 T 0.000 0.000 T . . . 1.100 0.200 11.21 0.742 0.103 0.663 0.328 D c -0.572 -0.332 1.000 0.747 0.372 0.050 0 5.12 0.693 2.533 0.451 0.100 0.199 0.996 0.391 0.761 0.325 15.793 0.781 Band 3 cytoplasmic domain ENSG00000163491.12 Heart_Left_Ventricle 0.1994 0.0724 0.1976 0.2184 0.0503 0.1763 0.2477 0.2068 0.1825 0.1795 0.0714 0.2053 0.2252 0.05 0.1734 0.2547 0.1935 het 2454.96 206 3 27472936 . C T 2454.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.867;DP=206;DS;Dels=0.00;FS=0.566;HRun=2;HaplotypeScore=6.1219;MQ=59.44;MQ0=0;MQRankSum=0.152;QD=11.92;ReadPosRankSum=1.578;VQSLOD=4.7727;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,90:206:99:2485,0,3311 3 27473066 27473066 A G exonic SLC4A7 synonymous SNV SLC4A7:NM_001321103:exon7:c.T873C:p.L291L,SLC4A7:NM_001321104:exon7:c.T834C:p.L278L,SLC4A7:NM_001321105:exon7:c.T834C:p.L278L,SLC4A7:NM_001321106:exon7:c.T822C:p.L274L,SLC4A7:NM_003615:exon7:c.T846C:p.L282L 0.16 0.17 0.18 0.058 0.23 0.19 0.2091 0.1912 0.2065 0.0534 0.1783 0.2413 0.1921 0.1866 0.23 0.19 0.25 0.22 0.2 rs13077400 COSM4005523 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2079 0.1919 0.2029 0.2185 0.0504 0.1763 0.2481 0.2124 0.1831 0.2130 0.1888 0.2124 0.2252 0.05 0.1732 0.2548 0.1976 het 2272.76 176 3 27473066 . A G 2272.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.613;DP=176;Dels=0.00;FS=3.542;HRun=0;HaplotypeScore=6.1325;MQ=59.39;MQ0=0;MQRankSum=1.094;QD=12.91;ReadPosRankSum=1.916;VQSLOD=4.4849;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,93:176:99:2303,0,2200 3 27490194 27490194 T C exonic SLC4A7 synonymous SNV SLC4A7:NM_001258379:exon3:c.A225G:p.R75R,SLC4A7:NM_001258380:exon3:c.A210G:p.R70R,SLC4A7:NM_001321103:exon3:c.A237G:p.R79R,SLC4A7:NM_001321104:exon3:c.A237G:p.R79R,SLC4A7:NM_001321105:exon3:c.A237G:p.R79R,SLC4A7:NM_001321106:exon3:c.A225G:p.R75R,SLC4A7:NM_001321107:exon3:c.A225G:p.R75R,SLC4A7:NM_001321108:exon3:c.A237G:p.R79R,SLC4A7:NM_003615:exon3:c.A210G:p.R70R 0.12 0.034 0.15 0.057 0.21 0.19 0.1847 0.0630 0.1904 0.0534 0.1727 0.2217 0.1707 0.1824 0.18 0.068 0.23 0.076 0.21 rs13096477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1862 0.0600 0.1881 0.1909 0.0504 0.1710 0.2279 0.1936 0.1795 0.1649 0.0596 0.1942 0.21 0.0501 0.1677 0.2344 0.1813 het 1376.06 140 3 27490194 . T C 1376.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.672;DP=140;Dels=0.00;FS=2.195;HRun=1;HaplotypeScore=4.3053;MQ=59.12;MQ0=0;MQRankSum=-0.751;QD=9.83;ReadPosRankSum=-0.934;VQSLOD=5.3410;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,56:140:99:1406,0,2097 3 28520417 28520417 T A exonic ZCWPW2 nonsynonymous SNV ZCWPW2:NM_001324169:exon4:c.T605A:p.L202Q,ZCWPW2:NM_001040432:exon5:c.T605A:p.L202Q 0.45 0.32 0.47 0.62 0.43 0.48 0.4350 0.3489 0.4308 0.6247 0.3834 0.4210 0.4405 0.4691 0.4 0.35 0.43 0.42 0.39 rs1563656 COSM5021379 1(bone) . . . . . . . . . . . 0.418 0.099 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.205 0.041 N 1.41 0.334 T 0.83 0.018 N 0.043 0.393 -0.960 0.392 T 0.000 0.000 T . . . -0.355 0.065 0.495 0.139 0.003 0.004 0.021 N c -1.735 -1.770 0.000 0.012 0.554 0.246 0 0.225 0.145 -0.566 0.060 0.196 0.251 0.002 0.151 0.166 0.209 . . . . . 0.4285 0.3410 0.4216 0.4015 0.6214 0.3788 0.4186 0.4377 0.4677 0.4116 0.3496 0.4496 0.4404 0.6325 0.3891 0.4249 0.4343 het 948.03 80 3 28520417 . T A 948.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.593;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=-0.168;QD=11.85;ReadPosRankSum=1.516;VQSLOD=6.4027;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,40:80:99:978,0,1034 3 28533658 28533658 G A exonic ZCWPW2 nonsynonymous SNV ZCWPW2:NM_001324170:exon4:c.G533A:p.R178K 0.26 0.094 0.23 0.47 0.16 0.38 0.2038 0.1034 0.2505 0.4497 0.1392 0.1510 0.2099 0.3397 0.14 0.097 0.16 0.18 0.066 rs13100556 COSM3760036 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1974 0.0941 0.2256 0.1255 0.4451 0.1460 0.1491 0.1828 0.3258 0.1567 0.0974 0.2326 0.1258 0.4504 0.1376 0.1593 0.1807 het 545.10 54 3 28533658 . G A 545.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.920;DP=54;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.8824;MQ=57.78;MQ0=0;MQRankSum=0.348;QD=10.09;ReadPosRankSum=1.438;VQSLOD=4.9300;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,24:54:99:575,0,721 3 31712393 31712393 C T exonic OSBPL10 synonymous SNV OSBPL10:NM_001174060:exon8:c.G1617A:p.P539P,OSBPL10:NM_017784:exon9:c.G1809A:p.P603P 0.57 0.85 0.41 0.68 0.37 0.37 0.4289 0.7762 0.3526 0.6748 0.3727 0.3700 0.4383 0.3947 0.49 0.76 0.36 0.6 0.39 rs3749405 COSM3760043;COSM3760044 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4194 0.7799 0.3608 0.4846 0.6777 0.3674 0.3586 0.4181 0.3970 0.4973 0.7704 0.3768 0.4934 0.6836 0.3855 0.3574 0.4012 het 1865.84 169 3 31712393 . C T 1865.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.145;DP=169;DS;Dels=0.00;FS=1.476;HRun=0;HaplotypeScore=4.0063;MQ=58.87;MQ0=0;MQRankSum=-0.770;QD=11.04;ReadPosRankSum=0.862;VQSLOD=5.6997;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:98,71:169:99:1896,0,2487 3 31725316 31725316 G A exonic OSBPL10 synonymous SNV OSBPL10:NM_001174060:exon7:c.C1344T:p.H448H,OSBPL10:NM_017784:exon8:c.C1536T:p.H512H 0.23 0.098 0.29 0.32 0.31 0.21 0.2708 0.1219 0.2606 0.3167 0.3351 0.3007 0.2731 0.2008 0.23 0.13 0.28 0.2 0.27 rs2278959 COSM4002648;COSM4002649 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2725 0.1190 0.2597 0.3229 0.3175 0.3328 0.2924 0.2924 0.2019 0.2547 0.1226 0.2727 0.3079 0.2822 0.3481 0.3013 0.3092 het 2267.75 188 3 31725316 . G A 2267.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.583;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3369;MQ=59.80;MQ0=0;MQRankSum=0.045;QD=12.06;ReadPosRankSum=0.267;VQSLOD=5.7948;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,85:188:99:2298,0,2797 3 31789582 31789582 T C exonic OSBPL10 nonsynonymous SNV OSBPL10:NM_001174060:exon4:c.A568G:p.N190D,OSBPL10:NM_017784:exon5:c.A760G:p.N254D 0.43 0.046 0.56 0.74 0.44 0.52 0.4792 0.1089 0.6919 0.7564 0.4938 0.4536 0.4459 0.5055 0.33 0.12 0.44 0.35 0.44 rs2290532 COSM4157966;COSM4157965 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.639 0.140 T 0.992 0.629 D 0.724 0.532 P 0.000 0.559 D 0.443 0.494 P 0.865 0.215 L 1.02 0.407 T -1.38 0.387 N 0.012 0.015 -1.057 0.125 T 0.000 0.000 T . . . 1.265 0.217 12.09 0.990 0.492 0.897 0.500 D c -0.132 0.012 0.998 0.367 0.706 0.609 0 4.48 0.538 5.942 0.697 1.061 0.807 1.000 0.715 0.998 0.697 11.445 0.492 . . . 0.4809 0.1004 0.6657 0.3952 0.7539 0.4747 0.4426 0.4455 0.4924 0.3728 0.1055 0.6265 0.3940 0.7609 0.4774 0.4430 0.4459 het 644.16 38 3 31789582 . T C 644.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.180;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8930;MQ=59.01;MQ0=0;MQRankSum=-0.747;QD=16.95;ReadPosRankSum=0.717;VQSLOD=5.8304;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,23:38:99:674,0,350 3 32927509 32927509 G T exonic TRIM71 synonymous SNV TRIM71:NM_001039111:exon3:c.G1104T:p.T368T 0.99 0.97 1. 1. 1. 1. 0.9980 0.9763 0.9991 1 1 1 1 1 0.99 0.98 1. 1. 1. rs6774703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9984 0.9763 0.9991 1 1 1 1.0000 0.9991 1 0.9935 0.9773 0.9976 1 1 1 0.9999 1 hom 2874.56 87 3 32927509 . G T 2874.56 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8136;MQ=59.47;MQ0=0;QD=33.04;VQSLOD=9.1539;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2908,232,0 3 33055721 33055721 A G exonic GLB1 nonsynonymous SNV GLB1:NM_001135602:exon12:c.T1168C:p.C390R,GLB1:NM_000404:exon15:c.T1561C:p.C521R,GLB1:NM_001079811:exon15:c.T1471C:p.C491R,GLB1:NM_001317040:exon16:c.T1705C:p.C569R 0.93 0.74 0.97 1. 1. 1. 0.9800 0.7803 0.9877 1 1 0.9986 0.9878 0.9995 0.93 0.8 1. 0.94 0.99 rs4302331 . . Benign\x2cBenign not_specified\x2cnot_specified RCV000252845.1\x2cRCV000153326.2 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . 0.751 0.037 T 0.0 0.026 B 0.0 0.013 B 0.522 0.117 N 1 0.090 P . . . -3.08 0.926 D 1.67 0.007 N 0.045 0.025 -0.966 0.380 T 0.000 0.000 T . . . 0.428 0.135 6.854 0.473 0.038 0.014 0.047 N c -0.980 -0.957 0.705 0.227 0.732 0.924 0 1.5 0.219 0.385 0.203 0.138 0.222 0.009 0.180 0.039 0.156 1.786 0.028 Galactose-binding domain-like . . 0.9831 0.7768 0.9864 0.9987 1 1 0.9985 0.9890 0.9992 0.9371 0.7810 0.9821 0.9967 1 1 0.9990 0.9918 hom 2199.91 65 3 33055721 . A G 2199.91 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.29;MQ0=0;QD=33.84;VQSLOD=9.4909;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2233,184,0 3 33135592 33135592 T C exonic TMPPE synonymous SNV TMPPE:NM_001039770:exon2:c.A96G:p.A32A 0.015 0.0038 0.017 . 0.05 0.0072 0.0284 0.0086 0.0116 0.0001 0.0450 0.0404 0.0266 0.0124 0.027 0.0093 0.036 0.033 0.09 rs61749982 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0280 0.0082 0.0127 0.0228 0.0001 0.0465 0.0411 0.0258 0.0124 0.0298 0.0097 0.0227 0.0265 0.0006 0.0478 0.0406 0.0326 het 1289.12 102 3 33135592 . T C 1289.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.812;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6555;MQ=59.22;MQ0=0;MQRankSum=1.498;QD=12.64;ReadPosRankSum=-0.520;VQSLOD=5.4093;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,48:102:99:1319,0,1515 3 33138544 33138544 A G exonic GLB1 synonymous SNV GLB1:NM_000404:exon1:c.T34C:p.L12L,GLB1:NM_001135602:exon1:c.T34C:p.L12L,GLB1:NM_001317040:exon1:c.T34C:p.L12L 0.93 0.87 0.94 1. 0.9 0.95 0.9052 0.8692 0.9595 0.9996 0.8679 0.8802 0.9066 0.9532 0.88 0.88 0.89 . 0.82 rs7614776 COSM4157973;COSM4157974 4(thyroid) other|Benign|Benign not_specified|GM1_gangliosidosis|Mucopolysaccharidosis\x2c_Type_IV RCV000078712.9|RCV000302471.1|RCV000392270.1 MedGen|MedGen:Orphanet|MedGen CN169374|C0085131:ORPHA354|CN239405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9085 0.8663 0.9597 0.9127 0.9997 0.8694 0.8795 0.9058 0.9536 0.8804 0.8707 0.9614 0.9172 0.9988 0.8741 0.8700 0.8722 het 796.51 55 3 33138544 . A G 796.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.515;DP=55;Dels=0.00;FS=3.736;HRun=0;HaplotypeScore=0.0000;MQ=57.47;MQ0=0;MQRankSum=0.480;QD=14.48;ReadPosRankSum=0.295;VQSLOD=4.4430;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,29:55:99:827,0,591 3 33138549 33138549 G A exonic GLB1 nonsynonymous SNV GLB1:NM_000404:exon1:c.C29T:p.P10L,GLB1:NM_001135602:exon1:c.C29T:p.P10L,GLB1:NM_001317040:exon1:c.C29T:p.P10L 0.43 0.071 0.57 0.49 0.65 0.54 0.5625 0.1457 0.5380 0.5149 0.5998 0.6254 0.6037 0.5766 0.47 0.16 0.62 . 0.61 rs7637099 COSM4157975;COSM4157976 1(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Benign|Benign not_specified|GM1_gangliosidosis|Mucopolysaccharidosis\x2c_Type_IV RCV000078711.9|RCV000340960.1|RCV000402607.1 MedGen|MedGen:Orphanet|MedGen CN169374|C0085131:ORPHA354|CN239405 . . . . . . 0.676 0.721 T 0.0 0.026 B 0.0 0.013 B 0.040 0.019 N 1 0.090 P 0.895 0.225 L -4.21 0.995 D -0.32 0.845 N 0.059 0.302 -0.791 0.557 T 0.000 0.000 T . . . 1.406 0.232 12.82 0.869 0.163 0.101 0.155 N c -1.230 -1.236 1.000 0.747 0.442 0.072 0 -0.128 0.128 0.206 0.170 -0.997 0.022 0.000 0.063 0.000 0.016 4.872 0.129 . . . 0.5676 0.1369 0.5453 0.6802 0.5147 0.5948 0.6227 0.5873 0.5771 0.4812 0.1486 0.5472 0.6755 0.5142 0.5936 0.6291 0.6094 het 805.43 56 3 33138549 . G A 805.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.255;DP=56;Dels=0.00;FS=3.757;HRun=1;HaplotypeScore=3.8182;MQ=57.51;MQ0=0;MQRankSum=1.290;QD=14.38;ReadPosRankSum=0.715;VQSLOD=4.5272;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,30:56:99:835,0,609 3 33156020 33156020 C G exonic CRTAP nonsynonymous SNV CRTAP:NM_006371:exon1:c.C451G:p.L151V 0.0002 . . . 0.001 . 0.0006 0.0003 0.0009 0 0 0.0009 0 0 . . . . . rs202118861 . . . . . . . . . . . . . 0.003 0.682 D 0.982 0.637 D 0.763 0.552 P 0.000 0.843 D 1 0.810 D 2.825 0.825 M 0.1 0.614 T -2.27 0.506 N 0.775 0.767 -0.128 0.795 T 0.305 0.676 T 0.748 0.980 D 6.052 0.833 28.0 0.998 0.860 0.970 0.719 D c 0.589 0.514 1.0 0.983 0.789 0.998 0 4.18 0.483 3.788 0.549 0.719 0.303 1.000 0.715 0.997 0.653 16.629 0.848 Tetratricopeptide-like helical domain . . 0.0005 0.0002 0.0006 0 0 0 0.0010 0.0002 0 0.0005 0.0003 0 0 0 0 0.0008 0 het 143.99 14 3 33156020 . C G 143.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.339;DP=14;Dels=0.00;FS=5.434;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.663;QD=10.29;ReadPosRankSum=1.524;VQSLOD=3.6556;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:174,0,230 3 33174156 33174156 T G exonic CRTAP synonymous SNV CRTAP:NM_006371:exon5:c.T1032G:p.T344T 0.29 0.25 0.27 0.15 0.44 0.37 0.3752 0.2652 0.1911 0.1334 0.3916 0.4438 0.4064 0.4142 0.38 0.27 0.45 0.28 0.44 rs1135127 COSM149349 1(breast);1(stomach);1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Osteogenesis_Imperfecta\x2c_Recessive RCV000246595.2|RCV000263971.1 MedGen|MedGen CN169374|CN239451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3704 0.2637 0.2066 0.5365 0.1356 0.3949 0.4388 0.3835 0.4126 0.3602 0.2641 0.2656 0.4868 0.1346 0.3946 0.4323 0.4063 het 2023.44 177 3 33174156 . T G 2023.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.714;DP=177;Dels=0.00;FS=3.812;HRun=0;HaplotypeScore=5.1802;MQ=59.23;MQ0=0;MQRankSum=1.943;QD=11.43;ReadPosRankSum=-0.322;VQSLOD=4.4894;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,76:177:99:2053,0,2863 3 33174168 33174168 G A exonic CRTAP synonymous SNV CRTAP:NM_006371:exon5:c.G1044A:p.S348S 0.29 0.25 0.27 0.15 0.44 0.37 0.3751 0.2652 0.1911 0.1333 0.3916 0.4438 0.4064 0.4139 0.38 0.27 0.45 0.28 0.45 rs1135128 . . Benign|Benign not_specified|Osteogenesis_Imperfecta\x2c_Recessive RCV000251530.2|RCV000321518.1 MedGen|MedGen CN169374|CN239451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3704 0.2637 0.2065 0.5365 0.1354 0.3950 0.4388 0.3833 0.4124 0.3607 0.2645 0.2649 0.4868 0.1354 0.3948 0.4329 0.4061 het 1878.56 153 3 33174168 . G A 1878.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.584;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.41;MQ0=0;MQRankSum=0.422;QD=12.28;ReadPosRankSum=-1.527;VQSLOD=6.3363;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,66:153:99:1909,0,2420 3 33194990 33194990 C A exonic SUSD5 nonsynonymous SNV SUSD5:NM_015551:exon5:c.G1134T:p.E378D 0.66 0.73 0.64 0.85 0.39 0.65 0.5157 0.7087 0.7419 0.8642 0.4608 0.3942 0.4744 0.5763 0.49 0.69 0.39 0.6 . rs6810039 COSM3760051 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.378 N 1 0.090 P -2.135 0.001 N 3.36 0.059 T 2.35 0.003 N 0.024 0.007 -0.952 0.407 T 0.000 0.000 T . . . -1.075 0.029 0.011 0.323 0.019 0.014 0.046 N c -2.009 -1.948 1.000 0.747 0.707 0.730 0 -9.81 0.004 -0.935 0.040 -0.531 0.049 0.058 0.215 0.976 0.476 8.356 0.313 . ENSG00000170275.10|ENSG00000170275.10 Testis|Thyroid 0.5213 0.7103 0.7235 0.3378 0.8626 0.4655 0.3957 0.4909 0.5748 0.5243 0.7049 0.6551 0.3808 0.8661 0.4547 0.3994 0.4457 het 1197.03 98 3 33194990 . C A 1197.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.777;DP=98;Dels=0.00;FS=1.660;HRun=0;HaplotypeScore=0.8667;MQ=59.05;MQ0=0;MQRankSum=0.281;QD=12.21;ReadPosRankSum=-1.226;VQSLOD=6.5340;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,48:98:99:1227,0,1450 3 33195284 33195284 G A exonic SUSD5 synonymous SNV SUSD5:NM_015551:exon5:c.C840T:p.P280P 0.16 0.086 0.18 0.19 0.15 0.23 0.1649 0.0975 0.2025 0.2327 0.0995 0.1547 0.1667 0.2105 0.14 0.09 0.16 0.13 . rs61743511 COSM149350 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1653 0.0965 0.1964 0.1570 0.2298 0.0988 0.1565 0.1614 0.2126 0.1326 0.0945 0.1754 0.17 0.2386 0.1054 0.1455 0.1490 het 719.61 76 3 33195284 . G A 719.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.005;DP=76;Dels=0.00;FS=6.441;HRun=0;HaplotypeScore=3.6479;MQ=59.70;MQ0=0;MQRankSum=0.952;QD=9.47;ReadPosRankSum=-0.364;VQSLOD=4.3074;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,29:76:99:750,0,1321 3 33195309 33195309 A G exonic SUSD5 nonsynonymous SNV SUSD5:NM_015551:exon5:c.T815C:p.L272S 0.2 0.22 0.19 0.19 0.16 0.23 0.1751 0.2079 0.2101 0.2330 0.0995 0.1552 0.1682 0.2119 0.17 0.2 0.16 0.18 . rs61743461 COSM3760052 1(large_intestine) . . . . . . . . . . . 0.1 0.305 T 0.11 0.246 B 0.016 0.166 B 0.297 0.039 N 1 0.090 P 2.135 0.597 M 3.27 0.066 T -2.03 0.466 N 0.098 0.100 -0.937 0.431 T 0.000 0.000 T . . . -0.893 0.036 0.027 0.812 0.131 0.041 0.094 N c -0.964 -1.051 0.985 0.308 0.707 0.730 0 -2.95 0.052 0.008 0.130 0.237 0.263 0.057 0.215 0.212 0.220 6.670 0.221 . . . 0.1734 0.2031 0.2029 0.1584 0.2299 0.0989 0.1570 0.1664 0.2138 0.1621 0.1971 0.1814 0.17 0.2386 0.1054 0.1461 0.1527 het 763.64 88 3 33195309 . A G 763.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.117;DP=88;Dels=0.00;FS=5.831;HRun=0;HaplotypeScore=4.0057;MQ=59.36;MQ0=0;MQRankSum=0.131;QD=8.68;ReadPosRankSum=-1.447;VQSLOD=4.0184;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,35:88:99:794,0,1453 3 33255592 33255592 A G exonic SUSD5 nonsynonymous SNV SUSD5:NM_015551:exon2:c.T118C:p.F40L 0.95 0.99 0.93 0.99 0.85 0.97 0.8990 0.9698 0.9291 0.9977 0.9226 0.8559 0.8898 0.9509 0.89 0.97 0.86 0.96 . rs9637517 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.379 N 1.000 0.186 P -1.845 0.003 N 2.34 0.164 T 3.3 0.001 N 0.201 0.246 -0.972 0.367 T 0.000 0.000 T . . . 1.622 0.256 13.97 0.759 0.109 0.059 0.117 N c -0.865 -0.548 0.089 0.161 0.707 0.730 0 5.03 0.669 1.428 0.343 0.076 0.183 1.000 0.715 0.980 0.490 8.062 0.296 C-type lectin fold|C-type lectin-like|Link domain . . 0.8996 0.9693 0.9318 0.7917 0.9982 0.9270 0.8566 0.8776 0.9481 0.9131 0.9650 0.9189 0.8046 0.9963 0.9177 0.8753 0.9029 hom 2051.23 60 3 33255592 . A G 2051.23 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.19;VQSLOD=14.5177;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2084,163,0 3 33879770 33879770 G A exonic PDCD6IP nonsynonymous SNV PDCD6IP:NM_001162429:exon9:c.G1147A:p.V383I,PDCD6IP:NM_013374:exon9:c.G1132A:p.V378I 0.29 0.015 0.23 0.34 0.45 0.5 0.3795 0.0714 0.1556 0.3242 0.4909 0.4351 0.3888 0.4886 0.32 0.086 0.44 0.33 0.5 rs3203777 COSM149352 1(stomach);1(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.158 0.242 T 0.022 0.174 B 0.049 0.247 B 0.000 0.629 N 0.000 0.588 P 0.855 0.214 L 2.03 0.210 T -0.6 0.178 N 0.122 0.160 -0.908 0.471 T 0.000 0.000 T . . . 3.198 0.444 22.7 0.995 0.668 0.978 0.773 D c 0.045 0.230 1.000 0.747 0.707 0.730 0 4.92 0.640 5.655 0.674 0.897 0.411 1.000 0.715 0.993 0.574 11.606 0.501 BRO1 domain ENSG00000271643.1|ENSG00000271020.1|ENSG00000271643.1|ENSG00000271643.1|ENSG00000271324.1|ENSG00000170248.9 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.3746 0.0663 0.1638 0.2945 0.3279 0.4926 0.4403 0.3690 0.4863 0.3351 0.0764 0.2105 0.2819 0.3582 0.4859 0.4486 0.4531 hom 4665.02 170 3 33879770 . G A 4665.02 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3503;MQ=55.67;MQ0=0;QD=27.44;VQSLOD=3.5295;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:4664,364,0 3 35725250 35725250 C T exonic ARPP21 synonymous SNV ARPP21:NM_001267618:exon4:c.C204T:p.S68S,ARPP21:NM_001267619:exon4:c.C204T:p.S68S,ARPP21:NM_198399:exon4:c.C204T:p.S68S,ARPP21:NM_001025068:exon5:c.C204T:p.S68S,ARPP21:NM_001025069:exon5:c.C204T:p.S68S,ARPP21:NM_001267616:exon5:c.C204T:p.S68S,ARPP21:NM_001267617:exon5:c.C204T:p.S68S,ARPP21:NM_016300:exon5:c.C204T:p.S68S 0.72 0.87 0.56 0.65 0.62 0.79 0.6633 0.8409 0.5273 0.6540 0.5224 0.6435 0.6406 0.7822 0.71 0.84 0.65 0.77 0.56 rs969818 COSM4002660;COSM4002661;COSM4002662 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6409 0.8467 0.5089 0.7121 0.6432 0.5178 0.6334 0.6460 0.7749 0.6699 0.8396 0.5447 0.6854 0.6485 0.5270 0.6174 0.6061 het 391.96 38 3 35725250 . C T 391.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.286;DP=38;Dels=0.00;FS=2.835;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;MQRankSum=0.352;QD=10.31;ReadPosRankSum=-0.939;VQSLOD=5.3328;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,17:38:99:422,0,572 3 37033462 37033462 T G exonic EPM2AIP1 synonymous SNV EPM2AIP1:NM_014805:exon1:c.A1107C:p.T369T 0.0082 0.0015 0.0086 . 0.031 0.002 0.0282 0.0070 0.0106 0 0.0222 0.0439 0.0301 0.0070 0.036 0.0069 0.049 . . rs4647200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0271 0.0065 0.0114 0.0216 5.798e-05 0.0220 0.0454 0.0281 0.0084 0.0305 0.0086 0.0119 0.0199 0 0.0218 0.0494 0.0367 het 2848.28 249 3 37033462 . T G 2848.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.577;DP=249;DS;Dels=0.00;FS=0.465;HRun=1;HaplotypeScore=8.0842;MQ=58.76;MQ0=0;MQRankSum=0.137;QD=11.44;ReadPosRankSum=-0.132;VQSLOD=4.8290;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,116:249:99:2878,0,3580 3 37053568 37053568 A G exonic MLH1 nonsynonymous SNV MLH1:NM_000249:exon8:c.A655G:p.I219V,MLH1:NM_001167617:exon8:c.A361G:p.I121V,MLH1:NM_001258271:exon8:c.A655G:p.I219V 0.13 0.039 0.17 0.026 0.33 0.13 0.2325 0.0795 0.1501 0.0221 0.2859 0.3176 0.2163 0.1326 0.24 0.092 0.32 0.098 0.23 rs1799977 COSM1131469 1(bone);12(soft_tissue);5(prostate);7(large_intestine) Benign\x2cBenign|Benign|Benign|Benign|Benign Lynch_syndrome\x2cLynch_syndrome|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome_I RCV000075795.2\x2cRCV000030230.4|RCV000034548.1|RCV000035355.10|RCV000131385.3|RCV000144603.1 MedGen:Orphanet:SNOMED_CT\x2cMedGen:Orphanet:SNOMED_CT|MedGen|MedGen|MedGen:SNOMED_CT|MedGen:OMIM C1333990:ORPHA144:315058005\x2cC1333990:ORPHA144:315058005|CN221809|CN169374|C0027672:699346009|C2936783:120435 . . . . . . 0.338 0.128 T 0.018 0.165 B 0.028 0.267 B 0.000 0.629 D 0.000 0.810 P 1.03 0.257 L -1.74 0.834 D -0.46 0.150 N 0.291 0.559 -1.077 0.079 T 0.000 0.000 T . . . 1.609 0.255 13.90 0.987 0.438 0.802 0.396 D c -0.211 0.000 1.000 0.403 0.732 0.924 0 4.61 0.566 2.049 0.407 1.199 0.960 1.000 0.715 1.000 0.888 7.484 0.264 DNA mismatch repair protein\x2c C-terminal|Histidine kinase-like ATPase\x2c C-terminal domain|Ribosomal protein S5 domain 2-type fold|Ribosomal protein S5 domain 2-type fold\x2c subgroup;Histidine kinase-like ATPase\x2c C-terminal domain ENSG00000093167.13|ENSG00000093167.13|ENSG00000093167.13|ENSG00000272334.1|ENSG00000144674.12|ENSG00000093167.13|ENSG00000144674.12|ENSG00000076242.10|ENSG00000093167.13|ENSG00000093167.13|ENSG00000224080.1|ENSG00000093167.13 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2338 0.0743 0.1640 0.2898 0.0208 0.2904 0.3199 0.2519 0.1355 0.2281 0.0826 0.1643 0.2947 0.0197 0.3009 0.3179 0.2719 het 1690.91 127 3 37053568 . A G 1690.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.045;DP=127;Dels=0.00;FS=1.423;HRun=0;HaplotypeScore=2.4095;MQ=58.48;MQ0=0;MQRankSum=0.799;QD=13.31;ReadPosRankSum=-1.127;VQSLOD=5.9737;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,66:127:99:1721,0,1481 3 37366459 37366459 C A exonic GOLGA4 nonsynonymous SNV GOLGA4:NM_002078:exon14:c.C3082A:p.Q1028K,GOLGA4:NM_001172713:exon15:c.C3148A:p.Q1050K 0.2 0.14 0.3 0.076 0.36 0.16 0.3028 0.1797 0.3064 0.0595 0.3188 0.3811 0.2690 0.1807 0.32 0.19 0.39 0.21 0.3 rs11718848 COSM5021380 1(bone) . . . . . . . . . . . 0.007 0.614 D 0.993 0.637 D 0.915 0.633 D 0.004 0.345 N 0.000 0.810 P 2.57 0.754 M 1.66 0.278 T -1.59 0.435 N 0.146 0.172 -0.955 0.402 T 0.000 0.000 T . . . 4.196 0.562 23.9 0.993 0.592 0.947 0.616 D c 0.436 0.447 1.000 0.747 0.732 0.924 0 5.28 0.740 4.880 0.626 0.935 0.490 1.000 0.715 0.929 0.403 18.915 0.924 . ENSG00000093167.13|ENSG00000144674.12|ENSG00000093167.13|ENSG00000144674.12|ENSG00000076242.10|ENSG00000093167.13|ENSG00000093167.13|ENSG00000144674.12|ENSG00000093167.13|ENSG00000093167.13|ENSG00000144668.7 Artery_Aorta|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.3024 0.1756 0.3063 0.3152 0.0565 0.3209 0.3847 0.3174 0.1825 0.2952 0.1921 0.3019 0.3411 0.0545 0.3290 0.3705 0.3180 het 955.51 70 3 37366459 . C A 955.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.213;DP=70;Dels=0.00;FS=0.961;HRun=3;HaplotypeScore=0.9469;MQ=58.26;MQ0=0;MQRankSum=1.310;QD=13.65;ReadPosRankSum=0.558;VQSLOD=5.6007;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,34:70:99:986,0,957 3 37368755 37368755 T A exonic GOLGA4 nonsynonymous SNV GOLGA4:NM_002078:exon14:c.T5378A:p.M1793K,GOLGA4:NM_001172713:exon15:c.T5444A:p.M1815K 0.2 0.14 0.3 0.076 0.36 0.16 0.3033 0.1819 0.3064 0.0595 0.3201 0.3818 0.2694 0.1806 0.32 0.19 0.39 0.21 0.39 rs62241896 . . . . . . . . . . . . . 0.01 0.574 D 0.009 0.154 B 0.006 0.112 B 0.875 0.088 N 1 0.090 P 2.08 0.576 M 1.99 0.217 T -0.57 0.172 N 0.107 0.138 -0.920 0.456 T 0.000 0.000 T . . . -1.387 0.020 0.003 0.754 0.107 0.092 0.149 N c -1.151 -1.218 0.985 0.308 0.732 0.924 0 -1.3 0.087 0.048 0.139 0.116 0.208 0.025 0.199 0.237 0.225 3.351 0.067 . ENSG00000093167.13|ENSG00000144674.12|ENSG00000093167.13|ENSG00000144674.12|ENSG00000076242.10|ENSG00000093167.13|ENSG00000093167.13|ENSG00000144674.12|ENSG00000093167.13|ENSG00000093167.13|ENSG00000144668.7 Artery_Aorta|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.3043 0.1761 0.3083 0.3186 0.0569 0.3222 0.3865 0.3214 0.1847 0.2960 0.1940 0.3002 0.3411 0.0551 0.3304 0.3709 0.3194 het 1354.20 114 3 37368755 . T A 1354.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.038;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8782;MQ=59.67;MQ0=0;MQRankSum=0.581;QD=11.88;ReadPosRankSum=-0.360;VQSLOD=6.1695;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,56:114:99:1384,0,1466 3 37574951 37574951 G A exonic ITGA9 nonsynonymous SNV ITGA9:NM_002207:exon14:c.G1520A:p.G507E 0.56 0.45 0.68 0.8 0.54 0.38 0.5728 0.4682 0.7559 0.8079 0.5553 0.5730 0.5122 0.3970 0.54 0.47 0.58 0.59 0.54 rs267561 COSM3760058 1(pancreas);1(large_intestine) Benign not_specified RCV000454716.1 MedGen CN169374 . . . . . . 0.031 0.469 D 0.003 0.358 B 0.02 0.440 B 0.000 0.843 D 0.000 0.588 P 2.625 0.771 M 0.85 0.471 T -4.0 0.740 D 0.407 0.465 -1.034 0.191 T 0.000 0.000 T . . . 4.537 0.608 24.3 0.996 0.750 0.987 0.860 D c 0.309 0.413 1.000 0.747 0.554 0.246 0 5.86 0.939 7.878 0.855 1.048 0.713 1.000 0.715 0.951 0.427 20.186 0.982 Integrin alpha-2|Integrin domain ENSG00000144668.7 Brain_Cerebellum 0.5813 0.4633 0.7402 0.4977 0.8114 0.5687 0.5750 0.5617 0.4003 0.5517 0.4565 0.7045 0.5067 0.8290 0.5618 0.5697 0.5164 hom 3683.11 114 3 37574951 . G A 3683.11 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.25;MQ0=0;QD=32.31;VQSLOD=9.4861;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3683,292,0 3 37670679 37670679 G A exonic ITGA9 nonsynonymous SNV ITGA9:NM_002207:exon16:c.G1691A:p.R564Q 0.001 . 0.0014 . 0.003 0.001 0.0035 0.0008 0.0013 0 0.0002 0.0051 0.0022 0.0035 0.0048 0.0007 0.007 . . rs61751189 . . . . . . . . . . . . . 0.017 0.555 D 0.46 0.670 P 0.108 0.585 B 0.000 0.629 D 0.996 0.467 D 1.95 0.526 M 0.88 0.460 T -0.79 0.221 N 0.406 0.505 -0.842 0.526 T 0.156 0.488 T 0.029 0.518 D 7.346 0.949 34 0.999 0.999 0.693 0.339 D c 0.464 0.523 1.000 0.747 0.638 0.428 0 5.44 0.793 4.931 0.629 1.048 0.713 1.000 0.715 0.999 0.750 18.054 0.892 Integrin alpha-2|Integrin domain . . 0.0033 0.0006 0.0016 0.0001 0 0.0004 0.0056 0.0024 0.0034 0.0027 0.0008 0.0012 0 0 0.0009 0.0049 0.0010 het 2009.99 180 3 37670679 . G A 2009.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.847;DP=180;Dels=0.00;FS=0.559;HRun=0;HaplotypeScore=5.6070;MQ=59.31;MQ0=0;MQRankSum=1.858;QD=11.17;ReadPosRankSum=0.813;VQSLOD=4.1754;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,80:180:99:2040,0,2622 3 38080952 38080952 T G exonic DLEC1 nonsynonymous SNV DLEC1:NM_001321153:exon1:c.T236G:p.L79R,DLEC1:NM_007335:exon1:c.T236G:p.L79R,DLEC1:NM_007337:exon1:c.T236G:p.L79R 0.45 0.57 0.41 0.61 0.34 0.28 0.3706 0.5632 0.3952 0.5914 0.3705 0.3372 0.3386 0.2621 0.4 0.52 0.34 0.48 0.34 rs7625806 COSM446431;COSM446432 1(large_intestine) . . . . . . . . . . . 0.424 0.127 T 0.006 0.126 B 0.017 0.170 B 0.892 0.087 N 1 0.090 P 2.38 0.688 M 3.32 0.065 T -1.43 0.352 N 0.026 0.008 -0.982 0.346 T 0.000 0.000 T . . . 0.124 0.106 3.862 0.953 0.261 0.173 0.196 N c -1.273 -1.283 1.000 0.517 0.437 0.062 0 0.309 0.150 0.016 0.132 -0.822 0.031 0.086 0.223 0.030 0.147 2.353 0.040 . ENSG00000008226.15 Nerve_Tibial 0.3727 0.5584 0.4049 0.3498 0.6000 0.3668 0.3357 0.3573 0.2675 0.4165 0.5427 0.3866 0.3733 0.5993 0.3749 0.3399 0.3513 het 1049.77 109 3 38080952 . T G 1049.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.391;DP=109;Dels=0.00;FS=1.613;HRun=1;HaplotypeScore=0.9894;MQ=59.36;MQ0=0;MQRankSum=0.662;QD=9.63;ReadPosRankSum=0.231;VQSLOD=6.7580;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,45:109:99:1080,0,1954 3 38081031 38081031 A T exonic DLEC1 synonymous SNV DLEC1:NM_001321153:exon1:c.A315T:p.S105S,DLEC1:NM_007335:exon1:c.A315T:p.S105S,DLEC1:NM_007337:exon1:c.A315T:p.S105S 0.34 0.29 0.34 0.55 0.3 0.23 0.3161 0.3282 0.3569 0.5527 0.3525 0.2961 0.2764 0.2248 0.3 0.3 0.29 0.34 0.38 rs7616776 COSM3760061;COSM3760062 1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3206 0.3185 0.3683 0.2977 0.5585 0.3479 0.2929 0.2979 0.2279 0.3253 0.3109 0.3541 0.3233 0.5678 0.3577 0.3003 0.2953 het 2308.02 164 3 38081031 . A T 2308.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.586;DP=164;Dels=0.00;FS=2.772;HRun=0;HaplotypeScore=2.8125;MQ=58.85;MQ0=0;MQRankSum=0.244;QD=14.07;ReadPosRankSum=0.240;VQSLOD=5.9972;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,85:164:99:2338,0,2342 3 38151731 38151731 T C exonic DLEC1 synonymous SNV DLEC1:NM_001321153:exon23:c.T3411C:p.Y1137Y,DLEC1:NM_007335:exon23:c.T3402C:p.Y1134Y,DLEC1:NM_007337:exon23:c.T3402C:p.Y1134Y 0.46 0.57 0.45 0.61 0.36 0.25 0.3868 0.5610 0.4162 0.6162 0.3700 0.3601 0.3467 0.2602 0.42 0.53 0.37 0.51 0.43 rs12630114 COSM3760065;COSM3760066 1(bone);1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3886 0.5565 0.4215 0.3882 0.6185 0.3667 0.3585 0.3832 0.2662 0.4263 0.5336 0.4189 0.4338 0.6097 0.3721 0.3605 0.3730 het 4200.83 249 3 38151731 . T C 4200.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.670;DP=249;DS;Dels=0.00;FS=2.868;HRun=0;HaplotypeScore=8.8288;MQ=59.44;MQ0=0;MQRankSum=1.674;QD=16.87;ReadPosRankSum=-0.215;VQSLOD=3.8888;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,129:249:99:3547,0,3248 3 38170810 38170810 C G exonic ACAA1 nonsynonymous SNV ACAA1:NM_001607:exon6:c.G516C:p.E172D 0.14 0.025 0.13 0.32 0.14 0.091 0.1530 0.0448 0.1995 0.3607 0.1914 0.1492 0.1200 0.0818 0.11 0.047 0.15 0.11 0.21 rs156265 . . . . . . . . . . . . . 0.25 0.189 T 0.0 0.067 B 0.0 0.080 B 0.569 0.113 N 0.988 0.417 P -0.255 0.038 N -2.67 0.903 D -0.78 0.216 N 0.194 0.238 -0.926 0.447 T 0.000 0.000 T . . . 1.446 0.236 13.03 0.989 0.477 0.226 0.216 N c -0.525 -0.471 1.000 0.420 0.707 0.730 0 1.68 0.231 0.285 0.185 0.035 0.151 0.029 0.202 0.944 0.418 3.317 0.066 Thiolase\x2c N-terminal|Thiolase-like . . 0.1566 0.0425 0.1995 0.1483 0.3606 0.1851 0.1449 0.1407 0.0795 0.1382 0.0399 0.1778 0.1854 0.3660 0.1820 0.1572 0.1411 het 2437.94 188 3 38170810 . C G 2437.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.520;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8119;MQ=58.68;MQ0=0;MQRankSum=-0.466;QD=12.97;ReadPosRankSum=-0.158;VQSLOD=4.8570;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,95:188:99:2468,0,2408 3 38349147 38349150 TTTG - exonic SLC22A14 frameshift deletion SLC22A14:NM_004803:exon3:c.711_714del:p.L238Sfs*24,SLC22A14:NM_001320033:exon4:c.711_714del:p.L238Sfs*24 0.012 0.0008 0.011 . 0.029 0.024 0.0245 0.0056 0.0097 0 0.0174 0.0313 0.0319 0.0350 0.025 0.0066 0.035 . . rs138257211 COSM308426 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0235 0.0050 0.0100 0.0178 0 0.0172 0.0329 0.0248 0.0326 0.0189 0.0068 0.0095 0.0166 0 0.0192 0.0275 0.0337 het 4899.13 245 3 38349146 . ATTTG A 4899.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=11.320;DP=245;FS=6.414;HRun=0;HaplotypeScore=1154.2887;MQ=56.96;MQ0=0;MQRankSum=-1.726;QD=19.92;ReadPosRankSum=0.408;set=variant2 GT:AD:DP:GQ:PL 0/1:146,100:245:99:4899,0,10228 3 38350479 38350479 T C exonic SLC22A14 synonymous SNV SLC22A14:NM_004803:exon4:c.T810C:p.H270H,SLC22A14:NM_001320033:exon5:c.T810C:p.H270H 0.83 0.84 0.81 0.76 0.87 0.84 0.8493 0.8373 0.8102 0.7444 0.8638 0.8724 0.8753 0.8384 0.87 0.83 0.88 0.74 0.91 rs818819 COSM1179805 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8467 0.8358 0.8113 0.8295 0.7420 0.8569 0.8768 0.8485 0.8382 0.8511 0.8326 0.7936 0.8146 0.7327 0.8532 0.8776 0.8602 hom 7458.13 249 3 38350479 . T C 7458.13 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9025;MQ=59.42;MQ0=0;QD=29.95;VQSLOD=8.0006;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:249:99:7422,605,0 3 38350519 38350519 G A exonic SLC22A14 nonsynonymous SNV SLC22A14:NM_004803:exon4:c.G850A:p.V284M,SLC22A14:NM_001320033:exon5:c.G850A:p.V284M 0.83 0.84 0.81 0.76 0.87 0.84 0.8492 0.8374 0.8104 0.7432 0.8638 0.8723 0.8744 0.8384 0.87 0.83 0.88 0.74 0.91 rs818818 . . . . . . . . . . . . . 1.0 0.010 T 0.004 0.112 B 0.012 0.149 B 0.010 0.300 N 1 0.090 P -1.21 0.008 N -0.85 0.744 T 1.94 0.004 N 0.111 0.120 -0.895 0.485 T 0.000 0.000 T . . . -2.945 0.001 0.001 0.066 0.000 0.003 0.017 N c -2.607 -2.638 1.000 0.747 0.549 0.223 0 -10.0 0.004 -1.975 0.016 -1.602 0.009 0.000 0.063 0.000 0.016 2.159 0.036 Major facilitator superfamily domain . . 0.8466 0.8357 0.8111 0.8293 0.7414 0.8567 0.8767 0.8483 0.8382 0.8510 0.8323 0.7943 0.8146 0.7318 0.8532 0.8774 0.8605 hom 6279.36 190 3 38350519 . G A 6279.36 Mask AC=2;AF=1.00;AN=2;DP=190;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4913;MQ=59.59;MQ0=0;QD=33.05;VQSLOD=7.8259;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,189:190:99:6278,515,0 3 38350543 38350543 A G exonic SLC22A14 nonsynonymous SNV SLC22A14:NM_004803:exon4:c.A874G:p.S292G,SLC22A14:NM_001320033:exon5:c.A874G:p.S292G 0.84 0.89 0.81 0.76 0.86 0.84 0.8455 0.8804 0.8101 0.7436 0.8221 0.8636 0.8623 0.8370 0.87 0.87 0.88 0.79 0.89 rs818817 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.004 0.093 B 0.172 0.173 N 1 0.090 P 0.635 0.160 N 0.37 0.577 T 0.96 0.015 N 0.062 0.049 -1.022 0.231 T 0.000 0.000 T . . . -1.713 0.012 0.002 0.294 0.016 0.030 0.078 N c -1.406 -1.359 0.008 0.116 0.549 0.223 0 1.28 0.206 0.700 0.251 0.162 0.245 0.003 0.159 0.003 0.074 3.723 0.079 Major facilitator superfamily domain . . 0.8413 0.8793 0.8112 0.8268 0.7417 0.8157 0.8681 0.8414 0.8367 0.8539 0.8784 0.7895 0.8113 0.7336 0.8128 0.8672 0.8452 hom 6074.37 186 3 38350543 . A G 6074.37 Mask AC=2;AF=1.00;AN=2;DP=186;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6086;MQ=59.20;MQ0=0;QD=32.66;VQSLOD=7.2417;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:6073,496,0 3 38357961 38357961 C G exonic SLC22A14 nonsynonymous SNV SLC22A14:NM_004803:exon9:c.C1679G:p.P560R,SLC22A14:NM_001320033:exon10:c.C1679G:p.P560R 0.26 0.25 0.28 0.26 0.25 0.25 0.2725 0.2581 0.2989 0.2666 0.2455 0.2747 0.2744 0.2677 0.28 0.27 0.28 0.32 0.4 rs240033 COSM3760068 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.034 0.440 D 1.0 0.899 D 0.999 0.916 D 0.000 0.843 D 1.000 0.090 P . . . -1.32 0.798 T -7.54 0.951 D 0.235 0.406 -1.143 0.012 T 0.000 0.000 T . . . 3.331 0.459 22.9 0.989 0.479 0.688 0.337 D c -0.080 -0.294 0.039 0.144 0.500 0.196 0 2.39 0.284 2.712 0.466 -0.378 0.066 0.976 0.346 0.001 0.043 6.019 0.187 Major facilitator superfamily domain ENSG00000144671.6 Testis 0.2765 0.2637 0.2959 0.3850 0.2595 0.2525 0.2713 0.2720 0.2731 0.2662 0.2642 0.2871 0.4238 0.2550 0.2572 0.2675 0.2490 het 1206.77 95 3 38357961 . C G 1206.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.716;DP=95;Dels=0.00;FS=2.754;HRun=2;HaplotypeScore=3.8636;MQ=59.41;MQ0=0;MQRankSum=0.004;QD=12.70;ReadPosRankSum=-0.450;VQSLOD=5.7691;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,48:95:99:1237,0,1257 3 38401839 38401839 T C exonic XYLB synonymous SNV XYLB:NM_001349178:exon3:c.T150C:p.G50G,XYLB:NM_005108:exon3:c.T150C:p.G50G 0.96 0.87 0.98 1. 1. 1. 0.9895 0.8949 0.9923 1 1 0.9987 0.9945 0.9998 0.96 0.9 1. 0.98 0.98 rs818850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9908 0.8917 0.9901 0.9911 1 1.0000 0.9988 0.9898 0.9997 0.9673 0.8878 0.9916 0.9901 1 1 0.9986 0.9959 hom 6024.44 205 3 38401839 . T C 6024.44 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=59.20;MQ0=0;QD=29.39;VQSLOD=9.0239;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:6023,469,0 3 38404472 38404472 C A exonic XYLB nonsynonymous SNV XYLB:NM_001349178:exon4:c.C255A:p.D85E,XYLB:NM_005108:exon4:c.C255A:p.D85E 0.23 0.11 0.3 0.29 0.35 0.19 0.3012 0.1398 0.2655 0.2738 0.3338 0.3467 0.3221 0.2410 0.28 0.14 0.35 0.18 0.31 rs17118 COSM4157998 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.056 0.381 T 0.319 0.312 B 0.513 0.462 P 0.289 0.148 N 0.605 0.588 P 1.98 0.539 M 0.86 0.468 T -2.49 0.542 N 0.14 0.163 -0.972 0.368 T 0.000 0.000 T . . . 3.887 0.524 23.5 0.996 0.764 0.825 0.414 D c -0.100 -0.099 0.249 0.187 0.651 0.465 0 0.69 0.171 0.014 0.131 0.935 0.490 0.962 0.335 0.998 0.697 4.392 0.107 . . . 0.2898 0.1283 0.2434 0.3091 0.2558 0.3146 0.3390 0.2981 0.2200 0.2870 0.1422 0.2823 0.3079 0.3031 0.3247 0.3574 0.3368 het 2192.99 158 3 38404472 . C A 2192.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.227;DP=158;Dels=0.00;FS=0.618;HRun=1;HaplotypeScore=5.8077;MQ=59.18;MQ0=0;MQRankSum=0.090;QD=13.88;ReadPosRankSum=0.760;VQSLOD=5.2626;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,86:158:99:2223,0,1955 3 38406773 38406773 G T exonic XYLB synonymous SNV XYLB:NM_001349178:exon5:c.G375T:p.L125L,XYLB:NM_005108:exon5:c.G375T:p.L125L 0.9 0.7 0.94 1. 0.94 0.98 0.9360 0.7551 0.9606 1 0.9477 0.9437 0.9449 0.9626 0.88 0.76 0.94 0.85 0.9 rs704943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9391 0.7478 0.9546 0.9417 1 0.9464 0.9435 0.9375 0.9611 0.8918 0.7474 0.9511 0.9172 1 0.9476 0.9434 0.9491 hom 2952.80 93 3 38406773 . G T 2952.80 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.51;MQ0=0;QD=31.75;VQSLOD=8.4926;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2986,244,0 3 38408361 38408361 G A exonic XYLB synonymous SNV XYLB:NM_001349179:exon5:c.G159A:p.T53T,XYLB:NM_001349178:exon7:c.G570A:p.T190T,XYLB:NM_005108:exon7:c.G570A:p.T190T 0.9 0.71 0.94 1. 0.94 0.98 0.9367 0.7642 0.9604 1 0.9474 0.9437 0.9438 0.9626 0.88 0.77 0.94 0.85 0.93 rs843890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9396 0.7578 0.9546 0.9418 1 0.9463 0.9434 0.9370 0.9612 0.8936 0.7536 0.9511 0.9172 1 0.9482 0.9435 0.9501 hom 2571.78 82 3 38408361 . G A 2571.78 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8738;MQ=59.15;MQ0=0;QD=31.36;VQSLOD=8.7374;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2605,199,0 3 38519424 38519424 A G exonic ACVR2B synonymous SNV ACVR2B:NM_001106:exon3:c.A333G:p.E111E 0.48 0.31 0.49 0.44 0.62 0.6 0.5683 0.3511 0.5240 0.4680 0.5658 0.6206 0.5498 0.5783 0.52 0.35 0.61 0.47 0.57 rs2070489 COSM4158000;COSM4157999 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Heterotaxy_syndrome RCV000244045.1|RCV000299332.1 MedGen|MedGen CN169374|C3178805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5654 0.3447 0.5332 0.5595 0.4701 0.5585 0.6182 0.5619 0.5790 0.5277 0.3442 0.5346 0.5533 0.4658 0.5702 0.6259 0.5979 hom 5860.43 172 3 38519424 . A G 5860.43 Mask AC=2;AF=1.00;AN=2;DP=172;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3328;MQ=58.31;MQ0=0;QD=34.07;VQSLOD=7.7686;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5860,466,0 3 38524742 38524742 C T exonic ACVR2B synonymous SNV ACVR2B:NM_001106:exon11:c.C1458T:p.N486N 0.35 0.13 0.32 0.26 0.58 0.55 0.4851 0.1765 0.3227 0.2751 0.5376 0.5746 0.5 0.5194 0.44 0.18 0.57 0.26 0.48 rs1046048 . . Benign|Benign not_specified|Heterotaxy_syndrome RCV000253566.1|RCV000291591.1 MedGen|MedGen CN169374|C3178805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4785 0.1730 0.3320 0.5010 0.2695 0.5343 0.5719 0.4845 0.5199 0.4352 0.1770 0.3305 0.4934 0.2565 0.5468 0.5760 0.5502 het 2392.44 167 3 38524742 . C T 2392.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.682;DP=167;Dels=0.00;FS=1.311;HRun=0;HaplotypeScore=3.7383;MQ=59.22;MQ0=0;MQRankSum=0.842;QD=14.33;ReadPosRankSum=-1.136;VQSLOD=6.0808;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,84:167:99:2422,0,2077 3 38592406 38592406 A G exonic SCN5A synonymous SNV SCN5A:NM_001099405:exon27:c.T5403C:p.D1801D,SCN5A:NM_001160161:exon27:c.T5295C:p.D1765D,SCN5A:NM_000335:exon28:c.T5454C:p.D1818D,SCN5A:NM_001099404:exon28:c.T5457C:p.D1819D,SCN5A:NM_001160160:exon28:c.T5358C:p.D1786D,SCN5A:NM_198056:exon28:c.T5457C:p.D1819D 0.49 0.7 0.43 0.58 0.36 0.3 0.3878 0.6508 0.3916 0.5534 0.4433 0.3338 0.4180 0.3364 0.43 0.63 0.33 0.46 . rs1805126 COSM4158001;COSM4158003;COSM4158002 1(thyroid) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Brugada_syndrome|Romano-Ward_syndrome|Long_QT_syndrome|Dilated_Cardiomyopathy\x2c_Dominant|Paroxysmal_familial_ventricular_fibrillation|Sick_sinus_syndrome|Progressive_familial_heart_block RCV000041627.5|RCV000243623.1|RCV000286827.1|RCV000302171.1|RCV000335948.1|RCV000341786.1|RCV000347752.1|RCV000371957.1|RCV000390614.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT|MedGen:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet CN169374|CN230736|C1142166:ORPHA130:418818005|CN119492:20852007|C0023976:9651007|CN239310|C0340493:ORPHA228140:233915000|C0037052:ORPHA166282:36083008|CN206278:ORPHA871 Electrocardiographic conduction measures . -0.66 23463857 rs1805126 3E-20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3872 0.6551 0.3766 0.3401 0.5575 0.4431 0.3339 0.3999 0.3359 0.4472 0.6625 0.3765 0.3367 0.5580 0.4376 0.3240 0.3633 het 1910.23 137 3 38592406 . A G 1910.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.577;DP=137;Dels=0.00;FS=0.672;HRun=0;HaplotypeScore=2.5424;MQ=59.83;MQ0=0;MQRankSum=-1.217;QD=13.94;ReadPosRankSum=0.634;VQSLOD=6.0432;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,71:137:99:1940,0,1739 3 38622467 38622467 T C exonic SCN5A synonymous SNV SCN5A:NM_000335:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099404:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099405:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160160:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160161:exon17:c.A3183G:p.E1061E,SCN5A:NM_198056:exon17:c.A3183G:p.E1061E 0.92 0.87 0.92 1. 0.91 0.94 0.9128 0.8880 0.9542 0.9990 0.9254 0.8898 0.9195 0.9410 0.89 0.89 0.88 0.84 . rs7430407 COSM1485143;COSM1485142;COSM446444 1(thyroid) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Progressive_familial_heart_block|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Long_QT_syndrome|Dilated_Cardiomyopathy\x2c_Dominant|Brugada_syndrome|Romano-Ward_syndrome RCV000041613.5|RCV000244326.1|RCV000287183.1|RCV000307233.1|RCV000342149.1|RCV000347249.1|RCV000402957.1|RCV000403803.1|RCV000408429.1 MedGen|MedGen|MedGen:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|CN230736|CN206278:ORPHA871|C0037052:ORPHA166282:36083008|C0340493:ORPHA228140:233915000|C0023976:9651007|CN239310|C1142166:ORPHA130:418818005|CN119492:20852007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9140 0.8882 0.9447 0.8678 0.9992 0.9283 0.8897 0.9012 0.9399 0.9032 0.8836 0.9284 0.8742 0.9994 0.9242 0.8978 0.9155 hom 2084.06 65 3 38622467 . T C 2084.06 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8808;MQ=59.43;MQ0=0;QD=32.06;VQSLOD=9.2294;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2117,163,0 3 38674712 38674712 T C exonic SCN5A synonymous SNV SCN5A:NM_000335:exon2:c.A87G:p.A29A,SCN5A:NM_001099404:exon2:c.A87G:p.A29A,SCN5A:NM_001099405:exon2:c.A87G:p.A29A,SCN5A:NM_001160160:exon2:c.A87G:p.A29A,SCN5A:NM_001160161:exon2:c.A87G:p.A29A,SCN5A:NM_198056:exon2:c.A87G:p.A29A 0.78 0.92 0.72 0.67 0.79 0.75 0.7737 0.8941 0.7194 0.6902 0.6934 0.7906 0.7517 0.7485 0.84 0.9 0.81 0.86 . rs6599230 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Romano-Ward_syndrome|Sick_sinus_syndrome|Brugada_syndrome|Progressive_familial_heart_block|Paroxysmal_familial_ventricular_fibrillation|Dilated_Cardiomyopathy\x2c_Dominant|Long_QT_syndrome RCV000041640.9|RCV000249089.1|RCV000289272.1|RCV000292966.1|RCV000344291.1|RCV000347707.1|RCV000383571.1|RCV000387171.1|RCV000408022.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen|MedGen:SNOMED_CT CN169374|CN230736|CN119492:20852007|C0037052:ORPHA166282:36083008|C1142166:ORPHA130:418818005|CN206278:ORPHA871|C0340493:ORPHA228140:233915000|CN239310|C0023976:9651007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7655 0.8977 0.7155 0.7483 0.6899 0.6952 0.7949 0.7468 0.7495 0.7947 0.8943 0.7255 0.7417 0.7012 0.6997 0.7774 0.7398 hom 1408.76 42 3 38674712 . T C 1408.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.650;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=0.248;QD=33.54;ReadPosRankSum=1.650;VQSLOD=9.0126;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,41:42:99:1442,117,0 3 38739574 38739574 T C exonic SCN10A nonsynonymous SNV SCN10A:NM_001293307:exon26:c.A4843G:p.M1615V,SCN10A:NM_001293306:exon27:c.A5134G:p.M1712V,SCN10A:NM_006514:exon27:c.A5137G:p.M1713V 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs6599241 COSM4590396 23(upper_aerodigestive_tract) Benign not_specified RCV000254499.2 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.986 0.247 P -2.12 0.002 N -4.81 0.982 D 2.78 0.002 N 0.309 0.370 -0.898 0.482 T 0.000 0.000 T . . . 0.227 0.116 4.957 0.457 0.036 0.235 0.219 N c -0.691 -0.345 1.000 0.517 0.487 0.133 0 5.38 0.772 6.180 0.717 0.069 0.176 1.000 0.715 0.999 0.750 14.472 0.670 Ion transport domain . . 1.0000 1 1 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 6941.52 235 3 38739574 . T C 6941.52 Mask AC=2;AF=1.00;AN=2;DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.55;MQ0=0;QD=29.54;VQSLOD=9.0348;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,235:235:99:6940,563,0 3 38739845 38739845 A G exonic SCN10A synonymous SNV SCN10A:NM_001293307:exon26:c.T4572C:p.S1524S,SCN10A:NM_001293306:exon27:c.T4863C:p.S1621S,SCN10A:NM_006514:exon27:c.T4866C:p.S1622S 0.92 0.97 0.91 0.95 0.91 0.86 0.9199 0.9606 0.9185 0.9703 0.9342 0.9180 0.9306 0.8703 0.93 0.96 0.92 0.95 0.93 rs6599242 . . Benign not_specified RCV000248921.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9195 0.9601 0.9144 0.9422 0.9700 0.9335 0.9162 0.9211 0.8712 0.9325 0.9633 0.9091 0.9267 0.9685 0.9356 0.9122 0.9196 het 4398.62 246 3 38739845 . A G 4398.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.317;DP=246;DS;Dels=0.00;FS=2.161;HRun=1;HaplotypeScore=6.9679;MQ=59.41;MQ0=0;MQRankSum=1.996;QD=17.88;ReadPosRankSum=-0.974;VQSLOD=3.4951;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,126:246:99:3739,0,3381 3 38763863 38763863 G C exonic SCN10A synonymous SNV SCN10A:NM_001293307:exon18:c.C3099G:p.T1033T,SCN10A:NM_001293306:exon19:c.C3390G:p.T1130T,SCN10A:NM_006514:exon19:c.C3393G:p.T1131T 0.22 0.12 0.12 0.38 0.25 0.23 0.2430 0.1359 0.1096 0.3905 0.2743 0.2636 0.2632 0.2301 0.22 0.14 0.26 0.23 0.26 rs6771157 COSM3760069 1(bone);1(large_intestine) Benign not_specified RCV000244131.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2394 0.1322 0.1137 0.3353 0.3895 0.2712 0.2571 0.2440 0.2271 0.2341 0.1394 0.1232 0.3079 0.4056 0.2573 0.2677 0.2648 het 3159.66 250 3 38763863 . G C 3159.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.541;DP=250;DS;Dels=0.00;FS=4.282;HRun=0;HaplotypeScore=4.0376;MQ=59.45;MQ0=0;MQRankSum=-0.202;QD=12.64;ReadPosRankSum=-1.631;VQSLOD=5.0662;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:120,129:250:99:3190,0,3433 3 38766675 38766675 A G exonic SCN10A nonsynonymous SNV SCN10A:NM_001293307:exon16:c.T2924C:p.V975A,SCN10A:NM_001293306:exon17:c.T3215C:p.V1072A,SCN10A:NM_006514:exon17:c.T3218C:p.V1073A 0.76 0.95 0.64 0.82 0.59 0.69 0.6586 0.9072 0.6796 0.8436 0.5514 0.6036 0.6264 0.6564 0.7 0.9 0.6 0.85 0.57 rs6795970 . . Benign not_specified RCV000249220.2 MedGen CN169374 Electrocardiographic traits . -5.17 20062063 rs6795970 4E-9 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P 0.55 0.145 N -3.69 0.953 D 0.51 0.029 N 0.004 0.003 -0.912 0.467 T 0.000 0.000 T . . . -0.943 0.034 0.021 0.538 0.049 0.003 0.017 N c -1.612 -1.642 1.000 0.517 0.487 0.133 0 -4.56 0.032 -1.044 0.036 -0.733 0.036 0.000 0.063 0.010 0.111 0.783 0.010 Sodium ion transport-associated . . 0.6508 0.9122 0.6879 0.5802 0.8484 0.5494 0.6030 0.6201 0.6449 0.7048 0.9093 0.6957 0.6192 0.8673 0.5289 0.6167 0.6237 hom 2384.05 80 3 38766675 . A G 2384.05 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.9117;MQ=59.42;MQ0=0;QD=29.80;VQSLOD=8.7998;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:80:99:2417,187,0 3 38766701 38766701 C T exonic SCN10A synonymous SNV SCN10A:NM_001293307:exon16:c.G2898A:p.T966T,SCN10A:NM_001293306:exon17:c.G3189A:p.T1063T,SCN10A:NM_006514:exon17:c.G3192A:p.T1064T 0.12 0.2 0.14 0.002 0.13 0.089 0.1256 0.2073 0.1187 0.0007 0.1107 0.1411 0.1109 0.0883 0.16 0.2 0.14 0.12 0.14 rs6791171 COSM5021387 1(bone) Benign not_specified RCV000243642.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1217 0.2041 0.1224 0.0869 0.0005 0.1068 0.1448 0.1180 0.0863 0.1534 0.2130 0.1444 0.1093 0.0006 0.0999 0.1510 0.1235 het 978.74 72 3 38766701 . C T 978.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.797;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.407;QD=13.59;ReadPosRankSum=-0.068;VQSLOD=12.3940;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,39:72:99:1009,0,771 3 38768247 38768247 G A exonic SCN10A synonymous SNV SCN10A:NM_001293307:exon15:c.C2643T:p.G881G,SCN10A:NM_001293306:exon16:c.C2937T:p.G979G,SCN10A:NM_006514:exon16:c.C2937T:p.G979G 0.19 0.015 0.11 0.37 0.25 0.23 0.2350 0.0452 0.1043 0.3922 0.2736 0.2635 0.2539 0.2315 0.19 0.051 0.26 0.21 0.26 rs59468016 COSM3760071 1(large_intestine) Benign not_specified RCV000251852.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2328 0.0412 0.1073 0.3350 0.3893 0.2700 0.2571 0.2382 0.2290 0.2070 0.0493 0.1181 0.2947 0.4061 0.2547 0.2661 0.2572 het 1506.91 121 3 38768247 . G A 1506.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.821;DP=121;Dels=0.00;FS=0.698;HRun=0;HaplotypeScore=2.4938;MQ=58.88;MQ0=0;MQRankSum=0.533;QD=12.45;ReadPosRankSum=0.685;VQSLOD=6.2990;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,58:121:99:1537,0,1458 3 38768300 38768300 T C exonic SCN10A nonsynonymous SNV SCN10A:NM_001293307:exon15:c.A2590G:p.I864V,SCN10A:NM_001293306:exon16:c.A2884G:p.I962V,SCN10A:NM_006514:exon16:c.A2884G:p.I962V 0.21 0.086 0.12 0.37 0.25 0.23 0.2409 0.1082 0.1068 0.3919 0.2734 0.2642 0.2550 0.2318 0.21 0.11 0.26 0.22 0.26 rs57326399 COSM1131456 1(pancreas);1(prostate);4(large_intestine);1(biliary_tract) Benign not_specified RCV000247107.2 MedGen CN169374 . . . . . . 0.117 0.282 T 0.437 0.340 B 0.17 0.336 B 0.000 0.004 N 1 0.090 P 0.87 0.215 L -1.77 0.837 D 0.18 0.050 N 0.05 0.031 -1.095 0.048 T 0.000 0.000 T . . . -1.544 0.016 0.002 0.344 0.021 0.064 0.122 N c -1.324 -1.404 1.000 0.747 0.526 0.212 0 -4.17 0.036 0.434 0.211 -0.205 0.101 0.001 0.137 0.965 0.450 6.362 0.205 Sodium ion transport-associated . . 0.2373 0.1021 0.1103 0.3373 0.3890 0.2701 0.2575 0.2402 0.2290 0.2240 0.1092 0.1205 0.2947 0.4057 0.2547 0.2662 0.2597 het 1659.38 113 3 38768300 . T C 1659.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.226;DP=113;Dels=0.00;FS=3.478;HRun=0;HaplotypeScore=0.9983;MQ=58.93;MQ0=0;MQRankSum=0.216;QD=14.68;ReadPosRankSum=-0.089;VQSLOD=5.5919;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,62:113:99:1689,0,1402 3 38793989 38793989 G A exonic SCN10A synonymous SNV SCN10A:NM_001293306:exon11:c.C1476T:p.L492L,SCN10A:NM_006514:exon11:c.C1476T:p.L492L 0.21 0.079 0.11 0.37 0.25 0.24 0.2430 0.1118 0.1022 0.4016 0.2684 0.2599 0.2603 0.2592 0.2 0.11 0.25 0.25 0.26 rs7617919 COSM3760072 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000251351.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2328 0.1002 0.1051 0.3329 0.3907 0.2613 0.2507 0.2344 0.2314 0.2179 0.1063 0.1184 0.2914 0.4068 0.2454 0.2585 0.2469 het 462.62 45 3 38793989 . G A 462.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.283;DP=45;Dels=0.00;FS=10.170;HRun=1;HaplotypeScore=0.7887;MQ=59.17;MQ0=0;MQRankSum=1.487;QD=10.28;ReadPosRankSum=-1.416;VQSLOD=4.1883;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,17:45:99:493,0,737 3 38798171 38798171 C T exonic SCN10A synonymous SNV SCN10A:NM_001293306:exon9:c.G1284A:p.E428E,SCN10A:NM_001293307:exon9:c.G1284A:p.E428E,SCN10A:NM_006514:exon9:c.G1284A:p.E428E 0.21 0.079 0.11 0.37 0.25 0.24 0.2344 0.1052 0.1011 0.3974 0.2622 0.2542 0.2456 0.2319 0.2 0.11 0.25 0.25 0.25 rs62244070 COSM4158017 1(breast);1(thyroid) Benign not_specified RCV000246606.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2305 0.1000 0.1050 0.3298 0.3918 0.2586 0.2474 0.2307 0.2287 0.2167 0.1055 0.1158 0.2914 0.4045 0.2448 0.2567 0.2469 het 2747.96 213 3 38798171 . C T 2747.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.566;DP=213;Dels=0.00;FS=5.920;HRun=1;HaplotypeScore=2.7220;MQ=59.13;MQ0=0;MQRankSum=1.857;QD=12.90;ReadPosRankSum=1.512;VQSLOD=4.0108;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,110:213:99:2778,0,2828 3 38945560 38945560 A G exonic SCN11A synonymous SNV SCN11A:NM_014139:exon12:c.T1638C:p.C546C,SCN11A:NM_001349253:exon16:c.T1638C:p.C546C 0.61 0.49 0.69 0.64 0.65 0.67 0.6515 0.5021 0.7089 0.6340 0.6778 0.6589 0.5888 0.6798 0.61 0.52 0.65 0.54 0.63 rs4073113 COSM4002675 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000254125.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6511 0.5060 0.7036 0.5697 0.6277 0.6747 0.6598 0.6361 0.6631 0.6042 0.4978 0.6806 0.5795 0.5996 0.6621 0.6480 0.6260 hom 3233.06 96 3 38945560 . A G 3233.06 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.68;VQSLOD=14.2746;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3266,256,0 3 39180099 39180099 T C exonic TTC21A synonymous SNV TTC21A:NM_001105513:exon27:c.T3726C:p.I1242I,TTC21A:NM_145755:exon28:c.T3870C:p.I1290I 0.71 0.52 0.74 0.77 0.77 0.81 0.7502 0.5769 0.7563 0.7714 0.7903 0.7579 0.7189 0.7920 0.7 0.61 0.75 0.6 0.74 rs784498 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7527 0.5718 0.7578 0.7118 0.7642 0.7943 0.7588 0.7451 0.7925 0.7058 0.5929 0.7601 0.7318 0.7460 0.7815 0.7444 0.7271 hom 5282.27 188 3 39180099 . T C 5282.27 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.677;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7318;MQ=59.25;MQ0=0;MQRankSum=1.087;QD=28.10;ReadPosRankSum=-1.529;VQSLOD=7.7803;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,187:188:99:5281,427,0 3 39180263 39180263 G A exonic TTC21A nonsynonymous SNV TTC21A:NM_001105513:exon28:c.G3803A:p.R1268K,TTC21A:NM_145755:exon29:c.G3947A:p.R1316K 0.55 0.16 0.66 0.73 0.67 0.69 0.6450 0.2371 0.6982 0.7464 0.6952 0.6701 0.6217 0.6751 0.54 0.26 0.66 0.4 0.59 rs704959 . . . . . . . . . . . . . 0.612 0.059 T 0.0 0.026 B 0.001 0.063 B 0.007 0.316 N 0.999 0.222 P 0.46 0.130 N 0.2 0.601 T -0.06 0.079 N 0.025 0.012 -0.924 0.451 T 0.000 0.000 T . . . 1.705 0.266 14.44 0.957 0.270 0.732 0.355 D c -0.478 -0.275 1.000 0.747 0.660 0.495 0 4.41 0.524 1.096 0.304 0.142 0.226 0.941 0.324 0.981 0.494 4.388 0.107 Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain ENSG00000168026.12|ENSG00000168026.12|ENSG00000114742.9|ENSG00000168026.12|ENSG00000168026.12|ENSG00000168026.12 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid 0.6492 0.2275 0.6932 0.6199 0.7418 0.6881 0.6679 0.6421 0.6731 0.5390 0.2321 0.6782 0.6225 0.7277 0.6766 0.6501 0.6232 hom 1892.82 59 3 39180263 . G A 1892.82 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.08;VQSLOD=14.0627;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1926,150,0 3 39184959 39184959 C T exonic CSRNP1 nonsynonymous SNV CSRNP1:NM_001320559:exon5:c.G1417A:p.V473I,CSRNP1:NM_001320560:exon5:c.G1357A:p.V453I,CSRNP1:NM_033027:exon5:c.G1357A:p.V453I 0.78 0.8 0.77 0.77 0.77 0.81 0.7698 0.7933 0.7688 0.7674 0.7892 0.7594 0.7351 0.7928 0.77 0.81 0.75 0.71 0.74 rs1274958 COSM4158020 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.043 0.238 N 1 0.090 P -1.11 0.010 N 1.03 0.405 T -0.18 0.098 N 0.014 0.002 -0.985 0.339 T 0.000 0.000 T . . . 0.084 0.102 3.442 0.567 0.055 0.092 0.148 N c -1.409 -1.254 1.000 0.747 0.672 0.522 0 0.7 0.172 0.260 0.181 0.154 0.240 0.115 0.229 0.961 0.442 4.341 0.105 . ENSG00000168026.12|ENSG00000168026.12|ENSG00000114742.9|ENSG00000168026.12|ENSG00000168026.12|ENSG00000168026.12|ENSG00000168026.12 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Pancreas|Testis|Thyroid 0.7696 0.7966 0.7708 0.7165 0.7624 0.7939 0.7604 0.7579 0.7936 0.7626 0.7898 0.7709 0.7450 0.7485 0.7815 0.7454 0.7393 hom 2939.44 91 3 39184959 . C T 2939.44 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9739;MQ=59.49;MQ0=0;QD=32.30;VQSLOD=9.4661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2972,244,0 3 39185077 39185077 G A exonic CSRNP1 synonymous SNV CSRNP1:NM_001320559:exon5:c.C1299T:p.S433S,CSRNP1:NM_001320560:exon5:c.C1239T:p.S413S,CSRNP1:NM_033027:exon5:c.C1239T:p.S413S 0.49 0.12 0.62 0.57 0.66 0.65 0.6099 0.1840 0.6368 0.6000 0.6882 0.6570 0.5993 0.6416 0.5 0.2 0.65 0.36 0.61 rs1274957 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6172 0.1788 0.6405 0.6171 0.5909 0.6817 0.6551 0.6208 0.6402 0.5094 0.1914 0.6208 0.61 0.5627 0.6675 0.6382 0.6047 hom 3982.72 134 3 39185077 . G A 3982.72 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.388;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5876;MQ=59.52;MQ0=0;MQRankSum=-1.600;QD=29.72;ReadPosRankSum=-1.573;VQSLOD=6.8211;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,130:134:99:3943,295,0 3 39185248 39185248 A G exonic CSRNP1 synonymous SNV CSRNP1:NM_001320559:exon5:c.T1128C:p.S376S,CSRNP1:NM_001320560:exon5:c.T1068C:p.S356S,CSRNP1:NM_033027:exon5:c.T1068C:p.S356S 0.91 0.93 0.94 0.89 0.89 0.89 0.8847 0.9265 0.9548 0.8968 0.8481 0.8688 0.8742 0.8821 0.89 0.93 0.87 0.9 0.85 rs784519 COSM4158021 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8864 0.9285 0.9520 0.8355 0.8969 0.8507 0.8722 0.8869 0.8814 0.8794 0.9288 0.9344 0.8576 0.9006 0.8452 0.8559 0.8452 hom 2550.17 75 3 39185248 . A G 2550.17 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.00;VQSLOD=14.2082;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2583,199,0 3 39186728 39186728 C T exonic CSRNP1 synonymous SNV CSRNP1:NM_001320559:exon3:c.G285A:p.R95R,CSRNP1:NM_001320560:exon3:c.G225A:p.R75R,CSRNP1:NM_033027:exon3:c.G225A:p.R75R 0.46 0.12 0.59 0.56 0.58 0.6 0.5603 0.1820 0.6117 0.5872 0.6426 0.5852 0.5554 0.6147 0.44 0.2 0.56 0.36 0.45 rs784517 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5635 0.1732 0.6142 0.5234 0.5786 0.6399 0.5796 0.5674 0.5945 0.4684 0.1823 0.6094 0.5232 0.5569 0.6344 0.5712 0.5697 het 916.38 59 3 39186728 . C T 916.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.063;DP=59;Dels=0.00;FS=12.530;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.130;QD=15.53;ReadPosRankSum=0.790;VQSLOD=3.3917;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,34:59:99:946,0,621 3 39226127 39226127 C T exonic XIRP1 nonsynonymous SNV XIRP1:NM_001351377:exon2:c.G859A:p.G287R,XIRP1:NM_194293:exon2:c.G4810A:p.G1604R 0.13 0.012 0.14 0.14 0.22 0.18 0.1975 0.0444 0.1456 0.1509 0.2422 0.2306 0.1927 0.2035 0.16 0.047 0.22 0.11 0.2 rs3732383 COSM4002679 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.755 0.035 T 0.003 0.102 B 0.001 0.040 B 0.160 0.030 N 1 0.090 P -0.29 0.037 N 4.1 0.155 T 0.95 0.039 N 0.029 0.018 -0.966 0.380 T 0.000 0.000 T . . . -0.376 0.063 0.441 0.522 0.046 0.029 0.077 N c -1.389 -1.365 1.000 0.747 0.534 0.214 0 0.238 0.147 0.815 0.267 -1.155 0.017 0.001 0.137 0.000 0.016 6.942 0.235 . . . 0.1952 0.0418 0.1397 0.2075 0.1473 0.2353 0.2295 0.1878 0.2027 0.1776 0.0440 0.1459 0.1987 0.1483 0.2456 0.2402 0.2383 het 4130.62 250 3 39226127 . C T 4130.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.024;DP=250;DS;Dels=0.00;FS=0.466;HRun=0;HaplotypeScore=6.7347;MQ=59.51;MQ0=0;MQRankSum=2.652;QD=16.52;ReadPosRankSum=-1.622;VQSLOD=2.9914;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:129,121:250:99:3465,0,3438 3 39227664 39227664 G A exonic XIRP1 synonymous SNV XIRP1:NM_001198621:exon2:c.C3273T:p.D1091D,XIRP1:NM_194293:exon2:c.C3273T:p.D1091D 0.1 0.0091 0.1 0.061 0.2 0.16 0.1677 0.0395 0.0732 0.0647 0.2343 0.2097 0.1737 0.1713 0.15 0.042 0.2 0.076 0.2 rs61736155 COSM4406975 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1642 0.0367 0.0752 0.1988 0.0624 0.2266 0.2062 0.1657 0.1726 0.1574 0.0383 0.0883 0.1821 0.0605 0.2320 0.2199 0.2118 het 1241.87 96 3 39227664 . G A 1241.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.555;DP=96;Dels=0.00;FS=2.854;HRun=0;HaplotypeScore=1.4725;MQ=57.72;MQ0=0;MQRankSum=0.115;QD=12.94;ReadPosRankSum=-0.078;VQSLOD=4.3794;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,47:96:99:1272,0,1163 3 39228043 39228043 T G exonic XIRP1 nonsynonymous SNV XIRP1:NM_001198621:exon2:c.A2894C:p.H965P,XIRP1:NM_194293:exon2:c.A2894C:p.H965P 0.1 0.0091 0.1 0.061 0.2 0.16 0.1696 0.0387 0.0736 0.0649 0.2353 0.2128 0.1771 0.1732 0.14 0.039 0.19 0.076 0.17 rs11711871 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.135 0.185 N 1 0.090 P -2.6 0.000 N 3.66 0.043 T 1.1 0.013 N 0.059 0.065 -0.951 0.409 T 0.000 0.000 T . . . -1.893 0.009 0.002 0.147 0.003 0.012 0.042 N c -1.279 -1.096 1.000 0.404 0.554 0.246 0 3.2 0.357 0.228 0.175 0.136 0.221 0.000 0.063 0.167 0.209 4.125 0.095 . . . 0.1658 0.0370 0.0758 0.1987 0.0624 0.2270 0.2097 0.1670 0.1738 0.1590 0.0389 0.0907 0.1821 0.0606 0.2325 0.2226 0.2121 het 1270.61 109 3 39228043 . T G 1270.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.120;DP=109;Dels=0.00;FS=3.651;HRun=3;HaplotypeScore=1.6609;MQ=58.81;MQ0=0;MQRankSum=1.112;QD=11.66;ReadPosRankSum=0.422;VQSLOD=5.4665;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,47:109:99:1301,0,1592 3 39229900 39229900 T C exonic XIRP1 nonsynonymous SNV XIRP1:NM_001198621:exon2:c.A1037G:p.Q346R,XIRP1:NM_194293:exon2:c.A1037G:p.Q346R 0.99 0.98 1. 1. 1. 1. 0.9983 0.9813 0.9991 1 1 0.9999 0.9978 0.9999 0.99 0.98 1. 0.99 0.95 rs6805248 . . . . . . . . . . . . . 0.93 0.022 T 0.0 0.026 B 0.0 0.013 B 0.018 0.277 N 1 0.392 P -0.895 0.014 N 3.73 0.040 T 1.38 0.009 N 0.045 0.041 -0.988 0.331 T 0.000 0.000 T . . . -0.587 0.051 0.135 0.445 0.034 0.093 0.149 N c -0.797 -0.558 0.999 0.392 0.554 0.246 0 3.06 0.342 1.605 0.362 0.069 0.176 0.926 0.319 0.994 0.587 7.667 0.274 . . . 0.9988 0.9829 0.9994 1 1 1 1.0000 0.9991 0.9999 0.9955 0.9841 0.9988 1 1 1 1 1 hom 5808.63 193 3 39229900 . T C 5808.63 Mask AC=2;AF=1.00;AN=2;DP=193;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6482;MQ=59.01;MQ0=0;QD=30.10;VQSLOD=8.5036;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,193:193:99:5807,487,0 3 39323163 39323163 A C exonic CX3CR1 nonsynonymous SNV CX3CR1:NM_001171174:exon1:c.T24G:p.F8L 0.42 0.17 0.49 0.69 0.41 0.46 0.4235 0.2177 0.5087 0.6896 0.4417 0.3941 0.4439 0.4486 0.33 0.2 0.39 0.37 . rs11715522 COSM4158022 1(thyroid) . . . . . . . . . . . 0.861 0.027 T . . . . . . . . . 1 0.090 P . . . -0.06 0.636 T -0.04 0.076 N 0.037 0.017 -0.957 0.397 T 0.000 0.000 T . . . -0.149 0.080 1.391 0.658 0.076 0.004 0.021 N c -0.957 -1.161 1.000 0.427 0.487 0.133 0 -2.35 0.063 -1.126 0.033 -0.241 0.092 0.000 0.063 0.000 0.016 4.902 0.130 . ENSG00000168028.9|ENSG00000168028.9|ENSG00000168028.9|ENSG00000168028.9|ENSG00000168329.9|ENSG00000168028.9|ENSG00000168028.9 Adipose_Visceral_Omentum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Lung|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.4201 0.2059 0.4934 0.3465 0.6778 0.4403 0.3864 0.4194 0.4354 0.3599 0.2162 0.4714 0.3933 0.6658 0.4493 0.3796 0.4059 het 485.04 24 3 39323163 . A C 485.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.664;DP=24;Dels=0.00;FS=1.893;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=1.255;QD=20.21;ReadPosRankSum=1.378;VQSLOD=4.3356;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,16:24:99:515,0,150 3 39373902 39373902 C G exonic CCR8 nonsynonymous SNV CCR8:NM_005201:exon2:c.C80G:p.A27G 0.13 0.1 0.16 0.002 0.3 0.1 0.2154 0.1359 0.1125 0.0010 0.2510 0.2910 0.1949 0.1316 0.25 0.14 0.3 0.17 0.29 rs2853699 COSM3736318 1(pancreas);1(skin);1(large_intestine) . . . . . . . . . . . 0.196 0.207 T 0.0 0.026 B 0.001 0.040 B 0.141 0.029 N 1 0.090 P 0 0.065 N 2.09 0.201 T 0.01 0.069 N 0.019 0.012 -1.034 0.193 T 0.000 0.000 T . . . -0.721 0.044 0.064 0.603 0.063 0.025 0.069 N c -1.605 -1.620 1.000 0.451 0.615 0.372 0 -3.17 0.049 -0.915 0.041 -1.712 0.008 0.000 0.063 0.005 0.090 2.32 0.039 . ENSG00000179934.5|ENSG00000228168.1 Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes 0.2133 0.1275 0.1219 0.2286 0.0008 0.2426 0.2993 0.2283 0.1346 0.2303 0.1394 0.1471 0.2086 0.0012 0.2476 0.3067 0.2663 het 2044.23 171 3 39373902 . C G 2044.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.750;DP=171;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;MQRankSum=0.355;QD=11.95;ReadPosRankSum=-1.002;VQSLOD=6.1548;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:94,77:171:99:2074,0,2367 3 39431081 39431081 G A exonic SLC25A38 synonymous SNV SLC25A38:NM_017875:exon2:c.G165A:p.L55L 0.42 0.083 0.5 0.61 0.51 0.51 0.4820 0.1337 0.5625 0.6216 0.5691 0.4935 0.5033 0.4893 0.37 0.14 0.48 0.32 0.39 rs2270770 COSM5618913 1(breast) Benign|Benign|Benign not_specified|Hereditary_sideroblastic_anemia|Refractory_anemia_with_ringed_sideroblasts_(clinical) RCV000286235.2|RCV000317815.1|RCV000372560.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|C0221018:300751:ORPHA75563:62677000|C1264195:109998009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4931 0.1299 0.5577 0.4236 0.6202 0.5786 0.4953 0.4876 0.4853 0.4162 0.1398 0.5322 0.4470 0.5975 0.5811 0.5053 0.5143 het 1725.96 144 3 39431081 . G A 1725.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.976;DP=144;Dels=0.00;FS=0.624;HRun=0;HaplotypeScore=4.3368;MQ=58.12;MQ0=0;MQRankSum=1.508;QD=11.99;ReadPosRankSum=0.474;VQSLOD=5.0220;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,72:144:99:1756,0,1890 3 40231883 40231883 C T exonic MYRIP synonymous SNV MYRIP:NM_001284426:exon8:c.C1033T:p.L345L,MYRIP:NM_001284425:exon9:c.C1327T:p.L443L,MYRIP:NM_001284423:exon10:c.C1594T:p.L532L,MYRIP:NM_001284424:exon10:c.C1594T:p.L532L,MYRIP:NM_015460:exon10:c.C1594T:p.L532L 0.83 0.75 0.92 0.8 0.9 0.84 0.8845 0.7657 0.9142 0.8009 0.9189 0.9108 0.9192 0.8602 0.86 0.77 0.9 0.79 0.61 rs1317317 COSM4005538 1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8883 0.7600 0.9168 0.8917 0.8082 0.9205 0.9095 0.8906 0.8641 0.8637 0.7653 0.9111 0.8874 0.8109 0.9196 0.9085 0.8931 hom 1916.29 60 3 40231883 . C T 1916.29 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6889;MQ=58.08;MQ0=1;QD=31.94;VQSLOD=7.3753;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1949,159,0 3 40286017 40286017 T C exonic MYRIP synonymous SNV MYRIP:NM_001284426:exon11:c.T1620C:p.S540S,MYRIP:NM_001284424:exon12:c.T1986C:p.S662S,MYRIP:NM_001284425:exon12:c.T1914C:p.S638S,MYRIP:NM_001284423:exon13:c.T2181C:p.S727S,MYRIP:NM_015460:exon13:c.T2181C:p.S727S 0.65 0.8 0.47 0.76 0.43 0.69 0.5204 0.7489 0.4706 0.7552 0.4188 0.4393 0.5364 0.6552 0.54 0.74 0.44 0.66 0.42 rs4618168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5127 0.7485 0.4630 0.5845 0.7657 0.4184 0.4318 0.5055 0.6474 0.5336 0.7489 0.4547 0.5530 0.7562 0.4080 0.4209 0.4847 het 1300.52 84 3 40286017 . T C 1300.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.806;DP=84;Dels=0.00;FS=0.865;HRun=0;HaplotypeScore=0.9983;MQ=59.73;MQ0=0;MQRankSum=-1.758;QD=15.48;ReadPosRankSum=-0.568;VQSLOD=5.7304;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,51:84:99:1331,0,801 3 40468896 40468896 C T exonic ENTPD3 nonsynonymous SNV ENTPD3:NM_001248:exon11:c.C1487T:p.A496V,ENTPD3:NM_001291960:exon11:c.C1487T:p.A496V 0.28 0.038 0.29 0.49 0.29 0.37 0.3119 0.0785 0.3513 0.4766 0.3525 0.2982 0.3687 0.3812 0.23 0.085 0.3 0.22 0.29 rs1047855 COSM4158023 1(thyroid) . . . . . . . . . . . 0.475 0.083 T 0.004 0.112 B 0.002 0.063 B 0.278 0.150 N 1 0.090 P 0.345 0.112 N 2.94 0.098 T 0.32 0.040 N 0.079 0.071 -0.936 0.432 T 0.000 0.000 T . . . 0.751 0.166 9.154 0.741 0.102 0.100 0.154 N c -1.317 -1.307 0.552 0.213 0.487 0.133 0 -1.64 0.078 0.355 0.198 0.065 0.171 0.033 0.204 0.087 0.184 5.608 0.166 . ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000168032.4|ENSG00000223797.1|ENSG00000168032.4|ENSG00000230274.1|ENSG00000177873.8|ENSG00000168032.4|ENSG00000223797.1|ENSG00000223797.1|ENSG00000188846.9|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000188846.9|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000230274.1|ENSG00000223797.1|ENSG00000188846.9|ENSG00000223797.1|ENSG00000230274.1|ENSG00000272452.1|ENSG00000223797.1|ENSG00000188846.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3185 0.0716 0.3456 0.3102 0.4847 0.3553 0.2951 0.3235 0.3783 0.2535 0.0786 0.3329 0.3 0.4831 0.3449 0.3011 0.3020 het 2026.51 168 3 40468896 . C T 2026.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.123;DP=168;Dels=0.00;FS=5.599;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.455;QD=12.06;ReadPosRankSum=-1.812;VQSLOD=4.9470;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,76:168:99:2057,0,2473 3 40503520 40503520 - CTGCTG exonic RPL14 nonframeshift insertion RPL14:NM_001034996:exon6:c.445_446insCTGCTG:p.A159_K160insAA,RPL14:NM_003973:exon6:c.445_446insCTGCTG:p.A159_K160insAA 0.071 0.033 0.082 0.11 0.033 0.11 . . . . . . . . . . . . . rs57354599 COSM1044560 1(ovary);1(urinary_tract);2(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1856 0.1047 0.3875 0.0690 0.4929 0.2580 0.1701 0.2087 hom 657.93 24 3 40503520 . A ACTGCTG 657.93 Mask AC=2;AF=1.00;AN=2;DP=24;FS=0.000;HRun=0;HaplotypeScore=169.9255;MQ=30.91;MQ0=1;QD=22.69;set=variant2 GT:AD:DP:GQ:PL 1/1:24,5:24:24.08:700,24,0 3 41756965 41756965 C T exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon23:c.G1645A:p.V549I,ULK4:NM_001322500:exon24:c.G2551A:p.V851I,ULK4:NM_017886:exon24:c.G2551A:p.V851I 0.27 0.53 0.16 0.15 0.18 0.18 0.1975 0.4870 0.1082 0.1793 0.2346 0.1732 0.2144 0.1797 0.27 0.47 0.17 0.33 0.16 rs61744388 COSM3760080;COSM3760079 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.442 0.092 T 0.002 0.090 B 0.005 0.104 B 0.060 0.223 N 1 0.090 P 0.99 0.251 L -0.01 0.628 T -0.29 0.117 N 0.041 0.021 -0.973 0.365 T 0.000 0.000 T . . . -0.530 0.054 0.185 0.720 0.095 0.025 0.069 N c -1.898 -1.973 1.000 0.747 0.638 0.428 0 -10.1 0.003 -0.870 0.043 -1.957 0.005 0.000 0.063 0.034 0.151 25.247 1.000 Armadillo-like helical ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.1920 0.4925 0.1182 0.1827 0.1834 0.2275 0.1711 0.2033 0.1793 0.2662 0.4830 0.1160 0.2086 0.1828 0.2199 0.1742 0.2065 het 1370.32 137 3 41756965 . C T 1370.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.799;DP=137;Dels=0.00;FS=3.157;HRun=0;HaplotypeScore=3.2355;MQ=59.32;MQ0=0;MQRankSum=-1.030;QD=10.00;ReadPosRankSum=-1.047;VQSLOD=4.7084;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,55:137:99:1400,0,2273 3 41756986 41756986 A T exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon23:c.T1624A:p.L542M,ULK4:NM_001322500:exon24:c.T2530A:p.L844M,ULK4:NM_017886:exon24:c.T2530A:p.L844M 0.27 0.53 0.16 0.15 0.18 0.18 0.1975 0.4871 0.1083 0.1793 0.2349 0.1732 0.2144 0.1797 0.27 0.47 0.17 0.33 0.16 rs61744385 COSM3760081 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.965 0.021 T 0.001 0.067 B 0.003 0.080 B 0.019 0.273 N 1 0.090 P -0.715 0.018 N 0.66 0.524 T 0.61 0.025 N 0.07 0.058 -0.950 0.410 T 0.000 0.000 T . . . 0.701 0.161 8.832 0.795 0.124 0.015 0.050 N c -1.481 -1.360 0.605 0.217 0.638 0.428 0 -1.82 0.074 0.143 0.158 -0.225 0.096 0.311 0.252 0.992 0.562 4.479 0.111 Armadillo-like helical ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.1920 0.4923 0.1182 0.1826 0.1834 0.2275 0.1712 0.2030 0.1793 0.2660 0.4831 0.1184 0.2033 0.1820 0.2196 0.1738 0.2065 het 1355.15 130 3 41756986 . A T 1355.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.687;DP=130;Dels=0.00;FS=2.311;HRun=0;HaplotypeScore=6.2812;MQ=59.29;MQ0=0;MQRankSum=-0.524;QD=10.42;ReadPosRankSum=-0.232;VQSLOD=4.4184;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,53:130:99:1385,0,1976 3 41831203 41831203 C T exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon20:c.G1237A:p.A413T,ULK4:NM_001322500:exon21:c.G2143A:p.A715T,ULK4:NM_017886:exon21:c.G2143A:p.A715T 0.082 0.055 0.088 0.002 0.17 0.11 0.1241 0.0662 0.0710 0.0005 0.2008 0.1507 0.1422 0.1210 0.12 0.066 0.15 0.11 0.11 rs17215589 COSM3760082 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.002 0.381 N 1.000 0.197 P 0.2 0.092 N -0.19 0.659 T 0.67 0.023 N 0.075 0.065 -1.056 0.127 T 0.000 0.000 T . . . 2.255 0.332 17.87 0.199 0.007 0.156 0.188 N c -1.132 -0.960 0.635 0.220 0.615 0.372 0 2.31 0.277 -0.183 0.096 0.154 0.240 0.752 0.289 0.972 0.466 4.546 0.114 Armadillo-like helical|Armadillo-type fold ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.1242 0.0632 0.0774 0.1407 0.0005 0.1956 0.1502 0.1420 0.1189 0.1229 0.0699 0.0752 0.1457 0.0006 0.1829 0.1529 0.1589 het 1744.42 161 3 41831203 . C T 1744.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.151;DP=161;Dels=0.00;FS=2.028;HRun=0;HaplotypeScore=1.8533;MQ=58.45;MQ0=0;MQRankSum=1.860;QD=10.83;ReadPosRankSum=0.528;VQSLOD=5.8102;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,72:161:99:1774,0,2154 3 41841716 41841716 A C exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon19:c.T1012G:p.S338A,ULK4:NM_001322500:exon20:c.T1918G:p.S640A,ULK4:NM_017886:exon20:c.T1918G:p.S640A 0.87 0.99 0.92 0.75 0.82 0.84 0.8512 0.9719 0.9355 0.7862 0.7802 0.8375 0.81 0.8409 0.88 0.97 0.84 0.89 0.83 rs4973986 COSM4415122 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000455782.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.037 0.245 N 1.000 0.090 P -1.525 0.005 N -0.09 0.641 T 1.04 0.013 N 0.051 0.032 -0.929 0.443 T 0.000 0.000 T . . . 1.212 0.211 11.81 0.447 0.034 0.262 0.227 N c -0.735 -0.434 0.030 0.139 0.615 0.372 0 5.32 0.753 2.214 0.423 0.067 0.174 1.000 0.715 0.976 0.476 15.852 0.786 Armadillo-like helical|Armadillo-type fold . . 0.8507 0.9725 0.9302 0.8926 0.7803 0.7749 0.8347 0.8523 0.8426 0.8625 0.9692 0.9093 0.8709 0.7876 0.7815 0.8255 0.8473 hom 6748.41 221 3 41841716 . A C 6748.41 Mask AC=2;AF=1.00;AN=2;DP=221;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2973;MQ=57.74;MQ0=0;QD=30.54;VQSLOD=6.1033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,219:221:99:6712,509,0 3 41877414 41877414 T C exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon17:c.A800G:p.K267R,ULK4:NM_001322500:exon18:c.A1706G:p.K569R,ULK4:NM_017886:exon18:c.A1706G:p.K569R 0.17 0.2 0.14 0.15 0.18 0.18 0.1714 0.2075 0.1026 0.1773 0.2282 0.1696 0.1922 0.1787 0.18 0.21 0.17 0.22 0.14 rs3774372 COSM3760083 2(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . Blood pressure . -0.3 21909110 rs3774372 8E-7 0.322 0.135 T 0.78 0.423 P 0.288 0.389 B 0.000 0.629 U 0.108 0.360 P 1.74 0.453 L -0.1 0.643 T -1.31 0.328 N 0.298 0.358 -1.069 0.096 T 0.000 0.000 T . . . 2.842 0.402 21.6 0.996 0.756 0.888 0.486 D c 0.172 0.291 0.999 0.380 0.554 0.246 0 5.48 0.806 4.278 0.585 0.964 0.580 1.000 0.715 0.993 0.574 14.100 0.644 Armadillo-like helical|Armadillo-type fold ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.1689 0.2035 0.1120 0.1632 0.1800 0.2217 0.1672 0.1827 0.1751 0.1821 0.2057 0.1070 0.1812 0.1797 0.2086 0.1667 0.1839 het 2134.39 152 3 41877414 . T C 2134.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.645;DP=152;DS;Dels=0.00;FS=15.301;HRun=0;HaplotypeScore=3.6671;MQ=58.02;MQ0=0;MQRankSum=1.233;QD=14.04;ReadPosRankSum=0.514;VQSLOD=3.0737;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,74:152:99:2164,0,2187 3 41925398 41925398 C T exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon16:c.G718A:p.A240T,ULK4:NM_001322500:exon17:c.G1624A:p.A542T,ULK4:NM_017886:exon17:c.G1624A:p.A542T 0.69 0.3 0.82 0.85 0.81 0.82 0.7885 0.3587 0.8721 0.8232 0.7709 0.8266 0.7778 0.8204 0.68 0.38 0.83 0.56 0.77 rs1052501 COSM4002689;COSM4002690 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454745.1 MedGen CN169374 Multiple myeloma 1.32 . 22120009 rs1052501 2E-8 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.465 0.123 N 1 0.090 P -1.09 0.010 N -0.09 0.641 T 2.23 0.005 N 0.022 0.005 -0.981 0.349 T 0.000 0.000 T . . . 0.043 0.098 3.008 0.212 0.008 0.001 0.006 N c -1.606 -1.477 0.003 0.097 0.638 0.428 0 0.24 0.147 -0.012 0.125 -0.211 0.100 0.008 0.178 0.922 0.397 3.74 0.080 Armadillo-like helical|Armadillo-type fold ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.7952 0.3503 0.8597 0.8168 0.8177 0.7770 0.8283 0.7859 0.8209 0.6902 0.3574 0.8616 0.8079 0.8185 0.7867 0.8288 0.7883 het 1374.88 114 3 41925398 . C T 1374.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.188;DP=114;Dels=0.00;FS=1.508;HRun=1;HaplotypeScore=1.6281;MQ=58.03;MQ0=0;MQRankSum=-0.839;QD=12.06;ReadPosRankSum=-0.312;VQSLOD=5.1720;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,57:114:99:1405,0,1454 3 41925423 41925423 T C exonic ULK4 synonymous SNV ULK4:NM_001322501:exon16:c.A693G:p.V231V,ULK4:NM_001322500:exon17:c.A1599G:p.V533V,ULK4:NM_017886:exon17:c.A1599G:p.V533V 0.92 0.71 0.98 1. 1. 1. 0.9769 0.7632 0.9825 1 0.9991 0.9967 0.9789 0.9992 0.92 0.77 1. 0.85 0.93 rs1716687 . . Benign not_specified RCV000455353.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9795 0.7529 0.9821 0.9813 1 0.9992 0.9971 0.9799 0.9990 0.9314 0.7644 0.9809 0.9901 1 0.9983 0.9980 0.9837 hom 2907.18 100 3 41925423 . T C 2907.18 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.27;MQ0=0;QD=29.07;VQSLOD=8.0697;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:2940,223,0 3 41952852 41952852 T C exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon10:c.A136G:p.S46G,ULK4:NM_001322500:exon11:c.A1042G:p.S348G,ULK4:NM_017886:exon11:c.A1042G:p.S348G 0.084 0.064 0.091 0.002 0.17 0.11 0.1244 0.0749 0.0715 0.0005 0.1997 0.1504 0.1411 0.1195 0.13 0.077 0.15 0.11 0.13 rs35263917 COSM3760084 1(large_intestine) . . . . . . . . . . . 0.003 0.682 D 0.917 0.488 P 0.437 0.438 B 0.275 0.150 N 0.438 0.322 P 2.425 0.705 M 0.42 0.689 T -2.37 0.522 N 0.081 0.074 -1.026 0.217 T 0.001 0.003 T . . . 3.221 0.446 22.7 0.997 0.840 0.944 0.608 D c 0.458 0.465 0.998 0.359 0.615 0.372 0 5.22 0.722 5.773 0.683 0.961 0.567 1.000 0.715 0.187 0.214 14.126 0.646 . ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.1245 0.0726 0.0780 0.1405 0.0005 0.1943 0.1500 0.1408 0.1192 0.1259 0.0808 0.0752 0.1457 0.0006 0.1823 0.1528 0.1592 het 1463.70 106 3 41952852 . T C 1463.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.598;DP=106;Dels=0.00;FS=0.725;HRun=1;HaplotypeScore=3.6906;MQ=59.56;MQ0=0;MQRankSum=-0.522;QD=13.81;ReadPosRankSum=-0.041;VQSLOD=5.4323;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,56:106:99:1494,0,1207 3 41960006 41960006 T C exonic ULK4 nonsynonymous SNV ULK4:NM_001322500:exon7:c.A670G:p.I224V,ULK4:NM_017886:exon7:c.A670G:p.I224V 0.68 0.28 0.8 0.85 0.8 0.83 0.7847 0.3362 0.8671 0.8219 0.7714 0.8230 0.7711 0.8252 0.67 0.34 0.82 0.56 0.8 rs1716975 COSM4158031;COSM4158030 1(thyroid) Benign not_specified RCV000454894.1 MedGen CN169374 . . . . . . 0.536 0.069 T 0.0 0.026 B 0.002 0.063 B 0.419 0.046 N 1 0.090 P 0.76 0.193 N -0.1 0.643 T -0.41 0.140 N 0.017 0.009 -1.004 0.288 T 0.000 0.000 T . . . -1.794 0.011 0.002 0.359 0.023 0.012 0.042 N c -1.562 -1.574 0.960 0.284 0.615 0.372 0 -5.89 0.021 0.135 0.157 -1.720 0.007 0.032 0.204 0.095 0.187 4.223 0.099 Protein kinase domain|Protein kinase-like domain ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.7869 0.3221 0.8507 0.8134 0.8138 0.7754 0.8222 0.7775 0.8222 0.6804 0.3297 0.8566 0.8046 0.8168 0.7867 0.8260 0.7814 het 1727.01 136 3 41960006 . T C 1727.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.409;DP=136;Dels=0.00;FS=2.205;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=0.485;QD=12.70;ReadPosRankSum=1.587;VQSLOD=5.2580;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,70:136:99:1757,0,1457 3 41996136 41996136 T C exonic ULK4 nonsynonymous SNV ULK4:NM_001322500:exon2:c.A116G:p.K39R,ULK4:NM_017886:exon2:c.A116G:p.K39R 0.68 0.28 0.81 0.85 0.81 0.83 0.7869 0.3366 0.8705 0.8237 0.7713 0.8259 0.7717 0.8264 0.68 0.36 0.82 0.58 0.84 rs2272007 COSM1131441;COSM1131440 1(haematopoietic_and_lymphoid_tissue);3(prostate) Benign not_specified RCV000455513.1 MedGen CN169374 Multiple myeloma (hyperdiploidy) 1.47 . 23502783 rs2272007 2E-9 0.32 0.139 T 0.022 0.281 B 0.059 0.314 B 0.000 0.497 N 0.042 0.380 P -0.03 0.050 N -0.19 0.659 T -1.1 0.356 N 0.122 0.141 -1.015 0.253 T 0.000 0.000 T . . . 2.048 0.307 16.52 0.900 0.187 0.923 0.552 D c -0.353 -0.120 1.000 0.401 0.615 0.372 0 4.4 0.522 3.827 0.552 1.058 0.762 1.000 0.715 1.000 0.888 11.703 0.507 Protein kinase domain|Protein kinase-like domain ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.7933 0.3270 0.8569 0.8169 0.8175 0.7773 0.8272 0.7824 0.8253 0.6825 0.3308 0.8612 0.8079 0.8199 0.7864 0.8288 0.7847 het 2931.55 215 3 41996136 . T C 2931.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.999;DP=215;Dels=0.00;FS=0.502;HRun=0;HaplotypeScore=8.7157;MQ=58.41;MQ0=0;MQRankSum=0.837;QD=13.64;ReadPosRankSum=-1.080;VQSLOD=4.4627;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,109:215:99:2962,0,2701 3 42236415 42236415 A G exonic TRAK1 synonymous SNV TRAK1:NM_001265609:exon9:c.A873G:p.S291S,TRAK1:NM_001265610:exon9:c.A873G:p.S291S,TRAK1:NM_001349248:exon9:c.A873G:p.S291S,TRAK1:NM_001349249:exon9:c.A873G:p.S291S,TRAK1:NM_014965:exon9:c.A921G:p.S307S,TRAK1:NM_001042646:exon10:c.A1095G:p.S365S,TRAK1:NM_001265608:exon10:c.A1095G:p.S365S,TRAK1:NM_001349245:exon10:c.A783G:p.S261S,TRAK1:NM_001349246:exon10:c.A1095G:p.S365S,TRAK1:NM_001349247:exon10:c.A1095G:p.S365S 0.79 0.69 0.86 0.98 0.77 0.7 0.7825 0.6860 0.8978 0.9863 0.8398 0.7626 0.8018 0.7111 0.73 0.69 0.75 0.79 0.81 rs9851455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7872 0.6884 0.8830 0.7403 0.9855 0.8299 0.7576 0.7811 0.7120 0.7754 0.6966 0.8675 0.7483 0.9834 0.8436 0.7761 0.8065 hom 2082.88 70 3 42236415 . A G 2082.88 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6040;MQ=59.07;MQ0=0;QD=29.76;VQSLOD=9.1535;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2116,168,0 3 42251263 42251263 C T exonic TRAK1 synonymous SNV TRAK1:NM_001265609:exon13:c.C1527T:p.S509S,TRAK1:NM_001349248:exon13:c.C1527T:p.S509S,TRAK1:NM_001349249:exon13:c.C1527T:p.S509S,TRAK1:NM_014965:exon13:c.C1575T:p.S525S,TRAK1:NM_001042646:exon14:c.C1749T:p.S583S,TRAK1:NM_001265608:exon14:c.C1749T:p.S583S,TRAK1:NM_001349245:exon14:c.C1437T:p.S479S,TRAK1:NM_001349246:exon14:c.C1749T:p.S583S,TRAK1:NM_001349247:exon14:c.C1749T:p.S583S 0.52 0.43 0.65 0.5 0.5 0.56 0.5288 0.4583 0.6620 0.5238 0.4959 0.5138 0.5288 0.5564 0.49 0.45 0.51 0.48 0.53 rs2290134 COSM4158032;COSM4158034;COSM4158033 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5306 0.4593 0.6501 0.5068 0.5299 0.4825 0.5093 0.5322 0.5548 0.4985 0.4542 0.6471 0.5132 0.5377 0.4903 0.5115 0.5286 het 1121.31 89 3 42251263 . C T 1121.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.727;DP=89;Dels=0.00;FS=4.307;HRun=0;HaplotypeScore=3.9801;MQ=59.32;MQ0=0;MQRankSum=0.260;QD=12.60;ReadPosRankSum=-0.252;VQSLOD=5.6581;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,39:89:99:1151,0,1378 3 42251329 42251329 C T exonic TRAK1 synonymous SNV TRAK1:NM_001265609:exon13:c.C1593T:p.P531P,TRAK1:NM_001349248:exon13:c.C1593T:p.P531P,TRAK1:NM_001349249:exon13:c.C1593T:p.P531P,TRAK1:NM_014965:exon13:c.C1641T:p.P547P,TRAK1:NM_001042646:exon14:c.C1815T:p.P605P,TRAK1:NM_001265608:exon14:c.C1815T:p.P605P,TRAK1:NM_001349245:exon14:c.C1503T:p.P501P,TRAK1:NM_001349246:exon14:c.C1815T:p.P605P,TRAK1:NM_001349247:exon14:c.C1815T:p.P605P 0.36 0.24 0.53 0.47 0.28 0.38 0.3394 0.2618 0.5720 0.4824 0.2828 0.2899 0.3466 0.3723 0.29 0.26 0.3 0.25 0.3 rs2290133 COSM4002693;COSM4002692;COSM4002694 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3502 0.2631 0.5578 0.3325 0.4871 0.2811 0.2888 0.3423 0.3705 0.2991 0.2636 0.5478 0.3675 0.4894 0.2829 0.2875 0.3031 het 2479.47 164 3 42251329 . C T 2479.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.694;DP=164;Dels=0.00;FS=5.030;HRun=0;HaplotypeScore=7.1848;MQ=59.07;MQ0=0;MQRankSum=1.922;QD=15.12;ReadPosRankSum=1.400;VQSLOD=4.0967;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,91:164:99:2509,0,1979 3 42251577 42251577 - GGA exonic TRAK1 nonframeshift insertion TRAK1:NM_001265609:exon13:c.1841_1842insGGA:p.E624_G625insE,TRAK1:NM_014965:exon13:c.1889_1890insGGA:p.E640_G641insE,TRAK1:NM_001265608:exon14:c.2063_2064insGGA:p.E698_G699insE . . . . . . . . . . . . . . . . . . . rs778048843 COSM4603519 11(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2738 0.3127 0.3175 0.2221 0.4498 0.3176 0.2466 0.2652 0.1762 0.2983 0.3266 0.2363 0.2461 0.4341 0.3377 0.2628 0.2726 het 2675.53 113 3 42251577 . C CGGA 2675.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.465;DP=113;FS=0.000;HRun=0;HaplotypeScore=619.4563;MQ=57.25;MQ0=0;MQRankSum=0.374;QD=23.68;ReadPosRankSum=-0.805;set=variant2 GT:AD:DP:GQ:PL 0/1:72,32:113:45.03:2715,0,45 3 42599091 42599091 G A exonic SEC22C synonymous SNV SEC22C:NM_001201572:exon5:c.C624T:p.H208H,SEC22C:NM_001201584:exon5:c.C624T:p.H208H,SEC22C:NM_004206:exon5:c.C624T:p.H208H,SEC22C:NM_032970:exon5:c.C624T:p.H208H 0.34 0.45 0.22 0.47 0.2 0.26 0.2346 0.3982 0.1564 0.4806 0.2254 0.1940 0.2676 0.2235 0.27 0.39 0.2 0.34 0.21 rs2271184 COSM3760087;COSM3760086 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2290 0.3980 0.1600 0.2160 0.4781 0.2217 0.1947 0.2152 0.2166 0.2786 0.3936 0.1409 0.2318 0.5155 0.2096 0.2129 0.2363 het 1242.69 126 3 42599091 . G A 1242.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.891;DP=126;Dels=0.00;FS=1.486;HRun=0;HaplotypeScore=7.0371;MQ=59.34;MQ0=0;MQRankSum=-0.304;QD=9.86;ReadPosRankSum=0.656;VQSLOD=4.4916;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,48:126:99:1273,0,2107 3 42610374 42610374 A G exonic SEC22C synonymous SNV SEC22C:NM_001201572:exon2:c.T165C:p.G55G,SEC22C:NM_001201584:exon2:c.T165C:p.G55G,SEC22C:NM_004206:exon2:c.T165C:p.G55G,SEC22C:NM_032970:exon2:c.T165C:p.G55G 0.54 0.8 0.3 0.58 0.34 0.51 0.3926 0.7182 0.2276 0.6063 0.3344 0.3252 0.3998 0.4865 0.45 0.7 0.33 0.53 0.32 rs2271186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3784 0.7233 0.2362 0.3105 0.6058 0.3261 0.3281 0.3444 0.4830 0.4603 0.7137 0.2129 0.3079 0.6349 0.3176 0.3494 0.3857 het 1039.99 88 3 42610374 . A G 1039.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.493;DP=88;Dels=0.00;FS=0.830;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;MQRankSum=-1.018;QD=11.82;ReadPosRankSum=1.940;VQSLOD=5.5074;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,40:88:99:1070,0,1184 3 42610515 42610515 G A exonic SEC22C synonymous SNV SEC22C:NM_001201572:exon2:c.C24T:p.C8C,SEC22C:NM_001201584:exon2:c.C24T:p.C8C,SEC22C:NM_004206:exon2:c.C24T:p.C8C,SEC22C:NM_032970:exon2:c.C24T:p.C8C 0.31 0.4 0.21 0.47 0.18 0.26 0.2224 0.3557 0.1530 0.4748 0.2129 0.1802 0.2619 0.2258 0.24 0.34 0.19 0.28 0.21 rs2271187 COSM5619347;COSM5619346 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2167 0.3501 0.1558 0.2076 0.4757 0.2045 0.1801 0.2061 0.2187 0.2558 0.3449 0.1283 0.2119 0.5074 0.2021 0.1996 0.2198 het 249.07 34 3 42610515 . G A 249.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.879;DP=34;Dels=0.00;FS=3.673;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-1.179;QD=7.33;ReadPosRankSum=1.740;VQSLOD=4.0118;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,12:34:99:279,0,592 3 42679486 42679486 A G exonic NKTR nonsynonymous SNV NKTR:NM_001349124:exon13:c.A2290G:p.K764E,NKTR:NM_005385:exon13:c.A2290G:p.K764E,NKTR:NM_001349125:exon15:c.A1531G:p.K511E,NKTR:NM_001349126:exon15:c.A1186G:p.K396E 0.0028 . 0.01 . 0.007 . 0.0077 0.0022 0.0049 0.0001 0.0026 0.0114 0.0122 0.0041 0.0093 0.003 0.013 . 0.0082 rs150528581 COSM4442960 1(large_intestine) . . . . . . . . . . . 0.102 0.302 T 0.019 0.167 B 0.011 0.145 B 0.181 0.171 N 1 0.090 N 1.245 0.315 L 2.73 0.119 T -0.93 0.249 N 0.062 0.047 -1.030 0.204 T 0.023 0.099 T . . . 1.001 0.190 10.67 0.815 0.132 0.738 0.358 D c -0.631 -0.659 1.000 0.411 0.707 0.730 0 0.224 0.145 1.764 0.379 1.139 0.885 0.929 0.320 0.362 0.248 6.719 0.224 . . . 0.0078 0.0021 0.0062 0.0030 0.0001 0.0027 0.0127 0.0074 0.0040 0.0073 0.0028 0.0060 0.0033 0 0.0035 0.0115 0.0112 het 814.64 88 3 42679486 . A G 814.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.947;DP=88;Dels=0.00;FS=7.186;HRun=3;HaplotypeScore=1.9973;MQ=59.74;MQ0=0;MQRankSum=0.152;QD=9.26;ReadPosRankSum=-0.958;VQSLOD=2.8338;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,32:88:99:845,0,1588 3 42728144 42728144 A G exonic KLHL40 nonsynonymous SNV KLHL40:NM_152393:exon1:c.A1034G:p.N345S 0.62 0.36 0.59 0.83 0.67 0.72 0.6489 0.4051 0.6036 0.8120 0.7156 0.6535 0.6836 0.7012 0.56 0.41 0.63 0.54 0.52 rs6805421 COSM149365 1(breast);1(stomach);1(pancreas);1(thyroid) Benign not_specified RCV000218146.2 MedGen CN169374 . . . . . . 0.535 0.069 T 0.002 0.090 B 0.001 0.040 B 0.000 0.523 D 0.999 0.216 P -0.345 0.033 N -0.19 0.659 T 0.42 0.034 N 0.004 0.000 -0.958 0.395 T 0.000 0.000 T . . . 0.567 0.148 7.924 0.711 0.092 0.799 0.394 D c -0.790 -0.550 1.000 0.747 0.447 0.083 0 3.24 0.361 1.534 0.354 -0.330 0.074 0.776 0.292 0.980 0.490 11.030 0.468 Kelch-type beta propeller . . 0.6518 0.3963 0.6057 0.6198 0.8234 0.7196 0.6507 0.6532 0.6980 0.5969 0.4014 0.5839 0.6324 0.8149 0.7188 0.6533 0.6813 het 1918.14 192 3 42728144 . A G 1918.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.599;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.88;MQ0=0;MQRankSum=-1.163;QD=9.99;ReadPosRankSum=-1.741;VQSLOD=5.8505;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:120,72:192:99:1948,0,3284 3 42733468 42733468 T C exonic KLHL40 nonsynonymous SNV KLHL40:NM_152393:exon6:c.T1849C:p.C617R 0.9 0.94 0.87 1. 0.77 0.89 0.8168 0.9158 0.9191 0.9993 0.7177 0.7585 0.8139 0.8621 0.81 0.9 0.75 0.88 0.67 rs123509 . . Uncertain significance|Benign not_specified|not_specified RCV000213109.1|RCV000220535.3 MedGen|MedGen CN169374|CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.009 0.412 P -2.05 0.002 N -0.36 0.688 T 3.88 0.001 N 0.11 0.118 -0.961 0.391 T 0.000 0.000 T . . . -0.806 0.040 0.041 0.437 0.033 0.038 0.091 N c -1.306 -1.077 0.993 0.331 0.497 0.185 0 3.29 0.366 1.261 0.324 0.029 0.149 1.000 0.715 0.976 0.476 7.379 0.259 . ENSG00000244607.1|ENSG00000010282.10|ENSG00000181061.9 Artery_Aorta|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8140 0.9189 0.9056 0.7382 0.9991 0.7164 0.7580 0.8036 0.8584 0.8038 0.9076 0.8897 0.7550 0.9981 0.7221 0.7394 0.7745 hom 2377.42 82 3 42733468 . T C 2377.42 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=28.99;VQSLOD=8.7203;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2410,208,0 3 42735150 42735150 T C exonic HHATL nonsynonymous SNV HHATL:NM_020707:exon10:c.A1207G:p.M403V 0.65 0.68 0.68 0.71 0.59 0.58 0.6080 0.6564 0.6444 0.7217 0.5938 0.5917 0.6289 0.5629 0.61 0.65 0.59 0.63 0.53 rs11079 COSM4158036 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.975 0.255 P -2.05 0.002 N -0.65 0.722 T 1.88 0.005 N 0.014 0.002 -0.928 0.444 T 0.000 0.000 T . . . -0.302 0.068 0.659 0.859 0.157 0.404 0.262 N c -0.998 -0.696 0.999 0.390 0.581 0.326 0 4.35 0.513 3.169 0.503 0.008 0.138 1.000 0.715 0.998 0.697 12.485 0.550 . ENSG00000244607.1|ENSG00000244607.1|ENSG00000244607.1|ENSG00000010282.10|ENSG00000010282.10|ENSG00000244607.1 Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6084 0.6549 0.6461 0.5815 0.7288 0.5929 0.5893 0.6265 0.5631 0.6099 0.6461 0.6420 0.6 0.7283 0.5999 0.5768 0.6092 hom 1825.79 62 3 42735150 . T C 1825.79 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.45;VQSLOD=13.2906;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1859,141,0 3 42735274 42735274 A G exonic HHATL synonymous SNV HHATL:NM_020707:exon10:c.T1083C:p.A361A 0.7 0.85 0.69 0.71 0.6 0.6 0.6251 0.8150 0.6534 0.7246 0.5914 0.5938 0.6476 0.5721 0.66 0.8 0.59 0.7 0.54 rs339697 COSM4158037 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6225 0.8172 0.6547 0.5843 0.7305 0.5929 0.5915 0.6412 0.5726 0.6546 0.7994 0.6539 0.5993 0.7333 0.6008 0.5778 0.6183 hom 2200.73 72 3 42735274 . A G 2200.73 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=59.39;MQ0=0;QD=30.57;VQSLOD=8.7464;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2234,184,0 3 42772038 42772038 A T exonic CCDC13 nonsynonymous SNV CCDC13:NM_144719:exon13:c.T1639A:p.S547T 0.2 0.25 0.18 0.11 0.18 0.28 0.1968 0.2444 0.2089 0.1132 0.1401 0.1823 0.1811 0.2835 0.2 0.24 0.18 0.22 0.17 rs12495805 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.039 0.242 N 1 0.090 P -1.995 0.002 N 2.86 0.105 T 0.32 0.040 N 0.017 0.003 -0.946 0.417 T 0.000 0.000 T . . . -1.534 0.016 0.002 0.752 0.106 0.010 0.038 N c -1.745 -1.633 0.624 0.219 0.487 0.133 0 -3.26 0.047 -0.471 0.067 -0.701 0.038 0.001 0.137 0.004 0.083 10.147 0.418 . ENSG00000173811.6|ENSG00000244607.1|ENSG00000173811.6|ENSG00000244607.1|ENSG00000173811.6|ENSG00000173811.6|ENSG00000244607.1|ENSG00000173811.6|ENSG00000173811.6|ENSG00000244607.1|ENSG00000173811.6|ENSG00000244607.1|ENSG00000244607.1|ENSG00000173811.6|ENSG00000173811.6|ENSG00000244607.1|ENSG00000225611.1|ENSG00000173811.6|ENSG00000244607.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Prostate|Prostate|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.1918 0.2460 0.2056 0.1757 0.1107 0.1350 0.1823 0.1718 0.2792 0.1852 0.2433 0.1862 0.1767 0.0965 0.1364 0.1736 0.1677 het 398.41 41 3 42772038 . A T 398.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.612;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6647;MQ=59.44;MQ0=0;MQRankSum=-0.476;QD=9.72;ReadPosRankSum=0.313;VQSLOD=6.5154;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,18:41:99:428,0,578 3 42787469 42787469 A G exonic CCDC13 synonymous SNV CCDC13:NM_144719:exon7:c.T771C:p.S257S 0.5 0.54 0.4 0.45 0.46 0.61 0.4876 0.5501 0.4208 0.4449 0.4666 0.4705 0.4449 0.5974 0.49 0.54 0.46 0.5 0.48 rs2240859 COSM3760091 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4777 0.5528 0.4149 0.4573 0.4349 0.4646 0.4680 0.4499 0.5887 0.4808 0.5421 0.3950 0.4205 0.4224 0.4662 0.4614 0.4724 het 2077.52 179 3 42787469 . A G 2077.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.327;DP=179;Dels=0.00;FS=0.557;HRun=1;HaplotypeScore=7.5061;MQ=58.51;MQ0=0;MQRankSum=-0.865;QD=11.61;ReadPosRankSum=0.099;VQSLOD=4.5548;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,81:179:99:2108,0,2383 3 42907112 42907112 A C exonic ACKR2 nonsynonymous SNV ACKR2:NM_001296:exon3:c.A1118C:p.Y373S 0.44 0.23 0.58 0.68 0.4 0.43 0.4218 0.2552 0.6998 0.6769 0.3406 0.3770 0.4547 0.4084 0.35 0.25 0.4 0.42 0.31 rs2228468 COSM1423149 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . Monocyte count . .14 23314186 rs2228468 5E-7 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.35 0.001 N -0.52 0.707 T 0.57 0.026 N 0.009 0.001 -0.940 0.426 T 0.000 0.000 T . . . -1.658 0.013 0.002 0.602 0.063 0.004 0.020 N c -1.585 -1.570 0.001 0.074 0.497 0.185 0 0.689 0.171 -0.501 0.064 -1.096 0.019 0.000 0.063 0.001 0.043 3.105 0.059 . ENSG00000273328.1 Testis 0.4327 0.2478 0.6827 0.3588 0.6834 0.3470 0.3776 0.4273 0.3967 0.3531 0.2509 0.6695 0.3477 0.6781 0.3502 0.3591 0.3747 hom 4220.63 140 3 42907112 . A C 4220.63 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.7280;MQ=59.40;MQ0=0;QD=30.15;VQSLOD=7.7867;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4220,322,0 3 42917047 42917047 A G exonic CYP8B1 nonsynonymous SNV CYP8B1:NM_004391:exon1:c.T262C:p.S88P 0.98 0.94 1. 1. 1. 1. 0.9952 0.9497 0.9992 1 1 0.9999 0.9924 0.9999 0.98 0.95 1. 0.99 1. rs9865715 . . . . . . . . . . . . . 0.731 0.051 T 0.0 0.026 B 0.004 0.093 B 0.000 0.439 N 1.000 0.588 P -0.885 0.014 N -0.38 0.690 T 0.56 0.028 N 0.044 0.091 -0.979 0.353 T 0.000 0.000 T . . . 1.185 0.209 11.67 0.724 0.096 0.232 0.218 N c -0.865 -0.678 0.999 0.383 0.497 0.185 0 3.17 0.354 0.844 0.271 0.138 0.222 0.335 0.254 0.998 0.697 8.957 0.348 . . . 0.9957 0.9499 0.9988 1 1 1 0.9999 0.9971 0.9999 0.9863 0.9523 0.9976 1 1 1 0.9999 0.9959 hom 4003.22 121 3 42917047 . A G 4003.22 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8801;MQ=59.62;MQ0=0;QD=33.08;VQSLOD=9.2841;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:4003,316,0 3 42956273 42956273 T C exonic ZNF662 synonymous SNV ZNF662:NM_001134656:exon4:c.T786C:p.I262I,ZNF662:NM_207404:exon5:c.T708C:p.I236I 0.94 0.82 0.97 1. 0.98 0.98 0.9704 0.8405 0.9857 0.9987 0.9816 0.9805 0.9769 0.9806 0.93 0.84 0.98 0.95 0.98 rs1427801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9734 0.8377 0.9827 0.9872 0.9989 0.9814 0.9802 0.9781 0.9807 0.9420 0.8387 0.9749 0.9901 0.9994 0.9848 0.9806 0.9796 hom 2282.79 78 3 42956273 . T C 2282.79 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4942;MQ=60.00;MQ0=0;QD=29.27;VQSLOD=7.9374;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2316,196,0 3 43121559 43121559 C T exonic POMGNT2 synonymous SNV POMGNT2:NM_032806:exon2:c.G1365A:p.P455P 0.78 0.83 0.81 0.74 0.79 0.74 0.7860 0.8173 0.8353 0.7126 0.8091 0.7963 0.7622 0.7208 0.8 0.81 0.8 0.84 0.8 rs604033 . . Benign not_specified RCV000242426.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7886 0.8182 0.8306 0.7714 0.7155 0.8098 0.7989 0.7973 0.7203 0.7996 0.8162 0.8246 0.7815 0.7123 0.8065 0.7971 0.7935 hom 2848.06 88 3 43121559 . C T 2848.06 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4297;MQ=58.88;MQ0=0;QD=32.36;VQSLOD=8.2067;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2881,238,0 3 44489880 44489880 T C exonic ZNF445 nonsynonymous SNV ZNF445:NM_181489:exon8:c.A1283G:p.Y428C 0.049 0.012 0.065 . 0.17 0.01 0.1134 0.0310 0.0516 0 0.1877 0.1663 0.1355 0.0235 0.11 0.037 0.15 0.065 0.17 rs11710965 COSM5652957 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.113 0.287 T 0.001 0.090 B 0.002 0.063 B 0.746 0.097 N 1 0.090 P 2.09 0.581 M 3.4 0.057 T -1.76 0.416 N 0.04 0.020 -0.989 0.328 T 0.000 0.000 T . . . 1.778 0.275 14.86 0.936 0.228 0.025 0.069 N c -1.100 -1.226 0.171 0.177 0.563 0.310 0 -3.72 0.041 -2.025 0.015 0.020 0.144 0.000 0.063 0.595 0.288 5.022 0.136 . ENSG00000186448.10 Thyroid 0.1128 0.0291 0.0588 0.1493 5.798e-05 0.1944 0.1624 0.1249 0.0239 0.1120 0.0319 0.0695 0.1225 0 0.1972 0.1524 0.1222 het 1607.24 119 3 44489880 . T C 1607.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.425;DP=119;Dels=0.00;FS=2.379;HRun=0;HaplotypeScore=3.2400;MQ=59.06;MQ0=0;MQRankSum=1.374;QD=13.51;ReadPosRankSum=-0.508;VQSLOD=6.2154;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1637,0,1681 3 44607013 44607013 T C exonic ZKSCAN7 nonsynonymous SNV ZKSCAN7:NM_001288592:exon2:c.T8C:p.F3S,ZKSCAN7:NM_001288590:exon3:c.T458C:p.F153S,ZKSCAN7:NM_001288591:exon3:c.T458C:p.F153S,ZKSCAN7:NM_018651:exon3:c.T458C:p.F153S,ZKSCAN7:NM_025169:exon3:c.T458C:p.F153S 0.18 0.3 0.16 0.001 0.32 0.06 0.2464 0.3127 0.1233 0.0002 0.3582 0.3162 0.2577 0.0895 0.31 0.32 0.31 0.3 0.3 rs13081859 COSM3760101 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.404 0.235 T 0.0 0.026 B 0.0 0.013 B 0.677 0.103 N 1 0.090 P -1.245 0.008 N 3.57 0.053 T -0.36 0.360 N 0.012 0.017 -0.912 0.466 T 0.000 0.000 T . . . -0.278 0.070 0.745 0.761 0.110 0.063 0.122 N c -1.159 -1.138 0.003 0.097 0.707 0.730 0 0.533 0.162 0.336 0.194 1.061 0.807 0.462 0.264 0.934 0.407 3.380 0.068 SCAN domain ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000196345.8|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000163807.4|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Colon_Transverse|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood 0.2424 0.3138 0.1335 0.2477 0.0006 0.3622 0.3173 0.2562 0.0879 0.3075 0.3155 0.1516 0.2252 0.0006 0.3614 0.3354 0.2848 het 2662.31 196 3 44607013 . T C 2662.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.999;DP=196;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4360;MQ=59.01;MQ0=0;MQRankSum=1.094;QD=13.58;ReadPosRankSum=-2.299;VQSLOD=4.5624;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,100:196:99:2692,0,2387 3 44611896 44611896 A G exonic ZKSCAN7 nonsynonymous SNV ZKSCAN7:NM_001288592:exon5:c.A841G:p.T281A,ZKSCAN7:NM_001288590:exon6:c.A1294G:p.T432A,ZKSCAN7:NM_018651:exon6:c.A1294G:p.T432A 0.22 0.44 0.18 0.001 0.34 0.06 0.2616 0.4132 0.1347 0.0002 0.3608 0.3265 0.2759 0.0908 0.35 0.41 0.32 0.35 0.28 rs9835485 COSM1423245 1(bone);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.39 0.129 T 0.074 0.226 B 0.043 0.229 B 0.075 0.213 N 0.995 0.588 P 1.495 0.376 L 2.73 0.119 T -1.4 0.346 N 0.046 0.068 -0.922 0.453 T 0.000 0.000 T . . . 1.128 0.203 11.36 0.971 0.319 0.539 0.292 D c -0.379 -0.310 0.049 0.148 0.707 0.730 0 3.04 0.340 2.837 0.476 1.199 0.960 0.014 0.188 0.972 0.466 7.228 0.250 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000186448.10|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000144792.5|ENSG00000163807.4|ENSG00000196653.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2558 0.4150 0.1481 0.2778 0.0006 0.3654 0.3264 0.2719 0.0921 0.3387 0.4089 0.1695 0.2483 0.0006 0.3632 0.3424 0.3010 het 466.27 43 3 44611896 . A G 466.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.942;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.17;MQ0=1;MQRankSum=-1.188;QD=10.84;ReadPosRankSum=-0.682;VQSLOD=3.5166;culprit=MQ;set=variant GT:AD:DP:GQ:PL 0/1:24,19:43:99:496,0,623 3 44612050 44612050 C T exonic ZKSCAN7 nonsynonymous SNV ZKSCAN7:NM_001288592:exon5:c.C995T:p.T332I,ZKSCAN7:NM_001288590:exon6:c.C1448T:p.T483I,ZKSCAN7:NM_018651:exon6:c.C1448T:p.T483I 0.75 0.67 0.73 0.83 0.75 0.79 0.7433 0.6805 0.7523 0.8421 0.8007 0.7262 0.7555 0.7700 0.7 0.67 0.72 0.67 0.71 rs9873604 COSM5420056 1(pancreas) . . . . . . . . . . . 1.0 0.059 T 0.0 0.026 B 0.001 0.040 B 0.113 0.027 N 1 0.090 P 0.055 0.082 N 3.17 0.076 T 1.14 0.022 N 0.015 0.003 -0.976 0.360 T 0.000 0.000 T . . . -1.225 0.024 0.006 0.744 0.103 0.031 0.080 N c -1.421 -1.420 0.005 0.109 0.563 0.310 0 -1.03 0.095 -1.890 0.017 -0.208 0.100 0.000 0.063 0.032 0.149 5.453 0.158 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000144792.5|ENSG00000179152.14|ENSG00000144792.5|ENSG00000144792.5|ENSG00000144792.5|ENSG00000144792.5|ENSG00000179152.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Nerve_Tibial|Thyroid|Whole_Blood 0.7427 0.6784 0.7393 0.7454 0.8328 0.8019 0.7193 0.7404 0.7692 0.7272 0.6769 0.7351 0.7384 0.8409 0.7988 0.7264 0.7327 hom 5423.79 172 3 44612050 . C T 5423.79 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7769;MQ=58.58;MQ0=0;QD=31.53;VQSLOD=8.5034;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5423,433,0 3 44692564 44692564 C G exonic ZNF35 nonsynonymous SNV ZNF35:NM_003420:exon2:c.C5G:p.T2S 0.32 0.0076 0.3 0.79 0.14 0.43 0.2404 0.0390 0.3958 0.7981 0.2124 0.1394 0.2027 0.3813 0.11 0.039 0.14 0.18 0.17 rs2272044 COSM3760102 3(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.779 0.423 P 0.191 0.347 B . . . 0.799 0.810 P 0.895 0.225 L 2.78 0.113 T -0.47 0.678 N 0.133 0.153 -1.167 0.006 T 0.000 0.000 T . . . 5.300 0.717 25.8 0.995 0.698 0.860 0.449 D c 0.077 0.148 0.995 0.339 0.732 0.924 0 4.08 0.467 1.384 0.338 0.935 0.490 1.000 0.715 0.999 0.750 12.070 0.527 . ENSG00000186446.7|ENSG00000163815.5 Artery_Aorta|Nerve_Tibial 0.2447 0.0348 0.3728 0.1101 0.7872 0.2103 0.1372 0.1832 0.3740 0.1625 0.0341 0.3397 0.1233 0.8019 0.2010 0.1474 0.2031 het 1061.23 66 3 44692564 . C G 1061.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.533;DP=66;Dels=0.00;FS=2.161;HRun=0;HaplotypeScore=1.9940;MQ=58.08;MQ0=0;MQRankSum=-0.489;QD=16.08;ReadPosRankSum=-0.185;VQSLOD=4.1844;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,41:66:99:1091,0,632 3 44775962 44775962 A G exonic ZNF501 nonsynonymous SNV ZNF501:NM_001258280:exon3:c.A49G:p.M17V,ZNF501:NM_145044:exon3:c.A49G:p.M17V 0.7 0.61 0.66 0.88 0.6 0.74 0.6203 0.6114 0.6825 0.8908 0.5667 0.5562 0.6184 0.7209 0.58 0.63 0.56 0.59 0.54 rs4682752 COSM4999207 1(pancreas) . . . . . . . . . . . 0.032 0.446 D 0.0 0.026 B 0.0 0.013 B . . . 0.917 0.274 P 0.88 0.216 L 1.14 0.384 T 0.53 0.028 N 0.086 0.098 -1.003 0.291 T 0.000 0.000 T . . . 1.429 0.235 12.94 0.838 0.144 0.046 0.101 N c -0.793 -0.846 0.876 0.255 0.651 0.465 0 2.39 0.284 1.738 0.376 0.883 0.387 0.002 0.151 0.267 0.231 9.991 0.409 . ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000163807.4|ENSG00000163807.4|ENSG00000163807.4|ENSG00000163807.4|ENSG00000196653.7|ENSG00000163807.4|ENSG00000196653.7|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000163807.4|ENSG00000163807.4|ENSG00000163807.4|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000196653.7|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.6206 0.6107 0.6671 0.6627 0.8860 0.5597 0.5478 0.6192 0.7207 0.5860 0.6068 0.6483 0.7020 0.9031 0.5625 0.5395 0.5832 het 1281.17 110 3 44775962 . A G 1281.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.544;DP=110;Dels=0.00;FS=6.170;HRun=0;HaplotypeScore=1.9150;MQ=59.45;MQ0=0;MQRankSum=1.181;QD=11.65;ReadPosRankSum=-0.786;VQSLOD=5.3341;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,56:110:99:1311,0,1343 3 44871505 44871505 A T exonic KIF15 nonsynonymous SNV KIF15:NM_020242:exon25:c.A2986T:p.T996S 0.063 0.016 0.084 . 0.22 0.016 0.1497 0.0381 0.0697 0 0.2843 0.2162 0.1752 0.0291 0.15 0.045 0.21 0.054 0.17 rs11710339 COSM3760103 1(large_intestine) . . . . . . . . . . . 0.424 0.097 T 0.0 0.026 B 0.009 0.133 B 0.500 0.119 N 1.000 0.090 P 1.615 0.415 L 1.02 0.407 T 0.34 0.038 N 0.014 0.002 -0.994 0.317 T 0.000 0.000 T . . . -0.056 0.088 2.081 0.821 0.136 0.153 0.187 N c -1.016 -0.977 0.782 0.238 0.732 0.924 0 -4.04 0.037 0.114 0.152 1.121 0.882 0.866 0.305 0.923 0.397 6.545 0.215 . ENSG00000163807.4|ENSG00000186448.10|ENSG00000196653.7|ENSG00000163807.4|ENSG00000186448.10|ENSG00000144792.5 Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Lung|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.1486 0.0336 0.0701 0.1572 6.224e-05 0.2840 0.2107 0.1614 0.0284 0.1612 0.0390 0.1005 0.1333 0 0.2782 0.2242 0.2045 het 1417.65 199 3 44871505 . A T 1417.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.557;DP=199;Dels=0.00;FS=2.650;HRun=0;HaplotypeScore=5.5220;MQ=58.47;MQ0=0;MQRankSum=0.006;QD=7.12;ReadPosRankSum=-1.000;VQSLOD=3.6867;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:131,68:199:99:1448,0,3154 3 44884647 44884647 C A exonic KIF15 nonsynonymous SNV KIF15:NM_020242:exon30:c.C3616A:p.L1206M 0.53 0.16 0.53 0.85 0.52 0.71 0.5201 0.2198 0.5696 0.8398 0.5003 0.4809 0.5220 0.6731 0.39 0.21 0.48 0.33 0.49 rs3804583 COSM3760104 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.307 0.141 T 0.053 0.211 B 0.021 0.181 B 0.421 0.129 N 0.494 0.318 P 1.455 0.369 L -0.46 0.700 T -0.47 0.152 N 0.355 0.416 -0.985 0.339 T 0.000 0.000 T . . . 2.759 0.393 21.1 0.995 0.684 0.713 0.347 D c -0.239 -0.115 0.434 0.204 0.707 0.730 0 3.52 0.393 0.620 0.239 -0.055 0.122 0.881 0.308 0.901 0.381 9.700 0.392 . ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186446.7|ENSG00000163807.4|ENSG00000196653.7|ENSG00000163807.4|ENSG00000196653.7|ENSG00000163807.4|ENSG00000196653.7|ENSG00000196653.7|ENSG00000196653.7|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000196653.7|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5260 0.2115 0.5537 0.5669 0.8327 0.4979 0.4760 0.5137 0.6717 0.4229 0.2159 0.5478 0.5927 0.8496 0.5052 0.4642 0.4786 het 728.85 62 3 44884647 . C A 728.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.444;DP=62;Dels=0.00;FS=3.461;HRun=0;HaplotypeScore=0.8321;MQ=59.40;MQ0=0;MQRankSum=-0.218;QD=11.76;ReadPosRankSum=-1.514;VQSLOD=6.2403;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,30:62:99:759,0,858 3 44929287 44929287 G C exonic TGM4 nonsynonymous SNV TGM4:NM_003241:exon3:c.G300C:p.E100D 0.43 0.16 0.43 0.82 0.29 0.54 0.3792 0.1778 0.4781 0.8312 0.3745 0.3035 0.3576 0.5061 0.25 0.18 0.29 0.4 0.35 rs2271087 COSM3760106 1(bone);1(large_intestine) . . . . . . . . . . . 0.04 0.421 D 0.339 0.484 B 0.179 0.489 B 0.169 0.174 U 1.000 0.090 P 0.9 0.233 L -1.6 0.822 D -1.5 0.366 N 0.068 0.055 -0.957 0.398 T 0.000 0.000 T . . . 1.869 0.285 15.40 0.985 0.421 0.237 0.219 N c -0.422 -0.550 1.000 0.500 0.554 0.283 0 1.43 0.215 2.533 0.451 0.712 0.302 0.992 0.373 0.228 0.223 6.276 0.201 Immunoglobulin E-set|Immunoglobulin-like fold|Transglutaminase\x2c N-terminal ENSG00000163807.4|ENSG00000163810.7|ENSG00000163807.4|ENSG00000163815.5|ENSG00000075914.8 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Nerve_Tibial|Testis 0.3804 0.1726 0.4571 0.2980 0.8269 0.3684 0.2958 0.3369 0.4994 0.3076 0.1740 0.4403 0.3467 0.8459 0.3524 0.3049 0.3635 hom 2305.13 82 3 44929287 . G C 2305.13 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.54;MQ0=0;QD=28.11;VQSLOD=7.9507;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2338,196,0 3 44943069 44943069 C T exonic TGM4 synonymous SNV TGM4:NM_003241:exon7:c.C711T:p.Y237Y 0.57 0.52 0.51 0.8 0.4 0.61 0.4992 0.5010 0.5463 0.8287 0.4747 0.4278 0.4673 0.5900 0.45 0.5 0.42 0.64 0.43 rs1995640 COSM3760107 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4912 0.4937 0.5239 0.4080 0.8267 0.4636 0.4200 0.4496 0.5780 0.4757 0.4890 0.5060 0.4371 0.8432 0.4590 0.4319 0.4633 hom 1599.21 50 3 44943069 . C T 1599.21 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9662;MQ=59.00;MQ0=0;QD=31.98;VQSLOD=8.3710;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1632,132,0 3 44943389 44943389 G A exonic TGM4 nonsynonymous SNV TGM4:NM_003241:exon8:c.G937A:p.E313K 0.56 0.47 0.51 0.8 0.4 0.6 0.4899 0.4616 0.5416 0.8266 0.4616 0.4223 0.4604 0.5815 0.43 0.46 0.42 0.62 0.46 rs1995641 COSM3760108 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.466 0.086 T 0.582 0.370 P 0.13 0.313 B 0.102 0.198 N 1 0.090 P -0.63 0.021 N 0.73 0.507 T -1.86 0.435 N 0.033 0.013 -1.000 0.299 T 0.000 0.000 T . . . 0.241 0.117 5.105 0.687 0.085 0.040 0.093 N c -1.113 -1.222 0.943 0.275 0.516 0.203 0 -3.6 0.043 0.414 0.207 -0.492 0.052 0.152 0.235 0.003 0.074 8.341 0.312 Transglutaminase-like ENSG00000186446.7|ENSG00000163815.5|ENSG00000163810.7 Artery_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.4880 0.4626 0.5233 0.4055 0.8240 0.4609 0.4195 0.4478 0.5753 0.4657 0.4577 0.5072 0.4338 0.8379 0.4559 0.4313 0.4582 hom 4374.88 139 3 44943389 . G A 4374.88 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9995;MQ=59.60;MQ0=0;QD=31.47;VQSLOD=9.3745;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4374,337,0 3 44948479 44948479 C T exonic TGM4 nonsynonymous SNV TGM4:NM_003241:exon10:c.C1114T:p.R372C 0.67 0.67 0.58 0.89 0.45 0.76 0.5714 0.6515 0.6183 0.9026 0.4793 0.4779 0.5385 0.7309 0.53 0.65 0.47 0.7 0.51 rs3749195 COSM3760109 1(skin);2(large_intestine) . . . . . . . . . . . 0.001 0.784 D 0.98 0.574 D 0.427 0.435 B 0.295 0.147 U 0.596 0.310 P 2.885 0.838 M 1.94 0.227 T -5.95 0.891 D 0.193 0.236 -1.079 0.074 T 0.000 0.000 T . . . 4.165 0.558 23.8 0.964 0.292 0.062 0.120 N c -0.260 -0.496 0.999 0.370 0.497 0.185 0 2.03 0.256 -0.754 0.049 -0.152 0.108 0.000 0.063 0.003 0.074 9.088 0.356 Transglutaminase-like ENSG00000163815.5|ENSG00000163810.7|ENSG00000075914.8 Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.5674 0.6558 0.6019 0.4417 0.9024 0.4810 0.4796 0.5157 0.7288 0.5603 0.6509 0.5967 0.4868 0.9093 0.4831 0.4906 0.5092 hom 4000.28 117 3 44948479 . C T 4000.28 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3639;MQ=59.41;MQ0=0;QD=34.19;VQSLOD=8.9720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:117:99:3961,310,0 3 44948590 44948590 G A exonic TGM4 nonsynonymous SNV TGM4:NM_003241:exon10:c.G1225A:p.V409I 0.62 0.47 0.57 0.88 0.45 0.76 0.5521 0.4663 0.6085 0.8972 0.4791 0.4752 0.5242 0.7271 0.47 0.46 0.47 0.65 0.52 rs9876921 COSM3760110 1(large_intestine) . . . . . . . . . . . 0.26 0.165 T 0.002 0.090 B 0.002 0.063 B 0.145 0.029 N 1 0.090 P -0.235 0.039 N -1.26 0.792 T -0.32 0.123 N 0.027 0.009 -0.961 0.389 T 0.000 0.000 T . . . -1.795 0.011 0.002 0.669 0.079 0.003 0.014 N c -2.181 -2.244 1.000 0.747 0.516 0.203 0 -4.07 0.037 -0.564 0.060 -3.687 0.001 0.000 0.063 0.000 0.016 2.458 0.042 Transglutaminase-like ENSG00000163812.9|ENSG00000163815.5|ENSG00000075914.8 Esophagus_Mucosa|Nerve_Tibial|Testis 0.5517 0.4688 0.5915 0.4178 0.8973 0.4809 0.4781 0.5027 0.7256 0.5086 0.4720 0.5861 0.4768 0.9067 0.4828 0.4897 0.4980 hom 7939.64 250 3 44948590 . G A 7939.64 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9516;MQ=59.48;MQ0=0;QD=31.76;VQSLOD=7.6925;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7939,626,0 3 44974433 44974433 A C exonic ZDHHC3 nonsynonymous SNV ZDHHC3:NM_001349376:exon6:c.T660G:p.H220Q,ZDHHC3:NM_016598:exon6:c.T660G:p.H220Q,ZDHHC3:NM_001349378:exon7:c.T438G:p.H146Q 0.0082 . 0.016 . 0.027 0.0031 0.0179 0.0058 0.0072 0 0.0082 0.0273 0.0143 0.0087 0.022 0.0059 0.03 . 0.016 rs3087823 . . . . . . . . . . . . . 0.216 0.192 T 0.0 0.026 B 0.002 0.063 B 0.706 0.100 N 1 0.090 N . . . 1.22 0.370 T -0.46 0.150 N 0.031 0.012 -1.046 0.155 T 0.021 0.087 T . . . -0.921 0.035 0.023 0.676 0.082 0.039 0.092 N c -1.296 -1.452 1.000 0.747 0.707 0.730 0 -9.79 0.004 -0.264 0.086 0.191 0.249 0.000 0.063 0.401 0.254 11.527 0.497 Zinc finger\x2c DHHC-type\x2c palmitoyltransferase . . 0.0171 0.0050 0.0076 0.0226 0.0001 0.0083 0.0279 0.0130 0.0089 0.0166 0.0048 0.0072 0.0464 0 0.0069 0.0277 0.0132 het 1431.12 141 3 44974433 . A C 1431.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.423;DP=141;Dels=0.00;FS=3.204;HRun=1;HaplotypeScore=0.8941;MQ=58.64;MQ0=0;MQRankSum=0.433;QD=10.15;ReadPosRankSum=-0.357;VQSLOD=5.8019;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,59:141:99:1461,0,1979 3 45017782 45017782 A G exonic EXOSC7 nonsynonymous SNV EXOSC7:NM_015004:exon1:c.A13G:p.T5A 0.047 0.014 0.068 0.023 0.089 0.059 0.0915 0.0274 0.0702 0.0344 0.1107 0.1100 0.1221 0.0912 0.07 0.025 0.093 0.022 0.057 rs11547235 COSM4158048 2(thyroid) . . . . . . . . . . . 0.812 0.030 T 0.0 0.026 B 0.0 0.013 B 0.812 0.092 N 1 0.090 N -0.205 0.041 N 1.03 0.405 T 0.39 0.035 N 0.017 0.004 -1.045 0.158 T 0.002 0.005 T . . . -0.369 0.064 0.458 0.744 0.103 0.004 0.021 N c -1.359 -1.261 1.000 0.747 0.468 0.091 2 -1.32 0.087 -0.470 0.067 -0.370 0.067 0.846 0.301 0.611 0.291 1.303 0.019 Ribosomal protein S5 domain 2-type fold ENSG00000075914.8|ENSG00000075914.8 Cells_Transformed_fibroblasts|Thyroid 0.0775 0.0182 0.0578 0.1288 0.0264 0.0720 0.0918 0.0864 0.0747 0.0699 0.0243 0.0656 0.1258 0.0342 0.0766 0.0971 0.0786 het 422.05 27 3 45017782 . A G 422.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.803;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.39;MQ0=0;MQRankSum=-1.106;QD=15.63;ReadPosRankSum=0.283;VQSLOD=5.7598;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,18:27:99:452,0,179 3 45052775 45052775 G C exonic EXOSC7 nonsynonymous SNV EXOSC7:NM_015004:exon8:c.G820C:p.V274L 0.71 0.73 0.62 0.9 0.48 0.76 0.5940 0.6857 0.6312 0.8937 0.5023 0.5071 0.5744 0.7410 0.57 0.68 0.51 0.74 0.55 rs6794 COSM5021390 1(bone) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1 0.090 P -3.09 0.000 N 1.32 0.352 T 2.48 0.002 N 0.092 0.146 -0.979 0.352 T 0.000 0.000 T . . . -1.532 0.016 0.002 0.554 0.052 0.065 0.124 N c -1.923 -1.675 1.000 0.747 0.731 0.878 0 2.93 0.329 0.995 0.291 -0.326 0.075 0.457 0.264 0.015 0.124 4.791 0.125 Exoribonuclease\x2c phosphorolytic domain 2 ENSG00000163812.9|ENSG00000163815.5|ENSG00000163810.7|ENSG00000075914.8 Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.5911 0.6880 0.6198 0.5166 0.8931 0.5052 0.5077 0.5515 0.7395 0.5873 0.6903 0.6256 0.5596 0.8974 0.4994 0.5168 0.5286 hom 2261.53 76 3 45052775 . G C 2261.53 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8824;MQ=60.00;MQ0=0;QD=29.76;VQSLOD=7.4340;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2295,172,0 3 45077123 45077123 G A exonic CLEC3B nonsynonymous SNV CLEC3B:NM_001308394:exon3:c.G190A:p.G64S,CLEC3B:NM_003278:exon3:c.G316A:p.G106S 0.56 0.4 0.51 0.86 0.38 0.7 0.4854 0.3998 0.5485 0.8627 0.4291 0.4013 0.4512 0.6599 0.4 0.39 0.41 0.56 0.41 rs13963 COSM3760111 1(liver);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.702 0.046 T 0.099 0.241 B 0.101 0.292 B 0.002 0.367 N 0.373 0.338 P -0.04 0.050 N 2.23 0.181 T 0.46 0.031 N 0.064 0.049 -1.081 0.072 T 0.000 0.000 T . . . 0.909 0.181 10.13 0.900 0.187 0.660 0.327 D c -0.807 -0.679 1.000 0.409 0.583 0.331 0 -0.054 0.131 1.513 0.352 0.135 0.219 1.000 0.715 0.640 0.296 8.708 0.333 C-type lectin|C-type lectin fold|C-type lectin-like ENSG00000163815.5|ENSG00000075914.8|ENSG00000075914.8 Esophagus_Mucosa|Testis|Thyroid 0.4863 0.4003 0.5351 0.3432 0.8618 0.4310 0.4039 0.4333 0.6589 0.4362 0.3989 0.5323 0.3974 0.8629 0.4204 0.4115 0.4281 het 1352.61 100 3 45077123 . G A 1352.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.218;DP=100;Dels=0.00;FS=4.983;HRun=0;HaplotypeScore=2.6432;MQ=58.41;MQ0=0;MQRankSum=1.395;QD=13.53;ReadPosRankSum=0.504;VQSLOD=5.2222;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,53:100:99:1383,0,1352 3 45127515 45127515 T C exonic CDCP1 nonsynonymous SNV CDCP1:NM_022842:exon9:c.A2126G:p.D709G 0.93 0.75 0.97 1. 1. 1. 0.9792 0.7842 0.9876 1 1 0.9981 0.9934 0.9998 0.93 0.79 1. 0.9 0.95 rs9874077 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.009 0.308 N 1 0.090 P -2.175 0.001 N 2.05 0.207 T 2.43 0.003 N 0.059 0.043 -0.955 0.401 T 0.000 0.000 T . . . -0.273 0.070 0.765 0.124 0.002 0.081 0.139 N c -1.211 -0.979 1.000 0.747 0.732 0.924 0 5.82 0.927 0.459 0.215 0.069 0.176 0.573 0.273 0.727 0.316 11.353 0.487 . . . 0.9828 0.7772 0.9864 0.9895 1 1 0.9985 0.9854 0.9998 0.9380 0.7851 0.9833 1 1 1 0.9989 0.9847 hom 5426.37 158 3 45127515 . T C 5426.37 Mask AC=2;AF=1.00;AN=2;DP=158;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=34.34;VQSLOD=9.6724;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:5426,424,0 3 45134822 45134822 T C exonic CDCP1 nonsynonymous SNV CDCP1:NM_022842:exon6:c.A1574G:p.Q525R 0.73 0.55 0.76 0.96 0.63 0.83 0.7036 0.5654 0.8406 0.9779 0.6948 0.6430 0.7042 0.7990 0.62 0.57 0.64 0.75 0.65 rs3749191 . . . . . . . . . . . . . 0.518 0.073 T 0.0 0.026 B 0.001 0.040 B 0.323 0.041 N 1 0.090 P 1.7 0.440 L 1.94 0.227 T -0.13 0.090 N 0.016 0.003 -0.919 0.457 T 0.000 0.000 T . . . -1.128 0.027 0.009 0.798 0.125 0.069 0.128 N c -1.200 -1.233 1.000 0.416 0.732 0.924 0 -1.14 0.092 -0.263 0.086 -0.702 0.037 0.000 0.063 0.144 0.203 0.489 0.005 . . . 0.7091 0.5600 0.8262 0.6569 0.9790 0.6942 0.6367 0.6869 0.7979 0.6497 0.5630 0.7990 0.6424 0.9797 0.6907 0.6434 0.6996 het 1997.65 160 3 45134822 . T C 1997.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.465;DP=160;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=10.1267;MQ=58.99;MQ0=0;MQRankSum=-1.036;QD=12.49;ReadPosRankSum=-0.654;VQSLOD=3.9209;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,80:160:99:2028,0,2196 3 45153708 45153708 G A exonic CDCP1 synonymous SNV CDCP1:NM_022842:exon3:c.C522T:p.I174I,CDCP1:NM_178181:exon3:c.C522T:p.I174I 0.14 0.13 0.16 0.046 0.19 0.17 0.1616 0.1172 0.1607 0.0466 0.1506 0.1841 0.2037 0.1615 0.15 0.11 0.18 0.13 0.13 rs35501071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1620 0.1146 0.1674 0.1953 0.0475 0.1514 0.1827 0.1704 0.1643 0.1511 0.1124 0.1695 0.2 0.0389 0.1537 0.1827 0.1571 het 2653.65 209 3 45153708 . G A 2653.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.160;DP=209;Dels=0.00;FS=3.291;HRun=1;HaplotypeScore=3.0842;MQ=59.69;MQ0=0;MQRankSum=0.440;QD=12.70;ReadPosRankSum=0.575;VQSLOD=5.9404;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,93:209:99:2684,0,3062 3 45527218 45527218 T C exonic LARS2 synonymous SNV LARS2:NM_015340:exon11:c.T1053C:p.L351L 0.78 0.34 0.91 0.98 0.94 0.93 0.9026 0.4198 0.9478 0.9770 0.9702 0.9460 0.8998 0.9335 0.77 0.44 0.95 0.73 0.93 rs7610357 . . Benign not_specified RCV000217249.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9133 0.4102 0.9468 0.8857 0.9785 0.9724 0.9485 0.9134 0.9298 0.8035 0.4164 0.9390 0.8974 0.9790 0.9717 0.9521 0.9358 hom 7372.05 240 3 45527218 . T C 7372.05 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=240;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4791;MQ=59.01;MQ0=0;MQRankSum=0.202;QD=30.72;ReadPosRankSum=1.458;VQSLOD=8.9849;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,239:240:99:7371,563,0 3 45533224 45533224 G A exonic LARS2 synonymous SNV LARS2:NM_015340:exon13:c.G1455A:p.A485A 0.78 0.34 0.91 0.98 0.94 0.93 0.9025 0.4195 0.9478 0.9771 0.9702 0.9459 0.8998 0.9334 0.77 0.44 0.95 0.73 0.93 rs2128361 COSM4158050 1(thyroid) Benign not_specified RCV000215318.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9135 0.4105 0.9468 0.8853 0.9787 0.9724 0.9485 0.9132 0.9298 0.8035 0.4166 0.9391 0.8974 0.9784 0.9716 0.9521 0.9356 hom 3789.18 120 3 45533224 . G A 3789.18 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.67;MQ0=0;QD=31.58;VQSLOD=9.5260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3789,307,0 3 45559519 45559519 T C exonic LARS2 synonymous SNV LARS2:NM_015340:exon18:c.T2169C:p.A723A 0.85 0.49 0.95 1. 0.99 0.97 0.9515 0.5572 0.9736 0.9995 1 0.9938 0.9670 0.9676 0.85 0.58 0.99 0.77 0.95 rs2170549 COSM5619441 1(breast) Benign not_specified RCV000219077.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9597 0.5514 0.9729 0.9483 0.9996 1 0.9963 0.9673 0.9662 0.8707 0.5534 0.9737 0.9801 1 1 0.9964 0.9673 hom 3204.77 104 3 45559519 . T C 3204.77 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=59.00;MQ0=0;QD=30.82;VQSLOD=8.9304;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3238,271,0 3 45565554 45565554 A G exonic LARS2 synonymous SNV LARS2:NM_015340:exon20:c.A2358G:p.V786V 0.86 0.53 0.95 1. 1. 0.97 0.9575 0.5934 0.9787 0.9995 1 0.9982 0.9780 0.9677 0.87 0.62 1. 0.78 0.98 rs267220 . . Benign not_specified RCV000223098.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9655 0.5897 0.9774 0.9957 0.9996 1 0.9979 0.9748 0.9663 0.8839 0.5962 0.9773 0.9967 1 1 0.9979 0.9735 hom 4799.32 157 3 45565554 . A G 4799.32 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.41;MQ0=0;QD=30.57;VQSLOD=9.4478;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:4799,364,0 3 45637253 45637253 C T exonic LIMD1 synonymous SNV LIMD1:NM_014240:exon1:c.C882T:p.T294T 0.69 0.59 0.65 0.93 0.55 0.72 0.6245 0.5847 0.7219 0.9384 0.6054 0.5625 0.6126 0.6755 0.58 0.6 0.57 0.62 0.65 rs267237 COSM446566 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6294 0.5824 0.7089 0.5648 0.9396 0.6121 0.5635 0.5785 0.6730 0.6102 0.5790 0.6935 0.5828 0.9457 0.5928 0.5913 0.6173 het 1820.09 132 3 45637253 . C T 1820.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.146;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6574;MQ=59.22;MQ0=0;MQRankSum=1.262;QD=13.79;ReadPosRankSum=0.475;VQSLOD=5.8910;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,67:132:99:1850,0,1789 3 45637439 45637439 T C exonic LIMD1 synonymous SNV LIMD1:NM_014240:exon1:c.T1068C:p.G356G 0.74 0.72 0.69 0.93 0.59 0.74 0.6653 0.7101 0.7409 0.9385 0.6359 0.6046 0.6449 0.6991 0.66 0.72 0.62 0.69 0.67 rs267236 COSM4158052 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6679 0.7079 0.7301 0.5893 0.9398 0.6410 0.6085 0.6196 0.6963 0.6736 0.6993 0.7189 0.6126 0.9456 0.6236 0.6405 0.6599 het 1141.43 114 3 45637439 . T C 1141.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.663;DP=114;Dels=0.00;FS=8.489;HRun=1;HaplotypeScore=0.8667;MQ=59.47;MQ0=0;MQRankSum=-0.211;QD=10.01;ReadPosRankSum=0.763;VQSLOD=4.6301;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,43:114:99:1171,0,1929 3 45779136 45779136 A T exonic SACM1L nonsynonymous SNV SACM1L:NM_001319072:exon14:c.A1118T:p.Y373F,SACM1L:NM_014016:exon15:c.A1301T:p.Y434F,SACM1L:NM_001319073:exon16:c.A992T:p.Y331F 0.55 0.65 0.57 0.4 0.68 0.41 0.6017 0.6385 0.5120 0.3902 0.6696 0.6636 0.5947 0.4751 0.65 0.63 0.66 0.49 0.52 rs1468542 COSM149368 1(stomach);3(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.040 B 0.000 0.843 D 0.000 0.530 P -0.655 0.021 N 2.0 0.215 T 1.19 0.014 N 0.125 0.356 -0.985 0.339 T 0.000 0.000 T . . . 1.306 0.221 12.30 0.498 0.042 0.974 0.741 D c -0.306 -0.003 1.000 0.747 0.707 0.730 0 6.06 0.983 5.791 0.685 1.199 0.960 1.000 0.715 0.997 0.653 16.613 0.847 SAC domain ENSG00000244357.2|ENSG00000244357.2|ENSG00000211456.6|ENSG00000211456.6 Muscle_Skeletal|Nerve_Tibial|Thyroid|Whole_Blood 0.6013 0.6387 0.5151 0.7014 0.3937 0.6597 0.6590 0.6333 0.4682 0.6311 0.6326 0.5489 0.7252 0.4071 0.6803 0.6466 0.6166 het 999.87 88 3 45779136 . A T 999.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.775;DP=88;Dels=0.00;FS=0.843;HRun=3;HaplotypeScore=0.0000;MQ=58.98;MQ0=0;MQRankSum=-0.054;QD=11.36;ReadPosRankSum=-1.529;VQSLOD=6.0267;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,40:88:99:1030,0,1171 3 45817418 45817418 A G exonic SLC6A20 synonymous SNV SLC6A20:NM_020208:exon4:c.T417C:p.C139C,SLC6A20:NM_022405:exon4:c.T417C:p.C139C 0.95 0.97 0.98 0.91 0.95 0.93 0.9565 0.9693 0.9638 0.9148 0.9459 0.9601 0.9637 0.9546 0.96 0.97 0.96 0.92 0.96 rs758386 . . Likely benign Hyperglycinuria RCV000311879.1 MedGen:OMIM C0543541:138500 Immune reponse to smallpox (secreted TNF-alpha) . . 22610502 rs758386 2E-7 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9567 0.9709 0.9644 0.9838 0.9125 0.9509 0.9578 0.9641 0.9567 0.9568 0.9709 0.9737 0.9801 0.9251 0.9513 0.9532 0.9357 hom 6650.59 208 3 45817418 . A G 6650.59 Mask AC=2;AF=1.00;AN=2;DP=208;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=59.67;MQ0=0;QD=31.97;VQSLOD=9.3793;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,208:208:99:6649,554,0 3 45996761 45996761 G A exonic FYCO1 synonymous SNV FYCO1:NM_024513:exon14:c.C3924T:p.L1308L 0.87 0.9 0.84 0.95 0.74 0.88 0.7921 0.8841 0.8697 0.9579 0.7640 0.7303 0.8051 0.8530 0.77 0.87 0.72 0.87 0.62 rs1463680 . . Benign|Benign not_specified|Congenital_cataract RCV000249848.1|RCV000334516.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7915 0.8841 0.8615 0.7889 0.9593 0.7649 0.7211 0.7848 0.8517 0.7802 0.8743 0.8449 0.7550 0.9716 0.7447 0.7118 0.7526 hom 7681.96 230 3 45996761 . G A 7681.96 Mask AC=2;AF=1.00;AN=2;DP=230;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=59.35;MQ0=0;QD=33.40;VQSLOD=9.4590;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7681,605,0 3 46007823 46007823 G T exonic FYCO1 nonsynonymous SNV FYCO1:NM_024513:exon8:c.C3003A:p.N1001K 0.11 0.0053 0.059 0.004 0.12 0.36 0.1263 0.0182 0.0572 0.0030 0.1459 0.1170 0.1311 0.3370 0.0009 . 0.0014 . 0.066 rs13079478 . . Benign|Benign not_specified|Congenital_cataract RCV000253960.1|RCV000370197.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . 0.098 0.308 T 0.014 0.156 B 0.013 0.154 B 0.030 0.254 N 1 0.090 P 1.39 0.351 L -1.32 0.798 T -0.93 0.264 N 0.033 0.013 -1.103 0.038 T 0.002 0.006 T . . . 0.770 0.167 9.274 0.966 0.300 0.223 0.215 N c -0.888 -0.791 1.000 0.480 0.563 0.310 0 1.44 0.215 0.322 0.192 -0.097 0.117 0.046 0.210 0.830 0.347 3.533 0.073 . ENSG00000172215.5 Artery_Aorta 0.1257 0.0164 0.0610 0.1876 0.0029 0.1458 0.1112 0.1165 0.3388 0.0851 0.0174 0.0561 0.1291 0.0012 0.1294 0.1218 0.1176 het 1382.01 105 3 46007823 . G T 1382.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.336;DP=105;Dels=0.00;FS=0.733;HRun=2;HaplotypeScore=1.8835;MQ=58.66;MQ0=0;MQRankSum=0.336;QD=13.16;ReadPosRankSum=-2.477;VQSLOD=5.0547;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,53:105:99:1412,0,1397 3 46007825 46007825 T C exonic FYCO1 nonsynonymous SNV FYCO1:NM_024513:exon8:c.A3001G:p.N1001D 0.11 0.019 0.063 0.004 0.12 0.36 0.1289 0.0305 0.0611 0.0030 0.1462 0.1190 0.1355 0.3371 0.0058 0.0091 0.0041 0.011 0.049 rs13059238 . . Benign|Benign not_specified|Congenital_cataract RCV000249183.1|RCV000330739.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.030 0.254 N 1 0.090 P -1.14 0.009 N -1.28 0.794 T 0.49 0.035 N 0.011 0.001 -1.093 0.051 T 0.002 0.005 T . . . -0.642 0.048 0.098 0.417 0.030 0.055 0.113 N c -1.116 -0.972 1.000 0.489 0.563 0.310 0 2.29 0.275 0.912 0.280 -0.328 0.075 0.024 0.198 0.787 0.332 4.077 0.093 . ENSG00000172215.5 Artery_Aorta 0.1282 0.0286 0.0647 0.2006 0.0029 0.1458 0.1124 0.1225 0.3390 0.0890 0.0295 0.0644 0.1391 0.0012 0.1289 0.1223 0.1196 het 1186.58 103 3 46007825 . T C 1186.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.171;DP=103;Dels=0.00;FS=4.900;HRun=0;HaplotypeScore=2.8624;MQ=58.64;MQ0=0;MQRankSum=0.208;QD=11.52;ReadPosRankSum=-2.088;VQSLOD=4.7974;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,50:103:99:1217,0,1406 3 46008087 46008087 G A exonic FYCO1 synonymous SNV FYCO1:NM_024513:exon8:c.C2739T:p.C913C 0.11 0.0076 0.06 0.004 0.12 0.36 0.1271 0.0207 0.0577 0.0030 0.1474 0.1175 0.1330 0.3370 0.081 0.025 0.11 0.065 0.066 rs13079869 COSM4158058 1(thyroid) Benign|Benign not_specified|Congenital_cataract RCV000244760.1|RCV000280102.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1260 0.0187 0.0614 0.1879 0.0030 0.1465 0.1114 0.1173 0.3384 0.0863 0.0194 0.0561 0.1291 0.0012 0.1294 0.1230 0.1202 het 1331.95 120 3 46008087 . G A 1331.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.327;DP=120;Dels=0.00;FS=2.420;HRun=0;HaplotypeScore=3.6609;MQ=59.30;MQ0=0;MQRankSum=1.338;QD=11.10;ReadPosRankSum=-0.269;VQSLOD=6.1095;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,55:120:99:1362,0,1792 3 46009487 46009487 G A exonic FYCO1 nonsynonymous SNV FYCO1:NM_024513:exon8:c.C1339T:p.R447C 0.11 0.017 0.059 0.005 0.12 0.36 0.1276 0.0295 0.0574 0.0030 0.1470 0.1173 0.1311 0.3374 0.083 0.031 0.11 0.065 0.066 rs33910087 COSM5880567 1(soft_tissue) Benign|Benign not_specified|Congenital_cataract RCV000251621.1|RCV000290339.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . 0.048 0.400 D 0.712 0.523 P 0.216 0.386 B 0.577 0.055 N 1 0.090 P 1.175 0.300 L 2.03 0.215 T -2.1 0.478 N 0.094 0.094 -1.045 0.157 T 0.000 0.001 T . . . 0.301 0.123 5.702 0.924 0.212 0.206 0.209 N c -0.899 -1.087 1.000 0.747 0.707 0.730 0 -5.38 0.025 -0.816 0.045 -0.418 0.060 0.000 0.063 0.001 0.043 0.960 0.013 . ENSG00000172215.5 Artery_Aorta 0.1267 0.0278 0.0615 0.1878 0.0030 0.1466 0.1116 0.1172 0.3390 0.0891 0.0288 0.0585 0.1291 0.0012 0.1294 0.1231 0.1207 het 4493.50 250 3 46009487 . G A 4493.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.824;DP=250;DS;Dels=0.00;FS=5.600;HRun=0;HaplotypeScore=5.4608;MQ=59.56;MQ0=0;MQRankSum=0.273;QD=17.97;ReadPosRankSum=0.712;VQSLOD=3.4447;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:121,129:250:99:3788,0,3116 3 46009491 46009491 C T exonic FYCO1 synonymous SNV FYCO1:NM_024513:exon8:c.G1335A:p.L445L 0.16 0.033 0.15 0.29 0.21 0.16 0.1829 0.0642 0.1384 0.2839 0.1740 0.2043 0.1843 0.1529 0.15 0.067 0.2 0.15 0.19 rs3796376 COSM3760118 3(haematopoietic_and_lymphoid_tissue);1(large_intestine);1(biliary_tract) Benign|Benign not_specified|Congenital_cataract RCV000246478.1|RCV000328833.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1827 0.0601 0.1444 0.2032 0.2866 0.1712 0.2029 0.2001 0.1525 0.1577 0.0611 0.1639 0.2033 0.2791 0.1907 0.1908 0.1755 het 4287.15 250 3 46009491 . C T 4287.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.076;DP=250;DS;Dels=0.00;FS=0.502;HRun=0;HaplotypeScore=8.4580;MQ=59.56;MQ0=0;MQRankSum=0.724;QD=17.15;ReadPosRankSum=-0.893;VQSLOD=3.1100;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,122:250:99:3561,0,4046 3 46009864 46009864 C G exonic FYCO1 nonsynonymous SNV FYCO1:NM_024513:exon8:c.G962C:p.G321A 0.53 0.21 0.64 0.67 0.56 0.73 0.5670 0.2422 0.6877 0.6783 0.6134 0.5445 0.6024 0.6991 0.44 0.25 0.54 0.4 0.48 rs3733100 COSM4158060 1(thyroid) Benign|Benign not_specified|Congenital_cataract RCV000242928.1|RCV000352891.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.486 N 1.000 0.090 P -1.78 0.003 N 2.22 0.182 T 1.69 0.006 N 0.035 0.015 -0.946 0.417 T 0.000 0.000 T . . . -0.599 0.050 0.126 0.074 0.000 0.048 0.104 N c -1.276 -1.015 1.000 0.747 0.707 0.730 0 3.84 0.433 2.487 0.447 -0.275 0.085 0.853 0.302 0.447 0.262 7.651 0.273 . ENSG00000163820.10|ENSG00000172215.5|ENSG00000163823.3 Muscle_Skeletal|Muscle_Skeletal|Whole_Blood 0.5781 0.2329 0.6773 0.5949 0.6744 0.6211 0.5377 0.5732 0.6988 0.4699 0.2393 0.6504 0.5497 0.6943 0.5737 0.5377 0.5667 het 1315.25 132 3 46009864 . C G 1315.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.559;DP=132;Dels=0.00;FS=13.530;HRun=2;HaplotypeScore=4.2030;MQ=59.29;MQ0=0;MQRankSum=-0.753;QD=9.96;ReadPosRankSum=0.324;VQSLOD=3.3394;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,51:132:99:1345,0,2404 3 46010007 46010007 T C exonic FYCO1 synonymous SNV FYCO1:NM_024513:exon8:c.A819G:p.Q273Q 0.11 0.02 0.063 0.004 0.12 0.36 0.1290 0.0305 0.0610 0.0030 0.1465 0.1191 0.1358 0.3375 0.085 0.031 0.11 0.076 0.066 rs13071283 COSM4158061 1(thyroid) Benign|Benign not_specified|Congenital_cataract RCV000251552.1|RCV000365307.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1283 0.0286 0.0647 0.2007 0.0030 0.1461 0.1127 0.1229 0.3393 0.0899 0.0294 0.0644 0.1391 0.0012 0.1294 0.1237 0.1222 het 1190.16 104 3 46010007 . T C 1190.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.375;DP=104;Dels=0.00;FS=0.755;HRun=0;HaplotypeScore=1.5592;MQ=59.56;MQ0=0;MQRankSum=0.605;QD=11.44;ReadPosRankSum=-1.490;VQSLOD=6.1523;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,41:104:99:1220,0,1736 3 46010077 46010077 C T exonic FYCO1 nonsynonymous SNV FYCO1:NM_024513:exon8:c.G749A:p.R250Q 0.93 0.98 0.91 1. 0.8 0.92 0.8468 0.9561 0.9305 0.9997 0.8064 0.7852 0.8667 0.9035 0.83 0.94 0.77 0.95 0.74 rs4683158 . . Benign|Benign not_specified|Congenital_cataract RCV000246802.1|RCV000325885.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . 0.374 0.132 T 0.0 0.026 B 0.0 0.013 B 0.000 0.481 N 1.000 0.090 P -2.67 0.000 N 2.24 0.179 T 1.62 0.006 N 0.079 0.071 -0.966 0.380 T 0.000 0.000 T . . . 4.402 0.589 24.1 0.994 0.619 0.410 0.263 N c -0.899 -0.556 1.000 0.747 0.719 0.830 0 5.45 0.796 2.162 0.418 0.090 0.195 1.000 0.715 0.788 0.332 10.127 0.416 . ENSG00000163820.10|ENSG00000163820.10|ENSG00000163820.10|ENSG00000163820.10|ENSG00000173578.6|ENSG00000163820.10 Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.8463 0.9578 0.9257 0.8459 0.9995 0.8098 0.7757 0.8430 0.9015 0.8396 0.9525 0.9115 0.8311 0.9994 0.7859 0.7674 0.8078 hom 3015.10 97 3 46010077 . C T 3015.10 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4888;MQ=59.33;MQ0=0;QD=31.08;VQSLOD=8.8012;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3048,235,0 3 46021218 46021218 G T exonic FYCO1 synonymous SNV FYCO1:NM_024513:exon4:c.C267A:p.R89R 0.76 0.38 0.87 1. 0.8 0.92 0.7989 0.4337 0.9088 0.9997 0.8062 0.7838 0.8414 0.9027 0.66 0.44 0.77 0.75 0.69 rs4682801 . . Benign|Benign not_specified|Congenital_cataract RCV000252557.1|RCV000337740.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8085 0.4229 0.9026 0.8455 0.9995 0.8088 0.7743 0.8183 0.9006 0.6898 0.4278 0.8866 0.8311 0.9994 0.7845 0.7665 0.7837 hom 5822.26 181 3 46021218 . G T 5822.26 Mask AC=2;AF=1.00;AN=2;DP=181;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5779;MQ=59.66;MQ0=0;QD=32.17;VQSLOD=9.4792;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5821,481,0 3 46063329 46063329 T C exonic XCR1 synonymous SNV XCR1:NM_001024644:exon2:c.A111G:p.L37L,XCR1:NM_005283:exon3:c.A111G:p.L37L 0.23 0.44 0.091 0.047 0.12 0.35 0.1646 0.4031 0.0725 0.0525 0.1464 0.1169 0.1443 0.3390 0.21 0.4 0.11 0.25 0.098 rs2230322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1562 0.4056 0.0774 0.1871 0.0532 0.1453 0.1115 0.1348 0.3399 0.1962 0.3951 0.0730 0.1291 0.0484 0.1284 0.1242 0.1421 het 1346.93 86 3 46063329 . T C 1346.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.535;DP=86;Dels=0.00;FS=1.775;HRun=0;HaplotypeScore=0.8321;MQ=58.80;MQ0=0;MQRankSum=-1.265;QD=15.66;ReadPosRankSum=1.491;VQSLOD=5.2876;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,48:86:99:1377,0,1071 3 46399208 46399208 G A exonic CCR2 nonsynonymous SNV CCR2:NM_001123041:exon2:c.G190A:p.V64I,CCR2:NM_001123396:exon2:c.G190A:p.V64I 0.15 0.17 0.21 0.21 0.086 0.098 0.1267 0.1610 0.2391 0.2070 0.0652 0.1020 0.1090 0.1097 0.11 0.16 0.092 0.17 0.14 rs1799864 COSM3760120;COSM3760119 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other Human_immunodeficiency_virus_type_1\x2c_susceptibility_to RCV000008756.2 MedGen:OMIM C1836230:609423 . . . . . . 0.327 0.157 T 0.079 0.276 B 0.129 0.312 B 0.089 0.204 N 1.000 0.090 P 0.775 0.195 N -0.42 0.695 T -0.48 0.162 N 0.241 0.295 -1.092 0.052 T 0.000 0.000 T . . . 0.990 0.189 10.60 0.976 0.344 0.562 0.298 D c -0.419 -0.346 1.000 0.462 0.554 0.283 0 1.62 0.227 1.125 0.307 0.154 0.240 0.760 0.290 0.655 0.299 4.619 0.117 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1263 0.1625 0.2301 0.1244 0.2055 0.0662 0.0944 0.1253 0.1109 0.1205 0.1579 0.2201 0.0960 0.1917 0.0754 0.0971 0.1100 het 3004.32 228 3 46399208 . G A 3004.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.699;DP=228;Dels=0.00;FS=5.667;HRun=0;HaplotypeScore=8.9838;MQ=58.93;MQ0=1;MQRankSum=0.304;QD=13.18;ReadPosRankSum=-0.747;VQSLOD=3.6123;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,109:228:99:3034,0,2936 3 46449978 46449978 A C exonic CCRL2 synonymous SNV CCRL2:NM_001130910:exon2:c.A444C:p.G148G,CCRL2:NM_003965:exon2:c.A408C:p.G136G 0.34 0.048 0.37 0.56 0.4 0.41 0.3794 0.0823 0.3487 0.5463 0.3388 0.4011 0.3989 0.4176 0.3 0.086 0.4 0.28 0.38 rs11266744 COSM3760121 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3824 0.0787 0.3535 0.4372 0.5513 0.3359 0.4000 0.4235 0.4153 0.3039 0.0882 0.3604 0.4371 0.5923 0.3266 0.3857 0.3320 het 2007.44 163 3 46449978 . A C 2007.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.982;DP=163;Dels=0.00;FS=1.230;HRun=0;HaplotypeScore=10.3919;MQ=59.49;MQ0=0;MQRankSum=1.233;QD=12.32;ReadPosRankSum=-1.317;VQSLOD=3.6193;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,73:163:99:2037,0,2380 3 46450070 46450070 T A exonic CCRL2 nonsynonymous SNV CCRL2:NM_001130910:exon2:c.T536A:p.F179Y,CCRL2:NM_003965:exon2:c.T500A:p.F167Y 0.35 0.088 0.38 0.56 0.4 0.41 0.3800 0.1237 0.3506 0.5471 0.3334 0.3967 0.3967 0.4159 0.31 0.13 0.39 0.29 0.37 rs3204849 COSM3760122 10(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.25 0.586 T 0.706 0.401 P 0.142 0.388 B 0.122 0.027 N 1 0.090 P 2.3 0.659 M 1.16 0.381 T -1.25 0.320 N 0.351 0.412 -1.010 0.271 T 0.000 0.000 T . . . 0.472 0.139 7.214 0.695 0.087 0.173 0.196 N c -1.105 -1.338 1.000 0.747 0.539 0.216 0 -7.81 0.011 0.213 0.172 -0.706 0.037 0.000 0.063 0.000 0.016 3.534 0.073 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3825 0.1199 0.3543 0.4342 0.5515 0.3318 0.3958 0.4210 0.4138 0.3117 0.1251 0.3592 0.4437 0.5914 0.3223 0.3812 0.3313 het 1700.66 141 3 46450070 . T A 1700.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.663;DP=141;Dels=0.00;FS=1.329;HRun=0;HaplotypeScore=4.7697;MQ=59.07;MQ0=0;MQRankSum=-0.151;QD=12.06;ReadPosRankSum=1.170;VQSLOD=4.8728;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,67:141:99:1731,0,1975 3 46480801 46480801 A G exonic LTF synonymous SNV LTF:NM_001199149:exon15:c.T1762C:p.L588L,LTF:NM_001321121:exon15:c.T1888C:p.L630L,LTF:NM_002343:exon15:c.T1894C:p.L632L,LTF:NM_001321122:exon18:c.T1855C:p.L619L 0.52 0.65 0.4 0.63 0.31 0.54 0.3998 0.5857 0.4015 0.6587 0.3838 0.2940 0.3918 0.5850 0.38 0.58 0.28 0.53 0.32 rs9110 COSM3722437 1(cervix);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3908 0.5913 0.3857 0.3301 0.6481 0.3724 0.2858 0.3546 0.5701 0.4102 0.5882 0.3708 0.3079 0.6446 0.3614 0.2990 0.3778 het 2549.94 201 3 46480801 . A G 2549.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.614;DP=201;Dels=0.00;FS=4.117;HRun=0;HaplotypeScore=7.4673;MQ=59.26;MQ0=0;MQRankSum=0.367;QD=12.69;ReadPosRankSum=0.979;VQSLOD=4.4699;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,99:201:99:2580,0,2592 3 46484964 46484964 G A exonic LTF synonymous SNV LTF:NM_001199149:exon13:c.C1491T:p.N497N,LTF:NM_001321121:exon13:c.C1617T:p.N539N,LTF:NM_002343:exon13:c.C1623T:p.N541N,LTF:NM_001321122:exon16:c.C1584T:p.N528N 0.45 0.41 0.3 0.64 0.34 0.52 0.3691 0.3917 0.2449 0.6774 0.3939 0.3076 0.3822 0.5184 0.33 0.4 0.3 0.41 0.31 rs1042073 COSM4419595 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3646 0.3901 0.2487 0.3581 0.6747 0.3870 0.3017 0.3488 0.5215 0.3627 0.3811 0.2673 0.3278 0.6832 0.3812 0.3186 0.3694 het 2415.05 238 3 46484964 . G A 2415.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.397;DP=238;DS;Dels=0.00;FS=2.238;HRun=0;HaplotypeScore=3.9919;MQ=58.92;MQ0=0;MQRankSum=-0.529;QD=10.15;ReadPosRankSum=-1.621;VQSLOD=5.2642;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:143,95:238:99:2445,0,3738 3 46490366 46490366 G A exonic LTF synonymous SNV LTF:NM_001199149:exon9:c.C1068T:p.I356I,LTF:NM_001321121:exon9:c.C1200T:p.I400I,LTF:NM_002343:exon9:c.C1200T:p.I400I,LTF:NM_001321122:exon12:c.C1161T:p.I387I 0.16 0.19 0.22 0.2 0.08 0.12 0.1223 0.1770 0.2102 0.2209 0.1024 0.0897 0.1378 0.1130 0.12 0.18 0.085 0.11 0.14 rs2230895 COSM3760123 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1235 0.1744 0.2154 0.1561 0.2155 0.0982 0.0812 0.1147 0.1105 0.1261 0.1684 0.2220 0.1093 0.2149 0.0980 0.0945 0.1094 het 745.20 48 3 46490366 . G A 745.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.117;DP=48;Dels=0.00;FS=1.146;HRun=1;HaplotypeScore=1.5777;MQ=59.22;MQ0=0;MQRankSum=-0.229;QD=15.52;ReadPosRankSum=0.561;VQSLOD=6.5701;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,27:48:99:775,0,519 3 46490474 46490474 G A exonic LTF synonymous SNV LTF:NM_001199149:exon9:c.C960T:p.V320V,LTF:NM_001321121:exon9:c.C1092T:p.V364V,LTF:NM_002343:exon9:c.C1092T:p.V364V,LTF:NM_001321122:exon12:c.C1053T:p.V351V 0.22 0.2 0.27 0.2 0.16 0.28 0.1948 0.1903 0.2467 0.2277 0.2222 0.1617 0.2068 0.2642 0.17 0.19 0.16 0.17 0.15 rs2230894 COSM4158062 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1951 0.1862 0.2550 0.1932 0.2247 0.2114 0.1534 0.1719 0.2605 0.1834 0.1821 0.2476 0.1391 0.2239 0.2 0.1728 0.1881 het 539.17 36 3 46490474 . G A 539.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.191;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=0.936;QD=14.98;ReadPosRankSum=0.416;VQSLOD=6.8638;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,19:36:99:569,0,362 3 46501213 46501213 T C exonic LTF nonsynonymous SNV LTF:NM_001199149:exon2:c.A8G:p.K3R,LTF:NM_001321121:exon2:c.A140G:p.K47R,LTF:NM_002343:exon2:c.A140G:p.K47R,LTF:NM_001321122:exon5:c.A101G:p.K34R 0.63 0.96 0.49 0.65 0.35 0.53 0.4371 0.8732 0.4108 0.6846 0.4018 0.3224 0.4176 0.5309 0.5 0.86 0.32 0.63 0.34 rs1126478 COSM3760124 13(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.396 0.128 T 0.0 0.026 B 0.002 0.063 B 0.652 0.105 N 1 0.090 P 0.315 0.103 N 1.32 0.352 T -0.97 0.281 N 0.019 0.196 -1.061 0.114 T 0.000 0.000 T . . . -2.534 0.003 0.001 0.726 0.097 0.009 0.034 N c -2.075 -2.186 1.000 0.747 0.615 0.372 0 -9.66 0.004 -2.403 0.011 -0.746 0.035 0.000 0.063 0.001 0.043 6.321 0.203 Transferrin-like domain . . 0.4097 0.8749 0.4044 0.3676 0.6654 0.3947 0.3071 0.3815 0.5182 0.5146 0.8652 0.4284 0.3444 0.6892 0.3876 0.3356 0.4160 het 906.84 81 3 46501213 . T C 906.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.841;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5324;MQ=57.47;MQ0=0;MQRankSum=0.668;QD=11.20;ReadPosRankSum=-0.014;VQSLOD=4.9503;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,33:81:99:937,0,1351 3 46501268 46501268 C T exonic LTF nonsynonymous SNV LTF:NM_001321121:exon2:c.G85A:p.A29T,LTF:NM_002343:exon2:c.G85A:p.A29T,LTF:NM_001321122:exon5:c.G46A:p.A16T 0.47 0.77 0.42 0.42 0.26 0.37 0.3331 0.7067 0.3647 0.4298 0.2621 0.2508 0.3307 0.3829 0.4 0.7 0.24 0.42 0.3 rs1126477 COSM3760125 12(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.004 0.163 B 0.006 0.139 B 0.265 0.152 N 1 0.090 P -0.855 0.015 N 2.51 0.340 T 1.81 0.011 N 0.021 0.095 -0.982 0.345 T 0.000 0.000 T . . . -1.788 0.011 0.002 0.136 0.003 0.001 0.009 N c -2.291 -2.274 0.889 0.258 0.554 0.283 0 -3.58 0.043 -1.849 0.018 -1.289 0.014 0.000 0.063 0.001 0.043 12.804 0.568 Transferrin-like domain . . 0.3408 0.7181 0.4170 0.3643 0.4685 0.2652 0.2580 0.3379 0.4026 0.5249 0.7476 0.4822 0.4524 0.5782 0.3546 0.3859 0.4516 het 657.02 48 3 46501268 . C T 657.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.524;DP=48;Dels=0.00;FS=2.700;HRun=0;HaplotypeScore=1.6483;MQ=56.63;MQ0=0;MQRankSum=-0.695;QD=13.69;ReadPosRankSum=-1.016;VQSLOD=3.6365;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,26:48:99:687,0,579 3 46501284 46501284 - CTT exonic LTF nonframeshift insertion LTF:NM_001321121:exon2:c.68_69insAAG:p.R23_S24insR,LTF:NM_002343:exon2:c.68_69insAAG:p.R23_S24insR,LTF:NM_001321122:exon5:c.29_30insAAG:p.R10_S11insR 0.99 1. 0.98 1. 0.97 1. 0.9813 0.9946 0.9888 0.9998 0.9814 0.9728 0.9856 0.9926 0.98 0.99 0.97 0.63 . rs55665884 COSM5713079 4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9805 0.9943 0.9867 0.9887 0.9998 0.9829 0.9710 0.9799 0.9927 0.9804 0.9944 0.9880 0.9901 1 0.9817 0.9692 0.9816 hom 2497.56 42 3 46501284 . C CCTT 2497.56 Mask AC=2;AF=1.00;AN=2;DP=42;FS=0.000;HRun=0;HaplotypeScore=193.9642;MQ=56.95;MQ0=0;QD=59.47;set=variant2 GT:AD:DP:GQ:PL 1/1:3,38:42:99:2540,117,0 3 46580591 46580591 G T exonic LRRC2 nonsynonymous SNV LRRC2:NM_024512:exon4:c.C434A:p.A145E 0.29 0.12 0.26 0.28 0.37 0.45 0.3377 0.1467 0.2139 0.3009 0.4672 0.3510 0.3579 0.4572 0.27 0.15 0.34 0.25 0.3 rs17078944 . . . . . . . . . . . . . 0.767 0.034 T 0.002 0.090 B 0.002 0.063 B 0.252 0.155 N 1 0.090 P 0.83 0.210 L 0.96 0.429 T 1.24 0.010 N 0.066 0.058 -0.923 0.451 T 0.000 0.000 T . . . 0.677 0.159 8.676 0.713 0.093 0.447 0.271 N c -0.579 -0.466 1.000 0.747 0.447 0.086 2 1.79 0.239 2.911 0.482 1.048 0.713 0.996 0.391 0.984 0.507 6.035 0.188 Leucine-rich repeat domain\x2c L domain-like ENSG00000241186.3|ENSG00000241186.3|ENSG00000163827.8|ENSG00000241186.3|ENSG00000163827.8|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Testis 0.3374 0.1433 0.2132 0.3098 0.3091 0.4644 0.3485 0.3466 0.4595 0.3024 0.1557 0.2321 0.2881 0.3073 0.4449 0.3542 0.3661 het 1217.71 132 3 46580591 . G T 1217.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.721;DP=132;Dels=0.00;FS=2.328;HRun=0;HaplotypeScore=1.9961;MQ=59.40;MQ0=0;MQRankSum=-1.248;QD=9.23;ReadPosRankSum=0.867;VQSLOD=5.0988;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,49:132:99:1248,0,2078 3 46620614 46620614 T C exonic TDGF1 nonsynonymous SNV TDGF1:NM_001174136:exon2:c.T17C:p.V6A,TDGF1:NM_003212:exon2:c.T65C:p.V22A 0.51 0.49 0.49 0.42 0.55 0.59 0.5243 0.4915 0.4178 0.4113 0.5230 0.5455 0.5 0.5948 0.52 0.49 0.53 0.46 0.42 rs11130097 COSM3760126 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.277 0.150 N 1.000 0.090 P -0.895 0.014 N 0.21 0.600 T 1.26 0.010 N 0.033 0.016 -0.925 0.449 T 0.000 0.000 T . . . -1.764 0.012 0.002 0.713 0.093 0.002 0.014 N c -1.597 -1.505 1.000 0.747 0.628 0.401 0 1.43 0.215 -0.221 0.091 -0.337 0.073 0.000 0.063 0.013 0.120 6.691 0.222 . ENSG00000241186.3|ENSG00000241186.3|ENSG00000163827.8|ENSG00000241186.3|ENSG00000163827.8|ENSG00000163827.8|ENSG00000163827.8|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000268324.1|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000268324.1|ENSG00000163827.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Testis|Testis|Testis 0.5177 0.4916 0.4298 0.4657 0.4067 0.5188 0.5467 0.5374 0.5957 0.5103 0.4906 0.4379 0.4735 0.4215 0.5164 0.5341 0.5184 het 2182.91 210 3 46620614 . T C 2182.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.742;DP=210;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6208;MQ=58.71;MQ0=0;MQRankSum=-1.834;QD=10.39;ReadPosRankSum=-0.363;VQSLOD=5.1490;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:122,87:210:99:2213,0,3033 3 46723551 46723551 G A exonic ALS2CL synonymous SNV ALS2CL:NM_001190707:exon11:c.C1143T:p.H381H,ALS2CL:NM_147129:exon11:c.C1143T:p.H381H 0.31 0.097 0.41 0.34 0.42 0.4 0.4006 0.1580 0.4480 0.3610 0.4498 0.4268 0.4135 0.4103 0.34 0.16 0.43 0.18 0.28 rs4683310 COSM4158065 1(bone);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4042 0.1473 0.4365 0.4345 0.3653 0.4477 0.4249 0.4032 0.4023 0.3491 0.1637 0.4315 0.4667 0.3772 0.4356 0.4211 0.4384 het 670.16 50 3 46723551 . G A 670.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.355;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8410;MQ=59.07;MQ0=0;MQRankSum=-0.401;QD=13.40;ReadPosRankSum=0.322;VQSLOD=6.5890;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,28:50:99:700,0,560 3 46751074 46751076 AAG - exonic TMIE nonframeshift deletion TMIE:NM_147196:exon4:c.367_369del:p.K131del 0.75 0.84 0.77 0.66 0.72 0.76 0.6205 0.7096 0.6254 0.5955 0.7236 0.6185 0.6227 0.5439 . . . . . rs869283685 COSM4589991 18(upper_aerodigestive_tract);6(central_nervous_system) Benign not_specified RCV000041234.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6146 0.7097 0.5979 0.5634 0.5668 0.7032 0.6125 0.5922 0.5470 0.7384 0.8240 0.7552 0.7407 0.6507 0.6931 0.7058 0.7275 hom 5088.39 191 3 46751073 . TAAG T 5088.39 Mask AC=2;AF=1.00;AN=2;DP=191;DS;FS=0.000;HRun=0;HaplotypeScore=800.3187;MQ=59.82;MQ0=0;QD=26.64;set=variant2 GT:AD:DP:GQ:PL 1/1:62,126:191:99:5088,386,0 3 46755937 46755937 C T exonic PRSS50 synonymous SNV PRSS50:NM_013270:exon4:c.G525A:p.T175T 0.38 0.7 0.29 0.27 0.16 0.36 0.2773 0.6227 0.3636 0.2814 0.2741 0.1807 0.2322 0.3574 0.29 0.58 0.15 0.48 0.098 rs12492868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2366 0.6170 0.3103 0.2016 0.2349 0.2256 0.1459 0.2056 0.3262 0.2917 0.5951 0.2959 0.1722 0.2270 0.2297 0.1455 0.1975 het 411.19 37 3 46755937 . C T 411.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.533;DP=37;Dels=0.00;FS=10.272;HRun=0;HaplotypeScore=0.9159;MQ=59.38;MQ0=0;MQRankSum=0.259;QD=11.11;ReadPosRankSum=-1.966;VQSLOD=3.4448;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,17:37:99:441,0,528 3 46759010 46759010 T G exonic PRSS50 nonsynonymous SNV PRSS50:NM_013270:exon2:c.A224C:p.Q75P 0.31 0.6 0.25 0.26 0.089 0.24 0.1701 0.5162 0.3004 0.2422 0.0922 0.0844 0.1317 0.2005 0.22 0.5 0.081 0.26 0.057 rs34788938 COSM4002702 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(pancreas) . . . . . . . . . . . 0.008 0.586 D 0.838 0.444 P 0.278 0.385 B 0.127 0.028 N 1 0.090 P 1.04 0.263 L -2.48 0.891 D -0.68 0.195 N 0.138 0.163 -1.020 0.237 T 0.000 0.000 T . . . 2.809 0.399 21.4 0.982 0.387 0.028 0.074 N c -0.646 -0.785 0.019 0.131 0.653 0.483 0 2.16 0.265 0.031 0.135 0.961 0.567 0.000 0.063 0.004 0.083 5.878 0.180 . . . 0.1661 0.5270 0.2824 0.1096 0.2354 0.1001 0.0817 0.1296 0.1989 0.2199 0.5133 0.2661 0.0728 0.2282 0.1009 0.0834 0.1286 het 976.81 92 3 46759010 . T G 976.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.555;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5624;MQ=59.34;MQ0=0;MQRankSum=1.422;QD=10.62;ReadPosRankSum=0.314;VQSLOD=5.4305;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,41:92:99:1007,0,1470 3 46783959 46783959 T C exonic PRSS45 nonsynonymous SNV PRSS45:NM_199183:exon4:c.A568G:p.I190V 0.26 0.53 0.18 0.12 0.14 0.23 0.1816 0.4661 0.1285 0.0997 0.1907 0.1478 0.1826 0.2251 0.23 0.41 0.14 0.28 . rs58830807 COSM4158070 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.098 0.200 N 1 0.588 P . . . -2.28 0.875 D 0.75 0.020 N 0.039 0.040 -1.047 0.153 T 0.000 0.000 T . . . -2.160 0.006 0.001 0.611 0.065 0.006 0.027 N c -1.351 -1.351 0.008 0.117 0.554 0.283 0 -0.106 0.129 -2.276 0.012 -1.288 0.014 0.000 0.063 0.071 0.176 9.715 0.392 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000261603.1|ENSG00000261603.1|ENSG00000206549.8|ENSG00000188086.8|ENSG00000261603.1|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000178038.12|ENSG00000188086.8|ENSG00000188086.8|ENSG00000178038.12|ENSG00000261603.1|ENSG00000188086.8|ENSG00000188086.8 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Vagina 0.1732 0.4649 0.1243 0.1908 0.0980 0.1895 0.1415 0.1595 0.2241 0.2370 0.4659 0.1355 0.1788 0.0884 0.1947 0.1405 0.1772 het 2145.54 180 3 46783959 . T C 2145.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.444;DP=180;Dels=0.00;FS=8.866;HRun=0;HaplotypeScore=5.1849;MQ=58.71;MQ0=0;MQRankSum=0.531;QD=11.92;ReadPosRankSum=-0.357;VQSLOD=4.3980;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,86:180:99:2176,0,2490 3 46784467 46784467 G A exonic PRSS45 nonsynonymous SNV PRSS45:NM_199183:exon3:c.C389T:p.P130L 0.26 0.53 0.18 0.12 0.14 0.23 0.1829 0.4674 0.1284 0.0993 0.1905 0.1484 0.1868 0.2335 0.23 0.42 0.14 0.27 . rs58943210 COSM3760129 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.311 0.139 T 0.001 0.067 B 0.004 0.093 B 0.055 0.021 N 1.000 0.182 P . . . -2.51 0.893 D -1.62 0.389 N 0.083 0.077 -1.042 0.166 T 0.000 0.000 T . . . -0.914 0.035 0.024 0.474 0.038 0.005 0.024 N c -1.311 -1.419 0.094 0.162 0.554 0.283 0 -4.4 0.033 -1.442 0.025 -1.344 0.013 0.000 0.063 0.000 0.016 6.078 0.190 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000261603.1|ENSG00000261603.1|ENSG00000206549.8|ENSG00000188086.8|ENSG00000261603.1|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000178038.12|ENSG00000188086.8|ENSG00000188086.8|ENSG00000178038.12|ENSG00000261603.1|ENSG00000188086.8|ENSG00000188086.8 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Vagina 0.1730 0.4648 0.1241 0.1906 0.0978 0.1892 0.1413 0.1595 0.2238 0.2365 0.4648 0.1364 0.1788 0.0886 0.1947 0.1407 0.1752 het 1068.21 69 3 46784467 . G A 1068.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.711;DP=69;Dels=0.00;FS=3.770;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;MQRankSum=-1.081;QD=15.48;ReadPosRankSum=-1.265;VQSLOD=5.4420;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,41:69:99:1098,0,814 3 46944274 46944274 T C exonic PTH1R synonymous SNV PTH1R:NM_001184744:exon14:c.T1389C:p.N463N,PTH1R:NM_000316:exon15:c.T1389C:p.N463N 0.64 0.82 0.65 0.44 0.64 0.6 0.6141 0.8020 0.5694 0.4540 0.6174 0.6215 0.6211 0.5807 0.68 0.8 0.62 0.7 0.58 rs1138518 COSM149372 1(stomach) Benign|Benign Chondrodysplasia|Metaphyseal_chondrodysplasia RCV000288818.1|RCV000404246.1 Human_Phenotype_Ontology:MedGen HP:0005871:CN005173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6079 0.8151 0.5700 0.5707 0.4531 0.6224 0.6231 0.6180 0.5791 0.6623 0.8090 0.5514 0.56 0.4384 0.6252 0.6196 0.6388 het 1479.19 144 3 46944274 . T C 1479.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.534;DP=144;Dels=0.00;FS=1.304;HRun=0;HaplotypeScore=4.7485;MQ=58.81;MQ0=0;MQRankSum=1.024;QD=10.27;ReadPosRankSum=0.963;VQSLOD=5.6070;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,65:144:99:1509,0,1985 3 47018214 47018214 T C exonic CCDC12 synonymous SNV CCDC12:NM_001277074:exon1:c.A9G:p.A3A,CCDC12:NM_144716:exon2:c.A48G:p.A16A 0.94 0.79 0.98 1. 1. 1. 0.9832 0.8170 0.9916 0.9997 1 0.9989 0.9895 1 0.94 0.81 1. 0.9 0.84 rs936181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9866 0.8082 0.9916 0.9951 0.9999 1.0000 0.9990 0.9911 0.9999 0.9461 0.8114 0.9905 0.9934 1 1 0.9993 0.9959 hom 560.82 23 3 47018214 . T C 560.82 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;QD=24.38;VQSLOD=7.8997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:48.13:594,48,0 3 47036756 47036756 C G exonic NBEAL2 nonsynonymous SNV NBEAL2:NM_015175:exon13:c.C1531G:p.R511G 0.32 0.2 0.31 0.34 0.39 0.37 0.4381 0.2787 0.3658 0.4076 0.4752 0.4762 0.4035 0.4306 0.31 0.2 0.36 0.22 . rs11720139 COSM446600;COSM446599 1(liver);1(large_intestine) Benign|Benign not_specified|Gray_platelet_syndrome RCV000242367.1|RCV000279654.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0272302:139090:ORPHA721:51720005 . . . . . . 0.295 0.147 T 0.321 0.313 B 0.066 0.260 B 0.007 0.315 N 0.146 0.810 P 1.61 0.413 L 1.41 0.334 T -1.71 0.406 N 0.143 0.214 -0.910 0.469 T 0.000 0.000 T . . . 1.629 0.257 14.01 0.824 0.137 0.658 0.326 D c -0.380 -0.297 1.000 0.747 0.672 0.522 0 4.54 0.551 1.194 0.316 0.013 0.140 0.553 0.271 0.811 0.340 11.591 0.500 . ENSG00000160796.12|ENSG00000114650.14|ENSG00000160796.12|ENSG00000160796.12|ENSG00000160796.12|ENSG00000160799.7|ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000160796.12|ENSG00000114650.14 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.3598 0.2128 0.2531 0.4024 0.3107 0.3641 0.4036 0.3679 0.4092 0.3392 0.2298 0.3070 0.4305 0.3017 0.3684 0.3985 0.3663 het 245.45 22 3 47036756 . C G 245.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.854;DP=22;Dels=0.00;FS=11.974;HRun=1;HaplotypeScore=1.7172;MQ=58.95;MQ0=0;MQRankSum=0.919;QD=11.16;ReadPosRankSum=-0.131;VQSLOD=3.8491;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,11:22:99:275,0,284 3 47045739 47045739 C G exonic NBEAL2 synonymous SNV NBEAL2:NM_015175:exon37:c.C6054G:p.P2018P 0.47 0.24 0.52 0.54 0.59 0.56 0.5368 0.2796 0.5069 0.5446 0.6065 0.5703 0.5614 0.5419 0.47 0.28 0.57 0.45 . rs1079276 COSM4158076;COSM4158075 1(thyroid) Benign|Benign not_specified|Gray_platelet_syndrome RCV000248146.1|RCV000384483.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0272302:139090:ORPHA721:51720005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5406 0.2803 0.5020 0.5239 0.5474 0.6140 0.5731 0.5570 0.5397 0.4950 0.2832 0.4772 0.4934 0.5457 0.6177 0.5795 0.5818 het 2670.81 218 3 47045739 . C G 2670.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.551;DP=218;DS;Dels=0.00;FS=3.186;HRun=0;HaplotypeScore=6.7523;MQ=58.95;MQ0=0;MQRankSum=0.813;QD=12.25;ReadPosRankSum=1.053;VQSLOD=4.6035;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,108:218:99:2701,0,3103 3 47125385 47125385 G A exonic SETD2 nonsynonymous SNV SETD2:NM_001349370:exon11:c.C5753T:p.P1918L,SETD2:NM_014159:exon12:c.C5885T:p.P1962L 0.47 0.24 0.52 0.53 0.58 0.57 0.5342 0.2794 0.5059 0.5424 0.6053 0.5672 0.5617 0.5471 0.47 0.29 0.57 0.43 0.6 rs4082155 COSM149376;COSM149375 1(stomach);15(soft_tissue);5(prostate) not provided not_specified RCV000122014.1 MedGen CN169374 . . . . . . 0.311 0.139 T 0.001 0.067 B 0.002 0.063 B 0.655 0.105 N 0.090 0.364 P 0.895 0.225 L 1.98 0.219 T -0.3 0.119 N 0.195 0.239 -0.947 0.416 T 0.000 0.000 T . . . 1.276 0.218 12.14 0.939 0.234 0.565 0.299 D c -0.703 -0.512 1.000 0.747 0.731 0.878 0 2.94 0.330 0.296 0.187 0.135 0.219 0.092 0.224 0.998 0.697 5.284 0.149 . ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000160796.12|ENSG00000160796.12|ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000160796.12|ENSG00000114650.14 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.5390 0.2780 0.5007 0.5209 0.5429 0.6128 0.5701 0.5544 0.5449 0.4931 0.2820 0.4771 0.4933 0.5424 0.6158 0.5774 0.5767 het 1913.34 159 3 47125385 . G A 1913.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.235;DP=159;Dels=0.00;FS=2.072;HRun=0;HaplotypeScore=4.6235;MQ=59.74;MQ0=0;MQRankSum=-0.313;QD=12.03;ReadPosRankSum=0.905;VQSLOD=5.4528;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,70:159:99:1943,0,2638 3 47162661 47162661 A G exonic SETD2 synonymous SNV SETD2:NM_001349370:exon2:c.T3333C:p.N1111N,SETD2:NM_014159:exon3:c.T3465C:p.N1155N 0.68 0.78 0.68 0.66 0.61 0.63 0.6343 0.7569 0.7728 0.6820 0.6234 0.5953 0.6358 0.5982 0.64 0.75 0.59 0.69 0.61 rs6767907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6375 0.7676 0.7550 0.5940 0.6814 0.6317 0.5942 0.6294 0.5964 0.6568 0.7570 0.6945 0.5667 0.6937 0.6316 0.6017 0.6337 het 1754.82 157 3 47162661 . A G 1754.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.571;DP=157;Dels=0.00;FS=3.794;HRun=1;HaplotypeScore=9.4035;MQ=59.34;MQ0=0;MQRankSum=-1.488;QD=11.18;ReadPosRankSum=0.940;VQSLOD=3.4950;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:85,72:157:99:1785,0,2188 3 47282303 47282303 G A exonic KIF9 nonsynonymous SNV KIF9:NM_022342:exon16:c.C1717T:p.R573W,KIF9:NM_182902:exon17:c.C1912T:p.R638W,KIF9:NM_001134878:exon18:c.C1912T:p.R638W 0.56 0.51 0.55 0.54 0.6 0.62 0.5723 0.5191 0.5241 0.5433 0.6163 0.5839 0.5793 0.5897 0.56 0.52 0.59 0.54 0.65 rs2276853 COSM149379 1(stomach) . . . . . . . . . . . 0.031 0.546 D 0.995 0.764 D 0.785 0.557 P 0.000 0.629 D 0.909 0.328 P 2.295 0.656 M 0.57 0.544 T -4.69 0.797 D 0.213 0.536 -0.892 0.488 T 0.000 0.000 T . . . 6.724 0.919 32 0.999 0.970 0.594 0.306 D c 0.179 0.095 0.177 0.178 0.554 0.283 0 1.97 0.252 0.429 0.210 1.043 0.663 0.031 0.203 0.985 0.512 9.232 0.364 . ENSG00000114650.14|ENSG00000114650.14|ENSG00000160796.12|ENSG00000160796.12|ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000160796.12|ENSG00000114650.14 Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.5722 0.5248 0.5192 0.5271 0.5438 0.6237 0.5885 0.5775 0.5865 0.5733 0.5237 0.4904 0.4967 0.5385 0.6263 0.5973 0.6102 het 1297.19 106 3 47282303 . G A 1297.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.908;DP=106;Dels=0.00;FS=4.087;HRun=0;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;MQRankSum=1.037;QD=12.24;ReadPosRankSum=-1.328;VQSLOD=5.8265;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,51:106:99:1327,0,1379 3 47449058 47449058 T C exonic PTPN23 synonymous SNV PTPN23:NM_001304482:exon11:c.T609C:p.T203T,PTPN23:NM_015466:exon12:c.T987C:p.T329T 0.95 0.84 0.98 1. 1. 1. 0.9863 0.8567 0.9928 1 1 0.9987 0.9923 1 0.95 0.85 1. 0.85 0.9 rs900688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9889 0.8527 0.9931 0.9911 1 1 0.9990 0.9922 0.9999 0.9584 0.8548 0.9928 0.9901 1 1 0.9993 0.9959 hom 6609.12 197 3 47449058 . T C 6609.12 Mask AC=2;AF=1.00;AN=2;DP=197;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5661;MQ=58.98;MQ0=0;QD=33.55;VQSLOD=9.4853;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:6609,512,0 3 47452087 47452087 G A exonic PTPN23 synonymous SNV PTPN23:NM_001304482:exon19:c.G2421A:p.P807P,PTPN23:NM_015466:exon20:c.G2799A:p.P933P 0.95 0.84 0.98 1. 1. 1. 0.9867 0.8604 0.9935 1 1 0.9987 0.9921 1 0.95 0.86 1. 0.033 1. rs900689 COSM4158089 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9892 0.8566 0.9933 0.9911 1 1 0.9990 0.9921 0.9999 0.9600 0.8595 0.9928 0.99 1 1 0.9994 0.9959 hom 2121.63 78 3 47452087 . G A 2121.63 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;QD=27.20;VQSLOD=7.5031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2155,157,0 3 47452118 47452118 G A exonic PTPN23 nonsynonymous SNV PTPN23:NM_001304482:exon19:c.G2452A:p.A818T,PTPN23:NM_015466:exon20:c.G2830A:p.A944T 0.35 0.25 0.32 0.4 0.38 0.39 0.3708 0.2722 0.2225 0.3804 0.3734 0.3979 0.375 0.4197 0.35 0.26 0.39 . 0.36 rs6780013 COSM3760134 1(thyroid);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.313 0.144 N 1 0.090 P -0.77 0.017 N 4.31 0.024 T 0.29 0.042 N 0.022 0.005 -0.972 0.367 T 0.000 0.000 T . . . -0.951 0.034 0.020 0.696 0.087 0.010 0.036 N c -1.588 -1.609 1.000 0.500 0.732 0.924 0 -5.83 0.021 -1.215 0.031 0.121 0.210 0.000 0.063 0.018 0.130 5.811 0.176 . ENSG00000114650.14|ENSG00000271161.1|ENSG00000271161.1|ENSG00000163832.11|ENSG00000160799.7|ENSG00000114650.14|ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000160796.12|ENSG00000114650.14 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Whole_Blood 0.3627 0.2557 0.2377 0.3999 0.3814 0.3577 0.3946 0.3692 0.4183 0.3439 0.2631 0.3005 0.42 0.3756 0.3590 0.3834 0.3642 het 762.10 65 3 47452118 . G A 762.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.137;DP=65;Dels=0.00;FS=5.384;HRun=0;HaplotypeScore=4.3892;MQ=58.36;MQ0=0;MQRankSum=1.231;QD=11.72;ReadPosRankSum=-0.249;VQSLOD=5.0112;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,34:65:99:792,0,701 3 47452786 47452786 G A exonic PTPN23 synonymous SNV PTPN23:NM_001304482:exon19:c.G3120A:p.E1040E,PTPN23:NM_015466:exon20:c.G3498A:p.E1166E 0.46 0.24 0.52 0.46 0.6 0.56 0.5413 0.2822 0.5005 0.4671 0.6270 0.5899 0.5562 0.5370 0.49 0.28 0.59 0.46 0.54 rs1531875 COSM1423596 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5432 0.2751 0.4977 0.5293 0.4659 0.6299 0.5914 0.5597 0.5361 0.5033 0.2811 0.4819 0.4934 0.4622 0.6315 0.6030 0.5888 het 538.13 42 3 47452786 . G A 538.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.685;DP=42;Dels=0.00;FS=4.980;HRun=1;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;MQRankSum=-0.075;QD=12.81;ReadPosRankSum=-0.805;VQSLOD=6.1156;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,21:42:99:568,0,554 3 47454399 47454399 G A exonic PTPN23 synonymous SNV PTPN23:NM_001304482:exon24:c.G4257A:p.P1419P,PTPN23:NM_015466:exon25:c.G4635A:p.P1545P 0.95 0.84 0.98 1. 1. 1. 0.9872 0.8662 0.9929 0.9995 0.9989 0.9987 0.9926 0.9995 0.95 0.87 1. 0.89 0.16 rs6789730 COSM4158090 3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9602 0.8293 0.9350 0.9679 0.9223 0.9961 0.9798 0.9528 0.9714 0.9077 0.8071 0.9365 0.9458 0.9812 0.9173 0.9510 0.9412 hom 263.34 12 3 47454399 . G A 263.34 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=21.95;VQSLOD=5.8940;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:12:27.05:296,27,0 3 47459679 47459679 C T exonic SCAP nonsynonymous SNV SCAP:NM_001320044:exon13:c.G1627A:p.V543I,SCAP:NM_012235:exon16:c.G2392A:p.V798I 0.45 0.23 0.52 0.46 0.59 0.55 0.6294 0.3993 0.6631 0.6263 0.7408 0.6740 0.6243 0.5583 0.47 0.27 0.57 0.25 0.3 rs12487736 COSM3760135 2(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.005 0.135 B 0.003 0.121 B 0.000 0.843 D 0.023 0.399 P -1.445 0.006 N 1.61 0.284 T 0.28 0.042 N 0.069 0.075 -0.903 0.477 T 0.000 0.000 T . . . 1.238 0.214 11.95 0.812 0.131 0.381 0.257 N c -0.630 -0.418 1.000 0.747 0.672 0.522 0 3.62 0.405 3.215 0.506 0.778 0.314 1.000 0.715 0.413 0.256 3.958 0.088 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000114650.14|ENSG00000114650.14|ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000271161.1|ENSG00000160796.12|ENSG00000271161.1|ENSG00000163832.11|ENSG00000163832.11|ENSG00000114650.14|ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000160796.12|ENSG00000114650.14 Brain_Anterior_cingulate_cortex_BA24|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Whole_Blood 0.5432 0.2820 0.5013 0.5071 0.4810 0.6255 0.5924 0.5504 0.5282 0.4869 0.2646 0.4714 0.4733 0.4609 0.6181 0.5836 0.5741 het 110.33 12 3 47459679 . C T 110.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.244;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=-0.244;QD=9.19;ReadPosRankSum=0.689;VQSLOD=5.6829;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,5:12:99:140,0,180 3 47462200 47462200 T C exonic SCAP synonymous SNV SCAP:NM_001320044:exon9:c.A642G:p.G214G,SCAP:NM_012235:exon12:c.A1407G:p.G469G 0.96 0.84 0.98 1. 1. 1. 0.9867 0.8599 0.9935 1 1 0.9987 0.9922 1 0.95 0.86 1. 0.89 0.93 rs900690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9892 0.8565 0.9933 0.9910 1 1 0.9990 0.9921 0.9999 0.9593 0.8581 0.9928 0.9901 1 1 0.9993 0.9959 hom 2245.09 71 3 47462200 . T C 2245.09 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8321;MQ=59.08;MQ0=0;QD=31.62;VQSLOD=8.6572;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2278,178,0 3 47618953 47618953 C A exonic CSPG5 nonsynonymous SNV CSPG5:NM_001206942:exon2:c.G149T:p.G50V,CSPG5:NM_001206943:exon2:c.G563T:p.G188V,CSPG5:NM_001206944:exon2:c.G563T:p.G188V,CSPG5:NM_001206945:exon2:c.G149T:p.G50V,CSPG5:NM_006574:exon2:c.G563T:p.G188V 0.52 0.36 0.48 0.6 0.66 0.54 0.5948 0.3999 0.3484 0.5957 0.7527 0.6648 0.6267 0.5396 0.57 0.39 0.66 0.54 0.66 rs3732530 . . . . . . . . . . . . . 0.236 0.179 T 0.028 0.184 B 0.012 0.149 B 0.250 0.155 N 0.014 0.403 P 0.805 0.203 L 0.93 0.441 T 0.77 0.087 N 0.081 0.219 -0.980 0.350 T 0.000 0.000 T . . . 2.323 0.340 18.32 0.862 0.158 0.126 0.172 N c -0.713 -0.629 1.000 0.409 0.652 0.477 0 0.844 0.180 0.232 0.175 0.768 0.311 0.061 0.216 0.997 0.653 2.953 0.055 Chondroitin sulphate attachment ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000047849.17|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood 0.5916 0.4011 0.3688 0.5734 0.5905 0.7473 0.6697 0.5972 0.5389 0.5995 0.4041 0.4089 0.6067 0.6091 0.7609 0.6801 0.6791 het 938.63 78 3 47618953 . C A 938.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.001;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5226;MQ=59.11;MQ0=0;MQRankSum=-0.436;QD=12.03;ReadPosRankSum=0.509;VQSLOD=6.5938;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,37:78:99:969,0,1026 3 47956424 47956424 C T exonic MAP4 nonsynonymous SNV MAP4:NM_001134364:exon8:c.G1882A:p.V628I,MAP4:NM_002375:exon8:c.G1882A:p.V628I 0.39 0.56 0.4 0.28 0.3 0.35 0.3338 0.5244 0.3779 0.2847 0.2090 0.3068 0.3051 0.3689 0.39 0.53 0.31 0.36 0.29 rs1137524 COSM4828009;COSM4828010 1(cervix) . . . . . . . . . . . 0.181 0.219 T 0.137 0.351 B 0.017 0.220 B . . . 1 0.090 P 1.15 0.294 L 3.1 0.101 T -0.52 0.162 N 0.039 0.019 -0.956 0.399 T 0.000 0.000 T . . . 0.381 0.131 6.444 0.930 0.220 0.044 0.099 N c -1.085 -1.183 0.041 0.145 0.707 0.730 0 0.416 0.156 -0.077 0.113 -1.963 0.005 0.021 0.196 0.025 0.141 1.698 0.027 . ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000114646.5|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000047849.17|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000228638.1|ENSG00000047849.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3300 0.5218 0.3781 0.3819 0.2904 0.2133 0.3026 0.3415 0.3696 0.3440 0.5181 0.3711 0.3367 0.2537 0.1921 0.2910 0.2781 het 2037.36 185 3 47956424 . C T 2037.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.327;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9092;MQ=58.68;MQ0=0;MQRankSum=1.170;QD=11.01;ReadPosRankSum=0.806;VQSLOD=6.2697;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:106,79:185:99:2067,0,2701 3 47958037 47958037 G T exonic MAP4 nonsynonymous SNV MAP4:NM_001134364:exon7:c.C1280A:p.S427Y,MAP4:NM_002375:exon7:c.C1280A:p.S427Y 0.25 0.12 0.35 0.26 0.3 0.31 0.2897 0.1263 0.3562 0.2647 0.2090 0.3034 0.2737 0.3371 0.25 0.13 0.31 0.18 0.29 rs1060407 COSM4158103;COSM4158102 1(thyroid) . . . . . . . . . . . 0.001 0.784 D 0.867 0.457 P 0.374 0.419 B . . . 1 0.444 P 2.36 0.681 M 3.12 0.087 T -2.97 0.618 D 0.095 0.098 -0.903 0.477 T 0.000 0.000 T . . . 3.661 0.497 23.2 0.837 0.144 0.451 0.272 N c -0.273 -0.351 0.999 0.388 0.707 0.730 0 4.09 0.469 1.889 0.391 1.048 0.713 0.205 0.241 0.092 0.186 14.621 0.680 . ENSG00000229759.1|ENSG00000114648.7|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000228638.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000047849.17|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000232112.3|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000199476.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229453.1|ENSG00000047849.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2940 0.1213 0.3545 0.3591 0.2679 0.2131 0.3004 0.3155 0.3394 0.2294 0.1247 0.3461 0.3245 0.2323 0.1919 0.2886 0.2561 het 2151.74 189 3 47958037 . G T 2151.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.143;DP=189;Dels=0.00;FS=3.350;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;MQRankSum=1.840;QD=11.38;ReadPosRankSum=-0.619;VQSLOD=5.9333;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,85:189:99:2182,0,2832 3 48309828 48309828 C G exonic ZNF589 nonsynonymous SNV ZNF589:NM_016089:exon4:c.C647G:p.T216R 0.26 0.33 0.22 0.12 0.29 0.27 0.2685 0.3380 0.1389 0.1196 0.1987 0.2986 0.2434 0.3032 0.31 0.32 0.31 0.23 0.31 rs11718329 COSM4002717 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.773 0.033 T 0.268 0.300 B 0.034 0.212 B . . . 1 0.189 P -0.55 0.024 N 3.32 0.062 T 0.54 0.028 N 0.027 0.009 -0.926 0.447 T 0.000 0.000 T . . . -0.957 0.034 0.019 0.789 0.121 0.011 0.039 N c -1.805 -1.910 1.000 0.747 0.672 0.522 0 -2.69 0.056 -0.451 0.068 -0.982 0.023 0.000 0.063 0.001 0.043 0.105 0.000 . ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000172113.4|ENSG00000164045.7|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229453.1|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000232112.3|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000232112.3|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229453.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000177479.15|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000047849.17|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229453.1|ENSG00000228638.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2638 0.3339 0.1544 0.3908 0.1208 0.1971 0.2990 0.2757 0.3066 0.2692 0.3328 0.1826 0.3609 0.1083 0.1947 0.2723 0.2316 het 1768.96 127 3 48309828 . C G 1768.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.477;DP=127;Dels=0.00;FS=2.616;HRun=1;HaplotypeScore=5.3442;MQ=59.52;MQ0=0;MQRankSum=-0.407;QD=13.93;ReadPosRankSum=0.962;VQSLOD=4.7432;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:63,64:127:99:1799,0,1721 3 48360992 48360992 T G exonic SPINK8 nonsynonymous SNV SPINK8:NM_001080525:exon3:c.A234C:p.K78N 0.17 0.032 0.18 0.12 0.28 0.28 0.2411 0.0627 0.1189 0.1214 0.1979 0.2913 0.2178 0.3102 0.23 0.06 0.3 0.12 . rs11718350 . . . . . . . . . . . . . 0.227 0.185 T 0.818 0.437 P 0.305 0.395 B . . . 1.000 0.090 P . . . -0.91 0.750 T -1.09 0.283 N 0.039 0.019 -1.083 0.067 T 0.000 0.000 T . . . 2.905 0.410 21.9 0.987 0.448 0.022 0.064 N c -0.459 -0.573 0.996 0.346 0.487 0.133 0 2.39 0.284 0.261 0.181 1.049 0.752 0.001 0.137 0.939 0.413 6.984 0.237 Kazal domain ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000228638.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000213672.3|ENSG00000228638.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000172113.4|ENSG00000164045.7|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229453.1|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000232112.3|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000232112.3|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229453.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000047849.17|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229453.1|ENSG00000228638.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2392 0.0586 0.1347 0.3319 0.1225 0.1958 0.2931 0.2536 0.3123 0.1891 0.0606 0.1639 0.3179 0.1097 0.1944 0.2682 0.2178 het 914.77 66 3 48360992 . T G 914.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.522;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.30;MQ0=0;MQRankSum=0.792;QD=13.86;ReadPosRankSum=2.209;VQSLOD=5.9901;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,30:66:99:945,0,940 3 48419897 48419897 C T exonic FBXW12 nonsynonymous SNV FBXW12:NM_001159929:exon5:c.C439T:p.R147W,FBXW12:NM_207102:exon6:c.C496T:p.R166W 0.62 0.6 0.62 0.66 0.53 0.69 0.5907 0.6033 0.6389 0.6604 0.6045 0.5476 0.6278 0.6786 0.55 0.6 0.53 0.67 0.48 rs6442117 COSM4999203 2(pancreas) . . . . . . . . . . . 0.025 0.473 D 0.616 0.379 P 0.011 0.145 B 0.000 0.004 N 1 0.090 P 0 0.065 N 1.51 0.634 T -0.95 0.273 N 0.073 0.114 -0.944 0.421 T 0.000 0.000 T . . . -0.402 0.061 0.383 0.810 0.130 0.002 0.010 N c -1.913 -2.062 1.000 0.443 0.554 0.246 0 -8.47 0.008 -2.410 0.011 -3.120 0.001 0.000 0.063 0.000 0.016 0.454 0.005 Quinoprotein amine dehydrogenase\x2c beta chain-like|WD40/YVTN repeat-like-containing domain;WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000229759.1|ENSG00000164045.7|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000232112.3|ENSG00000232112.3|ENSG00000229759.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000244380.1|ENSG00000229759.1|ENSG00000244380.1|ENSG00000229759.1|ENSG00000232112.3|ENSG00000229759.1|ENSG00000244380.1|ENSG00000229759.1|ENSG00000232112.3|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164054.11|ENSG00000164053.13|ENSG00000164050.8|ENSG00000229759.1|ENSG00000164049.10|ENSG00000229759.1|ENSG00000164048.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid 0.5905 0.6048 0.6260 0.5284 0.6618 0.6094 0.5454 0.5861 0.6750 0.5823 0.6015 0.6175 0.5563 0.7010 0.5982 0.5527 0.5885 het 1221.58 86 3 48419897 . C T 1221.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.790;DP=86;Dels=0.00;FS=10.547;HRun=1;HaplotypeScore=2.4703;MQ=58.41;MQ0=0;MQRankSum=0.303;QD=14.20;ReadPosRankSum=0.285;VQSLOD=4.3274;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,45:86:99:1252,0,1023 3 48422235 48422235 T A exonic FBXW12 nonsynonymous SNV FBXW12:NM_001159927:exon7:c.T608A:p.V203D,FBXW12:NM_001159929:exon7:c.T761A:p.V254D,FBXW12:NM_207102:exon8:c.T818A:p.V273D 0.35 0.3 0.37 0.34 0.47 0.31 0.4037 0.3276 0.3597 0.3401 0.3972 0.4526 0.3700 0.3229 0.43 0.33 0.47 0.28 0.52 rs6784322 COSM4002718 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.235 0.180 T 0.039 0.197 B 0.048 0.236 B 0.108 0.026 N 1 0.090 P -0.345 0.033 N 2.05 0.629 T -0.42 0.142 N 0.067 0.074 -1.051 0.141 T 0.000 0.000 T . . . -0.827 0.039 0.037 0.526 0.047 0.006 0.028 N c -1.767 -1.815 0.723 0.229 0.487 0.133 0 -6.75 0.016 -0.974 0.039 -2.189 0.004 0.000 0.063 0.000 0.016 2.717 0.048 Quinoprotein amine dehydrogenase\x2c beta chain-like|WD40/YVTN repeat-like-containing domain;WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40/YVTN repeat-like-containing domain ENSG00000229759.1|ENSG00000164045.7|ENSG00000211535.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000232112.3|ENSG00000232112.3|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000244380.1|ENSG00000229759.1|ENSG00000244380.1|ENSG00000229759.1|ENSG00000232112.3|ENSG00000229759.1|ENSG00000244380.1|ENSG00000229759.1|ENSG00000232112.3|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164054.11|ENSG00000164053.13|ENSG00000164050.8|ENSG00000229759.1|ENSG00000164049.10|ENSG00000229759.1|ENSG00000164048.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid 0.4047 0.3236 0.3715 0.4715 0.3372 0.3910 0.4544 0.4104 0.3262 0.3969 0.3241 0.3789 0.4437 0.3009 0.4022 0.4476 0.4102 het 1024.93 115 3 48422235 . T A 1024.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.631;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9524;MQ=59.15;MQ0=0;MQRankSum=0.408;QD=8.91;ReadPosRankSum=0.482;VQSLOD=6.3640;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,46:115:99:1055,0,1823 3 48461313 48461313 C G exonic PLXNB1 synonymous SNV PLXNB1:NM_001130082:exon11:c.G2382C:p.P794P,PLXNB1:NM_002673:exon11:c.G2382C:p.P794P 0.43 0.64 0.34 0.31 0.47 0.31 0.4673 0.6488 0.3051 0.3602 0.4536 0.4875 0.4675 0.3851 0.52 0.62 0.48 0.36 0.39 rs2362450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4101 0.6227 0.2530 0.5208 0.3121 0.3950 0.4598 0.4285 0.3328 0.4777 0.6165 0.2837 0.4633 0.2761 0.4021 0.4513 0.4211 het 391.12 29 3 48461313 . C G 391.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.851;DP=29;Dels=0.00;FS=3.696;HRun=2;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=0.458;QD=13.49;ReadPosRankSum=0.196;VQSLOD=6.1693;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,15:29:99:421,0,379 3 48474249 48474249 A G exonic CCDC51 synonymous SNV CCDC51:NM_001256964:exon4:c.T805C:p.L269L,CCDC51:NM_001256965:exon4:c.T478C:p.L160L,CCDC51:NM_001256966:exon4:c.T478C:p.L160L,CCDC51:NM_001256967:exon4:c.T478C:p.L160L,CCDC51:NM_001256968:exon4:c.T478C:p.L160L,CCDC51:NM_001256969:exon4:c.T478C:p.L160L,CCDC51:NM_024661:exon4:c.T805C:p.L269L 0.32 0.24 0.29 0.31 0.46 0.31 0.3817 0.2773 0.2029 0.3117 0.3976 0.4507 0.3567 0.3218 0.4 0.27 0.47 0.27 0.52 rs2279077 COSM4002721 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3783 0.2735 0.2264 0.4702 0.3090 0.3917 0.4523 0.3937 0.3250 0.3787 0.2772 0.2488 0.4437 0.2754 0.4023 0.4479 0.4008 het 2202.35 151 3 48474249 . A G 2202.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.131;DP=151;Dels=0.00;FS=2.071;HRun=1;HaplotypeScore=3.6647;MQ=59.17;MQ0=0;MQRankSum=-0.827;QD=14.59;ReadPosRankSum=1.331;VQSLOD=5.6716;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,75:151:99:2232,0,1913 3 48476431 48476431 C G exonic CCDC51 synonymous SNV CCDC51:NM_001256964:exon2:c.G108C:p.L36L,CCDC51:NM_024661:exon2:c.G108C:p.L36L 0.99 0.96 0.99 1. 1. 1. 0.9972 0.9684 0.9982 0.9999 1 1.0000 0.9978 0.9999 0.99 0.97 1. 0.98 0.87 rs13062723 COSM4158109 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9978 0.9690 0.9988 1 0.9999 1 0.9999 0.9987 0.9999 0.9910 0.9686 0.9964 1 1 1 0.9999 0.9990 hom 1648.03 52 3 48476431 . C G 1648.03 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=31.69;VQSLOD=8.7041;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1681,135,0 3 48508585 48508585 C T exonic TREX1 synonymous SNV TREX1:NM_016381:exon1:c.C696T:p.Y232Y,TREX1:NM_007248:exon2:c.C501T:p.Y167Y,TREX1:NM_033629:exon2:c.C531T:p.Y177Y 0.31 0.24 0.29 0.31 0.44 0.3 0.3706 0.2723 0.1993 0.3080 0.3896 0.4352 0.3485 0.3176 0.39 0.27 0.45 0.27 0.48 rs11797 COSM4002723 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign|Benign not_specified|Vasculopathy\x2c_retinal\x2c_with_cerebral_leukodystrophy|Aicardi_Goutieres_syndrome RCV000082324.7|RCV000341237.1|RCV000405847.1 MedGen|MedGen:OMIM|MedGen:Orphanet:SNOMED_CT CN169374|C1860518:192315|C0393591:ORPHA51:230312006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3673 0.2691 0.2201 0.4532 0.3045 0.3825 0.4367 0.3802 0.3210 0.3693 0.2720 0.2410 0.4305 0.2732 0.3910 0.4361 0.3847 het 1519.18 104 3 48508585 . C T 1519.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.820;DP=104;Dels=0.00;FS=9.574;HRun=0;HaplotypeScore=1.7998;MQ=60.00;MQ0=0;MQRankSum=0.501;QD=14.61;ReadPosRankSum=-1.011;VQSLOD=4.4310;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,58:104:99:1549,0,1265 3 48625266 48625266 T C exonic COL7A1 synonymous SNV COL7A1:NM_000094:exon21:c.A2817G:p.P939P 0.68 0.94 0.59 0.39 0.72 0.65 0.6799 0.9049 0.5915 0.3799 0.7256 0.7020 0.6896 0.6490 0.77 0.9 0.71 0.67 0.64 rs1264194 COSM446657 1(thyroid) Benign|Benign not_specified|Dystrophic_epidermolysis_bullosa RCV000243500.1|RCV000408231.1 MedGen|MedGen:SNOMED_CT CN169374|C0079294:254185007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6741 0.9074 0.5873 0.8219 0.3775 0.7303 0.6950 0.6924 0.6524 0.7408 0.9026 0.6086 0.7947 0.3558 0.7227 0.7018 0.6889 hom 1398.78 45 3 48625266 . T C 1398.78 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;QD=31.08;VQSLOD=9.4570;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1432,123,0 3 48628014 48628014 G A exonic COL7A1 nonsynonymous SNV COL7A1:NM_000094:exon14:c.C1784T:p.P595L 0.099 0.03 0.073 0.036 0.12 0.25 0.1192 0.0491 0.0758 0.0255 0.1084 0.1276 0.1468 0.2113 0.1 0.054 0.13 0.054 0.098 rs2228561 COSM4158116 1(pancreas);1(thyroid) Benign|Benign not_specified|Dystrophic_epidermolysis_bullosa RCV000252599.1|RCV000366293.1 MedGen|MedGen:SNOMED_CT CN169374|C0079294:254185007 . . . . . . 0.412 0.101 T 0.0 0.026 B 0.0 0.013 B 0.170 0.174 N 1.000 0.090 P 1.445 0.365 L -2.27 0.874 D -0.49 0.156 N 0.052 0.034 -1.048 0.149 T 0.006 0.019 T . . . 0.154 0.109 4.185 0.472 0.038 0.066 0.125 N c -1.339 -1.386 1.000 0.747 0.706 0.609 0 -2.98 0.051 -0.742 0.049 -0.758 0.034 0.000 0.063 0.171 0.210 3.713 0.079 Fibronectin type III ENSG00000164053.13|ENSG00000178252.13|ENSG00000213672.3|ENSG00000213672.3|ENSG00000178252.13|ENSG00000213672.3|ENSG00000178252.13|ENSG00000213672.3|ENSG00000164053.13|ENSG00000213672.3|ENSG00000232112.3|ENSG00000164053.13|ENSG00000213672.3|ENSG00000178252.13|ENSG00000213672.3|ENSG00000164053.13|ENSG00000213672.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid 0.1174 0.0457 0.0704 0.0972 0.0250 0.1148 0.1312 0.1152 0.2145 0.1052 0.0536 0.0609 0.1159 0.0302 0.1160 0.1423 0.1181 het 1197.32 105 3 48628014 . G A 1197.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.911;DP=105;Dels=0.00;FS=1.586;HRun=0;HaplotypeScore=2.2100;MQ=59.42;MQ0=0;MQRankSum=2.198;QD=11.40;ReadPosRankSum=-0.515;VQSLOD=6.0914;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,45:105:99:1227,0,1617 3 48677895 48677895 A T exonic CELSR3 synonymous SNV CELSR3:NM_001407:exon34:c.T9123A:p.A3041A 0.014 0.0023 0.017 . 0.049 0.0061 0.0327 0.0077 0.0238 0 0.0526 0.0453 0.0279 0.0141 0.03 0.007 0.041 . 0.016 rs1264195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0317 0.0059 0.0266 0.0294 0 0.0465 0.0443 0.0339 0.0129 0.0305 0.0081 0.0274 0.0331 0 0.0487 0.0425 0.0327 het 1266.91 73 3 48677895 . A T 1266.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.181;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8014;MQ=59.74;MQ0=0;MQRankSum=-0.510;QD=17.35;ReadPosRankSum=-0.095;VQSLOD=4.7828;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,43:73:99:1297,0,907 3 48682480 48682480 C A exonic CELSR3 nonsynonymous SNV CELSR3:NM_001407:exon25:c.G7960T:p.A2654S . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 0.721 D 1.0 0.899 D 0.996 0.875 D . . . 1 0.810 D 3.3 0.907 M 1.25 0.365 T -2.77 0.587 D 0.461 0.789 -0.166 0.785 T 0.336 0.703 T 0.074 0.720 D 6.743 0.920 32 0.997 0.833 0.997 0.984 D c 0.907 0.821 1.000 0.747 0.696 0.567 0 5.15 0.702 7.545 0.809 0.807 0.329 1.000 0.715 0.996 0.625 18.621 0.912 GPCR\x2c family 2-like . . . . . . . . . . . . . . . . . . . het 796.84 62 3 48682480 . C A 796.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.698;DP=62;Dels=0.00;FS=4.985;HRun=1;HaplotypeScore=0.0000;MQ=58.82;MQ0=0;MQRankSum=0.134;QD=12.85;ReadPosRankSum=1.092;VQSLOD=3.9208;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,32:62:99:827,0,796 3 48727112 48727112 G A exonic IP6K2 synonymous SNV IP6K2:NM_001005909:exon5:c.C639T:p.Y213Y,IP6K2:NM_016291:exon5:c.C639T:p.Y213Y 0.74 0.5 0.74 0.95 0.65 0.93 0.7050 0.5218 0.8487 0.9563 0.6776 0.6356 0.6993 0.8801 0.6 0.52 0.63 0.63 0.7 rs4858798 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7152 0.5219 0.8319 0.7028 0.9607 0.6785 0.6322 0.6877 0.8831 0.6285 0.5081 0.7722 0.6987 0.9685 0.6604 0.6424 0.6650 hom 3123.31 98 3 48727112 . G A 3123.31 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.82;MQ0=0;QD=31.87;VQSLOD=9.1611;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3156,253,0 3 49054692 49054692 T C exonic DALRD3 nonsynonymous SNV DALRD3:NM_001009996:exon5:c.A896G:p.Q299R,DALRD3:NM_001276405:exon5:c.A896G:p.Q299R,DALRD3:NM_018114:exon5:c.A395G:p.Q132R 0.91 0.9 0.86 1. 0.79 0.96 0.8278 0.8781 0.9139 0.9999 0.7980 0.7586 0.8139 0.9382 0.8 0.88 0.76 0.88 0.85 rs3087866 COSM5904758;COSM5904759 1(skin) . . . . . . . . . . . 1.0 0.024 T 0.0 0.026 B 0.0 0.013 B 0.027 0.258 N 1 0.090 P -0.145 0.044 N 1.2 0.382 T 0.96 0.022 N 0.105 0.111 -0.955 0.402 T 0.000 0.000 T . . . -0.064 0.088 2.011 0.887 0.176 0.008 0.033 N c -1.133 -1.015 1.000 0.747 0.726 0.872 0 1.87 0.244 0.099 0.149 -2.329 0.003 0.012 0.185 0.327 0.242 8.283 0.309 . ENSG00000229759.1|ENSG00000145029.7|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178252.13|ENSG00000235261.1|ENSG00000198218.6|ENSG00000178252.13|ENSG00000145020.10|ENSG00000145029.7|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178252.13|ENSG00000235261.1|ENSG00000198218.6|ENSG00000145020.10|ENSG00000229759.1|ENSG00000145029.7|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178252.13|ENSG00000235261.1|ENSG00000173421.12|ENSG00000233276.2|ENSG00000213672.3|ENSG00000145020.10|ENSG00000177352.9|ENSG00000145020.10|ENSG00000198218.6|ENSG00000233276.2|ENSG00000178252.13|ENSG00000145020.10|ENSG00000198218.6|ENSG00000233276.2|ENSG00000213672.3|ENSG00000213672.3|ENSG00000145020.10|ENSG00000198218.6|ENSG00000233276.2|ENSG00000178149.12|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178467.13|ENSG00000178252.13|ENSG00000185909.10|ENSG00000145020.10|ENSG00000233276.2|ENSG00000178252.13|ENSG00000145020.10|ENSG00000198218.6|ENSG00000145020.10|ENSG00000178252.13|ENSG00000235261.1|ENSG00000198218.6|ENSG00000272434.1|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178252.13|ENSG00000198218.6|ENSG00000178252.13|ENSG00000198218.6|ENSG00000178252.13|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178467.13|ENSG00000178252.13|ENSG00000235261.1|ENSG00000198218.6|ENSG00000145029.7|ENSG00000145020.10|ENSG00000067560.6|ENSG00000213672.3|ENSG00000178252.13|ENSG00000235261.1|ENSG00000145029.7|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178467.13|ENSG00000178252.13|ENSG00000235261.1|ENSG00000177352.9|ENSG00000198218.6|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178467.13|ENSG00000178252.13|ENSG00000145020.10|ENSG00000198218.6|ENSG00000145020.10|ENSG00000233276.2|ENSG00000177479.15|ENSG00000145020.10|ENSG00000213672.3|ENSG00000235261.1|ENSG00000185909.10|ENSG00000198218.6|ENSG00000145020.10|ENSG00000198218.6|ENSG00000145020.10|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178252.13|ENSG00000198218.6|ENSG00000145029.7|ENSG00000233276.2|ENSG00000178149.12|ENSG00000177479.15|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178467.13|ENSG00000235261.1|ENSG00000198218.6|ENSG00000145020.10|ENSG00000235261.1|ENSG00000145020.10|ENSG00000229759.1|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178467.13|ENSG00000178252.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.8328 0.8813 0.9013 0.8746 0.9998 0.8035 0.7537 0.8119 0.9394 0.8142 0.8794 0.8768 0.8467 1 0.7967 0.7572 0.7965 hom 5797.80 179 3 49054692 . T C 5797.80 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;QD=32.39;VQSLOD=9.8804;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5797,463,0 3 49138810 49138810 T C exonic QARS nonsynonymous SNV QARS:NM_001272073:exon10:c.A821G:p.N274S,QARS:NM_005051:exon10:c.A854G:p.N285S 0.016 0.0015 0.02 0.001 0.06 0.0051 0.0391 0.0108 0.0196 0.0003 0.0606 0.0562 0.0565 0.0119 0.043 0.014 0.057 0.022 0.025 rs11539148 . . Benign|Benign not_specified|Microcephaly\x2c_progressive\x2c_with_seizures_and_cerebral_and_cerebellar_atrophy RCV000424979.1|RCV000472019.1 MedGen|MedGen:OMIM CN169374|CN186296:615760 . . . . . . 0.267 0.162 T 0.054 0.212 B 0.172 0.337 B 0.000 0.843 D 1 0.810 D 1.84 0.484 L 2.01 0.213 T -4.4 0.789 D 0.102 0.222 -1.108 0.033 T 0.009 0.034 T . . . 1.716 0.267 14.50 0.983 0.399 0.980 0.785 D c -0.154 -0.015 1.000 0.517 0.707 0.730 0 4.57 0.557 5.759 0.682 0.146 0.234 1.000 0.715 1.000 0.888 11.541 0.497 Aminoacyl-tRNA synthetase\x2c class I\x2c conserved site|Glutamyl/glutaminyl-tRNA synthetase\x2c class Ib\x2c catalytic domain|Rossmann-like alpha/beta/alpha sandwich fold;Glutamyl/glutaminyl-tRNA synthetase\x2c class Ib\x2c catalytic domain|Rossmann-like alpha/beta/alpha sandwich fold . . 0.0400 0.0106 0.0172 0.0505 0.0001 0.0662 0.0581 0.0451 0.0126 0.0472 0.0118 0.0203 0.0530 0 0.0644 0.0698 0.0541 het 1308.71 127 3 49138810 . T C 1308.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.601;DP=127;Dels=0.00;FS=1.437;HRun=0;HaplotypeScore=5.9115;MQ=58.55;MQ0=0;MQRankSum=2.012;QD=10.30;ReadPosRankSum=0.895;VQSLOD=4.3548;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,54:127:99:1339,0,1828 3 49273996 49273996 C T exonic CCDC36 synonymous SNV CCDC36:NM_001135197:exon3:c.C72T:p.S24S,CCDC36:NM_178173:exon5:c.C72T:p.S24S 0.71 0.43 0.71 0.94 0.64 0.9 0.6877 0.4534 0.8341 0.9548 0.6865 0.6216 0.6648 0.8562 0.56 0.45 0.62 0.6 0.52 rs12631989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6960 0.4493 0.8145 0.6731 0.9593 0.6887 0.6147 0.6669 0.8565 0.6035 0.4453 0.7626 0.6623 0.9660 0.6669 0.6270 0.6704 hom 2063.37 71 3 49273996 . C T 2063.37 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.97;MQ0=0;QD=29.06;VQSLOD=8.6886;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2096,160,0 3 49343175 49343175 G A exonic USP4 synonymous SNV USP4:NM_199443:exon8:c.C960T:p.D320D,USP4:NM_003363:exon9:c.C1101T:p.D367D 0.092 0.065 0.098 0.055 0.2 0.053 0.1440 0.0938 0.0824 0.0428 0.2097 0.1851 0.1615 0.0764 0.15 0.097 0.17 0.11 0.16 rs2230929 COSM149389 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1436 0.0898 0.0900 0.2131 0.0389 0.2143 0.1805 0.1656 0.0736 0.1425 0.0950 0.1134 0.2020 0.0304 0.2179 0.1635 0.1663 het 1302.54 104 3 49343175 . G A 1302.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.384;DP=104;Dels=0.00;FS=12.514;HRun=0;HaplotypeScore=1.8928;MQ=59.64;MQ0=0;MQRankSum=1.125;QD=12.52;ReadPosRankSum=-1.027;VQSLOD=4.3019;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,53:104:99:1333,0,1264 3 49362369 49362369 C T exonic USP4 synonymous SNV USP4:NM_001251877:exon5:c.G591A:p.K197K,USP4:NM_003363:exon5:c.G591A:p.K197K,USP4:NM_199443:exon5:c.G591A:p.K197K 0.092 0.065 0.098 0.055 0.2 0.053 0.1433 0.0941 0.0824 0.0426 0.2100 0.1849 0.1619 0.0741 0.15 0.097 0.17 0.11 0.15 rs56038006 COSM149390 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1434 0.0900 0.0906 0.2134 0.0386 0.2149 0.1805 0.1648 0.0740 0.1422 0.0946 0.1124 0.2020 0.0308 0.2178 0.1632 0.1656 het 2878.10 210 3 49362369 . C T 2878.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.652;DP=210;Dels=0.00;FS=4.772;HRun=2;HaplotypeScore=4.2569;MQ=59.54;MQ0=0;MQRankSum=-0.395;QD=13.71;ReadPosRankSum=0.519;VQSLOD=4.8893;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:100,109:210:99:2908,0,2762 3 49455330 49455330 C T exonic AMT synonymous SNV AMT:NM_001164710:exon7:c.G822A:p.R274R,AMT:NM_001164711:exon7:c.G786A:p.R262R,AMT:NM_000481:exon8:c.G954A:p.R318R,AMT:NM_001164712:exon8:c.G954A:p.R318R 0.2 0.21 0.17 0.073 0.34 0.2 0.2748 0.2363 0.1430 0.0599 0.4567 0.3237 0.3119 0.2321 0.29 0.24 0.31 0.21 0.39 rs11715915 COSM4158145 1(thyroid) Benign|Benign not_specified|Non-ketotic_hyperglycinemia RCV000249180.1|RCV000375334.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0751748:605899:ORPHA407:237939006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2774 0.2337 0.1525 0.4590 0.0554 0.4625 0.3125 0.3042 0.2362 0.2826 0.2283 0.1770 0.39 0.0488 0.4475 0.3015 0.3316 het 1136.22 87 3 49455330 . C T 1136.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.189;DP=87;Dels=0.00;FS=2.298;HRun=1;HaplotypeScore=3.6626;MQ=59.47;MQ0=0;MQRankSum=-0.363;QD=13.06;ReadPosRankSum=-0.294;VQSLOD=5.8737;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,43:87:99:1166,0,1232 3 49548008 49548008 C G exonic DAG1 nonsynonymous SNV DAG1:NM_001177639:exon2:c.C41G:p.S14W,DAG1:NM_001177643:exon2:c.C41G:p.S14W,DAG1:NM_001177644:exon2:c.C41G:p.S14W,DAG1:NM_004393:exon2:c.C41G:p.S14W,DAG1:NM_001177635:exon3:c.C41G:p.S14W,DAG1:NM_001177637:exon3:c.C41G:p.S14W,DAG1:NM_001177638:exon3:c.C41G:p.S14W,DAG1:NM_001177640:exon3:c.C41G:p.S14W,DAG1:NM_001177641:exon3:c.C41G:p.S14W,DAG1:NM_001177642:exon3:c.C41G:p.S14W,DAG1:NM_001177636:exon4:c.C41G:p.S14W,DAG1:NM_001165928:exon5:c.C41G:p.S14W,DAG1:NM_001177634:exon5:c.C41G:p.S14W 0.97 0.88 0.99 1. 1. 1. 0.9923 0.9162 0.9959 1 1 0.9999 0.9989 0.9998 0.97 0.92 1. 0.94 0.92 rs2131107 . . not provided\x2cBenign not_provided\x2cnot_specified RCV000024443.1\x2cRCV000214409.1 MedGen\x2cMedGen CN221809\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.289 N 1.000 0.210 P -1.355 0.007 N 0.94 0.441 T -0.09 0.937 N 0.251 0.524 -0.946 0.418 T 0.000 0.000 T . . . 1.785 0.275 14.90 0.163 0.004 0.123 0.170 N c -0.966 -0.709 0.006 0.111 0.707 0.730 0 4.69 0.584 1.729 0.375 0.073 0.181 0.997 0.399 0.276 0.233 10.554 0.441 . . . 0.9939 0.9138 0.9961 1 1 1.0000 0.9998 0.9967 0.9999 0.9751 0.9131 0.9916 1 0.9994 1 0.9997 0.9959 hom 5966.89 172 3 49548008 . C G 5966.89 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.7764;MQ=59.36;MQ0=0;QD=34.69;VQSLOD=8.7367;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5966,460,0 3 49570200 49570200 C T exonic DAG1 synonymous SNV DAG1:NM_001177639:exon3:c.C2256T:p.H752H,DAG1:NM_001177643:exon3:c.C2256T:p.H752H,DAG1:NM_001177644:exon3:c.C2256T:p.H752H,DAG1:NM_004393:exon3:c.C2256T:p.H752H,DAG1:NM_001177635:exon4:c.C2256T:p.H752H,DAG1:NM_001177637:exon4:c.C2256T:p.H752H,DAG1:NM_001177638:exon4:c.C2256T:p.H752H,DAG1:NM_001177640:exon4:c.C2256T:p.H752H,DAG1:NM_001177641:exon4:c.C2256T:p.H752H,DAG1:NM_001177642:exon4:c.C2256T:p.H752H,DAG1:NM_001177636:exon5:c.C2256T:p.H752H,DAG1:NM_001165928:exon6:c.C2256T:p.H752H,DAG1:NM_001177634:exon6:c.C2256T:p.H752H 0.22 0.27 0.17 0.072 0.33 0.2 0.2775 0.2867 0.1444 0.0592 0.4551 0.3212 0.3083 0.2315 0.31 0.29 0.31 0.22 0.39 rs1801143 . . not provided|other not_provided|not_specified RCV000024446.1|RCV000116863.5 MedGen|MedGen CN221809|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2799 0.2865 0.1545 0.4592 0.0548 0.4621 0.3105 0.3062 0.2353 0.2975 0.2839 0.1778 0.3907 0.0496 0.4471 0.2999 0.3313 het 722.30 50 3 49570200 . C T 722.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.336;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.915;QD=14.45;ReadPosRankSum=0.039;VQSLOD=6.7284;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,27:50:99:752,0,699 3 49690199 49690199 G A exonic BSN synonymous SNV BSN:NM_003458:exon5:c.G3210A:p.T1070T 0.91 0.9 0.88 0.99 0.83 0.96 0.8683 0.8798 0.9299 0.9953 0.9032 0.8228 0.8516 0.9448 0.84 0.88 0.82 0.85 0.75 rs4855885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8748 0.8819 0.9177 0.8604 0.9950 0.9088 0.8201 0.8466 0.9463 0.8639 0.8778 0.8902 0.8079 0.9969 0.8991 0.8325 0.8676 hom 2180.80 65 3 49690199 . G A 2180.80 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=33.55;VQSLOD=9.9172;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2214,178,0 3 49701298 49701298 G A exonic BSN nonsynonymous SNV BSN:NM_003458:exon8:c.G11587A:p.A3863T 0.64 0.4 0.68 0.93 0.51 0.76 0.5906 0.4290 0.7815 0.9464 0.4735 0.5160 0.5559 0.7207 0.49 0.43 0.52 0.54 0.42 rs2005557 COSM1179807 1(pancreas);1(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.955 0.083 N 1 0.090 P 0 0.065 N 2.25 0.178 T 0.29 0.042 N 0.014 0.002 -0.951 0.408 T 0.000 0.000 T . . . 1.156 0.205 11.52 0.842 0.147 0.009 0.035 N c -1.270 -1.210 1.000 0.480 0.516 0.203 0 1.26 0.204 0.403 0.206 -0.267 0.087 0.007 0.175 0.953 0.430 1.03 0.014 . ENSG00000178252.13|ENSG00000173531.11|ENSG00000173531.11|ENSG00000164062.8|ENSG00000068745.10|ENSG00000213672.3|ENSG00000178252.13|ENSG00000068745.10|ENSG00000173531.11|ENSG00000068745.10|ENSG00000178252.13|ENSG00000173531.11|ENSG00000187492.4|ENSG00000187492.4|ENSG00000173531.11|ENSG00000145020.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.5935 0.4260 0.7603 0.4070 0.9499 0.4690 0.5203 0.5491 0.7170 0.5307 0.4254 0.7117 0.4305 0.9536 0.4753 0.5497 0.5524 het 1044.80 75 3 49701298 . G A 1044.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.710;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9578;MQ=59.75;MQ0=0;MQRankSum=-1.458;QD=13.93;ReadPosRankSum=0.907;VQSLOD=5.8800;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,39:75:99:1075,0,955 3 49701983 49701983 G A exonic BSN synonymous SNV BSN:NM_003458:exon9:c.G11736A:p.T3912T 0.2 0.22 0.17 0.052 0.32 0.2 0.2646 0.2308 0.1384 0.0468 0.4331 0.3070 0.2983 0.2463 0.28 0.24 0.3 0.25 0.38 rs9858542 . . . . . . . Crohn's disease 1.09 . 17554300 rs9858542 4E-8 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2634 0.2284 0.1469 0.4446 0.0435 0.4420 0.2987 0.2867 0.2293 0.2691 0.2280 0.1635 0.3775 0.0408 0.4233 0.2829 0.3071 het 997.92 80 3 49701983 . G A 997.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.107;DP=80;Dels=0.00;FS=0.887;HRun=0;HaplotypeScore=2.7069;MQ=59.53;MQ0=0;MQRankSum=-0.473;QD=12.47;ReadPosRankSum=0.955;VQSLOD=6.4777;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,37:80:99:1028,0,1143 3 49714225 49714225 T C exonic APEH synonymous SNV APEH:NM_001640:exon9:c.T852C:p.Y284Y 0.2 0.24 0.17 0.057 0.32 0.2 0.2630 0.2480 0.1402 0.0485 0.4326 0.3069 0.2942 0.2240 0.28 0.25 0.3 0.26 0.39 rs1131095 COSM149391 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2665 0.2467 0.1487 0.4438 0.0449 0.4396 0.2982 0.2907 0.2278 0.2741 0.2461 0.1659 0.3733 0.0407 0.4232 0.2828 0.3082 het 2371.34 172 3 49714225 . T C 2371.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.926;DP=172;Dels=0.00;FS=8.273;HRun=0;HaplotypeScore=7.8260;MQ=59.87;MQ0=0;MQRankSum=0.542;QD=13.79;ReadPosRankSum=0.895;VQSLOD=4.3149;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,88:172:99:2401,0,2221 3 49721532 49721532 G A exonic MST1 nonsynonymous SNV MST1:NM_020998:exon18:c.C2107T:p.R703C 0.19 0.22 0.17 0.057 0.31 0.19 0.2557 0.2306 0.1336 0.0519 0.4090 0.3010 0.2859 0.2174 0.27 0.24 0.29 0.098 0.36 rs3197999 COSM149393 1(stomach);2(soft_tissue);4(prostate);1(upper_aerodigestive_tract) . . . . . Crohn's disease 1.20 . 18587394 rs3197999 1E-12 0.02 0.496 D 0.727 0.405 P 0.338 0.405 B 0.290 0.148 N 0.998 0.225 P 2.26 0.646 M -2.48 0.891 D -2.58 0.556 D 0.17 0.441 -1.025 0.221 T 0.000 0.000 T . . . 5.174 0.698 25.5 0.998 0.861 0.646 0.322 D c -0.293 -0.427 0.833 0.247 0.672 0.522 0 -2.82 0.054 1.118 0.306 0.100 0.199 0.550 0.271 0.942 0.416 12.694 0.562 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000164062.8|ENSG00000004534.10|ENSG00000145029.7|ENSG00000164068.11|ENSG00000145020.10|ENSG00000235261.1|ENSG00000004534.10|ENSG00000145029.7|ENSG00000145020.10|ENSG00000235261.1|ENSG00000004534.10|ENSG00000145029.7|ENSG00000233276.2|ENSG00000145020.10|ENSG00000235261.1|ENSG00000233276.2|ENSG00000233276.2|ENSG00000004534.10|ENSG00000164062.8|ENSG00000164068.11|ENSG00000145020.10|ENSG00000182179.6|ENSG00000164062.8|ENSG00000004534.10|ENSG00000185614.4|ENSG00000178252.13|ENSG00000145029.7|ENSG00000233276.2|ENSG00000145020.10|ENSG00000164068.11|ENSG00000004534.10|ENSG00000145029.7|ENSG00000145020.10|ENSG00000185614.4|ENSG00000173531.11|ENSG00000004534.10|ENSG00000145029.7|ENSG00000164068.11|ENSG00000145020.10|ENSG00000235261.1|ENSG00000173531.11|ENSG00000173531.11|ENSG00000004534.10|ENSG00000173531.11|ENSG00000004534.10|ENSG00000145029.7|ENSG00000164068.11|ENSG00000233276.2|ENSG00000235261.1|ENSG00000004534.10|ENSG00000182179.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2580 0.2284 0.1418 0.4434 0.0451 0.4150 0.2913 0.2843 0.2202 0.2622 0.2266 0.1579 0.3775 0.0414 0.4019 0.2757 0.2951 het 1459 96 3 49721532 . G A 1459 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.554;DP=96;Dels=0.00;FS=3.028;HRun=0;HaplotypeScore=5.9154;MQ=57.72;MQ0=0;MQRankSum=0.330;QD=15.20;ReadPosRankSum=-0.749;VQSLOD=4.3852;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,51:96:99:1489,0,1141 3 49723147 49723147 T C exonic MST1 synonymous SNV MST1:NM_020998:exon11:c.A1269G:p.E423E 0.018 0.0015 0.022 0.001 0.063 0.0072 0.0416 0.0111 0.0203 0.0008 0.0616 0.0580 0.0629 0.0223 0.043 0.014 0.059 . 0.025 rs62262683 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0423 0.0108 0.0180 0.0529 0.0002 0.0666 0.0599 0.0484 0.0225 0.0476 0.0115 0.0215 0.0596 0 0.0644 0.0705 0.0552 het 1060.98 92 3 49723147 . T C 1060.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.143;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2184;MQ=56.66;MQ0=2;MQRankSum=1.654;QD=11.53;ReadPosRankSum=0.911;VQSLOD=2.7267;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:51,40:92:99:1091,0,1268 3 49724808 49724808 T C exonic MST1 synonymous SNV MST1:NM_020998:exon4:c.A459G:p.P153P 0.86 0.71 0.86 0.99 0.83 0.96 0.8574 0.7281 0.9234 0.9910 0.9040 0.8225 0.8451 0.9446 0.79 0.73 0.82 . 0.83 rs3020779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8639 0.7279 0.9115 0.8509 0.9931 0.9087 0.8190 0.8426 0.945 0.8201 0.7258 0.8819 0.8079 0.9963 0.8986 0.8320 0.8599 hom 2891.10 91 3 49724808 . T C 2891.10 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8614;MQ=50.55;MQ0=0;QD=31.77;VQSLOD=3.6252;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,90:91:99:2924,241,0 3 49737954 49737954 G A exonic RNF123 nonsynonymous SNV RNF123:NM_022064:exon14:c.G1160A:p.R387Q 0.022 0.0068 0.026 0.006 0.072 0.0072 0.0497 0.0091 0.0316 0.0021 0.0910 0.0697 0.0508 0.0153 0.043 0.0098 0.061 0.022 0.041 rs35620248 . . . . . . . . . . . . . 0.19 0.211 T 0.999 0.764 D 0.978 0.725 D 0.001 0.437 D 0.999 0.480 D 0.975 0.246 L -0.63 0.751 T -0.41 0.140 N 0.383 0.443 -0.697 0.606 T 0.063 0.261 T . . . 5.703 0.778 26.8 0.999 0.938 0.980 0.785 D c 0.667 0.713 1.000 0.747 0.707 0.730 0 5.4 0.779 7.355 0.785 0.953 0.551 1.000 0.715 0.992 0.562 18.147 0.895 . ENSG00000173531.11|ENSG00000173531.11|ENSG00000164062.8|ENSG00000173531.11|ENSG00000164062.8|ENSG00000185614.4|ENSG00000173531.11|ENSG00000173531.11|ENSG00000164062.8|ENSG00000173531.11|ENSG00000164062.8|ENSG00000173531.11 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.0507 0.0087 0.0369 0.0886 0.0021 0.0895 0.0661 0.0625 0.0155 0.0416 0.0102 0.0477 0.0795 0.0025 0.0844 0.0522 0.0560 het 2753.22 179 3 49737954 . G A 2753.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.622;DP=179;Dels=0.00;FS=4.398;HRun=0;HaplotypeScore=2.5769;MQ=58.72;MQ0=0;MQRankSum=-0.211;QD=15.38;ReadPosRankSum=0.439;VQSLOD=5.2225;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,99:179:99:2783,0,1976 3 49738945 49738945 C T exonic RNF123 synonymous SNV RNF123:NM_022064:exon16:c.C1299T:p.V433V 0.24 0.21 0.2 0.15 0.31 0.32 0.2684 0.2127 0.1774 0.1764 0.2455 0.3014 0.2738 0.2913 0.27 0.21 0.3 0.21 0.35 rs6804655 COSM4002726 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2617 0.2105 0.1778 0.2366 0.1712 0.2470 0.3048 0.2719 0.2902 0.2713 0.2153 0.1758 0.2682 0.1638 0.2501 0.3252 0.2822 het 2058.01 141 3 49738945 . C T 2058.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.621;DP=141;Dels=0.00;FS=1.342;HRun=1;HaplotypeScore=3.3999;MQ=59.46;MQ0=1;MQRankSum=-0.063;QD=14.60;ReadPosRankSum=-0.193;VQSLOD=6.4148;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,78:141:99:2088,0,1560 3 49742584 49742584 G A exonic RNF123 synonymous SNV RNF123:NM_022064:exon23:c.G2127A:p.T709T 0.0044 0.0008 0.0014 . 0.015 0.0051 0.0227 0.0038 0.0097 0.0004 0.0707 0.0306 0.0289 0.0115 0.012 0.0027 0.016 . 0.016 rs34539806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0158 0.0027 0.0079 0.0345 0.0001 0.0363 0.0189 0.0142 0.0085 0.0151 0.0041 0.0107 0.0464 0 0.0427 0.0161 0.0173 het 62.29 21 3 49742584 . G A 62.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.537;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=58.89;MQ0=0;MQRankSum=0.206;QD=2.97;ReadPosRankSum=-0.372;VQSLOD=3.7026;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,5:21:92.28:92,0,472 3 49751585 49751585 C T exonic RNF123 synonymous SNV RNF123:NM_022064:exon31:c.C2988T:p.D996D 0.25 0.25 0.21 0.15 0.31 0.32 0.2712 0.2496 0.1793 0.1766 0.2456 0.3005 0.2765 0.2907 0.28 0.25 0.3 0.22 0.35 rs2291542 COSM1424005 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2648 0.2516 0.1802 0.2366 0.1723 0.2469 0.3051 0.2747 0.2897 0.2829 0.2557 0.1790 0.2682 0.1648 0.2503 0.3252 0.2848 het 1488.21 149 3 49751585 . C T 1488.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.383;DP=149;Dels=0.00;FS=7.074;HRun=0;HaplotypeScore=9.8966;MQ=59.44;MQ0=0;MQRankSum=0.787;QD=9.99;ReadPosRankSum=-0.218;VQSLOD=3.8323;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,61:149:99:1518,0,2064 3 49760039 49760039 T C exonic GMPPB nonsynonymous SNV GMPPB:NM_013334:exon5:c.A551G:p.Q184R,GMPPB:NM_021971:exon5:c.A551G:p.Q184R 0.99 0.96 0.99 1. 1. 1. 0.9967 0.9654 0.9980 0.9999 1 0.9999 0.9956 0.9999 0.99 0.97 1. 0.96 1. rs1466685 . . . . . . . . . . . . . 0.071 0.351 T 0.0 0.026 B 0.001 0.040 B 0.595 0.110 N 1.000 0.588 P -0.49 0.026 N -3.29 0.937 D -1.0 0.264 N 0.038 0.058 -0.902 0.478 T 0.000 0.000 T . . . 0.422 0.135 6.799 0.821 0.135 0.106 0.159 N c -1.253 -1.174 1.000 0.747 0.722 0.854 0 -2.63 0.057 -0.893 0.042 -1.763 0.007 0.000 0.063 0.913 0.390 13.805 0.626 Nucleotide-diphospho-sugar transferases|Nucleotidyl transferase domain . . 0.9972 0.9635 0.9975 1 0.9999 1 0.9998 0.9982 0.9998 0.9889 0.9620 0.9952 1 1 1 0.9997 0.9949 hom 2442.53 84 3 49760039 . T C 2442.53 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2905;MQ=58.70;MQ0=0;QD=29.08;VQSLOD=8.5131;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2476,199,0 3 49898273 49898273 A G exonic CAMKV synonymous SNV CAMKV:NM_001320147:exon8:c.T651C:p.N217N,CAMKV:NM_024046:exon8:c.T651C:p.N217N 0.4 0.69 0.37 0.14 0.49 0.21 0.4081 0.6407 0.2647 0.1501 0.3817 0.4754 0.4394 0.2337 0.54 0.63 0.5 0.43 0.46 rs2681781 COSM4158163;COSM4158162 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3992 0.6461 0.2852 0.3445 0.1489 0.3898 0.4890 0.4282 0.2339 0.4961 0.6350 0.3237 0.4238 0.1454 0.3733 0.4978 0.4255 het 2657.38 186 3 49898273 . A G 2657.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.997;DP=186;DS;Dels=0.00;FS=5.406;HRun=2;HaplotypeScore=5.3428;MQ=59.54;MQ0=0;MQRankSum=1.029;QD=14.29;ReadPosRankSum=0.581;VQSLOD=4.8570;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,97:186:99:2687,0,2416 3 49924940 49924940 T C exonic MST1R nonsynonymous SNV MST1R:NM_001318913:exon18:c.A3685G:p.R1229G,MST1R:NM_001244937:exon19:c.A3856G:p.R1286G,MST1R:NM_002447:exon20:c.A4003G:p.R1335G 0.42 0.74 0.38 0.14 0.5 0.21 0.4180 0.6816 0.2676 0.1515 0.3856 0.4860 0.4360 0.2334 0.56 0.67 0.51 0.52 0.5 rs1062633 COSM3736321;COSM3736322 1(skin) . . . . . . . . . . . 0.51 0.077 T 0.0 0.026 B 0.0 0.013 B 0.274 0.151 N 1 0.090 P 0.895 0.225 L -1.68 0.829 D 0.39 0.035 N 0.015 0.049 -0.969 0.374 T 0.000 0.000 T . . . -1.266 0.023 0.005 0.163 0.004 0.014 0.047 N c -1.433 -1.484 0.984 0.306 0.615 0.372 0 -4.24 0.035 -3.169 0.006 -0.767 0.034 0.000 0.063 0.000 0.016 4.163 0.097 Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase\x2c catalytic domain;Protein kinase domain|Tyrosine-protein kinase\x2c catalytic domain ENSG00000004534.10|ENSG00000164068.11|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000228008.1|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164068.11|ENSG00000185614.4|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000182179.6|ENSG00000004534.10|ENSG00000004534.10|ENSG00000185614.4|ENSG00000182179.6|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000164068.11|ENSG00000263506.1|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000230698.1|ENSG00000234667.1|ENSG00000004534.10|ENSG00000185614.4|ENSG00000164078.8|ENSG00000234667.1|ENSG00000004534.10|ENSG00000164078.8|ENSG00000228008.1|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164076.12|ENSG00000264706.1|ENSG00000164077.9|ENSG00000004534.10|ENSG00000164068.11|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000182179.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood 0.4081 0.6876 0.2888 0.4039 0.1473 0.3922 0.4964 0.4379 0.2331 0.5150 0.6804 0.3282 0.4603 0.1433 0.3751 0.5080 0.4406 het 1615.42 111 3 49924940 . T C 1615.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.151;DP=111;Dels=0.00;FS=4.792;HRun=1;HaplotypeScore=1.9402;MQ=60.00;MQ0=0;MQRankSum=-1.518;QD=14.55;ReadPosRankSum=-1.465;VQSLOD=4.9183;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,60:111:99:1645,0,1518 3 49928691 49928691 T C exonic MST1R nonsynonymous SNV MST1R:NM_001318913:exon15:c.A3265G:p.S1089G,MST1R:NM_001244937:exon16:c.A3436G:p.S1146G,MST1R:NM_002447:exon17:c.A3583G:p.S1195G 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 0.9999 . . . 1. 1. rs7433231 COSM4590310;COSM4590311 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 0.9999 1 1 1 1 1.0000 1.0000 0.9999 1 1 1 1 1 1 hom 3973.97 130 3 49928691 . T C 3973.97 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4587;MQ=58.50;MQ0=0;QD=30.57;VQSLOD=8.4839;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:3973,328,0 3 49936102 49936102 T C exonic MST1R nonsynonymous SNV MST1R:NM_001318913:exon2:c.A1250G:p.Q417R,MST1R:NM_001244937:exon4:c.A1568G:p.Q523R,MST1R:NM_002447:exon4:c.A1568G:p.Q523R 0.42 0.74 0.38 0.14 0.5 0.21 0.4172 0.6738 0.2672 0.1489 0.3857 0.4861 0.4371 0.2342 0.56 0.67 0.51 0.51 0.48 rs2230590 COSM3736323;COSM3736324 1(pancreas);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.080 B 0.108 0.196 N 1 0.090 P 0.125 0.086 N 1.05 0.400 T 0.48 0.039 N 0.015 0.004 -0.975 0.361 T 0.000 0.000 T . . . -3.309 0.001 0.001 0.447 0.034 0.017 0.053 N c -1.967 -2.001 1.000 0.747 0.554 0.283 0 -6.78 0.016 -0.968 0.039 -2.481 0.003 0.000 0.063 0.078 0.180 7.547 0.268 Sema domain;WD40/YVTN repeat-like-containing domain ENSG00000004534.10|ENSG00000164068.11|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000228008.1|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164068.11|ENSG00000185614.4|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000182179.6|ENSG00000004534.10|ENSG00000004534.10|ENSG00000185614.4|ENSG00000182179.6|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000164068.11|ENSG00000263506.1|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000230698.1|ENSG00000234667.1|ENSG00000004534.10|ENSG00000185614.4|ENSG00000164078.8|ENSG00000234667.1|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000182179.6|ENSG00000004534.10|ENSG00000164076.12|ENSG00000264706.1|ENSG00000164077.9|ENSG00000004534.10|ENSG00000164068.11|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000182179.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood 0.4073 0.6789 0.2883 0.4036 0.1466 0.3924 0.4961 0.4380 0.2331 0.5134 0.6738 0.3282 0.4603 0.1436 0.3758 0.5082 0.4408 het 811.46 74 3 49936102 . T C 811.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.772;DP=74;Dels=0.00;FS=10.895;HRun=0;HaplotypeScore=10.2005;MQ=59.38;MQ0=0;MQRankSum=-1.059;QD=10.97;ReadPosRankSum=-1.014;VQSLOD=2.5504;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:40,34:74:99:841,0,1163 3 49946812 49946812 G A exonic MON1A synonymous SNV MON1A:NM_001142501:exon4:c.C1206T:p.Y402Y,MON1A:NM_032355:exon5:c.C1692T:p.Y564Y 0.063 0.11 0.045 0.02 0.075 0.044 0.0651 0.1081 0.0390 0.0288 0.0642 0.0700 0.0841 0.0549 0.088 0.11 0.077 0.098 0.057 rs61729114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0641 0.1080 0.0349 0.0683 0.0283 0.0690 0.0732 0.0686 0.0552 0.0826 0.1052 0.0430 0.0728 0.0290 0.0647 0.0822 0.0755 het 954.15 109 3 49946812 . G A 954.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.000;DP=109;Dels=0.00;FS=7.836;HRun=0;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;MQRankSum=0.797;QD=8.75;ReadPosRankSum=1.212;VQSLOD=3.6862;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,43:109:99:984,0,1784 3 50114515 50114515 C T exonic RBM6 synonymous SNV RBM6:NM_001167582:exon17:c.C1755T:p.Y585Y,RBM6:NM_001349194:exon18:c.C1779T:p.Y593Y,RBM6:NM_001349190:exon19:c.C1755T:p.Y585Y,RBM6:NM_001349191:exon20:c.C1755T:p.Y585Y,RBM6:NM_005777:exon21:c.C3321T:p.Y1107Y,RBM6:NM_001349193:exon22:c.C1755T:p.Y585Y,RBM6:NM_001349192:exon23:c.C1755T:p.Y585Y 0.75 0.75 0.69 0.88 0.57 0.83 0.6715 0.7270 0.7850 0.8839 0.6139 0.5833 0.6501 0.8256 0.62 0.72 0.57 0.71 0.52 rs7061 COSM4158172 1(breast);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6742 0.7290 0.7617 0.7342 0.8838 0.6168 0.5736 0.6412 0.8272 0.6458 0.7281 0.7392 0.6533 0.8872 0.6203 0.5736 0.6273 hom 1911.19 65 3 50114515 . C T 1911.19 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7465;MQ=60.00;MQ0=0;QD=29.40;VQSLOD=8.4416;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1944,153,0 3 50144951 50144951 T C exonic RBM5 synonymous SNV RBM5:NM_005778:exon12:c.T990C:p.A330A 0.75 0.75 0.69 0.88 0.57 0.83 0.6715 0.7268 0.7852 0.8847 0.6142 0.5833 0.6498 0.8261 0.62 0.72 0.57 0.71 0.56 rs1061474 COSM4158173 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6742 0.7286 0.7614 0.7336 0.8841 0.6167 0.5737 0.6413 0.8273 0.6458 0.7282 0.7416 0.6556 0.8881 0.6207 0.5729 0.6288 hom 4956.50 162 3 50144951 . T C 4956.50 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.711;DP=162;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.34;MQ0=0;MQRankSum=-1.194;QD=30.60;ReadPosRankSum=0.742;VQSLOD=8.3587;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,161:162:99:4956,376,0 3 50153356 50153356 T C exonic RBM5 synonymous SNV RBM5:NM_005778:exon22:c.T2037C:p.Y679Y 0.75 0.75 0.69 0.88 0.57 0.83 0.6718 0.7269 0.7854 0.8847 0.6148 0.5836 0.6501 0.8265 0.62 0.72 0.57 0.71 0.56 rs1138536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6744 0.7287 0.7617 0.7337 0.8841 0.6170 0.5739 0.6411 0.8275 0.6455 0.7282 0.7399 0.6556 0.8886 0.6203 0.5728 0.6273 hom 4385.43 138 3 50153356 . T C 4385.43 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9967;MQ=59.46;MQ0=0;QD=31.78;VQSLOD=9.8481;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4385,340,0 3 50197097 50197097 C T exonic SEMA3F synonymous SNV SEMA3F:NM_001318800:exon2:c.C42T:p.T14T,SEMA3F:NM_004186:exon2:c.C42T:p.T14T 0.38 0.32 0.3 0.19 0.4 0.67 0.4228 0.3350 0.2680 0.1931 0.4542 0.4277 0.4092 0.6735 0.38 0.33 0.41 0.28 0.39 rs1046953 COSM4002730 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4127 0.3298 0.2661 0.4109 0.1866 0.4505 0.4238 0.3982 0.6730 0.3749 0.3258 0.2608 0.4172 0.1700 0.4593 0.4086 0.4180 het 999.93 62 3 50197097 . C T 999.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.126;DP=62;Dels=0.00;FS=2.290;HRun=0;HaplotypeScore=3.3471;MQ=59.63;MQ0=0;MQRankSum=-0.581;QD=16.13;ReadPosRankSum=-1.052;VQSLOD=5.0252;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,40:62:99:1030,0,513 3 50222926 50222926 T A exonic SEMA3F nonsynonymous SNV SEMA3F:NM_001318798:exon13:c.T1210A:p.L404M,SEMA3F:NM_001318800:exon13:c.T1414A:p.L472M,SEMA3F:NM_004186:exon14:c.T1507A:p.L503M 0.77 0.59 0.75 0.99 0.67 0.89 0.7380 0.6071 0.8420 0.9944 0.7552 0.6707 0.7271 0.8781 0.63 0.6 0.65 0.65 0.7 rs1046956 COSM3760153 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.73 0.043 T 0.002 0.154 B 0.004 0.149 B 0.013 0.288 N 1.000 0.090 P -0.26 0.038 N 2.8 0.111 T 0.56 0.027 N 0.039 0.032 -0.968 0.377 T 0.000 0.000 T . . . 0.333 0.126 6.012 0.094 0.001 0.292 0.235 N c -1.365 -1.165 1.000 0.422 0.707 0.730 0 0.291 0.149 1.123 0.307 -0.540 0.048 0.660 0.280 0.961 0.442 3.531 0.073 Sema domain|WD40/YVTN repeat-like-containing domain ENSG00000004534.10|ENSG00000186792.11|ENSG00000004534.10|ENSG00000004534.10|ENSG00000186792.11|ENSG00000164068.11|ENSG00000164078.8|ENSG00000004534.10|ENSG00000186792.11|ENSG00000145022.4|ENSG00000004534.10|ENSG00000004534.10|ENSG00000186792.11|ENSG00000004534.10|ENSG00000186792.11|ENSG00000004534.10|ENSG00000004534.10|ENSG00000186792.11|ENSG00000004534.10|ENSG00000004534.10|ENSG00000234667.1|ENSG00000004534.10|ENSG00000243477.1|ENSG00000004534.10|ENSG00000004534.10|ENSG00000188338.10|ENSG00000004534.10|ENSG00000012171.13|ENSG00000186792.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.7415 0.6013 0.8178 0.6872 0.9938 0.7486 0.6656 0.7111 0.8785 0.6815 0.6051 0.7866 0.6678 0.9957 0.7530 0.6664 0.7234 hom 1475.65 44 3 50222926 . T A 1475.65 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;QD=33.54;VQSLOD=9.0955;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1509,123,0 3 50332697 50332697 G A exonic HYAL3 nonsynonymous SNV HYAL3:NM_001200029:exon2:c.C337T:p.H113Y,HYAL3:NM_001200030:exon2:c.C337T:p.H113Y,HYAL3:NM_003549:exon2:c.C337T:p.H113Y 0.24 0.13 0.35 0.085 0.46 0.26 0.3689 0.1521 0.2868 0.0966 0.4228 0.4738 0.3819 0.2599 0.38 0.17 0.48 0.24 0.34 rs13100173 COSM3760155 1(urinary_tract);7(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.291 0.234 T 0.534 0.359 P 0.15 0.325 B 0.403 0.045 U 1 0.090 P 1.01 0.254 L 1.97 0.221 T -1.03 0.305 N 0.029 0.313 -0.916 0.461 T 0.000 0.000 T . . . 0.636 0.155 8.401 0.835 0.142 0.122 0.169 N c -0.685 -0.724 0.986 0.309 0.554 0.283 0 1.65 0.229 0.447 0.213 0.124 0.212 0.006 0.172 0.368 0.249 8.069 0.297 Aldolase-type TIM barrel|Glycoside hydrolase superfamily ENSG00000243477.1|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000164068.11|ENSG00000243477.1|ENSG00000186792.11|ENSG00000243477.1|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000243477.1|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000243477.1|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000188338.10|ENSG00000186792.11|ENSG00000186792.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.3707 0.1485 0.3037 0.4226 0.0920 0.4258 0.4787 0.3979 0.2579 0.3508 0.1615 0.3067 0.52 0.0699 0.4267 0.4695 0.4012 het 1712.12 135 3 50332697 . G A 1712.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.165;DP=135;Dels=0.00;FS=12.664;HRun=0;HaplotypeScore=2.7227;MQ=59.83;MQ0=0;MQRankSum=-1.696;QD=12.68;ReadPosRankSum=-2.424;VQSLOD=2.7738;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,63:135:99:1742,0,1976 3 50357869 50357869 A C exonic HYAL2 nonsynonymous SNV HYAL2:NM_003773:exon2:c.T52G:p.S18A,HYAL2:NM_033158:exon3:c.T52G:p.S18A 0.74 0.93 0.82 0.79 0.65 0.45 0.6796 0.8928 0.8509 0.7665 0.6342 0.6504 0.6549 0.4555 0.73 0.88 0.64 0.85 0.48 rs709210 COSM1162360 2(urinary_tract);1(pancreas);1(liver);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.394 N 1 0.090 P -0.995 0.012 N 2.62 0.280 T 0.27 0.070 N 0.199 0.244 -0.950 0.410 T 0.000 0.000 T . . . -1.149 0.027 0.008 0.563 0.054 0.004 0.021 N c -1.167 -0.984 1.000 0.517 0.628 0.401 0 3.74 0.419 0.007 0.130 -0.327 0.075 0.002 0.151 0.871 0.364 5.350 0.152 . ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000004534.10|ENSG00000186792.11|ENSG00000004534.10|ENSG00000186792.11|ENSG00000164068.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000004534.10|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000004534.10|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000243477.1|ENSG00000186792.11|ENSG00000004534.10|ENSG00000186792.11|ENSG00000186792.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid|Whole_Blood 0.6742 0.8948 0.8514 0.6503 0.7694 0.6276 0.6457 0.6673 0.4239 0.7208 0.8940 0.8556 0.6921 0.7732 0.6327 0.6334 0.6350 het 505.22 29 3 50357869 . A C 505.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.296;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9717;MQ=60.00;MQ0=0;MQRankSum=-0.148;QD=17.42;ReadPosRankSum=1.377;VQSLOD=5.4328;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,20:29:99:535,0,209 3 50597092 50597092 G A exonic C3orf18 nonsynonymous SNV C3orf18:NM_001171740:exon5:c.C485T:p.A162V,C3orf18:NM_001171741:exon5:c.C485T:p.A162V,C3orf18:NM_001171743:exon5:c.C425T:p.A142V,C3orf18:NM_016210:exon6:c.C485T:p.A162V 0.83 0.64 0.84 0.94 0.88 0.92 0.8753 0.7059 0.9200 0.9301 0.875 0.8761 0.8635 0.9164 0.81 0.69 0.87 0.75 0.65 rs1034405 . . . . . . . . . . . . . 0.0 0.912 D 0.998 0.899 D 0.857 0.875 P 0.000 0.843 D 0.000 0.588 P 1.975 0.537 M 0.91 0.576 T -0.58 0.187 N 0.191 0.603 -1.053 0.135 T 0.000 0.000 T . . . 6.852 0.928 33 0.999 0.957 0.982 0.803 D c 0.419 0.393 1.000 0.747 0.706 0.609 0 5.06 0.677 6.514 0.735 1.048 0.713 1.000 0.715 0.666 0.302 16.217 0.820 . ENSG00000114735.5|ENSG00000114735.5|ENSG00000114735.5|ENSG00000114735.5|ENSG00000114735.5|ENSG00000114735.5|ENSG00000114735.5|ENSG00000088543.10|ENSG00000114735.5|ENSG00000114378.12|ENSG00000114735.5|ENSG00000088538.12|ENSG00000114735.5|ENSG00000273356.1|ENSG00000007402.7|ENSG00000145050.11 Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.8766 0.6727 0.9123 0.9325 0.9308 0.8695 0.8667 0.8833 0.9135 0.8138 0.6804 0.8998 0.9272 0.9266 0.8715 0.8560 0.8554 hom 456.09 18 3 50597092 . G A 456.09 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.56;MQ0=0;QD=25.34;VQSLOD=7.4034;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:36.12:489,36,0 3 50609624 50609624 T G exonic HEMK1 synonymous SNV HEMK1:NM_001317851:exon4:c.T399G:p.P133P,HEMK1:NM_016173:exon4:c.T399G:p.P133P 0.76 0.76 0.63 0.59 0.88 0.89 0.8070 0.7645 0.5392 0.6033 0.8480 0.8590 0.8382 0.8954 0.83 0.77 0.86 0.74 0.75 rs2232248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7954 0.7580 0.5423 0.9112 0.5951 0.8498 0.8575 0.8242 0.8959 0.7976 0.7470 0.5562 0.9073 0.5879 0.8477 0.8473 0.8272 hom 1845.46 61 3 50609624 . T G 1845.46 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=30.25;VQSLOD=8.9773;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:61:99:1878,147,0 3 51895693 51895693 G A exonic IQCF2 nonsynonymous SNV IQCF2:NM_203424:exon1:c.G11A:p.R4Q 0.02 0.0015 0.037 . 0.068 0.0061 0.0481 0.0111 0.0234 0.0001 0.0587 0.0716 0.0497 0.0151 0.051 0.013 0.07 0.011 0.057 rs114750576 . . . . . . . . . . . . . 0.085 0.327 T 0.01 0.144 B 0.002 0.063 B 0.060 0.021 N 1 0.090 N 1.01 0.254 L 1.49 0.315 T -0.03 0.075 N 0.039 0.072 -1.057 0.125 T 0.003 0.008 T . . . 0.100 0.103 3.606 0.899 0.186 0.004 0.020 N c -1.558 -1.662 1.000 0.747 0.487 0.133 0 -8.26 0.009 -3.379 0.005 -1.706 0.008 0.000 0.063 0.049 0.163 3.630 0.076 . ENSG00000168268.6|ENSG00000168268.6 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg 0.0479 0.0107 0.0280 0.0530 0.0001 0.0616 0.0721 0.0503 0.0151 0.0456 0.0116 0.0298 0.0733 0 0.0601 0.0673 0.0458 het 800.41 77 3 51895693 . G A 800.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.473;DP=77;Dels=0.00;FS=5.884;HRun=1;HaplotypeScore=2.9895;MQ=59.03;MQ0=0;MQRankSum=0.578;QD=10.39;ReadPosRankSum=-0.036;VQSLOD=5.0072;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,35:77:99:830,0,1038 3 51978220 51978220 A G exonic PARP3 nonsynonymous SNV PARP3:NM_001003931:exon3:c.A320G:p.H107R,PARP3:NM_005485:exon3:c.A299G:p.H100R 1. 1. 1. 1. 0.99 1. 0.9927 0.9979 0.9963 1 0.9944 0.9900 0.9922 0.9934 0.99 1. 0.99 1. 0.92 rs28547534 COSM4158190;COSM4158189 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9930 0.9979 0.9974 0.9983 0.9999 0.9952 0.9892 0.9934 0.9926 0.9937 0.9977 0.9928 1 1 0.9946 0.9907 0.9908 hom 8430.93 248 3 51978220 . A G 8430.93 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7214;MQ=59.30;MQ0=0;QD=34.00;VQSLOD=8.6722;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:8430,674,0 3 51990315 51990315 A G exonic GPR62 nonsynonymous SNV GPR62:NM_080865:exon1:c.A647G:p.H216R 1. 1. 1. 1. 0.99 1. 0.9954 0.9984 0.9986 0.9999 0.9979 0.9928 0.9936 0.9979 0.99 1. 0.99 0.076 0.31 rs28651222 COSM4158191 3(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.006 0.325 N 0.989 0.244 P -1.975 0.002 N 4.14 0.029 T 3.23 0.001 N 0.061 0.045 -0.999 0.302 T 0.000 0.000 T . . . -0.474 0.057 0.255 0.715 0.094 0.023 0.065 N c -0.945 -0.664 1.000 0.747 0.437 0.062 0 4.59 0.561 5.081 0.640 0.062 0.168 1.000 0.715 0.326 0.242 10.110 0.415 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9957 0.9987 0.9987 0.9989 0.9999 0.9980 0.9925 0.9965 0.9973 0.9958 0.9983 0.9939 1 1 0.9974 0.9938 0.9939 hom 421.26 16 3 51990315 . A G 421.26 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.63;MQ0=0;QD=26.33;VQSLOD=6.9640;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:39.09:454,39,0 3 52027853 52027853 - CCTTGG exonic RPL29 nonframeshift insertion RPL29:NM_000992:exon4:c.391_392insCCAAGG:p.K130_D131insAK 0.2 0.018 0.23 0.26 0.3 0.27 0.2474 0.0520 0.1715 0.2298 0.2549 0.2859 0.2372 0.2592 0.19 0.075 0.26 . . rs777865129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2444 0.0528 0.1795 0.2984 0.2463 0.2333 0.2867 0.2438 0.2389 0.2457 0.0662 0.2254 0.3741 0.2758 0.2913 0.3294 0.3320 het 618.75 64 3 52027853 . T TCCTTGG 618.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.181;DP=64;FS=14.678;HRun=0;HaplotypeScore=340.9128;MQ=48.79;MQ0=0;MQRankSum=-0.757;QD=8.71;ReadPosRankSum=-0.666;set=variant2 GT:AD:DP:GQ:PL 0/1:57,11:64:99:658,0,1598 3 52237970 52237970 C T exonic ALAS1 synonymous SNV ALAS1:NM_001304443:exon4:c.C519T:p.I173I,ALAS1:NM_199166:exon4:c.C519T:p.I173I,ALAS1:NM_000688:exon5:c.C519T:p.I173I,ALAS1:NM_001304444:exon5:c.C570T:p.I190I 0.4 0.26 0.49 0.39 0.53 0.39 0.4812 0.3081 0.5145 0.3805 0.4914 0.5387 0.4934 0.3822 0.47 0.33 0.55 0.46 0.48 rs352168 COSM4002738 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4852 0.3047 0.5239 0.5454 0.3714 0.4982 0.5363 0.4908 0.3804 0.4517 0.3021 0.4856 0.5033 0.3517 0.4757 0.5395 0.4756 het 1560.66 131 3 52237970 . C T 1560.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.698;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7264;MQ=58.88;MQ0=0;MQRankSum=-1.730;QD=11.91;ReadPosRankSum=0.986;VQSLOD=5.0820;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,60:131:99:1591,0,1933 3 52256697 52256697 C T exonic TLR9 synonymous SNV TLR9:NM_017442:exon2:c.G1635A:p.P545P 0.42 0.29 0.5 0.39 0.55 0.42 0.4921 0.3316 0.5169 0.3796 0.4821 0.5472 0.5033 0.4156 0.48 0.35 0.55 0.49 0.52 rs352140 COSM4158193 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4953 0.3342 0.5261 0.5535 0.3721 0.4915 0.5446 0.4980 0.4165 0.4580 0.3295 0.4952 0.5331 0.3496 0.4567 0.5402 0.4745 het 1332.31 97 3 52256697 . C T 1332.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.363;DP=97;Dels=0.00;FS=0.768;HRun=0;HaplotypeScore=2.8300;MQ=58.90;MQ0=0;MQRankSum=0.169;QD=13.74;ReadPosRankSum=-1.085;VQSLOD=6.3256;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,49:97:99:1362,0,1128 3 52365225 52365225 C T exonic DNAH1 synonymous SNV DNAH1:NM_015512:exon7:c.C933T:p.D311D 0.0008 . 0.0029 . 0.002 . 0.0049 0.0010 0.0066 0.0004 0.0018 0.0072 0.006 0.0006 0.0041 0.0007 0.0057 . . rs199505182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0034 0.0008 0.0042 0.0001 0.0002 0.0007 0.0057 0.0028 0.0005 0.0031 0.0016 0.0036 0 0.0006 0 0.0050 0.0020 het 112.22 18 3 52365225 . C T 112.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.281;DP=18;Dels=0.00;FS=2.251;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.591;QD=6.23;ReadPosRankSum=1.281;VQSLOD=3.0194;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,5:18:99:142,0,331 3 52407041 52407041 C T exonic DNAH1 synonymous SNV DNAH1:NM_015512:exon44:c.C6957T:p.H2319H 0.2 0.013 0.27 0.18 0.35 0.28 0.2896 0.0551 0.2441 0.1727 0.3555 0.3465 0.3265 0.2614 0.24 0.062 0.33 0.14 . rs1546737 COSM4158204;COSM4158203 1(thyroid) Benign not_specified RCV000455531.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2880 0.0510 0.2508 0.3731 0.1689 0.3635 0.3351 0.2990 0.2597 0.2452 0.0577 0.2685 0.3609 0.1556 0.3176 0.3405 0.2939 het 897.22 57 3 52407041 . C T 897.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.074;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=59.19;MQ0=0;MQRankSum=0.233;QD=15.74;ReadPosRankSum=-0.426;VQSLOD=6.4095;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,32:57:99:927,0,500 3 52430698 52430698 A G exonic DNAH1 nonsynonymous SNV DNAH1:NM_015512:exon72:c.A11495G:p.H3832R 1. 0.99 1. 1. 1. 1. 0.9986 0.9846 0.9995 1 1 0.9998 0.9989 0.9999 1. 0.99 1. 0.98 . rs365048 . . Benign not_specified RCV000454486.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9832 0.9994 0.9999 1 1.0000 0.9999 0.9996 1.0000 0.9951 0.9829 1 1 1 0.9997 0.9999 1 hom 5655.22 190 3 52430698 . A G 5655.22 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7355;MQ=58.72;MQ0=0;QD=29.76;VQSLOD=6.9094;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:5654,475,0 3 52453893 52453893 C T exonic PHF7 synonymous SNV PHF7:NM_001278221:exon5:c.C231T:p.G77G,PHF7:NM_001321126:exon5:c.C231T:p.G77G,PHF7:NM_001321127:exon5:c.C231T:p.G77G,PHF7:NM_016483:exon5:c.C231T:p.G77G 0.97 0.99 0.94 0.98 0.94 0.98 0.9632 0.9841 0.9718 0.9814 0.9696 0.9520 0.9530 0.9785 0.96 0.98 0.95 0.97 0.86 rs498778 . . . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 1.296 0.220 12.25 0.646 0.073 0.092 0.148 N c -0.228 -0.200 0.105 0.165 0.554 0.246 0 0.502 0.161 0.041 0.137 0.090 0.195 0.998 0.411 0.988 0.529 0.846 0.011 . ENSG00000010327.6|ENSG00000010322.11|ENSG00000168268.6 Lung|Thyroid|Whole_Blood 0.9626 0.9857 0.9664 0.9709 0.9822 0.9675 0.9492 0.9525 0.9803 0.9679 0.9879 0.9617 0.9603 0.9809 0.9674 0.9558 0.9622 hom 712.49 27 3 52453893 . C T 712.49 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.39;VQSLOD=13.3882;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:57.18:745,57,0 3 52469628 52469628 C T exonic SEMA3G synonymous SNV SEMA3G:NM_020163:exon16:c.G2340A:p.E780E 0.014 0.003 0.014 . 0.05 0.0051 0.0387 0.0088 0.0180 0 0.0628 0.0555 0.0482 0.0116 0.035 0.011 0.048 0.011 0.041 rs61729091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0383 0.0078 0.0212 0.0509 0.0001 0.0646 0.0545 0.0440 0.0110 0.0384 0.0108 0.0298 0.0662 0 0.0630 0.0519 0.0542 het 1336.49 117 3 52469628 . C T 1336.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.238;DP=117;Dels=0.00;FS=0.729;HRun=1;HaplotypeScore=3.7224;MQ=57.50;MQ0=0;MQRankSum=-1.142;QD=11.42;ReadPosRankSum=-0.726;VQSLOD=3.5556;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,53:117:99:1366,0,1804 3 52476246 52476246 G A exonic SEMA3G synonymous SNV SEMA3G:NM_020163:exon4:c.C414T:p.A138A 0.0098 0.0008 0.01 . 0.036 0.0051 0.0279 0.0061 0.0105 0 0.0627 0.0395 0.0391 0.0085 0.028 0.0079 0.038 0.011 0.033 rs34900551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0284 0.0049 0.0133 0.0214 5.806e-05 0.0594 0.0404 0.0289 0.0090 0.0302 0.0068 0.0191 0.0298 0 0.0590 0.0405 0.0388 het 512.81 38 3 52476246 . G A 512.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.915;DP=38;Dels=0.00;FS=1.541;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.073;QD=13.50;ReadPosRankSum=-0.161;VQSLOD=5.8344;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,20:38:99:543,0,519 3 52492707 52492707 T C exonic NISCH synonymous SNV NISCH:NM_001276293:exon3:c.T207C:p.N69N,NISCH:NM_001276294:exon3:c.T207C:p.N69N,NISCH:NM_007184:exon3:c.T207C:p.N69N 0.96 0.96 0.93 0.98 0.93 0.96 0.9535 0.9549 0.9679 0.9815 0.9682 0.9448 0.9492 0.9575 0.95 0.96 0.94 0.95 0.9 rs1541495 COSM5021398;COSM5021399 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9538 0.9567 0.9611 0.9691 0.9813 0.9657 0.9417 0.9461 0.9608 0.9550 0.9563 0.9582 0.9603 0.9797 0.9656 0.9488 0.9542 hom 1918.44 63 3 52492707 . T C 1918.44 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=30.45;VQSLOD=8.9888;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1951,147,0 3 52510592 52510592 G A exonic NISCH nonsynonymous SNV NISCH:NM_001276293:exon8:c.G895A:p.V299I,NISCH:NM_001276294:exon8:c.G895A:p.V299I,NISCH:NM_007184:exon8:c.G895A:p.V299I 0.99 1. 0.99 1. 0.98 1. 0.9859 0.9966 0.9936 1 0.9867 0.9787 0.9769 0.9952 0.98 1. 0.98 0.99 0.99 rs9856575 COSM4158216;COSM4158217 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.001 0.112 B 0.0 0.040 B 0.000 0.843 N 1.000 0.090 P -1.65 0.004 N 0.7 0.515 T 0.93 0.016 N 0.085 0.174 -0.963 0.386 T 0.000 0.000 T . . . 0.676 0.158 8.668 0.439 0.033 0.175 0.197 N c -1.009 -0.709 1.000 0.489 0.707 0.730 0 3.2 0.357 5.743 0.681 -0.110 0.115 1.000 0.715 0.961 0.442 6.274 0.201 Leucine-rich repeat domain\x2c L domain-like . . 0.9861 0.9975 0.9918 0.9894 1 0.9860 0.9778 0.9854 0.9953 0.9880 0.9961 0.9928 0.9868 1 0.9842 0.9832 0.9786 hom 3015.62 105 3 52510592 . G A 3015.62 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.78;MQ0=0;QD=28.72;VQSLOD=8.6572;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3049,238,0 3 52540773 52540773 T C exonic STAB1 synonymous SNV STAB1:NM_015136:exon18:c.T1896C:p.G632G 0.64 0.86 0.43 0.54 0.47 0.76 0.5426 0.8255 0.3954 0.5577 0.4795 0.4765 0.4977 0.7491 0.59 0.82 0.48 0.65 0.55 rs1010553 COSM4417980 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5262 0.8293 0.3886 0.5033 0.5581 0.4576 0.4764 0.5198 0.7455 0.5808 0.8204 0.4175 0.5132 0.5750 0.4874 0.4779 0.5215 het 1493.20 99 3 52540773 . T C 1493.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.453;DP=99;Dels=0.00;FS=9.810;HRun=0;HaplotypeScore=2.4968;MQ=59.34;MQ0=0;MQRankSum=-0.946;QD=15.08;ReadPosRankSum=0.337;VQSLOD=4.4533;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,54:99:99:1523,0,1024 3 52544470 52544470 A G exonic STAB1 nonsynonymous SNV STAB1:NM_015136:exon25:c.A2734G:p.M912V 0.99 1. 0.99 1. 0.97 0.99 0.9839 0.9964 0.9931 1 0.9854 0.9764 0.9731 0.9910 0.98 1. 0.98 0.98 0.99 rs9835659 . . . . . . . . . . . . . 0.324 0.134 T 0.0 0.026 B 0.0 0.013 B 0.119 0.027 N 1 0.090 P -0.345 0.033 N -1.79 0.838 D 0.01 0.069 N 0.027 0.009 -0.959 0.394 T 0.000 0.000 T . . . -2.107 0.007 0.001 0.324 0.019 0.058 0.116 N c -1.731 -1.741 0.542 0.213 0.707 0.730 0 -5.18 0.026 0.559 0.230 -1.916 0.006 0.000 0.063 0.004 0.083 12.820 0.569 EGF-like domain . . 0.9842 0.9973 0.9912 0.9856 1 0.9841 0.9759 0.9823 0.9910 0.9863 0.9956 0.9940 0.9834 0.9994 0.9822 0.9807 0.9756 hom 2562.65 79 3 52544470 . A G 2562.65 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4476;MQ=59.45;MQ0=0;QD=32.44;VQSLOD=9.5351;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:79:99:2596,217,0 3 52554304 52554304 G C exonic STAB1 nonsynonymous SNV STAB1:NM_015136:exon52:c.G5497C:p.A1833P 0.98 1. 0.98 1. 0.96 0.97 0.9600 0.9887 0.9843 1 0.9682 0.9453 0.9667 0.9593 0.96 0.99 0.94 0.99 0.93 rs7630214 . . . . . . . . . . . . . 0.236 0.179 T 0.0 0.026 B 0.0 0.013 B 0.050 0.231 N 1 0.090 P -0.35 0.031 N -2.79 0.910 D 1.15 0.012 N 0.03 0.011 -0.943 0.421 T 0.000 0.000 T . . . 0.951 0.185 10.38 0.923 0.211 0.005 0.024 N c -0.848 -0.699 1.000 0.480 0.672 0.522 0 5.15 0.702 0.057 0.140 0.067 0.174 0.000 0.063 0.248 0.227 14.392 0.664 FAS1 domain . . 0.9602 0.9887 0.9850 0.9750 0.9997 0.9680 0.9398 0.9605 0.9591 0.9572 0.9871 0.9773 0.9868 1 0.9656 0.9313 0.9613 hom 6002.36 178 3 52554304 . G C 6002.36 Mask AC=2;AF=1.00;AN=2;DP=178;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=59.33;MQ0=0;QD=33.72;VQSLOD=9.1942;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:6002,475,0 3 52555957 52555957 T C exonic STAB1 synonymous SNV STAB1:NM_015136:exon58:c.T6261C:p.R2087R 0.56 0.75 0.66 0.46 0.56 0.35 0.5555 0.7106 0.6534 0.4575 0.5522 0.5718 0.5729 0.3623 0.61 0.7 0.57 0.56 0.44 rs9853056 COSM446839 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5521 0.7125 0.6591 0.5517 0.4552 0.5580 0.5678 0.5452 0.3485 0.5968 0.7145 0.6372 0.5433 0.4391 0.5255 0.5642 0.5440 het 724 69 3 52555957 . T C 724 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.650;DP=69;Dels=0.00;FS=4.861;HRun=0;HaplotypeScore=1.3123;MQ=58.78;MQ0=0;MQRankSum=0.225;QD=10.49;ReadPosRankSum=-0.650;VQSLOD=5.7362;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,29:69:99:754,0,997 3 52556890 52556890 A G exonic STAB1 nonsynonymous SNV STAB1:NM_015136:exon62:c.A6844G:p.I2282V 0.34 0.15 0.5 0.44 0.47 0.25 0.4292 0.1858 0.5742 0.4385 0.4862 0.4776 0.4631 0.2562 0.38 0.19 0.47 0.24 0.4 rs4434138 COSM4002740 2(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.242 0.176 T 0.003 0.102 B 0.009 0.133 B 0.085 0.207 N 0.999 0.221 P -0.49 0.026 N 3.66 0.043 T -0.48 0.154 N 0.018 0.003 -0.989 0.329 T 0.000 0.000 T . . . 0.278 0.121 5.483 0.912 0.199 0.619 0.313 D c -0.778 -0.663 0.999 0.371 0.672 0.522 0 -0.467 0.115 0.978 0.289 -0.067 0.120 0.912 0.315 0.172 0.211 9.865 0.401 C-type lectin fold|C-type lectin-like|Link domain ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000163939.14|ENSG00000239799.1|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000243696.4|ENSG00000243696.4|ENSG00000163938.12|ENSG00000114904.8|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000168268.6|ENSG00000243696.4|ENSG00000168268.6|ENSG00000168268.6|ENSG00000239799.1|ENSG00000114904.8|ENSG00000168268.6|ENSG00000243696.4|ENSG00000168268.6|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000163939.14|ENSG00000243696.4|ENSG00000114904.8|ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4 Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4401 0.1828 0.5695 0.4919 0.4357 0.4990 0.4706 0.4323 0.2608 0.3932 0.1937 0.5239 0.4834 0.4184 0.4662 0.4782 0.4344 het 2161.42 174 3 52556890 . A G 2161.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.717;DP=174;Dels=0.00;FS=0.591;HRun=0;HaplotypeScore=4.2905;MQ=59.79;MQ0=0;MQRankSum=0.466;QD=12.42;ReadPosRankSum=-0.018;VQSLOD=5.1535;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,84:174:99:2191,0,2472 3 52558008 52558008 T C exonic STAB1 nonsynonymous SNV STAB1:NM_015136:exon67:c.T7517C:p.M2506T 0.55 0.71 0.65 0.45 0.57 0.33 0.5453 0.6674 0.6520 0.4534 0.5473 0.5714 0.5564 0.3395 0.6 0.65 0.57 0.54 0.42 rs13303 COSM3760167 2(large_intestine) . . . . . . . . . . . 0.781 0.033 T 0.0 0.026 B 0.0 0.013 B 0.698 0.062 N 1 0.090 P -1.79 0.003 N -1.77 0.837 D 1.77 0.005 N 0.041 0.469 -0.945 0.418 T 0.000 0.000 T . . . -1.320 0.021 0.004 0.517 0.045 0.006 0.028 N c -1.496 -1.356 1.000 0.747 0.672 0.522 0 3.6 0.402 -0.312 0.081 -0.326 0.075 0.000 0.063 0.015 0.124 6.319 0.203 . ENSG00000272573.1|ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000163939.14|ENSG00000239799.1|ENSG00000114904.8|ENSG00000163938.12|ENSG00000163938.12|ENSG00000168237.13|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000163939.14|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000168237.13|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000242797.2|ENSG00000114904.8|ENSG00000239799.1|ENSG00000243696.4|ENSG00000168268.6|ENSG00000114904.8|ENSG00000168268.6|ENSG00000168237.13|ENSG00000168268.6|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000242797.2|ENSG00000163939.14|ENSG00000114904.8|ENSG00000168237.13|ENSG00000242797.2|ENSG00000239799.1 Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5470 0.6669 0.6576 0.5466 0.4531 0.5561 0.5678 0.5409 0.3397 0.5832 0.6675 0.6328 0.5397 0.4400 0.5261 0.5635 0.5441 het 917.40 71 3 52558008 . T C 917.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.099;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=58.28;MQ0=0;MQRankSum=1.439;QD=12.92;ReadPosRankSum=0.864;VQSLOD=5.6183;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,34:71:99:947,0,937 3 52558133 52558133 T C exonic STAB1 synonymous SNV STAB1:NM_015136:exon68:c.T7560C:p.D2520D 0.39 0.33 0.51 0.43 0.47 0.27 0.4369 0.3193 0.5781 0.4346 0.4707 0.4683 0.4592 0.2723 0.41 0.31 0.47 0.29 0.41 rs13621 COSM4002742 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4455 0.3160 0.5745 0.4923 0.4338 0.4813 0.4624 0.4333 0.2760 0.4231 0.3240 0.5335 0.4868 0.4194 0.4471 0.4674 0.4356 het 3149.58 250 3 52558133 . T C 3149.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.632;DP=250;DS;Dels=0.00;FS=2.439;HRun=0;HaplotypeScore=5.4198;MQ=59.27;MQ0=0;MQRankSum=1.134;QD=12.60;ReadPosRankSum=1.523;VQSLOD=4.2515;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:3180,0,3645 3 52584787 52584787 T C exonic PBRM1 synonymous SNV PBRM1:NM_001350075:exon28:c.A4491G:p.P1497P,PBRM1:NM_018313:exon28:c.A4335G:p.P1445P,PBRM1:NM_181042:exon28:c.A4335G:p.P1445P,PBRM1:NM_001350079:exon29:c.A4323G:p.P1441P,PBRM1:NM_001350074:exon30:c.A4443G:p.P1481P,PBRM1:NM_001350076:exon30:c.A4440G:p.P1480P,PBRM1:NM_001350078:exon30:c.A4443G:p.P1481P,PBRM1:NM_001350077:exon31:c.A4434G:p.P1478P 0.32 0.15 0.47 0.43 0.42 0.25 0.3822 0.1724 0.5407 0.4314 0.3971 0.4142 0.4004 0.2414 0.33 0.17 0.41 0.23 0.33 rs2251219 COSM4002745;COSM4002744;COSM4002743 1(haematopoietic_and_lymphoid_tissue);16(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3916 0.1691 0.5351 0.4545 0.4311 0.4064 0.4058 0.3859 0.2429 0.3415 0.1782 0.4904 0.4396 0.4148 0.3605 0.4115 0.3781 het 553.59 62 3 52584787 . T C 553.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.869;DP=62;Dels=0.00;FS=3.634;HRun=2;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=0.600;QD=8.93;ReadPosRankSum=0.238;VQSLOD=5.7520;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,24:62:99:584,0,988 3 52610651 52610651 T A exonic PBRM1 synonymous SNV PBRM1:NM_001350075:exon23:c.A3597T:p.P1199P,PBRM1:NM_018313:exon23:c.A3522T:p.P1174P,PBRM1:NM_181042:exon24:c.A3597T:p.P1199P,PBRM1:NM_001350079:exon25:c.A3585T:p.P1195P,PBRM1:NM_001350074:exon26:c.A3705T:p.P1235P,PBRM1:NM_001350076:exon26:c.A3702T:p.P1234P,PBRM1:NM_001350078:exon26:c.A3705T:p.P1235P,PBRM1:NM_001350077:exon27:c.A3696T:p.P1232P 0.32 0.15 0.46 0.43 0.42 0.22 0.3752 0.1731 0.5394 0.4304 0.3953 0.4087 0.3987 0.2138 0.33 0.17 0.4 0.23 0.3 rs17264436 COSM4002746;COSM4002748;COSM4002747 1(haematopoietic_and_lymphoid_tissue);16(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3837 0.1685 0.5308 0.4522 0.4277 0.4045 0.3996 0.3789 0.2153 0.3383 0.1784 0.4868 0.4470 0.4127 0.3580 0.4059 0.3714 het 863.75 72 3 52610651 . T A 863.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.533;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8934;MQ=60.00;MQ0=0;MQRankSum=1.264;QD=12.00;ReadPosRankSum=0.584;VQSLOD=5.4221;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,32:72:99:894,0,1052 3 52643685 52643685 T C exonic PBRM1 synonymous SNV PBRM1:NM_001350075:exon17:c.A2211G:p.T737T,PBRM1:NM_018313:exon17:c.A2211G:p.T737T,PBRM1:NM_181042:exon18:c.A2211G:p.T737T,PBRM1:NM_001350079:exon19:c.A2274G:p.T758T,PBRM1:NM_001350074:exon20:c.A2319G:p.T773T,PBRM1:NM_001350076:exon20:c.A2319G:p.T773T,PBRM1:NM_001350078:exon20:c.A2319G:p.T773T,PBRM1:NM_001350077:exon21:c.A2310G:p.T770T 0.32 0.15 0.46 0.43 0.42 0.25 0.3820 0.1739 0.5411 0.4313 0.3964 0.4140 0.3976 0.2393 0.33 0.17 0.41 0.24 0.32 rs3755806 COSM1566685;COSM1566683;COSM1566684 2(haematopoietic_and_lymphoid_tissue);16(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3913 0.1704 0.5347 0.4545 0.4303 0.4062 0.4059 0.3842 0.2405 0.3418 0.1795 0.4881 0.4470 0.4126 0.3603 0.4115 0.3778 het 2532.10 182 3 52643685 . T C 2532.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.191;DP=182;Dels=0.00;FS=0.563;HRun=0;HaplotypeScore=0.9947;MQ=59.53;MQ0=0;MQRankSum=-0.245;QD=13.91;ReadPosRankSum=1.418;VQSLOD=6.4295;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,100:182:99:2562,0,1993 3 52721305 52721305 G A exonic GNL3 nonsynonymous SNV GNL3:NM_014366:exon3:c.G116A:p.R39Q,GNL3:NM_206825:exon3:c.G80A:p.R27Q,GNL3:NM_206826:exon3:c.G80A:p.R27Q 0.31 0.15 0.46 0.42 0.42 0.21 0.3749 0.1757 0.5396 0.4299 0.3954 0.4096 0.3954 0.2027 0.32 0.17 0.4 0.24 0.3 rs11177 COSM4002752 1(haematopoietic_and_lymphoid_tissue) . . . . . Osteoarthritis 1.09 . 22763110 rs11177 5E-9 0.434 0.142 T 0.064 0.220 B 0.015 0.162 B 0.002 0.369 N 0.695 0.301 P 1.32 0.331 L 0.99 0.418 T -1.13 0.299 N 0.087 0.234 -0.901 0.480 T 0.000 0.000 T . . . 3.359 0.462 22.9 0.994 0.649 0.888 0.487 D c -0.374 -0.204 1.000 0.500 0.628 0.401 0 1.92 0.248 2.850 0.477 0.135 0.219 1.000 0.715 0.991 0.552 8.986 0.350 Guanine nucleotide-binding protein-like 3\x2c N-terminal domain ENSG00000243696.4|ENSG00000114904.8|ENSG00000272573.1|ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000239799.1|ENSG00000163939.14|ENSG00000239799.1|ENSG00000114904.8|ENSG00000163938.12|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000114904.8|ENSG00000164091.7|ENSG00000163938.12|ENSG00000168268.6|ENSG00000243696.4|ENSG00000168237.13|ENSG00000243696.4|ENSG00000163938.12|ENSG00000163938.12|ENSG00000168237.13|ENSG00000242797.2|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000239799.1|ENSG00000114904.8|ENSG00000168237.13|ENSG00000243696.4|ENSG00000168268.6|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000242797.2|ENSG00000163939.14|ENSG00000243696.4|ENSG00000114904.8|ENSG00000168268.6|ENSG00000168237.13|ENSG00000239799.1|ENSG00000243696.4 Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3841 0.1701 0.5327 0.4529 0.4283 0.4045 0.4008 0.3802 0.2073 0.3389 0.1788 0.4881 0.4470 0.4132 0.3582 0.4070 0.3686 het 1024.03 73 3 52721305 . G A 1024.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.377;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9996;MQ=59.68;MQ0=0;MQRankSum=-0.569;QD=14.03;ReadPosRankSum=0.712;VQSLOD=6.7196;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,35:73:99:1054,0,968 3 52727257 52727257 G A exonic GNL3 nonsynonymous SNV GNL3:NM_014366:exon11:c.G1099A:p.V367M,GNL3:NM_206825:exon11:c.G1063A:p.V355M,GNL3:NM_206826:exon11:c.G1063A:p.V355M 0.45 0.56 0.51 0.43 0.43 0.28 0.4292 0.5269 0.5662 0.4299 0.4049 0.4331 0.4283 0.2654 0.46 0.52 0.43 0.46 0.36 rs2289247 COSM4002753 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.383 0.125 T 0.0 0.026 B 0.0 0.013 B 0.375 0.044 N 1 0.090 P -0.845 0.015 N 1.46 0.322 T 0.97 0.015 N 0.023 0.048 -0.934 0.436 T 0.000 0.000 T . . . 1.405 0.232 12.82 0.864 0.160 0.114 0.164 N c -1.264 -1.125 1.000 0.458 0.646 0.442 0 0.476 0.159 0.172 0.164 -0.168 0.106 0.001 0.137 0.570 0.283 0.787 0.010 . ENSG00000114904.8|ENSG00000243696.4|ENSG00000114904.8|ENSG00000272573.1|ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000163939.14|ENSG00000239799.1|ENSG00000114904.8|ENSG00000163938.12|ENSG00000163938.12|ENSG00000163938.12|ENSG00000168268.6|ENSG00000163939.14|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000243696.4|ENSG00000168237.13|ENSG00000243696.4|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168237.13|ENSG00000163938.12|ENSG00000168237.13|ENSG00000242797.2|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000243696.4|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000239799.1|ENSG00000114904.8|ENSG00000243696.4|ENSG00000168268.6|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000242797.2|ENSG00000163939.14|ENSG00000243696.4|ENSG00000114904.8|ENSG00000168268.6|ENSG00000168237.13|ENSG00000242797.2|ENSG00000239799.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.4315 0.5251 0.5634 0.4698 0.4300 0.4131 0.4258 0.4188 0.2664 0.4523 0.5285 0.5359 0.4533 0.4155 0.3661 0.4298 0.4126 het 1410.42 120 3 52727257 . G A 1410.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.510;DP=120;Dels=0.00;FS=1.575;HRun=0;HaplotypeScore=2.3249;MQ=59.50;MQ0=0;MQRankSum=1.831;QD=11.75;ReadPosRankSum=0.281;VQSLOD=6.3632;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,54:120:99:1440,0,1971 3 52797634 52797634 G C exonic NEK4 nonsynonymous SNV NEK4:NM_001193533:exon4:c.C406G:p.P136A,NEK4:NM_001348412:exon5:c.C673G:p.P225A,NEK4:NM_001348413:exon5:c.C673G:p.P225A,NEK4:NM_001348414:exon5:c.C427G:p.P143A,NEK4:NM_003157:exon5:c.C673G:p.P225A 0.31 0.13 0.46 0.42 0.42 0.21 0.3727 0.1521 0.5388 0.4286 0.3954 0.4093 0.3932 0.2045 0.32 0.15 0.4 0.23 0.23 rs1029871 COSM4002754 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.018 0.555 D 0.955 0.525 P 0.843 0.585 P 0.001 0.396 N 0.000 0.588 P 1.865 0.494 L 1.79 0.255 T -5.31 0.844 D 0.16 0.321 -0.903 0.477 T 0.000 0.000 T . . . 4.372 0.585 24.1 0.996 0.763 0.841 0.429 D c 0.697 0.752 1.0 0.983 0.707 0.730 0 5.93 0.959 7.649 0.825 1.048 0.713 1.000 0.715 0.996 0.625 20.342 0.988 Protein kinase domain|Protein kinase-like domain;Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain ENSG00000243696.4|ENSG00000114904.8|ENSG00000272573.1|ENSG00000168268.6|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000239799.1|ENSG00000163939.14|ENSG00000239799.1|ENSG00000114904.8|ENSG00000163938.12|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000114904.8|ENSG00000164091.7|ENSG00000163938.12|ENSG00000168268.6|ENSG00000243696.4|ENSG00000168237.13|ENSG00000243696.4|ENSG00000163938.12|ENSG00000163938.12|ENSG00000168237.13|ENSG00000242797.2|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000239799.1|ENSG00000114904.8|ENSG00000168237.13|ENSG00000243696.4|ENSG00000168268.6|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000242797.2|ENSG00000163939.14|ENSG00000243696.4|ENSG00000114904.8|ENSG00000168268.6|ENSG00000168237.13|ENSG00000239799.1|ENSG00000243696.4 Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3819 0.1460 0.5305 0.4543 0.4284 0.4049 0.4016 0.3790 0.2038 0.3322 0.1567 0.4869 0.4470 0.4125 0.3590 0.4062 0.3686 het 1438.12 148 3 52797634 . G C 1438.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.560;DP=148;Dels=0.00;FS=1.969;HRun=0;HaplotypeScore=5.3711;MQ=59.25;MQ0=0;MQRankSum=2.402;QD=9.72;ReadPosRankSum=-2.030;VQSLOD=3.0357;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,56:148:99:1468,0,2589 3 52800284 52800284 T C exonic NEK4 synonymous SNV NEK4:NM_001193533:exon2:c.A201G:p.L67L,NEK4:NM_001348412:exon3:c.A468G:p.L156L,NEK4:NM_001348413:exon3:c.A468G:p.L156L,NEK4:NM_001348414:exon3:c.A222G:p.L74L,NEK4:NM_003157:exon3:c.A468G:p.L156L 0.33 0.15 0.46 0.43 0.42 0.3 0.3880 0.1752 0.5446 0.4328 0.3973 0.4143 0.4018 0.2780 0.33 0.18 0.41 0.24 0.33 rs2230535 COSM4002755 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3973 0.1721 0.5375 0.4549 0.4311 0.4067 0.4063 0.3883 0.2817 0.3425 0.1810 0.4893 0.45 0.4117 0.3607 0.4123 0.3765 het 1704.91 114 3 52800284 . T C 1704.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.551;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;MQRankSum=0.360;QD=14.96;ReadPosRankSum=0.593;VQSLOD=7.2069;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,60:114:99:1735,0,1405 3 52802402 52802402 A C exonic NEK4 synonymous SNV NEK4:NM_001348412:exon2:c.T312G:p.P104P,NEK4:NM_001348413:exon2:c.T312G:p.P104P,NEK4:NM_001348414:exon2:c.T66G:p.P22P,NEK4:NM_003157:exon2:c.T312G:p.P104P 0.33 0.15 0.46 0.43 0.42 0.3 0.3878 0.1752 0.5442 0.4318 0.3970 0.4140 0.4009 0.2785 0.33 0.18 0.41 0.24 0.33 rs2230534 COSM4002756 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3972 0.1722 0.5373 0.4549 0.4303 0.4065 0.4060 0.3884 0.2823 0.3425 0.1807 0.4893 0.4470 0.4157 0.3609 0.4120 0.3765 het 2591.35 250 3 52802402 . A C 2591.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.984;DP=250;DS;Dels=0.00;FS=1.041;HRun=1;HaplotypeScore=6.2569;MQ=59.65;MQ0=0;MQRankSum=-0.461;QD=10.37;ReadPosRankSum=-0.751;VQSLOD=4.5198;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:143,107:250:99:2621,0,4308 3 52821210 52821210 C T exonic ITIH1 nonsynonymous SNV ITIH1:NM_001166435:exon11:c.C1031T:p.P344L,ITIH1:NM_001166436:exon11:c.C1031T:p.P344L,ITIH1:NM_001166434:exon13:c.C1469T:p.P490L,ITIH1:NM_002215:exon15:c.C1895T:p.P632L 0.0006 0.0008 . . 0.002 . 0.0010 0.0005 0.0004 0 0 0.0016 0 0.0003 0.0014 0.0002 0.002 . . rs140154114 COSM6049844 1(large_intestine) . . . . . . . . . . . 0.357 0.210 T 0.001 0.067 B 0.0 0.040 B 0.008 0.012 N 1 0.090 N -0.425 0.029 N 4.84 0.020 T -1.05 0.322 N 0.087 0.625 -0.921 0.454 T 0.003 0.011 T 0.002 0.051 T -0.285 0.070 0.720 0.362 0.023 0.002 0.011 N c -1.891 -1.965 1.000 0.747 0.487 0.133 0 -8.65 0.008 -4.989 0.002 -2.790 0.002 0.000 0.063 0.352 0.246 6.862 0.231 von Willebrand factor\x2c type A . . 0.0011 0.0005 0.0007 0.0001 0 0.0002 0.0020 0.0005 0.0003 0.0015 0.0005 0.0048 0 0 0 0.0025 0.0020 het 1064.14 117 3 52821210 . C T 1064.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.162;DP=117;Dels=0.00;FS=4.770;HRun=0;HaplotypeScore=1.6208;MQ=59.36;MQ0=0;MQRankSum=1.365;QD=9.10;ReadPosRankSum=-0.557;VQSLOD=3.9827;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,43:117:99:1094,0,1875 3 52825585 52825585 T C exonic ITIH1 synonymous SNV ITIH1:NM_001166435:exon17:c.T1683C:p.S561S,ITIH1:NM_001166436:exon17:c.T1683C:p.S561S,ITIH1:NM_001166434:exon19:c.T2121C:p.S707S,ITIH1:NM_002215:exon21:c.T2547C:p.S849S 0.41 0.58 0.47 0.37 0.39 0.2 0.3805 0.5339 0.5463 0.3698 0.3823 0.3746 0.3863 0.1962 0.42 0.52 0.37 0.41 0.31 rs9324 COSM4002758 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3828 0.5345 0.5387 0.3941 0.3673 0.3911 0.3656 0.3738 0.2006 0.4178 0.5292 0.5072 0.3940 0.3614 0.3443 0.3760 0.3544 het 1587.32 153 3 52825585 . T C 1587.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.357;DP=153;Dels=0.00;FS=2.124;HRun=1;HaplotypeScore=1.9853;MQ=57.69;MQ0=0;MQRankSum=-0.138;QD=10.37;ReadPosRankSum=0.482;VQSLOD=5.0142;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,65:153:99:1617,0,2447 3 52852538 52852538 G T exonic ITIH4 nonsynonymous SNV ITIH4:NM_001166449:exon16:c.C2002A:p.P668T,ITIH4:NM_002218:exon18:c.C2092A:p.P698T 0.26 0.2 0.39 0.32 0.3 0.14 0.3187 0.2459 0.5465 0.3641 0.3507 0.3258 0.3125 0.1459 0.25 0.22 0.27 0.17 0.2 rs4687657 COSM4005593;COSM4005592 1(urinary_tract) . . . . . . . . . . . 0.017 0.512 D 0.011 0.156 B 0.009 0.133 B 0.000 0.002 N 1 0.090 P 1.5 0.380 L 4.91 0.015 T -1.6 0.404 N 0.142 0.199 -0.954 0.402 T 0.000 0.000 T . . . 0.653 0.156 8.514 0.742 0.103 0.039 0.092 N c -0.842 -1.000 0.992 0.327 0.615 0.372 0 1.62 0.227 -0.330 0.079 -0.904 0.026 0.000 0.063 0.000 0.016 4.156 0.097 . ENSG00000242142.1|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000243696.4|ENSG00000272573.1|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163939.14|ENSG00000239799.1|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000114904.8|ENSG00000163938.12|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163933.5|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000243696.4|ENSG00000213533.7|ENSG00000163933.5|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000163933.5|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000213533.7|ENSG00000163933.5|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000239799.1|ENSG00000242142.1|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000243696.4|ENSG00000239799.1|ENSG00000163938.12|ENSG00000242142.1|ENSG00000213533.7|ENSG00000163939.14|ENSG00000239799.1|ENSG00000243696.4|ENSG00000168268.6|ENSG00000213533.7|ENSG00000163935.9|ENSG00000239799.1|ENSG00000243696.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2808 0.2082 0.4887 0.3310 0.3017 0.2854 0.2605 0.2819 0.1265 0.2694 0.2119 0.4690 0.3444 0.3145 0.2470 0.2899 0.2797 het 470.67 29 3 52852538 . G T 470.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.858;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.023;QD=16.23;ReadPosRankSum=-0.574;VQSLOD=12.4126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,19:29:99:501,0,208 3 52860936 52860936 C T exonic ITIH4 synonymous SNV ITIH4:NM_001166449:exon4:c.G390A:p.V130V,ITIH4:NM_002218:exon4:c.G390A:p.V130V 0.24 0.2 0.38 0.32 0.26 0.12 0.2476 0.2068 0.4862 0.3099 0.2550 0.2370 0.2544 0.1131 0.23 0.22 0.23 0.17 0.22 rs2276817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2616 0.2101 0.4750 0.3168 0.3117 0.2661 0.2312 0.2560 0.1167 0.2450 0.2056 0.4438 0.33 0.3164 0.2229 0.2521 0.2495 het 1764.84 151 3 52860936 . C T 1764.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.893;DP=151;Dels=0.00;FS=1.294;HRun=0;HaplotypeScore=4.1751;MQ=58.95;MQ0=0;MQRankSum=-0.590;QD=11.69;ReadPosRankSum=0.241;VQSLOD=5.9126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,75:151:99:1795,0,2029 3 52861211 52861211 A T exonic ITIH4 nonsynonymous SNV ITIH4:NM_001166449:exon3:c.T254A:p.I85N,ITIH4:NM_002218:exon3:c.T254A:p.I85N 0.25 0.2 0.38 0.32 0.26 0.12 0.2478 0.2074 0.4863 0.3109 0.2556 0.2371 0.2550 0.1131 0.23 0.22 0.23 0.17 0.2 rs13072536 COSM4002760;COSM4002759 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.09 0.319 T 0.957 0.571 D 0.776 0.635 P 0.122 0.190 N 0.000 0.810 P 1.62 0.416 L 1.94 0.227 T -3.13 0.639 D 0.057 0.114 -0.941 0.426 T 0.000 0.000 T . . . 4.529 0.606 24.3 0.991 0.510 0.820 0.410 D c -0.028 -0.057 1.000 0.446 0.554 0.246 0 3.03 0.339 3.701 0.543 -0.132 0.111 1.000 0.715 0.906 0.385 6.909 0.234 VIT domain ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000243696.4|ENSG00000272573.1|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000163939.14|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000114904.8|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163935.9|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000163933.5|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000243696.4|ENSG00000239799.1|ENSG00000163938.12|ENSG00000242142.1|ENSG00000213533.7|ENSG00000163939.14|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.2616 0.2107 0.4751 0.3169 0.3117 0.2658 0.2311 0.2566 0.1167 0.2449 0.2059 0.4439 0.33 0.3162 0.2227 0.2520 0.2480 het 2213.67 171 3 52861211 . A T 2213.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.305;DP=171;Dels=0.00;FS=9.510;HRun=1;HaplotypeScore=5.7736;MQ=58.76;MQ0=0;MQRankSum=0.014;QD=12.95;ReadPosRankSum=-0.549;VQSLOD=3.7183;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,82:171:99:2244,0,2116 3 52864584 52864584 A G exonic ITIH4 synonymous SNV ITIH4:NM_001166449:exon1:c.T75C:p.T25T,ITIH4:NM_002218:exon1:c.T75C:p.T25T 0.51 0.7 0.56 0.37 0.4 0.46 0.4319 0.6650 0.5925 0.3640 0.3584 0.3913 0.4018 0.4033 0.48 0.65 0.38 0.49 0.33 rs2071042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4335 0.6717 0.5907 0.4340 0.3653 0.3699 0.3877 0.4092 0.3983 0.4683 0.6627 0.5680 0.4470 0.3708 0.3297 0.3970 0.4053 het 3156.25 220 3 52864584 . A G 3156.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.580;DP=220;Dels=0.00;FS=2.339;HRun=1;HaplotypeScore=1.7834;MQ=59.41;MQ0=0;MQRankSum=0.054;QD=14.35;ReadPosRankSum=-0.603;VQSLOD=6.7400;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:108,112:220:99:3186,0,2710 3 52867715 52867715 G C exonic MUSTN1;TMEM110-MUSTN1 nonsynonymous SNV MUSTN1:NM_205853:exon2:c.C60G:p.D20E,TMEM110-MUSTN1:NM_001198974:exon9:c.C930G:p.D310E 0.95 0.83 0.98 1. 1. 1. 0.9874 0.8473 0.9944 1 1 0.9997 0.9910 0.9998 0.95 0.85 1. 0.9 . rs6787916 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.994 0.235 P . . . . . . 2.19 0.033 N 0.138 0.160 -0.957 0.397 T 0.000 0.000 T . . . 2.254 0.332 17.86 0.951 0.257 0.092 0.149 N c -0.908 -0.650 1.000 0.489 0.653 0.482 0 3.41 0.380 0.470 0.216 -0.397 0.063 0.996 0.391 0.995 0.604 7.126 0.245 . . . 0.9896 0.8368 0.9950 0.9997 1 1 0.9999 0.9944 0.9999 0.9557 0.8439 0.9952 1 1 1 0.9997 0.9949 hom 460.37 15 3 52867715 . G C 460.37 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;QD=30.69;VQSLOD=8.0092;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:493,39,0 3 53125922 53125922 T C exonic RFT1 synonymous SNV RFT1:NM_052859:exon13:c.A1623G:p.T541T 0.49 0.17 0.58 0.75 0.6 0.48 0.5510 0.2447 0.6698 0.7419 0.5838 0.5673 0.5940 0.4801 0.46 0.25 0.56 0.4 0.57 rs11242 . . Benign|Benign not_specified|Congenital_disorder_of_glycosylation RCV000082329.5|RCV000353816.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282577:ORPHA137:238049009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5625 0.2407 0.6539 0.6523 0.7351 0.5857 0.5598 0.5928 0.4846 0.4950 0.2440 0.625 0.6291 0.7031 0.5704 0.5860 0.5733 het 1082.18 84 3 53125922 . T C 1082.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.197;DP=84;Dels=0.00;FS=3.006;HRun=0;HaplotypeScore=4.4758;MQ=59.17;MQ0=0;MQRankSum=-0.179;QD=12.88;ReadPosRankSum=-0.877;VQSLOD=5.5631;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,41:84:99:1112,0,1143 3 53220215 53220215 G A exonic PRKCD synonymous SNV PRKCD:NM_212539:exon12:c.G1119A:p.E373E,PRKCD:NM_001316327:exon13:c.G1119A:p.E373E,PRKCD:NM_006254:exon13:c.G1119A:p.E373E 0.28 0.34 0.29 0.22 0.29 0.25 0.2757 0.3307 0.2545 0.2030 0.2891 0.2836 0.2829 0.2566 0.3 0.32 0.28 0.29 0.24 rs2230494 COSM1179808;COSM1179809 1(bone);1(prostate);1(thyroid) Benign not_specified RCV000455584.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2710 0.3288 0.2582 0.2505 0.2048 0.2815 0.2803 0.2798 0.2568 0.2856 0.3232 0.3110 0.2517 0.2108 0.2874 0.2711 0.2802 het 1091.50 96 3 53220215 . G A 1091.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.355;DP=96;Dels=0.00;FS=2.047;HRun=1;HaplotypeScore=3.4362;MQ=59.52;MQ0=0;MQRankSum=-0.727;QD=11.37;ReadPosRankSum=1.761;VQSLOD=5.3425;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,42:96:99:1121,0,1616 3 53222761 53222761 C T exonic PRKCD synonymous SNV PRKCD:NM_212539:exon15:c.C1441T:p.L481L,PRKCD:NM_001316327:exon16:c.C1441T:p.L481L,PRKCD:NM_006254:exon16:c.C1441T:p.L481L 0.71 0.7 0.72 0.76 0.75 0.64 0.7480 0.7282 0.7680 0.7904 0.7409 0.7655 0.7456 0.6567 0.76 0.72 0.78 0.71 0.77 rs2306574 COSM149403 1(stomach) Benign not_specified RCV000455968.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7511 0.7218 0.7642 0.7674 0.7869 0.7424 0.772 0.7578 0.6554 0.7580 0.7198 0.7356 0.7667 0.7833 0.7338 0.7843 0.7556 het 1595.20 145 3 53222761 . C T 1595.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.165;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7880;MQ=58.76;MQ0=0;MQRankSum=-0.669;QD=11.00;ReadPosRankSum=-2.052;VQSLOD=4.7238;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,64:145:99:1625,0,2246 3 53223927 53223927 C G exonic PRKCD synonymous SNV PRKCD:NM_212539:exon17:c.C1782G:p.T594T,PRKCD:NM_001316327:exon18:c.C1782G:p.T594T,PRKCD:NM_006254:exon18:c.C1782G:p.T594T 0.9 0.78 0.97 0.97 1. 0.86 0.9655 0.8071 0.9900 0.9683 1 0.9994 0.9835 0.8945 0.93 0.81 1. 0.89 0.98 rs1075865 . . Benign not_specified RCV000454840.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9701 0.8005 0.9900 0.9985 0.9679 1 0.9993 0.9865 0.8938 0.9428 0.8065 0.9905 0.9967 0.9728 1 0.9993 0.9806 hom 7664.34 250 3 53223927 . C G 7664.34 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4499;MQ=59.04;MQ0=0;QD=30.66;VQSLOD=5.5193;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7662,674,0 3 53224002 53224002 T C exonic PRKCD synonymous SNV PRKCD:NM_212539:exon17:c.T1857C:p.P619P,PRKCD:NM_001316327:exon18:c.T1857C:p.P619P,PRKCD:NM_006254:exon18:c.T1857C:p.P619P 0.94 0.79 0.97 1. 1. 1. 0.9835 0.8206 0.9915 1 1 0.9995 0.9945 0.9997 0.94 0.82 1. 0.94 0.98 rs900495 . . Benign not_specified RCV000455503.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9869 0.8166 0.9911 0.9985 1 1 0.9995 0.9929 0.9997 0.9481 0.8192 0.9905 0.9967 1 1 0.9993 0.9888 hom 8542.01 250 3 53224002 . T C 8542.01 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.2627;MQ=59.00;MQ0=0;QD=34.17;VQSLOD=8.5994;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8541,677,0 3 53321631 53321631 A C exonic DCP1A synonymous SNV DCP1A:NM_001290207:exon8:c.T1239G:p.V413V,DCP1A:NM_001290204:exon9:c.T1602G:p.V534V,DCP1A:NM_001290206:exon9:c.T1353G:p.V451V,DCP1A:NM_018403:exon10:c.T1716G:p.V572V,DCP1A:NM_001290205:exon11:c.T1500G:p.V500V 0.39 0.48 0.35 0.18 0.42 0.5 0.3972 0.4698 0.2789 0.1532 0.4040 0.4170 0.3862 0.4824 0.43 0.46 0.41 0.41 . rs9628 COSM3760172 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3886 0.4759 0.2911 0.3803 0.1528 0.3997 0.4135 0.3978 0.4860 0.4112 0.4837 0.3477 0.4172 0.1409 0.3941 0.4058 0.4096 het 2045.24 170 3 53321631 . A C 2045.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.641;DP=170;Dels=0.00;FS=1.914;HRun=0;HaplotypeScore=4.1290;MQ=58.57;MQ0=0;MQRankSum=-0.609;QD=12.03;ReadPosRankSum=1.367;VQSLOD=5.3151;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,84:170:99:2075,0,2090 3 53326534 53326534 A G exonic DCP1A synonymous SNV DCP1A:NM_001290207:exon5:c.T471C:p.P157P,DCP1A:NM_001290204:exon6:c.T834C:p.P278P,DCP1A:NM_001290206:exon6:c.T585C:p.P195P,DCP1A:NM_018403:exon7:c.T948C:p.P316P,DCP1A:NM_001290205:exon8:c.T732C:p.P244P 0.0072 0.0015 0.0086 . 0.027 0.001 0.0150 0.0038 0.0083 0 0.0262 0.0217 0.0156 0.0023 0.014 0.004 0.019 0.011 . rs34366563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0150 0.0040 0.0081 0.0127 0 0.0257 0.0221 0.0197 0.0023 0.0164 0.0022 0.0036 0.0066 0 0.0224 0.0255 0.0234 het 584.23 66 3 53326534 . A G 584.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.406;DP=66;Dels=0.00;FS=3.535;HRun=3;HaplotypeScore=1.9990;MQ=59.65;MQ0=0;MQRankSum=-1.713;QD=8.85;ReadPosRankSum=1.686;VQSLOD=3.9948;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,24:66:99:614,0,1172 3 53700550 53700550 T C exonic CACNA1D synonymous SNV CACNA1D:NM_000720:exon7:c.T1104C:p.D368D,CACNA1D:NM_001128839:exon7:c.T1104C:p.D368D,CACNA1D:NM_001128840:exon7:c.T1104C:p.D368D 0.71 0.93 0.61 0.65 0.53 0.71 0.5945 0.8833 0.6073 0.6232 0.6072 0.5251 0.5771 0.6648 0.65 0.87 0.53 0.78 0.35 rs2250736 . . Benign not_specified RCV000222719.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5884 0.8915 0.5978 0.4853 0.6179 0.6012 0.5276 0.5559 0.6603 0.6466 0.8772 0.6026 0.4967 0.6200 0.5856 0.5390 0.5833 het 2647.81 202 3 53700550 . T C 2647.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.466;DP=202;DS;Dels=0.00;FS=1.188;HRun=0;HaplotypeScore=5.0931;MQ=58.87;MQ0=0;MQRankSum=-1.051;QD=13.11;ReadPosRankSum=0.477;VQSLOD=5.1539;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,108:202:99:2678,0,2684 3 53856653 53856653 C T exonic CHDH synonymous SNV CHDH:NM_018397:exon4:c.G720A:p.A240A 0.44 0.16 0.44 0.57 0.53 0.61 0.5053 0.2158 0.4622 0.5655 0.4929 0.5306 0.4967 0.5890 0.44 0.22 0.55 0.28 0.63 rs2241808 COSM4158237 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5085 0.2137 0.4637 0.4758 0.5744 0.4864 0.5371 0.5094 0.5880 0.4432 0.2193 0.4773 0.4503 0.5880 0.4865 0.5402 0.5340 het 1209.15 86 3 53856653 . C T 1209.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.605;DP=86;Dels=0.00;FS=2.434;HRun=0;HaplotypeScore=1.6644;MQ=59.30;MQ0=0;MQRankSum=-0.890;QD=14.06;ReadPosRankSum=0.838;VQSLOD=5.6274;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,43:86:99:1239,0,1074 3 53883722 53883722 C G exonic IL17RB synonymous SNV IL17RB:NM_018725:exon3:c.C126G:p.P42P 0.43 0.08 0.46 0.47 0.63 0.63 0.5649 0.1607 0.4845 0.4826 0.6006 0.6352 0.5815 0.6205 0.48 0.18 0.63 0.3 0.63 rs1025689 COSM4002767 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5646 0.1496 0.4839 0.5882 0.4791 0.5971 0.6348 0.5701 0.6190 0.4886 0.1662 0.5060 0.5733 0.4596 0.6062 0.6401 0.6384 hom 6996.08 242 3 53883722 . C G 6996.08 Mask AC=2;AF=1.00;AN=2;DP=242;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.8990;MQ=58.82;MQ0=0;QD=28.91;VQSLOD=7.4568;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:6994,569,0 3 53886912 53886912 C T exonic IL17RB synonymous SNV IL17RB:NM_018725:exon5:c.C369T:p.Y123Y 0.43 0.43 0.32 0.59 0.34 0.43 0.3667 0.4021 0.3322 0.6247 0.3140 0.3293 0.3300 0.4077 0.35 0.4 0.33 0.37 0.37 rs3733075 COSM3760176 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3636 0.3989 0.3394 0.3048 0.6127 0.3082 0.3321 0.3490 0.4090 0.3644 0.3952 0.3556 0.3113 0.6174 0.3076 0.3335 0.3717 het 873.94 77 3 53886912 . C T 873.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.852;DP=77;Dels=0.00;FS=0.944;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=0.118;QD=11.35;ReadPosRankSum=0.149;VQSLOD=6.6819;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,34:77:99:904,0,1264 3 53905308 53905308 T C exonic ACTR8 synonymous SNV ACTR8:NM_022899:exon11:c.A1518G:p.G506G 0.69 0.72 0.62 0.94 0.45 0.7 0.5546 0.6838 0.7281 0.9464 0.4214 0.4390 0.5187 0.6686 0.52 0.68 0.44 0.65 0.52 rs1046677 COSM3760177;COSM3760178 1(bone);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5557 0.6796 0.7128 0.4406 0.9403 0.4148 0.4413 0.5206 0.6672 0.5379 0.6701 0.7069 0.4437 0.9581 0.4216 0.4368 0.5112 het 2435.74 212 3 53905308 . T C 2435.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.271;DP=212;Dels=0.00;FS=1.743;HRun=2;HaplotypeScore=9.4775;MQ=59.01;MQ0=0;MQRankSum=1.043;QD=11.49;ReadPosRankSum=0.586;VQSLOD=4.4979;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,93:212:99:2466,0,3209 3 53906513 53906513 G A exonic ACTR8 synonymous SNV ACTR8:NM_022899:exon10:c.C1200T:p.I400I 0.69 0.71 0.62 0.94 0.45 0.7 0.5540 0.6769 0.7274 0.9464 0.4211 0.4390 0.5187 0.6693 0.52 0.67 0.44 0.65 0.49 rs4687757 COSM3760180;COSM3760179 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5524 0.6718 0.7114 0.4397 0.9406 0.4140 0.4401 0.5188 0.6650 0.5361 0.6651 0.7043 0.4437 0.9592 0.4218 0.4361 0.5122 het 2330.17 212 3 53906513 . G A 2330.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.555;DP=212;DS;Dels=0.00;FS=9.742;HRun=1;HaplotypeScore=10.9586;MQ=59.48;MQ0=0;MQRankSum=-0.392;QD=10.99;ReadPosRankSum=0.462;VQSLOD=3.0812;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,88:212:99:2360,0,3566 3 54354510 54354510 T C exonic CACNA2D3 synonymous SNV CACNA2D3:NM_018398:exon3:c.T246C:p.I82I 0.65 0.63 0.61 0.6 0.73 0.68 0.7252 0.6830 0.6692 0.6563 0.7109 0.7638 0.7268 0.6738 0.72 0.67 0.74 0.73 . rs9879885 COSM446878 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6824 0.6453 0.6007 0.7182 0.5438 0.6708 0.7392 0.7093 0.6718 0.6888 0.6539 0.6172 0.7167 0.5432 0.6754 0.7313 0.6898 het 170.11 23 3 54354510 . T C 170.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.678;DP=23;Dels=0.00;FS=1.760;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.807;QD=7.40;ReadPosRankSum=1.452;VQSLOD=5.3720;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,8:23:99:200,0,386 3 54925426 54925426 C T exonic CACNA2D3 nonsynonymous SNV CACNA2D3:NM_018398:exon25:c.C2195T:p.T732M 0.0038 0.0015 0.0014 . 0.016 . 0.0076 0.0025 0.0022 0 0.0207 0.0103 0.0067 0.0025 0.0083 0.0021 0.011 . . rs112362995 . . . . . . . . . . . . . 0.001 0.784 D 0.998 0.715 D 0.899 0.620 P 0.000 0.843 D 1.000 0.588 D 1.79 0.469 L 1.58 0.291 T -2.58 0.584 D 0.332 0.456 -0.957 0.398 T 0.114 0.405 T . . . 7.131 0.943 34 0.999 0.993 0.615 0.312 D c 0.711 0.722 1.0 0.983 0.554 0.283 0 5.54 0.828 7.568 0.814 0.935 0.490 1.000 0.715 0.943 0.417 17.659 0.880 . . . 0.0078 0.0024 0.0022 0.0018 5.8e-05 0.0214 0.0105 0.0082 0.0026 0.0093 0.0019 0.0024 0 0 0.0286 0.0104 0.0122 het 749.64 77 3 54925426 . C T 749.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.463;DP=77;Dels=0.00;FS=3.017;HRun=0;HaplotypeScore=2.8291;MQ=59.21;MQ0=0;MQRankSum=1.184;QD=9.74;ReadPosRankSum=1.373;VQSLOD=5.1838;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,33:77:99:780,0,1062 3 56627598 56627598 A G exonic CCDC66 nonsynonymous SNV CCDC66:NM_001012506:exon9:c.A1046G:p.Q349R,CCDC66:NM_001141947:exon9:c.A1148G:p.Q383R 0.96 0.86 0.98 1. 1. 1. 0.9873 0.8664 0.9927 1 1 0.9991 0.9945 0.9996 0.95 0.87 1. 0.9 1. rs1491170 . . . . . . . . . . . . . 0.73 0.038 T 0.0 0.026 B 0.0 0.013 B 0.450 0.048 N 1 0.090 P -0.205 0.041 N 1.97 0.221 T 0.33 0.039 N 0.011 0.150 -1.042 0.166 T 0.000 0.000 T . . . -3.578 0.000 0.001 0.175 0.005 0.012 0.042 N c -2.102 -2.128 0.942 0.275 0.563 0.310 0 -7.35 0.013 -0.348 0.077 -1.980 0.005 0.001 0.137 0.003 0.074 11.374 0.488 . . . 0.9896 0.8617 0.9915 0.9984 1 1 0.9992 0.9927 0.9995 0.9597 0.8594 0.9857 1 1 1 0.9997 0.9939 hom 3230.05 111 3 56627598 . A G 3230.05 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.29;MQ0=0;QD=29.10;VQSLOD=8.1546;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3264,265,0 3 56650012 56650012 G C exonic CCDC66 nonsynonymous SNV CCDC66:NM_001012506:exon13:c.G1672C:p.E558Q,CCDC66:NM_001141947:exon13:c.G1774C:p.E592Q 0.31 0.41 0.18 0.38 0.12 0.39 0.2006 0.3878 0.2348 0.3422 0.1219 0.1161 0.1998 0.3580 0.21 0.39 0.12 0.35 0.082 rs4681904 COSM3760184;COSM3760182;COSM3760183 2(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.219 0.194 T 0.496 0.352 P 0.178 0.341 B 0.054 0.228 N 1 0.090 P 1.59 0.404 L 1.86 0.243 T -1.29 0.324 N 0.075 0.570 -0.902 0.478 T 0.000 0.000 T . . . 2.220 0.328 17.64 0.955 0.264 0.627 0.316 D c -0.230 -0.208 0.035 0.142 0.651 0.465 0 3.71 0.416 2.495 0.448 0.998 0.613 0.851 0.302 0.604 0.289 9.707 0.392 . ENSG00000180376.12 Whole_Blood 0.1947 0.3930 0.2284 0.1613 0.3422 0.1196 0.1126 0.1732 0.3508 0.2020 0.3884 0.2127 0.1887 0.3302 0.1283 0.1001 0.1544 hom 3169.43 94 3 56650012 . G C 3169.43 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.27;MQ0=0;QD=33.72;VQSLOD=7.8338;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3202,259,0 3 56650054 56650054 - CTC exonic CCDC66 nonframeshift insertion CCDC66:NM_001012506:exon13:c.1714_1715insCTC:p.S572_K573insP,CCDC66:NM_001141947:exon13:c.1816_1817insCTC:p.S606_K607insP . . . . . . 0.2069 0.3802 0.2348 0.3416 0.1258 0.1163 0.2037 0.4069 0.38 0.46 0.34 0.054 . rs56302802 COSM1485402;COSM1485401;COSM4603456 12(upper_aerodigestive_tract);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1978 0.3842 0.2244 0.1610 0.3391 0.1232 0.1123 0.1754 0.3980 0.2010 0.3801 0.2098 0.1887 0.3298 0.1313 0.1017 0.1653 hom 8172.54 126 3 56650054 . T TCTC 8172.54 Mask AC=2;AF=1.00;AN=2;DP=126;FS=0.000;HRun=0;HaplotypeScore=508.8263;MQ=54.25;MQ0=0;QD=64.86;set=variant2 GT:AD:DP:GQ:PL 1/1:8,114:126:99:8173,361,0 3 56658871 56658871 T C exonic FAM208A nonsynonymous SNV FAM208A:NM_015224:exon15:c.A2992G:p.I998V,FAM208A:NM_001112736:exon22:c.A4303G:p.I1435V 0.29 0.33 0.17 0.38 0.11 0.44 0.1904 0.3214 0.2255 0.3407 0.1181 0.1014 0.1929 0.3931 0.18 0.32 0.1 0.28 0.09 rs2291498 COSM4002780;COSM4002781 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.666 0.074 T 0.003 0.154 B 0.009 0.179 B 0.001 0.422 N 0.999 0.221 P -0.895 0.014 N 0.86 0.468 T 0.15 0.066 N 0.049 0.072 -0.950 0.410 T 0.000 0.000 T . . . 0.367 0.129 6.324 0.709 0.092 0.581 0.303 D c -0.534 -0.375 0.999 0.377 0.707 0.730 0 1.82 0.241 -0.138 0.103 0.964 0.580 0.651 0.279 1.000 0.888 5.646 0.167 . ENSG00000180376.12|ENSG00000180376.12|ENSG00000180376.12 Cells_EBV-transformed_lymphocytes|Heart_Left_Ventricle|Whole_Blood 0.1867 0.3279 0.2187 0.1464 0.3408 0.1152 0.0975 0.1608 0.3875 0.1736 0.3202 0.1938 0.1722 0.3294 0.1240 0.0838 0.1487 hom 1988.45 69 3 56658871 . T C 1988.45 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=28.82;VQSLOD=8.6781;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2021,159,0 3 56667682 56667682 G C exonic FAM208A nonsynonymous SNV FAM208A:NM_015224:exon11:c.C1826G:p.T609R,FAM208A:NM_001112736:exon18:c.C3137G:p.T1046R 0.78 0.93 0.71 0.95 0.46 0.8 0.6031 0.8538 0.7899 0.9620 0.4858 0.4588 0.5907 0.7569 0.59 0.85 0.46 0.8 0.48 rs9835332 . . . . . . . Height . .03 20881960 rs9835332 5E-13 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.209 0.164 N 1 0.090 P -0.895 0.014 N 2.82 0.109 T 0.54 0.028 N 0.047 0.028 -1.033 0.193 T 0.000 0.000 T . . . -1.053 0.030 0.012 0.208 0.008 0.039 0.092 N c -1.429 -1.289 0.011 0.121 0.707 0.730 0 0.788 0.177 -0.343 0.078 -1.043 0.020 0.115 0.229 0.902 0.382 7.797 0.281 . ENSG00000180376.12|ENSG00000163946.9|ENSG00000180376.12|ENSG00000180376.12|ENSG00000180376.12|ENSG00000180376.12|ENSG00000163946.9|ENSG00000180376.12|ENSG00000180376.12|ENSG00000180376.12|ENSG00000180376.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Nerve_Tibial|Thyroid 0.6044 0.8574 0.7762 0.4381 0.9640 0.4882 0.4614 0.5639 0.7527 0.6029 0.8460 0.7363 0.4669 0.9753 0.4894 0.4460 0.5532 hom 4675.38 145 3 56667682 . G C 4675.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.039;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;MQRankSum=1.708;QD=32.24;ReadPosRankSum=1.230;VQSLOD=8.8031;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,144:145:99:4653,342,0 3 56763316 56763316 G A exonic ARHGEF3 synonymous SNV ARHGEF3:NM_001128616:exon10:c.C1581T:p.H527H,ARHGEF3:NM_019555:exon10:c.C1563T:p.H521H,ARHGEF3:NM_001289698:exon11:c.C1581T:p.H527H,ARHGEF3:NM_001128615:exon13:c.C1659T:p.H553H 0.73 0.88 0.66 0.85 0.42 0.77 0.5597 0.8261 0.7540 0.8394 0.4597 0.4177 0.5402 0.7242 0.56 0.82 0.42 0.7 0.46 rs1565376 COSM3760186;COSM3760188;COSM3760187;COSM3760185 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5617 0.8338 0.7432 0.4103 0.8442 0.4628 0.4196 0.5066 0.7105 0.5722 0.8205 0.7022 0.4570 0.8610 0.4605 0.4230 0.4928 hom 3616.44 111 3 56763316 . G A 3616.44 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=58.98;MQ0=0;QD=32.58;VQSLOD=9.0899;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3616,289,0 3 56763328 56763328 T C exonic ARHGEF3 synonymous SNV ARHGEF3:NM_001128616:exon10:c.A1569G:p.G523G,ARHGEF3:NM_019555:exon10:c.A1551G:p.G517G,ARHGEF3:NM_001289698:exon11:c.A1569G:p.G523G,ARHGEF3:NM_001128615:exon13:c.A1647G:p.G549G 0.73 0.87 0.66 0.85 0.42 0.77 0.5584 0.8189 0.7539 0.8402 0.4603 0.4173 0.5376 0.7193 0.55 0.81 0.42 0.69 0.47 rs1565377 COSM3760189;COSM3760192;COSM3760190;COSM3760191 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5615 0.8276 0.7429 0.4105 0.8447 0.4638 0.4201 0.5073 0.7109 0.5709 0.8156 0.7002 0.4570 0.8614 0.4602 0.4231 0.4959 hom 4344.43 135 3 56763328 . T C 4344.43 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9867;MQ=59.16;MQ0=0;QD=32.18;VQSLOD=9.6952;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4344,337,0 3 56763525 56763525 A G exonic ARHGEF3 synonymous SNV ARHGEF3:NM_001128616:exon10:c.T1372C:p.L458L,ARHGEF3:NM_019555:exon10:c.T1354C:p.L452L,ARHGEF3:NM_001289698:exon11:c.T1372C:p.L458L,ARHGEF3:NM_001128615:exon13:c.T1450C:p.L484L 0.27 0.25 0.11 0.34 0.17 0.43 0.2030 0.2434 0.0929 0.3262 0.1940 0.1526 0.2280 0.3962 0.18 0.25 0.15 0.23 0.13 rs1009118 COSM3760196;COSM3760195;COSM3760194;COSM3760193 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1977 0.2485 0.1017 0.1877 0.3210 0.1924 0.1501 0.1890 0.3894 0.1875 0.2456 0.1110 0.2133 0.2937 0.1855 0.1469 0.1810 hom 5076.74 156 3 56763525 . A G 5076.74 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4290;MQ=58.94;MQ0=0;QD=32.54;VQSLOD=5.1683;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:5076,397,0 3 56763619 56763619 A G exonic ARHGEF3 synonymous SNV ARHGEF3:NM_001128616:exon10:c.T1278C:p.N426N,ARHGEF3:NM_019555:exon10:c.T1260C:p.N420N,ARHGEF3:NM_001289698:exon11:c.T1278C:p.N426N,ARHGEF3:NM_001128615:exon13:c.T1356C:p.N452N 0.27 0.25 0.11 0.34 0.17 0.43 0.2043 0.2463 0.0932 0.3265 0.1942 0.1535 0.2341 0.4088 0.18 0.25 0.15 0.23 0.13 rs6765444 COSM3760197;COSM3760198;COSM3760200;COSM3760199 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1963 0.2479 0.1009 0.1848 0.3199 0.1920 0.1488 0.1868 0.3856 0.1874 0.2458 0.1110 0.2119 0.2928 0.1855 0.1468 0.1806 hom 3665.33 122 3 56763619 . A G 3665.33 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8490;MQ=59.01;MQ0=0;QD=30.04;VQSLOD=9.0577;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3665,289,0 3 56766435 56766435 C G exonic ARHGEF3 synonymous SNV ARHGEF3:NM_001128616:exon9:c.G1077C:p.L359L,ARHGEF3:NM_019555:exon9:c.G1059C:p.L353L,ARHGEF3:NM_001289698:exon10:c.G1077C:p.L359L,ARHGEF3:NM_001128615:exon12:c.G1155C:p.L385L 0.26 0.24 0.1 0.34 0.14 0.42 0.1822 0.2306 0.0827 0.3282 0.1724 0.1231 0.2093 0.3864 0.15 0.23 0.12 0.21 0.11 rs3732511 COSM4002787;COSM4002786;COSM4002785;COSM4002784 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1764 0.2346 0.0917 0.1808 0.3235 0.1709 0.1164 0.1671 0.3792 0.1648 0.2270 0.1002 0.1887 0.2968 0.1701 0.1165 0.1640 hom 4976.91 151 3 56766435 . C G 4976.91 Mask AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.99;MQ0=0;QD=32.96;VQSLOD=9.2660;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:151:99:4976,394,0 3 56835761 56835761 G A exonic ARHGEF3 synonymous SNV ARHGEF3:NM_019555:exon1:c.C66T:p.P22P 0.32 0.023 0.49 0.19 0.57 0.48 0.5078 0.1274 0.5994 0.2993 0.7134 0.5824 0.4964 0.4986 0.39 0.11 0.54 0.2 0.26 rs3732508 COSM446908;COSM1485411 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4845 0.0901 0.5176 0.4274 0.1804 0.7077 0.5417 0.4775 0.4807 0.4423 0.1094 0.5119 0.4633 0.2025 0.7255 0.5829 0.5787 hom 330.11 11 3 56835761 . G A 330.11 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;QD=30.01;VQSLOD=8.2140;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:363,30,0 3 57132200 57132200 A G exonic IL17RD synonymous SNV IL17RD:NM_017563:exon12:c.T1531C:p.L511L,IL17RD:NM_001318864:exon13:c.T1099C:p.L367L 0.74 0.61 0.85 0.51 0.86 0.92 0.8239 0.6427 0.8456 0.4976 0.8973 0.8574 0.8579 0.9265 0.79 0.66 0.86 0.67 . rs2291462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8280 0.6384 0.8469 0.8231 0.4947 0.8976 0.8580 0.8454 0.9270 0.7820 0.6457 0.8377 0.8841 0.4777 0.8980 0.8579 0.8405 hom 1962.39 60 3 57132200 . A G 1962.39 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.62;MQ0=0;QD=32.71;VQSLOD=9.5673;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1995,156,0 3 57138419 57138419 G A exonic IL17RD nonsynonymous SNV IL17RD:NM_017563:exon8:c.C764T:p.T255M,IL17RD:NM_001318864:exon9:c.C332T:p.T111M 0.53 0.57 0.52 0.14 0.71 0.69 0.6490 0.5927 0.5049 0.1452 0.7429 0.7091 0.6593 0.7308 0.67 0.58 0.71 0.51 . rs6780995 COSM5021407;COSM5021406;COSM5021408 1(bone) . . . . . . . . . . . 0.094 0.313 T 0.943 0.511 P 0.302 0.394 B 0.088 0.205 N 0.790 0.292 P 1.245 0.315 L 2.89 0.102 T -0.17 0.102 N 0.073 0.104 -1.079 0.075 T 0.000 0.000 T . . . 2.678 0.383 20.7 0.959 0.275 0.568 0.300 D c -0.298 -0.249 1.000 0.407 0.707 0.730 0 -0.521 0.113 0.888 0.277 0.128 0.215 0.994 0.380 0.999 0.750 10.944 0.463 Interleukin 17 receptor D\x2c N-terminal . . 0.6212 0.5731 0.4747 0.6556 0.1233 0.7368 0.6954 0.6464 0.7183 0.6306 0.5815 0.5180 0.6921 0.1156 0.7376 0.6926 0.6633 hom 362.40 13 3 57138419 . G A 362.40 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.88;VQSLOD=13.6621;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:30.10:395,30,0 3 57139972 57139972 A G exonic IL17RD synonymous SNV IL17RD:NM_017563:exon7:c.T660C:p.H220H,IL17RD:NM_001318864:exon8:c.T228C:p.H76H 0.79 0.75 0.89 0.52 0.9 0.96 0.8697 0.7721 0.9091 0.5061 0.9332 0.8956 0.8943 0.9606 0.86 0.78 0.9 0.8 . rs1545981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8718 0.7672 0.9065 0.8516 0.5014 0.9353 0.8966 0.8872 0.9607 0.8421 0.7636 0.8926 0.8974 0.4838 0.9342 0.8975 0.8929 hom 1898.75 64 3 57139972 . A G 1898.75 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.13;MQ0=0;QD=29.67;VQSLOD=8.5621;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1932,162,0 3 57303684 57303684 A G exonic APPL1 nonsynonymous SNV APPL1:NM_012096:exon22:c.A2099G:p.E700G 0.073 0.0068 0.13 0.004 0.16 0.1 0.1298 0.0337 0.0985 0.0008 0.1825 0.1643 0.1421 0.1181 0.13 0.043 0.17 0.033 0.16 rs11544593 COSM5002815 1(pancreas) . . . . . . . . . . . 0.007 0.599 D 0.455 0.344 P 0.111 0.300 B 0.000 0.629 D 0.000 0.810 P 2.045 0.562 M 2.69 0.123 T -1.55 0.375 N 0.174 0.211 -0.973 0.365 T 0.000 0.000 T . . . 3.919 0.528 23.5 0.959 0.274 0.990 0.891 D c 0.250 0.413 0.999 0.378 0.706 0.609 0 5.65 0.868 8.655 0.908 0.244 0.267 1.000 0.715 1.000 0.888 16.161 0.814 . ENSG00000239388.4|ENSG00000239388.4|ENSG00000239388.4 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Colon_Sigmoid 0.1300 0.0300 0.1018 0.0409 0.0008 0.1780 0.1745 0.1304 0.1154 0.1229 0.0335 0.1158 0.0265 0.0025 0.1966 0.1715 0.1477 hom 4697.97 146 3 57303684 . A G 4697.97 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9283;MQ=57.59;MQ0=0;QD=32.18;VQSLOD=7.7817;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4697,370,0 3 57528503 57528503 A G exonic DNAH12 nonsynonymous SNV DNAH12:NM_198564:exon2:c.T95C:p.V32A 0.22 0.55 0.17 0.003 0.15 0.093 0.1623 0.4965 0.1220 0.0007 0.1924 0.1505 0.1567 0.1006 0.27 0.49 0.15 0.25 0.17 rs9311651 . . . . . . . . . . . . . 0.822 0.034 T 0.0 0.026 B 0.002 0.063 B 0.107 0.196 N 1 0.090 P 1.7 0.440 L 2.09 0.201 T 0.65 0.042 N 0.075 0.083 -0.911 0.468 T 0.000 0.000 T . . . -0.831 0.039 0.036 0.321 0.018 0.018 0.056 N c -1.082 -1.096 0.001 0.081 0.554 0.246 0 -2.94 0.052 0.062 0.142 0.220 0.255 0.002 0.151 0.662 0.301 3.962 0.088 . ENSG00000168374.6|ENSG00000168374.6|ENSG00000168374.6 Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse 0.1511 0.4947 0.1205 0.0700 0.0006 0.1821 0.1534 0.1451 0.0945 0.2447 0.4716 0.1447 0.0762 0.0019 0.2039 0.1626 0.1721 het 1235.44 122 3 57528503 . A G 1235.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.824;DP=122;Dels=0.00;FS=4.478;HRun=0;HaplotypeScore=2.9932;MQ=58.05;MQ0=0;MQRankSum=0.023;QD=10.13;ReadPosRankSum=-1.080;VQSLOD=4.8394;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,50:122:99:1265,0,2040 3 57542173 57542173 C T exonic PDE12 nonsynonymous SNV PDE12:NM_001322176:exon1:c.C67T:p.R23W,PDE12:NM_001322177:exon1:c.C67T:p.R23W,PDE12:NM_177966:exon1:c.C67T:p.R23W 0.39 0.14 0.45 0.43 0.47 0.54 0.4723 0.2135 0.4521 0.4697 0.5152 0.4824 0.4940 0.5658 0.35 0.18 0.44 0.34 0.34 rs2241988 COSM4158255 1(thyroid) . . . . . . . . . . . 0.059 0.531 T 0.946 0.600 P 0.249 0.436 B 0.020 0.271 N 0.991 0.241 P 1.245 0.315 L 1.73 0.264 T -0.7 0.208 N 0.088 0.084 -0.889 0.490 T 0.000 0.000 T . . . 3.586 0.488 23.2 0.993 0.585 0.872 0.464 D c 0.216 0.224 1.0 0.983 0.442 0.072 0 3.66 0.409 4.548 0.602 0.935 0.490 1.000 0.715 0.313 0.239 10.908 0.461 . ENSG00000168374.6|ENSG00000174844.10 Cells_Transformed_fibroblasts|Thyroid 0.4555 0.1801 0.4428 0.5749 0.4451 0.4883 0.4516 0.4829 0.5553 0.3806 0.1921 0.4189 0.5828 0.4260 0.4768 0.4517 0.4571 het 866.71 62 3 57542173 . C T 866.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9279;MQ=60.00;MQ0=0;MQRankSum=-0.141;QD=13.98;ReadPosRankSum=-0.296;VQSLOD=5.4255;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,31:62:99:897,0,903 3 58081888 58081888 T C exonic FLNB synonymous SNV FLNB:NM_001164317:exon6:c.T927C:p.S309S,FLNB:NM_001164318:exon6:c.T927C:p.S309S,FLNB:NM_001164319:exon6:c.T927C:p.S309S,FLNB:NM_001457:exon6:c.T927C:p.S309S 0.64 0.58 0.58 0.98 0.37 0.7 0.4647 0.5387 0.6978 0.9761 0.3698 0.3246 0.4426 0.5923 0.4 0.53 0.32 0.63 0.35 rs1522384 COSM5019479;COSM5019480;COSM5019478 1(haematopoietic_and_lymphoid_tissue);11(soft_tissue) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000248165.2|RCV000367630.1 MedGen|MedGen CN169374|CN239400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4668 0.5348 0.6716 0.2875 0.9753 0.3594 0.3254 0.4124 0.5815 0.4389 0.5321 0.6313 0.2267 0.9704 0.3560 0.3418 0.4114 het 1448.13 124 3 58081888 . T C 1448.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.085;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.53;MQ0=0;MQRankSum=0.605;QD=11.68;ReadPosRankSum=-0.290;VQSLOD=6.7666;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,61:124:99:1478,0,1518 3 58109162 58109162 G A exonic FLNB nonsynonymous SNV FLNB:NM_001164317:exon21:c.G3469A:p.D1157N,FLNB:NM_001164318:exon21:c.G3469A:p.D1157N,FLNB:NM_001164319:exon21:c.G3469A:p.D1157N,FLNB:NM_001457:exon21:c.G3469A:p.D1157N 0.55 0.48 0.47 0.92 0.28 0.58 0.3732 0.4263 0.5549 0.9129 0.2632 0.2470 0.3108 0.4855 0.3 0.41 0.24 0.55 0.3 rs1131356 COSM4158258;COSM4158257;COSM4158256 9(soft_tissue);1(thyroid) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000250004.3|RCV000333788.1 MedGen|MedGen CN169374|CN239400 . . . . . . 0.056 0.381 T 1.0 0.899 D 0.985 0.916 D 0.000 0.843 D 0.000 0.588 P 2.335 0.672 M -1.96 0.851 D -4.08 0.747 D 0.056 0.075 -0.962 0.388 T 0.000 0.000 T . . . 5.518 0.750 26.3 0.998 0.894 0.991 0.915 D c 0.622 0.554 1.000 0.747 0.719 0.830 0 5.08 0.682 10.003 0.997 1.048 0.713 1.000 0.715 0.566 0.282 15.223 0.729 Immunoglobulin E-set|Immunoglobulin-like fold ENSG00000136068.10|ENSG00000244161.1 Thyroid|Thyroid 0.3749 0.4195 0.5392 0.2397 0.9146 0.2577 0.2463 0.3223 0.4730 0.3399 0.4168 0.5155 0.1954 0.9127 0.2523 0.2494 0.2967 het 1894.55 154 3 58109162 . G A 1894.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.167;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4909;MQ=58.86;MQ0=0;MQRankSum=0.031;QD=12.30;ReadPosRankSum=-0.689;VQSLOD=6.2726;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,73:154:99:1925,0,1996 3 58112440 58112440 A G exonic FLNB synonymous SNV FLNB:NM_001164317:exon24:c.A4173G:p.A1391A,FLNB:NM_001164318:exon24:c.A4173G:p.A1391A,FLNB:NM_001164319:exon24:c.A4173G:p.A1391A,FLNB:NM_001457:exon24:c.A4173G:p.A1391A 0.83 0.94 0.76 1. 0.62 0.79 0.7079 0.9053 0.7887 0.9990 0.5891 0.6247 0.6795 0.7596 0.73 0.89 0.64 0.88 0.66 rs2362903 COSM4158260;COSM4158259;COSM4158261 1(breast);1(thyroid) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000242336.2|RCV000296871.1 MedGen|MedGen CN169374|CN239400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7049 0.9055 0.7739 0.6620 0.9990 0.5884 0.6251 0.6920 0.7548 0.7197 0.8905 0.7572 0.6556 0.9988 0.5849 0.6246 0.6609 hom 4274.92 142 3 58112440 . A G 4274.92 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.16;MQ0=0;QD=30.11;VQSLOD=9.0120;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:142:99:4274,334,0 3 58112488 58112488 C T exonic FLNB synonymous SNV FLNB:NM_001164317:exon24:c.C4221T:p.P1407P,FLNB:NM_001164318:exon24:c.C4221T:p.P1407P,FLNB:NM_001164319:exon24:c.C4221T:p.P1407P,FLNB:NM_001457:exon24:c.C4221T:p.P1407P 0.65 0.79 0.49 0.97 0.28 0.62 0.4091 0.7248 0.5732 0.9741 0.2670 0.2482 0.3400 0.5074 0.4 0.71 0.25 0.65 0.16 rs2362904 COSM4158263;COSM4158264;COSM4158262 9(soft_tissue);1(thyroid) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000247133.2|RCV000277932.1 MedGen|MedGen CN169374|CN239400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4046 0.7254 0.5556 0.2451 0.9749 0.2614 0.2474 0.3417 0.4949 0.4270 0.7079 0.5322 0.2020 0.9696 0.2582 0.2507 0.3157 het 958.87 75 3 58112488 . C T 958.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.394;DP=75;Dels=0.00;FS=3.042;HRun=0;HaplotypeScore=2.9487;MQ=60.00;MQ0=0;MQRankSum=0.370;QD=12.78;ReadPosRankSum=1.142;VQSLOD=5.9686;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,34:75:99:989,0,1037 3 58118555 58118555 G A exonic FLNB nonsynonymous SNV FLNB:NM_001164318:exon26:c.G4411A:p.V1471M,FLNB:NM_001164319:exon26:c.G4411A:p.V1471M,FLNB:NM_001457:exon26:c.G4411A:p.V1471M,FLNB:NM_001164317:exon27:c.G4504A:p.V1502M 0.61 0.64 0.48 0.97 0.28 0.61 0.3952 0.5964 0.5631 0.9736 0.2672 0.2469 0.3289 0.5016 0.36 0.58 0.25 0.6 0.29 rs12632456 COSM4158266;COSM4158265;COSM4158267 1(breast);10(soft_tissue);1(pancreas);1(thyroid) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000247641.2|RCV000271883.1 MedGen|MedGen CN169374|CN239400 . . . . . . 0.057 0.384 T 0.877 0.462 P 0.37 0.434 B 0.001 0.429 D 0.051 0.407 P 2.085 0.579 M -2.37 0.882 D -2.21 0.501 N 0.087 0.160 -0.985 0.338 T 0.000 0.000 T . . . 5.643 0.769 26.6 0.998 0.925 0.933 0.575 D c 0.097 0.091 0.973 0.294 0.707 0.730 0 2.75 0.313 3.035 0.492 0.135 0.219 1.000 0.715 0.218 0.221 5.588 0.165 Immunoglobulin E-set|Immunoglobulin-like fold ENSG00000136068.10|ENSG00000244161.1 Thyroid|Thyroid 0.3939 0.5951 0.5472 0.2441 0.9747 0.2613 0.2465 0.3341 0.4904 0.3936 0.5909 0.5227 0.2020 0.9691 0.2582 0.2504 0.3106 het 1356.01 115 3 58118555 . G A 1356.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.834;DP=115;Dels=0.00;FS=1.508;HRun=0;HaplotypeScore=3.4530;MQ=59.47;MQ0=0;MQRankSum=0.070;QD=11.79;ReadPosRankSum=0.994;VQSLOD=6.3412;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,55:115:99:1386,0,1477 3 58154177 58154177 G A exonic FLNB synonymous SNV FLNB:NM_001164319:exon43:c.G7137A:p.S2379S,FLNB:NM_001164318:exon44:c.G7176A:p.S2392S,FLNB:NM_001457:exon44:c.G7209A:p.S2403S,FLNB:NM_001164317:exon45:c.G7302A:p.S2434S 0.059 0.055 0.11 0.002 0.095 0.052 0.0898 0.0622 0.0966 0.0009 0.1513 0.1040 0.1045 0.0662 0.095 0.065 0.11 0.065 0.082 rs13079906 COSM5019180;COSM5019179 10(soft_tissue) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000254214.2|RCV000292846.1 MedGen|MedGen CN169374|CN239400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0896 0.0598 0.0900 0.0657 0.0005 0.1454 0.1049 0.0921 0.0653 0.0945 0.0601 0.0873 0.0662 0 0.1491 0.1111 0.1235 het 666.90 79 3 58154177 . G A 666.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.171;DP=79;Dels=0.00;FS=3.613;HRun=0;HaplotypeScore=1.5983;MQ=58.33;MQ0=0;MQRankSum=0.822;QD=8.44;ReadPosRankSum=0.894;VQSLOD=4.9482;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,27:79:99:697,0,1299 3 58154327 58154327 C T exonic FLNB synonymous SNV FLNB:NM_001164319:exon43:c.C7287T:p.S2429S,FLNB:NM_001164318:exon44:c.C7326T:p.S2442S,FLNB:NM_001457:exon44:c.C7359T:p.S2453S,FLNB:NM_001164317:exon45:c.C7452T:p.S2484S 0.57 0.57 0.46 0.92 0.27 0.6 0.3852 0.5212 0.5390 0.9155 0.2561 0.2548 0.3139 0.4969 0.34 0.5 0.25 0.58 0.29 rs8640 COSM5019470;COSM5019471 10(soft_tissue) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000243570.2|RCV000395617.1 MedGen|MedGen CN169374|CN239400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3842 0.5167 0.5272 0.2276 0.9165 0.2531 0.2558 0.3287 0.4850 0.3704 0.5145 0.4904 0.1788 0.9137 0.2464 0.2581 0.3037 het 1354.81 123 3 58154327 . C T 1354.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.658;DP=123;Dels=0.00;FS=2.322;HRun=0;HaplotypeScore=1.3302;MQ=59.20;MQ0=0;MQRankSum=0.206;QD=11.01;ReadPosRankSum=0.983;VQSLOD=6.6927;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,56:123:99:1385,0,1710 3 58191244 58191244 G A exonic DNASE1L3 nonsynonymous SNV DNASE1L3:NM_004944:exon3:c.C274T:p.R92W 0.0002 . . . 0.001 . 0.0001 0 0 0 0 0.0002 0 0.0001 0.0005 . 0.0008 . . rs141477807 . . . . . . . . . . . . . 0.008 0.784 D 1.0 0.899 D 0.999 0.971 D 0.000 0.629 D 1.000 0.810 D 3.31 0.908 M 0.26 0.593 T -5.5 0.858 D 0.502 0.964 0.066 0.835 D 0.475 0.799 T 0.055 0.663 D 7.498 0.952 34 0.999 0.988 0.838 0.426 D c 0.792 0.728 1.000 0.517 0.615 0.372 0 5.77 0.910 1.064 0.300 1.041 0.660 0.956 0.331 0.994 0.587 14.289 0.657 Endonuclease/exonuclease/phosphatase . . 0.0002 0 5.956e-05 0 0 0 0.0003 0 6.497e-05 9.684e-05 0 0 0 0 0 0.0002 0 het 3161.68 248 3 58191244 . G A 3161.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.733;DP=248;DS;Dels=0.00;FS=2.138;HRun=1;HaplotypeScore=5.7389;MQ=59.22;MQ0=0;MQRankSum=0.433;QD=12.75;ReadPosRankSum=0.674;VQSLOD=3.5741;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,124:248:99:3192,0,3258 3 58416538 58416538 T C exonic PDHB synonymous SNV PDHB:NM_001315536:exon5:c.A381G:p.R127R,PDHB:NM_000925:exon6:c.A435G:p.R145R 0.98 0.95 0.99 1. 1. 1. 0.9948 0.9457 0.9967 0.9999 0.9995 0.9997 0.9989 1 0.98 0.94 1. 0.98 1. rs4264746 . . Benign not_specified RCV000127406.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.996 0.9469 0.9968 1 0.9999 0.9998 0.9996 0.9980 1 0.9847 0.9478 0.9928 1 1 1 0.9994 0.9980 hom 5567.03 164 3 58416538 . T C 5567.03 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7472;MQ=59.60;MQ0=0;QD=33.95;VQSLOD=9.1258;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:164:99:5567,430,0 3 58552329 58552329 C G exonic FAM107A nonsynonymous SNV FAM107A:NM_001076778:exon4:c.G421C:p.E141Q,FAM107A:NM_001282713:exon4:c.G505C:p.E169Q,FAM107A:NM_001282714:exon5:c.G514C:p.E172Q,FAM107A:NM_007177:exon5:c.G421C:p.E141Q 0.11 0.26 0.11 0.004 0.074 0.051 0.0858 0.2362 0.0855 0.0102 0.1022 0.0757 0.0907 0.0652 0.12 0.22 0.066 0.12 0.057 rs11539086 . . . . . . . . . . . . . 0.058 0.496 T 0.001 0.715 B 0.006 0.754 B 0.000 0.629 D 0.000 0.810 P 1.935 0.520 L 1.24 0.387 T -1.0 0.264 N 0.035 0.025 -1.188 0.003 T 0.000 0.000 T . . . 1.764 0.273 14.77 0.998 0.846 0.977 0.762 D c -0.064 -0.045 1.000 0.747 0.651 0.465 0 5.07 0.680 2.883 0.480 0.852 0.362 0.990 0.367 0.027 0.143 18.421 0.905 . . . 0.0817 0.2368 0.0846 0.0742 0.0087 0.1011 0.0720 0.0832 0.0654 0.1213 0.2337 0.0731 0.0828 0.0111 0.0974 0.0791 0.0881 hom 2849.68 94 3 58552329 . C G 2849.68 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.658;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5717;MQ=59.36;MQ0=0;MQRankSum=-0.726;QD=30.32;ReadPosRankSum=1.285;VQSLOD=8.6564;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,93:94:99:2883,198,0 3 62118299 62118299 A C exonic PTPRG synonymous SNV PTPRG:NM_002841:exon6:c.A639C:p.A213A . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.219e-05 0 0 0 0 0 2.687e-05 0 0 . . . . . . . . het 2703.94 249 3 62118299 . A C 2703.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.106;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2853;MQ=59.23;MQ0=0;MQRankSum=0.733;QD=10.86;ReadPosRankSum=-0.260;VQSLOD=3.0955;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:145,104:249:99:2734,0,4004 3 62229553 62229553 C T exonic PTPRG synonymous SNV PTPRG:NM_002841:exon15:c.C2448T:p.I816I 0.98 0.92 0.99 1. 1. 1. 0.9935 0.9295 0.9974 1 1 0.9997 0.9989 0.9998 0.98 0.93 1. 0.79 0.98 rs1352882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9951 0.9324 0.9965 1 1 1 0.9997 0.9965 0.9998 0.9817 0.9359 0.9988 1 1 1 0.9998 0.9980 hom 2471.73 86 3 62229553 . C T 2471.73 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6006;MQ=59.57;MQ0=0;QD=28.74;VQSLOD=8.6210;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2505,202,0 3 63968083 63968083 A G exonic ATXN7 nonsynonymous SNV ATXN7:NM_001128149:exon3:c.A539G:p.N180S,ATXN7:NM_001177387:exon6:c.A974G:p.N325S,ATXN7:NM_000333:exon7:c.A974G:p.N325S 0.02 0.061 0.0086 . 0.012 0.002 0.0140 0.0665 0.0104 0.0001 0.0048 0.0120 0.0178 0.0041 0.026 0.06 0.011 0.022 0.016 rs61736574 COSM5904746;COSM5904747 1(skin) . . . . . . . . . . . 0.708 0.046 T 0.0 0.026 B 0.001 0.093 B 0.159 0.177 N 0.992 0.239 N -0.28 0.037 N 2.63 0.129 T 0.32 0.056 N 0.015 0.006 -0.986 0.336 T 0.002 0.006 T . . . -1.992 0.008 0.001 0.508 0.044 0.354 0.251 N c -1.228 -1.119 1.000 0.489 0.615 0.372 0 -4.65 0.031 0.678 0.248 -0.576 0.046 0.995 0.385 0.967 0.454 8.553 0.324 . . . 0.0115 0.0593 0.0083 0.0206 0 0.0035 0.0107 0.0127 0.0036 0.0213 0.0567 0.0155 0.0066 0 0.0049 0.0081 0.0132 het 382.47 22 3 63968083 . A G 382.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.868;DP=22;Dels=0.00;FS=2.643;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.467;QD=17.38;ReadPosRankSum=-0.534;VQSLOD=5.7499;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,13:22:99:412,0,268 3 63981424 63981424 A G exonic ATXN7 synonymous SNV ATXN7:NM_001128149:exon8:c.A1491G:p.Q497Q,ATXN7:NM_001177387:exon11:c.A1926G:p.Q642Q,ATXN7:NM_000333:exon12:c.A1926G:p.Q642Q 0.021 0.063 0.0086 0.001 0.012 0.002 0.0118 0.0575 0.0083 0.0005 0.0042 0.0099 0.0167 0.0037 0.026 0.056 0.011 0.033 0.016 rs1053339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0116 0.0594 0.0080 0.0206 0.0003 0.0035 0.0107 0.0131 0.0036 0.0214 0.0567 0.0155 0.0066 0 0.0049 0.0083 0.0133 het 3048.75 250 3 63981424 . A G 3048.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.941;DP=250;DS;Dels=0.00;FS=1.020;HRun=0;HaplotypeScore=7.1999;MQ=59.50;MQ0=0;MQRankSum=-0.637;QD=12.19;ReadPosRankSum=-0.558;VQSLOD=4.5764;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:140,110:250:99:3079,0,3845 3 63982082 63982082 G A exonic ATXN7 nonsynonymous SNV ATXN7:NM_001128149:exon8:c.G2149A:p.V717M,ATXN7:NM_001177387:exon11:c.G2584A:p.V862M,ATXN7:NM_000333:exon12:c.G2584A:p.V862M 0.44 0.64 0.34 0.46 0.33 0.32 0.3477 0.5754 0.2933 0.4951 0.3130 0.3203 0.3531 0.2983 0.39 0.56 0.31 0.33 0.37 rs3774729 . . Likely benign not_specified RCV000116488.2 MedGen CN169374 . . . . . . 1.0 0.024 T 0.006 0.184 B 0.003 0.080 B 0.002 0.367 N 0.999 0.215 P -0.785 0.016 N 0.87 0.464 T 0.45 0.131 N 0.032 0.303 -0.951 0.408 T 0.000 0.000 T . . . 0.466 0.139 7.162 0.171 0.005 0.115 0.165 N c -1.200 -1.072 0.717 0.229 0.707 0.730 0 -1.61 0.079 -0.264 0.086 0.244 0.267 0.000 0.063 0.999 0.750 9.290 0.367 . . . 0.3435 0.5834 0.2953 0.4008 0.4952 0.3151 0.3141 0.3523 0.2997 0.4131 0.5806 0.3309 0.3567 0.4981 0.3448 0.3303 0.3824 het 2831.99 227 3 63982082 . G A 2831.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.986;DP=227;Dels=0.00;FS=0.491;HRun=0;HaplotypeScore=4.5297;MQ=59.29;MQ0=0;MQRankSum=-0.506;QD=12.48;ReadPosRankSum=-0.724;VQSLOD=5.7678;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,121:227:99:2862,0,2584 3 64133350 64133350 A G exonic PRICKLE2 synonymous SNV PRICKLE2:NM_198859:exon7:c.T816C:p.D272D 0.98 0.94 1. 1. 1. 1. 0.9945 0.9546 0.9950 1 0.9995 0.9981 0.9933 0.9999 0.98 0.96 1. 0.97 0.97 rs27673 . . Likely benign|Benign not_specified|Progressive_myoclonic_epilepsy RCV000118166.2|RCV000323664.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0751778:310370:ORPHA98261:267581004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9952 0.9530 0.9955 0.9999 1 0.9992 0.9977 0.9947 0.9996 0.9879 0.9612 0.9964 1 1 0.9991 0.9983 0.9949 hom 4368.98 138 3 64133350 . A G 4368.98 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6476;MQ=59.23;MQ0=0;QD=31.66;VQSLOD=7.7835;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4368,352,0 3 64142859 64142859 C T exonic PRICKLE2 synonymous SNV PRICKLE2:NM_198859:exon5:c.G579A:p.P193P 0.18 0.29 0.13 0.012 0.25 0.19 0.2022 0.2689 0.0927 0.0058 0.3054 0.2315 0.2295 0.1787 0.24 0.27 0.23 0.26 0.17 rs17720698 COSM3760216 1(large_intestine) other|Benign not_specified|Progressive_myoclonic_epilepsy RCV000118060.6|RCV000338421.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0751778:310370:ORPHA98261:267581004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2010 0.2714 0.1070 0.2251 0.0057 0.3116 0.2316 0.1949 0.1808 0.2549 0.2753 0.1325 0.2219 0.0080 0.3310 0.2581 0.2751 het 1110.77 108 3 64142859 . C T 1110.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.283;DP=108;Dels=0.00;FS=9.561;HRun=0;HaplotypeScore=2.5655;MQ=59.31;MQ0=0;MQRankSum=1.049;QD=10.28;ReadPosRankSum=-1.325;VQSLOD=4.3847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,44:108:99:1141,0,1659 3 64587818 64587818 G A exonic ADAMTS9 synonymous SNV ADAMTS9:NM_001318781:exon25:c.C3735T:p.I1245I,ADAMTS9:NM_182920:exon26:c.C3819T:p.I1273I 0.059 0.13 0.05 0.002 0.071 0.019 0.0632 0.1343 0.0254 0.0001 0.0951 0.0739 0.0441 0.0228 0.094 0.14 0.072 0.022 0.074 rs6771712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0614 0.1389 0.0296 0.0485 0.0002 0.0913 0.0753 0.0583 0.0245 0.0890 0.1318 0.0299 0.0497 0 0.0862 0.0798 0.0684 het 2716.04 193 3 64587818 . G A 2716.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.608;DP=193;DS;Dels=0.00;FS=1.799;HRun=1;HaplotypeScore=0.7340;MQ=59.23;MQ0=0;MQRankSum=-0.780;QD=14.07;ReadPosRankSum=-0.884;VQSLOD=6.3848;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:94,99:193:99:2746,0,2370 3 66419942 66419942 A G exonic SLC25A26 synonymous SNV SLC25A26:NM_001164796:exon7:c.A345G:p.A115A,SLC25A26:NM_001350992:exon7:c.A345G:p.A115A,SLC25A26:NM_001350991:exon8:c.A609G:p.A203A,SLC25A26:NM_001350993:exon9:c.A345G:p.A115A,SLC25A26:NM_173471:exon9:c.A609G:p.A203A 0.099 0.036 0.11 0.087 0.18 0.097 0.1761 0.0716 0.0948 0.0890 0.2266 0.2242 0.2035 0.1241 0.15 0.066 0.19 0.087 . rs1129179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1462 0.0557 0.0819 0.1180 0.0834 0.1987 0.1901 0.1426 0.1078 0.1495 0.0659 0.0897 0.1159 0.0900 0.2030 0.1951 0.1656 het 221.39 25 3 66419942 . A G 221.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.420;DP=25;Dels=0.00;FS=3.628;HRun=0;HaplotypeScore=0.0000;MQ=58.31;MQ0=0;MQRankSum=-1.496;QD=8.86;ReadPosRankSum=-1.985;VQSLOD=3.3245;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:251,0,371 3 66419956 66419956 C T exonic SLC25A26 nonsynonymous SNV SLC25A26:NM_001164796:exon7:c.C359T:p.T120M,SLC25A26:NM_001350992:exon7:c.C359T:p.T120M,SLC25A26:NM_001350991:exon8:c.C623T:p.T208M,SLC25A26:NM_001350993:exon9:c.C359T:p.T120M,SLC25A26:NM_173471:exon9:c.C623T:p.T208M 0.68 0.84 0.62 0.77 0.48 0.63 0.5875 0.7940 0.7056 0.7822 0.5556 0.4995 0.5789 0.6111 0.56 0.78 0.44 0.74 . rs13874 COSM4158300 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.810 P -2.695 0.000 N -1.19 0.784 T 5.3 0.000 N 0.098 0.448 -0.919 0.457 T 0.000 0.000 T . . . 1.414 0.233 12.86 0.085 0.001 0.022 0.064 N c -1.037 -0.699 1.000 0.747 0.732 0.924 0 5.49 0.809 5.075 0.640 0.090 0.195 1.000 0.715 0.858 0.358 11.481 0.494 Mitochondrial carrier domain ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13 Artery_Aorta|Artery_Tibial|Colon_Transverse|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Stomach|Testis|Thyroid 0.5412 0.7882 0.6548 0.3901 0.7799 0.5208 0.4429 0.5134 0.5839 0.5844 0.7808 0.6328 0.4305 0.7868 0.5266 0.4651 0.5399 het 240.57 25 3 66419956 . C T 240.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.804;DP=25;Dels=0.00;FS=1.623;HRun=0;HaplotypeScore=0.9933;MQ=59.07;MQ0=0;MQRankSum=-0.860;QD=9.62;ReadPosRankSum=0.250;VQSLOD=6.2852;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,10:25:99:271,0,389 3 66430870 66430870 G A exonic LRIG1 synonymous SNV LRIG1:NM_015541:exon19:c.C3099T:p.S1033S 0.044 0.003 0.053 0.018 0.088 0.077 0.0593 0.0136 0.0422 0.0180 0.0522 0.0710 0.0562 0.0772 0.052 0.016 0.071 0.033 0.033 rs61754218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0580 0.0115 0.0442 0.0469 0.0184 0.0483 0.0721 0.0600 0.0783 0.0478 0.0153 0.0477 0.0430 0.0154 0.0552 0.0681 0.0540 het 3124.28 230 3 66430870 . G A 3124.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.093;DP=230;Dels=0.00;FS=1.045;HRun=0;HaplotypeScore=4.2770;MQ=59.33;MQ0=0;MQRankSum=0.488;QD=13.58;ReadPosRankSum=1.159;VQSLOD=5.6551;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,109:230:99:3154,0,3528 3 66433676 66433676 A G exonic LRIG1 synonymous SNV LRIG1:NM_015541:exon15:c.T2221C:p.L741L 0.69 0.72 0.64 0.8 0.6 0.68 0.6227 0.7122 0.6856 0.8243 0.5810 0.5685 0.6046 0.6537 0.61 0.7 0.56 0.73 0.57 rs900171 COSM4158303 1(breast);2(thyroid) Benign not_specified RCV000454580.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6193 0.7148 0.6718 0.4748 0.8230 0.5828 0.5714 0.6017 0.6497 0.6350 0.7217 0.6563 0.5364 0.8248 0.5948 0.5767 0.5982 het 2189.23 144 3 66433676 . A G 2189.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.435;DP=144;Dels=0.00;FS=0.638;HRun=1;HaplotypeScore=7.7975;MQ=59.36;MQ0=0;MQRankSum=0.985;QD=15.20;ReadPosRankSum=-0.823;VQSLOD=4.1522;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,76:144:99:2219,0,2021 3 66444615 66444615 G A exonic LRIG1 synonymous SNV LRIG1:NM_015541:exon12:c.C1317T:p.S439S 0.28 0.51 0.36 0.058 0.24 0.19 0.2686 0.4719 0.3946 0.0829 0.3194 0.2352 0.27 0.2573 0.31 0.45 0.23 0.29 0.21 rs6793110 COSM149417 1(stomach) Benign not_specified RCV000455658.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2587 0.4641 0.3747 0.1424 0.0784 0.3081 0.2338 0.2372 0.2176 0.3001 0.4584 0.3337 0.1633 0.0784 0.2987 0.2370 0.2413 het 515.75 48 3 66444615 . G A 515.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.291;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;MQRankSum=-2.161;QD=10.74;ReadPosRankSum=-0.977;VQSLOD=5.2634;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,21:48:99:546,0,666 3 69082708 69082708 C G exonic TMF1 nonsynonymous SNV TMF1:NM_007114:exon10:c.G2392C:p.D798H 0.057 0.011 0.076 0.001 0.15 0.064 0.1063 0.0226 0.0622 0.0002 0.0870 0.1464 0.1024 0.0883 0.11 0.024 0.15 0.087 0.24 rs1532918 COSM3760218 1(large_intestine) . . . . . . . . . . . 0.014 0.531 D 1.0 0.899 D 0.995 0.818 D 0.000 0.629 D 0.000 0.588 P 2.24 0.636 M 2.15 0.193 T -3.11 0.636 D 0.695 0.700 -1.265 0.000 T 0.001 0.003 T . . . 6.556 0.902 31 0.996 0.769 0.980 0.788 D c 0.851 0.856 1.0 0.983 0.731 0.878 0 5.83 0.930 7.905 0.864 0.932 0.445 1.000 0.715 1.000 0.888 20.134 0.980 . ENSG00000163378.9 Cells_Transformed_fibroblasts 0.1045 0.0228 0.0651 0.1862 5.841e-05 0.0854 0.1447 0.1126 0.0872 0.0872 0.0275 0.0704 0.2252 0.0019 0.0753 0.1308 0.1092 het 885.81 79 3 69082708 . C G 885.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.231;DP=79;Dels=0.00;FS=0.858;HRun=0;HaplotypeScore=3.3471;MQ=58.09;MQ0=0;MQRankSum=0.663;QD=11.21;ReadPosRankSum=-1.246;VQSLOD=5.0624;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,35:79:99:916,0,1041 3 69230061 69230061 G A exonic FRMD4B nonsynonymous SNV FRMD4B:NM_015123:exon21:c.C2840T:p.S947L 0.77 0.61 0.88 0.64 0.99 0.81 0.9032 0.6481 0.8890 0.5950 0.9924 0.9918 0.9344 0.8284 0.88 0.65 0.99 0.79 . rs9831516 COSM4415327;COSM4415326 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.103 0.305 T 1.0 0.899 D 0.994 0.807 D 0.000 0.843 D 0.000 0.588 P 2.395 0.694 M -2.21 0.870 D -1.5 0.368 N 0.365 0.635 -0.908 0.471 T 0.000 0.000 T . . . 5.993 0.824 27.8 0.997 0.801 0.994 0.957 D c 0.844 0.846 1.0 0.983 0.507 0.198 0 5.83 0.930 9.602 0.976 0.998 0.613 1.000 0.715 0.999 0.750 20.114 0.979 . . . 0.9047 0.6410 0.8883 0.9911 0.5949 0.9918 0.9916 0.9469 0.8207 0.8687 0.6462 0.9019 0.9934 0.5774 0.9934 0.9903 0.9511 hom 5502.45 182 3 69230061 . G A 5502.45 Mask AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5313;MQ=59.22;MQ0=0;QD=30.23;VQSLOD=9.2352;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5502,421,0 3 69230801 69230801 G A exonic FRMD4B synonymous SNV FRMD4B:NM_015123:exon21:c.C2100T:p.H700H 0.77 0.61 0.88 0.64 0.99 0.81 0.9031 0.6505 0.8893 0.6001 0.9924 0.9918 0.9350 0.8224 0.88 0.66 0.99 0.79 . rs9836305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9058 0.6430 0.8883 0.9913 0.5959 0.9920 0.9916 0.9470 0.8205 0.8692 0.6479 0.8998 0.9934 0.5771 0.9931 0.9903 0.9519 hom 1278.57 37 3 69230801 . G A 1278.57 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=34.56;VQSLOD=9.1655;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1312,108,0 3 69245454 69245454 T C exonic FRMD4B nonsynonymous SNV FRMD4B:NM_015123:exon14:c.A1186G:p.T396A 0.97 0.89 0.99 1. 1. 1. 0.9914 0.8997 0.9968 1 1 0.9999 0.9944 0.9998 0.97 0.9 1. 0.99 . rs9310141 . . . . . . . . . . . . . 0.582 0.104 T 0.0 0.026 B 0.0 0.013 B 0.022 0.268 N 0.997 0.228 P -1.265 0.007 N -1.44 0.808 T 0.32 0.056 N 0.027 0.075 -0.952 0.406 T 0.000 0.000 T . . . 2.091 0.312 16.80 0.956 0.268 0.037 0.089 N c -0.740 -0.504 1.000 0.747 0.722 0.854 0 6.07 0.987 1.720 0.374 0.040 0.155 0.251 0.246 0.958 0.437 15.696 0.772 PH domain-like . . 0.9928 0.8975 0.9959 1 1 1 0.9998 0.9953 0.9996 0.9697 0.8942 0.9940 1 1 1 0.9997 0.9939 hom 7091.62 210 3 69245454 . T C 7091.62 Mask AC=2;AF=1.00;AN=2;DP=210;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.27;MQ0=0;QD=33.77;VQSLOD=9.4653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,210:210:99:7091,548,0 3 69246152 69246152 A G exonic FRMD4B synonymous SNV FRMD4B:NM_015123:exon13:c.T991C:p.L331L 0.75 0.54 0.92 0.66 0.95 0.79 0.8717 0.5624 0.9477 0.6211 0.9525 0.9464 0.8906 0.7972 0.83 0.57 0.95 0.78 . rs13059488 COSM4415415;COSM4415416 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8809 0.5546 0.9452 0.9506 0.6272 0.9516 0.9467 0.9145 0.7967 0.8168 0.5617 0.9475 0.9570 0.6056 0.9516 0.9409 0.8988 hom 1637.79 49 3 69246152 . A G 1637.79 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.42;VQSLOD=13.6724;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1671,129,0 3 72971366 72971366 G A exonic GXYLT2 stopgain GXYLT2:NM_001080393:exon3:c.G480A:p.W160X 0.0002 . . . 0.001 . . . . . . . . . . . . . . rs558244198 . . . . . . . . . . . . . . . . . . . . . . 0.000 0.843 D 1 0.810 A . . . . . . . . . . . . . . . . . . . . 13.621 0.992 42 0.997 0.836 0.997 0.983 D c 1.018 0.913 1.000 0.747 0.615 0.372 0 5.78 0.914 8.972 0.929 1.048 0.713 1.000 0.715 0.997 0.653 19.632 0.957 Nucleotide-diphospho-sugar transferases . . . . . . . . . . . . . . . . . . . het 3026.67 245 3 72971366 . G A 3026.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.989;DP=245;DS;Dels=0.00;FS=1.553;HRun=0;HaplotypeScore=2.9912;MQ=59.41;MQ0=0;MQRankSum=0.069;QD=12.35;ReadPosRankSum=0.111;VQSLOD=4.9660;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:125,120:245:99:3057,0,3450 3 73433369 73433369 G A exonic PDZRN3 nonsynonymous SNV PDZRN3:NM_001303139:exon8:c.C1442T:p.A481V,PDZRN3:NM_001303140:exon8:c.C1319T:p.A440V,PDZRN3:NM_001303141:exon8:c.C1514T:p.A505V,PDZRN3:NM_001303142:exon8:c.C1499T:p.A500V,PDZRN3:NM_015009:exon10:c.C2348T:p.A783V 0.27 0.064 0.34 0.44 0.35 0.24 0.3232 0.1013 0.3311 0.4634 0.4623 0.3408 0.3664 0.2539 0.26 0.11 0.33 0.26 0.25 rs3205537 COSM4158318;COSM4158319;COSM3760228 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.234 0.390 T 0.005 0.272 B 0.005 0.145 B 0.134 0.028 N 1.000 0.189 P 1.195 0.303 L 2.91 0.100 T -0.63 0.291 N 0.024 0.199 -0.903 0.477 T 0.000 0.000 T . . . 0.035 0.097 2.927 0.944 0.242 0.557 0.297 D c -0.464 -0.437 0.999 0.372 0.706 0.609 0 4.05 0.462 3.674 0.541 1.048 0.713 0.852 0.302 0.017 0.128 13.179 0.589 . . . 0.3314 0.0978 0.3358 0.3644 0.4657 0.4616 0.3334 0.3403 0.2552 0.2942 0.1091 0.3429 0.3433 0.4740 0.4507 0.3379 0.3650 het 777.71 76 3 73433369 . G A 777.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.632;DP=76;Dels=0.00;FS=3.263;HRun=0;HaplotypeScore=1.6006;MQ=58.59;MQ0=0;MQRankSum=0.233;QD=10.23;ReadPosRankSum=-0.277;VQSLOD=6.0641;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,34:76:99:808,0,1073 3 73433494 73433494 T C exonic PDZRN3 synonymous SNV PDZRN3:NM_001303139:exon8:c.A1317G:p.S439S,PDZRN3:NM_001303140:exon8:c.A1194G:p.S398S,PDZRN3:NM_001303141:exon8:c.A1389G:p.S463S,PDZRN3:NM_001303142:exon8:c.A1374G:p.S458S,PDZRN3:NM_015009:exon10:c.A2223G:p.S741S 0.36 0.13 0.43 0.54 0.47 0.31 0.4283 0.1753 0.4037 0.5785 0.5639 0.4658 0.4645 0.3192 0.36 0.18 0.46 0.36 0.34 rs13091636 COSM4158322;COSM4158320;COSM4158321 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4351 0.1717 0.4136 0.4544 0.5803 0.5710 0.4606 0.4502 0.3189 0.4000 0.1846 0.4306 0.4564 0.5916 0.5621 0.4589 0.4825 het 841.80 73 3 73433494 . T C 841.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.048;DP=73;Dels=0.00;FS=6.255;HRun=1;HaplotypeScore=2.5953;MQ=60.00;MQ0=0;MQRankSum=-0.061;QD=11.53;ReadPosRankSum=-0.447;VQSLOD=4.7269;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,35:73:99:872,0,1177 3 73453325 73453325 C T exonic PDZRN3 synonymous SNV PDZRN3:NM_001303139:exon2:c.G234A:p.V78V,PDZRN3:NM_001303140:exon2:c.G111A:p.V37V,PDZRN3:NM_001303141:exon2:c.G306A:p.V102V,PDZRN3:NM_001303142:exon2:c.G291A:p.V97V,PDZRN3:NM_015009:exon4:c.G1140A:p.V380V 0.6 0.48 0.63 0.84 0.56 0.55 0.5936 0.4910 0.6515 0.8472 0.6964 0.5666 0.5914 0.5528 0.53 0.5 0.55 0.67 0.59 rs2291463 COSM5618810;COSM5618811;COSM5618809 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5991 0.4861 0.6389 0.5322 0.8465 0.6971 0.5638 0.5928 0.5525 0.5891 0.5048 0.6151 0.5533 0.8540 0.7039 0.5803 0.6155 hom 3182.56 108 3 73453325 . C T 3182.56 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=29.47;VQSLOD=8.9377;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3216,265,0 3 73453541 73453541 G A exonic PDZRN3 synonymous SNV PDZRN3:NM_001303139:exon2:c.C18T:p.N6N,PDZRN3:NM_001303141:exon2:c.C90T:p.N30N,PDZRN3:NM_001303142:exon2:c.C75T:p.N25N,PDZRN3:NM_015009:exon4:c.C924T:p.N308N 0.0024 . . . 0.0099 0.002 0.0048 0.0014 0.0016 0 0.0021 0.0072 0.0034 0.0028 0.0048 0.0018 0.0064 0.011 . rs61756474 COSM4783454;COSM4783455;COSM1425295 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0046 0.0011 0.0020 0.0087 0 0.0023 0.0074 0.0030 0.0023 0.0041 0.0014 0.0012 0.0099 0 0.0014 0.0067 0.0051 het 1599.99 127 3 73453541 . G A 1599.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.294;DP=127;Dels=0.00;FS=4.423;HRun=0;HaplotypeScore=0.8941;MQ=58.57;MQ0=0;MQRankSum=1.515;QD=12.50;ReadPosRankSum=1.370;VQSLOD=5.0109;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,59:127:99:1630,0,1628 3 78700901 78700901 G T exonic ROBO1 synonymous SNV ROBO1:NM_001145845:exon18:c.C2685A:p.T895T,ROBO1:NM_133631:exon18:c.C2685A:p.T895T,ROBO1:NM_002941:exon19:c.C2793A:p.T931T 0.22 0.17 0.22 0.22 0.26 0.24 0.2246 0.1790 0.1603 0.2189 0.2361 0.2371 0.2336 0.2437 0.22 0.17 0.24 0.25 . rs6795556 COSM3760252;COSM3760251;COSM3760249;COSM3760250 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2224 0.1759 0.1617 0.2791 0.2099 0.2336 0.2366 0.2320 0.2386 0.2105 0.1721 0.1885 0.2682 0.1900 0.2504 0.2258 0.2106 het 623.95 48 3 78700901 . G T 623.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.621;DP=48;Dels=0.00;FS=4.590;HRun=0;HaplotypeScore=0.7340;MQ=59.61;MQ0=0;MQRankSum=-1.424;QD=13.00;ReadPosRankSum=-0.846;VQSLOD=5.6648;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,23:48:99:654,0,744 3 78717343 78717343 C T exonic ROBO1 synonymous SNV ROBO1:NM_001145845:exon12:c.G1632A:p.S544S,ROBO1:NM_133631:exon12:c.G1632A:p.S544S,ROBO1:NM_002941:exon13:c.G1740A:p.S580S 0.28 0.43 0.24 0.22 0.25 0.21 0.2342 0.3981 0.1646 0.2198 0.2387 0.2325 0.2105 0.1993 0.28 0.37 0.24 0.35 . rs2271151 COSM3760254;COSM3760253;COSM3760255;COSM3760256 7(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2312 0.4061 0.1684 0.2375 0.2154 0.2375 0.2367 0.2315 0.1950 0.2710 0.3941 0.1957 0.2152 0.1836 0.2527 0.2227 0.2082 het 1135.61 89 3 78717343 . C T 1135.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DP=89;Dels=0.00;FS=4.961;HRun=0;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;MQRankSum=-0.546;QD=12.76;ReadPosRankSum=-0.464;VQSLOD=5.5386;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,44:89:99:1166,0,1197 3 81643167 81643167 T C exonic GBE1 nonsynonymous SNV GBE1:NM_000158:exon8:c.A1000G:p.I334V 0.98 1. 0.99 1. 0.97 0.96 0.9728 0.9949 0.9917 0.9997 0.9603 0.9678 0.9753 0.9618 0.98 1. 0.97 0.99 . rs2172397 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.629 N 0.999 0.214 P -3.145 0.000 N -1.21 0.787 T 0.95 0.015 N 0.193 0.236 -0.923 0.451 T 0.000 0.000 T . . . 0.541 0.146 7.739 0.488 0.040 0.209 0.210 N c -0.884 -0.520 1.000 0.747 0.732 0.924 0 5.65 0.868 5.820 0.687 0.040 0.155 1.000 0.715 0.999 0.750 14.493 0.671 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain . . 0.9753 0.9955 0.9905 0.9877 0.9999 0.9589 0.9691 0.9782 0.9642 0.9732 0.9951 0.9928 0.9801 1 0.9542 0.9615 0.9633 hom 327.69 11 3 81643167 . T C 327.69 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.79;VQSLOD=13.2540;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:361,27,0 3 87295049 87295049 T C exonic CHMP2B synonymous SNV CHMP2B:NM_001244644:exon2:c.T189C:p.T63T,CHMP2B:NM_014043:exon3:c.T312C:p.T104T 0.82 0.5 0.94 0.91 0.94 0.93 0.9060 0.5710 0.9390 0.8974 0.9279 0.9421 0.9150 0.9410 0.82 0.58 0.94 0.79 0.93 rs11540913 . . not provided|Benign|Benign not_provided|not_specified|Frontotemporal_dementia RCV000084272.1|RCV000252941.1|RCV000293185.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN221809|CN169374|C0338451:600274:ORPHA282:230270009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9125 0.5689 0.9338 0.9151 0.8950 0.9300 0.9432 0.9269 0.9428 0.8308 0.5705 0.9224 0.91 0.8946 0.9238 0.9411 0.9151 hom 3187.60 111 3 87295049 . T C 3187.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.638;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4911;MQ=58.56;MQ0=0;MQRankSum=-0.453;QD=28.72;ReadPosRankSum=-0.609;VQSLOD=7.3280;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,110:111:99:3221,221,0 3 88188420 88188420 G A exonic ZNF654 nonsynonymous SNV ZNF654:NM_001350135:exon6:c.G1262A:p.S421N,ZNF654:NM_001350136:exon7:c.G965A:p.S322N,ZNF654:NM_001350137:exon7:c.G779A:p.S260N,ZNF654:NM_001350134:exon8:c.G1601A:p.S534N 0.78 0.57 0.85 0.84 0.84 0.91 0.8381 0.6102 0.8703 0.8491 0.8204 0.8553 0.8522 0.9127 0.79 0.63 0.86 0.71 . rs9813894 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8363 0.5985 0.8667 0.9015 0.8447 0.8210 0.8513 0.8502 0.9101 0.7852 0.6103 0.8465 0.9172 0.8249 0.8233 0.8632 0.8528 hom 644.24 20 3 88188420 . G A 644.24 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;QD=32.21;VQSLOD=9.1687;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:54.17:677,54,0 3 88189341 88189341 T C exonic ZNF654 nonsynonymous SNV ZNF654:NM_001350135:exon6:c.T2183C:p.I728T,ZNF654:NM_001350136:exon7:c.T1886C:p.I629T,ZNF654:NM_001350137:exon7:c.T1700C:p.I567T,ZNF654:NM_001350134:exon8:c.T2522C:p.I841T 0.78 0.57 0.85 0.84 0.84 0.91 0.8426 0.6070 0.8716 0.8473 0.8207 0.8566 0.8627 0.9104 0.79 0.64 0.86 0.71 . rs7653652 COSM4158673;COSM4158674 1(thyroid) . . . . . . . . . . . 0.341 0.127 T 0.039 0.197 B 0.016 0.166 B 0.488 0.121 N 0.980 0.588 P -0.69 0.019 N 1.33 0.350 T -0.98 0.260 N 0.109 0.117 -0.966 0.380 T 0.000 0.000 T . . . 0.286 0.121 5.554 0.801 0.126 0.228 0.217 N c -0.378 -0.222 1.000 0.462 0.651 0.465 0 4.73 0.593 1.127 0.308 1.061 0.807 0.002 0.151 1.000 0.888 7.981 0.292 . ENSG00000179021.5|ENSG00000179021.5|ENSG00000179021.5|ENSG00000175105.5|ENSG00000179021.5|ENSG00000179021.5|ENSG00000175105.5|ENSG00000179021.5|ENSG00000179021.5|ENSG00000179021.5|ENSG00000179021.5|ENSG00000179021.5 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8447 0.6009 0.8695 0.9008 0.8440 0.8222 0.8522 0.8501 0.9090 0.7850 0.6098 0.8469 0.9172 0.8243 0.8242 0.8629 0.8544 hom 5192.17 181 3 88189341 . T C 5192.17 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4914;MQ=58.68;MQ0=0;QD=28.69;VQSLOD=7.0976;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5192,385,0 3 88199298 88199298 T C exonic C3orf38 synonymous SNV C3orf38:NM_173824:exon1:c.T96C:p.T32T 0.78 0.57 0.85 0.84 0.84 0.91 0.8413 0.6046 0.8725 0.8474 0.8203 0.8568 0.8614 0.9103 0.77 0.62 0.85 0.71 0.8 rs6551278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8448 0.6007 0.8702 0.9008 0.8440 0.8222 0.8523 0.8498 0.9091 0.7849 0.6099 0.8473 0.9172 0.8241 0.8233 0.8629 0.8548 hom 2854.14 99 3 88199298 . T C 2854.14 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=58.77;MQ0=0;QD=28.83;VQSLOD=8.5434;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2887,238,0 3 93768268 93768268 C G exonic ARL13B nonsynonymous SNV ARL13B:NM_144996:exon6:c.C722G:p.T241S,ARL13B:NM_001174151:exon7:c.C734G:p.T245S,ARL13B:NM_001174150:exon8:c.C1043G:p.T348S,ARL13B:NM_182896:exon8:c.C1043G:p.T348S,ARL13B:NM_001321328:exon9:c.C998G:p.T333S 0.078 0.003 0.076 0.086 0.11 0.14 0.1010 0.0208 0.0561 0.0762 0.0948 0.1150 0.1090 0.1396 0.087 0.022 0.12 0.043 0.066 rs33944211 COSM3760260;COSM3760259 1(large_intestine) other|Likely benign not_specified|Joubert_syndrome RCV000116417.4|RCV000274655.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0431399:ORPHA475:253175003:716997004 . . . . . . 0.053 0.421 T 0.091 0.237 B 0.045 0.243 B 0.218 0.162 N 0.993 0.238 P 0.6 0.156 N 1.71 0.641 T -0.02 0.082 N 0.041 0.055 -0.954 0.404 T 0.004 0.014 T . . . 1.985 0.299 16.11 0.971 0.317 0.655 0.325 D c -0.195 -0.094 0.000 0.058 0.615 0.372 0 3.02 0.338 0.254 0.179 0.892 0.403 0.797 0.294 1.000 0.888 12.434 0.547 . . . 0.0980 0.0187 0.0589 0.1361 0.0717 0.0956 0.1110 0.1040 0.1371 0.0834 0.0197 0.0835 0.1623 0.0557 0.0991 0.1164 0.1150 het 649.18 48 3 93768268 . C G 649.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.835;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5584;MQ=58.24;MQ0=0;MQRankSum=1.454;QD=13.52;ReadPosRankSum=-1.454;VQSLOD=4.5402;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,24:48:99:679,0,583 3 93779860 93779860 C T exonic DHFR2 nonsynonymous SNV DHFR2:NM_001195643:exon2:c.G496A:p.V166I,DHFR2:NM_176815:exon2:c.G496A:p.V166I 0.077 0.003 0.076 0.086 0.11 0.14 0.0974 0.0202 0.0547 0.0726 0.0942 0.1105 0.1046 0.1372 0.086 0.022 0.12 0.043 0.082 rs17855824 COSM4158677 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.117 0.282 T 0.674 0.393 P 0.341 0.407 B 0.006 0.322 U 0.347 0.330 P 1.6 0.409 L -0.57 0.713 T -0.71 0.202 N 0.016 0.003 -1.077 0.080 T 0.004 0.012 T . . . 1.953 0.296 15.92 0.955 0.265 0.010 0.037 N c -0.478 -0.583 0.572 0.215 0.651 0.465 0 0.311 0.150 0.415 0.208 0.450 0.277 0.000 0.063 0.903 0.383 3.864 0.085 Dihydrofolate reductase domain|Dihydrofolate reductase-like domain . . 0.0972 0.0193 0.0602 0.1055 0.0709 0.0954 0.1113 0.1033 0.1375 0.0829 0.0201 0.0827 0.1325 0.0549 0.0997 0.1157 0.1135 het 1777.26 165 3 93779860 . C T 1777.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.439;DP=165;Dels=0.00;FS=4.605;HRun=0;HaplotypeScore=2.5922;MQ=58.47;MQ0=0;MQRankSum=0.496;QD=10.77;ReadPosRankSum=0.688;VQSLOD=5.1647;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,73:165:99:1807,0,2360 3 97607290 97607290 G A exonic CRYBG3 synonymous SNV CRYBG3:NM_153605:exon9:c.G7395A:p.P2465P 0.2 0.11 0.32 0.16 0.28 0.21 0.2719 0.1285 0.3268 0.1557 0.3400 0.3016 0.2857 0.2304 0.24 0.12 0.29 0.14 0.25 rs13065340 COSM149431 1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2715 0.1237 0.3128 0.2477 0.1534 0.3318 0.2991 0.2945 0.2264 0.2501 0.1251 0.3067 0.2333 0.1532 0.3291 0.3106 0.2699 het 401.04 43 3 97607290 . G A 401.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.301;DP=43;Dels=0.00;FS=4.638;HRun=0;HaplotypeScore=0.0000;MQ=57.69;MQ0=0;MQRankSum=0.110;QD=9.33;ReadPosRankSum=-1.424;VQSLOD=4.4199;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,20:43:99:431,0,614 3 97660084 97660084 C T exonic CRYBG3 synonymous SNV CRYBG3:NM_153605:exon20:c.C8598T:p.C2866C 0.2 0.11 0.31 0.15 0.28 0.21 0.2696 0.1271 0.3235 0.1441 0.3406 0.3002 0.28 0.2293 0.23 0.12 0.28 0.14 0.3 rs11544446 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2702 0.1236 0.3092 0.2528 0.1441 0.3321 0.2985 0.2920 0.2254 0.2501 0.1265 0.3055 0.2450 0.1454 0.3295 0.3104 0.2684 het 895.18 60 3 97660084 . C T 895.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.203;DP=60;Dels=0.00;FS=3.606;HRun=0;HaplotypeScore=0.9992;MQ=58.84;MQ0=0;MQRankSum=-0.090;QD=14.92;ReadPosRankSum=-0.930;VQSLOD=5.9809;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,35:60:99:925,0,708 3 97660106 97660106 A C exonic CRYBG3 nonsynonymous SNV CRYBG3:NM_153605:exon20:c.A8620C:p.N2874H 0.48 0.26 0.51 0.69 0.51 0.51 0.5083 0.2919 0.5506 0.6960 0.5486 0.5095 0.4811 0.4903 0.44 0.29 0.51 0.43 0.48 rs4857302 COSM3765100;COSM3765099 1(pancreas);1(skin);1(central_nervous_system) . . . . . . . . . . . . . . 0.963 0.537 D 0.671 0.513 P 0.040 0.241 N 1 0.090 P 1.935 0.520 L . . . . . . 0.148 0.175 -1.002 0.294 T 0.000 0.000 T . . . 0.911 0.181 10.14 0.979 0.360 0.154 0.187 N c -0.493 -0.573 0.008 0.117 0.651 0.465 0 3.35 0.373 0.715 0.253 -0.163 0.107 0.315 0.252 0.720 0.314 5.992 0.186 Ricin B\x2c lectin domain . . 0.5162 0.2889 0.5605 0.5245 0.6865 0.5533 0.5075 0.4937 0.4905 0.4633 0.2919 0.5695 0.5464 0.6862 0.5542 0.5057 0.5429 het 817.64 71 3 97660106 . A C 817.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.203;DP=71;Dels=0.00;FS=8.183;HRun=0;HaplotypeScore=4.3139;MQ=59.35;MQ0=0;MQRankSum=0.180;QD=11.52;ReadPosRankSum=0.933;VQSLOD=4.7981;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,31:71:99:848,0,941 3 97664725 97664725 C T exonic RIOX2 nonsynonymous SNV RIOX2:NM_001042533:exon9:c.G1156A:p.A386T,RIOX2:NM_001261829:exon9:c.G1153A:p.A385T,RIOX2:NM_032778:exon9:c.G1153A:p.A385T,RIOX2:NM_153182:exon9:c.G1156A:p.A386T 0.48 0.26 0.51 0.67 0.51 0.51 0.5041 0.2913 0.5477 0.6818 0.5467 0.5070 0.4801 0.4879 0.44 0.29 0.51 0.43 0.45 rs2172257 COSM447109 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . 0.57 0.064 T 0.004 0.112 B 0.01 0.139 B 0.162 0.176 N 1.000 0.203 P 0.31 0.103 N 2.71 0.122 T -0.69 0.197 N 0.011 0.067 -1.027 0.215 T 0.000 0.000 T . . . 1.507 0.243 13.35 0.905 0.191 0.028 0.075 N c -0.777 -0.640 0.071 0.156 0.707 0.730 0 1.6 0.226 -0.496 0.065 -0.330 0.074 0.150 0.234 0.988 0.529 5.47 0.158 . . . 0.5124 0.2877 0.5565 0.5231 0.6747 0.5509 0.5044 0.4903 0.4869 0.4611 0.2912 0.5646 0.5464 0.6770 0.5531 0.5034 0.5371 het 547.67 41 3 97664725 . C T 547.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.111;DP=41;Dels=0.00;FS=6.287;HRun=2;HaplotypeScore=1.5317;MQ=56.65;MQ0=0;MQRankSum=0.928;QD=13.36;ReadPosRankSum=0.484;VQSLOD=3.4583;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,22:41:99:578,0,500 3 97673268 97673268 A C exonic RIOX2 synonymous SNV RIOX2:NM_001042533:exon5:c.T753G:p.S251S,RIOX2:NM_001261829:exon5:c.T753G:p.S251S,RIOX2:NM_032778:exon5:c.T753G:p.S251S,RIOX2:NM_153182:exon5:c.T753G:p.S251S 0.99 1. 1. 0.98 1. 0.99 0.9972 0.9947 0.9989 0.9753 1 0.9996 0.9989 0.9981 1. 0.99 1. 0.99 0.98 rs832079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9972 0.9946 0.9985 0.9985 0.9741 1 0.9997 0.9991 0.9985 0.9974 0.9956 0.9976 1 0.9759 1 0.9999 1 hom 1928.83 64 3 97673268 . A C 1928.83 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=30.14;VQSLOD=8.8642;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1962,162,0 3 97806616 97806616 G A exonic OR5AC2 nonsynonymous SNV OR5AC2:NM_054106:exon1:c.G600A:p.M200I 0.52 0.54 0.55 0.45 0.51 0.58 0.5099 0.5188 0.5340 0.4600 0.4820 0.5051 0.5156 0.5439 0.52 0.52 0.51 0.47 0.38 rs4518168 COSM5904772 1(skin) . . . . . . . . . . . 0.22 0.189 T 0.0 0.026 B 0.01 0.139 B 0.166 0.031 N 1 0.090 P 0.305 0.102 N 1.27 0.361 T -0.96 0.255 N 0.081 0.074 -0.913 0.465 T 0.000 0.000 T . . . -0.045 0.089 2.178 0.614 0.065 0.024 0.067 N c -1.133 -1.145 0.000 0.029 0.487 0.133 0 1.48 0.218 -0.203 0.094 0.028 0.149 0.000 0.063 0.001 0.043 3.429 0.069 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5071 0.5153 0.5254 0.4878 0.4500 0.4867 0.5049 0.5129 0.5432 0.5087 0.5083 0.5347 0.4433 0.4515 0.4980 0.5192 0.4826 het 883.09 59 3 97806616 . G A 883.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.251;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6487;MQ=60.00;MQ0=0;MQRankSum=0.008;QD=14.97;ReadPosRankSum=0.738;VQSLOD=5.7502;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,32:59:99:913,0,791 3 97806944 97806944 T C exonic OR5AC2 stoploss OR5AC2:NM_054106:exon1:c.T928C:p.X310Q 0.11 0.098 0.13 0.0069 0.24 0.096 0.1901 0.1385 0.0893 0.0042 0.2383 0.2469 0.1950 0.1299 0.21 0.14 0.24 0.13 0.23 rs80220955 COSM3760266 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . 0.641 0.155 8.433 0.533 0.048 0.008 0.032 N c -0.095 -0.470 0.000 0.029 0.054 0.004 0 1.53 0.221 0.122 0.154 -0.675 0.039 0.000 0.063 0.000 0.016 5.738 0.172 . . . 0.1832 0.1343 0.1007 0.2610 0.0044 0.2418 0.2388 0.2019 0.1164 0.1914 0.1497 0.1217 0.2967 0.0049 0.2426 0.2247 0.2057 het 376.50 38 3 97806944 . T C 376.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.763;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.39;MQ0=0;MQRankSum=-1.941;QD=9.91;ReadPosRankSum=2.150;VQSLOD=4.4256;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,15:38:99:406,0,603 3 97868970 97868970 T A exonic OR5H14 synonymous SNV OR5H14:NM_001005514:exon1:c.T741A:p.S247S 0.59 0.71 0.56 0.52 0.53 0.56 0.5143 0.6237 0.4967 0.4998 0.4998 0.5048 0.4977 0.5105 . . . 0.43 0.29 rs12639519 COSM3760270 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5094 0.6575 0.4913 0.4650 0.5134 0.4920 0.5023 0.4942 0.5077 0.5905 0.6993 0.5310 0.4698 0.5330 0.5476 0.5522 0.5403 het 820.96 61 3 97868970 . T A 820.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.194;DP=61;Dels=0.00;FS=5.273;HRun=0;HaplotypeScore=1.9916;MQ=56.83;MQ0=0;MQRankSum=0.630;QD=13.46;ReadPosRankSum=0.224;VQSLOD=3.3578;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,33:61:99:851,0,725 3 97888197 97888197 C T exonic OR5H15 synonymous SNV OR5H15:NM_001005515:exon1:c.C654T:p.Y218Y 0.63 0.85 0.58 0.51 0.54 0.57 0.5702 0.8109 0.5389 0.5148 0.5366 0.5486 0.5589 0.5703 0.63 0.8 0.54 0.66 0.4 rs7623031 COSM3760274 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5616 0.8138 0.5362 0.5318 0.5125 0.5368 0.5488 0.5483 0.5669 0.6229 0.8058 0.5419 0.4901 0.5138 0.5493 0.5570 0.5511 het 429.76 48 3 97888197 . C T 429.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.381;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=54.37;MQ0=0;MQRankSum=0.638;QD=8.95;ReadPosRankSum=-1.202;VQSLOD=2.7915;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,20:48:99:460,0,786 3 97983257 97983257 C G exonic OR5H6 synonymous SNV OR5H6:NM_001005479:exon1:c.C129G:p.L43L 0.71 0.89 0.63 0.62 0.69 0.64 0.6810 0.8647 0.5734 0.6345 0.6882 0.6835 0.6850 0.6519 0.74 0.86 0.68 0.7 0.59 rs2132894 COSM1179810 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6718 0.8681 0.5812 0.6789 0.6356 0.6888 0.6809 0.6626 0.6473 0.7296 0.8730 0.5865 0.6821 0.6317 0.7040 0.6744 0.6811 hom 7806.45 247 3 97983257 . C G 7806.45 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6647;MQ=56.85;MQ0=0;QD=31.61;VQSLOD=4.1205;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,247:247:99:7806,608,0 3 97983391 97983391 C T exonic OR5H6 nonsynonymous SNV OR5H6:NM_001005479:exon1:c.C263T:p.S88L 0.38 0.44 0.36 0.13 0.56 0.38 0.4632 0.4568 0.2685 0.1119 0.5147 0.5548 0.4714 0.3962 0.64 0.67 0.63 0.33 0.42 rs2173236 COSM4610753 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.042 0.416 D 0.001 0.067 B 0.001 0.040 B 0.267 0.152 N 1 0.090 N -0.255 0.038 N 7.44 0.004 T 0.42 0.034 N 0.037 0.017 -0.954 0.403 T 0.000 0.000 T . . . 0.048 0.098 3.063 0.732 0.099 0.003 0.016 N c -2.114 -2.175 0.000 0.029 0.554 0.246 0 -4.15 0.036 -0.189 0.095 -4.684 0.000 0.000 0.063 0.000 0.016 6.419 0.208 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4565 0.4597 0.2894 0.5178 0.1125 0.5124 0.5592 0.4822 0.3942 0.4915 0.4799 0.3369 0.5132 0.1097 0.5244 0.5383 0.5144 hom 6754.94 220 3 97983391 . C T 6754.94 Mask AC=2;AF=1.00;AN=2;DP=220;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4718;MQ=51.83;MQ0=1;QD=30.70;VQSLOD=3.4247;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:6754,551,0 3 97983488 97983496 TGTAACCAC - exonic OR5H6 nonframeshift deletion OR5H6:NM_001005479:exon1:c.360_368del:p.V124_T126del 0.32 0.21 0.34 0.13 0.56 0.38 0.4348 0.2422 0.2486 0.1094 0.5074 0.5424 0.4469 0.3935 0.43 0.24 0.53 . . rs74203917 COSM1163649 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4368 0.2400 0.2758 0.4850 0.1114 0.5105 0.5556 0.4679 0.3919 0.4227 0.2528 0.3289 0.4868 0.1099 0.5239 0.5317 0.4979 hom 7087.26 112 3 97983487 . TTGTAACCAC T 7087.26 Mask AC=2;AF=1.00;AN=2;DP=112;FS=0.000;HRun=0;HaplotypeScore=1076.2525;MQ=35.11;MQ0=0;QD=52.50;set=variant2 GT:AD:DP:GQ:PL 1/1:33,102:112:99:7087,268,0 3 97983561 97983561 G C exonic OR5H6 nonsynonymous SNV OR5H6:NM_001005479:exon1:c.G433C:p.A145P 0.7 0.87 0.63 0.62 0.69 0.63 0.6810 0.8583 0.5746 0.6404 0.6888 0.6835 0.6839 0.6511 0.74 0.85 0.68 0.7 0.59 rs9289564 COSM4406851 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.469 N 1.000 0.195 P -2.96 0.000 N 8.7 0.001 T 7.89 0.000 N 0.095 0.095 -0.969 0.373 T 0.000 0.000 T . . . -0.842 0.038 0.035 0.645 0.073 0.009 0.035 N c -1.629 -1.396 0.000 0.035 0.487 0.133 0 1.25 0.204 4.123 0.574 -0.050 0.123 0.998 0.411 0.833 0.348 5.903 0.181 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000249321.1 Testis 0.6714 0.8620 0.5813 0.6788 0.6377 0.6890 0.6808 0.6627 0.6466 0.7287 0.8687 0.5863 0.6821 0.6357 0.7045 0.6746 0.6807 hom 4318.97 150 3 97983561 . G C 4318.97 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4972;MQ=48.04;MQ0=1;QD=28.79;VQSLOD=2.9005;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4318,352,0 3 97983711 97983711 T C exonic OR5H6 nonsynonymous SNV OR5H6:NM_001005479:exon1:c.T583C:p.C195R 0.62 0.59 0.6 0.62 0.68 0.64 0.6560 0.6189 0.5572 0.6329 0.6878 0.6797 0.6767 0.6502 0.66 0.63 0.68 0.4 0.56 rs9853887 . . . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.991 0.782 D 0.000 0.513 D 0.000 0.524 P 3.9 0.962 H 0.02 0.623 T -11.84 0.996 D 0.209 0.258 -0.900 0.480 T 0.000 0.000 T . . . 4.041 0.543 23.7 0.987 0.446 0.977 0.764 D c 0.545 0.291 0.001 0.083 0.487 0.133 0 2.19 0.268 6.947 0.756 0.853 0.373 1.000 0.715 0.809 0.339 7.966 0.291 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000249321.1 Testis 0.6496 0.6190 0.5622 0.6520 0.6321 0.6866 0.6776 0.6468 0.6411 0.6578 0.6262 0.5673 0.67 0.6319 0.7022 0.6725 0.6732 hom 1873.25 64 3 97983711 . T C 1873.25 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.81;MQ0=0;QD=29.27;VQSLOD=7.3174;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1906,156,0 3 97983942 97983942 A G exonic OR5H6 nonsynonymous SNV OR5H6:NM_001005479:exon1:c.A814G:p.T272A 0.66 0.72 0.62 0.62 0.69 0.64 0.6657 0.7168 0.5667 0.6343 0.6890 0.6797 0.6766 0.6521 0.69 0.71 0.68 0.65 0.57 rs9853906 . . . . . . . . . . . . . 0.042 0.416 D 0.0 0.026 B 0.0 0.013 B 0.882 0.087 N 1 0.090 P 0.1 0.085 N 1.24 0.367 T 0.04 0.065 N 0.011 0.001 -0.991 0.323 T 0.000 0.000 T . . . 0.406 0.133 6.663 0.711 0.092 0.003 0.015 N c -1.661 -1.710 0.000 0.012 0.487 0.133 0 -0.036 0.132 -4.066 0.003 -2.832 0.002 0.000 0.063 0.000 0.016 6.289 0.201 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000249321.1 Testis 0.6587 0.7184 0.5736 0.6281 0.6353 0.6888 0.6799 0.6539 0.6473 0.6879 0.7297 0.5788 0.6424 0.6347 0.7041 0.6735 0.6742 hom 1390.89 48 3 97983942 . A G 1390.89 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=55.06;MQ0=0;QD=28.98;VQSLOD=6.7149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1424,117,0 3 97983981 97983981 G A exonic OR5H6 nonsynonymous SNV OR5H6:NM_001005479:exon1:c.G853A:p.D285N 0.32 0.22 0.34 0.13 0.56 0.38 0.4431 0.2472 0.2582 0.1118 0.5158 0.5522 0.4546 0.3951 0.45 0.25 0.56 0.26 0.45 rs9871143 COSM149433 1(stomach);1(prostate);2(large_intestine) . . . . . . . . . . . 0.238 0.178 T 0.097 0.240 B 0.16 0.331 B 0.094 0.202 N 1 0.090 P 0.145 0.088 N 8.67 0.001 T -2.84 0.598 D 0.033 0.013 -1.102 0.039 T 0.000 0.000 T . . . 0.858 0.176 9.818 0.972 0.322 0.021 0.062 N c -0.779 -0.866 0.000 0.012 0.487 0.133 0 2.19 0.268 0.602 0.237 -0.011 0.132 0.000 0.063 0.009 0.108 6.813 0.228 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4386 0.2415 0.2782 0.4859 0.1124 0.5117 0.5572 0.4694 0.3917 0.4267 0.2552 0.3294 0.4868 0.1110 0.5249 0.5375 0.5 hom 1965.58 62 3 97983981 . G A 1965.58 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.21;MQ0=0;QD=31.70;VQSLOD=8.2320;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1999,162,0 3 98073592 98073592 A - exonic OR5K4 frameshift deletion OR5K4:NM_001005517:exon1:c.895delA:p.I301Lfs*1 0.34 0.24 0.36 0.13 0.59 0.41 0.4741 0.2833 0.2815 0.1097 0.5279 0.5821 0.4809 0.4554 0.48 0.28 0.59 . . rs398102322 COSM1425967 3(skin);15(upper_aerodigestive_tract);3(large_intestine);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4717 0.2712 0.3155 0.5209 0.1093 0.5285 0.5861 0.5063 0.4366 0.4527 0.2775 0.3434 0.5436 0.1066 0.5410 0.5708 0.5266 hom 2960.79 123 3 98073591 . TA T 2960.79 Mask AC=2;AF=1.00;AN=2;DP=123;FS=0.000;HRun=7;HaplotypeScore=301.9575;MQ=60.06;MQ0=0;QD=24.07;set=variant2 GT:AD:DP:GQ:PL 1/1:22,101:123:99:3003,298,0 3 98110406 98110406 - A exonic OR5K3 frameshift insertion OR5K3:NM_001005516:exon1:c.898dupA:p.I302Nfs*21 0.33 0.21 0.37 0.13 0.6 0.4 0.4754 0.2746 0.2858 0.1006 0.5300 0.5881 0.4976 0.4463 0.48 0.26 0.59 0.022 . rs145803525 COSM4603200 14(upper_aerodigestive_tract);1(large_intestine);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4712 0.2569 0.3004 0.5291 0.0953 0.5220 0.5818 0.5093 0.4186 0.4501 0.2648 0.3493 0.57 0.0916 0.5423 0.5736 0.5245 hom 1398.17 44 3 98110406 . G GA 1398.17 Mask AC=2;AF=1.00;AN=2;DP=44;FS=0.000;HRun=7;HaplotypeScore=86.3922;MQ=60.49;MQ0=0;QD=31.78;set=variant2 GT:AD:DP:GQ:PL 1/1:4,40:44:99:1440,120,0 3 98541116 98541116 G A exonic DCBLD2 synonymous SNV DCBLD2:NM_080927:exon6:c.C786T:p.I262I 0.39 0.077 0.51 0.68 0.38 0.42 0.3859 0.1203 0.5477 0.6898 0.3832 0.3511 0.4014 0.4097 0.28 0.12 0.35 0.33 . rs828616 COSM3760290;COSM3760289 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3927 0.1160 0.5324 0.3524 0.6894 0.3687 0.3466 0.4003 0.4071 0.3021 0.1217 0.4916 0.3212 0.7063 0.3753 0.3319 0.3571 het 875.20 78 3 98541116 . G A 875.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.039;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5526;MQ=59.14;MQ0=0;MQRankSum=-0.332;QD=11.22;ReadPosRankSum=1.547;VQSLOD=5.5263;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,35:78:99:905,0,1179 3 100074068 100074068 C T exonic NIT2 stopgain NIT2:NM_020202:exon10:c.C787T:p.Q263X 0.0002 . . . 0.001 . . . . . . . . . . . . . . rs201668326 . . . . . . . . . . . . . . . . . . . . . . 0.000 0.843 D 1 0.810 D . . . . . . . . . . . . . . . . . . . . 13.782 0.993 43 0.996 0.768 0.979 0.778 D c 1.138 0.992 1.000 0.747 0.732 0.924 0 5.78 0.914 6.868 0.751 0.807 0.329 1.000 0.715 0.975 0.474 20.012 0.974 Carbon-nitrogen hydrolase . . . . . . . . . . . . . . . . . . . het 775.54 84 3 100074068 . C T 775.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.260;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8284;MQ=58.30;MQ0=0;MQRankSum=-0.045;QD=9.23;ReadPosRankSum=0.290;VQSLOD=3.9856;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,35:84:99:806,0,1279 3 100354524 100354524 A G exonic ADGRG7 nonsynonymous SNV ADGRG7:NM_032787:exon5:c.A451G:p.K151E 0.15 0.11 0.18 0.016 0.36 0.12 0.2561 0.1582 0.1387 0.0109 0.3071 0.3420 0.2605 0.1598 0.28 0.17 0.34 0.18 0.4 rs1144122 . . . . . . . . . . . . . 0.952 0.021 T 0.0 0.026 B 0.0 0.013 B 0.094 0.025 N 1 0.090 P 0 0.065 N 1.17 0.379 T 0.83 0.018 N 0.041 0.021 -1.002 0.292 T 0.000 0.000 T . . . -1.869 0.010 0.002 0.562 0.054 0.009 0.035 N c -1.552 -1.516 0.025 0.136 0.487 0.133 0 -1.43 0.084 -1.955 0.016 -0.711 0.037 0.000 0.063 0.002 0.062 5.643 0.167 . ENSG00000114354.8 Whole_Blood 0.2553 0.1572 0.1499 0.3688 0.0103 0.3010 0.3437 0.2781 0.1598 0.2524 0.1554 0.1933 0.3633 0.0105 0.3017 0.3237 0.2643 het 1538.72 107 3 100354524 . A G 1538.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.463;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.15;MQ0=0;MQRankSum=-0.521;QD=14.38;ReadPosRankSum=1.458;VQSLOD=6.5551;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,57:107:99:1569,0,1291 3 100467018 100467018 T C exonic TFG synonymous SNV TFG:NM_001007565:exon8:c.T846C:p.P282P,TFG:NM_001195478:exon8:c.T846C:p.P282P,TFG:NM_001195479:exon8:c.T834C:p.P278P,TFG:NM_006070:exon8:c.T846C:p.P282P 0.71 0.65 0.81 0.65 0.64 0.88 0.6993 0.6584 0.8414 0.6366 0.6720 0.6576 0.7049 0.8358 0.66 0.65 0.66 0.6 0.61 rs11353 COSM4157088 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . -1.026 0.216 T 0.000 0.000 T . . . -0.585 0.051 0.136 0.823 0.137 0.296 0.236 N c -0.019 0.050 0.999 0.373 0.707 0.730 0 4.77 0.603 1.077 0.301 0.066 0.173 1.000 0.715 0.997 0.653 5.793 0.175 . ENSG00000206535.3|ENSG00000114354.8|ENSG00000114354.8 Lung|Testis|Whole_Blood 0.7015 0.6555 0.8290 0.6164 0.6289 0.6709 0.6573 0.6919 0.8358 0.6676 0.6560 0.7792 0.6192 0.5946 0.6703 0.6739 0.7016 het 2404.11 186 3 100467018 . T C 2404.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.271;DP=186;Dels=0.00;FS=9.197;HRun=2;HaplotypeScore=6.9106;MQ=58.41;MQ0=0;MQRankSum=-0.698;QD=12.93;ReadPosRankSum=-0.440;VQSLOD=3.8607;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:95,89:186:99:2434,0,2363 3 100473505 100473505 C T exonic ABI3BP synonymous SNV ABI3BP:NM_015429:exon31:c.G2748A:p.P916P,ABI3BP:NM_001349332:exon32:c.G2823A:p.P941P,ABI3BP:NM_001349331:exon39:c.G3210A:p.P1070P,ABI3BP:NM_001349330:exon58:c.G4479A:p.P1493P,ABI3BP:NM_001349329:exon61:c.G4689A:p.P1563P 0.29 0.12 0.42 0.12 0.37 0.53 0.4401 0.1902 0.4820 0.2288 0.4283 0.4715 0.4019 0.5103 0.32 0.15 0.39 0.24 . rs10936352 COSM4157089;COSM4157091;COSM4157090 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3500 0.1278 0.3432 0.3535 0.1208 0.3570 0.3816 0.3631 0.4803 0.3072 0.1475 0.3337 0.3113 0.0936 0.3674 0.4025 0.3865 het 63.41 15 3 100473505 . C T 63.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.306;DP=15;Dels=0.00;FS=2.158;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.919;QD=4.23;ReadPosRankSum=-1.653;VQSLOD=3.1608;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,5:15:93.40:93,0,272 3 100617680 100617680 C T exonic ABI3BP synonymous SNV ABI3BP:NM_001349329:exon4:c.G408A:p.S136S,ABI3BP:NM_001349330:exon4:c.G408A:p.S136S,ABI3BP:NM_001349331:exon4:c.G408A:p.S136S,ABI3BP:NM_001349332:exon4:c.G408A:p.S136S,ABI3BP:NM_015429:exon4:c.G408A:p.S136S 0.73 0.75 0.67 0.93 0.52 0.73 0.6168 0.7096 0.7688 0.9192 0.6384 0.5103 0.6225 0.7188 0.56 0.7 0.49 0.77 . rs2245370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6178 0.7087 0.7530 0.4222 0.9143 0.6417 0.5057 0.5906 0.7173 0.6073 0.6915 0.7160 0.4238 0.9031 0.6352 0.5176 0.6069 het 1852.26 200 3 100617680 . C T 1852.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.065;DP=200;Dels=0.00;FS=12.871;HRun=0;HaplotypeScore=6.4568;MQ=59.40;MQ0=0;MQRankSum=0.055;QD=9.26;ReadPosRankSum=-0.843;VQSLOD=3.3792;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:123,75:200:99:1882,0,3291 3 100949842 100949842 G A exonic IMPG2 synonymous SNV IMPG2:NM_016247:exon16:c.C3381T:p.L1127L 0.81 0.83 0.82 0.82 0.81 0.78 0.7911 0.8252 0.8201 0.8164 0.8332 0.7820 0.7731 0.7567 0.8 0.82 0.78 0.78 0.76 rs348867 . . Benign Retinitis_Pigmentosa\x2c_Recessive RCV000388657.1 MedGen CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7909 0.8237 0.8254 0.6872 0.8139 0.8345 0.7843 0.7878 0.7506 0.8094 0.8188 0.8289 0.6788 0.8236 0.8434 0.7970 0.7941 hom 7120.35 229 3 100949842 . G A 7120.35 Mask AC=2;AF=1.00;AN=2;DP=229;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2659;MQ=59.43;MQ0=0;QD=31.09;VQSLOD=8.6649;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,227:229:99:7119,578,0 3 101283792 101283792 C G exonic TRMT10C nonsynonymous SNV TRMT10C:NM_017819:exon2:c.C167G:p.P56R 0.14 0.1 0.11 0.12 0.15 0.21 0.1500 0.1094 0.0876 0.1359 0.1346 0.1589 0.1604 0.1947 0.14 0.1 0.16 0.11 0.12 rs3762735 . . . . . . . . . . . . . 0.224 0.187 T 0.001 0.067 B 0.002 0.063 B 0.888 0.087 N 1 0.090 P 0.55 0.145 N 2.56 0.223 T -0.58 0.174 N 0.041 0.047 -1.066 0.103 T 0.000 0.001 T . . . 0.217 0.115 4.862 0.938 0.232 0.306 0.239 N c -0.562 -0.493 1.000 0.747 0.732 0.924 0 5.16 0.704 0.964 0.287 0.935 0.490 0.000 0.063 0.022 0.137 9.818 0.398 . ENSG00000144815.10|ENSG00000144815.10 Cells_Transformed_fibroblasts|Nerve_Tibial 0.1480 0.1057 0.0926 0.1592 0.1323 0.1315 0.1610 0.1617 0.1967 0.1361 0.1155 0.0990 0.1788 0.1462 0.1363 0.1476 0.1442 hom 4001.03 135 3 101283792 . C G 4001.03 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=59.38;MQ0=0;QD=29.64;VQSLOD=7.9624;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4000,331,0 3 101484335 101484335 G A exonic CEP97 synonymous SNV CEP97:NM_001303401:exon11:c.G2361A:p.Q787Q,CEP97:NM_024548:exon11:c.G2538A:p.Q846Q 0.91 0.88 0.93 0.99 0.9 0.83 0.9110 0.8749 0.9478 0.9892 0.9227 0.9149 0.8830 0.8473 0.9 0.88 0.91 0.92 0.92 rs2625282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9126 0.8698 0.9473 0.8982 0.9882 0.9254 0.9134 0.9065 0.8470 0.9085 0.8660 0.9415 0.8974 0.9840 0.9257 0.9193 0.9102 hom 5583.75 173 3 101484335 . G A 5583.75 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7550;MQ=59.25;MQ0=0;QD=32.28;VQSLOD=9.0085;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5583,427,0 3 101576175 101576175 T C exonic NFKBIZ synonymous SNV NFKBIZ:NM_031419:exon11:c.T1975C:p.L659L,NFKBIZ:NM_001005474:exon12:c.T1675C:p.L559L 0.53 0.5 0.68 0.44 0.63 0.48 0.5948 0.5150 0.7585 0.4757 0.5316 0.6244 0.5551 0.5006 0.59 0.52 0.63 0.56 0.57 rs14134 COSM4157106 1(breast);1(haematopoietic_and_lymphoid_tissue);18(soft_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6016 0.5208 0.7507 0.6121 0.4754 0.5249 0.6276 0.6082 0.5068 0.5648 0.5227 0.7315 0.5993 0.4684 0.5209 0.6029 0.5184 hom 5495.17 170 3 101576175 . T C 5495.17 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=57.23;MQ0=0;QD=32.32;VQSLOD=7.7328;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:5495,427,0 3 102157365 102157365 A T exonic ZPLD1 nonsynonymous SNV ZPLD1:NM_175056:exon2:c.A82T:p.I28F,ZPLD1:NM_001329788:exon3:c.A34T:p.I12F 0.097 0.09 0.16 0.036 0.14 0.083 0.1333 0.0992 0.1566 0.0321 0.1178 0.1575 0.1344 0.1001 0.13 0.092 0.15 0.043 0.19 rs6784362 COSM3759567 1(large_intestine) . . . . . . . . . . . 0.332 0.178 T 0.0 0.026 B 0.0 0.013 B 0.004 0.343 N 0.375 0.339 P 0.41 0.124 N -1.4 0.805 T -0.77 0.214 N 0.067 0.075 -1.097 0.044 T 0.001 0.003 T . . . 1.918 0.291 15.70 0.944 0.242 0.177 0.198 N c -0.720 -0.557 0.000 0.053 0.487 0.133 0 3.81 0.429 1.309 0.329 1.028 0.649 0.003 0.159 0.993 0.574 6.171 0.195 . . . 0.1333 0.0993 0.1514 0.1548 0.0347 0.1171 0.1580 0.1491 0.0983 0.1328 0.0969 0.1352 0.1267 0.0370 0.1258 0.1654 0.1365 hom 1631.34 51 3 102157365 . A T 1631.34 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;QD=31.99;VQSLOD=9.3427;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1664,132,0 3 102157417 102157417 A G exonic ZPLD1 nonsynonymous SNV ZPLD1:NM_175056:exon2:c.A134G:p.N45S,ZPLD1:NM_001329788:exon3:c.A86G:p.N29S 0.097 0.09 0.16 0.036 0.14 0.082 0.1336 0.0994 0.1584 0.0321 0.1182 0.1576 0.1355 0.1001 0.13 0.092 0.15 0.043 0.19 rs6784389 COSM3759568 1(NS);1(large_intestine) . . . . . . . . . . . 0.074 0.346 T 0.047 0.206 B 0.015 0.162 B 0.000 0.843 N 0.000 0.503 P 1.325 0.333 L -1.43 0.809 T -1.09 0.291 N 0.001 0.000 -1.091 0.054 T 0.002 0.005 T . . . 0.783 0.169 9.361 0.807 0.129 0.858 0.447 D c -0.786 -0.622 0.000 0.029 0.487 0.133 0 1.48 0.218 2.324 0.432 -0.316 0.077 1.000 0.715 0.996 0.625 5.820 0.177 Zona pellucida domain . . 0.1334 0.0990 0.1526 0.1545 0.0346 0.1171 0.1578 0.1497 0.0983 0.1329 0.0971 0.1337 0.1291 0.0371 0.1266 0.1653 0.1365 hom 1461.15 47 3 102157417 . A G 1461.15 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=31.09;VQSLOD=9.3064;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1494,114,0 3 102181131 102181131 A G exonic ZPLD1 nonsynonymous SNV ZPLD1:NM_175056:exon6:c.A637G:p.T213A,ZPLD1:NM_001329788:exon7:c.A589G:p.T197A 0.096 0.089 0.16 0.036 0.14 0.081 0.1343 0.0997 0.1629 0.0318 0.1180 0.1576 0.1350 0.1014 0.13 0.092 0.15 0.043 0.16 rs12054046 COSM3759569 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.162 0.235 T 0.037 0.195 B 0.022 0.195 B 0.000 0.629 D 0.002 0.444 P 0.62 0.158 N -1.56 0.818 D -0.89 0.240 N 0.097 0.189 -1.036 0.184 T 0.002 0.006 T . . . 1.877 0.286 15.45 0.975 0.336 0.815 0.406 D c -0.323 -0.135 0.000 0.060 0.487 0.133 0 4.09 0.469 2.875 0.479 0.921 0.432 1.000 0.715 0.988 0.529 11.318 0.485 Zona pellucida domain . . 0.1341 0.0989 0.1584 0.1550 0.0351 0.1173 0.1576 0.1491 0.0982 0.1331 0.0973 0.1355 0.1291 0.0360 0.1261 0.1657 0.1367 hom 2149.60 67 3 102181131 . A G 2149.60 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.88;MQ0=0;QD=32.08;VQSLOD=8.6553;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2183,169,0 3 105260518 105260518 G A exonic ALCAM synonymous SNV ALCAM:NM_001243280:exon8:c.G900A:p.L300L,ALCAM:NM_001243281:exon8:c.G900A:p.L300L,ALCAM:NM_001627:exon8:c.G900A:p.L300L 0.24 0.3 0.31 0.15 0.24 0.18 0.2197 0.2883 0.2993 0.1631 0.1506 0.2193 0.2185 0.1805 0.24 0.29 0.22 0.22 0.25 rs579565 COSM3759580 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2198 0.2862 0.3057 0.2333 0.1615 0.1500 0.2172 0.2356 0.1794 0.2232 0.2807 0.2986 0.2351 0.1554 0.1518 0.2119 0.1796 het 535.19 42 3 105260518 . G A 535.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.445;DP=42;Dels=0.00;FS=5.020;HRun=1;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;MQRankSum=1.196;QD=12.74;ReadPosRankSum=-1.952;VQSLOD=4.7227;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,22:42:99:565,0,599 3 105260596 105260596 T C exonic ALCAM synonymous SNV ALCAM:NM_001243280:exon8:c.T978C:p.A326A,ALCAM:NM_001243281:exon8:c.T978C:p.A326A,ALCAM:NM_001627:exon8:c.T978C:p.A326A 0.96 0.86 0.99 1. 1. 1. 0.9890 0.8794 0.9944 1 1 0.9998 0.9956 0.9999 0.96 0.89 1. 0.91 0.99 rs599278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9914 0.8799 0.9937 0.9994 1 1 0.9996 0.9963 0.9998 0.9659 0.8816 0.9869 1 1 1 0.9997 0.9949 hom 1962.86 63 3 105260596 . T C 1962.86 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9952;MQ=58.43;MQ0=0;QD=31.16;VQSLOD=8.9364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1996,153,0 3 105389153 105389153 A G exonic CBLB synonymous SNV CBLB:NM_001321816:exon15:c.T1554C:p.P518P,CBLB:NM_001321797:exon16:c.T2334C:p.P778P,CBLB:NM_001321798:exon16:c.T2334C:p.P778P,CBLB:NM_001321799:exon16:c.T2334C:p.P778P,CBLB:NM_001321811:exon16:c.T1686C:p.P562P,CBLB:NM_001321789:exon17:c.T2550C:p.P850P,CBLB:NM_001321790:exon17:c.T2547C:p.P849P,CBLB:NM_001321791:exon17:c.T2481C:p.P827P,CBLB:NM_001321793:exon17:c.T2481C:p.P827P,CBLB:NM_001321794:exon17:c.T2466C:p.P822P,CBLB:NM_001321795:exon17:c.T2466C:p.P822P,CBLB:NM_001321796:exon17:c.T2466C:p.P822P,CBLB:NM_001321806:exon17:c.T1833C:p.P611P,CBLB:NM_001321786:exon18:c.T2697C:p.P899P,CBLB:NM_001321788:exon18:c.T2613C:p.P871P,CBLB:NM_001321808:exon18:c.T1701C:p.P567P,CBLB:NM_001321813:exon18:c.T1686C:p.P562P,CBLB:NM_170662:exon18:c.T2613C:p.P871P,CBLB:NM_001321807:exon19:c.T1833C:p.P611P,CBLB:NM_001321820:exon19:c.T1293C:p.P431P,CBLB:NM_001321822:exon19:c.T1284C:p.P428P 0.21 0.22 0.3 0.19 0.23 0.13 0.2191 0.2202 0.3322 0.2163 0.2649 0.2128 0.2227 0.1477 0.21 0.21 0.21 0.32 0.17 rs11713094 COSM4419181;COSM4419180 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2233 0.2215 0.3266 0.1452 0.2144 0.2724 0.2138 0.2170 0.1415 0.2309 0.2264 0.2716 0.1556 0.2233 0.2613 0.2271 0.2194 het 733 85 3 105389153 . A G 733 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.288;DP=85;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.4450;MQ=59.73;MQ0=0;MQRankSum=0.225;QD=8.62;ReadPosRankSum=0.280;VQSLOD=5.5956;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,30:85:99:763,0,1608 3 105422844 105422844 C T exonic CBLB synonymous SNV CBLB:NM_001321796:exon10:c.G1434A:p.T478T,CBLB:NM_001321799:exon10:c.G1434A:p.T478T,CBLB:NM_001321806:exon10:c.G801A:p.T267T,CBLB:NM_001321811:exon10:c.G801A:p.T267T,CBLB:NM_001321816:exon10:c.G801A:p.T267T,CBLB:NM_001321786:exon11:c.G1665A:p.T555T,CBLB:NM_001321788:exon11:c.G1581A:p.T527T,CBLB:NM_001321789:exon11:c.G1665A:p.T555T,CBLB:NM_001321790:exon11:c.G1647A:p.T549T,CBLB:NM_001321791:exon11:c.G1581A:p.T527T,CBLB:NM_001321793:exon11:c.G1581A:p.T527T,CBLB:NM_001321794:exon11:c.G1581A:p.T527T,CBLB:NM_001321795:exon11:c.G1581A:p.T527T,CBLB:NM_001321797:exon11:c.G1581A:p.T527T,CBLB:NM_001321798:exon11:c.G1581A:p.T527T,CBLB:NM_170662:exon11:c.G1581A:p.T527T,CBLB:NM_001321807:exon12:c.G801A:p.T267T,CBLB:NM_001321808:exon12:c.G801A:p.T267T,CBLB:NM_001321813:exon12:c.G801A:p.T267T,CBLB:NM_001321822:exon12:c.G252A:p.T84T,CBLB:NM_001321820:exon13:c.G393A:p.T131T 0.75 0.73 0.68 0.78 0.72 0.83 0.7307 0.7404 0.6584 0.7642 0.6564 0.7241 0.7291 0.8139 0.74 0.74 0.73 0.63 0.71 rs2305037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7267 0.7391 0.6590 0.8336 0.7615 0.6429 0.7216 0.7362 0.8184 0.7164 0.7332 0.7053 0.83 0.7559 0.6562 0.7145 0.7209 het 1014.88 68 3 105422844 . C T 1014.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.204;DP=68;Dels=0.00;FS=1.298;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=-0.763;QD=14.92;ReadPosRankSum=0.209;VQSLOD=6.4066;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,37:68:99:1045,0,779 3 105438957 105438957 T G exonic CBLB synonymous SNV CBLB:NM_001321796:exon9:c.A1194C:p.L398L,CBLB:NM_001321799:exon9:c.A1194C:p.L398L,CBLB:NM_001321806:exon9:c.A561C:p.L187L,CBLB:NM_001321811:exon9:c.A561C:p.L187L,CBLB:NM_001321816:exon9:c.A561C:p.L187L,CBLB:NM_001321786:exon10:c.A1425C:p.L475L,CBLB:NM_001321788:exon10:c.A1341C:p.L447L,CBLB:NM_001321789:exon10:c.A1425C:p.L475L,CBLB:NM_001321790:exon10:c.A1407C:p.L469L,CBLB:NM_001321791:exon10:c.A1341C:p.L447L,CBLB:NM_001321793:exon10:c.A1341C:p.L447L,CBLB:NM_001321794:exon10:c.A1341C:p.L447L,CBLB:NM_001321795:exon10:c.A1341C:p.L447L,CBLB:NM_001321797:exon10:c.A1341C:p.L447L,CBLB:NM_001321798:exon10:c.A1341C:p.L447L,CBLB:NM_170662:exon10:c.A1341C:p.L447L,CBLB:NM_001321807:exon11:c.A561C:p.L187L,CBLB:NM_001321808:exon11:c.A561C:p.L187L,CBLB:NM_001321813:exon11:c.A561C:p.L187L,CBLB:NM_001321822:exon11:c.A12C:p.L4L,CBLB:NM_001321820:exon12:c.A153C:p.L51L 0.21 0.19 0.3 0.22 0.24 0.13 0.2205 0.1888 0.3305 0.2338 0.2666 0.2178 0.2228 0.1492 0.2 0.18 0.21 0.3 0.19 rs2305036 COSM3759582;COSM3759581 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2263 0.1914 0.3273 0.1449 0.2360 0.2756 0.2199 0.2224 0.1429 0.2260 0.1940 0.2757 0.1556 0.2382 0.2650 0.2330 0.2219 het 2127.33 159 3 105438957 . T G 2127.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.224;DP=159;Dels=0.00;FS=2.849;HRun=0;HaplotypeScore=7.9035;MQ=58.97;MQ0=0;MQRankSum=0.975;QD=13.38;ReadPosRankSum=0.129;VQSLOD=4.8605;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,83:159:99:2157,0,1908 3 105439026 105439026 G A exonic CBLB synonymous SNV CBLB:NM_001321796:exon9:c.C1125T:p.D375D,CBLB:NM_001321799:exon9:c.C1125T:p.D375D,CBLB:NM_001321806:exon9:c.C492T:p.D164D,CBLB:NM_001321811:exon9:c.C492T:p.D164D,CBLB:NM_001321816:exon9:c.C492T:p.D164D,CBLB:NM_001321786:exon10:c.C1356T:p.D452D,CBLB:NM_001321788:exon10:c.C1272T:p.D424D,CBLB:NM_001321789:exon10:c.C1356T:p.D452D,CBLB:NM_001321790:exon10:c.C1338T:p.D446D,CBLB:NM_001321791:exon10:c.C1272T:p.D424D,CBLB:NM_001321793:exon10:c.C1272T:p.D424D,CBLB:NM_001321794:exon10:c.C1272T:p.D424D,CBLB:NM_001321795:exon10:c.C1272T:p.D424D,CBLB:NM_001321797:exon10:c.C1272T:p.D424D,CBLB:NM_001321798:exon10:c.C1272T:p.D424D,CBLB:NM_170662:exon10:c.C1272T:p.D424D,CBLB:NM_001321807:exon11:c.C492T:p.D164D,CBLB:NM_001321808:exon11:c.C492T:p.D164D,CBLB:NM_001321813:exon11:c.C492T:p.D164D,CBLB:NM_001321820:exon12:c.C84T:p.D28D 0.21 0.19 0.3 0.22 0.24 0.13 0.2204 0.1883 0.3289 0.2354 0.2639 0.2176 0.2249 0.1506 0.2 0.18 0.21 0.32 0.19 rs2305035 COSM3759583;COSM3759584 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2252 0.1893 0.3259 0.1447 0.2350 0.2737 0.2190 0.2220 0.1421 0.2249 0.1921 0.2746 0.1567 0.2351 0.2637 0.2328 0.2200 het 1106.75 94 3 105439026 . G A 1106.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.965;DP=94;Dels=0.00;FS=6.573;HRun=0;HaplotypeScore=2.9745;MQ=59.51;MQ0=0;MQRankSum=0.903;QD=11.77;ReadPosRankSum=0.061;VQSLOD=5.1625;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,43:94:99:1137,0,1377 3 107097346 107097346 C A exonic CCDC54 synonymous SNV CCDC54:NM_032600:exon1:c.C912A:p.T304T 0.069 0.02 0.069 0.036 0.13 0.11 0.0865 0.0355 0.0480 0.0332 0.0552 0.1025 0.0885 0.1191 0.085 0.036 0.11 0.12 0.19 rs3811061 COSM3759585 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0867 0.0353 0.0555 0.1438 0.0297 0.0552 0.1035 0.0928 0.1211 0.0664 0.0343 0.0668 0.1424 0.0272 0.0519 0.0909 0.0713 hom 1846.84 62 3 107097346 . C A 1846.84 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=29.79;VQSLOD=9.2452;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1880,144,0 3 108072298 108072298 T C exonic HHLA2 nonsynonymous SNV HHLA2:NM_001282556:exon4:c.T89C:p.I30T,HHLA2:NM_001282557:exon4:c.T89C:p.I30T,HHLA2:NM_007072:exon4:c.T89C:p.I30T,HHLA2:NM_001282558:exon5:c.T89C:p.I30T 0.59 0.79 0.6 0.21 0.68 0.62 0.6942 0.7841 0.6870 0.3421 0.6678 0.7243 0.6592 0.6529 0.7 0.77 0.68 0.53 . rs6779254 COSM4002362;COSM4002363 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.918 0.279 T 0.0 0.026 B 0.0 0.013 B 0.066 0.022 N 1 0.090 P -0.69 0.019 N 2.53 0.433 T -0.78 0.245 N 0.046 0.375 -0.965 0.383 T 0.000 0.000 T . . . -2.732 0.002 0.001 0.228 0.009 0.008 0.033 N c -1.902 -1.946 0.082 0.159 0.554 0.246 0 -7.67 0.011 -2.276 0.012 -1.831 0.006 0.000 0.063 0.000 0.016 1.600 0.025 . . . 0.6289 0.7688 0.6078 0.6924 0.2052 0.6150 0.6839 0.6540 0.6171 0.6697 0.7727 0.6181 0.6921 0.2034 0.6073 0.6782 0.6489 hom 764.51 25 3 108072298 . T C 764.51 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.58;VQSLOD=14.1104;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:60.20:798,60,0 3 108081247 108081247 G A exonic HHLA2 synonymous SNV HHLA2:NM_001282556:exon7:c.G1062A:p.A354A,HHLA2:NM_001282557:exon7:c.G1062A:p.A354A,HHLA2:NM_007072:exon7:c.G1062A:p.A354A,HHLA2:NM_001282558:exon8:c.G1062A:p.A354A,HHLA2:NM_001282559:exon8:c.G870A:p.A290A 0.15 0.23 0.17 0.054 0.19 0.11 0.1863 0.2198 0.2208 0.0449 0.1533 0.2077 0.1762 0.1402 0.2 0.2 0.2 0.22 . rs16854512 COSM3759592;COSM3759591 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1797 0.2079 0.2166 0.2234 0.0434 0.1517 0.1996 0.1929 0.1343 0.1814 0.2128 0.1942 0.2351 0.0507 0.1458 0.1848 0.1667 het 305.44 24 3 108081247 . G A 305.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.722;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.99;MQ0=0;MQRankSum=1.819;QD=12.73;ReadPosRankSum=-1.992;VQSLOD=5.5569;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,12:24:99:335,0,285 3 108147728 108147728 T C exonic MYH15 nonsynonymous SNV MYH15:NM_014981:exon28:c.A3373G:p.T1125A 0.17 0.12 0.2 0.012 0.31 0.22 0.2405 0.1554 0.1327 0.0067 0.2856 0.3050 0.2617 0.2081 0.24 0.14 0.29 0.087 0.24 rs3900940 COSM3759594 4(soft_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.009 0.133 B . . . 0.342 0.330 P -0.825 0.015 N -0.89 0.748 T 1.44 0.008 N 0.008 0.000 -1.055 0.130 T 0.000 0.000 T . . . -1.376 0.020 0.004 0.115 0.002 0.781 0.382 D c -1.182 -1.067 0.048 0.148 0.487 0.133 0 -1.67 0.078 1.708 0.373 -0.220 0.097 1.000 0.715 0.002 0.062 5.557 0.163 Myosin tail ENSG00000198919.8 Whole_Blood 0.2397 0.1496 0.1532 0.2374 0.0070 0.2842 0.3088 0.2688 0.2074 0.2383 0.1547 0.1790 0.2417 0.0074 0.2888 0.3025 0.2536 het 1364.60 96 3 108147728 . T C 1364.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.772;DP=96;Dels=0.00;FS=2.010;HRun=1;HaplotypeScore=1.8824;MQ=58.69;MQ0=0;MQRankSum=0.440;QD=14.21;ReadPosRankSum=0.227;VQSLOD=6.3936;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,49:96:99:1395,0,1200 3 108188993 108188993 G A exonic MYH15 nonsynonymous SNV MYH15:NM_014981:exon15:c.C1510T:p.H504Y 0.52 0.69 0.57 0.022 0.74 0.52 0.6158 0.6818 0.4017 0.0098 0.7091 0.7274 0.6356 0.5509 0.71 0.69 0.72 0.54 0.7 rs9868484 . . . . . . . . . . . . . 0.0 0.912 D 0.995 0.657 D 0.968 0.701 D . . . 0.029 0.388 P 1.685 0.434 L -0.74 0.732 T -4.59 0.789 D 0.239 0.293 -0.919 0.457 T 0.000 0.000 T . . . 2.114 0.315 16.94 0.996 0.765 0.968 0.709 D c 0.475 0.309 1.000 0.747 0.554 0.246 0 4.37 0.517 5.760 0.682 1.048 0.713 1.000 0.715 0.363 0.248 11.793 0.512 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.6058 0.6742 0.4096 0.7049 0.0103 0.7137 0.7290 0.6526 0.5492 0.6665 0.6851 0.4545 0.7185 0.0099 0.7069 0.7279 0.6667 hom 2105.41 69 3 108188993 . G A 2105.41 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=4.8304;MQ=58.97;MQ0=0;QD=30.08;VQSLOD=7.5822;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,68:69:99:2138,178,0 3 108189627 108189627 C T exonic MYH15 nonsynonymous SNV MYH15:NM_014981:exon14:c.G1361A:p.R454Q 0.1 0.0098 0.19 . 0.29 0.069 0.2070 0.0549 0.1163 0.0007 0.2841 0.2914 0.2112 0.0955 0.22 0.056 0.3 0.16 0.29 rs4299484 COSM1130381 1(pancreas);1(prostate) . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.999 0.916 D . . . 1 0.090 P 2.045 0.562 M -2.38 0.883 D -3.35 0.664 D 0.238 0.291 -1.239 0.000 T 0.000 0.000 T . . . 6.584 0.905 31 0.999 0.998 0.158 0.189 N c 0.158 -0.047 1.000 0.747 0.554 0.246 0 2.58 0.299 0.272 0.183 0.845 0.345 0.000 0.063 0.287 0.235 7.019 0.239 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000198919.8 Whole_Blood 0.2106 0.0506 0.1303 0.2879 0.0006 0.2909 0.2961 0.2470 0.0968 0.2002 0.0546 0.1229 0.2682 0.0012 0.2755 0.2897 0.2301 het 1264.91 76 3 108189627 . C T 1264.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.304;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7719;MQ=58.78;MQ0=0;MQRankSum=-0.535;QD=16.64;ReadPosRankSum=-1.390;VQSLOD=4.3729;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:29,47:76:99:1295,0,708 3 108373022 108373022 G A exonic DZIP3 synonymous SNV DZIP3:NM_014648:exon19:c.G2064A:p.L688L 0.23 0.18 0.31 0.016 0.34 0.33 0.3100 0.2000 0.2279 0.0197 0.3083 0.3666 0.3073 0.3604 0.31 0.2 0.37 0.27 0.39 rs2969901 COSM3759597 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3092 0.1955 0.2323 0.4299 0.0202 0.3119 0.3667 0.3237 0.3601 0.2883 0.2021 0.2470 0.4272 0.0179 0.3002 0.3620 0.3282 het 1521.18 139 3 108373022 . G A 1521.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.798;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9191;MQ=58.79;MQ0=0;MQRankSum=1.163;QD=10.94;ReadPosRankSum=-0.802;VQSLOD=5.9536;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,60:139:99:1551,0,2132 3 108403086 108403086 T C exonic DZIP3 synonymous SNV DZIP3:NM_014648:exon27:c.T2907C:p.P969P 1. 0.99 1. 1. 1. 1. 0.9991 0.9914 0.9998 1 1 1 1 0.9989 1. 0.99 1. 0.97 1. rs9856097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9892 0.9995 1 1 1 1.0000 0.9998 0.9992 0.9973 0.9904 0.9988 1 1 1 1 1 hom 4979.59 161 3 108403086 . T C 4979.59 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.4617;MQ=59.19;MQ0=0;QD=30.93;VQSLOD=8.4164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:161:99:4979,373,0 3 108475993 108475993 - GGGGATTA exonic RETNLB stopgain RETNLB:NM_032579:exon1:c.39_40insTAATCCCC:p.L14fs*0 0.092 0.089 0.12 . 0.19 0.064 0.1355 0.1024 0.0797 0.0002 0.1474 0.1815 0.1336 0.0760 0.16 0.099 0.19 0.043 . rs5851607 COSM1318744 1(haematopoietic_and_lymphoid_tissue);2(pancreas);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1390 0.1038 0.0954 0.1708 0.0003 0.1543 0.1892 0.1573 0.0757 0.1385 0.1054 0.0955 0.1589 0.0012 0.1408 0.1739 0.1418 het 1559.71 54 3 108475993 . G GGGGGATTA 1559.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.523;DP=54;FS=0.000;HRun=0;HaplotypeScore=323.0535;MQ=53.02;MQ0=0;MQRankSum=-4.572;QD=28.88;ReadPosRankSum=1.042;set=variant2 GT:AD:DP:GQ:PL 0/1:42,12:54:99:1599,0,2278 3 108639423 108639423 C T exonic GUCA1C nonsynonymous SNV GUCA1C:NM_005459:exon2:c.G214A:p.V72I 0.62 0.71 0.63 0.38 0.72 0.65 0.6688 0.7059 0.5895 0.3397 0.7332 0.7154 0.6506 0.6552 0.7 0.71 0.7 0.63 0.48 rs2715687 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.191 P -1.96 0.002 N -1.0 0.760 T 0.79 0.019 N 0.042 0.028 -0.918 0.458 T 0.000 0.000 T . . . 0.846 0.175 9.744 0.128 0.002 0.028 0.075 N c -0.887 -0.615 0.001 0.075 0.487 0.133 0 4.0 0.455 4.445 0.595 0.013 0.140 1.000 0.715 0.982 0.498 8.214 0.305 EF-Hand 1\x2c calcium-binding site|EF-hand domain|EF-hand domain pair ENSG00000138472.6 Pancreas 0.6619 0.7003 0.5868 0.8106 0.3251 0.7292 0.7046 0.6979 0.6549 0.6918 0.6974 0.6077 0.7715 0.3373 0.7318 0.7181 0.7270 het 358.34 35 3 108639423 . C T 358.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.255;DP=35;Dels=0.00;FS=4.212;HRun=0;HaplotypeScore=0.0000;MQ=57.89;MQ0=0;MQRankSum=-0.579;QD=10.24;ReadPosRankSum=-1.540;VQSLOD=4.4492;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,16:35:99:388,0,575 3 108677821 108677821 C A exonic MORC1 synonymous SNV MORC1:NM_014429:exon28:c.G2946T:p.S982S 0.31 0.39 0.24 0.11 0.37 0.37 0.3310 0.4075 0.1709 0.0885 0.2863 0.3701 0.3160 0.3830 0.37 0.4 0.35 0.42 . rs2197737 COSM4002369 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3241 0.3972 0.1723 0.4822 0.0836 0.2757 0.3543 0.3398 0.3732 0.3359 0.4020 0.2127 0.44 0.0889 0.2848 0.3396 0.3542 het 120.81 13 3 108677821 . C A 120.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DP=13;Dels=0.00;FS=2.533;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=1.954;QD=9.29;ReadPosRankSum=0.101;VQSLOD=4.9549;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,6:13:99:151,0,222 3 108690221 108690221 G A exonic MORC1 nonsynonymous SNV MORC1:NM_014429:exon25:c.C2506T:p.H836Y 0.34 0.43 0.28 0.11 0.43 0.38 0.3725 0.4459 0.2042 0.0852 0.3457 0.4275 0.3678 0.3828 0.43 0.45 0.42 0.43 0.38 rs2593943 COSM4002370 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.685 0.102 N 1.000 0.090 P -1.32 0.007 N 3.54 0.048 T 1.43 0.008 N 0.021 0.013 -0.926 0.447 T 0.000 0.000 T . . . 0.632 0.154 8.373 0.470 0.038 0.009 0.035 N c -1.004 -0.781 0.000 0.029 0.487 0.133 0 2.2 0.268 1.050 0.298 0.244 0.267 0.730 0.287 0.996 0.625 4.125 0.095 . ENSG00000114487.5 Testis 0.3659 0.4482 0.2192 0.5497 0.0833 0.3475 0.4231 0.3984 0.3848 0.3932 0.4475 0.2476 0.5067 0.0885 0.3511 0.4090 0.4141 het 1242.42 115 3 108690221 . G A 1242.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.217;DP=115;Dels=0.00;FS=4.780;HRun=0;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;MQRankSum=1.653;QD=10.80;ReadPosRankSum=-0.134;VQSLOD=5.8524;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,52:115:99:1272,0,1681 3 108719470 108719470 C G exonic MORC1 synonymous SNV MORC1:NM_014429:exon21:c.G2121C:p.L707L 0.21 0.27 0.2 0.028 0.27 0.25 0.2431 0.2805 0.1390 0.0213 0.2251 0.2810 0.2572 0.2622 0.28 0.29 0.28 0.23 0.26 rs3762698 COSM4157124 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2372 0.2780 0.1443 0.3782 0.0197 0.2270 0.2758 0.2664 0.2577 0.2500 0.2737 0.1706 0.3344 0.0185 0.2329 0.2669 0.2648 het 1827.55 164 3 108719470 . C G 1827.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.469;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4071;MQ=57.93;MQ0=0;MQRankSum=1.513;QD=11.14;ReadPosRankSum=1.010;VQSLOD=4.4103;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:91,73:164:99:1858,0,2252 3 108754238 108754238 A T exonic MORC1 nonsynonymous SNV MORC1:NM_014429:exon15:c.T1408A:p.F470I 0.89 0.63 0.94 1. 0.99 0.98 0.9548 0.6898 0.9741 1 0.9906 0.9803 0.9625 0.9669 0.88 0.7 0.98 0.88 0.93 rs4855576 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.772 0.095 N 1 0.090 P -2.25 0.001 N 3.54 0.048 T 2.37 0.003 N 0.025 0.007 -1.029 0.208 T 0.000 0.000 T . . . -1.601 0.015 0.002 0.260 0.012 0.002 0.013 N c -1.902 -1.929 0.092 0.162 0.554 0.246 0 -8.08 0.010 -2.201 0.013 -0.342 0.072 0.000 0.063 0.116 0.195 3.673 0.078 . . . 0.9599 0.6742 0.9710 0.9630 0.9999 0.9900 0.9806 0.9592 0.9648 0.9008 0.6979 0.9669 0.9567 1 0.9867 0.9796 0.9646 hom 3026.02 107 3 108754238 . A T 3026.02 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7046;MQ=58.46;MQ0=0;QD=28.28;VQSLOD=7.5857;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3059,241,0 3 108754260 108754260 A G exonic MORC1 synonymous SNV MORC1:NM_014429:exon15:c.T1386C:p.D462D 0.36 0.51 0.29 0.11 0.43 0.38 0.3798 0.5194 0.2079 0.0851 0.3437 0.4281 0.3731 0.3855 0.46 0.53 0.42 0.43 0.33 rs3762696 COSM4002371 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3650 0.5042 0.2039 0.5461 0.0790 0.3437 0.4168 0.3942 0.3726 0.4112 0.5172 0.2463 0.5033 0.0891 0.3395 0.4077 0.4116 het 910.63 73 3 108754260 . A G 910.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.754;DP=73;Dels=0.00;FS=6.298;HRun=0;HaplotypeScore=0.5784;MQ=58.38;MQ0=0;MQRankSum=2.466;QD=12.47;ReadPosRankSum=-0.593;VQSLOD=4.3474;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,33:73:99:941,0,1088 3 109052732 109052732 T C exonic DPPA4 nonsynonymous SNV DPPA4:NM_001348928:exon2:c.A7G:p.I3V,DPPA4:NM_001348929:exon2:c.A163G:p.I55V,DPPA4:NM_018189:exon2:c.A163G:p.I55V 0.48 0.22 0.47 0.75 0.48 0.57 0.4934 0.2484 0.5493 0.7267 0.5602 0.4736 0.5099 0.5385 0.39 0.25 0.47 0.4 0.41 rs3762648 COSM3736301 2(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.33 0.131 T 0.0 0.026 B 0.001 0.040 B 0.001 0.007 N 1 0.090 P -1.355 0.007 N 2.01 0.589 T 0.34 0.038 N 0.065 0.051 -1.015 0.255 T 0.000 0.000 T . . . -2.563 0.003 0.001 0.179 0.005 0.007 0.029 N c -1.707 -1.772 1.000 0.747 0.543 0.218 0 -6.02 0.020 -1.088 0.035 -0.435 0.058 0.000 0.063 0.000 0.016 6.703 0.223 . ENSG00000121570.8|ENSG00000121570.8|ENSG00000121570.8|ENSG00000121570.8 Brain_Caudate_basal_ganglia|Brain_Putamen_basal_ganglia|Heart_Atrial_Appendage|Whole_Blood 0.5010 0.2464 0.5384 0.4279 0.7336 0.5647 0.4725 0.4987 0.5373 0.4436 0.2511 0.5348 0.4669 0.7295 0.5607 0.4896 0.4807 het 1751.69 148 3 109052732 . T C 1751.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.597;DP=148;Dels=0.00;FS=1.291;HRun=0;HaplotypeScore=4.9943;MQ=59.55;MQ0=0;MQRankSum=1.910;QD=11.84;ReadPosRankSum=-0.056;VQSLOD=5.1798;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,68:148:99:1782,0,1913 3 111356083 111356083 G C exonic CD96 synonymous SNV CD96:NM_005816:exon11:c.G1362C:p.P454P,CD96:NM_198196:exon12:c.G1410C:p.P470P 1. 0.99 1. 1. 1. 1. 0.9988 0.9871 0.9994 1 1 1.0000 1 1 1. 0.99 1. 1. 0.99 rs1533270 . . Benign C_syndrome RCV000324343.1 MedGen:OMIM:Orphanet C0796095:211750:ORPHA1308 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9878 0.9994 1 1 1 1.0000 0.9991 1 0.9961 0.9863 0.9988 1 1 1 1 0.9990 hom 2443.98 87 3 111356083 . G C 2443.98 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;QD=28.09;VQSLOD=7.4043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2477,184,0 3 111799845 111799845 A T exonic TMPRSS7 nonsynonymous SNV TMPRSS7:NM_001042575:exon16:c.A2068T:p.S690C 0.91 0.76 0.93 0.99 0.95 0.97 0.9442 0.7878 0.9407 0.9854 0.9403 0.9556 0.9722 0.9720 0.9 0.8 0.96 0.9 0.89 rs340151 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.220 P -2.69 0.000 N 0.75 0.502 T 9.39 0.000 N 0.245 0.299 -0.939 0.428 T 0.000 0.000 T . . . 1.112 0.201 11.28 0.095 0.001 0.183 0.200 N c -0.919 -0.505 1.000 0.416 0.487 0.133 0 5.75 0.904 5.768 0.683 0.139 0.223 1.000 0.715 0.998 0.697 11.529 0.497 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000174500.8 Pancreas 0.9469 0.7837 0.9436 0.9454 0.9851 0.9428 0.9581 0.9515 0.9721 0.9121 0.7983 0.9330 0.9338 0.9827 0.9360 0.9612 0.9450 het 2757.20 216 3 111799845 . A T 2757.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.922;DP=216;Dels=0.00;FS=1.657;HRun=0;HaplotypeScore=10.1124;MQ=58.56;MQ0=0;MQRankSum=-0.585;QD=12.76;ReadPosRankSum=0.514;VQSLOD=4.0942;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,105:216:99:2787,0,2936 3 111828423 111828423 G A exonic C3orf52 nonsynonymous SNV C3orf52:NM_024616:exon4:c.G430A:p.G144S 0.98 0.91 1. 1. 1. 1. 0.9932 0.9200 0.9974 1 1 1.0000 1 0.9999 0.98 0.92 1. 0.98 . rs340167 . . . . . . . . . . . . . 0.775 0.033 T 0.0 0.026 B 0.0 0.013 B 0.016 0.282 N 1.000 0.588 P -1.89 0.002 N 3.29 0.065 T 0.75 0.020 N 0.005 0.025 -1.024 0.225 T 0.000 0.000 T . . . 2.373 0.346 18.64 0.815 0.132 0.035 0.086 N c -0.988 -0.760 1.000 0.747 0.615 0.372 0 2.53 0.295 1.551 0.356 0.228 0.256 0.991 0.370 0.943 0.417 5.819 0.177 . . . 0.9944 0.9174 0.9971 1 1 1 0.9999 0.9983 0.9998 0.9791 0.9273 0.9952 1 1 1 0.9997 0.9959 hom 1078.40 41 3 111828423 . G A 1078.40 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=26.30;VQSLOD=6.9865;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:81.27:1111,81,0 3 111918215 111918215 C T exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon19:c.G2332A:p.G778S,SLC9C1:NM_183061:exon20:c.G2476A:p.G826S 0.34 0.37 0.4 0.34 0.24 0.34 0.3059 0.3578 0.4154 0.3822 0.2429 0.2659 0.2394 0.3478 0.3 0.36 0.27 . 0.22 rs28516377 COSM445305 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.314 0.142 T 0.004 0.296 B 0.006 0.243 B 0.895 0.073 N 1 0.090 P 0.55 0.145 N -0.98 0.759 T -0.25 0.110 N 0.04 0.020 -1.087 0.060 T 0.000 0.000 T . . . -1.490 0.017 0.003 0.422 0.031 0.002 0.011 N c -1.883 -1.878 0.001 0.074 0.554 0.246 0 -3.0 0.051 0.090 0.147 -1.320 0.013 0.007 0.175 0.000 0.016 8.727 0.335 . . . 0.3046 0.3587 0.3976 0.2613 0.3857 0.2501 0.2664 0.28 0.3408 0.2978 0.3414 0.3789 0.2219 0.3889 0.2530 0.2700 0.2982 het 398.32 63 3 111918215 . C T 398.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.070;DP=63;Dels=0.00;FS=1.051;HRun=0;HaplotypeScore=1.9968;MQ=57.02;MQ0=0;MQRankSum=1.061;QD=6.32;ReadPosRankSum=2.315;VQSLOD=2.3364;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,17:63:99:428,0,1212 3 111921116 111921116 C A exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon17:c.G2159T:p.S720I,SLC9C1:NM_183061:exon18:c.G2303T:p.S768I 0.34 0.37 0.4 0.34 0.24 0.34 0.3050 0.3564 0.4140 0.3821 0.2435 0.2655 0.2395 0.3450 0.3 0.36 0.27 0.29 0.25 rs9288938 COSM4417713 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(oesophagus) . . . . . . . . . . . 0.097 0.309 T 0.906 0.480 P 0.747 0.541 P 0.005 0.329 N 0.995 0.234 P 2.43 0.707 M -1.17 0.782 T -4.4 0.773 D 0.106 0.112 -1.055 0.131 T 0.000 0.000 T . . . 6.225 0.859 28.8 0.995 0.708 0.672 0.331 D c 0.087 0.061 0.000 0.012 0.554 0.246 0 1.96 0.251 0.121 0.154 -0.079 0.119 0.987 0.361 0.902 0.382 6.080 0.190 . . . 0.3067 0.3579 0.3961 0.2637 0.3873 0.2507 0.2671 0.2810 0.3423 0.2978 0.3403 0.3753 0.2219 0.3871 0.2529 0.2712 0.2975 het 629.12 60 3 111921116 . C A 629.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.080;DP=60;Dels=0.00;FS=5.468;HRun=2;HaplotypeScore=3.9880;MQ=58.13;MQ0=0;MQRankSum=0.119;QD=10.49;ReadPosRankSum=-0.267;VQSLOD=4.9080;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,27:60:99:659,0,891 3 111921225 111921225 G T exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon17:c.C2050A:p.Q684K,SLC9C1:NM_183061:exon18:c.C2194A:p.Q732K 0.83 0.7 0.85 0.99 0.73 0.93 0.7922 0.7123 0.8918 0.9888 0.6635 0.7437 0.7737 0.9181 0.74 0.71 0.75 0.83 0.7 rs6781844 . . . . . . . . . . . . . 0.507 0.076 T 0.074 0.357 B 0.064 0.287 B 0.119 0.191 N 0.994 0.235 P 2 0.545 M -0.96 0.756 T -1.51 0.368 N 0.068 0.055 -0.916 0.461 T 0.000 0.000 T . . . 1.203 0.210 11.76 0.918 0.205 0.284 0.233 N c -0.613 -0.463 0.001 0.072 0.554 0.246 0 5.09 0.685 1.297 0.328 0.049 0.161 0.118 0.229 0.914 0.390 13.191 0.590 . ENSG00000114529.8|ENSG00000172139.10|ENSG00000174500.8|ENSG00000261488.1|ENSG00000172139.10 Pancreas|Pancreas|Pancreas|Pancreas|Testis 0.7964 0.7144 0.8822 0.7095 0.9887 0.6681 0.7537 0.7698 0.9201 0.7429 0.7066 0.8489 0.7119 0.9876 0.6772 0.7471 0.7526 het 976.06 78 3 111921225 . G T 976.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.107;DP=78;Dels=0.00;FS=1.868;HRun=3;HaplotypeScore=1.7608;MQ=59.17;MQ0=0;MQRankSum=-0.180;QD=12.51;ReadPosRankSum=-1.089;VQSLOD=6.5936;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,39:78:99:1006,0,1125 3 111923123 111923123 G A exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon16:c.C1970T:p.T657I,SLC9C1:NM_183061:exon17:c.C2114T:p.T705I 0.83 0.7 0.85 0.99 0.73 0.93 0.7925 0.7133 0.8925 0.9887 0.6639 0.7438 0.7738 0.9181 0.74 0.71 0.75 0.83 0.52 rs4434123 . . . . . . . . . . . . . 0.774 0.033 T 0.001 0.067 B 0.002 0.063 B 0.918 0.075 N 1 0.090 P -0.475 0.027 N -1.24 0.790 T -0.43 0.152 N 0.014 0.002 -0.927 0.446 T 0.000 0.000 T . . . -0.942 0.034 0.021 0.482 0.040 0.003 0.018 N c -1.579 -1.544 0.000 0.012 0.554 0.246 0 -3.05 0.050 -1.066 0.035 -0.378 0.066 0.000 0.063 0.001 0.043 1.162 0.017 . ENSG00000114529.8|ENSG00000172139.10|ENSG00000174500.8|ENSG00000261488.1|ENSG00000172139.10 Pancreas|Pancreas|Pancreas|Pancreas|Testis 0.7803 0.7051 0.8787 0.7032 0.9890 0.6670 0.7478 0.7534 0.9145 0.7429 0.7069 0.8493 0.7119 0.9876 0.6774 0.7468 0.7526 het 341.22 47 3 111923123 . G A 341.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.671;DP=47;Dels=0.00;FS=1.226;HRun=1;HaplotypeScore=1.7608;MQ=59.51;MQ0=0;MQRankSum=-0.999;QD=7.26;ReadPosRankSum=-0.011;VQSLOD=5.6009;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,16:47:99:371,0,941 3 111962851 111962851 T C exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon10:c.A1126G:p.T376A,SLC9C1:NM_183061:exon11:c.A1270G:p.T424A 0.32 0.34 0.4 0.33 0.24 0.33 0.3032 0.3270 0.4132 0.3685 0.2445 0.2676 0.2432 0.3494 0.29 0.33 0.27 0.29 0.25 rs6768523 COSM4416503 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.695 0.042 T 0.202 0.343 B 0.281 0.386 B 0.944 0.076 N 0.947 0.266 P 1.845 0.488 L -1.04 0.766 T -1.75 0.446 N 0.046 0.026 -1.068 0.098 T 0.000 0.000 T . . . 0.719 0.162 8.948 0.600 0.062 0.211 0.211 N c -0.447 -0.417 0.000 0.062 0.554 0.283 0 3.96 0.449 0.072 0.144 0.992 0.602 0.200 0.241 0.979 0.486 7.641 0.273 Cation/H+ exchanger ENSG00000172139.10 Testis 0.3014 0.3234 0.3917 0.2629 0.3684 0.2511 0.2663 0.2762 0.3381 0.2883 0.3116 0.3747 0.2219 0.3708 0.2530 0.2704 0.2914 het 1144.73 106 3 111962851 . T C 1144.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.383;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.28;MQ0=0;MQRankSum=0.035;QD=10.80;ReadPosRankSum=-1.946;VQSLOD=6.0162;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,50:106:99:1175,0,1306 3 111981849 111981849 C T exonic SLC9C1 synonymous SNV SLC9C1:NM_001320531:exon9:c.G975A:p.K325K,SLC9C1:NM_183061:exon10:c.G1119A:p.K373K 0.64 0.48 0.71 0.77 0.6 0.72 0.6359 0.4957 0.7439 0.7974 0.5351 0.6070 0.6098 0.7231 0.58 0.5 0.62 0.66 0.5 rs9860819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6379 0.4830 0.7321 0.5541 0.7890 0.5411 0.6141 0.6073 0.7223 0.5779 0.4829 0.7248 0.5135 0.8037 0.5486 0.6066 0.6142 het 1038.33 85 3 111981849 . C T 1038.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.541;DP=85;Dels=0.00;FS=0.842;HRun=2;HaplotypeScore=0.8941;MQ=59.18;MQ0=0;MQRankSum=1.358;QD=12.22;ReadPosRankSum=-0.251;VQSLOD=6.3193;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,42:85:99:1068,0,1190 3 111981878 111981878 T C exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon9:c.A946G:p.I316V,SLC9C1:NM_183061:exon10:c.A1090G:p.I364V 0.64 0.48 0.71 0.77 0.6 0.72 0.6360 0.4953 0.7439 0.7974 0.5351 0.6071 0.6089 0.7231 0.58 0.5 0.62 0.66 0.52 rs9809384 . . . . . . . . . . . . . 0.181 0.219 T 0.0 0.026 B 0.0 0.013 B 0.005 0.333 N 1.000 0.090 P 0 0.065 N 2.43 0.153 T 0.76 0.020 N 0.012 0.002 -1.066 0.104 T 0.000 0.000 T . . . 0.705 0.161 8.860 0.915 0.201 0.028 0.074 N c -0.792 -0.575 0.001 0.073 0.487 0.133 0 4.91 0.638 1.673 0.369 -0.399 0.062 1.000 0.715 0.949 0.424 9.635 0.388 Cation/H+ exchanger ENSG00000174500.8|ENSG00000261488.1|ENSG00000172139.10 Pancreas|Pancreas|Testis 0.6382 0.4823 0.7330 0.5548 0.7896 0.5415 0.6141 0.6074 0.7221 0.5775 0.4825 0.7261 0.5168 0.8049 0.5486 0.6058 0.6145 het 1097.05 107 3 111981878 . T C 1097.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.274;DP=107;Dels=0.00;FS=3.605;HRun=2;HaplotypeScore=1.9575;MQ=58.38;MQ0=0;MQRankSum=-0.247;QD=10.25;ReadPosRankSum=1.239;VQSLOD=5.3553;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,50:107:99:1127,0,1459 3 111981924 111981924 T C exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon9:c.A900G:p.I300M,SLC9C1:NM_183061:exon10:c.A1044G:p.I348M 0.64 0.48 0.71 0.77 0.6 0.72 0.6359 0.4955 0.7444 0.7975 0.5353 0.6072 0.6091 0.7223 0.58 0.5 0.62 0.65 0.51 rs9809404 COSM5765854 1(large_intestine) . . . . . . . . . . . 0.658 0.071 T 0.0 0.026 B 0.001 0.040 B 0.050 0.231 N 1 0.090 P -1.935 0.002 N 2.34 0.165 T 0.4 0.035 N 0.065 0.051 -1.061 0.115 T 0.000 0.000 T . . . -0.814 0.040 0.040 0.103 0.001 0.029 0.077 N c -0.953 -0.756 0.000 0.038 0.487 0.133 0 2.95 0.331 0.578 0.233 0.029 0.149 0.981 0.351 0.939 0.413 7.921 0.288 Cation/H+ exchanger ENSG00000174500.8|ENSG00000261488.1|ENSG00000172139.10 Pancreas|Pancreas|Testis 0.6130 0.4659 0.6867 0.5248 0.7675 0.5317 0.6004 0.5722 0.7047 0.5779 0.4828 0.7249 0.5167 0.8031 0.5487 0.6065 0.6145 het 870.51 80 3 111981924 . T C 870.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.971;DP=80;Dels=0.00;FS=4.603;HRun=0;HaplotypeScore=1.9325;MQ=58.48;MQ0=0;MQRankSum=-0.326;QD=10.88;ReadPosRankSum=-1.893;VQSLOD=4.8328;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,34:80:99:901,0,1153 3 111983157 111983157 G A exonic SLC9C1 synonymous SNV SLC9C1:NM_183061:exon9:c.C912T:p.L304L 0.12 0.13 0.14 0.011 0.26 0.065 0.2254 0.1744 0.1073 0.0163 0.3776 0.2963 0.2487 0.0973 0.21 0.15 0.24 0.11 0.15 rs62276974 COSM6019126 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2094 0.1445 0.1032 0.2889 0.0117 0.3321 0.2468 0.2325 0.0828 0.2150 0.1513 0.1322 0.27 0.0130 0.3246 0.2512 0.2381 het 381.16 28 3 111983157 . G A 381.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.273;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8561;MQ=58.50;MQ0=0;MQRankSum=0.302;QD=13.61;ReadPosRankSum=0.487;VQSLOD=5.3734;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,16:28:99:411,0,273 3 111985107 111985107 T C exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon8:c.A856G:p.I286V,SLC9C1:NM_183061:exon8:c.A856G:p.I286V 0.33 0.34 0.4 0.34 0.24 0.34 0.3035 0.3301 0.4154 0.3836 0.2439 0.2662 0.2389 0.3448 0.29 0.34 0.27 0.27 0.25 rs9872691 COSM4002383 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.257 0.154 N 1.000 0.189 P -1.64 0.004 N 3.95 0.034 T 0.28 0.042 N 0.01 0.001 -0.970 0.372 T 0.000 0.000 T . . . -0.823 0.039 0.038 0.196 0.007 0.047 0.103 N c -0.921 -0.709 0.000 0.048 0.554 0.246 0 3.23 0.360 0.309 0.190 0.034 0.151 0.993 0.376 0.846 0.353 7.857 0.285 Cation/H+ exchanger ENSG00000172139.10 Testis 0.3056 0.3301 0.3970 0.2641 0.3888 0.2510 0.2677 0.2809 0.3432 0.2901 0.3158 0.3771 0.2219 0.3851 0.2527 0.2696 0.2974 het 1129.26 101 3 111985107 . T C 1129.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.403;DP=101;Dels=0.00;FS=1.620;HRun=0;HaplotypeScore=0.8667;MQ=59.07;MQ0=0;MQRankSum=-0.330;QD=11.18;ReadPosRankSum=1.996;VQSLOD=6.0304;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,48:101:99:1159,0,1256 3 111996554 111996554 T C exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon5:c.A472G:p.I158V,SLC9C1:NM_183061:exon5:c.A472G:p.I158V 0.31 0.31 0.4 0.3 0.23 0.34 0.3006 0.3101 0.4156 0.3572 0.2414 0.2672 0.2378 0.3472 0.29 0.32 0.27 0.27 0.23 rs9828502 COSM4002385 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.158 0.239 T 0.002 0.102 B 0.005 0.145 B 0.002 0.367 N 1.000 0.090 P 1.52 0.385 L 2.59 0.133 T -0.69 0.234 N 0.067 0.088 -0.934 0.435 T 0.000 0.000 T . . . -2.086 0.007 0.001 0.281 0.014 0.247 0.223 N c -1.304 -1.283 0.004 0.102 0.487 0.133 0 -1.34 0.086 0.125 0.155 -0.924 0.025 0.997 0.399 0.151 0.205 5.697 0.170 Cation/H+ exchanger ENSG00000172139.10 Testis 0.2978 0.3034 0.3919 0.2622 0.3568 0.2482 0.2670 0.2768 0.3373 0.2815 0.2917 0.3744 0.2219 0.3535 0.2489 0.2708 0.2914 het 841.17 98 3 111996554 . T C 841.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.013;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.11;MQ0=0;MQRankSum=1.587;QD=8.58;ReadPosRankSum=0.539;VQSLOD=6.0505;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,40:98:99:871,0,1411 3 112059768 112059768 C G exonic CD200 nonsynonymous SNV CD200:NM_005944:exon2:c.C32G:p.S11C,CD200:NM_001004196:exon3:c.C107G:p.S36C 0.66 0.78 0.55 0.71 0.51 0.69 0.5991 0.7576 0.5726 0.7300 0.5313 0.5452 0.5925 0.6947 0.61 0.75 0.54 0.6 0.48 rs1131199 COSM4417751 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.041 0.240 N 1 0.468 P -2.015 0.002 N -0.41 0.694 T 2.65 0.002 N 0.065 0.058 -0.973 0.366 T 0.000 0.000 T . . . 0.428 0.135 6.856 0.159 0.004 0.010 0.038 N c -1.237 -1.076 1.000 0.413 0.635 0.413 0 -0.608 0.110 0.143 0.158 0.136 0.221 0.188 0.239 0.994 0.587 4.712 0.122 Immunoglobulin subtype|Immunoglobulin-like domain . . 0.5909 0.7608 0.5687 0.5709 0.7304 0.5346 0.5391 0.5620 0.6930 0.6076 0.7497 0.5458 0.5828 0.7259 0.5332 0.5376 0.5450 hom 3100.02 110 3 112059768 . C G 3100.02 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=58.48;MQ0=0;QD=28.18;VQSLOD=7.5042;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3133,238,0 3 112185025 112185025 G A exonic BTLA nonsynonymous SNV BTLA:NM_001085357:exon4:c.C656T:p.P219L,BTLA:NM_181780:exon5:c.C800T:p.P267L 0.64 0.18 0.74 0.72 0.96 0.8 0.8330 0.2746 0.6428 0.7280 0.9696 0.9536 0.8921 0.8283 0.73 0.3 0.96 0.52 0.91 rs9288952 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.205 0.033 N 1 0.090 P 0 0.065 N 2.05 0.280 T 1.59 0.007 N 0.01 0.001 -1.024 0.222 T 0.000 0.000 T . . . -1.174 0.026 0.007 0.246 0.011 0.003 0.015 N c -1.561 -1.527 1.000 0.417 0.757 0.989 0 -0.709 0.106 0.104 0.150 -0.811 0.031 0.000 0.063 0.004 0.083 5.075 0.139 . ENSG00000138459.4|ENSG00000138459.4 Adipose_Subcutaneous|Lung 0.8378 0.2618 0.6583 0.9286 0.7225 0.9671 0.9562 0.8722 0.8249 0.7462 0.2820 0.6969 0.9470 0.7235 0.9685 0.9547 0.8961 hom 6163.20 183 3 112185025 . G A 6163.20 Mask AC=2;AF=1.00;AN=2;DP=183;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=33.68;VQSLOD=10.0609;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:183:99:6163,473,0 3 112190137 112190137 G T exonic BTLA nonsynonymous SNV BTLA:NM_181780:exon3:c.C469A:p.R157S 0.99 0.96 1. 0.99 1. 1. 0.9969 0.9702 0.9988 0.9949 1 1.0000 0.9978 0.9997 0.99 0.97 1. 0.99 1. rs2931761 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.973 0.081 N 1 0.090 P -1.445 0.006 N 2.04 0.208 T 1.32 0.009 N 0.022 0.153 -1.002 0.295 T 0.000 0.000 T . . . -0.356 0.064 0.494 0.379 0.025 0.001 0.008 N c -1.746 -1.729 1.000 0.747 0.722 0.854 0 -4.86 0.029 -1.490 0.024 0.088 0.194 0.000 0.063 0.651 0.299 1.509 0.023 . . . 0.9974 0.9679 0.9988 1 0.9945 1 1.0000 0.9982 0.9996 0.9912 0.9705 0.9976 1 0.9926 1 1 0.9990 hom 2694.78 82 3 112190137 . G T 2694.78 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.77;MQ0=0;QD=32.86;VQSLOD=9.4886;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:82:99:2728,214,0 3 112546306 112546306 C A exonic CD200R1L nonsynonymous SNV CD200R1L:NM_001008784:exon3:c.G338T:p.R113L,CD200R1L:NM_001199215:exon4:c.G275T:p.R92L 0.29 0.53 0.29 0.096 0.18 0.28 0.2365 0.4805 0.3033 0.1198 0.1896 0.1994 0.2081 0.2671 0.29 0.46 0.21 0.26 0.2 rs4682119 COSM4002388 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.024 0.477 D 0.319 0.312 B 0.03 0.205 B 0.079 0.023 N 1 0.090 P 0.69 0.170 N 3.02 0.090 T -2.64 0.566 D 0.05 0.031 -0.933 0.438 T 0.000 0.000 T . . . 1.302 0.221 12.28 0.670 0.080 0.015 0.050 N c -1.815 -1.887 0.040 0.145 0.487 0.133 0 -3.53 0.043 -1.095 0.034 -1.572 0.009 0.000 0.063 0.000 0.016 5.233 0.147 Immunoglobulin-like fold ENSG00000163607.10 Adrenal_Gland 0.2344 0.4794 0.3013 0.2146 0.1147 0.1949 0.2015 0.2123 0.2653 0.2790 0.4646 0.2823 0.2517 0.1180 0.2010 0.2115 0.2122 het 1399.80 133 3 112546306 . C A 1399.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.624;DP=133;Dels=0.00;FS=5.547;HRun=1;HaplotypeScore=0.0000;MQ=58.04;MQ0=0;MQRankSum=-0.516;QD=10.52;ReadPosRankSum=1.553;VQSLOD=3.7696;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,51:133:99:1430,0,2150 3 112642568 112642568 C G exonic CD200R1 nonsynonymous SNV CD200R1:NM_170780:exon7:c.G934C:p.E312Q,CD200R1:NM_138806:exon8:c.G1003C:p.E335Q 0.65 0.72 0.61 0.7 0.53 0.66 0.5704 0.6941 0.5563 0.6792 0.4871 0.5378 0.5519 0.6112 0.58 0.68 0.53 0.61 0.53 rs9865242 COSM3759608 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.486 0.050 N 1 0.090 P -1.65 0.004 N 2.55 0.138 T 0.63 0.024 N 0.013 0.002 -0.967 0.378 T 0.000 0.000 T . . . -1.351 0.021 0.004 0.046 0.000 0.000 0.002 N c -1.370 -1.266 0.000 0.069 0.554 0.246 0 2.49 0.291 -0.022 0.123 0.136 0.221 0.000 0.063 0.003 0.074 4.438 0.109 . . . 0.5629 0.6972 0.5505 0.4608 0.6729 0.4947 0.5423 0.5492 0.6081 0.5865 0.6942 0.5478 0.4767 0.6588 0.4843 0.5489 0.5184 het 676.38 91 3 112642568 . C G 676.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.607;DP=91;Dels=0.00;FS=0.850;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=0.348;QD=7.43;ReadPosRankSum=0.038;VQSLOD=4.7204;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,31:91:99:706,0,1622 3 112647783 112647783 T C exonic CD200R1 nonsynonymous SNV CD200R1:NM_170780:exon4:c.A580G:p.S194G,CD200R1:NM_138806:exon5:c.A649G:p.S217G 0.0032 . 0.0072 . 0.006 0.0051 0.0111 0.0038 0.0042 0 0.0082 0.0156 0.0044 0.0095 0.013 0.0045 0.017 . 0.033 rs34985808 COSM1417812 1(oesophagus) . . . . . . . . . . . 0.896 0.025 T 0.0 0.026 B 0.0 0.013 B 0.520 0.052 N 1 0.090 N -0.605 0.022 N -1.01 0.762 T 0.85 0.017 N 0.013 0.003 -0.986 0.335 T 0.068 0.278 T . . . -2.029 0.008 0.001 0.139 0.003 0.004 0.018 N c -1.441 -1.358 0.002 0.087 0.563 0.310 0 0.174 0.143 -0.806 0.046 -0.435 0.058 0.000 0.063 0.058 0.169 4.425 0.108 CD80-like\x2c immunoglobulin C2-set|Immunoglobulin-like domain . . 0.0111 0.0036 0.0056 0.0077 0 0.0073 0.0171 0.0104 0.0095 0.0102 0.0025 0.0036 0.0066 0.0006 0.0083 0.0165 0.0122 het 1096.01 97 3 112647783 . T C 1096.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.972;DP=97;Dels=0.00;FS=3.964;HRun=2;HaplotypeScore=1.6208;MQ=59.33;MQ0=0;MQRankSum=1.826;QD=11.30;ReadPosRankSum=0.236;VQSLOD=5.3113;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,43:97:99:1126,0,1378 3 112647832 112647832 A C exonic CD200R1 nonsynonymous SNV CD200R1:NM_170780:exon4:c.T531G:p.H177Q,CD200R1:NM_138806:exon5:c.T600G:p.H200Q 0.65 0.72 0.61 0.7 0.53 0.66 0.5713 0.6944 0.5573 0.6800 0.4875 0.5384 0.5518 0.6139 0.58 0.68 0.53 0.61 0.55 rs9826308 COSM3759609 2(pancreas);1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.291 0.148 N 1.000 0.588 P . . . -0.79 0.737 T 4.01 0.001 N 0.007 0.000 -0.944 0.420 T 0.000 0.000 T . . . -0.844 0.038 0.034 0.289 0.015 0.006 0.025 N c -0.766 -0.775 0.010 0.119 0.554 0.246 0 3.59 0.401 0.357 0.198 -0.552 0.047 0.121 0.230 0.933 0.406 9.990 0.408 CD80-like\x2c immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like\x2c immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.5648 0.6993 0.5523 0.4630 0.6750 0.4954 0.5437 0.5507 0.6114 0.5866 0.6939 0.5478 0.4735 0.6561 0.4839 0.5497 0.5184 het 1382.14 92 3 112647832 . A C 1382.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.578;DP=92;Dels=0.00;FS=0.808;HRun=0;HaplotypeScore=2.6274;MQ=59.80;MQ0=0;MQRankSum=0.396;QD=15.02;ReadPosRankSum=-1.117;VQSLOD=5.5041;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,50:92:99:1412,0,1004 3 112648125 112648125 G T exonic CD200R1 synonymous SNV CD200R1:NM_138940:exon3:c.C363A:p.T121T,CD200R1:NM_170780:exon3:c.C363A:p.T121T,CD200R1:NM_138806:exon4:c.C432A:p.T144T,CD200R1:NM_138939:exon4:c.C432A:p.T144T 0.65 0.72 0.61 0.7 0.53 0.66 0.5698 0.6941 0.5549 0.6789 0.4867 0.5373 0.5507 0.6110 0.3 0.42 0.24 . 0.55 rs6438117 COSM1742956;COSM1742955 1(kidney);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5639 0.6990 0.5517 0.4629 0.6744 0.4951 0.5430 0.5496 0.6087 0.5835 0.6915 0.5506 0.4735 0.6488 0.4837 0.5457 0.5154 het 1948.62 158 3 112648125 . G T 1948.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.307;DP=158;Dels=0.00;FS=2.050;HRun=0;HaplotypeScore=1.9827;MQ=57.71;MQ0=0;MQRankSum=0.136;QD=12.33;ReadPosRankSum=0.311;VQSLOD=4.8827;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,71:158:99:1979,0,2157 3 112648127 112648127 T G exonic CD200R1 nonsynonymous SNV CD200R1:NM_138940:exon3:c.A361C:p.T121P,CD200R1:NM_170780:exon3:c.A361C:p.T121P,CD200R1:NM_138806:exon4:c.A430C:p.T144P,CD200R1:NM_138939:exon4:c.A430C:p.T144P 0.65 0.72 0.61 0.7 0.53 0.66 0.5699 0.6942 0.5551 0.6789 0.4868 0.5373 0.5507 0.6111 0.28 0.39 0.23 . 0.55 rs4596117 COSM3759610;COSM3759611 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.165 0.175 N 1 0.090 P . . . 1.6 0.286 T 5.2 0.000 N 0.033 0.013 -0.937 0.431 T 0.000 0.000 T . . . -0.927 0.035 0.023 0.110 0.002 0.003 0.016 N c -0.670 -0.718 0.024 0.136 0.633 0.409 0 4.59 0.561 0.715 0.253 -0.443 0.057 0.030 0.202 0.019 0.132 3.940 0.088 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.5639 0.6992 0.5517 0.4629 0.6744 0.4952 0.5430 0.5496 0.6087 0.5834 0.6915 0.5493 0.4735 0.6488 0.4834 0.5456 0.5153 het 1893.16 152 3 112648127 . T G 1893.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.898;DP=152;Dels=0.00;FS=2.092;HRun=2;HaplotypeScore=1.9827;MQ=57.62;MQ0=0;MQRankSum=0.087;QD=12.46;ReadPosRankSum=0.454;VQSLOD=4.3335;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,68:152:99:1923,0,2051 3 112727184 112727184 A T exonic NEPRO nonsynonymous SNV NEPRO:NM_001319110:exon5:c.T568A:p.F190I,NEPRO:NM_001319109:exon6:c.T859A:p.F287I,NEPRO:NM_001319111:exon7:c.T460A:p.F154I,NEPRO:NM_001319112:exon7:c.T736A:p.F246I,NEPRO:NM_001319114:exon7:c.T661A:p.F221I,NEPRO:NM_001319115:exon7:c.T778A:p.F260I,NEPRO:NM_015412:exon8:c.T1069A:p.F357I 0.5 0.21 0.74 0.35 0.76 0.6 0.6698 0.2843 0.7751 0.3484 0.6435 0.7684 0.6927 0.6168 0.61 0.3 0.77 0.49 0.76 rs2306857 COSM4157131 1(thyroid) . . . . . . . . . . . 0.53 0.082 T 0.419 0.335 B 0.168 0.378 B 0.009 0.307 N 1.000 0.201 P 1.895 0.505 L 1.49 0.315 T -1.02 0.366 N 0.079 0.074 -1.024 0.222 T 0.000 0.000 T . . . 0.296 0.123 5.660 0.904 0.191 0.133 0.176 N c -0.771 -0.815 1.000 0.418 0.707 0.730 0 0.155 0.141 0.281 0.184 -0.252 0.090 0.065 0.217 0.055 0.167 4.365 0.106 . ENSG00000163607.10|ENSG00000163607.10|ENSG00000163607.10|ENSG00000163607.10|ENSG00000163607.10|ENSG00000163608.10 Adipose_Visceral_Omentum|Adrenal_Gland|Cells_EBV-transformed_lymphocytes|Colon_Transverse|Pancreas|Whole_Blood 0.6808 0.2732 0.7729 0.7926 0.3516 0.6513 0.7707 0.7307 0.6182 0.6009 0.2893 0.7751 0.8079 0.3555 0.6532 0.7775 0.6721 hom 2096.73 69 3 112727184 . A T 2096.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.379;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6203;MQ=58.35;MQ0=0;MQRankSum=2.343;QD=30.39;ReadPosRankSum=0.769;VQSLOD=7.6100;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,67:69:99:2130,175,0 3 112993367 112993367 G A exonic BOC synonymous SNV BOC:NM_001301861:exon9:c.G1380A:p.P460P,BOC:NM_033254:exon9:c.G1380A:p.P460P 0.13 0.12 0.085 0.16 0.16 0.12 0.1500 0.1379 0.0771 0.1451 0.1160 0.1765 0.1320 0.1202 0.16 0.14 0.17 0.12 0.098 rs13094203 COSM3759615 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1448 0.1339 0.0792 0.1724 0.1428 0.1173 0.1771 0.1502 0.1183 0.1508 0.1234 0.0837 0.1854 0.1358 0.1158 0.1799 0.1472 hom 1914.51 59 3 112993367 . G A 1914.51 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=32.45;VQSLOD=9.4693;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1948,165,0 3 112997554 112997554 A G exonic BOC synonymous SNV BOC:NM_001301861:exon11:c.A1740G:p.K580K,BOC:NM_033254:exon11:c.A1737G:p.K579K 0.62 0.77 0.54 0.72 0.48 0.52 0.5820 0.7428 0.6437 0.7529 0.6390 0.5316 0.5934 0.5372 0.55 0.74 0.45 0.59 0.2 rs775228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5234 0.7315 0.5791 0.4652 0.7220 0.5469 0.4459 0.4979 0.5239 0.5776 0.7346 0.5831 0.4934 0.7082 0.5493 0.4829 0.5297 hom 393.09 12 3 112997554 . A G 393.09 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;QD=32.76;VQSLOD=9.1183;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:426,33,0 3 112998268 112998268 G A exonic BOC synonymous SNV BOC:NM_001301861:exon12:c.G1989A:p.S663S,BOC:NM_033254:exon12:c.G1986A:p.S662S 0.18 0.31 0.099 0.16 0.16 0.1 0.1630 0.3066 0.0846 0.1447 0.1165 0.1741 0.1373 0.1129 0.22 0.31 0.17 0.21 0.14 rs2650100 COSM3759617 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1555 0.3090 0.0872 0.1684 0.1416 0.1169 0.1759 0.1535 0.1117 0.2000 0.2983 0.0895 0.1887 0.1326 0.1154 0.1787 0.1622 hom 1777.44 62 3 112998268 . G A 1777.44 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=59.40;MQ0=0;QD=28.67;VQSLOD=7.8409;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:62:99:1810,147,0 3 113115543 113115543 C G exonic CFAP44 nonsynonymous SNV CFAP44:NM_001164496:exon14:c.G1601C:p.G534A,CFAP44:NM_018338:exon14:c.G1601C:p.G534A 0.01 0.0023 0.019 . 0.02 0.014 0.0238 0.0066 0.0077 0.0003 0.0282 0.0327 0.0222 0.0198 0.024 0.0091 0.031 . 0.066 rs77501585 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.999 0.916 D . . . 1.000 0.491 D 2.76 0.809 M -0.48 0.703 T -4.66 0.795 D 0.365 0.621 -0.268 0.759 T 0.286 0.658 T . . . 4.081 0.548 23.7 0.999 0.940 0.987 0.851 D c 0.801 0.782 1.000 0.747 0.554 0.246 0 5.49 0.809 6.726 0.744 0.935 0.490 1.000 0.715 0.969 0.458 19.330 0.942 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.0234 0.0063 0.0074 0.0303 0.0002 0.0255 0.0342 0.0211 0.0202 0.0238 0.0064 0.0131 0.0298 0 0.0244 0.0368 0.0245 het 526.04 44 3 113115543 . C G 526.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.382;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;MQRankSum=-1.608;QD=11.96;ReadPosRankSum=-0.200;VQSLOD=5.7951;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,22:44:99:556,0,545 3 113176122 113176122 G A exonic SPICE1 synonymous SNV SPICE1:NM_001331078:exon13:c.C1518T:p.P506P,SPICE1:NM_001331079:exon13:c.C1560T:p.P520P,SPICE1:NM_144718:exon13:c.C1518T:p.P506P 0.33 0.58 0.18 0.3 0.25 0.21 0.2597 0.5342 0.1270 0.2842 0.1914 0.2566 0.2643 0.2071 0.35 0.53 0.25 0.35 0.29 rs7637618 COSM3759620;COSM3759621 3(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2482 0.5344 0.1337 0.3973 0.2777 0.1893 0.2483 0.2579 0.2075 0.3236 0.5292 0.1599 0.4305 0.2416 0.1727 0.2599 0.2541 het 1599.74 137 3 113176122 . G A 1599.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.108;DP=137;Dels=0.00;FS=0.652;HRun=0;HaplotypeScore=0.8667;MQ=58.85;MQ0=0;MQRankSum=0.861;QD=11.68;ReadPosRankSum=0.093;VQSLOD=6.5818;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,64:137:99:1630,0,1913 3 113222036 113222036 G A exonic SPICE1 synonymous SNV SPICE1:NM_001331078:exon3:c.C138T:p.P46P,SPICE1:NM_001331079:exon3:c.C180T:p.P60P,SPICE1:NM_144718:exon3:c.C138T:p.P46P 0.24 0.37 0.14 0.22 0.23 0.19 0.2205 0.3477 0.1067 0.2071 0.1744 0.2345 0.2346 0.1873 0.27 0.35 0.23 0.24 0.17 rs11537650 COSM3759622;COSM3759623 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2100 0.3452 0.1103 0.3684 0.1950 0.1696 0.2238 0.2239 0.1836 0.2540 0.3508 0.1415 0.4106 0.1652 0.1572 0.2351 0.2188 het 379.86 57 3 113222036 . G A 379.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.006;DP=57;Dels=0.00;FS=1.074;HRun=0;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;MQRankSum=0.059;QD=6.66;ReadPosRankSum=-0.025;VQSLOD=5.1014;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,19:57:99:410,0,922 3 113373930 113373930 A G exonic USF3 nonsynonymous SNV USF3:NM_001009899:exon7:c.T6599C:p.V2200A 1. 1. 1. 1. 1. 1. 0.9994 0.9964 0.9997 1 1 0.9994 1 1 1. 1. 1. 1. 1. rs930818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9994 0.9960 0.9996 0.9979 1 1.0000 0.9996 0.9993 1 0.9987 0.9968 0.9988 1 1 0.9997 0.9995 0.9969 hom 3505.28 113 3 113373930 . A G 3505.28 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=59.24;MQ0=0;QD=31.02;VQSLOD=8.7758;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3505,280,0 3 113377361 113377361 A G exonic USF3 synonymous SNV USF3:NM_001009899:exon7:c.T3168C:p.N1056N 0.3 0.44 0.27 0.22 0.36 0.18 0.3226 0.4171 0.2458 0.2425 0.3902 0.3572 0.3211 0.1952 0.36 0.4 0.34 0.28 0.27 rs9813630 COSM3759627 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3126 0.4101 0.2472 0.2552 0.2367 0.3959 0.3526 0.3138 0.1912 0.3650 0.4119 0.2578 0.2517 0.2198 0.4001 0.3560 0.3276 het 1921.72 170 3 113377361 . A G 1921.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.236;DP=170;DS;Dels=0.00;FS=1.278;HRun=0;HaplotypeScore=0.9578;MQ=59.75;MQ0=0;MQRankSum=-0.077;QD=11.30;ReadPosRankSum=-1.556;VQSLOD=6.3656;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:94,76:170:99:1952,0,2610 3 113379865 113379865 G C exonic USF3 nonsynonymous SNV USF3:NM_001009899:exon7:c.C664G:p.P222A 0.21 0.15 0.18 0.2 0.35 0.16 0.2885 0.1524 0.1608 0.2197 0.3906 0.3557 0.3011 0.1816 0.27 0.15 0.33 0.12 0.27 rs9866806 COSM3759629 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.102 0.302 T 0.104 0.244 B 0.023 0.188 B 0.117 0.191 N 0.921 0.588 P 0.345 0.112 N 2.6 0.132 T -0.71 0.202 N 0.082 0.080 -0.901 0.480 T 0.000 0.000 T . . . 0.318 0.125 5.867 0.810 0.130 0.900 0.506 D c -0.330 -0.141 1.000 0.747 0.563 0.310 0 3.04 0.340 0.735 0.256 0.154 0.240 1.000 0.715 1.000 0.888 1.794 0.028 . ENSG00000114573.5 Nerve_Tibial 0.2808 0.1412 0.1693 0.2533 0.2157 0.3957 0.3511 0.2923 0.1782 0.2848 0.1434 0.1802 0.2483 0.1969 0.4006 0.3546 0.3088 het 417.99 48 3 113379865 . G C 417.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.216;DP=48;Dels=0.00;FS=11.114;HRun=1;HaplotypeScore=3.3052;MQ=58.55;MQ0=0;MQRankSum=0.754;QD=8.71;ReadPosRankSum=0.043;VQSLOD=4.0850;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,17:48:99:448,0,910 3 113655207 113655207 C T exonic GRAMD1C synonymous SNV GRAMD1C:NM_001172105:exon9:c.C936T:p.N312N,GRAMD1C:NM_017577:exon14:c.C1551T:p.N517N 0.23 0.037 0.32 0.27 0.33 0.29 0.2890 0.0748 0.3395 0.2545 0.2693 0.3196 0.2874 0.2906 0.24 0.083 0.32 0.27 0.3 rs3765114 COSM4002403 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2967 0.0697 0.3342 0.4118 0.2532 0.2713 0.3182 0.3112 0.2947 0.2332 0.0784 0.3317 0.4073 0.2519 0.2664 0.3015 0.2812 het 2101.53 184 3 113655207 . C T 2101.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.014;DP=184;Dels=0.00;FS=1.905;HRun=0;HaplotypeScore=2.4921;MQ=58.90;MQ0=0;MQRankSum=-1.251;QD=11.42;ReadPosRankSum=-1.383;VQSLOD=5.2727;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,87:184:99:2132,0,2464 3 113673125 113673125 A G exonic ZDHHC23 nonsynonymous SNV ZDHHC23:NM_001320466:exon3:c.A740G:p.K247R,ZDHHC23:NM_001320467:exon3:c.A740G:p.K247R,ZDHHC23:NM_001320468:exon3:c.A740G:p.K247R,ZDHHC23:NM_173570:exon3:c.A740G:p.K247R 0.6 0.65 0.53 0.67 0.56 0.54 0.5545 0.6247 0.5211 0.6442 0.5574 0.5411 0.5476 0.5399 0.56 0.61 0.54 0.62 0.43 rs11921691 COSM3724231 1(pancreas);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.845 0.028 T 0.0 0.026 B 0.0 0.013 B 0.269 0.152 N 1 0.090 P -1.265 0.007 N 1.81 0.252 T 0.08 0.060 N 0.012 0.001 -0.994 0.315 T 0.000 0.000 T . . . -1.034 0.031 0.014 0.334 0.020 0.002 0.011 N c -1.267 -1.183 1.000 0.489 0.706 0.609 0 2.19 0.268 2.307 0.431 0.138 0.222 0.817 0.297 0.003 0.074 10.130 0.417 . . . 0.5532 0.6244 0.5267 0.5646 0.6479 0.5571 0.5388 0.5456 0.5412 0.5587 0.6220 0.5322 0.5530 0.6689 0.5624 0.5121 0.5357 het 1226.59 98 3 113673125 . A G 1226.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.557;DP=98;Dels=0.00;FS=3.044;HRun=1;HaplotypeScore=4.2844;MQ=59.57;MQ0=0;MQRankSum=0.640;QD=12.52;ReadPosRankSum=1.010;VQSLOD=5.6581;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,47:98:99:1257,0,1448 3 113729787 113729787 G - exonic CCDC191 frameshift deletion CCDC191:NM_020817:exon9:c.1245delC:p.E416Sfs*2 0.0064 0.0008 0.0058 . 0.024 0.0031 0.0135 0.0026 0.0049 0 0.0145 0.0209 0.0055 0.0035 0.02 0.013 0.023 . . rs201851070 COSM327986;COSM5713093 1(pancreas);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0130 0.0027 0.0069 0.0270 0 0.0128 0.0199 0.0124 0.0033 0.0120 0.0027 0.0167 0.0397 0.0006 0.0163 0.0169 0.0102 het 4317.27 249 3 113729786 . CG C 4317.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.892;DP=249;FS=2.252;HRun=2;HaplotypeScore=616.5618;MQ=60.24;MQ0=0;MQRankSum=1.453;QD=17.34;ReadPosRankSum=0.923;set=variant2 GT:AD:DP:GQ:PL 0/1:118,131:249:99:4317,0,4123 3 113737568 113737568 G A exonic CCDC191 nonsynonymous SNV CCDC191:NM_020817:exon8:c.C1120T:p.R374W 0.013 0.0023 0.025 . 0.041 0.0061 0.0295 0.0069 0.0222 0.0003 0.0319 0.0432 0.0363 0.0075 0.03 0.0073 0.042 0.011 0.057 rs17603649 . . . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.966 0.722 D 0.005 0.330 N 0.666 0.331 D 2.395 0.694 M 0.9 0.571 T -4.55 0.841 D 0.462 0.513 -0.574 0.659 T 0.129 0.438 T . . . 7.425 0.951 34 0.999 0.987 0.916 0.536 D c 0.652 0.614 0.822 0.245 0.638 0.428 0 4.83 0.617 2.446 0.443 1.048 0.713 0.995 0.385 0.590 0.287 15.597 0.762 . . . 0.0312 0.0064 0.0239 0.1153 0.0004 0.0321 0.0397 0.0451 0.0078 0.0280 0.0072 0.0251 0.1258 0 0.0275 0.0408 0.0387 het 3050.90 222 3 113737568 . G A 3050.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.666;DP=222;Dels=0.00;FS=1.804;HRun=0;HaplotypeScore=3.7866;MQ=58.12;MQ0=0;MQRankSum=2.705;QD=13.74;ReadPosRankSum=1.375;VQSLOD=4.2703;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,117:222:99:3081,0,2629 3 113858350 113858350 C T exonic DRD3 synonymous SNV DRD3:NM_000796:exon5:c.G720A:p.Q240Q,DRD3:NM_033663:exon5:c.G720A:p.Q240Q,DRD3:NM_001282563:exon6:c.G720A:p.Q240Q,DRD3:NM_001290809:exon6:c.G720A:p.Q240Q 0.96 0.87 0.99 1. 1. 0.97 0.9848 0.8768 0.9925 0.9995 1 0.9995 0.9923 0.9740 0.96 0.87 1. 0.9 1. rs2251177 . . Likely benign Hereditary_Essential_Tremor RCV000370469.1 MedGen C0393615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9878 0.8763 0.9935 0.9999 0.9998 1.0000 0.9995 0.9932 0.9741 0.9645 0.8759 0.9964 1 0.9994 1 0.9997 0.9898 hom 7814.23 250 3 113858350 . C T 7814.23 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.7566;MQ=59.67;MQ0=0;QD=31.26;VQSLOD=2.4009;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7813,638,0 3 113890815 113890815 C T exonic DRD3 nonsynonymous SNV DRD3:NM_000796:exon2:c.G25A:p.G9S,DRD3:NM_033663:exon2:c.G25A:p.G9S,DRD3:NM_001282563:exon3:c.G25A:p.G9S,DRD3:NM_001290809:exon3:c.G25A:p.G9S 0.51 0.18 0.57 0.69 0.66 0.58 0.6568 0.3137 0.6084 0.7087 0.7035 0.7030 0.6905 0.6391 0.53 0.28 0.67 0.48 0.4 rs6280 COSM4157142 1(thyroid);1(upper_aerodigestive_tract) other|other|Likely benign Schizophrenia\x2c_susceptibility_to|Essential_tremor\x2c_susceptibility_to|Hereditary_Essential_Tremor RCV000018257.2|RCV000018258.2|RCV000381906.1 MedGen C0393615 . . . . . . 1.0 0.020 T 0.0 0.026 B 0.0 0.013 B 0.369 0.136 N 1 0.090 P . . . -0.56 0.712 T 0.98 0.020 N 0.054 0.036 -0.929 0.444 T 0.000 0.000 T . . . 0.114 0.105 3.761 0.822 0.136 0.004 0.019 N c -1.188 -1.198 0.003 0.099 0.497 0.185 0 -1.48 0.082 -0.471 0.067 -0.846 0.029 0.000 0.063 0.392 0.253 9.571 0.384 . ENSG00000163611.7 Liver 0.6288 0.2651 0.5490 0.7251 0.6949 0.6731 0.6793 0.6595 0.5933 0.5586 0.2618 0.5859 0.7616 0.6904 0.6674 0.6812 0.6327 hom 610.77 19 3 113890815 . C T 610.77 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.15;VQSLOD=14.3724;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:54.16:644,54,0 3 113955164 113955164 T G exonic ZNF80 nonsynonymous SNV ZNF80:NM_007136:exon1:c.A758C:p.D253A 0.69 0.85 0.6 0.55 0.68 0.71 0.6567 0.8129 0.6008 0.5370 0.6762 0.6436 0.6685 0.7049 0.7 0.8 0.64 0.74 0.53 rs3732782 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.625 0.004 N 2.6 0.132 T 5.01 0.000 N 0.034 0.014 -1.005 0.283 T 0.000 0.000 T . . . -0.779 0.041 0.048 0.846 0.149 0.006 0.025 N c -1.462 -1.401 0.027 0.138 0.497 0.185 0 2.14 0.264 -2.625 0.009 -0.398 0.063 0.000 0.063 0.322 0.241 5.674 0.169 Zinc finger C2H2-type/integrase DNA-binding domain . . 0.6519 0.8159 0.6025 0.7375 0.5317 0.6778 0.6350 0.6668 0.7041 0.6894 0.8064 0.6098 0.6921 0.5266 0.6801 0.6457 0.6833 het 1022.51 81 3 113955164 . T G 1022.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.524;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9937;MQ=58.55;MQ0=0;MQRankSum=0.722;QD=12.62;ReadPosRankSum=-1.184;VQSLOD=6.0340;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,40:81:99:1053,0,999 3 113955265 113955265 G A exonic ZNF80 synonymous SNV ZNF80:NM_007136:exon1:c.C657T:p.C219C 0.69 0.85 0.6 0.54 0.68 0.71 0.6566 0.8129 0.6006 0.5367 0.6762 0.6440 0.6685 0.7022 0.7 0.8 0.64 0.74 0.62 rs6438190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6519 0.8159 0.6026 0.7396 0.5317 0.6781 0.6353 0.6660 0.7027 0.6894 0.8063 0.6112 0.6867 0.5267 0.6798 0.6457 0.6852 het 1476.82 142 3 113955265 . G A 1476.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.076;DP=142;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=0.9933;MQ=58.66;MQ0=1;MQRankSum=2.274;QD=10.40;ReadPosRankSum=-0.156;VQSLOD=5.7537;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,61:142:99:1507,0,2260 3 113955320 113955320 C T exonic ZNF80 nonsynonymous SNV ZNF80:NM_007136:exon1:c.G602A:p.R201H 0.69 0.85 0.6 0.54 0.68 0.71 0.6566 0.8126 0.6010 0.5367 0.6762 0.6440 0.6685 0.7021 0.7 0.8 0.64 0.74 0.63 rs6438191 . . . . . . . . . . . . . 0.312 0.139 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.895 0.505 L 3.1 0.083 T -1.83 0.429 N 0.032 0.012 -1.087 0.060 T 0.000 0.000 T . . . 1.400 0.231 12.79 0.835 0.142 0.003 0.016 N c -1.266 -1.328 0.018 0.131 0.516 0.203 0 0.351 0.152 -2.418 0.011 -0.309 0.079 0.000 0.063 0.011 0.114 0.244 0.002 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.6519 0.8157 0.6026 0.7395 0.5316 0.6781 0.6353 0.6659 0.7026 0.6900 0.8068 0.6112 0.6879 0.5273 0.6799 0.6465 0.6857 het 1872.28 177 3 113955320 . C T 1872.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.281;DP=177;Dels=0.00;FS=1.213;HRun=0;HaplotypeScore=14.5113;MQ=59.23;MQ0=0;MQRankSum=0.556;QD=10.58;ReadPosRankSum=0.553;VQSLOD=2.5595;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,74:177:99:1902,0,2785 3 113955820 113955820 G C exonic ZNF80 synonymous SNV ZNF80:NM_007136:exon1:c.C102G:p.S34S 0.31 0.36 0.26 0.38 0.27 0.26 0.2766 0.3544 0.2474 0.3709 0.2722 0.2596 0.2963 0.2682 0.29 0.34 0.26 0.27 0.34 rs3732780 COSM4880446 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2746 0.3555 0.2431 0.2971 0.3657 0.2760 0.2577 0.2910 0.2675 0.2946 0.3466 0.2524 0.2947 0.3572 0.2763 0.2650 0.2831 het 2281.95 161 3 113955820 . G C 2281.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.277;DP=161;Dels=0.00;FS=1.391;HRun=0;HaplotypeScore=2.9427;MQ=59.43;MQ0=0;MQRankSum=2.071;QD=14.17;ReadPosRankSum=-1.090;VQSLOD=5.4808;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,81:161:99:2312,0,2211 3 118649060 118649060 G T exonic IGSF11 nonsynonymous SNV IGSF11:NM_001015887:exon2:c.C115A:p.P39T,IGSF11:NM_152538:exon4:c.C112A:p.P38T 0.86 0.98 0.87 0.8 0.76 0.86 0.8216 0.9586 0.8944 0.7790 0.8144 0.7818 0.7808 0.8725 0.84 0.95 0.78 0.84 0.81 rs2903250 . . . . . . . . . . . . . 1.0 0.022 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.204 P -1.53 0.005 N 0.05 0.619 T 2.51 0.002 N 0.027 0.009 -0.944 0.420 T 0.000 0.000 T . . . 1.469 0.239 13.15 0.230 0.010 0.343 0.248 N c -0.783 -0.475 0.298 0.192 0.638 0.428 0 5.27 0.737 2.771 0.471 0.152 0.238 1.000 0.715 0.985 0.512 7.294 0.254 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000144847.8 Nerve_Tibial 0.8221 0.9593 0.8846 0.7247 0.7840 0.8128 0.7891 0.7879 0.8710 0.8433 0.9547 0.8882 0.7351 0.8005 0.8116 0.7918 0.8153 hom 5397 180 3 118649060 . G T 5397 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3365;MQ=58.94;MQ0=0;QD=29.98;VQSLOD=8.9665;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:5396,436,0 3 118866376 118866376 C T exonic C3orf30 nonsynonymous SNV C3orf30:NM_152539:exon1:c.C1340T:p.S447L 0.18 0.017 0.24 0.24 0.32 0.15 0.2585 0.0575 0.2557 0.2518 0.2390 0.3149 0.2871 0.1673 0.23 0.067 0.31 0.16 0.25 rs56317615 COSM3759633 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.124 0.274 T 0.99 0.615 D 0.808 0.567 P 0.158 0.178 N 1 0.090 P 1.245 0.315 L 2.58 0.134 T -2.03 0.466 N 0.113 0.437 -1.041 0.171 T 0.000 0.000 T . . . 1.150 0.205 11.48 0.633 0.070 0.042 0.096 N c -0.180 -0.356 0.893 0.259 0.487 0.133 0 3.62 0.405 0.558 0.230 0.920 0.431 0.000 0.063 0.001 0.043 8.404 0.316 . . . 0.2630 0.0542 0.2577 0.4039 0.2493 0.2467 0.3105 0.3076 0.1667 0.2300 0.0646 0.2566 0.4667 0.2612 0.2519 0.3098 0.2551 hom 2935.48 90 3 118866376 . C T 2935.48 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=58.71;MQ0=0;QD=32.62;VQSLOD=8.7978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2968,247,0 3 118909159 118909159 A G exonic UPK1B nonsynonymous SNV UPK1B:NM_006952:exon4:c.A338G:p.Q113R 0.92 0.89 0.92 0.93 0.97 0.87 0.9435 0.9221 0.9041 0.9213 0.9893 0.9670 0.9482 0.8824 0.95 0.92 0.97 0.88 0.98 rs9840317 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.370 N 1.000 0.090 P -0.65 0.021 N -1.05 0.767 T 2.0 0.013 N 0.03 0.210 -0.944 0.420 T 0.000 0.000 T . . . 0.830 0.173 9.649 0.852 0.152 0.048 0.104 N c -0.729 -0.469 1.000 0.517 0.487 0.133 0 4.57 0.557 2.715 0.466 0.076 0.183 0.998 0.411 0.992 0.562 6.345 0.204 . . . 0.9447 0.9217 0.9113 0.9480 0.9281 0.9879 0.9681 0.9465 0.8840 0.9554 0.9242 0.9165 0.9437 0.9414 0.9897 0.9698 0.9491 hom 5134.94 181 3 118909159 . A G 5134.94 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=59.10;MQ0=0;QD=28.37;VQSLOD=7.8883;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5134,394,0 3 118948716 118948716 G A exonic B4GALT4 synonymous SNV B4GALT4:NM_003778:exon3:c.C231T:p.C77C,B4GALT4:NM_212543:exon4:c.C231T:p.C77C 0.19 0.038 0.31 0.25 0.3 0.16 0.2552 0.0736 0.3282 0.2409 0.2149 0.2908 0.2907 0.1967 0.22 0.078 0.3 0.11 0.28 rs4422294 COSM149450 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2606 0.0722 0.3266 0.2756 0.2410 0.2137 0.2939 0.2881 0.1972 0.2159 0.0784 0.3337 0.2815 0.2457 0.2188 0.2805 0.2714 het 806.60 97 3 118948716 . G A 806.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.019;DP=97;Dels=0.00;FS=2.722;HRun=0;HaplotypeScore=1.9980;MQ=58.37;MQ0=0;MQRankSum=1.125;QD=8.32;ReadPosRankSum=-0.004;VQSLOD=4.8207;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,37:97:99:837,0,1509 3 119118104 119118104 A G exonic ARHGAP31 synonymous SNV ARHGAP31:NM_020754:exon9:c.A1065G:p.V355V 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1.0000 1 0.9999 . . . 1. 1. rs4688001 COSM4594499 1(upper_aerodigestive_tract) Benign Adams-Oliver_syndrome RCV000372854.1 MedGen:SNOMED_CT C0265268:34748004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1.0000 1 0.9999 1 1 1 1 1 1 1 1 hom 3167.99 105 3 119118104 . A G 3167.99 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=30.17;VQSLOD=8.5360;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3201,241,0 3 119128398 119128398 G A exonic ARHGAP31 synonymous SNV ARHGAP31:NM_020754:exon11:c.G1701A:p.P567P 0.19 0.09 0.092 0.37 0.16 0.23 0.1706 0.1146 0.1099 0.3340 0.1142 0.1709 0.1393 0.1844 0.16 0.12 0.18 0.12 0.2 rs2305249 COSM149451 1(stomach);1(thyroid) Benign Adams-Oliver_syndrome RCV000399946.1 MedGen:SNOMED_CT C0265268:34748004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1687 0.1124 0.1068 0.1435 0.3359 0.1196 0.1771 0.1557 0.1861 0.1592 0.1174 0.1199 0.1325 0.3319 0.1274 0.1747 0.1626 het 464.56 55 3 119128398 . G A 464.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.336;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9536;MQ=60.00;MQ0=0;MQRankSum=-0.451;QD=8.45;ReadPosRankSum=0.204;VQSLOD=5.5386;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,19:55:99:495,0,958 3 119133183 119133183 G A exonic ARHGAP31 nonsynonymous SNV ARHGAP31:NM_020754:exon12:c.G2407A:p.G803S 0.85 0.93 0.76 0.85 0.79 0.86 0.8083 0.9178 0.7182 0.8667 0.8417 0.7847 0.7922 0.8586 0.83 0.92 0.79 0.92 0.68 rs3732413 COSM4157154 1(thyroid) Benign|Benign Adams-Oliver_syndrome|not_specified RCV000273195.1|RCV000454849.1 MedGen:SNOMED_CT|MedGen C0265268:34748004|CN169374 . . . . . . 0.818 0.030 T 0.0 0.026 B 0.0 0.013 B 0.994 0.080 N 1 0.090 P 0.65 0.162 N 3.49 0.051 T -0.15 0.093 N 0.017 0.003 -0.977 0.357 T 0.000 0.000 T . . . -0.662 0.047 0.088 0.335 0.020 0.004 0.019 N c -2.054 -2.139 1.000 0.747 0.707 0.730 0 -10.1 0.003 -2.341 0.012 -0.822 0.031 0.000 0.063 0.001 0.043 8.790 0.338 . . . 0.8053 0.9177 0.7290 0.7065 0.8685 0.8432 0.7897 0.7881 0.8612 0.8353 0.9112 0.7494 0.7367 0.8646 0.8377 0.7942 0.8361 hom 4378.45 136 3 119133183 . G A 4378.45 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;QD=32.19;VQSLOD=9.7684;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4378,337,0 3 119150836 119150836 C T exonic TMEM39A nonsynonymous SNV TMEM39A:NM_018266:exon9:c.G1459A:p.A487T 0.089 0.0083 0.066 0.072 0.14 0.17 0.1227 0.0287 0.0609 0.0792 0.1022 0.1533 0.1011 0.1339 0.12 0.036 0.16 0.054 0.18 rs1132200 COSM4157156 5(soft_tissue);1(thyroid) . . . . . . . . . . . 0.033 0.443 D 0.043 0.202 B 0.027 0.198 B 0.020 0.270 N 0.026 0.391 P 0.69 0.170 N 0.82 0.481 T -0.26 0.112 N 0.139 0.162 -1.102 0.038 T 0.000 0.001 T . . . 3.487 0.477 23.1 0.997 0.822 0.886 0.483 D c -0.113 0.128 0.992 0.327 0.707 0.730 0 5.65 0.868 4.419 0.593 0.935 0.490 1.000 0.715 1.000 0.888 14.482 0.670 . ENSG00000163389.6|ENSG00000163389.6 Artery_Tibial|Cells_Transformed_fibroblasts 0.1215 0.0263 0.0634 0.1137 0.0840 0.1052 0.1585 0.1209 0.1321 0.1088 0.0333 0.0827 0.1159 0.0805 0.1069 0.1560 0.1339 het 336.49 24 3 119150836 . C T 336.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.610;DP=24;Dels=0.00;FS=2.114;HRun=0;HaplotypeScore=2.5968;MQ=55.96;MQ0=0;MQRankSum=0.954;QD=14.02;ReadPosRankSum=0.000;VQSLOD=3.2190;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,15:24:99:366,0,251 3 119222456 119222456 G C exonic TIMMDC1 synonymous SNV TIMMDC1:NM_016589:exon3:c.G438C:p.V146V 0.21 0.17 0.099 0.36 0.16 0.22 0.2088 0.2234 0.1390 0.3518 0.1343 0.2067 0.1630 0.2018 0.19 0.21 0.18 0.12 0.15 rs1131265 COSM149452 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1756 0.2006 0.1081 0.1511 0.3297 0.1185 0.1820 0.1572 0.1795 0.1874 0.2077 0.1301 0.1424 0.3306 0.1280 0.1791 0.1735 het 239.91 22 3 119222456 . G C 239.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.591;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=57.20;MQ0=0;MQRankSum=1.839;QD=10.91;ReadPosRankSum=-0.788;VQSLOD=5.8054;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,11:22:99:270,0,265 3 119256056 119256056 T C exonic CD80 nonsynonymous SNV CD80:NM_005191:exon4:c.A628G:p.T210A 0.0056 0.0008 0.0058 . 0.017 0.0061 0.0101 0.0021 0.0026 0 0.0183 0.0131 0.0110 0.0104 0.01 0.003 0.014 . 0.016 rs62264488 COSM3759636 1(large_intestine) . . . . . . . . . . . 0.202 0.202 T 0.002 0.119 B 0.005 0.145 B 0.089 0.024 N 1 0.090 N 0.55 0.145 N 2.6 0.132 T -1.08 0.336 N 0.025 0.030 -1.024 0.225 T 0.011 0.041 T . . . -0.815 0.040 0.040 0.699 0.088 0.025 0.070 N c -1.091 -1.093 0.005 0.109 0.707 0.730 0 1.14 0.197 0.176 0.165 0.088 0.194 0.000 0.063 0.016 0.126 0.908 0.012 CD80-like\x2c immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.0110 0.0021 0.0031 0.0113 0 0.0187 0.0147 0.0093 0.0110 0.0129 0.0040 0.0024 0.0099 0 0.0223 0.0175 0.0193 het 2296.70 200 3 119256056 . T C 2296.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.961;DP=200;DS;Dels=0.00;FS=5.020;HRun=0;HaplotypeScore=3.8322;MQ=59.51;MQ0=0;MQRankSum=0.820;QD=11.48;ReadPosRankSum=-0.086;VQSLOD=4.6193;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,85:200:99:2327,0,3078 3 119263680 119263680 C T exonic CD80 synonymous SNV CD80:NM_005191:exon3:c.G135A:p.V45V 0.22 0.17 0.21 0.27 0.26 0.21 0.2518 0.1815 0.1986 0.3057 0.2739 0.2656 0.2704 0.2396 0.23 0.19 0.25 0.21 0.25 rs2228017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2483 0.1816 0.2011 0.2607 0.3036 0.2776 0.2581 0.2658 0.2382 0.2306 0.1773 0.2243 0.2583 0.2969 0.2678 0.2441 0.2531 het 1128.05 77 3 119263680 . C T 1128.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.884;DP=77;Dels=0.00;FS=1.068;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.202;QD=14.65;ReadPosRankSum=0.605;VQSLOD=6.3647;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,45:77:99:1158,0,938 3 119367390 119367390 T C exonic POPDC2 synonymous SNV POPDC2:NM_001308333:exon3:c.A726G:p.S242S,POPDC2:NM_022135:exon3:c.A726G:p.S242S 0.94 0.8 0.98 1. 1. 1. 0.9841 0.8274 0.9923 0.9997 1 0.9994 0.9945 0.9998 0.95 0.84 1. 0.88 0.97 rs2688643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9877 0.8280 0.9917 0.9991 0.9998 1 0.9994 0.9949 0.9998 0.9522 0.8334 0.9940 1 1 1 0.9993 0.9888 hom 3567.09 115 3 119367390 . T C 3567.09 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=59.13;MQ0=0;QD=31.02;VQSLOD=9.4787;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3566,289,0 3 119378872 119378872 G A exonic POPDC2 synonymous SNV POPDC2:NM_001308333:exon1:c.C399T:p.C133C,POPDC2:NM_022135:exon1:c.C399T:p.C133C 0.4 0.29 0.46 0.33 0.43 0.55 0.4503 0.3175 0.4797 0.3474 0.5301 0.4522 0.4747 0.5263 0.4 0.32 0.44 0.49 0.45 rs1880040 COSM3759639;COSM3759638 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4532 0.3206 0.4801 0.3651 0.3443 0.5268 0.4535 0.4530 0.5246 0.4243 0.3179 0.4833 0.3113 0.3401 0.5355 0.4643 0.4846 het 3011.55 234 3 119378872 . G A 3011.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.668;DP=234;DS;Dels=0.00;FS=4.535;HRun=0;HaplotypeScore=10.1117;MQ=59.12;MQ0=0;MQRankSum=1.613;QD=12.87;ReadPosRankSum=0.954;VQSLOD=4.0658;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,118:234:99:3042,0,2949 3 119378977 119378977 G A exonic POPDC2 synonymous SNV POPDC2:NM_001308333:exon1:c.C294T:p.R98R,POPDC2:NM_022135:exon1:c.C294T:p.R98R 0.084 0.017 0.095 0.001 0.16 0.17 0.1554 0.0340 0.0715 0.0013 0.2015 0.1956 0.1608 0.1904 0.14 0.037 0.19 0.054 0.2 rs2873788 COSM3759641;COSM3759640 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1560 0.0329 0.0752 0.2236 0.0014 0.1992 0.1960 0.1717 0.1916 0.1432 0.0374 0.0835 0.2086 0 0.1959 0.2053 0.2168 het 1889.86 125 3 119378977 . G A 1889.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.595;DP=125;Dels=0.00;FS=3.353;HRun=0;HaplotypeScore=3.9314;MQ=59.43;MQ0=0;MQRankSum=0.997;QD=15.12;ReadPosRankSum=-0.510;VQSLOD=5.7234;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,68:125:99:1920,0,1648 3 119379186 119379186 C T exonic POPDC2 nonsynonymous SNV POPDC2:NM_001308333:exon1:c.G85A:p.V29I,POPDC2:NM_022135:exon1:c.G85A:p.V29I 0.4 0.29 0.46 0.33 0.43 0.55 0.4499 0.3203 0.4791 0.3447 0.5294 0.4517 0.4746 0.5259 0.4 0.32 0.44 0.49 0.38 rs4688023 COSM3759642;COSM3759643 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.967 0.032 T 0.026 0.181 B 0.015 0.162 B 0.574 0.055 N 1 0.090 P 0.99 0.251 L 1.08 0.394 T 0.1 0.058 N 0.029 0.045 -0.947 0.414 T 0.000 0.000 T . . . -1.324 0.021 0.004 0.526 0.047 0.143 0.181 N c -1.360 -1.350 1.000 0.747 0.421 0.056 0 -5.63 0.023 -0.412 0.071 -0.444 0.057 0.000 0.063 0.895 0.377 10.922 0.462 . ENSG00000183833.12|ENSG00000121577.9|ENSG00000183833.12|ENSG00000121577.9|ENSG00000138495.2|ENSG00000121577.9|ENSG00000183833.12|ENSG00000121577.9|ENSG00000121577.9|ENSG00000121577.9|ENSG00000121577.9|ENSG00000183833.12|ENSG00000138495.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Spleen|Thyroid|Thyroid|Thyroid 0.4531 0.3232 0.4796 0.3650 0.3434 0.5267 0.4534 0.4520 0.5244 0.4250 0.3201 0.4833 0.3113 0.3387 0.5356 0.4644 0.4857 het 1386.99 94 3 119379186 . C T 1386.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.544;DP=94;Dels=0.00;FS=0.807;HRun=0;HaplotypeScore=1.7333;MQ=60.00;MQ0=0;MQRankSum=-0.236;QD=14.76;ReadPosRankSum=1.898;VQSLOD=5.8991;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,53:94:99:1417,0,1085 3 119426307 119426307 T C exonic MAATS1 synonymous SNV MAATS1:NM_001320317:exon2:c.T72C:p.Y24Y,MAATS1:NM_001320316:exon3:c.T198C:p.Y66Y,MAATS1:NM_033364:exon3:c.T258C:p.Y86Y 0.59 0.18 0.64 0.81 0.73 0.72 0.6802 0.2579 0.6508 0.8049 0.6786 0.7201 0.6976 0.7390 0.57 0.26 0.72 0.41 0.76 rs9848716 COSM4417961;COSM4417960 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6890 0.2532 0.6519 0.7383 0.8071 0.6856 0.7234 0.7131 0.7370 0.5954 0.2645 0.6415 0.7219 0.8146 0.6838 0.7319 0.7027 hom 2536.66 89 3 119426307 . T C 2536.66 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9717;MQ=59.74;MQ0=0;QD=28.50;VQSLOD=7.6585;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:89:99:2570,193,0 3 119434527 119434527 G C exonic MAATS1 nonsynonymous SNV MAATS1:NM_001320318:exon4:c.G241C:p.A81P,MAATS1:NM_001320317:exon5:c.G433C:p.A145P,MAATS1:NM_001320316:exon6:c.G559C:p.A187P,MAATS1:NM_033364:exon6:c.G619C:p.A207P 0.91 0.67 0.98 1. 1. 1. 0.9727 0.7015 0.9877 1 1 0.9992 0.9923 0.9996 0.9 0.71 1. 0.87 0.99 rs6438544 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.999 0.213 P -2.75 0.000 N 2.5 0.144 T 7.04 0.000 N 0.406 0.464 -0.939 0.428 T 0.000 0.000 T . . . 1.731 0.269 14.58 0.533 0.048 0.047 0.103 N c -0.876 -0.526 0.510 0.210 0.638 0.428 0 5.32 0.753 3.497 0.528 -0.015 0.131 1.000 0.715 0.997 0.653 15.823 0.784 MAATS1 domain . . 0.9785 0.6949 0.9869 0.9971 1 1 0.9992 0.9909 0.9995 0.9133 0.6966 0.9845 0.9967 1 1 0.9991 0.9827 hom 5435.59 159 3 119434527 . G C 5435.59 Mask AC=2;AF=1.00;AN=2;DP=159;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;QD=34.19;VQSLOD=9.3407;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5435,430,0 3 119533910 119533910 T C exonic NR1I2 synonymous SNV NR1I2:NM_003889:exon6:c.T879C:p.N293N,NR1I2:NM_022002:exon6:c.T996C:p.N332N,NR1I2:NM_033013:exon6:c.T768C:p.N256N 1. 1. 1. 1. 1. 1. 0.9999 0.9994 0.9999 1 1 0.9999 1 0.9998 1. 1. 1. 1. 1. rs4058490 COSM4157158 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9993 1.0000 1 1 1 1.0000 1 0.9998 0.9999 0.9997 1 1 1 1 1 1 hom 3223.52 105 3 119533910 . T C 3223.52 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.34;MQ0=0;QD=30.70;VQSLOD=9.0142;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3257,271,0 3 119886548 119886548 G C exonic GPR156 synonymous SNV GPR156:NM_001168271:exon9:c.C1764G:p.L588L,GPR156:NM_153002:exon9:c.C1776G:p.L592L 0.9 0.88 0.93 0.93 0.93 0.86 0.9138 0.8802 0.9678 0.9171 0.9386 0.9186 0.9256 0.8644 0.9 0.88 0.92 0.88 0.88 rs9858566 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9162 0.8816 0.9606 0.9220 0.9146 0.9391 0.9172 0.9235 0.8618 0.9007 0.8765 0.9618 0.9305 0.9135 0.9345 0.9013 0.9033 het 1489.30 94 3 119886548 . G C 1489.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.535;DP=94;Dels=0.00;FS=2.713;HRun=2;HaplotypeScore=0.7887;MQ=59.66;MQ0=0;MQRankSum=0.072;QD=15.84;ReadPosRankSum=-0.004;VQSLOD=5.8952;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,50:94:99:1519,0,1173 3 119886776 119886776 T A exonic GPR156 nonsynonymous SNV GPR156:NM_001168271:exon9:c.A1536T:p.E512D,GPR156:NM_153002:exon9:c.A1548T:p.E516D 0.9 0.88 0.93 0.93 0.93 0.86 0.9130 0.8814 0.9675 0.9168 0.9386 0.9185 0.9240 0.8595 0.9 0.88 0.92 0.88 0.87 rs902790 COSM4157159 1(thyroid) . . . . . . . . . . . 0.816 0.031 T 0.0 0.026 B 0.0 0.013 B 0.071 0.022 N 1 0.090 P -0.805 0.016 N 2.02 0.211 T -0.12 0.088 N 0.013 0.003 -0.989 0.329 T 0.000 0.000 T . . . -1.563 0.015 0.002 0.221 0.009 0.007 0.030 N c -1.820 -1.742 1.000 0.409 0.554 0.283 0 0.369 0.153 -0.782 0.047 -0.637 0.042 0.000 0.063 0.000 0.016 0.406 0.004 . . . 0.9156 0.8829 0.9606 0.9218 0.9145 0.9390 0.9173 0.9230 0.8569 0.9009 0.8772 0.9618 0.9305 0.9134 0.9347 0.9013 0.9039 het 2957.04 244 3 119886776 . T A 2957.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.807;DP=244;Dels=0.00;FS=2.178;HRun=0;HaplotypeScore=6.7398;MQ=59.23;MQ0=0;MQRankSum=0.597;QD=12.12;ReadPosRankSum=-0.061;VQSLOD=5.0481;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,116:244:99:2987,0,3634 3 120352003 120352003 A G exonic HGD synonymous SNV HGD:NM_000187:exon13:c.T1179C:p.D393D 0.0068 . 0.01 . 0.012 0.015 0.0108 0.0020 0.0038 0.0005 0.0049 0.0122 0.0078 0.0232 0.011 0.003 0.015 . 0.016 rs146482816 COSM3759644 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0111 0.0018 0.0041 0.0229 0.0003 0.0043 0.0132 0.0095 0.0233 0.0078 0.0031 0.0107 0.0132 0 0.0043 0.0115 0.0132 het 1115.10 76 3 120352003 . A G 1115.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.672;DP=76;Dels=0.00;FS=3.747;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;MQRankSum=1.205;QD=14.67;ReadPosRankSum=1.142;VQSLOD=4.3593;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,45:76:99:1145,0,845 3 120389316 120389316 T A exonic HGD nonsynonymous SNV HGD:NM_000187:exon4:c.A240T:p.Q80H 0.73 0.78 0.81 0.64 0.77 0.66 0.7353 0.7628 0.8070 0.6559 0.7241 0.7400 0.7324 0.6952 0.74 0.76 0.74 0.74 0.75 rs2255543 . . Benign|Benign not_specified|Alkaptonuria RCV000252512.1|RCV000306096.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0002066:203500:ORPHA56 . . . . . . 0.762 0.035 T 0.0 0.026 B 0.0 0.013 B 0.001 0.420 N 1 0.090 P -1.1 0.010 N -5.18 0.988 D 1.23 0.010 N 0.039 0.019 -0.937 0.432 T 0.000 0.000 T . . . 0.241 0.117 5.100 0.694 0.087 0.012 0.041 N c -1.281 -1.194 0.092 0.161 0.554 0.246 0 -2.23 0.065 -0.227 0.091 0.242 0.267 0.000 0.063 0.984 0.507 3.441 0.070 RmlC-like cupin domain . . 0.7407 0.7610 0.8139 0.7750 0.6558 0.7255 0.7414 0.7466 0.6949 0.7389 0.7606 0.8146 0.8 0.6471 0.7246 0.7346 0.7311 hom 5205.27 176 3 120389316 . T A 5205.27 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8490;MQ=58.93;MQ0=0;QD=29.58;VQSLOD=8.4185;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5205,400,0 3 120500093 120500093 C T exonic GTF2E1 nonsynonymous SNV GTF2E1:NM_005513:exon5:c.C1096T:p.P366S 0.17 0.0091 0.33 0.49 0.039 0.072 0.1132 0.0161 0.4509 0.5056 0.0499 0.0366 0.0828 0.0694 0.031 0.016 0.039 0.13 0.033 rs3732401 COSM5653975 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.627 0.052 T 0.845 0.447 P 0.503 0.459 P 0.000 0.843 D 0.000 0.588 P 2.485 0.726 M 0.9 0.453 T -0.16 0.095 N 0.147 0.174 -0.942 0.424 T 0.000 0.000 T . . . 4.476 0.599 24.2 0.997 0.832 0.918 0.541 D c 0.463 0.512 1.0 0.983 0.731 0.878 0 5.12 0.693 5.337 0.655 0.935 0.490 1.000 0.715 0.906 0.385 13.469 0.606 Transcription factor TFIIE alpha subunit\x2c C-terminal . . 0.1294 0.0154 0.4288 0.0223 0.5105 0.0537 0.0385 0.0939 0.0698 0.0667 0.0172 0.3577 0.0265 0.4957 0.0510 0.0373 0.0714 het 2313.74 184 3 120500093 . C T 2313.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.333;DP=184;Dels=0.00;FS=3.466;HRun=1;HaplotypeScore=4.7708;MQ=59.51;MQ0=0;MQRankSum=-0.247;QD=12.57;ReadPosRankSum=0.526;VQSLOD=5.3565;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:93,91:184:99:2344,0,2467 3 120976051 120976051 C G exonic STXBP5L nonsynonymous SNV STXBP5L:NM_001308330:exon17:c.C1703G:p.T568S,STXBP5L:NM_001348343:exon17:c.C1703G:p.T568S,STXBP5L:NM_001348344:exon17:c.C1703G:p.T568S,STXBP5L:NM_001348345:exon17:c.C1703G:p.T568S,STXBP5L:NM_014980:exon17:c.C1703G:p.T568S 0.09 0.091 0.1 0.004 0.2 0.05 0.1411 0.1017 0.0834 0.0012 0.1707 0.1916 0.1403 0.0622 0.16 0.1 0.19 0.087 0.23 rs17249244 COSM4157161 1(thyroid) . . . . . . . . . . . 0.986 0.025 T 0.013 0.154 B 0.006 0.112 B 0.000 0.629 D 0.002 0.440 P -0.06 0.049 N 1.56 0.296 T -0.22 0.140 N 0.079 0.269 -1.058 0.122 T 0.000 0.000 T . . . 1.358 0.227 12.57 0.775 0.115 0.961 0.673 D c -0.327 -0.035 0.232 0.185 0.638 0.428 0 5.49 0.809 5.216 0.649 0.807 0.329 1.000 0.715 0.998 0.697 16.033 0.803 . . . 0.1396 0.0993 0.0886 0.1401 0.0013 0.1700 0.1956 0.1510 0.0654 0.1480 0.1030 0.0947 0.1424 0.0006 0.1735 0.1868 0.1541 het 1152.92 118 3 120976051 . C G 1152.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.626;DP=118;Dels=0.00;FS=3.547;HRun=0;HaplotypeScore=3.4017;MQ=59.01;MQ0=0;MQRankSum=1.566;QD=9.77;ReadPosRankSum=-0.792;VQSLOD=4.8144;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,50:118:99:1183,0,1802 3 121154974 121154974 T C exonic POLQ nonsynonymous SNV POLQ:NM_199420:exon28:c.A7538G:p.Q2513R 0.75 0.63 0.69 0.88 0.67 0.88 0.7217 0.6444 0.7117 0.8976 0.6837 0.6790 0.7357 0.8725 0.67 0.64 0.68 0.67 0.62 rs1381057 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.541 0.115 N 1 0.090 P -1.14 0.009 N 0.85 0.471 T 0.77 0.020 N 0.009 0.001 -0.965 0.382 T 0.000 0.000 T . . . -1.556 0.016 0.002 0.149 0.003 0.002 0.011 N c -1.592 -1.529 0.002 0.088 0.732 0.924 0 -0.307 0.121 -0.215 0.092 -1.003 0.022 0.000 0.063 0.086 0.183 7.627 0.272 DNA-directed DNA polymerase\x2c family A\x2c palm domain ENSG00000145087.8 Adrenal_Gland 0.7242 0.6438 0.7140 0.6890 0.9011 0.6839 0.6826 0.7042 0.8707 0.6799 0.6569 0.6957 0.6767 0.9017 0.7032 0.6616 0.7031 hom 4659.67 157 3 121154974 . T C 4659.67 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=59.04;MQ0=0;QD=29.68;VQSLOD=9.2578;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:4659,355,0 3 121208833 121208833 G C exonic POLQ nonsynonymous SNV POLQ:NM_199420:exon16:c.C2945G:p.T982R 0.7 0.54 0.63 0.88 0.61 0.85 0.6741 0.5598 0.6779 0.8964 0.6641 0.6282 0.6975 0.8222 0.6 0.55 0.63 0.58 0.51 rs3218649 COSM3759646 1(large_intestine) . . . . . . . . . . . 0.567 0.062 T 0.0 0.026 B 0.0 0.013 B 0.053 0.020 N 1 0.090 P -0.84 0.015 N 0.82 0.481 T -0.34 0.127 N 0.028 0.009 -1.009 0.273 T 0.000 0.000 T . . . -1.568 0.015 0.002 0.496 0.042 0.016 0.051 N c -1.743 -1.747 0.019 0.131 0.615 0.372 0 -3.86 0.039 -2.308 0.012 -2.693 0.002 0.000 0.063 0.006 0.095 8.791 0.338 . ENSG00000145087.8 Adrenal_Gland 0.6687 0.5542 0.6662 0.5710 0.8983 0.6576 0.6271 0.6453 0.8188 0.6272 0.5635 0.6376 0.5430 0.9020 0.6802 0.6208 0.6663 hom 1224.90 37 3 121208833 . G C 1224.90 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=33.11;VQSLOD=9.1240;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1258,99,0 3 121238749 121238749 G A exonic POLQ synonymous SNV POLQ:NM_199420:exon9:c.C1437T:p.G479G 1. 0.99 1. 1. 1. 1. 0.9995 0.9949 0.9996 1 1 0.9999 1 1 1. 1. 1. 1. 1. rs702018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9949 0.9997 0.9989 1 1 1.0000 0.9996 1.0000 0.9983 0.9940 1 1 1 1 1 0.9990 hom 7423.10 244 3 121238749 . G A 7423.10 Mask AC=2;AF=1.00;AN=2;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1879;MQ=59.26;MQ0=0;QD=30.42;VQSLOD=7.3439;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,242:244:99:7422,608,0 3 121263720 121263720 C A exonic POLQ nonsynonymous SNV POLQ:NM_199420:exon2:c.G197T:p.R66I 0.99 0.96 1. 1. 1. 1. 0.9964 0.9610 0.9983 1 1 0.9999 0.9989 0.9999 0.99 0.97 1. 0.98 0.99 rs702017 . . . . . . . . . . . . . 0.525 0.071 T 0.0 0.026 B 0.0 0.013 B 0.572 0.112 N 1 0.090 P -1.67 0.004 N 0.86 0.468 T 1.7 0.006 N 0.062 0.047 -0.988 0.332 T 0.000 0.000 T . . . 0.494 0.141 7.389 0.745 0.104 0.029 0.076 N c -1.479 -1.425 1.000 0.441 0.609 0.349 0 -2.11 0.068 0.333 0.194 -0.123 0.113 0.001 0.137 0.374 0.250 11.088 0.471 . . . 0.9973 0.9610 0.9987 0.9989 1 1 0.9999 0.9985 0.9999 0.9896 0.9637 0.9988 1 1 1 0.9999 0.9959 hom 2251.10 76 3 121263720 . C A 2251.10 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4417;MQ=59.20;MQ0=0;QD=29.62;VQSLOD=8.8329;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2284,178,0 3 121350966 121350966 C G exonic HCLS1 nonsynonymous SNV HCLS1:NM_001292041:exon12:c.G1195C:p.V399L,HCLS1:NM_005335:exon13:c.G1306C:p.V436L 1. 0.99 0.99 1. 1. 1. 0.9987 0.9878 0.9991 0.9999 1 0.9998 0.9967 1 1. 0.99 1. 0.98 0.97 rs9869984 COSM4157164;COSM4157163 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.445 N 1 0.090 P -2.005 0.002 N 1.57 0.293 T 1.99 0.004 N 0.097 0.130 -0.987 0.333 T 0.000 0.000 T . . . -0.192 0.077 1.140 0.607 0.064 0.014 0.046 N c -1.354 -1.134 0.237 0.185 0.722 0.854 0 3.01 0.337 0.070 0.143 0.073 0.181 0.093 0.224 0.733 0.317 5.478 0.159 SH3 domain . . 0.9990 0.9879 0.9992 0.9988 0.9998 1 0.9999 0.9983 0.9999 0.9960 0.9862 1 1 1 1 0.9998 0.9980 hom 4618.65 148 3 121350966 . C G 4618.65 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5452;MQ=59.30;MQ0=0;QD=31.21;VQSLOD=8.9131;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4618,367,0 3 121351315 121351315 - GGCTCAGGCTCA exonic HCLS1 nonframeshift insertion HCLS1:NM_001292041:exon11:c.992_993insTGAGCCTGAGCC:p.E338_N339insPEPE,HCLS1:NM_005335:exon12:c.1103_1104insTGAGCCTGAGCC:p.E375_N376insPEPE 0.24 0.16 0.16 0.46 0.25 0.18 . . . . . . . . . . . . . rs372720825 COSM5826193;COSM1745440 4(urinary_tract);6(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2210 0.1536 0.1647 0.26 0.4482 0.2037 0.2411 0.2381 het 6831.68 249 3 121351315 . G GGGCTCAGGCTCA 6831.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.536;DP=249;DS;FS=10.642;HRun=0;HaplotypeScore=2376.3540;MQ=54.41;MQ0=0;MQRankSum=-3.807;QD=27.33;ReadPosRankSum=-0.817;set=variant2 GT:AD:DP:GQ:PL 0/1:198,36:249:99:6832,0,7789 3 121353254 121353254 T C exonic HCLS1 nonsynonymous SNV HCLS1:NM_001292041:exon9:c.A592G:p.T198A,HCLS1:NM_005335:exon10:c.A703G:p.T235A 0.65 0.57 0.48 0.85 0.75 0.58 0.6997 0.6124 0.3993 0.8494 0.7425 0.7605 0.7219 0.6223 0.71 0.62 0.76 0.63 0.73 rs2070179 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.843 N 0.999 0.215 P -2.035 0.002 N 2.25 0.178 T 0.75 0.020 N 0.044 0.037 -0.986 0.337 T 0.000 0.000 T . . . 0.929 0.183 10.25 0.875 0.167 0.050 0.106 N c -0.752 -0.449 0.996 0.346 0.707 0.730 0 5.29 0.743 2.002 0.402 0.040 0.155 1.000 0.715 0.998 0.697 10.007 0.409 . ENSG00000180353.6 Esophagus_Muscularis 0.6895 0.6144 0.4133 0.7282 0.8516 0.7434 0.7611 0.7277 0.6230 0.7096 0.6134 0.4748 0.6867 0.8443 0.7421 0.7561 0.7244 hom 4456.83 138 3 121353254 . T C 4456.83 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8392;MQ=59.28;MQ0=0;QD=32.30;VQSLOD=9.6645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4456,346,0 3 121354583 121354583 G A exonic HCLS1 synonymous SNV HCLS1:NM_001292041:exon8:c.C579T:p.A193A,HCLS1:NM_005335:exon9:c.C690T:p.A230A 0.22 0.051 0.16 0.48 0.25 0.19 0.2303 0.0730 0.1310 0.4564 0.2020 0.2486 0.2511 0.2172 0.19 0.075 0.25 0.18 0.25 rs3772126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2296 0.0708 0.1375 0.2897 0.4686 0.2059 0.2434 0.2597 0.2175 0.2029 0.0797 0.1611 0.2649 0.4721 0.2066 0.2441 0.2311 het 2840.08 214 3 121354583 . G A 2840.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.812;DP=214;Dels=0.00;FS=2.334;HRun=0;HaplotypeScore=3.3760;MQ=58.52;MQ0=0;MQRankSum=0.305;QD=13.27;ReadPosRankSum=-0.349;VQSLOD=5.1891;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,105:214:99:2870,0,2697 3 121414061 121414061 C T exonic GOLGB1 nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.G5069A:p.G1690D,GOLGB1:NM_001256486:exon13:c.G5309A:p.G1770D,GOLGB1:NM_001256487:exon13:c.G5192A:p.G1731D,GOLGB1:NM_004487:exon13:c.G5294A:p.G1765D 0.25 0.16 0.16 0.48 0.25 0.19 0.2393 0.1646 0.1347 0.4613 0.2021 0.2490 0.2555 0.2182 0.22 0.16 0.25 0.25 0.25 rs1127412 COSM4157167 1(thyroid) . . . . . . . . . . . 0.674 0.045 T 0.001 0.067 B 0.001 0.040 B 0.021 0.015 N 1 0.090 P -0.485 0.027 N 2.62 0.130 T 0.49 0.030 N 0.021 0.092 -0.934 0.436 T 0.000 0.000 T . . . -1.944 0.009 0.001 0.576 0.057 0.013 0.044 N c -1.598 -1.668 1.000 0.747 0.732 0.924 0 -9.92 0.004 -0.329 0.079 -1.806 0.007 0.000 0.063 0.004 0.083 1.586 0.025 Leucine zipper\x2c homeobox-associated ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000145088.4|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173230.11|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.2370 0.1663 0.1415 0.2882 0.4745 0.2064 0.2440 0.2640 0.2182 0.2318 0.1786 0.1655 0.2633 0.4826 0.2069 0.2441 0.2393 het 2038.50 190 3 121414061 . C T 2038.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.984;DP=190;DS;Dels=0.00;FS=2.895;HRun=0;HaplotypeScore=1.7206;MQ=59.14;MQ0=0;MQRankSum=0.552;QD=10.73;ReadPosRankSum=0.531;VQSLOD=6.6572;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:109,81:190:99:2068,0,3177 3 121415610 121415610 G A exonic GOLGB1 nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.C3520T:p.P1174S,GOLGB1:NM_001256486:exon13:c.C3760T:p.P1254S,GOLGB1:NM_001256487:exon13:c.C3643T:p.P1215S,GOLGB1:NM_004487:exon13:c.C3745T:p.P1249S 0.15 0.13 0.14 0.092 0.28 0.094 0.2172 0.1452 0.1124 0.0839 0.3177 0.2819 0.2192 0.1037 0.24 0.15 0.29 0.17 0.2 rs33988592 COSM4002414 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.135 0.282 T 0.006 0.126 B 0.005 0.104 B 0.331 0.141 N 1 0.090 P 1.655 0.426 L 2.56 0.225 T -0.39 0.197 N 0.183 0.223 -0.951 0.408 T 0.000 0.000 T . . . -0.896 0.036 0.026 0.339 0.020 0.101 0.155 N c -0.886 -0.900 0.765 0.236 0.707 0.730 0 1.91 0.247 -0.102 0.108 1.048 0.713 0.000 0.063 0.043 0.159 2.429 0.042 . ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000163406.6|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173230.11|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.2155 0.1468 0.1162 0.2033 0.0823 0.3180 0.2859 0.2189 0.1060 0.2266 0.1453 0.1384 0.1954 0.0815 0.3131 0.2740 0.2398 het 1052.14 84 3 121415610 . G A 1052.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.194;DP=84;Dels=0.00;FS=3.233;HRun=0;HaplotypeScore=2.4088;MQ=58.16;MQ0=0;MQRankSum=-1.318;QD=12.53;ReadPosRankSum=0.929;VQSLOD=4.3986;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,40:84:99:1082,0,1313 3 121415720 121415720 T C exonic GOLGB1 nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.A3410G:p.Y1137C,GOLGB1:NM_001256486:exon13:c.A3650G:p.Y1217C,GOLGB1:NM_001256487:exon13:c.A3533G:p.Y1178C,GOLGB1:NM_004487:exon13:c.A3635G:p.Y1212C 0.22 0.052 0.16 0.48 0.25 0.19 0.2311 0.0738 0.1317 0.4615 0.2021 0.2488 0.2511 0.2180 0.19 0.074 0.25 0.2 0.25 rs3732410 . . . . . . . . . . . . . 0.077 0.346 T 0.999 0.764 D 0.912 0.703 D 0.000 0.559 D 0.154 0.351 P 2.125 0.592 M 2.09 0.325 T -3.19 0.646 D 0.5 0.545 -0.897 0.483 T 0.000 0.000 T . . . 2.614 0.375 20.3 0.992 0.546 0.944 0.608 D c 0.338 0.366 0.999 0.382 0.707 0.730 0 4.59 0.561 1.949 0.397 1.061 0.807 1.000 0.715 0.121 0.196 10.852 0.458 . ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000145088.4|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173230.11|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.2304 0.0711 0.1382 0.2880 0.4747 0.2060 0.2438 0.2599 0.2182 0.2035 0.0806 0.1611 0.2616 0.4783 0.2068 0.2439 0.2327 het 4131.03 240 3 121415720 . T C 4131.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.039;DP=240;Dels=0.00;FS=0.471;HRun=0;HaplotypeScore=4.1402;MQ=59.23;MQ0=0;MQRankSum=1.804;QD=17.21;ReadPosRankSum=0.991;VQSLOD=5.1559;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,132:240:99:3559,0,2737 3 121416623 121416623 G C exonic GOLGB1 nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.C2507G:p.T836S,GOLGB1:NM_001256486:exon13:c.C2747G:p.T916S,GOLGB1:NM_001256487:exon13:c.C2630G:p.T877S,GOLGB1:NM_004487:exon13:c.C2732G:p.T911S 0.11 0.012 0.15 0.048 0.24 0.12 0.1842 0.0407 0.1097 0.0462 0.1949 0.2431 0.2031 0.1558 0.17 0.041 0.24 0.087 0.25 rs3732407 . . . . . . . . . . . . . 0.702 0.051 T 0.012 0.151 B 0.027 0.198 B 0.003 0.353 N 0.996 0.232 P 1.59 0.404 L 3.16 0.130 T 0.59 0.040 N 0.052 0.064 -0.945 0.419 T 0.000 0.000 T . . . -0.267 0.071 0.787 0.741 0.102 0.977 0.762 D c -0.302 -0.080 0.726 0.230 0.707 0.730 0 4.48 0.538 3.392 0.520 0.953 0.551 1.000 0.715 1.000 0.888 12.094 0.529 . ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000145088.4|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173230.11|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.1833 0.0383 0.1153 0.2778 0.0503 0.1982 0.2387 0.2288 0.1545 0.1672 0.0455 0.1391 0.2517 0.0607 0.2002 0.2391 0.2080 het 1384.64 114 3 121416623 . G C 1384.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.196;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7463;MQ=59.47;MQ0=0;MQRankSum=2.545;QD=12.15;ReadPosRankSum=1.167;VQSLOD=4.6402;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,57:114:99:1415,0,1555 3 121435621 121435621 T C exonic GOLGB1 synonymous SNV GOLGB1:NM_001256488:exon8:c.A1011G:p.Q337Q,GOLGB1:NM_001256486:exon9:c.A1251G:p.Q417Q,GOLGB1:NM_001256487:exon9:c.A1134G:p.Q378Q,GOLGB1:NM_004487:exon9:c.A1236G:p.Q412Q 0.65 0.57 0.48 0.85 0.75 0.58 0.6990 0.6056 0.3959 0.8564 0.7416 0.7598 0.7192 0.6243 0.71 0.61 0.76 0.67 0.72 rs9832267 COSM4157168 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6893 0.6091 0.4102 0.7335 0.8591 0.7426 0.7602 0.7264 0.6229 0.7046 0.6023 0.4773 0.6946 0.8501 0.7414 0.7516 0.7227 hom 4107.11 133 3 121435621 . T C 4107.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.654;DP=133;Dels=0.00;FS=3.078;HRun=1;HaplotypeScore=0.9867;MQ=59.27;MQ0=0;MQRankSum=-0.977;QD=30.88;ReadPosRankSum=0.716;VQSLOD=3.6237;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,132:133:99:4082,313,0 3 121435624 121435624 C T exonic GOLGB1 synonymous SNV GOLGB1:NM_001256488:exon8:c.G1008A:p.E336E,GOLGB1:NM_001256486:exon9:c.G1248A:p.E416E,GOLGB1:NM_001256487:exon9:c.G1131A:p.E377E,GOLGB1:NM_004487:exon9:c.G1233A:p.E411E 0.65 0.57 0.48 0.85 0.75 0.58 0.6995 0.6107 0.3962 0.8564 0.7416 0.7598 0.7192 0.6240 0.71 0.61 0.76 0.67 0.72 rs9812411 COSM4157169 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6897 0.6138 0.4106 0.7334 0.8592 0.7427 0.7603 0.7264 0.6229 0.7063 0.6080 0.4773 0.6946 0.8503 0.7410 0.7519 0.7227 hom 4014.16 133 3 121435624 . C T 4014.16 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9867;MQ=59.27;MQ0=0;QD=30.18;VQSLOD=9.4530;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:4013,319,0 3 121526204 121526204 G A exonic IQCB1 synonymous SNV IQCB1:NM_001023570:exon7:c.C574T:p.L192L,IQCB1:NM_001023571:exon7:c.C574T:p.L192L,IQCB1:NM_001319107:exon7:c.C574T:p.L192L 0.62 0.76 0.7 0.32 0.62 0.68 0.6275 0.7172 0.7531 0.3038 0.6643 0.6217 0.6062 0.6626 0.65 0.71 0.62 0.61 0.6 rs4543051 . . Benign|Benign not_specified|Renal_dysplasia_and_retinal_aplasia RCV000179799.2|RCV000372741.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|CN117960:ORPHA3156:236531005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6290 0.7152 0.7487 0.5632 0.2948 0.6679 0.6233 0.6013 0.6618 0.6364 0.7150 0.6959 0.5695 0.3130 0.6709 0.6162 0.6260 het 977.61 100 3 121526204 . G A 977.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.609;DP=100;Dels=0.01;FS=6.664;HRun=1;HaplotypeScore=5.9457;MQ=59.20;MQ0=0;MQRankSum=0.613;QD=9.68;ReadPosRankSum=-0.592;VQSLOD=3.8079;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,43:100:99:1008,0,1468 3 121825197 121825197 G A exonic CD86 nonsynonymous SNV CD86:NM_001206924:exon3:c.G217A:p.V73I,CD86:NM_001206925:exon3:c.G307A:p.V103I,CD86:NM_006889:exon4:c.G535A:p.V179I,CD86:NM_175862:exon4:c.G553A:p.V185I,CD86:NM_176892:exon4:c.G535A:p.V179I 0.87 0.66 0.94 1. 0.94 0.88 0.9138 0.6847 0.9567 0.9983 0.9566 0.9320 0.9185 0.8932 0.85 0.69 0.93 0.78 0.91 rs2681417 COSM4157177 1(thyroid) . . . . . . . . . . . 0.337 0.155 T 0.005 0.139 B 0.012 0.149 B 0.821 0.092 N 1 0.090 P 1.895 0.505 L 3.43 0.143 T -0.2 0.138 N 0.131 0.150 -1.015 0.253 T 0.000 0.000 T . . . -0.127 0.082 1.540 0.921 0.209 0.014 0.046 N c -0.939 -1.007 1.000 0.473 0.722 0.854 0 -1.9 0.072 -1.100 0.034 -0.189 0.103 0.000 0.063 0.030 0.147 6.166 0.195 Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9211 0.6772 0.9540 0.9457 0.9972 0.9595 0.9299 0.9328 0.8938 0.8658 0.6737 0.9391 0.9437 0.9969 0.9574 0.9317 0.9297 het 2043.79 172 3 121825197 . G A 2043.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.315;DP=172;Dels=0.00;FS=2.124;HRun=0;HaplotypeScore=1.4972;MQ=58.85;MQ0=0;MQRankSum=-0.440;QD=11.88;ReadPosRankSum=-1.705;VQSLOD=5.9439;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,84:172:99:2074,0,2488 3 122003045 122003045 G C exonic CASR synonymous SNV CASR:NM_000388:exon7:c.G2244C:p.P748P,CASR:NM_001178065:exon7:c.G2274C:p.P758P 0.97 0.9 1. 1. 1. 1. 0.9916 0.9081 0.9952 1 1 0.9998 0.9945 1 0.97 0.92 1. 0.96 0.99 rs2036400 . . Benign|Benign\x2cBenign Hypocalcemia\x2c_autosomal_dominant_1|Hypocalciuric_hypercalcemia\x2c_familial\x2c_type_1\x2cnot_specified RCV000234246.2|RCV000234246.2\x2cRCV000152932.2 MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen C0342345:601198|C1809471:145980:ORPHA93372:190868007\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9936 0.9074 0.9963 1 1 1.0000 0.9998 0.9969 0.9999 0.9740 0.9092 0.9952 1 1 1 0.9997 0.9949 hom 3615.41 117 3 122003045 . G C 3615.41 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.9996;MQ=59.41;MQ0=0;QD=30.90;VQSLOD=9.5492;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3615,283,0 3 122003769 122003769 A G exonic CASR nonsynonymous SNV CASR:NM_000388:exon7:c.A2968G:p.R990G,CASR:NM_001178065:exon7:c.A2998G:p.R1000G 0.21 0.03 0.2 0.52 0.074 0.26 0.1451 0.0448 0.2834 0.5316 0.1044 0.0751 0.1416 0.2101 0.063 0.043 0.073 0.14 0.049 rs1042636 COSM3767201 1(liver) Benign|Benign|Benign|Benign|Benign not_specified|Hypocalcemia|Neonatal_severe_hyperparathyroidism|Familial_hypocalciuric_hypercalcemia|Hypoparathyroidism_familial_isolated RCV000179296.2|RCV000276967.1|RCV000312165.1|RCV000369225.1|RCV000394192.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet CN169374|C0020598|C1832615:239200:ORPHA417|C0342637:ORPHA405:190868007|C1832648:146200:ORPHA2238 . . . . . . 0.002 0.721 D 0.319 0.312 B 0.051 0.240 B 0.000 0.559 D 0.015 0.403 P 1.735 0.450 L -2.56 0.896 D -0.79 0.219 N 0.434 0.489 -0.936 0.433 T 0.000 0.000 T . . . 2.338 0.342 18.42 0.992 0.550 0.872 0.464 D c -0.198 -0.068 0.000 0.058 0.554 0.283 0 3.26 0.363 2.667 0.462 0.189 0.248 0.999 0.424 0.340 0.244 11.867 0.516 . . . 0.1503 0.0413 0.2716 0.0409 0.5300 0.1055 0.0747 0.1158 0.2081 0.1041 0.0461 0.2339 0.0596 0.5093 0.1093 0.0851 0.1255 het 956 87 3 122003769 . A G 956 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.047;DP=87;Dels=0.00;FS=2.833;HRun=2;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=-0.737;QD=10.99;ReadPosRankSum=-1.245;VQSLOD=5.5304;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,36:87:99:986,0,1535 3 122003832 122003832 G C exonic CASR nonsynonymous SNV CASR:NM_000388:exon7:c.G3031C:p.E1011Q,CASR:NM_001178065:exon7:c.G3061C:p.E1021Q 0.92 0.8 0.98 0.98 0.96 0.95 0.9446 0.8263 0.9820 0.9835 0.9185 0.9521 0.9547 0.9522 0.92 0.84 0.96 0.91 0.97 rs1801726 . . Benign|Benign\x2cBenign Hypocalcemia\x2c_autosomal_dominant_1|Hypocalciuric_hypercalcemia\x2c_familial\x2c_type_1\x2cnot_specified RCV000229426.2|RCV000229426.2\x2cRCV000152934.3 MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen C0342345:601198|C1809471:145980:ORPHA93372:190868007\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.454 N 1.000 0.090 P . . . -2.35 0.881 D 0.26 0.044 N 0.035 0.044 -0.937 0.431 T 0.000 0.000 T . . . -0.624 0.049 0.109 0.550 0.051 0.012 0.042 N c -0.582 -0.417 0.029 0.139 0.487 0.133 0 5.79 0.917 1.199 0.316 0.067 0.174 1.000 0.715 0.342 0.244 12.554 0.554 . . . 0.9501 0.8235 0.9822 0.9853 0.9844 0.9181 0.9547 0.9608 0.9520 0.9148 0.8274 0.9785 0.9934 0.9809 0.9190 0.9516 0.9264 hom 2121.08 60 3 122003832 . G C 2121.08 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6604;MQ=58.45;MQ0=0;QD=35.35;VQSLOD=8.4117;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2154,169,0 3 122133830 122133830 T G exonic WDR5B synonymous SNV WDR5B:NM_019069:exon1:c.A546C:p.I182I 0.2 0.11 0.21 0.22 0.26 0.22 0.2418 0.1298 0.1578 0.2114 0.3655 0.2684 0.2461 0.2298 0.21 0.12 0.26 0.21 0.25 rs3749213 COSM3759657 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2405 0.1236 0.1565 0.2227 0.2065 0.3595 0.2665 0.2546 0.2320 0.2347 0.1173 0.1838 0.2152 0.2086 0.3645 0.2756 0.2841 het 1408.36 88 3 122133830 . T G 1408.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.475;DP=88;Dels=0.00;FS=5.677;HRun=0;HaplotypeScore=1.9106;MQ=58.41;MQ0=0;MQRankSum=-0.716;QD=16.00;ReadPosRankSum=-0.469;VQSLOD=4.6706;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,53:88:99:1438,0,926 3 122186188 122186188 C T exonic KPNA1 nonsynonymous SNV KPNA1:NM_002264:exon3:c.G218A:p.S73N 0.99 0.98 1. 1. 1. 1. 0.9980 0.9775 0.9996 1 1 1.0000 1 1 0.99 0.98 1. 0.79 0.98 rs4678193 . . . . . . . . . . . . . 0.373 0.147 T 0.0 0.026 B 0.005 0.104 B 0.003 0.356 N 1.000 0.090 P 0.755 0.192 N 0.87 0.464 T -0.63 0.195 N 0.018 0.039 -0.935 0.434 T 0.000 0.000 T . . . 2.037 0.306 16.45 0.866 0.161 0.059 0.117 N c -0.547 -0.385 0.994 0.333 0.737 0.974 0 4.56 0.555 3.729 0.545 0.062 0.168 1.000 0.715 0.933 0.406 8.401 0.316 Armadillo-like helical|Armadillo-type fold|Importin-alpha\x2c importin-beta-binding domain . . 0.9985 0.9777 0.9996 1 1 1 1.0000 0.9996 1.0000 0.9933 0.9765 0.9988 1 1 1 1 0.9990 hom 2294.83 81 3 122186188 . C T 2294.83 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;QD=28.33;VQSLOD=8.1509;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2328,181,0 3 122259606 122259606 T C exonic PARP9 nonsynonymous SNV PARP9:NM_001146102:exon8:c.A1583G:p.Y528C,PARP9:NM_001146103:exon8:c.A1478G:p.Y493C,PARP9:NM_001146104:exon8:c.A1478G:p.Y493C,PARP9:NM_001146105:exon8:c.A1478G:p.Y493C,PARP9:NM_001146106:exon8:c.A1478G:p.Y493C,PARP9:NM_031458:exon8:c.A1583G:p.Y528C 0.51 0.42 0.41 0.65 0.56 0.49 0.5385 0.4606 0.3341 0.6569 0.5797 0.5705 0.5552 0.5221 0.53 0.47 0.57 0.46 0.57 rs9851180 COSM4157180 1(thyroid) . . . . . . . . . . . 0.195 0.214 T 0.0 0.026 B 0.0 0.013 B 0.011 0.013 N 1 0.090 P 0.06 0.082 N 3.17 0.166 T 0.83 0.056 N 0.033 0.068 -0.914 0.464 T 0.000 0.000 T . . . -1.376 0.020 0.004 0.224 0.009 0.006 0.027 N c -1.831 -1.867 0.986 0.310 0.732 0.924 0 -8.73 0.007 -1.316 0.028 -0.985 0.023 0.000 0.063 0.001 0.043 7.786 0.281 . ENSG00000114023.11|ENSG00000114023.11|ENSG00000114023.11|ENSG00000160124.5 Adipose_Subcutaneous|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis 0.5314 0.4568 0.3411 0.6105 0.6552 0.5760 0.5660 0.5442 0.5214 0.5319 0.4548 0.3911 0.5960 0.6733 0.5775 0.5575 0.5307 hom 6878.18 214 3 122259606 . T C 6878.18 Mask AC=2;AF=1.00;AN=2;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9916;MQ=57.65;MQ0=0;QD=32.14;VQSLOD=4.1745;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:6878,533,0 3 122274757 122274757 G C exonic PARP9 synonymous SNV PARP9:NM_001146102:exon4:c.C366G:p.V122V,PARP9:NM_001146103:exon4:c.C261G:p.V87V,PARP9:NM_001146104:exon4:c.C261G:p.V87V,PARP9:NM_001146105:exon4:c.C261G:p.V87V,PARP9:NM_001146106:exon4:c.C261G:p.V87V,PARP9:NM_031458:exon4:c.C366G:p.V122V 0.19 0.065 0.2 0.23 0.26 0.22 0.2410 0.0995 0.1559 0.2274 0.3670 0.2693 0.2461 0.2316 0.21 0.097 0.26 0.18 0.24 rs73192127 COSM3759658 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2408 0.0945 0.1553 0.2320 0.2235 0.3608 0.2673 0.2560 0.2341 0.2283 0.0906 0.1799 0.2252 0.2288 0.3643 0.2763 0.2811 het 598 54 3 122274757 . G C 598 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.507;DP=54;Dels=0.00;FS=2.675;HRun=0;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;MQRankSum=-0.912;QD=11.07;ReadPosRankSum=-0.244;VQSLOD=6.0844;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,23:54:99:628,0,898 3 122288210 122288210 G A exonic DTX3L nonsynonymous SNV DTX3L:NM_138287:exon3:c.G1274A:p.R425K 0.55 0.46 0.59 0.66 0.56 0.49 0.5667 0.4894 0.5343 0.6667 0.5864 0.5799 0.5643 0.5242 0.54 0.49 0.57 0.53 0.57 rs2332285 COSM5983130 1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.436 N 1 0.588 P -1.525 0.005 N 1.85 0.245 T 1.73 0.006 N 0.021 0.005 -0.933 0.438 T 0.000 0.000 T . . . 0.401 0.133 6.620 0.653 0.075 0.005 0.022 N c -1.192 -0.931 1.000 0.747 0.563 0.310 0 4.47 0.536 1.189 0.315 0.244 0.267 0.140 0.233 0.289 0.235 8.377 0.314 . ENSG00000114023.11|ENSG00000114023.11 Adipose_Subcutaneous|Skin_Sun_Exposed_Lower_leg 0.5647 0.4818 0.5370 0.5884 0.6665 0.5819 0.5741 0.5745 0.5231 0.5452 0.4772 0.5656 0.5695 0.6907 0.5791 0.5593 0.5493 hom 5844.84 182 3 122288210 . G A 5844.84 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.428;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2330;MQ=59.46;MQ0=0;MQRankSum=1.675;QD=32.11;ReadPosRankSum=1.428;VQSLOD=7.1510;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,181:182:99:5811,453,0 3 122345870 122345870 C T exonic PARP15 synonymous SNV PARP15:NM_152615:exon5:c.C726T:p.S242S,PARP15:NM_001113523:exon9:c.C1428T:p.S476S 0.083 0.0091 0.092 0.0089 0.22 0.12 0.1494 0.0333 0.0824 0.0062 0.2483 0.1945 0.1652 0.1197 0.14 0.037 0.2 0.065 0.25 rs17208928 COSM3759660;COSM3759659 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1508 0.0311 0.0850 0.2030 0.0060 0.2378 0.1945 0.1746 0.1196 0.1543 0.0359 0.1122 0.2384 0.0056 0.2390 0.2178 0.1914 het 889.81 56 3 122345870 . C T 889.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.385;DP=56;Dels=0.00;FS=1.087;HRun=0;HaplotypeScore=2.8676;MQ=58.46;MQ0=0;MQRankSum=-0.128;QD=15.89;ReadPosRankSum=-0.932;VQSLOD=5.5429;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,36:56:99:920,0,536 3 122354037 122354037 A G exonic PARP15 synonymous SNV PARP15:NM_001308321:exon6:c.A834G:p.K278K,PARP15:NM_152615:exon7:c.A1041G:p.K347K,PARP15:NM_001308320:exon8:c.A1158G:p.K386K,PARP15:NM_001113523:exon11:c.A1743G:p.K581K 0.36 0.26 0.39 0.5 0.38 0.31 0.3685 0.2629 0.4399 0.4735 0.3857 0.3694 0.3714 0.3201 0.33 0.26 0.37 0.33 0.48 rs1106346 COSM3759661;COSM3759662 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3731 0.2602 0.4349 0.3567 0.4710 0.3741 0.3704 0.3849 0.3189 0.3592 0.2574 0.4294 0.4007 0.4473 0.3755 0.3988 0.3852 hom 2357.53 77 3 122354037 . A G 2357.53 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8857;MQ=59.38;MQ0=0;QD=30.62;VQSLOD=9.0387;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2391,187,0 3 122354716 122354716 C T exonic PARP15 synonymous SNV PARP15:NM_001308321:exon7:c.C897T:p.D299D,PARP15:NM_152615:exon8:c.C1104T:p.D368D,PARP15:NM_001308320:exon9:c.C1221T:p.D407D,PARP15:NM_001113523:exon12:c.C1806T:p.D602D 0.11 0.057 0.13 0.0099 0.25 0.12 0.1790 0.0677 0.1214 0.0064 0.2865 0.2299 0.1898 0.1308 0.18 0.071 0.23 0.098 0.3 rs61754895 COSM3759663;COSM3759664 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1806 0.0644 0.1241 0.2081 0.0062 0.2739 0.2316 0.2002 0.1326 0.1922 0.0683 0.1575 0.2467 0.0056 0.2812 0.2618 0.2352 het 1624.84 152 3 122354716 . C T 1624.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.534;DP=152;Dels=0.00;FS=2.961;HRun=0;HaplotypeScore=2.8994;MQ=59.14;MQ0=0;MQRankSum=-0.066;QD=10.69;ReadPosRankSum=-0.674;VQSLOD=5.9481;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,64:152:99:1655,0,2211 3 122354792 122354792 G A exonic PARP15 nonsynonymous SNV PARP15:NM_001308321:exon7:c.G973A:p.G325R,PARP15:NM_152615:exon8:c.G1180A:p.G394R,PARP15:NM_001308320:exon9:c.G1297A:p.G433R,PARP15:NM_001113523:exon12:c.G1882A:p.G628R 0.22 0.098 0.25 0.49 0.13 0.19 0.1805 0.1131 0.3133 0.4671 0.0987 0.1378 0.1729 0.1858 0.13 0.12 0.13 0.17 0.2 rs12489170 . . . . . . . . . . . . . 0.01 0.564 D 1.0 0.899 D 1.0 0.971 D . . . 0.000 0.588 P 3.2 0.893 M 2.34 0.164 T -7.08 0.953 D 0.347 0.501 -0.903 0.477 T 0.000 0.000 T . . . 5.216 0.704 25.6 0.998 0.891 0.996 0.979 D c 0.610 0.389 1.000 0.747 0.707 0.730 0 3.99 0.454 9.713 0.980 1.048 0.713 1.000 0.715 0.004 0.083 14.800 0.694 Macro domain;Poly(ADP-ribose) polymerase\x2c catalytic domain . . 0.1857 0.1127 0.3059 0.1480 0.4647 0.0997 0.1379 0.1791 0.1834 0.1438 0.1129 0.2637 0.15 0.4428 0.0943 0.1342 0.1446 het 1272.51 130 3 122354792 . G A 1272.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.914;DP=130;Dels=0.00;FS=9.764;HRun=0;HaplotypeScore=1.7287;MQ=59.24;MQ0=0;MQRankSum=-2.080;QD=9.79;ReadPosRankSum=-1.227;VQSLOD=3.1833;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,53:130:99:1303,0,2087 3 122437321 122437321 T C exonic PARP14 synonymous SNV PARP14:NM_017554:exon14:c.T4323C:p.Y1441Y 0.92 0.86 0.94 0.98 0.88 0.96 0.9016 0.8752 0.9394 0.9846 0.8759 0.8815 0.9044 0.9392 0.89 0.89 0.88 0.87 . rs7645033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9026 0.8714 0.9378 0.8852 0.9823 0.8772 0.8807 0.8944 0.9395 0.8775 0.8649 0.9153 0.8709 0.9834 0.8677 0.8734 0.8827 hom 3783.35 124 3 122437321 . T C 3783.35 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8308;MQ=58.61;MQ0=0;QD=30.51;VQSLOD=9.0533;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3783,310,0 3 122630346 122630346 T C exonic SEMA5B nonsynonymous SNV SEMA5B:NM_001256348:exon20:c.A2801G:p.D934G,SEMA5B:NM_001031702:exon21:c.A3083G:p.D1028G,SEMA5B:NM_001256346:exon21:c.A3083G:p.D1028G,SEMA5B:NM_001256347:exon21:c.A3245G:p.D1082G 0.61 0.56 0.63 0.36 0.81 0.71 0.7347 0.5876 0.5434 0.3665 0.7396 0.8278 0.7732 0.7392 0.75 0.58 0.83 0.6 0.7 rs2303983 COSM5461627;COSM5461626;COSM5461628 1(breast);1(large_intestine) . . . . . . . . . . . 0.423 0.103 T 0.0 0.026 B 0.001 0.040 B 0.667 0.060 N 1.000 0.182 P 0.69 0.170 N 1.41 0.346 T -0.31 0.162 N 0.015 0.349 -1.040 0.172 T 0.000 0.000 T . . . -0.080 0.086 1.885 0.296 0.016 0.143 0.181 N c -0.827 -0.817 0.000 0.065 0.706 0.609 0 3.19 0.356 1.913 0.394 -0.420 0.060 0.963 0.335 0.940 0.414 5.939 0.183 . ENSG00000082684.10|ENSG00000273033.1|ENSG00000082684.10 Brain_Cortex|Nerve_Tibial|Testis 0.7096 0.5756 0.5155 0.7808 0.3295 0.7284 0.8292 0.7462 0.7308 0.7031 0.5815 0.5288 0.7933 0.3331 0.7363 0.8124 0.7256 het 136.58 10 3 122630346 . T C 136.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=-1.001;QD=13.66;ReadPosRankSum=-0.573;VQSLOD=6.2367;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,7:10:59.82:167,0,60 3 122642590 122642590 G A exonic SEMA5B synonymous SNV SEMA5B:NM_001256348:exon9:c.C972T:p.I324I,SEMA5B:NM_001031702:exon10:c.C1146T:p.I382I,SEMA5B:NM_001256346:exon10:c.C1146T:p.I382I,SEMA5B:NM_001256347:exon10:c.C1308T:p.I436I 0.42 0.19 0.44 0.3 0.65 0.59 0.5612 0.2558 0.3712 0.2798 0.6299 0.6612 0.5991 0.6004 0.53 0.27 0.67 0.38 0.61 rs2276778 COSM1752863;COSM1752862;COSM1752864 2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5590 0.2456 0.3815 0.6173 0.2773 0.6318 0.6667 0.5817 0.6004 0.5147 0.2569 0.3986 0.6490 0.2739 0.6380 0.6614 0.5818 het 1862.39 183 3 122642590 . G A 1862.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.155;DP=183;Dels=0.00;FS=1.172;HRun=1;HaplotypeScore=5.8230;MQ=59.26;MQ0=0;MQRankSum=-0.465;QD=10.18;ReadPosRankSum=-2.246;VQSLOD=4.1245;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:106,77:183:99:1892,0,2575 3 122680141 122680141 A G exonic SEMA5B synonymous SNV SEMA5B:NM_001256347:exon2:c.T132C:p.G44G 0.26 0.22 0.27 0.35 0.24 0.21 0.2403 0.2387 0.2845 0.3843 0.2913 0.2185 0.2381 0.2015 0.22 0.24 0.22 0.22 0.2 rs13094003 COSM328560 11(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2439 0.2424 0.2846 0.2778 0.3900 0.2809 0.2111 0.2425 0.2000 0.2438 0.2397 0.2864 0.2715 0.3949 0.2874 0.2168 0.2444 hom 1751.11 56 3 122680141 . A G 1751.11 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=31.27;VQSLOD=9.1814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1784,135,0 3 123303821 123303821 G C exonic HACD2 synonymous SNV HACD2:NM_001329783:exon1:c.C54G:p.G18G,HACD2:NM_198402:exon1:c.C54G:p.G18G 0.41 0.48 0.38 0.63 0.18 0.33 0.3267 0.4557 0.4153 0.6311 0.1875 0.2630 0.3125 0.3326 0.16 0.26 0.12 0.076 . rs1271004 COSM1566307 1(thyroid);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2700 0.3938 0.4360 0.2435 0.5718 0.1211 0.1661 0.2508 0.3212 0.2631 0.4356 0.4376 0.2833 0.5872 0.1108 0.1593 0.1783 het 77.63 11 3 123303821 . G C 77.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DP=11;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.663;QD=7.06;ReadPosRankSum=0.278;VQSLOD=9.0042;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,4:11:99:108,0,231 3 123357037 123357037 A G exonic MYLK synonymous SNV MYLK:NM_001321309:exon28:c.T4314C:p.N1438N,MYLK:NM_053026:exon28:c.T4635C:p.N1545N,MYLK:NM_053028:exon28:c.T4635C:p.N1545N,MYLK:NM_053025:exon29:c.T4842C:p.N1614N,MYLK:NM_053027:exon29:c.T4842C:p.N1614N 0.37 0.47 0.33 0.64 0.079 0.3 0.2182 0.4261 0.4443 0.6118 0.0795 0.0933 0.1608 0.2873 0.2 0.41 0.09 0.39 0.098 rs820463 COSM5008425 1(breast);2(large_intestine) Benign|Likely benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000214883.3|RCV000330337.1 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2178 0.4228 0.4188 0.1336 0.6061 0.0811 0.0877 0.1808 0.2856 0.2104 0.4170 0.3840 0.1258 0.5866 0.0695 0.0814 0.1186 het 904.40 77 3 123357037 . A G 904.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.645;DP=77;Dels=0.00;FS=3.117;HRun=0;HaplotypeScore=0.0000;MQ=58.03;MQ0=0;MQRankSum=0.820;QD=11.75;ReadPosRankSum=0.392;VQSLOD=5.3055;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,38:77:99:934,0,1003 3 123411589 123411589 G A exonic MYLK synonymous SNV MYLK:NM_001321309:exon18:c.C3030T:p.T1010T,MYLK:NM_053026:exon18:c.C3351T:p.T1117T,MYLK:NM_053028:exon18:c.C3351T:p.T1117T,MYLK:NM_053025:exon19:c.C3558T:p.T1186T,MYLK:NM_053027:exon19:c.C3558T:p.T1186T 0.33 0.064 0.49 0.069 0.76 0.42 0.5783 0.1597 0.4325 0.0448 0.6327 0.7572 0.625 0.4764 0.56 0.17 0.76 0.32 0.61 rs40305 COSM4407134 1(breast);1(liver) Benign|Likely benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000218051.3|RCV000324555.1 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5812 0.1541 0.4473 0.7662 0.0434 0.6368 0.7607 0.6428 0.4801 0.5243 0.1729 0.5012 0.7417 0.0490 0.6363 0.7442 0.6232 het 1048.19 114 3 123411589 . G A 1048.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.553;DP=114;Dels=0.00;FS=0.737;HRun=0;HaplotypeScore=1.7329;MQ=59.36;MQ0=0;MQRankSum=-1.565;QD=9.19;ReadPosRankSum=-0.626;VQSLOD=5.7042;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,41:114:99:1078,0,1995 3 123418913 123418913 G A exonic MYLK synonymous SNV MYLK:NM_001321309:exon17:c.C2874T:p.N958N,MYLK:NM_053026:exon17:c.C3195T:p.N1065N,MYLK:NM_053028:exon17:c.C3195T:p.N1065N,MYLK:NM_053025:exon18:c.C3402T:p.N1134N,MYLK:NM_053027:exon18:c.C3402T:p.N1134N 0.95 0.82 0.98 1. 1. 1. 0.9824 0.8299 0.9883 0.9998 1 0.9973 0.9835 0.9982 0.94 0.83 1. 0.91 0.98 rs865358 . . Benign|Likely benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000175377.4|RCV000328093.1 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9851 0.8261 0.9868 0.9856 0.9999 1 0.9976 0.9838 0.9982 0.9486 0.8237 0.9881 0.9867 1 1 0.9981 0.9898 hom 7725.58 248 3 123418913 . G A 7725.58 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2464;MQ=59.38;MQ0=0;QD=31.15;VQSLOD=5.8839;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,247:248:99:7695,608,0 3 123451773 123451773 G C exonic MYLK nonsynonymous SNV MYLK:NM_001321309:exon10:c.C958G:p.L320V,MYLK:NM_053025:exon11:c.C1486G:p.L496V,MYLK:NM_053027:exon11:c.C1486G:p.L496V 1. 1. 1. 1. 1. 1. 0.9996 0.9956 1 1 1 1 1 1 1. 1. 1. 1. 1. rs9833275 . . Benign|Likely benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000222054.3|RCV000358452.1 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.588 P -0.5 0.026 N -0.11 0.645 T 0.93 0.016 N 0.016 0.009 -0.958 0.396 T 0.000 0.000 T . . . 3.382 0.465 23.0 0.831 0.141 0.044 0.099 N c -0.629 -0.354 1.000 0.747 0.615 0.372 0 5.29 0.743 2.432 0.442 0.057 0.164 0.977 0.347 0.972 0.466 15.172 0.724 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9997 0.9955 0.9999 1 1 1 1 1 1 0.9987 0.9953 1 1 1 1 1 1 hom 3330.99 106 3 123451773 . G C 3330.99 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=31.42;VQSLOD=8.9098;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3331,259,0 3 123452838 123452838 G A exonic MYLK synonymous SNV MYLK:NM_001321309:exon9:c.C477T:p.T159T,MYLK:NM_053025:exon10:c.C1005T:p.T335T,MYLK:NM_053026:exon10:c.C1005T:p.T335T,MYLK:NM_053027:exon10:c.C1005T:p.T335T,MYLK:NM_053028:exon10:c.C1005T:p.T335T 0.63 0.36 0.73 0.94 0.65 0.6 0.6566 0.4006 0.7059 0.9416 0.6397 0.6637 0.6410 0.6107 0.57 0.39 0.67 0.58 0.65 rs4678047 . . Benign|Likely benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000215397.3|RCV000269693.1 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6623 0.3925 0.7061 0.6372 0.9427 0.6386 0.6643 0.6647 0.6089 0.6001 0.4017 0.7196 0.6667 0.9377 0.6432 0.6578 0.6445 het 2004.67 141 3 123452838 . G A 2004.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.654;DP=141;Dels=0.00;FS=1.480;HRun=0;HaplotypeScore=3.7179;MQ=59.84;MQ0=0;MQRankSum=0.609;QD=14.22;ReadPosRankSum=-0.625;VQSLOD=6.0308;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,71:141:99:2035,0,1895 3 123457893 123457893 G A exonic MYLK nonsynonymous SNV MYLK:NM_053025:exon7:c.C439T:p.P147S,MYLK:NM_053026:exon7:c.C439T:p.P147S,MYLK:NM_053027:exon7:c.C439T:p.P147S,MYLK:NM_053028:exon7:c.C439T:p.P147S 0.86 0.6 0.95 0.94 0.99 0.91 0.9445 0.6422 0.9494 0.9383 0.9670 0.9927 0.9533 0.9274 0.87 0.64 0.99 0.85 0.98 rs9840993 . . Benign|Likely benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000179991.4|RCV000380436.1 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . 0.287 0.173 T 0.095 0.306 B 0.111 0.300 B . . . 0.991 0.241 P 0.895 0.225 L -0.39 0.692 T -1.32 0.336 N 0.015 0.004 -0.986 0.336 T 0.000 0.000 T . . . 0.640 0.155 8.430 0.866 0.161 0.761 0.370 D c -0.895 -0.848 1.000 0.428 0.615 0.372 0 1.3 0.207 3.162 0.502 -0.033 0.126 1.000 0.715 0.954 0.431 11.430 0.491 . . . 0.9492 0.6318 0.9509 0.9664 0.9371 0.9688 0.9940 0.9649 0.9260 0.8854 0.6412 0.9606 0.9669 0.9234 0.9668 0.9933 0.9592 hom 2561.88 81 3 123457893 . G A 2561.88 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.77;MQ0=0;QD=31.63;VQSLOD=9.4502;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2595,205,0 3 123634046 123634046 G A exonic CCDC14 synonymous SNV CCDC14:NM_001308317:exon12:c.C1842T:p.S614S,CCDC14:NM_022757:exon12:c.C2319T:p.S773S 0.84 0.95 0.87 0.89 0.71 0.76 0.7938 0.9316 0.8866 0.9139 0.7157 0.7518 0.7770 0.7805 0.81 0.92 0.75 0.9 . rs2700373 COSM3759678;COSM3759677;COSM3759676 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7939 0.9354 0.8807 0.7770 0.9149 0.7150 0.7512 0.7805 0.7810 0.8119 0.9313 0.8652 0.8079 0.9037 0.7049 0.7576 0.7643 hom 2309.31 68 3 123634046 . G A 2309.31 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.32;MQ0=0;QD=33.96;VQSLOD=9.7292;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2342,193,0 3 123665902 123665902 T G exonic CCDC14 nonsynonymous SNV CCDC14:NM_001308317:exon7:c.A493C:p.T165P,CCDC14:NM_022757:exon7:c.A970C:p.T324P 0.3 0.1 0.4 0.1 0.57 0.42 0.4887 0.1814 0.3244 0.1096 0.5345 0.6120 0.4978 0.4786 0.48 0.19 0.62 0.24 . rs17310144 COSM5420211;COSM5420210;COSM5420209 1(pancreas) . . . . . . . . . . . 0.262 0.315 T 0.899 0.475 P 0.367 0.416 B 0.278 0.150 N 1 0.090 P 1.39 0.351 L 0.9 0.453 T -2.24 0.558 N 0.154 0.267 -0.945 0.418 T 0.000 0.000 T . . . 0.183 0.111 4.500 0.973 0.328 0.182 0.200 N c -0.685 -0.836 0.853 0.250 0.707 0.730 0 -2.21 0.065 -0.049 0.118 0.082 0.190 0.000 0.063 0.014 0.122 10.212 0.421 . ENSG00000175455.10 Colon_Transverse 0.4894 0.1761 0.3418 0.5789 0.1118 0.5288 0.6202 0.5148 0.4814 0.4546 0.1896 0.4017 0.5906 0.1108 0.5186 0.6269 0.5265 hom 7259.52 239 3 123665902 . T G 7259.52 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.767;DP=239;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.8188;MQ=58.89;MQ0=0;MQRankSum=-1.323;QD=30.37;ReadPosRankSum=0.884;VQSLOD=7.2198;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,238:239:99:7220,518,0 3 123988039 123988039 T C exonic KALRN synonymous SNV KALRN:NM_001024660:exon5:c.T900C:p.H300H,KALRN:NM_001322988:exon5:c.T900C:p.H300H,KALRN:NM_001322989:exon5:c.T900C:p.H300H,KALRN:NM_001322990:exon5:c.T900C:p.H300H,KALRN:NM_001322991:exon5:c.T900C:p.H300H,KALRN:NM_001322992:exon5:c.T900C:p.H300H,KALRN:NM_003947:exon5:c.T900C:p.H300H 0.62 0.65 0.66 0.53 0.62 0.65 0.6193 0.6552 0.6929 0.5320 0.6026 0.6112 0.5869 0.6322 0.63 0.65 0.61 0.6 0.5 rs2272486 COSM445466;COSM1484529 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6200 0.65 0.6869 0.5754 0.5391 0.6106 0.6111 0.6196 0.6302 0.6211 0.6496 0.6683 0.5633 0.5446 0.6065 0.6156 0.6063 het 1938.49 136 3 123988039 . T C 1938.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.050;DP=136;Dels=0.00;FS=3.194;HRun=0;HaplotypeScore=3.5479;MQ=59.69;MQ0=0;MQRankSum=-0.211;QD=14.25;ReadPosRankSum=1.049;VQSLOD=5.5405;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,72:136:99:1968,0,1588 3 124044949 124044949 C T exonic KALRN synonymous SNV KALRN:NM_001024660:exon7:c.C1209T:p.F403F,KALRN:NM_001322988:exon7:c.C1209T:p.F403F,KALRN:NM_001322989:exon7:c.C1209T:p.F403F,KALRN:NM_001322990:exon7:c.C1209T:p.F403F,KALRN:NM_001322991:exon7:c.C1209T:p.F403F,KALRN:NM_001322992:exon7:c.C1209T:p.F403F,KALRN:NM_003947:exon7:c.C1209T:p.F403F 0.75 0.5 0.81 0.78 0.89 0.88 0.8567 0.5763 0.8444 0.7698 0.9046 0.9011 0.8502 0.8893 0.79 0.59 0.9 0.73 0.89 rs2289778 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8601 0.5717 0.8396 0.8376 0.7755 0.9057 0.9050 0.8649 0.8837 0.8028 0.5831 0.8473 0.8212 0.7821 0.8998 0.9033 0.8605 hom 5948.28 189 3 124044949 . C T 5948.28 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.3990;MQ=59.45;MQ0=0;QD=31.47;VQSLOD=9.6816;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:5948,466,0 3 124646594 124646594 A G exonic MUC13 nonsynonymous SNV MUC13:NM_033049:exon2:c.T296C:p.I99T 0.39 0.43 0.45 0.22 0.43 0.45 0.4221 0.4360 0.4708 0.2382 0.4741 0.4183 0.4181 0.4706 0.43 0.45 0.42 0.43 0.43 rs4679392 COSM149459 1(stomach);2(haematopoietic_and_lymphoid_tissue);3(prostate);1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.805 0.016 N . . . . . . 0.005 0.003 -0.935 0.434 T 0.000 0.000 T . . . -0.784 0.041 0.047 0.325 0.019 0.000 0.001 N c -1.341 -1.325 0.954 0.281 0.206 0.033 2 1.89 0.246 0.099 0.149 -0.095 0.117 0.000 0.063 0.004 0.083 4.160 0.097 . ENSG00000082781.7|ENSG00000082781.7|ENSG00000082781.7|ENSG00000082781.7|ENSG00000082781.7 Artery_Aorta|Artery_Tibial|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis 0.4272 0.4384 0.4764 0.3882 0.2382 0.4765 0.4227 0.4075 0.4703 0.4238 0.4431 0.4797 0.4167 0.2522 0.4665 0.4170 0.4418 het 4425.41 247 3 124646594 . A G 4425.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.608;DP=247;DS;Dels=0.00;FS=5.303;HRun=0;HaplotypeScore=8.6667;MQ=57.04;MQ0=0;MQRankSum=0.172;QD=17.92;ReadPosRankSum=-0.305;VQSLOD=2.2211;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,129:247:99:3762,0,2998 3 124646705 124646705 - AAG exonic MUC13 nonframeshift insertion MUC13:NM_033049:exon2:c.184_185insCTT:p.P61_F62insS 0.99 0.95 1. 1. 1. 1. 0.9963 0.9610 0.9978 1 0.9997 0.9999 0.9956 0.9998 0.99 0.96 1. . . rs72587472 COSM5713096 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9972 0.9616 0.9980 0.9999 1 0.9998 0.9998 0.9985 0.9995 0.9905 0.9675 0.9976 1 0.9994 1 0.9997 0.9959 hom 15508.91 249 3 124646705 . A AAAG 15508.91 Mask AC=2;AF=1.00;AN=2;DP=249;DS;FS=0.000;HRun=0;HaplotypeScore=677.5734;MQ=54.64;MQ0=0;QD=62.04;set=variant2 GT:AD:DP:GQ:PL 1/1:24,218:249:99:15509,710,0 3 124692689 124692689 C T exonic HEG1 synonymous SNV HEG1:NM_020733:exon16:c.G3882A:p.P1294P 0.7 0.88 0.6 0.78 0.6 0.57 0.6209 0.8394 0.5468 0.7889 0.5864 0.5954 0.5958 0.5737 0.67 0.83 0.6 0.76 . rs2270778 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6175 0.8420 0.5701 0.6063 0.7955 0.5830 0.5935 0.6093 0.5750 0.6670 0.8367 0.5742 0.6225 0.8146 0.5880 0.5811 0.6008 hom 2285.03 76 3 124692689 . C T 2285.03 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=58.62;MQ0=0;QD=30.07;VQSLOD=8.7739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2318,181,0 3 124728626 124728626 A G exonic HEG1 nonsynonymous SNV HEG1:NM_020733:exon8:c.T3116C:p.M1039T 0.63 0.51 0.72 0.6 0.65 0.73 0.6505 0.5371 0.7173 0.5587 0.6197 0.6511 0.6585 0.7281 0.63 0.56 0.66 0.73 . rs6438869 COSM3759687 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.159 0.177 N 1 0.090 P -1.315 0.007 N -2.83 0.913 D 1.74 0.006 N 0.034 0.014 -0.881 0.497 T 0.000 0.000 T . . . -3.066 0.001 0.001 0.182 0.006 0.003 0.016 N c -2.188 -2.216 1.000 0.747 0.707 0.730 0 -7.74 0.011 -0.591 0.058 -0.950 0.024 0.000 0.063 0.243 0.226 19.552 0.953 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain . . 0.6538 0.5398 0.7043 0.7205 0.5561 0.6299 0.6485 0.6728 0.7220 0.6136 0.5531 0.7033 0.6689 0.5328 0.6121 0.6504 0.6334 hom 1162.50 42 3 124728626 . A G 1162.50 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=27.68;VQSLOD=8.3546;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:93.29:1196,93,0 3 124731485 124731485 C G exonic HEG1 nonsynonymous SNV HEG1:NM_020733:exon6:c.G2938C:p.V980L 0.75 0.66 0.74 0.93 0.63 0.81 0.6847 0.6567 0.7935 0.9192 0.7057 0.6113 0.7075 0.7906 0.62 0.67 0.6 0.78 . rs10804567 COSM3759688 1(oesophagus);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.429 0.047 N 1 0.090 P -1.975 0.002 N -2.24 0.872 D 0.81 0.018 N 0.041 0.021 -0.957 0.397 T 0.000 0.000 T . . . -1.599 0.015 0.002 0.206 0.007 0.007 0.029 N c -2.216 -2.209 1.000 0.747 0.707 0.730 0 -9.01 0.006 -1.864 0.017 -0.700 0.038 0.000 0.063 0.000 0.016 4.606 0.117 . . . 0.6903 0.6610 0.7803 0.6558 0.9251 0.7134 0.6043 0.6650 0.7851 0.6660 0.6578 0.7572 0.6258 0.9282 0.7109 0.6271 0.6745 hom 1627.65 48 3 124731485 . C G 1627.65 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.91;VQSLOD=13.4917;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1661,132,0 3 124732618 124732618 A G exonic HEG1 nonsynonymous SNV HEG1:NM_020733:exon6:c.T1805C:p.F602S 0.44 0.23 0.44 0.47 0.54 0.61 0.4975 0.2688 0.3851 0.4296 0.5849 0.5245 0.5504 0.5999 0.42 0.26 0.5 0.46 . rs6790837 COSM3759690 2(breast);1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.367 0.116 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.204 P -1.845 0.003 N -2.16 0.866 D 2.13 0.004 N 0.066 0.052 -0.968 0.376 T 0.000 0.000 T . . . 0.706 0.161 8.864 0.167 0.005 0.067 0.126 N c -0.934 -0.673 1.000 0.420 0.707 0.730 0 3.35 0.373 3.949 0.561 0.129 0.215 1.000 0.715 0.746 0.321 9.274 0.367 . ENSG00000173706.8 Whole_Blood 0.4985 0.2697 0.3979 0.6199 0.4232 0.5839 0.5152 0.5252 0.5976 0.4530 0.2706 0.4200 0.5993 0.4220 0.5882 0.5259 0.5153 hom 2410.58 77 3 124732618 . A G 2410.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.552;DP=77;Dels=0.00;FS=3.493;HRun=0;HaplotypeScore=1.9924;MQ=59.16;MQ0=0;MQRankSum=1.687;QD=31.31;ReadPosRankSum=1.372;VQSLOD=4.4596;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,76:77:99:2444,165,0 3 124738107 124738107 C T exonic HEG1 synonymous SNV HEG1:NM_020733:exon5:c.G1587A:p.S529S 0.49 0.4 0.47 0.48 0.54 0.6 0.5155 0.3998 0.4126 0.4366 0.6025 0.5285 0.5597 0.6078 0.46 0.38 0.5 0.54 . rs59232004 COSM3759691 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5137 0.4035 0.4242 0.6046 0.4280 0.6040 0.5180 0.5370 0.6003 0.4957 0.4062 0.4594 0.5927 0.4264 0.6006 0.5292 0.5204 hom 3202.18 93 3 124738107 . C T 3202.18 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=34.43;VQSLOD=9.1347;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3235,256,0 3 124739892 124739892 G A exonic HEG1 synonymous SNV HEG1:NM_020733:exon4:c.C996T:p.A332A 0.51 0.46 0.48 0.48 0.54 0.6 0.5532 0.4800 0.4710 0.4792 0.6223 0.5609 0.5780 0.6215 0.48 0.43 0.51 0.53 . rs6438874 COSM3759692 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5181 0.4539 0.4282 0.6058 0.4296 0.6035 0.5190 0.5371 0.6001 0.5087 0.4522 0.4627 0.5927 0.4267 0.6005 0.5286 0.5267 hom 587.89 18 3 124739892 . G A 587.89 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=32.66;VQSLOD=9.8258;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:621,48,0 3 124746049 124746049 A G exonic HEG1 nonsynonymous SNV HEG1:NM_020733:exon3:c.T913C:p.S305P 0.49 0.37 0.48 0.48 0.55 0.61 0.5389 0.4045 0.4543 0.4696 0.6171 0.5497 0.5965 0.6462 0.46 0.36 0.5 0.52 . rs2981546 COSM5475371 1(large_intestine) . . . . . . . . . . . 0.094 0.313 T 0.011 0.147 B 0.007 0.121 B . . . 1.000 0.090 P 1.39 0.351 L 0.86 0.468 T -1.57 0.379 N 0.117 0.129 -0.975 0.362 T 0.000 0.000 T . . . -0.251 0.072 0.855 0.855 0.154 0.011 0.040 N c -1.394 -1.539 1.000 0.747 0.707 0.730 0 -9.56 0.005 -1.911 0.017 0.109 0.204 0.000 0.063 0.013 0.120 4.513 0.112 . . . 0.5015 0.3774 0.4149 0.5901 0.4237 0.5984 0.5082 0.5257 0.5862 0.4903 0.3875 0.4591 0.5967 0.4268 0.6005 0.5289 0.5184 hom 1164.19 41 3 124746049 . A G 1164.19 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.62;MQ0=0;QD=28.39;VQSLOD=8.3362;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:96.28:1197,96,0 3 124746182 124746182 C A exonic HEG1 synonymous SNV HEG1:NM_020733:exon3:c.G780T:p.P260P 0.51 0.47 0.48 0.48 0.55 0.6 0.5178 0.4534 0.4113 0.4332 0.6015 0.5267 0.5593 0.6025 0.49 0.45 0.51 0.56 . rs2333041 COSM3759693 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5176 0.4575 0.4268 0.6076 0.4286 0.6031 0.5178 0.5392 0.6008 0.5111 0.4598 0.4641 0.5967 0.4280 0.5999 0.5291 0.5246 hom 2165.36 72 3 124746182 . C A 2165.36 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8273;MQ=59.16;MQ0=0;QD=30.07;VQSLOD=9.2406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2198,169,0 3 124746347 124746347 T C exonic HEG1 synonymous SNV HEG1:NM_020733:exon3:c.A615G:p.S205S 0.77 0.79 0.72 0.89 0.62 0.8 0.6826 0.7532 0.7389 0.8822 0.6964 0.6094 0.7116 0.7950 0.65 0.76 0.6 0.8 . rs4404487 COSM3759694 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6833 0.7604 0.7272 0.6357 0.8897 0.7027 0.6019 0.6578 0.7845 0.6864 0.7551 0.7196 0.6192 0.8988 0.7017 0.6204 0.6704 hom 1243.51 45 3 124746347 . T C 1243.51 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=27.63;VQSLOD=8.3519;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1277,105,0 3 124748226 124748226 G A exonic HEG1 synonymous SNV HEG1:NM_020733:exon2:c.C423T:p.G141G 0.49 0.38 0.47 0.48 0.55 0.6 0.5120 0.3796 0.4104 0.4360 0.6015 0.5270 0.5535 0.6025 0.46 0.37 0.51 0.51 . rs2860440 COSM1418564 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5124 0.3834 0.4248 0.6042 0.4294 0.6049 0.5178 0.5353 0.6003 0.4896 0.3868 0.4545 0.5927 0.4278 0.6002 0.5284 0.5173 hom 3737.64 113 3 124748226 . G A 3737.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.406;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8111;MQ=59.02;MQ0=0;MQRankSum=-0.076;QD=33.08;ReadPosRankSum=-0.359;VQSLOD=8.6960;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,111:113:99:3737,304,0 3 124802881 124802881 A G exonic SLC12A8 synonymous SNV SLC12A8:NM_001195483:exon13:c.T1998C:p.P666P,SLC12A8:NM_024628:exon14:c.T1998C:p.P666P 0.62 0.8 0.6 0.58 0.54 0.53 0.5446 0.7679 0.6023 0.5732 0.5962 0.5042 0.5406 0.5038 0.6 0.77 0.52 0.61 0.52 rs2981483 COSM5425187;COSM5425189;COSM5425188 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5510 0.7764 0.6162 0.4332 0.5835 0.6028 0.5088 0.5403 0.5069 0.6213 0.7803 0.6091 0.4503 0.5758 0.6112 0.5413 0.6060 het 411.04 42 3 124802881 . A G 411.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.531;DP=42;Dels=0.00;FS=1.283;HRun=4;HaplotypeScore=0.9789;MQ=57.99;MQ0=0;MQRankSum=0.960;QD=9.79;ReadPosRankSum=-0.253;VQSLOD=5.3688;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,19:42:99:441,0,625 3 124802888 124802888 C T exonic SLC12A8 nonsynonymous SNV SLC12A8:NM_001195483:exon13:c.G1991A:p.R664Q,SLC12A8:NM_024628:exon14:c.G1991A:p.R664Q 0.62 0.8 0.6 0.58 0.54 0.52 0.5412 0.7661 0.6013 0.5708 0.5946 0.5028 0.5376 0.4889 0.6 0.78 0.52 0.61 0.52 rs2981482 . . . . . . . . . . . . . 0.452 0.136 T 0.012 0.247 B 0.007 0.139 B . . . 1 0.090 P 1.2 0.304 L -1.82 0.878 D -0.3 0.123 N 0.058 0.052 -0.952 0.407 T 0.000 0.000 T . . . 1.817 0.279 15.09 0.944 0.243 0.026 0.072 N c -0.936 -0.909 1.000 0.517 0.706 0.609 0 1.63 0.228 -0.210 0.093 -0.886 0.027 0.001 0.137 0.055 0.167 5.940 0.183 . . . 0.5483 0.7753 0.6155 0.4331 0.5821 0.6028 0.5073 0.5393 0.4935 0.6214 0.7808 0.6100 0.4503 0.5757 0.6116 0.5411 0.6049 het 382.53 40 3 124802888 . C T 382.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.790;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=57.88;MQ0=0;MQRankSum=-0.467;QD=9.56;ReadPosRankSum=0.949;VQSLOD=5.9464;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,17:40:99:413,0,549 3 124837684 124837684 T C exonic SLC12A8 nonsynonymous SNV SLC12A8:NM_001195483:exon7:c.A841G:p.I281V,SLC12A8:NM_024628:exon8:c.A841G:p.I281V 1. 1. 1. 1. 1. 1. 0.9997 0.9973 0.9998 0.9999 1 1.0000 0.9989 1 1. 1. 1. 0.98 0.98 rs621383 . . . . . . . . . . . . . 1.0 0.066 T 0.001 0.067 B 0.002 0.093 B . . . 0.992 0.240 P -1.045 0.011 N -5.13 0.987 D 0.21 0.050 N 0.096 0.240 -0.950 0.410 T 0.000 0.000 T . . . -0.863 0.037 0.031 0.649 0.074 0.006 0.026 N c -1.338 -1.203 1.000 0.437 0.706 0.609 0 1.6 0.226 0.686 0.249 -0.302 0.080 0.179 0.238 0.236 0.225 9.400 0.374 Amino acid permease/ SLC12A domain . . 0.9998 0.9971 0.9998 1 0.9999 1 1.0000 0.9998 1 0.9992 0.9971 1 1 1 1 0.9999 1 hom 1885 67 3 124837684 . T C 1885 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.72;MQ0=0;QD=28.13;VQSLOD=8.7052;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1918,153,0 3 124839470 124839470 G A exonic SLC12A8 nonsynonymous SNV SLC12A8:NM_001195483:exon6:c.C797T:p.P266L,SLC12A8:NM_024628:exon7:c.C797T:p.P266L 0.98 0.94 0.99 1. 1. 1. 0.9947 0.9384 0.9974 1 1 0.9999 0.9977 1 0.98 0.94 1. 0.94 0.96 rs863642 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9958 0.9407 0.9968 1 1 1 0.9999 0.9976 1 0.9825 0.9390 0.9976 1 1 1 1 0.9939 hom 1520.46 48 3 124839470 . G A 1520.46 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;QD=31.68;VQSLOD=9.7279;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1553,123,0 3 124951821 124951821 C T exonic ZNF148 synonymous SNV ZNF148:NM_001348426:exon8:c.G1749A:p.P583P,ZNF148:NM_001348431:exon8:c.G1749A:p.P583P,ZNF148:NM_001348434:exon8:c.G1623A:p.P541P,ZNF148:NM_001348428:exon9:c.G1749A:p.P583P,ZNF148:NM_001348430:exon9:c.G1749A:p.P583P,ZNF148:NM_001348432:exon9:c.G1749A:p.P583P,ZNF148:NM_001348433:exon9:c.G1749A:p.P583P,ZNF148:NM_021964:exon9:c.G1749A:p.P583P,ZNF148:NM_001348424:exon10:c.G1749A:p.P583P,ZNF148:NM_001348425:exon10:c.G1749A:p.P583P,ZNF148:NM_001348427:exon10:c.G1749A:p.P583P,ZNF148:NM_001348429:exon10:c.G1749A:p.P583P 0.71 0.88 0.63 0.53 0.75 0.66 0.7207 0.8527 0.5232 0.5091 0.7654 0.7679 0.7450 0.6754 0.79 0.85 0.76 0.72 0.66 rs1053738 COSM4407220 1(stomach);1(liver);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7120 0.8518 0.5421 0.8245 0.5081 0.7623 0.7636 0.7457 0.6773 0.7704 0.8560 0.5839 0.8444 0.5068 0.7589 0.7605 0.7709 hom 2813.06 88 3 124951821 . C T 2813.06 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.24;MQ0=0;QD=31.97;VQSLOD=9.7154;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2846,226,0 3 125648356 125648356 T C exonic ALG1L nonsynonymous SNV ALG1L:NM_001015050:exon6:c.A403G:p.N135D,ALG1L:NM_001195223:exon7:c.A463G:p.N155D 0.28 0.23 0.27 0.24 0.37 0.28 0.3402 0.2669 0.2352 0.2778 0.4371 0.3841 0.3783 0.2768 0.33 0.27 0.36 0.29 0.34 rs3828357 COSM4002436 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . 0.081 0.334 T 0.594 0.373 P 0.164 0.333 B 0.001 0.407 D 0.000 0.524 P 1.665 0.427 L -0.48 0.703 T -2.91 0.609 D 0.019 0.004 -0.998 0.305 T 0.000 0.000 T . . . 0.922 0.182 10.21 0.961 0.281 0.891 0.491 D c -0.381 -0.426 0.884 0.257 0.622 0.393 0 2.3 0.276 4.932 0.629 0.491 0.279 1.000 0.715 0.018 0.130 8.154 0.301 . ENSG00000189366.5|ENSG00000189366.5|ENSG00000114547.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000241288.3|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000241278.1|ENSG00000241288.3|ENSG00000189366.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000241439.1|ENSG00000171084.11|ENSG00000241439.1|ENSG00000171084.11|ENSG00000189366.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114547.5|ENSG00000241439.1|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114547.5|ENSG00000171084.11|ENSG00000246022.2|ENSG00000189366.5|ENSG00000114547.5 Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Thyroid|Thyroid|Thyroid|Thyroid 0.3369 0.2594 0.2336 0.4470 0.2791 0.4311 0.3823 0.3498 0.2819 0.3457 0.2683 0.2608 0.4367 0.2823 0.4335 0.3789 0.3643 hom 2930.80 90 3 125648356 . T C 2930.80 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=55.25;MQ0=0;QD=32.56;VQSLOD=6.5407;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2964,229,0 3 125725269 125725272 AACA - exonic SLC41A3 stopgain SLC41A3:NM_001008486:exon11:c.1394_1397del:p.L465fs*0,SLC41A3:NM_001008485:exon12:c.1502_1505del:p.L501fs*0 0.17 0.12 0.13 0.15 0.22 0.24 0.1835 0.1368 0.0953 0.1507 0.1247 0.2047 0.2086 0.2272 0.18 0.12 0.22 0.011 . rs377657493 COSM1579666 2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1764 0.1323 0.1074 0.2400 0.1464 0.1192 0.2012 0.1897 0.2196 0.1573 0.1369 0.1559 0.2550 0.1321 0.1239 0.1798 0.1281 het 865.86 72 3 125725268 . TAACA T 865.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.639;DP=72;FS=3.905;HRun=0;HaplotypeScore=323.2479;MQ=58.18;MQ0=0;MQRankSum=0.461;QD=12.03;ReadPosRankSum=0.461;set=variant2 GT:AD:DP:GQ:PL 0/1:51,21:72:99:905,0,3495 3 125726048 125726048 G C exonic SLC41A3 synonymous SNV SLC41A3:NM_001008486:exon10:c.C1167G:p.L389L,SLC41A3:NM_001008487:exon10:c.C1197G:p.L399L,SLC41A3:NM_001164475:exon10:c.C924G:p.L308L,SLC41A3:NM_001008485:exon11:c.C1275G:p.L425L,SLC41A3:NM_017836:exon11:c.C1275G:p.L425L 0.67 0.94 0.55 0.5 0.62 0.6 0.6096 0.8988 0.4144 0.4914 0.5303 0.6268 0.6437 0.5852 0.72 0.89 0.63 0.77 0.66 rs2279819 COSM3759697;COSM3759696 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5942 0.9017 0.4259 0.7334 0.4763 0.5270 0.6248 0.6182 0.5830 0.6607 0.8980 0.4892 0.6987 0.4635 0.5318 0.5900 0.5486 hom 2118.85 69 3 125726048 . G C 2118.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.477;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=58.85;MQ0=0;MQRankSum=1.528;QD=30.71;ReadPosRankSum=-1.630;VQSLOD=8.6186;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,68:69:99:2152,133,0 3 125775228 125775228 T C exonic SLC41A3 synonymous SNV SLC41A3:NM_001008487:exon1:c.A168G:p.T56T 0.99 0.98 1. 1. 1. 1. 0.9980 0.9781 0.9990 0.9999 1 1.0000 0.9989 1 0.99 0.98 1. 0.99 0.98 rs7613944 COSM4157219 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9765 0.9988 1 0.9999 1 1.0000 0.9996 0.9998 0.9939 0.9794 0.9952 1 1 1 0.9999 0.9969 hom 4151.08 147 3 125775228 . T C 4151.08 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7447;MQ=59.26;MQ0=0;QD=28.24;VQSLOD=6.8464;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4150,331,0 3 125786879 125786879 T C exonic SLC41A3 nonsynonymous SNV SLC41A3:NM_001008485:exon2:c.A184G:p.T62A,SLC41A3:NM_001008486:exon2:c.A184G:p.T62A,SLC41A3:NM_017836:exon2:c.A184G:p.T62A 0.99 0.97 1. 1. 1. 1. 0.9974 0.9720 0.9988 1 1 0.9999 0.9989 0.9999 0.99 0.97 1. 0.99 0.98 rs4234270 . . . . . . . . . . . . . 0.604 0.066 T 0.0 0.026 B 0.0 0.040 B 0.089 0.204 N 1 0.189 P -1.085 0.010 N 1.55 0.299 T 0.84 0.038 N 0.007 0.358 -1.030 0.205 T 0.000 0.000 T . . . -2.123 0.006 0.001 0.474 0.038 0.000 0.003 N c -1.749 -1.755 0.355 0.197 0.732 0.924 0 -4.75 0.030 -1.512 0.023 -0.513 0.050 0.000 0.063 0.002 0.062 5.073 0.139 . . . 0.9980 0.9711 0.9987 1 1 1 0.9999 0.9996 0.9997 0.9924 0.9740 0.9952 1 1 1 0.9999 0.9969 hom 7351.46 250 3 125786879 . T C 7351.46 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2601;MQ=58.91;MQ0=0;QD=29.41;VQSLOD=8.1770;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7350,590,0 3 125826059 125826059 T C exonic ALDH1L1 nonsynonymous SNV ALDH1L1:NM_001270365:exon19:c.A2075G:p.D692G,ALDH1L1:NM_001270364:exon21:c.A2408G:p.D803G,ALDH1L1:NM_012190:exon21:c.A2378G:p.D793G 0.2 0.23 0.16 0.13 0.22 0.24 0.1886 0.2181 0.1009 0.1342 0.1242 0.2033 0.2181 0.2252 0.21 0.21 0.22 0.2 0.24 rs1127717 COSM3759700 1(large_intestine) . . . . . . . . . . . 0.105 0.327 T 0.011 0.186 B 0.058 0.313 B 0.012 0.295 N 0.997 0.508 P 1.64 0.420 L -1.01 0.762 T -4.06 0.745 D 0.187 0.260 -1.056 0.127 T 0.000 0.001 T . . . 2.622 0.376 20.3 0.984 0.407 0.763 0.371 D c -0.439 -0.362 0.999 0.376 0.615 0.372 0 3.98 0.452 3.980 0.564 1.011 0.635 0.989 0.365 0.947 0.422 10.872 0.459 Aldehyde dehydrogenase domain|Aldehyde dehydrogenase\x2c C-terminal|Aldehyde/histidinol dehydrogenase ENSG00000171084.11|ENSG00000189366.5|ENSG00000114544.11|ENSG00000241288.3|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114544.11|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000250012.1|ENSG00000114544.11|ENSG00000171084.11|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114544.11|ENSG00000241288.3|ENSG00000171084.11|ENSG00000114544.11|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114544.11|ENSG00000171084.11|ENSG00000114544.11|ENSG00000241439.1|ENSG00000171084.11|ENSG00000189366.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114544.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000241439.1|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114544.11|ENSG00000171084.11|ENSG00000171084.11|ENSG00000171084.11|ENSG00000248787.1|ENSG00000114544.11|ENSG00000171084.11|ENSG00000114547.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000250012.1|ENSG00000114544.11|ENSG00000171084.11|ENSG00000114544.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1844 0.2196 0.1143 0.2652 0.1332 0.1200 0.2024 0.1978 0.2248 0.1828 0.2263 0.1567 0.2852 0.1279 0.1242 0.1799 0.1324 het 2670.97 184 3 125826059 . T C 2670.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.733;DP=184;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3881;MQ=59.24;MQ0=0;MQRankSum=1.660;QD=14.52;ReadPosRankSum=1.738;VQSLOD=5.5978;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,102:184:99:2701,0,2172 3 125877290 125877290 G A exonic ALDH1L1 nonsynonymous SNV ALDH1L1:NM_001270364:exon3:c.C350T:p.P117L,ALDH1L1:NM_001270365:exon3:c.C320T:p.P107L,ALDH1L1:NM_012190:exon3:c.C320T:p.P107L 0.0004 . . . 0.002 . 0.0008 0.0003 0.0003 0 0 0.0014 0 0.0002 0.0008 0.0002 0.001 . . rs149080804 . . . . . . . . . . . . . 0.001 0.912 D 1.0 0.899 D 0.999 0.971 D 0.000 0.843 D 1 0.810 D 4.35 0.985 H -1.97 0.852 D -8.96 0.988 D 0.834 0.860 0.927 0.961 D 0.836 0.945 D 0.083 0.741 D 6.257 0.864 28.9 0.999 0.949 0.989 0.879 D c 0.948 0.822 1.000 0.747 0.581 0.326 0 4.84 0.620 9.822 0.983 0.998 0.613 1.000 0.715 0.602 0.289 15.449 0.749 Formyl transferase\x2c N-terminal . . 0.0006 0.0001 0.0003 0 0 0 0.0011 0.0011 0.0002 0.0005 0 0.0012 0 0 0 0.0009 0.0010 het 535.91 41 3 125877290 . G A 535.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.516;DP=41;Dels=0.00;FS=2.304;HRun=0;HaplotypeScore=3.4114;MQ=58.87;MQ0=0;MQRankSum=-0.196;QD=13.07;ReadPosRankSum=-1.216;VQSLOD=4.1976;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,19:41:99:566,0,618 3 126194076 126194076 T C exonic ZXDC synonymous SNV ZXDC:NM_001040653:exon1:c.A633G:p.P211P,ZXDC:NM_025112:exon1:c.A633G:p.P211P 0.55 0.28 0.57 0.57 0.67 0.74 0.6771 0.3859 0.6122 0.6011 0.7073 0.6936 0.7078 0.7578 0.58 0.37 0.68 0.45 0.2 rs812367 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6404 0.3325 0.5737 0.6391 0.5660 0.6507 0.6789 0.6389 0.7447 0.5616 0.3412 0.6075 0.6093 0.5841 0.6336 0.6618 0.6407 hom 439.77 17 3 126194076 . T C 439.77 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.87;VQSLOD=13.0454;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:45.05:473,45,0 3 126202257 126202257 G A exonic UROC1 synonymous SNV UROC1:NM_144639:exon19:c.C1845T:p.A615A,UROC1:NM_001165974:exon20:c.C2025T:p.A675A 0.41 0.19 0.47 0.49 0.52 0.47 0.4724 0.2363 0.4811 0.4732 0.4733 0.5058 0.5156 0.4763 0.43 0.23 0.53 0.35 0.61 rs1687477 COSM1484555;COSM445508 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign not_specified RCV000118813.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4802 0.2312 0.4903 0.4773 0.4791 0.4627 0.5168 0.4790 0.4745 0.4134 0.2306 0.4868 0.4735 0.4858 0.4444 0.4967 0.4570 het 1146.15 85 3 126202257 . G A 1146.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.476;DP=85;Dels=0.00;FS=4.428;HRun=0;HaplotypeScore=0.8321;MQ=59.78;MQ0=0;MQRankSum=-0.390;QD=13.48;ReadPosRankSum=0.408;VQSLOD=6.3619;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,44:85:99:1176,0,1139 3 126708453 126708453 T C exonic PLXNA1 synonymous SNV PLXNA1:NM_032242:exon1:c.T1017C:p.T339T 0.47 0.71 0.35 0.42 0.34 0.43 0.3556 0.6626 0.2869 0.4243 0.3018 0.3096 0.3192 0.3834 0.43 0.65 0.32 0.6 0.34 rs6773789 COSM445515 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3466 0.6656 0.2938 0.3461 0.4194 0.3029 0.3073 0.3441 0.3796 0.4040 0.6467 0.2871 0.2980 0.4202 0.3104 0.2978 0.3094 het 2467.02 193 3 126708453 . T C 2467.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.802;DP=193;Dels=0.00;FS=1.841;HRun=1;HaplotypeScore=3.8853;MQ=59.90;MQ0=0;MQRankSum=0.861;QD=12.78;ReadPosRankSum=-0.368;VQSLOD=5.5830;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,91:193:99:2497,0,3039 3 126723549 126723549 C T exonic PLXNA1 synonymous SNV PLXNA1:NM_032242:exon4:c.C1614T:p.H538H 0.15 0.096 0.055 0.2 0.12 0.26 0.1878 0.1348 0.1057 0.2535 0.2762 0.1667 0.16 0.2490 0.097 0.091 0.1 0.065 0.049 rs28710010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1158 0.0972 0.0427 0.0526 0.1751 0.1427 0.1053 0.1102 0.2079 0.1045 0.0903 0.0418 0.0397 0.1691 0.1346 0.1024 0.1230 het 150.77 18 3 126723549 . C T 150.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.421;DP=18;Dels=0.00;FS=1.778;HRun=0;HaplotypeScore=1.8640;MQ=60.00;MQ0=0;MQRankSum=0.222;QD=8.38;ReadPosRankSum=-0.133;VQSLOD=5.3427;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:181,0,306 3 126726705 126726705 A G exonic PLXNA1 synonymous SNV PLXNA1:NM_032242:exon8:c.A2061G:p.T687T 0.15 0.1 0.06 0.2 0.13 0.26 0.1231 0.1048 0.0435 0.1747 0.1375 0.1098 0.1142 0.2124 0.11 0.099 0.11 0.087 0.15 rs9876615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1191 0.1025 0.0437 0.0551 0.1736 0.1422 0.1128 0.1157 0.2062 0.1140 0.1007 0.0442 0.0430 0.1700 0.1422 0.1134 0.1309 het 1518.19 114 3 126726705 . A G 1518.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.344;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=58.91;MQ0=0;MQRankSum=-1.374;QD=13.32;ReadPosRankSum=-0.009;VQSLOD=5.7095;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,62:114:99:1548,0,1427 3 126735453 126735453 C T exonic PLXNA1 synonymous SNV PLXNA1:NM_032242:exon15:c.C3108T:p.T1036T 0.15 0.095 0.055 0.21 0.12 0.26 0.1159 0.0962 0.0404 0.1773 0.1331 0.0983 0.1114 0.2136 0.098 0.091 0.1 0.065 0.17 rs9858521 COSM4416353 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1127 0.0945 0.0403 0.0539 0.1764 0.1374 0.1006 0.1084 0.2109 0.1047 0.0910 0.0406 0.0397 0.1708 0.1346 0.1023 0.1219 het 1479.67 114 3 126735453 . C T 1479.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.783;DP=114;Dels=0.00;FS=7.340;HRun=0;HaplotypeScore=3.3293;MQ=59.43;MQ0=0;MQRankSum=0.256;QD=12.98;ReadPosRankSum=0.583;VQSLOD=4.7457;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,56:114:99:1510,0,1631 3 126737268 126737268 C A exonic PLXNA1 synonymous SNV PLXNA1:NM_032242:exon19:c.C3792A:p.L1264L 0.54 0.33 0.61 0.6 0.66 0.59 0.6394 0.4093 0.6044 0.5264 0.7476 0.6952 0.6749 0.5987 0.6 0.43 0.69 0.46 0.64 rs4679323 COSM3759705 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6430 0.4077 0.5992 0.6523 0.5287 0.7506 0.6956 0.6549 0.5985 0.6180 0.4257 0.5995 0.6689 0.5019 0.7428 0.7074 0.7094 het 1090.56 100 3 126737268 . C A 1090.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.958;DP=100;Dels=0.00;FS=2.719;HRun=1;HaplotypeScore=2.9329;MQ=59.21;MQ0=0;MQRankSum=-1.191;QD=10.91;ReadPosRankSum=1.212;VQSLOD=5.6804;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,42:100:99:1121,0,1611 3 127323830 127323830 C T exonic MCM2 synonymous SNV MCM2:NM_004526:exon4:c.C504T:p.I168I 0.6 0.48 0.61 0.63 0.78 0.52 0.6846 0.5303 0.5310 0.6687 0.7434 0.7589 0.7129 0.5728 0.68 0.53 0.75 0.65 0.51 rs893293 COSM4157232 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6853 0.5300 0.5509 0.7531 0.6575 0.7462 0.7627 0.7117 0.5739 0.6787 0.5422 0.5955 0.7219 0.6582 0.75 0.7475 0.6745 hom 3900.20 107 3 127323830 . C T 3900.20 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8055;MQ=59.78;MQ0=0;QD=36.45;VQSLOD=9.5149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3900,316,0 3 127337927 127337927 A G exonic MCM2 nonsynonymous SNV MCM2:NM_004526:exon13:c.A2071G:p.K691E . . . . . . 0.0001 0.0001 0 0 0 0.0002 0 0 0.0002 . 0.0002 . . rs150514271 . . . . . . . . . . . . . 0.831 0.029 T 0.355 0.319 B 0.115 0.303 B 0.000 0.843 D 1 0.810 D -0.28 0.037 N 3.39 0.057 T -0.26 0.112 N 0.25 0.305 -0.922 0.453 T 0.009 0.031 T 0.028 0.507 D 1.490 0.241 13.26 0.970 0.314 0.959 0.665 D c -0.218 0.046 1.000 0.747 0.707 0.730 0 5.46 0.799 8.611 0.906 1.028 0.649 1.000 0.715 0.995 0.604 15.515 0.754 MCM domain|P-loop containing nucleoside triphosphate hydrolase . . 8.231e-05 6.644e-05 0 0 0 0 0.0002 0 0 0.0001 0 0 0 0 0 0.0003 0 het 395.59 30 3 127337927 . A G 395.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.572;DP=30;Dels=0.00;FS=3.873;HRun=0;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;MQRankSum=0.456;QD=13.19;ReadPosRankSum=-0.995;VQSLOD=3.9069;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,15:30:99:426,0,459 3 127394820 127394820 C T exonic ABTB1 synonymous SNV ABTB1:NM_172027:exon4:c.C183T:p.R61R 0.12 0.11 0.12 0.011 0.22 0.12 0.1705 0.1234 0.0755 0.0087 0.2958 0.2090 0.1902 0.1510 0.17 0.11 0.2 0.076 0.21 rs35703629 COSM4157234 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1677 0.1119 0.0840 0.2217 0.0064 0.2828 0.2041 0.1661 0.1487 0.1787 0.1095 0.1014 0.2417 0.0068 0.2735 0.2171 0.2004 het 235.01 27 3 127394820 . C T 235.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.775;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7197;MQ=58.61;MQ0=0;MQRankSum=0.962;QD=8.70;ReadPosRankSum=1.012;VQSLOD=5.6423;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,11:27:99:265,0,490 3 127540635 127540635 C T exonic MGLL synonymous SNV MGLL:NM_001003794:exon2:c.G27A:p.R9R,MGLL:NM_001256585:exon2:c.G57A:p.R19R,MGLL:NM_007283:exon2:c.G57A:p.R19R 0.016 . 0.022 . 0.051 0.012 0.0305 0.0059 0.0176 0.0001 0.0445 0.0435 0.0278 0.0122 0.032 0.0085 0.042 0.022 0.074 rs11538698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0295 0.0059 0.0173 0.0486 0.0001 0.0408 0.0420 0.0332 0.0111 0.0294 0.0068 0.0239 0.0331 0 0.0413 0.0429 0.0347 het 1518.95 132 3 127540635 . C T 1518.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.344;DP=132;Dels=0.00;FS=5.358;HRun=1;HaplotypeScore=1.9120;MQ=59.50;MQ0=0;MQRankSum=-0.132;QD=11.51;ReadPosRankSum=0.114;VQSLOD=5.5871;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,63:132:99:1549,0,1804 3 127641968 127641968 C A exonic KBTBD12 nonsynonymous SNV KBTBD12:NM_207335:exon1:c.C64A:p.Q22K 0.69 0.85 0.49 0.67 0.57 0.77 0.6095 0.8118 0.5014 0.6316 0.5506 0.5708 0.5658 0.7356 0.64 0.81 0.57 0.74 . rs4141499 COSM1418734;COSM1418735 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P -0.195 0.042 N -0.47 0.701 T 0.49 0.030 N 0.025 0.007 -0.964 0.383 T 0.000 0.000 T . . . -0.493 0.056 0.228 0.190 0.006 0.030 0.078 N c -0.751 -0.588 0.459 0.206 0.487 0.133 0 4.54 0.551 4.061 0.570 0.124 0.212 0.997 0.399 0.994 0.587 12.990 0.578 SKP1/BTB/POZ domain . . 0.5983 0.8167 0.4964 0.5562 0.6348 0.5503 0.5700 0.5779 0.7353 0.6388 0.8140 0.5610 0.5232 0.6431 0.5418 0.5700 0.5688 het 964.91 62 3 127641968 . C A 964.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.549;DP=62;Dels=0.00;FS=2.216;HRun=1;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=0.545;QD=15.56;ReadPosRankSum=-1.033;VQSLOD=6.2958;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,37:62:99:995,0,618 3 127642814 127642814 G C exonic KBTBD12 nonsynonymous SNV KBTBD12:NM_207335:exon1:c.G910C:p.V304L 0.19 0.17 0.085 0.23 0.12 0.33 0.1573 0.1591 0.0740 0.2035 0.1184 0.1310 0.1607 0.3123 0.14 0.17 0.13 0.15 . rs61268888 COSM3759708;COSM3759707 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.647 0.049 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.41 0.124 N -0.19 0.659 T -0.38 0.134 N 0.024 0.008 -1.069 0.096 T 0.000 0.000 T . . . -0.948 0.034 0.020 0.556 0.053 0.139 0.179 N c -1.070 -1.020 0.005 0.108 0.554 0.246 0 -1.1 0.093 0.547 0.228 0.093 0.196 0.000 0.063 0.714 0.313 2.481 0.043 Kelch-type beta propeller . . 0.1525 0.1605 0.0755 0.1412 0.2022 0.1240 0.1303 0.1427 0.3107 0.1406 0.1604 0.0859 0.1192 0.1897 0.1272 0.1298 0.1493 het 1092.19 90 3 127642814 . G C 1092.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.870;DP=90;Dels=0.00;FS=0.795;HRun=0;HaplotypeScore=4.1434;MQ=58.81;MQ0=0;MQRankSum=1.311;QD=12.14;ReadPosRankSum=0.703;VQSLOD=5.2273;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,37:90:99:1122,0,1426 3 127983495 127983495 T C exonic EEFSEC synonymous SNV EEFSEC:NM_021937:exon4:c.T657C:p.D219D 0.84 0.7 0.86 0.99 0.88 0.83 0.8724 0.7194 0.9146 0.9965 0.8775 0.8811 0.8811 0.8367 0.82 0.72 0.88 0.79 0.92 rs2811544 COSM4408691 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8772 0.7144 0.9139 0.8799 0.9963 0.8804 0.8810 0.8809 0.8338 0.8380 0.7206 0.8508 0.8742 0.9975 0.8847 0.8749 0.8640 hom 7694.14 246 3 127983495 . T C 7694.14 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.2066;MQ=59.28;MQ0=0;QD=31.28;VQSLOD=7.4322;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,245:246:99:7661,596,0 3 128181777 128181777 A G exonic DNAJB8 synonymous SNV DNAJB8:NM_153330:exon3:c.T312C:p.F104F 0.47 0.39 0.54 0.41 0.64 0.45 0.5563 0.4095 0.4421 0.3469 0.7625 0.6283 0.5905 0.4626 0.55 0.41 0.62 0.5 0.55 rs2659690 COSM4002439 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5584 0.4089 0.4530 0.5877 0.3475 0.7631 0.6270 0.5597 0.4610 0.5703 0.4211 0.4821 0.6026 0.3424 0.7638 0.6371 0.6276 het 1320.72 119 3 128181777 . A G 1320.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.799;DP=119;Dels=0.00;FS=0.676;HRun=0;HaplotypeScore=5.4387;MQ=58.82;MQ0=0;MQRankSum=1.070;QD=11.10;ReadPosRankSum=-0.542;VQSLOD=5.4372;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,54:119:99:1351,0,1667 3 128182074 128182074 G A exonic DNAJB8 synonymous SNV DNAJB8:NM_153330:exon3:c.C15T:p.Y5Y 0.31 0.13 0.36 0.49 0.28 0.36 0.3062 0.1504 0.4900 0.5481 0.1691 0.2607 0.3063 0.3900 0.23 0.15 0.26 0.3 0.26 rs2981026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3105 0.1416 0.4779 0.2921 0.5473 0.1664 0.2601 0.3147 0.3706 0.2370 0.1471 0.4329 0.2848 0.5527 0.1657 0.2583 0.2654 het 1543.31 132 3 128182074 . G A 1543.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.119;DP=132;Dels=0.00;FS=2.927;HRun=0;HaplotypeScore=2.3696;MQ=59.51;MQ0=0;MQRankSum=-0.961;QD=11.69;ReadPosRankSum=-0.486;VQSLOD=6.2222;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,57:132:99:1573,0,2184 3 128204951 128204951 C T exonic GATA2 nonsynonymous SNV GATA2:NM_001145662:exon3:c.G490A:p.A164T,GATA2:NM_032638:exon3:c.G490A:p.A164T,GATA2:NM_001145661:exon4:c.G490A:p.A164T 0.23 0.22 0.24 0.38 0.18 0.15 0.2056 0.1903 0.3041 0.3840 0.1997 0.1705 0.2342 0.1941 0.16 0.17 0.16 0.21 0.14 rs2335052 COSM445531 13(soft_tissue);1(large_intestine) Benign|Likely benign not_specified|Lymphedema\x2c_primary\x2c_with_myelodysplasia RCV000121149.2|RCV000332089.1 MedGen|MedGen:OMIM:Orphanet CN169374|C3279664:614038:ORPHA3226 . . . . . . 0.403 0.104 T 0.013 0.154 B 0.025 0.193 B 0.004 0.337 N 0.729 0.298 P 0 0.065 N -4.32 0.972 D -0.53 0.164 N 0.117 0.129 -1.065 0.107 T 0.000 0.000 T . . . 1.482 0.240 13.22 0.990 0.494 0.910 0.525 D c -0.614 -0.459 1.000 0.489 0.543 0.218 0 1.83 0.242 0.635 0.241 0.739 0.307 0.716 0.285 0.999 0.750 9.555 0.383 . . . 0.1973 0.1794 0.2748 0.2254 0.3788 0.1766 0.1538 0.1954 0.1823 0.1800 0.1769 0.2524 0.2185 0.3781 0.1862 0.1533 0.1933 het 433.03 28 3 128204951 . C T 433.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.952;DP=28;Dels=0.00;FS=2.049;HRun=1;HaplotypeScore=1.8245;MQ=57.48;MQ0=0;MQRankSum=-0.395;QD=15.47;ReadPosRankSum=1.973;VQSLOD=3.9535;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,16:28:99:463,0,306 3 128205860 128205860 G C exonic GATA2 synonymous SNV GATA2:NM_001145662:exon2:c.C15G:p.P5P,GATA2:NM_032638:exon2:c.C15G:p.P5P,GATA2:NM_001145661:exon3:c.C15G:p.P5P 0.71 0.82 0.7 0.69 0.66 0.62 0.6943 0.7919 0.7239 0.7209 0.5910 0.6778 0.7198 0.6870 0.69 0.78 0.65 0.6 0.28 rs1573858 COSM3749812 1(thyroid);4(large_intestine) Benign|Benign not_specified|Lymphedema\x2c_primary\x2c_with_myelodysplasia RCV000244510.1|RCV000395196.1 MedGen|MedGen:OMIM:Orphanet CN169374|C3279664:614038:ORPHA3226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6638 0.7860 0.7088 0.7512 0.7079 0.5323 0.6386 0.6734 0.6731 0.6532 0.7816 0.7236 0.7318 0.7293 0.5255 0.5987 0.5903 hom 308.83 10 3 128205860 . G C 308.83 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;QD=30.88;VQSLOD=7.8156;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:342,30,0 3 128344786 128344786 G A exonic RPN1 synonymous SNV RPN1:NM_002950:exon7:c.C1206T:p.D402D 0.24 0.14 0.2 0.41 0.21 0.24 0.2243 0.1456 0.1909 0.4215 0.1505 0.2246 0.2159 0.2233 0.2 0.14 0.23 0.15 0.25 rs1126828 COSM149463 1(stomach);1(haematopoietic_and_lymphoid_tissue);11(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2239 0.1434 0.1963 0.1878 0.4187 0.1514 0.2295 0.2281 0.2278 0.2038 0.1467 0.2255 0.2086 0.4323 0.1454 0.2251 0.2 het 1005.13 65 3 128344786 . G A 1005.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.268;DP=65;Dels=0.00;FS=1.027;HRun=0;HaplotypeScore=1.8932;MQ=58.27;MQ0=0;MQRankSum=-0.047;QD=15.46;ReadPosRankSum=0.845;VQSLOD=5.4659;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,38:65:99:1035,0,785 3 128356852 128356852 C T exonic RPN1 synonymous SNV RPN1:NM_002950:exon3:c.G423A:p.P141P 0.63 0.61 0.59 0.75 0.63 0.57 0.6094 0.5956 0.5901 0.7493 0.6143 0.6089 0.6222 0.5574 0.6 0.58 0.61 0.59 0.63 rs1697 COSM3759710 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6119 0.5957 0.5893 0.6243 0.7455 0.6137 0.6119 0.6231 0.5623 0.6160 0.5963 0.5659 0.6490 0.7754 0.6144 0.6125 0.6207 hom 3418.43 100 3 128356852 . C T 3418.43 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.81;MQ0=0;QD=34.18;VQSLOD=10.0473;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3418,277,0 3 128525253 128525253 C T exonic RAB7A synonymous SNV RAB7A:NM_004637:exon4:c.C219T:p.L73L 0.019 0.0008 0.033 . 0.068 0.0051 0.0434 0.0099 0.0397 0.0006 0.0591 0.0623 0.0496 0.0065 0.045 0.012 0.062 0.033 0.082 rs4548 COSM3759713 1(large_intestine) Benign|Likely benign not_specified|Charcot-Marie-Tooth\x2c_Type_2 RCV000127682.1|RCV000291196.1 MedGen|MedGen CN169374|CN239171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0442 0.0091 0.0406 0.0811 5.798e-05 0.0568 0.0611 0.0549 0.0065 0.0393 0.0115 0.0406 0.0695 0 0.0570 0.0549 0.0399 het 2566.32 195 3 128525253 . C T 2566.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.436;DP=195;Dels=0.00;FS=5.077;HRun=1;HaplotypeScore=6.9927;MQ=59.34;MQ0=0;MQRankSum=-0.730;QD=13.16;ReadPosRankSum=0.369;VQSLOD=4.6072;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,100:195:99:2596,0,2244 3 128614185 128614185 A C exonic ACAD9 synonymous SNV ACAD9:NM_014049:exon4:c.A379C:p.R127R 0.54 0.85 0.43 0.62 0.29 0.38 0.4018 0.7634 0.4471 0.6562 0.3028 0.3159 0.3825 0.3897 0.45 0.74 0.3 0.64 0.28 rs1680778 COSM3759716 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Acyl-CoA_dehydrogenase_family\x2c_member_9\x2c_deficiency_of RCV000152729.3|RCV000293617.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1970173:611126:ORPHA99901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3832 0.7658 0.4410 0.4113 0.6499 0.2829 0.2950 0.3684 0.3708 0.4393 0.7508 0.4342 0.39 0.6267 0.2704 0.2852 0.3205 het 533.73 58 3 128614185 . A C 533.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.303;DP=58;Dels=0.00;FS=5.719;HRun=0;HaplotypeScore=1.8110;MQ=58.30;MQ0=0;MQRankSum=1.467;QD=9.20;ReadPosRankSum=0.025;VQSLOD=4.8426;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,23:58:99:564,0,787 3 128890350 128890350 G A exonic CNBP synonymous SNV CNBP:NM_001127192:exon3:c.C156T:p.D52D,CNBP:NM_001127193:exon3:c.C156T:p.D52D,CNBP:NM_001127194:exon3:c.C135T:p.D45D,CNBP:NM_001127195:exon3:c.C135T:p.D45D,CNBP:NM_001127196:exon3:c.C135T:p.D45D,CNBP:NM_003418:exon3:c.C156T:p.D52D 0.76 0.36 0.87 0.89 0.98 0.86 0.8900 0.4312 0.8706 0.8834 0.9522 0.9677 0.9119 0.8555 0.79 0.44 0.97 0.65 0.93 rs4303883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9001 0.4242 0.8754 0.9560 0.8817 0.9570 0.9709 0.9207 0.8543 0.8129 0.4454 0.8902 0.9603 0.8795 0.9522 0.9711 0.9367 hom 4151.98 136 3 128890350 . G A 4151.98 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.681;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8625;MQ=58.58;MQ0=0;MQRankSum=-1.605;QD=30.53;ReadPosRankSum=0.892;VQSLOD=8.3839;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,135:136:99:4151,325,0 3 129140489 129140489 T C exonic EFCAB12 synonymous SNV EFCAB12:NM_207307:exon2:c.A207G:p.T69T 0.13 0.23 0.099 0.03 0.11 0.15 0.1004 0.1916 0.0698 0.0230 0.0416 0.0973 0.1303 0.1423 0.13 0.18 0.099 0.16 . rs3774788 COSM3759722 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0968 0.1893 0.0713 0.1708 0.0239 0.0394 0.0953 0.1099 0.1408 0.1051 0.1891 0.0766 0.1523 0.0173 0.0401 0.0837 0.0723 het 832.81 61 3 129140489 . T C 832.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.745;DP=61;Dels=0.00;FS=6.817;HRun=0;HaplotypeScore=1.7262;MQ=58.69;MQ0=0;MQRankSum=0.355;QD=13.65;ReadPosRankSum=0.340;VQSLOD=4.4894;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,33:61:99:863,0,783 3 129152089 129152089 G A exonic MBD4 synonymous SNV MBD4:NM_001276273:exon5:c.C459T:p.G153G,MBD4:NM_001276270:exon6:c.C1395T:p.G465G,MBD4:NM_001276271:exon6:c.C1413T:p.G471G,MBD4:NM_001276272:exon6:c.C1413T:p.G471G,MBD4:NM_003925:exon6:c.C1413T:p.G471G 0.17 0.23 0.094 0.091 0.11 0.27 0.1224 0.2199 0.0683 0.0756 0.0419 0.0981 0.1435 0.2532 0.14 0.22 0.1 0.17 0.082 rs140696 COSM3759723 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1163 0.2213 0.0699 0.1695 0.0755 0.0398 0.0962 0.1187 0.2482 0.1152 0.2107 0.0682 0.1490 0.0699 0.0395 0.0863 0.0786 het 1094.05 99 3 129152089 . G A 1094.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.368;DP=99;Dels=0.00;FS=0.820;HRun=0;HaplotypeScore=3.4944;MQ=59.34;MQ0=0;MQRankSum=-1.533;QD=11.05;ReadPosRankSum=0.213;VQSLOD=5.6494;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,48:99:99:1124,0,1223 3 129155670 129155670 C T exonic MBD4 nonsynonymous SNV MBD4:NM_001276270:exon3:c.G817A:p.A273T,MBD4:NM_001276271:exon3:c.G817A:p.A273T,MBD4:NM_001276272:exon3:c.G817A:p.A273T,MBD4:NM_003925:exon3:c.G817A:p.A273T 0.082 0.063 0.069 0.071 0.099 0.11 0.0811 0.0691 0.0557 0.0581 0.0402 0.0864 0.1101 0.1114 0.081 0.067 0.088 0.098 0.074 rs10342 COSM3759724 1(large_intestine) . . . . . . . . . . . 0.305 0.149 T 0.024 0.200 B 0.007 0.166 B 0.354 0.043 N 1 0.090 P 1.055 0.270 L -3.05 0.936 D -0.9 0.249 N 0.018 0.006 -0.718 0.596 T 0.046 0.196 T . . . 0.534 0.145 7.685 0.837 0.144 0.064 0.123 N c -1.093 -1.093 1.000 0.462 0.722 0.854 0 -0.944 0.098 0.275 0.183 0.065 0.171 0.001 0.137 0.006 0.095 1.921 0.031 . ENSG00000172771.7|ENSG00000163913.7|ENSG00000163913.7 Adipose_Subcutaneous|Heart_Left_Ventricle|Nerve_Tibial 0.0801 0.0692 0.0559 0.1651 0.0601 0.0372 0.0842 0.0952 0.1097 0.0684 0.0690 0.0513 0.1490 0.0537 0.0387 0.0764 0.0612 het 1948.13 216 3 129155670 . C T 1948.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.961;DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7877;MQ=59.51;MQ0=0;MQRankSum=0.328;QD=9.02;ReadPosRankSum=0.690;VQSLOD=5.9850;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:135,81:216:99:1978,0,3627 3 129275206 129275206 C T exonic PLXND1 synonymous SNV PLXND1:NM_015103:exon36:c.G5727A:p.Q1909Q 0.23 0.33 0.2 0.21 0.14 0.24 0.1679 0.2867 0.2203 0.2328 0.0794 0.1233 0.1817 0.2374 0.18 0.28 0.13 0.27 0.15 rs11920311 COSM5619088 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1676 0.2897 0.2231 0.1659 0.2244 0.0775 0.1258 0.1515 0.2349 0.1705 0.2904 0.1878 0.1623 0.2311 0.0782 0.1185 0.1166 het 2990.15 224 3 129275206 . C T 2990.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.384;DP=224;Dels=0.00;FS=2.273;HRun=1;HaplotypeScore=1.8255;MQ=59.28;MQ0=0;MQRankSum=-0.148;QD=13.35;ReadPosRankSum=-0.306;VQSLOD=6.7895;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,113:224:99:3020,0,3082 3 129281980 129281980 C T exonic PLXND1 nonsynonymous SNV PLXND1:NM_015103:exon26:c.G4625A:p.S1542N 1. 1. 1. 1. 1. 1. 0.9999 1 0.9999 1 1 0.9999 1 0.9999 1. 1. 1. 0.87 0.75 rs2713625 COSM4157247;COSM4157248 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -1.05 0.011 N 2.9 0.101 T 3.46 0.001 N 0.084 0.175 -0.971 0.369 T 0.000 0.000 T . . . 1.026 0.192 10.81 0.279 0.014 0.127 0.173 N c -0.725 -0.505 1.000 0.747 0.722 0.854 0 4.09 0.469 4.247 0.583 0.154 0.240 1.000 0.715 0.994 0.587 9.644 0.388 Plexin\x2c cytoplasmic RasGAP domain . . 0.9999 1 0.9998 1 1 1 0.9999 1 0.9999 1.0000 1 1 1 1 1 0.9999 1 hom 1422.14 46 3 129281980 . C T 1422.14 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.657;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8301;MQ=58.99;MQ0=0;MQRankSum=1.657;QD=30.92;ReadPosRankSum=0.151;VQSLOD=8.1945;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,45:46:99:1455,117,0 3 129284818 129284818 A C exonic PLXND1 nonsynonymous SNV PLXND1:NM_015103:exon24:c.T4234G:p.L1412V 0.18 0.22 0.19 0.003 0.31 0.16 0.2239 0.2136 0.1322 0.0008 0.2346 0.2753 0.2693 0.1977 0.26 0.22 0.28 0.2 0.22 rs2625973 COSM3759727;COSM3759726 1(large_intestine) . . . . . . . . . . . 0.163 0.234 T 0.98 0.899 D 0.95 0.875 D 0.000 0.629 D 0.001 0.452 P 2.19 0.618 M 2.34 0.164 T -1.51 0.368 N 0.251 0.442 -1.040 0.171 T 0.000 0.000 T . . . 2.684 0.384 20.7 0.990 0.497 0.799 0.394 D c 0.125 0.028 1.000 0.454 0.672 0.522 0 2.2 0.268 1.777 0.380 0.065 0.171 1.000 0.715 0.997 0.653 9.437 0.376 Plexin\x2c cytoplasmic RasGAP domain|Rho GTPase activation protein ENSG00000242551.2 Prostate 0.2215 0.2171 0.1399 0.3113 0.0008 0.2334 0.2766 0.2368 0.1971 0.2290 0.2153 0.1671 0.3146 0 0.2344 0.2617 0.2373 het 965.13 85 3 129284818 . A C 965.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.380;DP=85;Dels=0.00;FS=1.803;HRun=0;HaplotypeScore=0.9159;MQ=59.56;MQ0=0;MQRankSum=0.438;QD=11.35;ReadPosRankSum=-0.084;VQSLOD=6.9170;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,38:85:99:995,0,1248 3 129286413 129286413 G C exonic PLXND1 synonymous SNV PLXND1:NM_015103:exon22:c.C4008G:p.L1336L 0.52 0.6 0.38 0.74 0.35 0.44 0.4176 0.5764 0.4073 0.7554 0.3259 0.3452 0.4226 0.4505 0.4 0.55 0.32 0.49 0.25 rs2245285 COSM3759729;COSM3759728 2(breast);3(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3903 0.5702 0.3921 0.4491 0.7514 0.2809 0.3152 0.3652 0.4300 0.4022 0.5656 0.3609 0.4503 0.7639 0.2881 0.3015 0.3208 het 625.46 45 3 129286413 . G C 625.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.034;DP=45;Dels=0.00;FS=2.660;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.396;QD=13.90;ReadPosRankSum=-0.942;VQSLOD=5.5837;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:655,0,590 3 129286635 129286635 G A exonic PLXND1 synonymous SNV PLXND1:NM_015103:exon21:c.C3879T:p.F1293F 0.26 0.23 0.19 0.39 0.31 0.2 0.2653 0.2270 0.1620 0.3637 0.2418 0.2851 0.2995 0.2361 0.26 0.23 0.28 0.2 0.24 rs2245278 COSM3759730;COSM3759731 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2554 0.2243 0.1648 0.3134 0.3696 0.2373 0.2780 0.2575 0.2187 0.2533 0.2217 0.1890 0.3146 0.3918 0.2388 0.2627 0.2515 het 1792.23 123 3 129286635 . G A 1792.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.951;DP=123;Dels=0.00;FS=20.854;HRun=2;HaplotypeScore=0.9979;MQ=59.24;MQ0=0;MQRankSum=-0.372;QD=14.57;ReadPosRankSum=0.182;VQSLOD=2.8136;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,64:123:99:1822,0,1497 3 129291751 129291751 T C exonic PLXND1 synonymous SNV PLXND1:NM_015103:exon14:c.A2871G:p.P957P 0.43 0.6 0.29 0.51 0.35 0.3 0.3429 0.5754 0.2402 0.5022 0.2858 0.3177 0.3853 0.3057 0.4 0.57 0.32 0.41 0.25 rs2244708 COSM3759734;COSM1418852 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3338 0.5811 0.2457 0.4519 0.5084 0.2751 0.3096 0.3321 0.3021 0.3857 0.5796 0.2763 0.4503 0.5130 0.2794 0.2935 0.3097 het 372.60 58 3 129291751 . T C 372.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.399;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0034;MQ=58.70;MQ0=0;MQRankSum=1.095;QD=6.42;ReadPosRankSum=0.309;VQSLOD=4.6882;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,21:58:99:403,0,963 3 129293183 129293183 T C exonic PLXND1 nonsynonymous SNV PLXND1:NM_015103:exon12:c.A2681G:p.H894R 0.99 0.96 1. 1. 1. 1. 0.9974 0.9699 0.9986 1 1 0.9998 0.9984 0.9997 0.99 0.97 1. 0.99 0.75 rs2625962 COSM3749813;COSM3749814 3(large_intestine) . . . . . . . . . . . 0.724 0.039 T 0.0 0.026 B 0.002 0.063 B 0.070 0.216 N 1.000 0.090 P 0.325 0.104 N -0.9 0.749 T -0.82 0.225 N 0.115 0.126 -0.945 0.419 T 0.000 0.000 T . . . -1.009 0.032 0.015 0.222 0.009 0.104 0.158 N c -1.080 -0.996 1.000 0.419 0.672 0.522 0 3.29 0.366 1.133 0.308 -0.025 0.128 0.650 0.279 0.168 0.210 8.875 0.343 IPT domain|Immunoglobulin E-set . . 0.9977 0.9662 0.9985 0.9993 0.9999 1 0.9998 0.9990 0.9998 0.9914 0.9704 1 0.9901 1 1 0.9999 0.9979 hom 545.75 17 3 129293183 . T C 545.75 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=58.63;MQ0=0;QD=32.10;VQSLOD=8.5184;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:48.14:579,48,0 3 129293256 129293256 T C exonic PLXND1 nonsynonymous SNV PLXND1:NM_015103:exon12:c.A2608G:p.M870V 0.51 0.72 0.36 0.51 0.41 0.44 0.4201 0.6789 0.2801 0.5042 0.3439 0.3957 0.4791 0.4366 0.49 0.67 0.39 0.47 0.32 rs2255703 COSM3759735;COSM1418855 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.392 0.132 N 1 0.090 P 0 0.065 N 1.63 0.280 T 1.33 0.009 N 0.016 0.012 -0.991 0.323 T 0.000 0.000 T . . . -2.184 0.006 0.001 0.249 0.011 0.016 0.052 N c -1.500 -1.374 0.989 0.318 0.672 0.522 0 0.907 0.184 0.096 0.149 -0.451 0.056 0.014 0.188 0.005 0.090 2.019 0.033 . ENSG00000242551.2 Prostate 0.4053 0.6804 0.2871 0.5145 0.5082 0.3250 0.3858 0.4044 0.4348 0.4623 0.6788 0.3258 0.5132 0.5167 0.3306 0.3741 0.3642 het 470.30 30 3 129293256 . T C 470.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.318;DP=30;Dels=0.00;FS=1.477;HRun=0;HaplotypeScore=2.7523;MQ=60.00;MQ0=0;MQRankSum=-0.868;QD=15.68;ReadPosRankSum=1.122;VQSLOD=5.8163;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,18:30:99:500,0,343 3 129297223 129297223 C G exonic PLXND1 synonymous SNV PLXND1:NM_015103:exon9:c.G2295C:p.T765T 0.23 0.16 0.2 0.41 0.22 0.18 0.2579 0.1981 0.2933 0.4243 0.2852 0.2482 0.3166 0.2111 0.18 0.16 0.19 0.12 0.16 rs1110168 COSM3759737;COSM3759736 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2028 0.1600 0.1760 0.2472 0.3903 0.1809 0.1953 0.2047 0.1761 0.1894 0.1563 0.1778 0.2517 0.4080 0.1857 0.1855 0.1847 het 112.40 10 3 129297223 . C G 112.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.676;DP=10;Dels=0.00;FS=2.808;HRun=1;HaplotypeScore=1.9985;MQ=60.00;MQ0=0;MQRankSum=-1.098;QD=11.24;ReadPosRankSum=1.668;VQSLOD=4.8554;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:71.47:142,0,71 3 129695954 129695954 T C exonic TRH synonymous SNV TRH:NM_007117:exon3:c.T624C:p.L208L 0.96 0.86 0.97 1. 1. 1. 0.9870 0.8643 0.9924 1 1 0.9990 0.9917 0.9998 0.95 0.86 1. 0.94 0.7 rs5662 . . Benign not_specified RCV000243771.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9886 0.8609 0.9926 0.9931 1 1 0.9992 0.9911 1.0000 0.9633 0.8724 0.9880 0.9934 1 1 0.9995 0.9949 hom 1289.23 45 3 129695954 . T C 1289.23 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.65;VQSLOD=13.4800;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1322,102,0 3 129696041 129696041 A G exonic TRH synonymous SNV TRH:NM_007117:exon3:c.A711G:p.R237R 0.96 0.86 0.97 1. 1. 1. 0.9867 0.8646 0.9924 1 1 0.9991 0.9921 0.9998 0.95 0.86 1. 0.95 0.82 rs5663 . . Benign not_specified RCV000246913.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9870 0.8600 0.9923 0.9918 1 1 0.9993 0.9924 0.9999 0.9633 0.8725 0.9881 0.9934 1 1 0.9995 0.9949 hom 1031.49 31 3 129696041 . A G 1031.49 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.25;MQ0=0;QD=33.27;VQSLOD=9.7784;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:84.26:1064,84,0 3 130162395 130162395 A G exonic COL6A5 nonsynonymous SNV COL6A5:NM_001278298:exon36:c.A6563G:p.Q2188R,COL6A5:NM_153264:exon36:c.A6563G:p.Q2188R 0.85 0.74 0.9 0.85 0.95 0.88 0.9144 0.7835 0.9072 0.8459 0.9784 0.9459 0.9319 0.8787 0.9 0.78 0.95 0.79 . rs9883988 . . . . . . . . . . . . . 0.838 0.028 T 0.0 0.026 B 0.0 0.040 B 0.490 0.050 N 1 0.090 P 0 0.065 N -0.94 0.753 T 0.42 0.112 N 0.014 0.218 -0.965 0.382 T 0.000 0.000 T . . . -1.813 0.011 0.002 0.263 0.013 0.014 0.048 N c -1.773 -1.842 0.038 0.143 0.487 0.133 0 -6.31 0.018 -0.956 0.039 -0.688 0.038 0.000 0.063 0.000 0.016 0.575 0.006 . . . 0.9163 0.7852 0.9081 0.9012 0.8383 0.9791 0.9476 0.9160 0.8799 0.8963 0.7749 0.9033 0.9172 0.8161 0.9785 0.9516 0.9520 hom 2177.24 73 3 130162395 . A G 2177.24 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.17;MQ0=0;QD=29.83;VQSLOD=8.8845;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2210,175,0 3 130174334 130174334 G A exonic COL6A5 nonsynonymous SNV COL6A5:NM_001278298:exon37:c.G6614A:p.G2205D,COL6A5:NM_153264:exon37:c.G6614A:p.G2205D 0.9 0.83 0.9 0.96 0.94 0.91 0.9319 0.8574 0.9105 0.9460 0.9813 0.9465 0.9420 0.9045 0.92 0.86 0.95 0.87 . rs819085 . . . . . . . . . . . . . 0.518 0.094 T 0.0 0.112 B 0.0 0.133 B 0.185 0.170 N 1 0.090 P 0 0.065 N -0.85 0.744 T 1.52 0.009 N 0.057 0.479 -0.985 0.339 T 0.000 0.000 T . . . 0.038 0.097 2.959 0.336 0.020 0.001 0.004 N c -1.251 -1.228 0.000 0.055 0.487 0.133 0 1.81 0.240 1.123 0.307 -0.296 0.082 0.025 0.199 0.000 0.016 1.375 0.021 . . . 0.9325 0.8578 0.9108 0.9070 0.9434 0.9832 0.9483 0.9271 0.9024 0.9243 0.8473 0.9103 0.9305 0.9248 0.9845 0.9538 0.9542 hom 456.46 19 3 130174334 . G A 456.46 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.95;MQ0=0;QD=24.02;VQSLOD=8.0357;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:36.12:489,36,0 3 130187817 130187817 T C exonic COL6A5 synonymous SNV COL6A5:NM_001278298:exon38:c.T6969C:p.I2323I,COL6A5:NM_153264:exon38:c.T6969C:p.I2323I 0.89 0.83 0.91 0.89 0.91 0.94 0.9095 0.8389 0.9421 0.8958 0.9214 0.9098 0.8935 0.9309 0.89 0.85 0.91 0.86 . rs322113 COSM4157262;COSM4157264;COSM4157263 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9100 0.8413 0.9352 0.8464 0.8901 0.9184 0.9137 0.9027 0.9300 0.8959 0.8408 0.9378 0.8377 0.8878 0.9130 0.9217 0.9246 hom 1533.69 52 3 130187817 . T C 1533.69 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=58.29;MQ0=0;QD=29.49;VQSLOD=8.4093;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1567,126,0 3 130284284 130284284 G A exonic COL6A6 nonsynonymous SNV COL6A6:NM_001102608:exon3:c.G1108A:p.A370T 0.52 0.14 0.75 0.44 0.82 0.64 0.7424 0.2406 0.8070 0.4464 0.8546 0.8466 0.7650 0.6816 0.66 0.29 0.84 0.37 . rs9830253 COSM4002456;COSM4002455 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.046 0.405 D 0.998 0.715 D 0.886 0.611 P 0.001 0.426 D 0.026 0.390 P 2.72 0.798 M -1.36 0.801 T -1.98 0.457 N 0.2 0.245 -0.903 0.477 T 0.000 0.000 T . . . 5.050 0.680 25.2 0.998 0.895 0.823 0.412 D c 0.386 0.266 0.186 0.179 0.526 0.212 0 4.08 0.467 1.799 0.382 0.953 0.551 0.176 0.238 0.254 0.228 8.037 0.295 von Willebrand factor\x2c type A . . 0.7536 0.2368 0.8053 0.8299 0.4359 0.8567 0.8474 0.7815 0.6881 0.6606 0.2490 0.7637 0.82 0.4424 0.8515 0.8590 0.8194 hom 5830 181 3 130284284 . G A 5830 Mask AC=2;AF=1.00;AN=2;DP=181;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9374;MQ=59.87;MQ0=0;QD=32.21;VQSLOD=8.9637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:181:99:5829,496,0 3 130300650 130300650 T C exonic COL6A6 synonymous SNV COL6A6:NM_001102608:exon8:c.T3793C:p.L1265L 0.58 0.29 0.78 0.44 0.86 0.66 0.7821 0.3810 0.8372 0.4301 0.8769 0.8855 0.8096 0.7075 0.73 0.42 0.88 0.47 . rs6439249 COSM4002460;COSM4002459 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7900 0.3786 0.8325 0.8522 0.4210 0.8788 0.8869 0.8236 0.7125 0.7207 0.3897 0.8043 0.8444 0.4211 0.8751 0.8935 0.8460 hom 5135.46 153 3 130300650 . T C 5135.46 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=33.57;VQSLOD=9.8774;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:5135,394,0 3 130718472 130718472 G A exonic ATP2C1 synonymous SNV ATP2C1:NM_001199182:exon25:c.G2583A:p.K861K,ATP2C1:NM_001001486:exon26:c.G2598A:p.K866K,ATP2C1:NM_001001487:exon26:c.G2598A:p.K866K,ATP2C1:NM_001199180:exon26:c.G2700A:p.K900K,ATP2C1:NM_001199181:exon26:c.G2700A:p.K900K,ATP2C1:NM_001199183:exon26:c.G2550A:p.K850K,ATP2C1:NM_001199184:exon26:c.G2550A:p.K850K,ATP2C1:NM_001199185:exon26:c.G2598A:p.K866K,ATP2C1:NM_014382:exon26:c.G2598A:p.K866K,ATP2C1:NM_001001485:exon27:c.G2598A:p.K866K,ATP2C1:NM_001199179:exon27:c.G2598A:p.K866K 0.11 0.0045 0.15 0.16 0.15 0.16 0.1558 0.0301 0.1626 0.1841 0.2207 0.1671 0.1667 0.1429 0.11 0.03 0.16 0.065 0.098 rs16835513 COSM3759755;COSM3759754 1(large_intestine) Benign|Benign Familial_benign_pemphigus|not_specified RCV000335287.1|RCV000445330.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0085106:169600:ORPHA2841:79468000|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1579 0.0298 0.1619 0.0909 0.1803 0.2249 0.1670 0.1571 0.1447 0.1402 0.0314 0.1396 0.0894 0.1636 0.2187 0.1808 0.1878 het 614.42 75 3 130718472 . G A 614.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.685;DP=75;Dels=0.00;FS=2.201;HRun=2;HaplotypeScore=0.9894;MQ=59.08;MQ0=0;MQRankSum=-2.455;QD=8.19;ReadPosRankSum=0.952;VQSLOD=3.4136;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,26:75:99:644,0,1361 3 130947435 130947435 A T exonic NEK11 nonsynonymous SNV NEK11:NM_001321222:exon11:c.A1148T:p.E383V,NEK11:NM_001321224:exon12:c.A911T:p.E304V,NEK11:NM_001146003:exon14:c.A1463T:p.E488V,NEK11:NM_001321220:exon14:c.A1463T:p.E488V,NEK11:NM_024800:exon15:c.A1463T:p.E488V,NEK11:NM_001321221:exon16:c.A1589T:p.E530V 0.49 0.18 0.59 0.41 0.7 0.72 0.6455 0.2503 0.6197 0.3902 0.6986 0.7144 0.6751 0.7444 0.56 0.26 0.71 0.43 0.61 rs3738000 COSM4002464 2(breast);3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.056 0.430 T 1.0 0.899 D 0.998 0.916 D 0.066 0.219 N 0.004 0.429 P 2.045 0.562 M -0.91 0.760 T -2.89 0.606 D 0.184 0.531 -0.868 0.507 T 0.000 0.000 T . . . 5.796 0.793 27.1 0.993 0.602 0.843 0.431 D c 0.577 0.546 0.997 0.349 0.554 0.246 0 5.67 0.876 5.099 0.642 1.088 0.866 1.000 0.715 0.995 0.604 13.427 0.603 . ENSG00000114670.9|ENSG00000114670.9 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.6503 0.2471 0.6268 0.7248 0.3871 0.6978 0.7116 0.6662 0.7411 0.5544 0.2514 0.6292 0.7053 0.3696 0.6878 0.7052 0.6592 het 2000.59 153 3 130947435 . A T 2000.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.812;DP=153;Dels=0.00;FS=2.164;HRun=0;HaplotypeScore=2.4304;MQ=58.79;MQ0=0;MQRankSum=0.949;QD=13.08;ReadPosRankSum=-0.647;VQSLOD=6.0812;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,78:153:99:2031,0,2029 3 130992385 130992385 T C exonic NEK11 nonsynonymous SNV NEK11:NM_001321222:exon13:c.T1370C:p.V457A,NEK11:NM_001321224:exon14:c.T1133C:p.V378A,NEK11:NM_001321220:exon16:c.T1685C:p.V562A,NEK11:NM_024800:exon17:c.T1685C:p.V562A,NEK11:NM_001321221:exon18:c.T1811C:p.V604A 0.19 0.31 0.18 0.28 0.054 0.067 0.1065 0.2846 0.1580 0.3115 0.0387 0.0590 0.0817 0.0715 0.13 0.27 0.06 0.17 0.074 rs16836266 . . . . . . . . . . . . . 0.612 0.064 T 0.0 0.026 B 0.001 0.040 B 0.260 0.153 N 1 0.090 P -1.78 0.003 N -0.42 0.695 T 0.22 0.047 N 0.018 0.012 -1.041 0.171 T 0.000 0.000 T . . . -1.370 0.020 0.004 0.603 0.063 0.008 0.031 N c -1.521 -1.422 0.000 0.029 0.657 0.484 0 1.66 0.230 0.406 0.206 -2.696 0.002 0.000 0.063 0.000 0.016 12.175 0.533 . . . 0.1045 0.2898 0.1567 0.0642 0.3061 0.0373 0.0586 0.0987 0.0715 0.1394 0.2820 0.1483 0.0795 0.3298 0.0389 0.0638 0.0878 het 2064.40 159 3 130992385 . T C 2064.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.567;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9528;MQ=59.50;MQ0=0;MQRankSum=-0.111;QD=12.98;ReadPosRankSum=-0.584;VQSLOD=6.5219;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,80:159:99:2094,0,1887 3 131068497 131068497 C T exonic NEK11 nonsynonymous SNV NEK11:NM_001146003:exon16:c.C1718T:p.A573V 0.033 0.0015 0.016 0.096 0.016 0.04 0.0251 0.0056 0.0095 0.0886 0.0163 0.0207 0.0220 0.0368 0.016 0.0048 0.022 0.011 0.0082 rs12637848 COSM4002465 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.056 0.381 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 N . . . -0.49 0.704 T -0.46 0.150 N . . -1.098 0.043 T 0.008 0.028 T . . . 1.288 0.219 12.21 0.950 0.255 0.069 0.128 N c -1.046 -1.094 1.000 0.407 0.539 0.216 0 -0.536 0.112 0.583 0.234 0.022 0.145 0.015 0.189 0.187 0.214 8.640 0.330 . . . 0.0249 0.0059 0.0099 0.0185 0.0853 0.0162 0.0218 0.0233 0.0368 0.0210 0.0065 0.0143 0.0199 0.0920 0.0152 0.0231 0.0286 het 1487.10 118 3 131068497 . C T 1487.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.276;DP=118;Dels=0.00;FS=1.502;HRun=0;HaplotypeScore=8.8110;MQ=58.88;MQ0=0;MQRankSum=1.095;QD=12.60;ReadPosRankSum=0.713;VQSLOD=4.3563;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,56:118:99:1517,0,1577 3 131068509 131068509 A G exonic NEK11 nonsynonymous SNV NEK11:NM_001146003:exon16:c.A1730G:p.K577R 0.033 0.0015 0.016 0.096 0.016 0.04 0.0252 0.0065 0.0095 0.0887 0.0163 0.0206 0.0220 0.0368 0.017 0.0061 0.022 0.011 0.0082 rs12632399 COSM4002466 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.318 0.136 T 0.003 0.102 B 0.004 0.093 B . . . 1 0.244 N . . . -0.48 0.703 T -0.43 0.144 N . . -1.048 0.151 T 0.009 0.034 T . . . -0.721 0.044 0.064 0.966 0.298 0.051 0.108 N c -1.137 -1.204 1.000 0.489 0.601 0.348 0 -4.61 0.031 -0.259 0.087 -0.399 0.062 0.316 0.252 0.214 0.220 17.047 0.863 . . . 0.0249 0.0065 0.0100 0.0185 0.0853 0.0162 0.0217 0.0233 0.0368 0.0211 0.0066 0.0144 0.0199 0.0920 0.0155 0.0230 0.0285 het 1620.15 116 3 131068509 . A G 1620.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.314;DP=116;Dels=0.00;FS=1.484;HRun=0;HaplotypeScore=4.0608;MQ=59.02;MQ0=0;MQRankSum=0.790;QD=13.97;ReadPosRankSum=0.806;VQSLOD=6.0836;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,57:116:99:1650,0,1686 3 131100956 131100956 C G exonic NUDT16 nonsynonymous SNV NUDT16:NM_001171905:exon2:c.C67G:p.L23V,NUDT16:NM_001171906:exon2:c.C205G:p.L69V,NUDT16:NM_152395:exon2:c.C205G:p.L69V 0.0036 0.0008 0.0086 . 0.008 0.0031 0.0077 0.0020 0.0042 0 0.0079 0.0111 0.0071 0.0043 0.0078 0.0023 0.011 0.011 . rs150437674 . . . . . . . . . . . . . 0.074 0.377 T 1.0 0.899 D 0.997 0.850 D 0.001 0.404 N 0.992 0.441 D 1.805 0.477 L 3.12 0.197 T -2.23 0.524 N 0.124 0.152 -1.124 0.021 T 0.058 0.244 T . . . 5.167 0.697 25.5 0.997 0.774 0.792 0.389 D c 0.232 0.147 1.000 0.747 0.733 0.969 0 1.8 0.240 1.852 0.388 0.870 0.379 0.998 0.411 0.963 0.446 7.342 0.257 NUDIX hydrolase domain|NUDIX hydrolase domain-like . . 0.0080 0.0022 0.0049 0.0152 0 0.0096 0.0111 0.0073 0.0043 0.0084 0.0023 0.0024 0.0166 0 0.0083 0.0129 0.0112 het 974.77 97 3 131100956 . C G 974.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.737;DP=97;Dels=0.00;FS=2.800;HRun=0;HaplotypeScore=2.3609;MQ=59.38;MQ0=0;MQRankSum=0.008;QD=10.05;ReadPosRankSum=0.518;VQSLOD=4.7853;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,43:97:99:1005,0,1411 3 132068831 132068831 C T exonic ACPP synonymous SNV ACPP:NM_001292037:exon7:c.C750T:p.L250L,ACPP:NM_001099:exon8:c.C849T:p.L283L,ACPP:NM_001134194:exon8:c.C849T:p.L283L 0.4 0.36 0.48 0.12 0.54 0.52 0.4712 0.3744 0.4016 0.1100 0.3741 0.5386 0.4625 0.5371 0.5 0.39 0.56 0.34 0.46 rs2228402 COSM3759758;COSM3759759 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4725 0.3719 0.4147 0.5503 0.1124 0.3733 0.5535 0.4912 0.5370 0.4635 0.3899 0.4177 0.5728 0.1105 0.3767 0.5639 0.4796 hom 3233.06 111 3 132068831 . C T 3233.06 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8273;MQ=58.48;MQ0=0;QD=29.13;VQSLOD=8.0258;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3266,253,0 3 132075554 132075554 T C exonic ACPP synonymous SNV ACPP:NM_001292037:exon9:c.T894C:p.Y298Y,ACPP:NM_001099:exon10:c.T993C:p.Y331Y,ACPP:NM_001134194:exon10:c.T993C:p.Y331Y 0.3 0.32 0.38 0.08 0.38 0.38 0.3390 0.3226 0.3172 0.0762 0.2700 0.3782 0.3260 0.3720 0.36 0.32 0.38 0.27 0.4 rs3181784 COSM1130341;COSM1130342 1(breast);2(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3416 0.3174 0.3267 0.4565 0.0771 0.2643 0.3865 0.3595 0.3712 0.3394 0.3290 0.3115 0.4735 0.0667 0.2731 0.3888 0.3459 hom 7206.07 202 3 132075554 . T C 7206.07 Mask AC=2;AF=1.00;AN=2;DP=202;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8096;MQ=58.32;MQ0=0;QD=35.67;VQSLOD=8.1123;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:202:99:7205,578,0 3 132075707 132075707 A G exonic ACPP synonymous SNV ACPP:NM_001292037:exon9:c.A1047G:p.E349E,ACPP:NM_001099:exon10:c.A1146G:p.E382E 0.4 0.36 0.48 0.12 0.54 0.52 0.4718 0.3755 0.4006 0.1114 0.3747 0.5393 0.4647 0.5374 0.5 0.39 0.56 0.35 0.52 rs2071505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4731 0.3730 0.4153 0.5504 0.1138 0.3746 0.5542 0.4909 0.5373 0.4637 0.3901 0.4211 0.5728 0.1114 0.3769 0.5638 0.4816 hom 4927.99 147 3 132075707 . A G 4927.99 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=58.97;MQ0=0;QD=33.52;VQSLOD=9.8015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4928,382,0 3 132218621 132218621 G A exonic DNAJC13 nonsynonymous SNV DNAJC13:NM_015268:exon38:c.G4385A:p.R1462H,DNAJC13:NM_001329126:exon39:c.G4400A:p.R1467H 0.0056 0.0023 0.0029 . 0.011 0.012 0.0091 0.0014 0.0029 0 0.0071 0.0110 0.0132 0.0161 0.0068 0.0005 0.01 . . rs61748103 . . . . . . . . . . . . . 0.159 0.238 T 0.0 0.026 B 0.0 0.013 B 0.000 0.452 D 0.708 0.335 D 0.46 0.130 N 2.25 0.178 T -0.96 0.255 N 0.125 0.141 -1.035 0.188 T 0.010 0.037 T . . . 3.600 0.490 23.2 0.846 0.149 0.916 0.537 D c -0.386 -0.189 0.707 0.228 0.707 0.730 0 3.37 0.375 2.826 0.476 0.953 0.551 1.000 0.715 0.996 0.625 6.941 0.235 Armadillo-type fold . . 0.0091 0.0014 0.0034 0.0072 0 0.0065 0.0115 0.0082 0.0178 0.0081 0.0010 0.0048 0.0232 0 0.0069 0.0131 0.0122 het 2997.42 208 3 132218621 . G A 2997.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.714;DP=208;DS;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=8.1012;MQ=59.57;MQ0=0;MQRankSum=0.621;QD=14.41;ReadPosRankSum=-1.303;VQSLOD=3.5781;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:98,108:208:99:3027,0,2527 3 132218623 132218623 G T exonic DNAJC13 nonsynonymous SNV DNAJC13:NM_015268:exon38:c.G4387T:p.A1463S,DNAJC13:NM_001329126:exon39:c.G4402T:p.A1468S 0.74 0.98 0.51 0.88 0.49 0.68 0.5693 0.9041 0.5145 0.9074 0.4890 0.4771 0.5650 0.6249 0.62 0.89 0.48 0.83 0.48 rs3762672 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.212 P -1.615 0.004 N 0.91 0.449 T 2.38 0.003 N 0.106 0.112 -0.949 0.411 T 0.000 0.000 T . . . 1.693 0.265 14.37 0.929 0.219 0.057 0.115 N c -0.820 -0.479 1.000 0.423 0.707 0.730 0 5.17 0.707 5.814 0.687 0.088 0.194 1.000 0.715 0.995 0.604 12.582 0.556 Armadillo-type fold ENSG00000138246.11|ENSG00000138246.11|ENSG00000113971.14|ENSG00000138246.11|ENSG00000138246.11 Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Testis|Whole_Blood 0.5574 0.9120 0.5200 0.4972 0.9056 0.4847 0.4701 0.5245 0.6215 0.6152 0.8950 0.5443 0.5066 0.9109 0.4702 0.4657 0.5327 het 2550.32 206 3 132218623 . G T 2550.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.202;DP=206;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1012;MQ=59.56;MQ0=0;MQRankSum=-0.972;QD=12.38;ReadPosRankSum=0.687;VQSLOD=4.2357;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,99:206:99:2580,0,3079 3 132360883 132360883 C T exonic ACAD11 nonsynonymous SNV ACAD11:NM_032169:exon4:c.G470A:p.R157H 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs821572 COSM4591401 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 5081.96 163 3 132360883 . C T 5081.96 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;QD=31.18;VQSLOD=9.7703;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:5081,403,0 3 133099245 133099245 G A exonic TMEM108 synonymous SNV TMEM108:NM_001136469:exon4:c.G690A:p.P230P,TMEM108:NM_023943:exon4:c.G690A:p.P230P 0.38 0.26 0.49 0.39 0.45 0.39 0.4253 0.2905 0.5070 0.4249 0.4491 0.4339 0.4 0.4101 0.39 0.3 0.43 0.4 0.37 rs1197314 COSM4157279 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4306 0.2856 0.4911 0.4542 0.4257 0.4525 0.4326 0.4368 0.4073 0.3973 0.2905 0.4749 0.4567 0.4326 0.4300 0.4407 0.4252 hom 1899.99 59 3 133099245 . G A 1899.99 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.27;MQ0=0;QD=32.20;VQSLOD=8.9342;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1933,150,0 3 133167363 133167363 G A exonic BFSP2 synonymous SNV BFSP2:NM_003571:exon3:c.G603A:p.A201A 0.44 0.097 0.38 0.59 0.57 0.64 0.5441 0.1654 0.3347 0.5909 0.5459 0.6138 0.5542 0.6194 0.46 0.17 0.61 0.3 0.67 rs2276737 COSM4416821 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5399 0.1548 0.3484 0.5571 0.5955 0.5404 0.6178 0.5550 0.6185 0.4720 0.1718 0.3986 0.5563 0.6057 0.5329 0.6143 0.5644 hom 1821.41 59 3 133167363 . G A 1821.41 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.45;MQ0=0;QD=30.87;VQSLOD=8.4441;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1854,141,0 3 133329943 133329943 G A exonic TOPBP1 synonymous SNV TOPBP1:NM_007027:exon25:c.C4078T:p.L1360L 0.68 0.78 0.63 0.63 0.75 0.57 0.6905 0.7747 0.6423 0.5792 0.6451 0.7254 0.6682 0.6109 0.75 0.78 0.73 0.65 . rs1444601 COSM4002470 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6851 0.7817 0.6483 0.7096 0.5809 0.6339 0.7275 0.6881 0.6106 0.7131 0.7736 0.6842 0.6788 0.5854 0.6523 0.7102 0.6811 het 1160.18 110 3 133329943 . G A 1160.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.303;DP=110;Dels=0.00;FS=6.412;HRun=2;HaplotypeScore=1.6647;MQ=58.95;MQ0=0;MQRankSum=-0.210;QD=10.55;ReadPosRankSum=-0.333;VQSLOD=5.2370;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,44:110:99:1190,0,1967 3 133356790 133356790 G A exonic TOPBP1 nonsynonymous SNV TOPBP1:NM_007027:exon14:c.C2450T:p.S817L 0.081 0.068 0.12 0.001 0.18 0.048 0.1411 0.0738 0.0864 0.0002 0.1686 0.1948 0.1433 0.0646 0.16 0.073 0.19 0.12 . rs17301766 COSM3759766;COSM3759765 1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.372 0.323 B 0.044 0.230 B 0.003 0.350 N 0.001 0.456 P 2.745 0.805 M 2.02 0.211 T -2.5 0.543 D 0.058 0.041 -1.047 0.151 T 0.000 0.000 T . . . 3.906 0.526 23.5 0.997 0.827 0.989 0.882 D c 0.086 0.205 1.000 0.437 0.707 0.730 0 5.16 0.704 5.485 0.664 1.048 0.713 1.000 0.715 0.977 0.480 15.257 0.732 . ENSG00000242337.1 Esophagus_Mucosa 0.1408 0.0730 0.0938 0.1592 0.0005 0.1573 0.2004 0.1670 0.0656 0.1396 0.0739 0.1077 0.1490 0 0.1622 0.1883 0.1548 het 4102.65 242 3 133356790 . G A 4102.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.637;DP=242;Dels=0.00;FS=9.177;HRun=1;HaplotypeScore=8.5190;MQ=59.12;MQ0=0;MQRankSum=1.758;QD=16.95;ReadPosRankSum=-0.461;VQSLOD=3.3629;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,122:242:99:3439,0,3046 3 133362154 133362154 A G exonic TOPBP1 synonymous SNV TOPBP1:NM_007027:exon12:c.T1911C:p.V637V 0.081 0.068 0.12 0.001 0.18 0.048 0.1418 0.0753 0.0872 0.0002 0.1688 0.1955 0.1465 0.0650 0.16 0.077 0.2 0.12 . rs17301889 COSM3759767;COSM3759768 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1397 0.0728 0.0919 0.1602 0.0003 0.1568 0.1992 0.1653 0.0642 0.1401 0.0747 0.1074 0.1490 0 0.1616 0.1892 0.1534 het 953.72 74 3 133362154 . A G 953.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.706;DP=74;Dels=0.00;FS=11.275;HRun=2;HaplotypeScore=0.6651;MQ=59.69;MQ0=0;MQRankSum=1.556;QD=12.89;ReadPosRankSum=0.374;VQSLOD=4.0689;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,34:74:99:984,0,1109 3 133368362 133368362 T G exonic TOPBP1 nonsynonymous SNV TOPBP1:NM_007027:exon10:c.A1369C:p.K457Q 0.7 0.79 0.64 0.62 0.77 0.6 0.7159 0.7858 0.6512 0.5800 0.6662 0.7550 0.6989 0.6531 0.77 0.79 0.77 0.66 . rs3192149 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.045 0.236 N 1.000 0.090 P -1.265 0.007 N 2.75 0.116 T 0.89 0.016 N 0.023 0.006 -1.029 0.208 T 0.000 0.000 T . . . 1.150 0.205 11.48 0.153 0.004 0.041 0.095 N c -0.767 -0.472 0.141 0.173 0.719 0.830 0 4.84 0.620 2.532 0.451 0.133 0.217 0.994 0.380 0.873 0.365 15.345 0.739 . ENSG00000091513.10|ENSG00000091527.11 Nerve_Tibial|Whole_Blood 0.7104 0.7930 0.6564 0.7380 0.5809 0.6553 0.7596 0.7133 0.6536 0.7347 0.7850 0.6957 0.7119 0.5878 0.6737 0.7405 0.6976 het 2732.11 249 3 133368362 . T G 2732.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.728;DP=249;DS;Dels=0.00;FS=2.834;HRun=0;HaplotypeScore=4.6706;MQ=58.84;MQ0=1;MQRankSum=1.223;QD=10.97;ReadPosRankSum=-1.866;VQSLOD=4.9043;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:142,107:249:99:2762,0,3593 3 133475722 133475722 C T exonic TF synonymous SNV TF:NM_001063:exon7:c.C739T:p.L247L 0.14 0.05 0.14 0.22 0.14 0.19 0.1289 0.0628 0.1345 0.2651 0.1644 0.1127 0.1410 0.1462 0.085 0.064 0.096 0.076 0.074 rs1799852 COSM4002475 1(haematopoietic_and_lymphoid_tissue) Benign Atransferrinemia RCV000343557.1 MedGen:OMIM C1859593:209300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1308 0.0623 0.1316 0.1235 0.2687 0.1671 0.1069 0.1380 0.1482 0.1199 0.0604 0.1265 0.1391 0.2818 0.1641 0.1229 0.1670 het 2698.57 214 3 133475722 . C T 2698.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.626;DP=214;DS;Dels=0.00;FS=5.718;HRun=1;HaplotypeScore=8.1645;MQ=59.35;MQ0=0;MQRankSum=-0.147;QD=12.61;ReadPosRankSum=-1.659;VQSLOD=4.1336;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,103:214:99:2729,0,2997 3 133475812 133475812 G A exonic TF nonsynonymous SNV TF:NM_001063:exon7:c.G829A:p.G277S 0.031 0.0015 0.039 . 0.071 0.054 0.0532 0.0106 0.0250 0.0001 0.1429 0.0641 0.0782 0.0461 0.035 0.01 0.048 0.011 0.016 rs1799899 COSM3736306 1(breast);2(soft_tissue);1(skin) Uncertain significance|Likely benign Iron_deficiency_anemia|Atransferrinemia RCV000013457.4|RCV000308514.1 MedGen:SNOMED_CT|MedGen:OMIM C0162316:87522002|C1859593:209300 Alcohol consumption (transferrin glycosylation) . .40 21665994 rs1799899 1E-9 0.04 0.421 D 0.999 0.764 D 0.974 0.715 D 0.001 0.394 N 0.570 0.359 D 1.73 0.448 L 1.37 0.342 T -4.15 0.753 D 0.542 0.580 -0.994 0.316 T 0.014 0.056 T . . . 4.612 0.618 24.4 0.969 0.308 0.800 0.394 D c 0.423 0.358 1.000 0.747 0.549 0.223 0 4.58 0.559 3.278 0.511 0.998 0.613 1.000 0.715 0.613 0.291 13.114 0.585 Transferrin-like domain . . 0.0532 0.0094 0.0240 0.0599 5.798e-05 0.1459 0.0585 0.0596 0.0469 0.0580 0.0087 0.0239 0.0464 0 0.1354 0.0744 0.0982 het 2272.11 180 3 133475812 . G A 2272.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.017;DP=180;Dels=0.00;FS=4.443;HRun=0;HaplotypeScore=3.4485;MQ=59.45;MQ0=0;MQRankSum=0.855;QD=12.62;ReadPosRankSum=0.185;VQSLOD=5.8102;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:96,84:180:99:2302,0,2520 3 133485133 133485133 A G exonic TF nonsynonymous SNV TF:NM_001063:exon12:c.A1342G:p.I448V 0.99 1. 0.95 1. 1. 1. 0.9932 0.9988 0.9306 1 1 0.9999 0.9945 1 1. 1. 1. 0.99 0.95 rs2692696 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.203 P -3.045 0.000 N 2.05 0.207 T 0.9 0.016 N 0.236 0.290 -0.959 0.393 T 0.000 0.000 T . . . 0.035 0.097 2.925 0.766 0.111 0.186 0.201 N c -0.974 -0.657 1.000 0.747 0.516 0.203 0 4.87 0.627 7.480 0.800 0.138 0.222 1.000 0.715 0.864 0.361 12.755 0.565 Transferrin-like domain . . 0.9913 0.9988 0.9383 1 0.9999 1 1.0000 0.9925 1 0.9982 0.9986 0.9511 1 1 1 0.9999 0.9990 hom 8136.85 246 3 133485133 . A G 8136.85 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0477;MQ=59.81;MQ0=0;QD=33.08;VQSLOD=9.2053;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,245:246:99:8136,626,0 3 133524717 133524717 G C exonic SRPRB nonsynonymous SNV SRPRB:NM_021203:exon2:c.G25C:p.V9L 0.17 0.083 0.24 0.23 0.2 0.16 0.2186 0.1073 0.2004 0.2194 0.1834 0.2527 0.2331 0.1727 0.2 0.11 0.25 0.22 0.27 rs1107413 COSM3759772 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.204 0.200 T 0.0 0.026 B 0.0 0.013 B 0.060 0.021 U 1 0.090 P 0.35 0.120 N 2.54 0.475 T -0.63 0.185 N 0.047 0.275 -1.061 0.115 T 0.000 0.000 T . . . 0.657 0.157 8.545 0.711 0.092 0.068 0.127 N c -0.937 -0.969 1.000 0.747 0.442 0.072 0 0.767 0.176 -0.145 0.102 0.135 0.219 0.000 0.063 0.006 0.095 6.681 0.222 . . . 0.2182 0.1042 0.2091 0.3010 0.2146 0.1857 0.2515 0.2384 0.1617 0.1973 0.1151 0.1981 0.3311 0.2238 0.1832 0.2414 0.2189 het 1241.22 102 3 133524717 . G C 1241.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.202;DP=102;Dels=0.00;FS=2.742;HRun=0;HaplotypeScore=3.4624;MQ=58.37;MQ0=0;MQRankSum=2.001;QD=12.17;ReadPosRankSum=1.329;VQSLOD=4.3356;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,47:102:99:1271,0,1454 3 134077470 134077470 C G exonic AMOTL2 nonsynonymous SNV AMOTL2:NM_001278683:exon9:c.G2367C:p.E789D,AMOTL2:NM_001278685:exon9:c.G2187C:p.E729D,AMOTL2:NM_016201:exon9:c.G2196C:p.E732D 0.81 0.94 0.72 0.92 0.61 0.79 0.7111 0.8914 0.7309 0.9218 0.6071 0.6523 0.6589 0.7547 0.73 0.87 0.66 0.77 0.53 rs1353776 COSM4407384 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1 0.090 P -1.1 0.010 N 2.6 0.142 T 1.47 0.008 N 0.012 0.002 -0.860 0.513 T 0.000 0.000 T . . . -2.157 0.006 0.001 0.590 0.060 0.019 0.058 N c -2.458 -2.459 1.0 0.983 0.722 0.854 0 -11.0 0.001 -2.777 0.008 -1.407 0.012 0.000 0.063 0.007 0.100 9.742 0.394 . ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000214289.2|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid|Uterus 0.7058 0.8938 0.7266 0.6498 0.9223 0.6156 0.6529 0.6801 0.7471 0.7388 0.8820 0.7100 0.7351 0.9183 0.6140 0.6680 0.7193 hom 1748.62 64 3 134077470 . C G 1748.62 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.71;MQ0=0;QD=27.32;VQSLOD=6.5558;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:64:99:1782,153,0 3 134278270 134278270 C T exonic CEP63 nonsynonymous SNV CEP63:NM_025180:exon15:c.C1952T:p.S651L 0.33 0.022 0.53 0.6 0.37 0.27 0.3590 0.0781 0.5788 0.6171 0.3693 0.3512 0.3744 0.2690 0.27 0.091 0.36 0.21 0.39 rs1127826 . . Benign not_specified RCV000116680.1 MedGen CN169374 . . . . . . 0.328 0.132 T 0.001 0.067 B 0.002 0.063 B 0.894 0.087 N 0.000 0.588 P 0.675 0.164 N 2.24 0.179 T 0.5 0.030 N 0.029 0.010 -0.944 0.420 T 0.000 0.000 T . . . 2.644 0.379 20.5 0.894 0.182 0.170 0.194 N c -0.768 -0.685 0.008 0.115 0.651 0.465 0 -2.93 0.052 0.279 0.184 0.070 0.177 0.995 0.385 0.999 0.750 6.749 0.225 . ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000129055.8|ENSG00000129055.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.3725 0.0726 0.5581 0.3204 0.6192 0.3764 0.3519 0.3822 0.2685 0.3029 0.0828 0.5060 0.2980 0.6132 0.3834 0.3642 0.3554 het 831.29 75 3 134278270 . C T 831.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.911;DP=75;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.35;MQ0=0;MQRankSum=-0.367;QD=11.08;ReadPosRankSum=-0.059;VQSLOD=6.1145;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,34:75:99:861,0,1040 3 134322742 134322742 A G exonic KY synonymous SNV KY:NM_001350859:exon10:c.T1617C:p.L539L,KY:NM_178554:exon11:c.T1665C:p.L555L 0.68 0.53 0.75 0.88 0.67 0.65 0.6720 0.5483 0.8343 0.8859 0.7201 0.6465 0.6562 0.6044 0.61 0.56 0.64 0.51 . rs2293293 COSM4157289;COSM4157290 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6802 0.5385 0.8200 0.6049 0.8837 0.7309 0.6434 0.6800 0.6052 0.6454 0.5414 0.7931 0.6033 0.9063 0.7218 0.6504 0.6745 het 1401.42 120 3 134322742 . A G 1401.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.893;DP=120;Dels=0.00;FS=4.587;HRun=0;HaplotypeScore=7.1709;MQ=59.32;MQ0=0;MQRankSum=1.405;QD=11.68;ReadPosRankSum=-0.969;VQSLOD=4.5153;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,58:120:99:1431,0,1744 3 134322814 134322814 G C exonic KY synonymous SNV KY:NM_001350859:exon10:c.C1545G:p.G515G,KY:NM_178554:exon11:c.C1593G:p.G531G 0.3 0.41 0.23 0.11 0.33 0.34 0.3221 0.4029 0.1612 0.1126 0.2804 0.3527 0.3426 0.3886 0.37 0.38 0.36 0.41 . rs2293294 COSM4157291;COSM149478 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3142 0.4120 0.1759 0.3923 0.1148 0.2694 0.3552 0.3143 0.3872 0.3406 0.4117 0.2010 0.3940 0.0927 0.2776 0.3488 0.3198 het 1776.28 159 3 134322814 . G C 1776.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.330;DP=159;Dels=0.00;FS=4.753;HRun=2;HaplotypeScore=5.5880;MQ=58.23;MQ0=0;MQRankSum=1.479;QD=11.17;ReadPosRankSum=0.798;VQSLOD=3.9481;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,73:159:99:1806,0,2325 3 134323156 134323156 A G exonic KY synonymous SNV KY:NM_001350859:exon10:c.T1203C:p.F401F,KY:NM_178554:exon11:c.T1251C:p.F417F 1. 0.99 1. 1. 1. 1. 0.9989 0.9885 0.9990 1 1 1.0000 1 1 1. 0.99 1. 1. . rs4955535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9992 0.9890 0.9994 1 1 1 1.0000 0.9995 0.9999 0.9971 0.9898 1 1 1 1 1 0.9990 hom 4188.95 138 3 134323156 . A G 4188.95 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5107;MQ=59.67;MQ0=0;QD=30.35;VQSLOD=8.1419;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4188,355,0 3 135720851 135720851 G T exonic PPP2R3A nonsynonymous SNV PPP2R3A:NM_002718:exon2:c.G511T:p.A171S 0.35 0.55 0.28 0.2 0.28 0.33 0.2979 0.5219 0.3081 0.2045 0.3194 0.2686 0.2797 0.3098 0.35 0.51 0.27 0.38 0.17 rs6779903 COSM3759782 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.799 0.031 T 0.0 0.026 B 0.0 0.013 B 0.027 0.258 N 1 0.090 P -1.355 0.007 N 3.47 0.052 T 0.31 0.040 N 0.033 0.013 -1.021 0.233 T 0.000 0.000 T . . . -2.679 0.002 0.001 0.280 0.014 0.039 0.092 N c -1.400 -1.245 0.063 0.153 0.615 0.372 0 0.066 0.136 1.055 0.299 -0.221 0.097 0.626 0.277 0.624 0.293 8.527 0.323 . . . 0.2934 0.5243 0.3028 0.2698 0.2044 0.3159 0.2671 0.2840 0.3068 0.3469 0.5168 0.2745 0.2748 0.2011 0.3049 0.2797 0.3381 het 322.55 59 3 135720851 . G T 322.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.021;DP=59;Dels=0.00;FS=4.534;HRun=0;HaplotypeScore=0.9665;MQ=59.61;MQ0=0;MQRankSum=-0.151;QD=5.47;ReadPosRankSum=0.169;VQSLOD=4.1898;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,16:59:99:353,0,1042 3 136573440 136573440 A G exonic SLC35G2 synonymous SNV SLC35G2:NM_001097599:exon2:c.A138G:p.G46G,SLC35G2:NM_001097600:exon2:c.A138G:p.G46G,SLC35G2:NM_025246:exon2:c.A138G:p.G46G 0.7 0.57 0.77 0.85 0.66 0.74 0.7135 0.6157 0.7749 0.8645 0.6810 0.6943 0.6949 0.7437 0.67 0.61 0.7 0.61 0.62 rs9827648 COSM4157300 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7170 0.6144 0.7798 0.6921 0.8644 0.6767 0.6933 0.7142 0.7412 0.6810 0.6137 0.7673 0.6623 0.8773 0.6901 0.6914 0.6963 het 2255.64 162 3 136573440 . A G 2255.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.451;DP=162;DS;Dels=0.00;FS=4.831;HRun=2;HaplotypeScore=0.9979;MQ=59.59;MQ0=0;MQRankSum=-0.073;QD=13.92;ReadPosRankSum=-0.592;VQSLOD=5.9266;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,87:162:99:2286,0,1925 3 136574501 136574501 A G exonic SLC35G2 nonsynonymous SNV SLC35G2:NM_001097599:exon2:c.A1199G:p.K400R,SLC35G2:NM_001097600:exon2:c.A1199G:p.K400R,SLC35G2:NM_025246:exon2:c.A1199G:p.K400R 0.71 0.6 0.77 0.85 0.66 0.74 0.7150 0.6290 0.7759 0.8643 0.6860 0.6944 0.6991 0.7439 0.67 0.63 0.7 0.64 0.69 rs1052618 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.090 P -0.695 0.019 N 2.15 0.193 T -0.02 0.073 N 0.033 0.013 -0.980 0.350 T 0.000 0.000 T . . . 0.520 0.144 7.586 0.889 0.178 0.128 0.173 N c -0.612 -0.301 1.000 0.747 0.732 0.924 0 5.79 0.917 5.503 0.665 0.104 0.200 1.000 0.715 0.966 0.452 13.854 0.629 . ENSG00000239213.1|ENSG00000273486.1|ENSG00000239213.1|ENSG00000273486.1|ENSG00000273486.1|ENSG00000273486.1|ENSG00000239213.1|ENSG00000239213.1|ENSG00000168917.8|ENSG00000239213.1|ENSG00000239213.1|ENSG00000239213.1|ENSG00000273486.1|ENSG00000239213.1|ENSG00000174564.8|ENSG00000239213.1|ENSG00000168917.8|ENSG00000239213.1|ENSG00000273486.1 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Stomach|Testis|Testis|Thyroid 0.7187 0.6289 0.7810 0.6919 0.8644 0.6806 0.6937 0.7148 0.7414 0.6856 0.6270 0.7685 0.6667 0.8766 0.6948 0.6918 0.6990 het 1658.23 131 3 136574501 . A G 1658.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.279;DP=131;Dels=0.00;FS=2.301;HRun=1;HaplotypeScore=2.6953;MQ=57.53;MQ0=0;MQRankSum=-0.805;QD=12.66;ReadPosRankSum=-0.565;VQSLOD=4.6082;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,61:131:99:1688,0,1908 3 137786442 137786442 T C exonic DZIP1L nonsynonymous SNV DZIP1L:NM_173543:exon14:c.A1933G:p.K645E 0.55 0.26 0.69 0.61 0.69 0.65 0.6457 0.3536 0.6147 0.6472 0.6197 0.6977 0.6463 0.6508 0.59 0.36 0.71 0.46 0.57 rs442800 COSM5886271 1(skin) . . . . . . . . . . . 0.773 0.033 T 0.0 0.026 B 0.0 0.013 B 0.922 0.075 N 1 0.090 P -1.5 0.005 N 0.97 0.425 T -0.81 0.223 N 0.013 0.245 -0.997 0.308 T 0.000 0.000 T . . . -1.360 0.020 0.004 0.151 0.004 0.001 0.005 N c -1.033 -1.073 0.999 0.373 0.615 0.372 0 1.64 0.228 -0.051 0.117 -2.088 0.004 0.000 0.063 0.000 0.016 5.710 0.171 . ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.6518 0.3480 0.6286 0.7375 0.6503 0.6118 0.7004 0.6693 0.6507 0.5844 0.3558 0.6566 0.7649 0.6522 0.6084 0.6924 0.6548 het 1059.01 109 3 137786442 . T C 1059.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.391;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5566;MQ=59.66;MQ0=0;MQRankSum=-1.260;QD=9.72;ReadPosRankSum=0.473;VQSLOD=4.3713;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,48:109:99:1089,0,1650 3 137787047 137787047 C T exonic DZIP1L nonsynonymous SNV DZIP1L:NM_173543:exon13:c.G1778A:p.R593H 0.63 0.31 0.78 0.63 0.86 0.72 0.7718 0.4295 0.6751 0.6583 0.7505 0.8649 0.8116 0.7424 0.72 0.44 0.87 0.56 0.7 rs374045 COSM1566241 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);2(thyroid) . . . . . . . . . . . 0.021 0.491 D 0.033 0.190 B 0.007 0.121 B 0.593 0.110 N 1 0.090 P 1.825 0.480 L 1.12 0.387 T -2.15 0.486 N 0.031 0.012 -1.022 0.229 T 0.000 0.000 T . . . 1.816 0.279 15.08 0.959 0.276 0.061 0.120 N c -0.851 -0.888 1.000 0.489 0.776 0.995 0 2.16 0.265 -0.005 0.127 -0.372 0.066 0.004 0.165 0.007 0.100 6.686 0.222 . ENSG00000158163.10|ENSG00000158163.10 Artery_Tibial|Colon_Transverse 0.7715 0.4199 0.6940 0.8809 0.6586 0.7421 0.8653 0.8048 0.7325 0.7077 0.4262 0.7303 0.8808 0.6613 0.7453 0.8560 0.8082 hom 1434.42 60 3 137787047 . C T 1434.42 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.670;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.06;MQ0=0;MQRankSum=-0.247;QD=23.91;ReadPosRankSum=0.804;VQSLOD=6.3891;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,56:60:99:1467,129,0 3 137787192 137787192 T C exonic DZIP1L nonsynonymous SNV DZIP1L:NM_173543:exon13:c.A1633G:p.T545A 0.63 0.31 0.78 0.63 0.86 0.72 0.7717 0.4279 0.6753 0.6580 0.7486 0.8649 0.8072 0.7416 0.72 0.44 0.87 0.58 0.7 rs446644 . . . . . . . . . . . . . 0.229 0.183 T 0.039 0.197 B 0.011 0.145 B 0.290 0.148 N 1 0.090 P 1.79 0.469 L 1.04 0.402 T -1.64 0.393 N 0.009 0.001 -0.995 0.314 T 0.000 0.000 T . . . -1.870 0.010 0.002 0.695 0.087 0.051 0.107 N c -1.199 -1.231 1.000 0.410 0.732 0.924 0 -0.849 0.101 -0.885 0.042 -0.259 0.088 0.000 0.063 0.001 0.043 3.469 0.071 . ENSG00000158163.10|ENSG00000158163.10 Artery_Tibial|Colon_Transverse 0.7734 0.4211 0.6940 0.8857 0.6551 0.7421 0.8649 0.8034 0.7345 0.7078 0.4265 0.7297 0.88 0.6607 0.7456 0.8557 0.8082 hom 2048.60 72 3 137787192 . T C 2048.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.444;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=57.89;MQ0=0;MQRankSum=1.540;QD=28.45;ReadPosRankSum=1.684;VQSLOD=6.4662;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,71:72:99:2082,151,0 3 137807259 137807259 G A exonic DZIP1L nonsynonymous SNV DZIP1L:NM_173543:exon6:c.C961T:p.R321W,DZIP1L:NM_001170538:exon7:c.C961T:p.R321W 0.54 0.19 0.69 0.61 0.69 0.67 0.6386 0.2865 0.6101 0.6465 0.6082 0.6950 0.6377 0.6598 0.57 0.29 0.71 0.42 0.66 rs2724693 COSM5002711;COSM5002710 1(pancreas) . . . . . . . . . . . 0.021 0.524 D 0.995 0.657 D 0.533 0.468 P 0.440 0.126 N 1 0.090 P 0.55 0.145 N 0.83 0.478 T -1.53 0.402 N 0.061 0.141 -1.036 0.184 T 0.000 0.000 T . . . 3.434 0.471 23.0 0.998 0.861 0.201 0.207 N c -0.265 -0.321 0.999 0.372 0.651 0.465 0 3.29 0.366 1.016 0.294 1.048 0.713 0.596 0.275 0.001 0.043 6.885 0.232 . ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.6460 0.2786 0.6236 0.7293 0.6494 0.6050 0.6988 0.6620 0.6604 0.5610 0.2843 0.6492 0.7517 0.6566 0.6008 0.6882 0.6446 het 674.96 60 3 137807259 . G A 674.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.519;DP=60;Dels=0.00;FS=2.652;HRun=0;HaplotypeScore=1.9150;MQ=59.38;MQ0=0;MQRankSum=0.230;QD=11.25;ReadPosRankSum=1.030;VQSLOD=6.6399;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,28:60:99:705,0,797 3 137843106 137843106 T C exonic A4GNT synonymous SNV A4GNT:NM_016161:exon3:c.A1023G:p.X341X 0.65 0.64 0.72 0.64 0.67 0.62 0.6549 0.6423 0.6189 0.6690 0.6418 0.6674 0.6540 0.6357 0.66 0.64 0.67 0.6 0.72 rs2170309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6547 0.6461 0.6319 0.6763 0.6710 0.6372 0.6681 0.6595 0.6314 0.6543 0.6529 0.6423 0.7185 0.6764 0.6261 0.6571 0.6800 het 2016.64 152 3 137843106 . T C 2016.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.790;DP=152;Dels=0.00;FS=1.314;HRun=0;HaplotypeScore=4.3396;MQ=58.38;MQ0=0;MQRankSum=-0.038;QD=13.27;ReadPosRankSum=-0.594;VQSLOD=5.5249;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,77:152:99:2047,0,1897 3 137843476 137843476 G T exonic A4GNT nonsynonymous SNV A4GNT:NM_016161:exon3:c.C653A:p.A218D 0.65 0.64 0.72 0.64 0.67 0.62 0.6523 0.6408 0.6185 0.6666 0.6413 0.6661 0.6509 0.6245 0.66 0.64 0.67 0.6 0.68 rs2246945 . . . . . . . . . . . . . 0.914 0.023 T 0.0 0.026 B 0.002 0.063 B 0.898 0.073 N 1 0.090 P -0.28 0.037 N -1.2 0.785 T 0.21 0.048 N 0.025 0.007 -0.956 0.399 T 0.000 0.000 T . . . 0.025 0.096 2.825 0.260 0.012 0.004 0.021 N c -1.351 -1.330 1.000 0.423 0.516 0.203 0 -1.83 0.074 -0.352 0.077 -0.984 0.023 0.001 0.137 0.665 0.302 10.381 0.431 Alpha 1\x2c4-glycosyltransferase domain|Nucleotide-diphospho-sugar transferases ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.6539 0.6457 0.6310 0.6756 0.6702 0.6368 0.6678 0.6580 0.6284 0.6545 0.6535 0.6423 0.7185 0.6786 0.6264 0.6569 0.6782 het 1165.51 117 3 137843476 . G T 1165.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.759;DP=117;Dels=0.00;FS=3.421;HRun=0;HaplotypeScore=4.0749;MQ=59.09;MQ0=0;MQRankSum=-1.014;QD=9.96;ReadPosRankSum=1.970;VQSLOD=4.5968;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,49:117:99:1196,0,1923 3 137850003 137850003 A G exonic A4GNT synonymous SNV A4GNT:NM_016161:exon2:c.T96C:p.C32C 0.61 0.59 0.72 0.55 0.66 0.58 0.6387 0.6022 0.6155 0.5902 0.6469 0.6659 0.6527 0.5892 0.65 0.6 0.67 0.58 0.63 rs2724691 COSM5482393 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6418 0.6029 0.6286 0.6800 0.5938 0.6452 0.6675 0.6477 0.5938 0.6353 0.6005 0.6367 0.7282 0.6103 0.6350 0.6545 0.6636 het 1914.51 175 3 137850003 . A G 1914.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.051;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1689;MQ=59.31;MQ0=0;MQRankSum=0.462;QD=10.94;ReadPosRankSum=0.547;VQSLOD=5.6216;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:103,72:175:99:1945,0,2646 3 137880743 137880743 G A exonic DBR1 synonymous SNV DBR1:NM_016216:exon8:c.C1623T:p.D541D 0.58 0.46 0.7 0.55 0.68 0.6 0.6300 0.4781 0.6002 0.5740 0.6590 0.6743 0.6489 0.5856 0.62 0.49 0.69 0.51 0.73 rs2622736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6285 0.4754 0.6069 0.6718 0.5731 0.6520 0.6688 0.6349 0.5826 0.6163 0.4895 0.6316 0.7467 0.6121 0.6494 0.6753 0.6790 het 2639.09 195 3 137880743 . G A 2639.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.105;DP=195;Dels=0.01;FS=0.600;HRun=0;HaplotypeScore=3.8974;MQ=59.29;MQ0=0;MQRankSum=1.872;QD=13.46;ReadPosRankSum=0.920;VQSLOD=5.7760;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,99:195:99:2669,0,2356 3 137881265 137881265 T A exonic DBR1 synonymous SNV DBR1:NM_016216:exon8:c.A1101T:p.T367T 0.69 0.81 0.74 0.55 0.68 0.65 0.6801 0.8019 0.6288 0.5929 0.6684 0.6904 0.6762 0.6481 0.73 0.8 0.69 0.64 0.75 rs3732839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6768 0.8084 0.6422 0.7013 0.5935 0.6659 0.6894 0.6742 0.6510 0.7087 0.8057 0.6619 0.7517 0.6152 0.6576 0.6763 0.7041 het 1147.88 109 3 137881265 . T A 1147.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.053;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.83;MQ0=0;MQRankSum=-0.046;QD=10.53;ReadPosRankSum=0.034;VQSLOD=6.6603;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,43:109:99:1178,0,1925 3 138023785 138023785 C T exonic NME9 nonsynonymous SNV NME9:NM_001349020:exon7:c.G532A:p.V178M,NME9:NM_001349021:exon7:c.G532A:p.V178M,NME9:NM_001349023:exon7:c.G451A:p.V151M,NME9:NM_001349025:exon8:c.G604A:p.V202M,NME9:NM_001349018:exon9:c.G721A:p.V241M,NME9:NM_001349022:exon9:c.G538A:p.V180M,NME9:NM_001349024:exon9:c.G604A:p.V202M,NME9:NM_178130:exon10:c.G538A:p.V180M . . . . . . 2.472e-05 0 0 0 0 0 0 0.0002 . . . . . rs779777202 . . . . . . . . . . . . . 0.003 0.682 D 1.0 0.899 D 0.997 0.850 D 0.000 0.629 D 1.000 0.588 D 4.19 0.978 H 0.33 0.583 T -2.66 0.569 D 0.675 0.703 -0.173 0.784 T 0.407 0.757 T 0.240 0.887 D 5.828 0.798 27.2 0.998 0.878 0.956 0.652 D c 0.446 0.356 1.000 0.747 0.487 0.133 0 5.44 0.793 5.228 0.649 0.892 0.403 0.997 0.399 0.712 0.312 16.744 0.853 . . . 3.252e-05 0 0 0 0 0 0 0 0.0003 3.23e-05 0 0 0 0 0 6.668e-05 0 het 3017.61 250 3 138023785 . C T 3017.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.763;DP=250;DS;Dels=0.00;FS=4.472;HRun=0;HaplotypeScore=9.4978;MQ=59.21;MQ0=0;MQRankSum=1.068;QD=12.07;ReadPosRankSum=-1.694;VQSLOD=2.2166;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:140,110:250:99:3048,0,3668 3 138033181 138033181 C T exonic NME9 synonymous SNV NME9:NM_001349020:exon4:c.G264A:p.E88E,NME9:NM_001349021:exon4:c.G264A:p.E88E,NME9:NM_001349023:exon4:c.G183A:p.E61E,NME9:NM_001349025:exon5:c.G336A:p.E112E,NME9:NM_001349018:exon6:c.G453A:p.E151E,NME9:NM_001349022:exon6:c.G270A:p.E90E,NME9:NM_001349024:exon6:c.G336A:p.E112E,NME9:NM_178130:exon7:c.G270A:p.E90E 0.7 0.55 0.8 0.8 0.7 0.72 0.7142 0.5767 0.8604 0.8179 0.7176 0.7075 0.7015 0.6701 0.67 0.59 0.71 0.63 0.72 rs9289556 . . Benign not_specified RCV000454729.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7221 0.5822 0.8564 0.6527 0.8188 0.7125 0.7081 0.7160 0.6731 0.6843 0.6045 0.8329 0.6656 0.8110 0.7109 0.7014 0.7080 hom 7267.15 249 3 138033181 . C T 7267.15 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8230;MQ=58.78;MQ0=0;QD=29.19;VQSLOD=8.5184;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7267,542,0 3 138191232 138191232 G A exonic ESYT3 nonsynonymous SNV ESYT3:NM_001322831:exon18:c.G1768A:p.G590R,ESYT3:NM_001322834:exon18:c.G1768A:p.G590R,ESYT3:NM_031913:exon18:c.G1768A:p.G590R 0.38 0.051 0.54 0.53 0.44 0.48 0.4437 0.1054 0.6070 0.5800 0.4716 0.4453 0.4189 0.4424 0.34 0.11 0.45 0.27 0.41 rs10935282 COSM5960164 1(thyroid) . . . . . . . . . . . 0.593 0.057 T 0.218 0.285 B 0.035 0.214 B 0.068 0.217 N 0.595 0.310 P 1.265 0.321 L -0.51 0.706 T 0.08 0.060 N 0.268 0.326 -0.947 0.415 T 0.000 0.000 T . . . 3.961 0.533 23.6 0.707 0.091 0.610 0.311 D c -0.117 0.017 1.000 0.747 0.615 0.372 0 4.45 0.532 2.624 0.459 1.048 0.713 1.000 0.715 1.000 0.888 14.617 0.680 C2 domain ENSG00000158234.8|ENSG00000158234.8|ENSG00000158234.8|ENSG00000114107.4 Brain_Frontal_Cortex_BA9|Esophagus_Mucosa|Muscle_Skeletal|Thyroid 0.4533 0.0980 0.5945 0.4014 0.5810 0.4696 0.4440 0.4474 0.4442 0.3604 0.1069 0.5644 0.3667 0.5781 0.4631 0.4438 0.4398 het 1763.54 188 3 138191232 . G A 1763.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.483;DP=188;Dels=0.00;FS=7.566;HRun=0;HaplotypeScore=5.8094;MQ=59.03;MQ0=0;MQRankSum=0.277;QD=9.38;ReadPosRankSum=0.608;VQSLOD=4.4671;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,75:188:99:1794,0,3159 3 138289163 138289163 T C exonic CEP70 synonymous SNV CEP70:NM_001288965:exon5:c.A402G:p.L134L,CEP70:NM_001320600:exon5:c.A462G:p.L154L,CEP70:NM_001288964:exon6:c.A408G:p.L136L,CEP70:NM_001288966:exon6:c.A462G:p.L154L,CEP70:NM_001320598:exon6:c.A462G:p.L154L,CEP70:NM_001320599:exon6:c.A462G:p.L154L,CEP70:NM_024491:exon6:c.A462G:p.L154L 0.48 0.24 0.64 0.55 0.51 0.61 0.5376 0.2638 0.7703 0.5879 0.5715 0.5186 0.5278 0.5853 0.44 0.27 0.53 0.37 0.47 rs1673608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5341 0.2534 0.7303 0.4295 0.5862 0.5648 0.5144 0.5345 0.5653 0.4651 0.2645 0.7041 0.3907 0.5854 0.5655 0.5296 0.5236 hom 2021.86 65 3 138289163 . T C 2021.86 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;QD=31.11;VQSLOD=9.6200;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2055,153,0 3 138289221 138289221 C T exonic CEP70 nonsynonymous SNV CEP70:NM_001288965:exon5:c.G344A:p.S115N,CEP70:NM_001320600:exon5:c.G404A:p.S135N,CEP70:NM_001288964:exon6:c.G350A:p.S117N,CEP70:NM_001288966:exon6:c.G404A:p.S135N,CEP70:NM_001320598:exon6:c.G404A:p.S135N,CEP70:NM_001320599:exon6:c.G404A:p.S135N,CEP70:NM_024491:exon6:c.G404A:p.S135N 0.69 0.59 0.71 0.94 0.53 0.71 0.6241 0.5945 0.8047 0.9511 0.6314 0.5434 0.6101 0.6691 0.57 0.6 0.55 0.65 0.54 rs1673607 . . . . . . . . . . . . . 0.65 0.099 T 0.0 0.026 B 0.0 0.013 B 0.158 0.177 N 1 0.374 P -0.78 0.016 N 1.44 0.464 T -0.35 0.129 N 0.006 0.008 -1.016 0.249 T 0.000 0.000 T . . . -0.150 0.080 1.390 0.275 0.014 0.075 0.133 N c -1.272 -1.089 0.002 0.090 0.706 0.609 0 -0.474 0.115 0.194 0.168 -0.673 0.039 0.998 0.411 0.785 0.331 4.235 0.100 . ENSG00000158234.8|ENSG00000158234.8|ENSG00000114107.4|ENSG00000158220.9|ENSG00000158234.8|ENSG00000114107.4|ENSG00000158234.8|ENSG00000158234.8|ENSG00000114107.4 Brain_Frontal_Cortex_BA9|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis 0.6271 0.5932 0.7739 0.4958 0.9539 0.6252 0.5423 0.6097 0.6671 0.5974 0.5843 0.7422 0.4433 0.9462 0.6304 0.5544 0.6010 hom 2814.82 89 3 138289221 . C T 2814.82 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9332;MQ=58.75;MQ0=0;QD=31.63;VQSLOD=8.8042;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2848,229,0 3 138329862 138329862 G A exonic FAIM synonymous SNV FAIM:NM_001033030:exon2:c.G63A:p.P21P 0.71 0.55 0.73 0.98 0.56 0.78 0.6504 0.5631 0.8091 0.9895 0.6941 0.5685 0.6355 0.7303 0.57 0.57 0.57 0.63 0.59 rs811322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6566 0.5653 0.7812 0.5027 0.9902 0.6935 0.5671 0.6308 0.7310 0.6147 0.5550 0.7524 0.4669 0.9901 0.6986 0.5833 0.6365 hom 6706.44 212 3 138329862 . G A 6706.44 Mask AC=2;AF=1.00;AN=2;DP=212;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9106;MQ=59.36;MQ0=0;QD=31.63;VQSLOD=8.7186;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6706,521,0 3 138668458 138668467 GGCATTCGAA - exonic FOXL2NB frameshift deletion FOXL2NB:NM_001040061:exon2:c.197_206del:p.H67Lfs*25 0.009 0.0015 0.013 . 0.028 0.0061 0.0170 0.0044 0.0072 0.0001 0.0608 0.0204 0.0224 0.0084 0.013 0.004 0.018 . . rs141282655 COSM5713098 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0175 0.0041 0.0054 0.0040 0.0001 0.0605 0.0203 0.0183 0.0097 0.0242 0.0039 0.0036 0.0033 0 0.0753 0.0279 0.0295 het 1793.71 106 3 138668457 . CGGCATTCGAA C 1793.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.383;DP=106;FS=0.000;HRun=0;HaplotypeScore=867.4403;MQ=52.99;MQ0=0;MQRankSum=-6.445;QD=16.76;ReadPosRankSum=1.204;set=variant2 GT:AD:DP:GQ:PL 0/1:84,23:106:99:1833,0,10900 3 140167536 140167536 A G exonic CLSTN2 synonymous SNV CLSTN2:NM_022131:exon6:c.A963G:p.Q321Q 0.85 0.99 0.86 0.65 0.86 0.83 0.8504 0.9745 0.8194 0.6685 0.8368 0.8635 0.8359 0.8422 0.9 0.97 0.86 0.86 0.87 rs2081803 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8469 0.9769 0.8331 0.8208 0.6681 0.8365 0.8657 0.8545 0.8441 0.8789 0.9724 0.8532 0.8444 0.6768 0.8437 0.8586 0.8473 hom 4657.33 137 3 140167536 . A G 4657.33 Mask AC=2;AF=1.00;AN=2;DP=137;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.83;MQ0=0;QD=34.00;VQSLOD=9.5964;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4657,364,0 3 140178485 140178485 G A exonic CLSTN2 nonsynonymous SNV CLSTN2:NM_022131:exon7:c.G1096A:p.V366I 0.53 0.61 0.43 0.5 0.59 0.47 0.5648 0.6046 0.3775 0.5071 0.6010 0.6088 0.5837 0.5078 0.6 0.59 0.61 0.49 0.67 rs7632885 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.477 N 1.000 0.209 P -0.31 0.036 N -0.82 0.741 T 0.12 0.056 N 0.048 0.029 -0.915 0.463 T 0.000 0.000 T . . . 0.485 0.141 7.315 0.742 0.103 0.487 0.280 N c -0.723 -0.490 0.978 0.298 0.638 0.428 0 4.25 0.495 1.836 0.386 0.244 0.267 1.000 0.715 0.873 0.365 8.393 0.315 Concanavalin A-like lectin/glucanase domain . . 0.5548 0.6002 0.3885 0.5745 0.5070 0.5974 0.6080 0.5620 0.5093 0.5923 0.5991 0.4019 0.5695 0.5093 0.6002 0.6089 0.5583 het 1171.50 92 3 140178485 . G A 1171.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.468;DP=92;Dels=0.00;FS=2.817;HRun=3;HaplotypeScore=0.9995;MQ=59.04;MQ0=0;MQRankSum=1.273;QD=12.73;ReadPosRankSum=-0.211;VQSLOD=6.5447;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,47:92:99:1201,0,1307 3 140281723 140281723 C T exonic CLSTN2 synonymous SNV CLSTN2:NM_022131:exon14:c.C2283T:p.S761S 0.34 0.067 0.5 0.1 0.68 0.48 0.5738 0.1441 0.4333 0.1026 0.6796 0.7255 0.6200 0.5300 0.52 0.16 0.71 0.32 0.68 rs11714465 COSM5009641 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5739 0.1367 0.4437 0.7426 0.1023 0.6842 0.7178 0.6204 0.5337 0.5047 0.1540 0.4579 0.6987 0.0962 0.6995 0.6972 0.6426 hom 2700.78 81 3 140281723 . C T 2700.78 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=33.34;VQSLOD=9.4969;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2734,220,0 3 140282861 140282861 C T exonic CLSTN2 synonymous SNV CLSTN2:NM_022131:exon16:c.C2541T:p.V847V 0.37 0.2 0.51 0.1 0.68 0.48 0.5843 0.2603 0.4393 0.1022 0.6797 0.7256 0.6256 0.5302 0.56 0.28 0.71 0.36 0.68 rs10804675 COSM4157316 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5823 0.2558 0.4497 0.7424 0.1022 0.6842 0.7181 0.6259 0.5340 0.5387 0.2717 0.4651 0.6987 0.0958 0.6994 0.6982 0.6477 hom 8359.87 239 3 140282861 . C T 8359.87 Mask AC=2;AF=1.00;AN=2;DP=239;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2521;MQ=59.57;MQ0=0;QD=34.98;VQSLOD=8.1110;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,239:239:99:8359,674,0 3 140401693 140401693 A G exonic TRIM42 nonsynonymous SNV TRIM42:NM_152616:exon2:c.A731G:p.K244R 1. 1. 1. 1. 1. 1. 0.9993 0.9995 0.9976 1 1 0.9992 0.9989 1 1. 1. 1. 1. 0.92 rs698673 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.377 0.134 N 1 0.090 P -0.695 0.019 N 1.16 0.381 T -0.1 0.085 N 0.059 0.043 -0.964 0.384 T 0.000 0.000 T . . . -2.511 0.003 0.001 0.121 0.002 0.010 0.037 N c -1.483 -1.412 0.000 0.046 0.487 0.133 0 1.87 0.244 0.178 0.165 -0.232 0.094 0.000 0.063 0.018 0.130 7.858 0.285 B-box-type zinc finger . . 0.9990 0.9995 0.9968 0.9999 1 1 0.9989 0.9989 1 0.9992 0.9998 0.9964 1 1 1 0.9987 0.9990 hom 7454.29 218 3 140401693 . A G 7454.29 Mask AC=2;AF=1.00;AN=2;DP=218;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2268;MQ=59.47;MQ0=0;QD=34.19;VQSLOD=7.5010;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,218:218:99:7454,587,0 3 140406947 140406947 G A exonic TRIM42 nonsynonymous SNV TRIM42:NM_152616:exon3:c.G1423A:p.V475M 0.4 0.27 0.51 0.39 0.53 0.38 0.5133 0.2991 0.5104 0.3959 0.5605 0.5763 0.5264 0.4378 0.49 0.31 0.58 0.34 0.57 rs28594654 COSM4419527 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.667 0.046 T 0.0 0.026 B 0.0 0.013 B 0.047 0.234 N 1 0.090 P -0.69 0.019 N 1.18 0.377 T 0.4 0.035 N 0.049 0.030 -0.934 0.436 T 0.000 0.000 T . . . 0.510 0.143 7.505 0.080 0.001 0.006 0.026 N c -1.060 -0.934 0.000 0.029 0.487 0.133 0 1.79 0.239 0.381 0.202 0.244 0.267 0.030 0.202 0.180 0.213 4.426 0.108 COS domain ENSG00000155890.3|ENSG00000250433.1 Testis|Testis 0.5190 0.2995 0.5205 0.5592 0.3951 0.5653 0.5754 0.5400 0.4409 0.4833 0.3083 0.5455 0.55 0.4014 0.5639 0.5669 0.5359 hom 3308.34 105 3 140406947 . G A 3308.34 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8936;MQ=59.19;MQ0=0;QD=31.51;VQSLOD=9.4599;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3308,256,0 3 140409837 140409837 G A exonic TRIM42 nonsynonymous SNV TRIM42:NM_152616:exon4:c.G1888A:p.V630M 0.002 0.0023 0.0058 . 0.003 . 0.0032 0.0005 0.0031 0 0.0020 0.0049 0.0055 0.0002 0.0035 0.0007 0.005 . 0.016 rs79845561 COSM3695846 1(large_intestine) . . . . . . . . . . . 0.002 0.721 D 1.0 0.899 D 0.999 0.916 D 0.000 0.559 D 0.885 0.358 D 0.895 0.225 L 0.38 0.576 T -1.05 0.275 N 0.846 0.833 -0.600 0.649 T 0.174 0.517 T 0.026 0.494 D 6.664 0.913 32 0.999 0.982 0.913 0.530 D c 0.623 0.667 0.562 0.214 0.487 0.133 0 5.82 0.927 4.260 0.584 1.048 0.713 1.000 0.715 0.991 0.552 15.601 0.763 Fibronectin type III|Immunoglobulin-like fold . . 0.0030 0.0007 0.0032 0.0003 5.798e-05 0.0016 0.0050 0.0053 0.0002 0.0024 0.0007 0.0012 0 0 0.0023 0.0037 0.0041 het 1393.43 95 3 140409837 . G A 1393.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.968;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=60.00;MQ0=0;MQRankSum=0.468;QD=14.67;ReadPosRankSum=0.019;VQSLOD=5.6392;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,52:95:99:1423,0,994 3 141327474 141327474 G A exonic RASA2 synonymous SNV RASA2:NM_001303245:exon21:c.G2163A:p.L721L,RASA2:NM_006506:exon21:c.G2160A:p.L720L,RASA2:NM_001303246:exon22:c.G2172A:p.L724L 0.45 0.73 0.46 0.29 0.38 0.3 0.3965 0.6776 0.4486 0.3198 0.3702 0.3741 0.3315 0.3279 0.48 0.67 0.39 0.52 0.34 rs295323 COSM5426205;COSM149482 2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3961 0.6794 0.4469 0.3702 0.3243 0.3720 0.3786 0.3762 0.3331 0.4531 0.6718 0.4414 0.3742 0.3292 0.3624 0.3695 0.3507 het 1145.53 113 3 141327474 . G A 1145.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.434;DP=113;Dels=0.00;FS=1.537;HRun=2;HaplotypeScore=3.6134;MQ=58.59;MQ0=0;MQRankSum=1.284;QD=10.14;ReadPosRankSum=0.334;VQSLOD=5.9656;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,49:113:99:1176,0,1721 3 141535558 141535558 A G exonic GRK7 nonsynonymous SNV GRK7:NM_139209:exon4:c.A1328G:p.E443G 0.056 0.052 0.066 0.014 0.11 0.047 0.0952 0.0618 0.0532 0.0088 0.0830 0.1269 0.1124 0.0498 0.11 0.065 0.13 0.033 0.12 rs36009541 . . . . . . . . . . . . . 0.517 0.073 T 0.003 0.102 B 0.005 0.104 B 0.013 0.290 N 1 0.090 P 0.38 0.122 N -0.43 0.697 T 1.32 0.009 N 0.052 0.034 -1.053 0.135 T 0.001 0.004 T . . . 1.375 0.229 12.66 0.938 0.232 0.075 0.134 N c -0.702 -0.485 0.639 0.220 0.497 0.185 0 5.4 0.779 1.153 0.311 1.140 0.893 0.514 0.268 1.000 0.888 5.923 0.182 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain . . 0.0931 0.0628 0.0614 0.1028 0.0098 0.0780 0.1305 0.0984 0.0498 0.0985 0.0619 0.0706 0.1159 0.0056 0.0741 0.1375 0.0857 het 840.48 69 3 141535558 . A G 840.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.993;DP=69;Dels=0.00;FS=2.744;HRun=1;HaplotypeScore=2.8585;MQ=59.46;MQ0=0;MQRankSum=1.108;QD=12.18;ReadPosRankSum=-0.490;VQSLOD=6.1046;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,30:69:99:870,0,1062 3 141535608 141535608 C A exonic GRK7 nonsynonymous SNV GRK7:NM_139209:exon4:c.C1378A:p.P460T 0.064 0.082 0.068 0.014 0.11 0.047 0.0988 0.0798 0.0542 0.0089 0.0830 0.1284 0.1148 0.0646 0.11 0.084 0.13 0.043 0.14 rs33928105 . . . . . . . . . . . . . 0.106 0.296 T 0.201 0.280 B 0.058 0.250 B 0.003 0.363 N 0.929 0.271 P 1.61 0.413 L 1.84 0.247 T -0.36 0.131 N 0.062 0.047 -1.073 0.087 T 0.001 0.002 T . . . 2.423 0.353 18.97 0.970 0.316 0.956 0.651 D c -0.194 -0.088 0.917 0.265 0.447 0.083 0 2.52 0.294 3.376 0.519 -1.082 0.019 1.000 0.715 0.969 0.458 7.286 0.254 AGC-kinase\x2c C-terminal|Protein kinase-like domain . . 0.0945 0.0827 0.0627 0.1010 0.0098 0.0775 0.1316 0.0999 0.0492 0.1033 0.0796 0.0692 0.1167 0.0062 0.0738 0.1371 0.0878 het 1299.54 128 3 141535608 . C A 1299.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.162;DP=128;Dels=0.00;FS=4.454;HRun=0;HaplotypeScore=0.8667;MQ=59.23;MQ0=0;MQRankSum=0.732;QD=10.15;ReadPosRankSum=0.245;VQSLOD=5.4900;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,55:128:99:1330,0,2036 3 142168331 142168331 C T exonic ATR synonymous SNV ATR:NM_001184:exon47:c.G7875A:p.Q2625Q 0.92 0.99 0.81 0.93 0.87 0.94 0.8646 0.9721 0.7549 0.9302 0.8134 0.8463 0.8488 0.9348 0.9 0.97 0.86 0.94 0.88 rs1802904 . . other|Benign not_specified|Seckel_syndrome RCV000079601.6|RCV000366216.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265202:ORPHA808:57917004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8574 0.9730 0.7559 0.7772 0.9330 0.8111 0.8558 0.8352 0.9373 0.8880 0.9702 0.7775 0.8079 0.9420 0.7995 0.8651 0.8510 hom 4482.35 149 3 142168331 . C T 4482.35 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=30.08;VQSLOD=8.8879;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4482,334,0 3 142178144 142178144 C T exonic ATR nonsynonymous SNV ATR:NM_001184:exon43:c.G7274A:p.R2425Q 0.1 0.066 0.1 0.1 0.17 0.08 0.1328 0.0808 0.0969 0.1019 0.1665 0.1571 0.1545 0.0939 0.13 0.088 0.16 0.11 0.14 rs2229032 COSM149485 1(stomach);2(haematopoietic_and_lymphoid_tissue);12(soft_tissue);1(thyroid);1(upper_aerodigestive_tract) Benign|Likely benign not_specified|Seckel_syndrome RCV000145330.2|RCV000321936.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265202:ORPHA808:57917004 . . . . . . 0.56 0.064 T 0.0 0.026 B 0.001 0.040 B 0.249 0.155 N 0.998 0.224 P 0.615 0.157 N -1.0 0.760 T 0.04 0.065 N 0.019 0.223 -1.105 0.035 T 0.001 0.002 T . . . 1.116 0.201 11.30 0.842 0.146 0.231 0.218 N c -1.517 -1.496 0.999 0.388 0.706 0.609 0 -9.12 0.006 0.037 0.136 -1.656 0.008 0.961 0.334 0.958 0.437 19.102 0.932 Phosphatidylinositol 3-/4-kinase\x2c catalytic domain ENSG00000120756.8 Artery_Aorta 0.1310 0.0788 0.0991 0.0792 0.0983 0.1659 0.1599 0.1315 0.0961 0.1332 0.0813 0.1160 0.0728 0.1017 0.1746 0.1584 0.1469 het 892.04 55 3 142178144 . C T 892.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.486;DP=55;Dels=0.00;FS=1.040;HRun=1;HaplotypeScore=1.8410;MQ=59.58;MQ0=0;MQRankSum=-1.196;QD=16.22;ReadPosRankSum=-0.178;VQSLOD=6.1227;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,31:55:99:922,0,586 3 142222284 142222284 A G exonic ATR synonymous SNV ATR:NM_001184:exon30:c.T5208C:p.Y1736Y 0.31 0.21 0.35 0.35 0.39 0.3 0.3640 0.2179 0.3168 0.3579 0.3949 0.4131 0.3730 0.2768 0.35 0.21 0.42 0.34 0.43 rs2227931 COSM4002479 1(haematopoietic_and_lymphoid_tissue);3(large_intestine);1(biliary_tract) Likely benign|Benign not_specified|Seckel_syndrome RCV000145318.1|RCV000271882.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265202:ORPHA808:57917004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3602 0.2000 0.3180 0.4630 0.3607 0.3890 0.4046 0.3862 0.2653 0.3410 0.1968 0.3349 0.4570 0.3739 0.3724 0.4087 0.3947 het 1450 134 3 142222284 . A G 1450 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.202;DP=134;Dels=0.00;FS=3.462;HRun=1;HaplotypeScore=8.3313;MQ=57.94;MQ0=0;MQRankSum=0.357;QD=10.82;ReadPosRankSum=-0.187;VQSLOD=4.2651;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,63:134:99:1480,0,1765 3 142277536 142277536 A G exonic ATR synonymous SNV ATR:NM_001184:exon8:c.T1815C:p.D605D 0.31 0.2 0.35 0.36 0.39 0.3 0.3516 0.2034 0.3099 0.3554 0.3846 0.3983 0.3634 0.2697 0.35 0.21 0.41 0.33 0.44 rs2227929 COSM4002481 1(haematopoietic_and_lymphoid_tissue);1(kidney);3(large_intestine) Benign|Benign not_specified|Seckel_syndrome RCV000145292.4|RCV000350591.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265202:ORPHA808:57917004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3568 0.1986 0.3188 0.4551 0.3613 0.3830 0.3991 0.3856 0.2653 0.3358 0.1941 0.3329 0.4470 0.3747 0.3638 0.4022 0.3837 het 3968.68 250 3 142277536 . A G 3968.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.187;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8498;MQ=59.48;MQ0=0;MQRankSum=0.240;QD=15.87;ReadPosRankSum=-0.138;VQSLOD=5.5175;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:127,123:250:99:3303,0,3513 3 142277575 142277575 A T exonic ATR synonymous SNV ATR:NM_001184:exon8:c.T1776A:p.G592G 0.6 0.85 0.51 0.47 0.59 0.46 0.5529 0.8024 0.4389 0.4642 0.5537 0.5741 0.5518 0.4362 0.66 0.8 0.59 0.66 0.65 rs2227930 COSM149486 1(stomach);1(haematopoietic_and_lymphoid_tissue);20(soft_tissue);1(pancreas);2(large_intestine) other|Benign not_specified|Seckel_syndrome RCV000145291.5|RCV000306424.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265202:ORPHA808:57917004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5456 0.7983 0.4526 0.5640 0.4670 0.5519 0.5789 0.5544 0.4320 0.6300 0.7950 0.4976 0.5728 0.4851 0.5406 0.5824 0.5704 hom 8302.48 249 3 142277575 . A T 8302.48 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.9829;MQ=59.50;MQ0=0;MQRankSum=1.718;QD=33.34;ReadPosRankSum=1.301;VQSLOD=6.2276;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,248:249:99:8301,680,0 3 142281612 142281612 A G exonic ATR nonsynonymous SNV ATR:NM_001184:exon4:c.T632C:p.M211T 0.6 0.85 0.51 0.47 0.59 0.46 0.5540 0.8000 0.4404 0.4658 0.5544 0.5752 0.5520 0.4390 0.66 0.79 0.6 0.69 0.57 rs2227928 COSM149487 1(stomach);1(haematopoietic_and_lymphoid_tissue);20(soft_tissue);4(prostate);3(large_intestine) other|Benign not_specified|Seckel_syndrome RCV000079600.6|RCV000267092.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265202:ORPHA808:57917004 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.299 0.146 N 1.000 0.090 P 0.145 0.088 N -0.14 0.650 T -0.2 0.102 N 0.018 0.003 -0.930 0.442 T 0.000 0.000 T . . . -0.115 0.083 1.622 0.593 0.060 0.108 0.160 N c -0.764 -0.533 0.498 0.209 0.651 0.465 0 4.6 0.564 1.477 0.348 -0.247 0.091 0.937 0.323 0.958 0.437 4.074 0.093 . ENSG00000242479.1|ENSG00000175054.10|ENSG00000242479.1|ENSG00000242479.1|ENSG00000242479.1|ENSG00000175054.10|ENSG00000242479.1|ENSG00000175054.10|ENSG00000242479.1|ENSG00000272565.1|ENSG00000242479.1|ENSG00000175054.10|ENSG00000114127.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid 0.5475 0.7950 0.4548 0.5664 0.4683 0.5524 0.5799 0.5552 0.4358 0.6291 0.7916 0.4964 0.5728 0.4845 0.5404 0.5832 0.5708 hom 1420.99 48 3 142281612 . A G 1420.99 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;QD=29.60;VQSLOD=8.2706;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1454,123,0 3 142408606 142408606 G A exonic PLS1 synonymous SNV PLS1:NM_001145319:exon10:c.G1128A:p.P376P,PLS1:NM_001172312:exon10:c.G1128A:p.P376P,PLS1:NM_002670:exon10:c.G1128A:p.P376P 0.62 0.94 0.47 0.4 0.66 0.46 0.5942 0.8983 0.3837 0.3710 0.6917 0.6358 0.6148 0.4572 0.73 0.89 0.65 0.65 0.73 rs6793735 COSM149488 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5851 0.9014 0.3993 0.6194 0.3719 0.6893 0.6397 0.5924 0.4509 0.7025 0.8975 0.4520 0.6060 0.3914 0.6917 0.6446 0.6445 hom 4478.36 143 3 142408606 . G A 4478.36 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5107;MQ=58.83;MQ0=0;QD=31.32;VQSLOD=6.4842;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4478,358,0 3 145917761 145917761 T C exonic PLSCR4 nonsynonymous SNV PLSCR4:NM_001128305:exon6:c.A463G:p.I155V,PLSCR4:NM_020353:exon6:c.A463G:p.I155V,PLSCR4:NM_001128304:exon8:c.A463G:p.I155V 0.24 0.099 0.38 0.19 0.34 0.27 0.3215 0.1489 0.4095 0.1912 0.4111 0.3460 0.3315 0.3026 0.28 0.15 0.35 0.22 0.37 rs1061409 COSM3759810 1(large_intestine) . . . . . . . . . . . 0.092 0.342 T 0.0 0.026 B 0.001 0.040 B 0.824 0.092 N 1.000 0.409 P 1.265 0.321 L 1.57 0.293 T -0.71 0.206 N 0.015 0.019 -0.926 0.447 T 0.000 0.000 T . . . -0.118 0.083 1.596 0.828 0.139 0.052 0.108 N c -1.177 -1.212 0.703 0.227 0.707 0.730 0 -4.72 0.030 -0.386 0.074 -0.276 0.085 0.205 0.241 0.774 0.328 2.874 0.052 . ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10 Adipose_Subcutaneous|Artery_Aorta|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.3289 0.1455 0.3968 0.4162 0.1931 0.4146 0.3361 0.3464 0.3030 0.2926 0.1504 0.3950 0.4404 0.2145 0.3966 0.3474 0.3432 het 776.70 72 3 145917761 . T C 776.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.796;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.16;MQ0=0;MQRankSum=0.265;QD=10.79;ReadPosRankSum=0.648;VQSLOD=6.8823;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,36:72:99:807,0,882 3 145938619 145938619 T C exonic PLSCR4 nonsynonymous SNV PLSCR4:NM_001177304:exon2:c.A56G:p.N19S,PLSCR4:NM_001128305:exon3:c.A101G:p.N34S,PLSCR4:NM_001128306:exon3:c.A101G:p.N34S,PLSCR4:NM_020353:exon3:c.A101G:p.N34S,PLSCR4:NM_001128304:exon5:c.A101G:p.N34S 0.31 0.35 0.41 0.19 0.34 0.27 0.3481 0.3678 0.4368 0.1914 0.4135 0.3536 0.3405 0.3082 0.35 0.35 0.35 0.29 0.33 rs3762685 COSM3759811 1(large_intestine) . . . . . . . . . . . 0.399 0.614 T 0.0 0.067 B 0.0 0.063 B 0.998 0.080 N 1 0.090 P 0.97 0.241 L 1.04 0.402 T -0.94 0.757 N 0.013 0.018 -0.956 0.400 T 0.000 0.000 T . . . -1.829 0.010 0.002 0.723 0.096 0.010 0.037 N c -1.597 -1.667 1.000 0.747 0.507 0.198 0 -8.49 0.008 -2.246 0.013 -0.289 0.083 0.007 0.175 0.966 0.452 0.804 0.010 . ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10 Adipose_Subcutaneous|Artery_Aorta|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.3448 0.3571 0.4138 0.4348 0.1892 0.4116 0.3371 0.3547 0.3005 0.3506 0.3533 0.4057 0.4768 0.2148 0.3932 0.3484 0.3462 het 610.26 44 3 145938619 . T C 610.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.946;DP=44;Dels=0.00;FS=6.617;HRun=0;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;MQRankSum=0.340;QD=13.87;ReadPosRankSum=0.880;VQSLOD=5.4216;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,22:44:99:640,0,482 3 148562310 148562310 G A exonic CPB1 nonsynonymous SNV CPB1:NM_001871:exon7:c.G622A:p.D208N 0.27 0.35 0.14 0.3 0.2 0.3 0.2290 0.3125 0.1462 0.2615 0.2398 0.2089 0.2223 0.2937 0.24 0.31 0.21 0.28 0.21 rs1059502 COSM3759819 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.882 0.025 T 0.005 0.119 B 0.01 0.139 B 0.276 0.150 N 1.000 0.090 P 0.665 0.163 N 1.45 0.325 T -0.97 0.258 N 0.017 0.107 -0.944 0.420 T 0.000 0.000 T . . . -1.538 0.016 0.002 0.274 0.014 0.078 0.136 N c -1.821 -1.804 0.000 0.035 0.487 0.133 0 -2.76 0.055 -0.624 0.056 -0.812 0.031 0.000 0.063 0.415 0.257 10.213 0.421 Peptidase M14\x2c carboxypeptidase A . . 0.2241 0.3127 0.1498 0.1241 0.2689 0.2336 0.2183 0.1854 0.2888 0.2475 0.3052 0.1511 0.1325 0.2590 0.2351 0.2242 0.2347 het 1128.23 79 3 148562310 . G A 1128.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.959;DP=79;Dels=0.00;FS=1.854;HRun=1;HaplotypeScore=1.4450;MQ=58.97;MQ0=0;MQRankSum=1.554;QD=14.28;ReadPosRankSum=-1.406;VQSLOD=6.0418;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,44:79:99:1158,0,792 3 148597612 148597612 C T exonic CPA3 nonsynonymous SNV CPA3:NM_001870:exon6:c.C512T:p.T171M 0.97 1. 0.96 0.95 0.96 0.97 0.9577 0.9909 0.9165 0.9484 0.9773 0.9589 0.9626 0.9575 0.97 0.99 0.95 1. 0.93 rs12489516 . . . . . . . . . . . . . 0.689 0.043 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.194 P -3.295 0.000 N 1.65 0.276 T 3.5 0.001 N 0.093 0.092 -0.949 0.412 T 0.000 0.000 T . . . 2.812 0.399 21.4 0.855 0.154 0.052 0.109 N c -0.850 -0.518 0.996 0.343 0.487 0.133 0 4.77 0.603 5.043 0.638 0.119 0.209 1.000 0.715 0.997 0.653 9.934 0.405 Peptidase M14\x2c carboxypeptidase A . . 0.9566 0.9920 0.9233 0.9828 0.9458 0.9783 0.9564 0.9603 0.9570 0.9690 0.9922 0.9199 0.9735 0.9388 0.9814 0.9586 0.9684 hom 3365.39 114 3 148597612 . C T 3365.39 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=58.49;MQ0=0;QD=29.52;VQSLOD=8.8098;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3365,259,0 3 148727133 148727133 G A exonic GYG1 synonymous SNV GYG1:NM_001184720:exon5:c.G552A:p.P184P,GYG1:NM_001184721:exon5:c.G552A:p.P184P,GYG1:NM_004130:exon5:c.G552A:p.P184P 0.3 0.28 0.31 0.33 0.34 0.26 0.3125 0.2747 0.3527 0.3038 0.3963 0.3136 0.3117 0.2746 0.29 0.27 0.3 0.3 0.33 rs4938 COSM3759820 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000435478.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3144 0.2720 0.3516 0.2948 0.3014 0.3964 0.3079 0.3125 0.2728 0.3052 0.2707 0.3493 0.3046 0.3028 0.4129 0.2944 0.3571 het 1958.66 163 3 148727133 . G A 1958.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.437;DP=163;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=5.7560;MQ=58.57;MQ0=0;MQRankSum=0.387;QD=12.02;ReadPosRankSum=-0.231;VQSLOD=5.3706;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,80:163:99:1989,0,1957 3 148759325 148759325 T C exonic HLTF synonymous SNV HLTF:NM_001318934:exon20:c.A2325G:p.A775A,HLTF:NM_001318935:exon20:c.A2328G:p.A776A,HLTF:NM_003071:exon20:c.A2328G:p.A776A,HLTF:NM_139048:exon20:c.A2328G:p.A776A 0.32 0.32 0.31 0.34 0.34 0.27 0.3187 0.3071 0.3531 0.3128 0.3950 0.3162 0.3161 0.2843 0.31 0.3 0.31 0.3 0.32 rs2290725 COSM3759821 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3195 0.3045 0.3529 0.2932 0.3119 0.3946 0.3104 0.3152 0.2827 0.3153 0.3025 0.3565 0.2980 0.3180 0.4109 0.2954 0.3574 het 1463.11 134 3 148759325 . T C 1463.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.371;DP=134;Dels=0.00;FS=2.402;HRun=0;HaplotypeScore=1.9155;MQ=58.54;MQ0=0;MQRankSum=0.403;QD=10.92;ReadPosRankSum=0.224;VQSLOD=6.2554;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,59:134:99:1493,0,1951 3 148786108 148786108 C T exonic HLTF synonymous SNV HLTF:NM_001318934:exon8:c.G909A:p.T303T,HLTF:NM_001318935:exon8:c.G909A:p.T303T,HLTF:NM_003071:exon8:c.G909A:p.T303T,HLTF:NM_139048:exon8:c.G909A:p.T303T 0.74 0.87 0.81 0.71 0.74 0.56 0.7161 0.8381 0.8406 0.7047 0.7077 0.7108 0.7384 0.5815 0.75 0.83 0.71 0.74 0.66 rs812249 COSM1130320 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7148 0.8339 0.8233 0.8198 0.7019 0.7014 0.7010 0.7476 0.5680 0.7369 0.8307 0.8289 0.7980 0.7213 0.7109 0.6853 0.7127 het 1456.83 138 3 148786108 . C T 1456.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.487;DP=138;DS;Dels=0.00;FS=12.026;HRun=0;HaplotypeScore=1.5731;MQ=59.32;MQ0=0;MQRankSum=0.138;QD=10.56;ReadPosRankSum=-0.310;VQSLOD=4.2278;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,55:138:99:1487,0,2030 3 148872987 148872987 G A exonic HPS3 synonymous SNV HPS3:NM_001308258:exon7:c.G999A:p.Q333Q,HPS3:NM_032383:exon8:c.G1494A:p.Q498Q 0.49 0.7 0.35 0.36 0.43 0.5 0.4566 0.6678 0.2772 0.3695 0.4546 0.4539 0.4369 0.5071 0.51 0.66 0.44 0.56 0.43 rs6440589 . . Benign|Benign not_specified|Hermansky-Pudlak_syndrome RCV000150816.2|RCV000407920.1 MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4449 0.6740 0.2933 0.4016 0.3650 0.4632 0.4545 0.4380 0.5084 0.5134 0.6603 0.3091 0.3867 0.3676 0.4567 0.4727 0.4857 hom 2515.43 84 3 148872987 . G A 2515.43 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9700;MQ=58.72;MQ0=0;QD=29.95;VQSLOD=8.8326;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2548,208,0 3 148881673 148881673 C T exonic HPS3 synonymous SNV HPS3:NM_001308258:exon13:c.C2031T:p.H677H,HPS3:NM_032383:exon14:c.C2526T:p.H842H 0.16 0.014 0.14 0.27 0.18 0.21 0.1870 0.0427 0.1234 0.2843 0.2476 0.1980 0.1823 0.2019 0.14 0.046 0.19 0.087 0.16 rs3732557 COSM5486994 1(large_intestine) Benign|Benign not_specified|Hermansky-Pudlak_syndrome RCV000150817.2|RCV000379483.1 MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1865 0.0394 0.1256 0.1067 0.2779 0.2535 0.2006 0.1670 0.2045 0.1739 0.0434 0.1268 0.1258 0.2754 0.2427 0.2240 0.2106 het 748.46 96 3 148881673 . C T 748.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.847;DP=96;Dels=0.00;FS=2.820;HRun=0;HaplotypeScore=2.4708;MQ=58.49;MQ0=0;MQRankSum=0.632;QD=7.80;ReadPosRankSum=-0.563;VQSLOD=5.4847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,34:96:99:778,0,1458 3 149093238 149093238 A G exonic TM4SF1 synonymous SNV TM4SF1:NM_014220:exon3:c.T405C:p.T135T 0.89 0.96 0.92 0.86 0.84 0.87 0.8778 0.9549 0.9109 0.8801 0.9214 0.8622 0.8822 0.8498 0.89 0.95 0.86 0.91 0.8 rs4771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8779 0.9566 0.9079 0.8561 0.8787 0.9209 0.8591 0.8719 0.8511 0.8994 0.9550 0.8971 0.8841 0.8637 0.9219 0.8672 0.8837 hom 3644.03 119 3 149093238 . A G 3644.03 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5983;MQ=60.00;MQ0=0;QD=30.62;VQSLOD=9.0306;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3643,301,0 3 149192676 149192676 G A exonic TM4SF4 synonymous SNV TM4SF4:NM_004617:exon1:c.G12A:p.G4G 0.19 0.051 0.36 0.021 0.41 0.2 0.3106 0.0952 0.3239 0.0199 0.3322 0.3958 0.3616 0.2256 0.3 0.099 0.39 0.15 . rs12488126 COSM4157358 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3156 0.0918 0.3336 0.3631 0.0180 0.3364 0.4001 0.3666 0.2282 0.2805 0.1015 0.3325 0.3874 0.0185 0.3339 0.3933 0.3180 het 725.70 66 3 149192676 . G A 725.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.251;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=57.93;MQ0=0;MQRankSum=1.105;QD=11.00;ReadPosRankSum=-0.617;VQSLOD=6.1156;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,31:66:99:756,0,836 3 149193684 149193684 T C exonic TM4SF4 synonymous SNV TM4SF4:NM_004617:exon2:c.T249C:p.C83C 0.23 0.23 0.3 0.07 0.4 0.17 0.3611 0.2916 0.3272 0.0835 0.4207 0.4303 0.3889 0.2477 0.37 0.26 0.42 0.24 . rs1802837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3388 0.2623 0.3056 0.3612 0.0723 0.3936 0.4179 0.3529 0.2266 0.3478 0.2636 0.3182 0.3444 0.0562 0.3944 0.4186 0.3599 het 226.72 17 3 149193684 . T C 226.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.049;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.927;QD=13.34;ReadPosRankSum=-1.220;VQSLOD=11.4075;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,10:17:99:257,0,152 3 149459341 149459341 A G exonic COMMD2 synonymous SNV COMMD2:NM_016094:exon5:c.T567C:p.N189N 0.78 0.97 0.6 0.82 0.67 0.72 0.7031 0.9272 0.5206 0.7966 0.6354 0.6873 0.6938 0.7318 0.77 0.92 0.69 0.84 0.67 rs7633238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6909 0.9319 0.5270 0.7563 0.7989 0.6388 0.6831 0.6854 0.7353 0.7401 0.9195 0.5692 0.7517 0.7978 0.6226 0.6699 0.6806 hom 3080.51 97 3 149459341 . A G 3080.51 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.38;MQ0=0;QD=31.76;VQSLOD=8.8362;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3114,241,0 3 149459413 149459413 C T exonic COMMD2 synonymous SNV COMMD2:NM_016094:exon5:c.G495A:p.L165L 0.28 0.61 0.14 0.26 0.079 0.17 0.1433 0.5301 0.1547 0.2486 0.0523 0.0796 0.1156 0.1322 0.23 0.52 0.081 0.38 0.09 rs11549572 COSM5653982 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1352 0.5346 0.1495 0.1221 0.2449 0.0570 0.0779 0.1134 0.1318 0.2111 0.5238 0.1595 0.1167 0.2460 0.0550 0.0745 0.1010 het 1688.55 143 3 149459413 . C T 1688.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.275;DP=143;Dels=0.00;FS=1.335;HRun=0;HaplotypeScore=9.5553;MQ=59.30;MQ0=0;MQRankSum=-0.443;QD=11.81;ReadPosRankSum=0.986;VQSLOD=3.9310;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,66:143:99:1719,0,2220 3 149468530 149468530 T G exonic COMMD2 nonsynonymous SNV COMMD2:NM_016094:exon4:c.A337C:p.I113L 0.24 0.045 0.27 0.25 0.41 0.3 0.3531 0.0970 0.1973 0.2368 0.3676 0.4341 0.3645 0.3511 0.32 0.11 0.42 0.15 0.33 rs9843784 COSM3759825 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.16 0.237 T 0.016 0.161 B 0.011 0.145 B 0.000 0.629 D 0.017 0.400 P 2.1 0.585 M 3.07 0.086 T -1.02 0.268 N 0.141 0.165 -0.913 0.465 T 0.000 0.000 T . . . 2.176 0.323 17.35 0.972 0.322 0.882 0.477 D c -0.296 -0.173 1.000 0.489 0.732 0.924 0 2.7 0.309 2.380 0.437 1.061 0.807 0.997 0.399 0.959 0.439 11.807 0.512 . ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3518 0.0957 0.2110 0.4730 0.2434 0.3734 0.4301 0.3745 0.3487 0.3119 0.0971 0.2231 0.5099 0.2528 0.3610 0.4280 0.3885 het 2346.60 235 3 149468530 . T G 2346.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.627;DP=235;Dels=0.00;FS=4.518;HRun=0;HaplotypeScore=5.9081;MQ=58.67;MQ0=0;MQRankSum=0.075;QD=9.99;ReadPosRankSum=0.005;VQSLOD=4.8293;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,99:235:99:2377,0,3371 3 150128154 150128154 T C exonic TSC22D2 synonymous SNV TSC22D2:NM_001303264:exon1:c.T1017C:p.P339P,TSC22D2:NM_014779:exon1:c.T1017C:p.P339P 0.085 0.041 0.088 0.032 0.17 0.11 0.1883 0.0928 0.0840 0.0390 0.1927 0.2440 0.1732 0.1619 0.12 0.052 0.15 0.043 0.09 rs61734437 COSM1419887 10(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1374 0.0615 0.0679 0.0591 0.0263 0.1308 0.2024 0.1344 0.1327 0.1396 0.0674 0.0885 0.0795 0.0272 0.1332 0.1984 0.1538 het 240.81 27 3 150128154 . T C 240.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.577;DP=27;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.126;QD=8.92;ReadPosRankSum=1.180;VQSLOD=11.1288;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,10:27:99:271,0,483 3 150128484 150128484 C A exonic TSC22D2 synonymous SNV TSC22D2:NM_001303264:exon1:c.C1347A:p.V449V,TSC22D2:NM_014779:exon1:c.C1347A:p.V449V 0.13 0.19 0.11 0.032 0.17 0.1 0.2575 0.3372 0.1910 0.0778 0.2850 0.3206 0.1983 0.1628 0.19 0.19 0.19 0.12 0.066 rs3749400 COSM3749823 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1475 0.2061 0.0778 0.0616 0.0264 0.1333 0.2070 0.1369 0.1374 0.1780 0.2018 0.0969 0.0795 0.0266 0.1333 0.1988 0.1578 het 121.96 14 3 150128484 . C A 121.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;MQRankSum=0.101;QD=8.71;ReadPosRankSum=-2.627;VQSLOD=4.7104;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,6:14:99:152,0,195 3 150128994 150128994 T G exonic TSC22D2 synonymous SNV TSC22D2:NM_001303264:exon1:c.T1857G:p.P619P,TSC22D2:NM_014779:exon1:c.T1857G:p.P619P 0.083 0.039 0.088 0.032 0.17 0.098 0.1476 0.0676 0.0637 0.0277 0.1289 0.1972 0.1269 0.1271 0.16 0.071 0.2 0.087 0.11 rs34647320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1425 0.0649 0.0693 0.0604 0.0270 0.1333 0.2057 0.1360 0.1304 0.1390 0.0660 0.0887 0.0795 0.0271 0.1331 0.1979 0.1538 het 884.20 69 3 150128994 . T G 884.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.050;DP=69;Dels=0.00;FS=0.939;HRun=1;HaplotypeScore=3.2418;MQ=58.57;MQ0=0;MQRankSum=1.974;QD=12.81;ReadPosRankSum=0.618;VQSLOD=5.4553;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,34:69:99:914,0,907 3 150280445 150280445 C G exonic EIF2A nonsynonymous SNV EIF2A:NM_001319043:exon3:c.C215G:p.T72S,EIF2A:NM_001319044:exon4:c.C290G:p.T97S,EIF2A:NM_001319045:exon4:c.C275G:p.T92S,EIF2A:NM_032025:exon4:c.C290G:p.T97S 0.35 0.16 0.36 0.49 0.36 0.47 0.3893 0.1845 0.4023 0.4970 0.3696 0.3845 0.3689 0.4681 0.29 0.17 0.35 0.34 . rs1132979 COSM4002486;COSM149497 1(stomach);3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.5 0.104 T 0.007 0.131 B 0.007 0.121 B 0.001 0.400 N 0.005 0.810 P 0.25 0.098 N 0.9 0.540 T -0.83 0.338 N 0.017 0.126 -0.940 0.426 T 0.000 0.000 T . . . 2.513 0.363 19.55 0.971 0.320 0.935 0.580 D c -0.252 0.017 1.000 0.448 0.732 0.924 0 5.86 0.939 2.771 0.471 0.892 0.403 0.998 0.411 0.991 0.552 20.189 0.982 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40/YVTN repeat-like-containing domain ENSG00000198843.8 Cells_Transformed_fibroblasts 0.3672 0.1659 0.3679 0.3595 0.4772 0.3495 0.3581 0.3850 0.4490 0.3133 0.1705 0.3825 0.3742 0.4547 0.3579 0.3636 0.3473 het 454.54 40 3 150280445 . C G 454.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.085;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7329;MQ=58.48;MQ0=0;MQRankSum=0.921;QD=11.36;ReadPosRankSum=-0.027;VQSLOD=5.4583;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,19:40:99:485,0,549 3 150421419 150421419 G A exonic ERICH6 synonymous SNV ERICH6:NM_152394:exon1:c.C267T:p.D89D 0.32 0.22 0.46 0.36 0.46 0.19 0.4131 0.2504 0.4123 0.3740 0.5282 0.4845 0.4447 0.2009 0.41 0.26 0.48 0.38 0.53 rs17281287 COSM1180124 1(liver);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4193 0.2482 0.4276 0.4731 0.3714 0.5286 0.4796 0.4528 0.2015 0.4212 0.2631 0.4460 0.4934 0.3532 0.5453 0.4870 0.4477 hom 2265.52 74 3 150421419 . G A 2265.52 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.62;VQSLOD=13.2763;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2299,181,0 3 150917000 150917000 T G exonic GPR171 synonymous SNV GPR171:NM_013308:exon3:c.A174C:p.T58T 0.12 0.22 0.085 0.07 0.067 0.11 0.0840 0.2066 0.0436 0.0816 0.0275 0.0719 0.0760 0.1083 0.12 0.2 0.071 0.098 0.025 rs3773614 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0807 0.2107 0.0485 0.1187 0.0788 0.0277 0.0714 0.0790 0.1122 0.0977 0.1938 0.0501 0.1093 0.0821 0.0240 0.0660 0.0531 het 1182.25 95 3 150917000 . T G 1182.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.270;DP=95;Dels=0.00;FS=2.845;HRun=1;HaplotypeScore=1.8519;MQ=59.15;MQ0=0;MQRankSum=-1.241;QD=12.44;ReadPosRankSum=0.280;VQSLOD=6.1393;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,45:95:99:1212,0,1351 3 151012497 151012497 T C exonic GPR87 synonymous SNV GPR87:NM_023915:exon3:c.A537G:p.L179L 0.8 0.87 0.86 0.72 0.78 0.79 0.7921 0.8353 0.8517 0.7099 0.7700 0.7829 0.8051 0.8111 0.8 0.84 0.78 0.74 0.8 rs2242353 COSM5033856 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7933 0.8360 0.8477 0.8386 0.7163 0.7703 0.7780 0.7941 0.8134 0.7890 0.8347 0.8150 0.7980 0.7274 0.7736 0.7718 0.7778 hom 7242.65 225 3 151012497 . T C 7242.65 Mask AC=2;AF=1.00;AN=2;DP=225;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6229;MQ=59.24;MQ0=0;QD=32.19;VQSLOD=9.7458;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,225:225:99:7242,560,0 3 151046308 151046308 G A exonic P2RY13 nonsynonymous SNV P2RY13:NM_176894:exon2:c.C536T:p.T179M 0.9 0.97 0.91 0.85 0.83 0.9 0.8636 0.9510 0.8931 0.8397 0.8441 0.8405 0.8866 0.9007 0.87 0.95 0.83 0.87 0.84 rs1466684 COSM5653985;COSM5653984 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.000 0.523 N 0.000 0.588 P -3.165 0.000 N 1.15 0.382 T 3.17 0.001 N 0.035 0.015 -0.950 0.409 T 0.000 0.000 T . . . -0.155 0.080 1.356 0.709 0.091 0.058 0.116 N c -1.048 -0.816 1.000 0.747 0.526 0.212 0 4.28 0.500 5.038 0.637 0.244 0.267 0.863 0.304 0.960 0.441 10.080 0.414 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.8618 0.9528 0.8895 0.8844 0.8427 0.8412 0.8346 0.8611 0.9029 0.8676 0.9528 0.8708 0.8676 0.8420 0.8357 0.8292 0.8504 hom 2545.09 82 3 151046308 . G A 2545.09 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7784;MQ=58.69;MQ0=0;QD=31.04;VQSLOD=8.9544;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2578,202,0 3 151056598 151056598 A C exonic P2RY12 synonymous SNV P2RY12:NM_176876:exon2:c.T36G:p.G12G,P2RY12:NM_022788:exon3:c.T36G:p.G12G 0.91 0.99 0.92 0.9 0.83 0.9 0.8703 0.9677 0.8972 0.8853 0.8452 0.8438 0.8888 0.8982 0.88 0.96 0.84 0.89 0.84 rs6809699 COSM5653986 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000245981.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8681 0.9689 0.8940 0.8849 0.8888 0.8423 0.8377 0.8665 0.9018 0.8752 0.9675 0.8747 0.8676 0.8846 0.8364 0.8312 0.8523 hom 965.90 34 3 151056598 . A C 965.90 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=58.76;MQ0=0;QD=28.41;VQSLOD=7.1355;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:34:81.22:999,81,0 3 151056616 151056616 G A exonic P2RY12 synonymous SNV P2RY12:NM_176876:exon2:c.C18T:p.N6N,P2RY12:NM_022788:exon3:c.C18T:p.N6N 0.24 0.17 0.28 0.21 0.32 0.27 0.2930 0.1862 0.3272 0.2326 0.3677 0.3037 0.3245 0.2936 0.27 0.19 0.32 0.27 0.24 rs6785930 . . Benign not_specified RCV000242918.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2954 0.1825 0.3227 0.1967 0.2288 0.3685 0.3071 0.3075 0.2935 0.2768 0.1829 0.2912 0.1556 0.2177 0.3840 0.3120 0.3136 hom 1046.87 36 3 151056616 . G A 1046.87 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.18;MQ0=0;QD=29.08;VQSLOD=8.3882;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:87.26:1080,87,0 3 151090424 151090424 G A exonic MED12L nonsynonymous SNV MED12L:NM_053002:exon25:c.G3629A:p.R1210Q 0.2 0.029 0.31 0.14 0.38 0.25 0.3060 0.0775 0.2732 0.1388 0.3989 0.3695 0.3282 0.2653 0.28 0.082 0.38 0.14 0.3 rs3732765 COSM149499 1(stomach);10(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.584 0.059 T 0.828 0.441 P 0.403 0.428 B 0.000 0.559 D 1.000 0.476 P 0.69 0.170 N 0.44 0.599 T -0.25 0.110 N 0.106 0.112 -0.973 0.365 T 0.000 0.000 T . . . 2.520 0.364 19.60 0.962 0.285 0.801 0.395 D c 0.062 0.195 1.000 0.747 0.615 0.372 0 4.95 0.648 3.955 0.562 1.048 0.713 0.642 0.279 0.928 0.402 11.070 0.470 . ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid 0.3107 0.0754 0.2793 0.3174 0.1399 0.4022 0.3720 0.3328 0.2638 0.2840 0.0891 0.2852 0.3079 0.1337 0.4017 0.3803 0.3704 het 1697.66 144 3 151090424 . G A 1697.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.191;DP=144;Dels=0.00;FS=3.045;HRun=1;HaplotypeScore=2.9453;MQ=58.90;MQ0=0;MQRankSum=-1.453;QD=11.79;ReadPosRankSum=-0.230;VQSLOD=5.4619;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,66:144:99:1728,0,1879 3 151112568 151112568 G A exonic MED12L synonymous SNV MED12L:NM_053002:exon37:c.G5628A:p.S1876S 0.3 0.37 0.22 0.28 0.2 0.38 0.2577 0.3473 0.2920 0.2915 0.2255 0.2101 0.2494 0.3653 0.26 0.35 0.21 0.32 0.25 rs3732768 COSM3759830 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2544 0.3524 0.2857 0.1476 0.2868 0.2248 0.2115 0.2282 0.3683 0.2539 0.3463 0.2297 0.1325 0.2815 0.2262 0.2107 0.2035 het 2955.62 194 3 151112568 . G A 2955.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.476;DP=194;Dels=0.00;FS=2.649;HRun=0;HaplotypeScore=4.1355;MQ=59.69;MQ0=0;MQRankSum=0.334;QD=15.24;ReadPosRankSum=-0.608;VQSLOD=5.7257;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,111:194:99:2986,0,2328 3 151154666 151154666 T C exonic IGSF10 synonymous SNV IGSF10:NM_001178145:exon2:c.A1764G:p.T588T,IGSF10:NM_001178146:exon2:c.A1620G:p.T540T,IGSF10:NM_178822:exon6:c.A7683G:p.T2561T 0.85 0.86 0.83 0.9 0.85 0.81 0.8312 0.8454 0.7299 0.8995 0.7811 0.8467 0.8234 0.8153 0.85 0.84 0.85 0.81 0.84 rs2172250 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8279 0.8443 0.7431 0.9190 0.9045 0.7781 0.8437 0.8411 0.8166 0.8392 0.8528 0.7632 0.9437 0.9244 0.7772 0.8402 0.8156 hom 2774.64 85 3 151154666 . T C 2774.64 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6498;MQ=60.00;MQ0=0;QD=32.64;VQSLOD=8.8780;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2808,241,0 3 151155620 151155620 G A exonic IGSF10 synonymous SNV IGSF10:NM_001178145:exon2:c.C810T:p.N270N,IGSF10:NM_001178146:exon2:c.C666T:p.N222N,IGSF10:NM_178822:exon6:c.C6729T:p.N2243N 0.59 0.5 0.59 0.52 0.76 0.62 0.6761 0.5302 0.4623 0.4961 0.6697 0.7659 0.6751 0.6514 0.68 0.53 0.76 0.49 0.75 rs6781302 COSM5008427 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6734 0.5301 0.4841 0.8377 0.5004 0.6746 0.7650 0.7042 0.6568 0.6723 0.5408 0.5517 0.8633 0.5248 0.6767 0.7637 0.7122 hom 5382.30 182 3 151155620 . G A 5382.30 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.713;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7396;MQ=59.30;MQ0=0;MQRankSum=-1.732;QD=29.57;ReadPosRankSum=0.780;VQSLOD=8.2323;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,181:182:99:5381,427,0 3 151165678 151165678 T C exonic IGSF10 synonymous SNV IGSF10:NM_178822:exon4:c.A2091G:p.Q697Q 0.79 0.82 0.77 0.76 0.77 0.79 0.7635 0.8166 0.6981 0.7737 0.6926 0.7641 0.7676 0.7960 0.78 0.81 0.76 0.77 0.84 rs9871952 COSM3759832 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7594 0.8141 0.7054 0.8912 0.7707 0.6906 0.7574 0.7768 0.7967 0.7590 0.8144 0.7124 0.9073 0.7798 0.6812 0.7453 0.7127 hom 3086.64 93 3 151165678 . T C 3086.64 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.19;VQSLOD=13.9170;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3120,241,0 3 151166422 151166422 C T exonic IGSF10 synonymous SNV IGSF10:NM_178822:exon4:c.G1347A:p.Q449Q 0.71 0.71 0.71 0.74 0.74 0.66 0.7092 0.7072 0.6539 0.7359 0.6834 0.7276 0.7324 0.6701 0.72 0.7 0.72 0.66 0.79 rs6798252 COSM3759833 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7071 0.7036 0.6583 0.8401 0.7308 0.6838 0.7197 0.7277 0.6733 0.7054 0.7064 0.6599 0.8245 0.7389 0.6751 0.7111 0.6653 hom 5606.69 159 3 151166422 . C T 5606.69 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;QD=35.26;VQSLOD=9.9373;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5606,448,0 3 151171439 151171439 A C exonic IGSF10 nonsynonymous SNV IGSF10:NM_178822:exon3:c.T448G:p.Y150D 0.73 0.69 0.71 0.74 0.74 0.76 0.7239 0.6944 0.6556 0.7407 0.6867 0.7348 0.7379 0.7516 0.71 0.69 0.73 0.67 0.7 rs7619322 COSM3759835 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.105 0.298 T 0.938 0.506 P 0.768 0.549 P 0.482 0.121 N 0.193 0.346 P -0.245 0.039 N 0.7 0.515 T -3.4 0.670 D 0.309 0.370 -0.915 0.463 T 0.000 0.000 T . . . 3.507 0.479 23.1 0.982 0.391 0.892 0.492 D c -0.337 -0.385 0.883 0.256 0.497 0.185 0 -2.47 0.060 2.408 0.440 1.199 0.960 1.000 0.715 0.993 0.574 0.667 0.008 Leucine-rich repeat domain\x2c L domain-like . . 0.7211 0.6878 0.6604 0.8597 0.7349 0.6859 0.7272 0.7365 0.7520 0.7063 0.6885 0.6575 0.8377 0.7426 0.6764 0.7209 0.6884 hom 3462.24 110 3 151171439 . A C 3462.24 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=59.58;MQ0=0;QD=31.47;VQSLOD=9.7622;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3462,268,0 3 151171542 151171542 A G exonic IGSF10 synonymous SNV IGSF10:NM_178822:exon3:c.T345C:p.N115N 0.81 0.89 0.78 0.76 0.77 0.81 0.7738 0.8606 0.7041 0.7787 0.6979 0.7712 0.7648 0.8138 0.8 0.86 0.77 0.81 0.57 rs7621591 COSM3722149 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7690 0.8578 0.7158 0.9107 0.7753 0.6935 0.7638 0.7784 0.8115 0.7749 0.8538 0.7302 0.9305 0.7772 0.6844 0.7521 0.7301 hom 4159.49 149 3 151171542 . A G 4159.49 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8288;MQ=59.03;MQ0=0;QD=27.92;VQSLOD=8.2332;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4159,307,0 3 151463421 151463421 G T exonic AADACL2 nonsynonymous SNV AADACL2:NM_207365:exon4:c.G556T:p.A186S 0.71 0.82 0.65 0.62 0.67 0.72 0.6726 0.8052 0.6370 0.6303 0.6604 0.6543 0.6233 0.7192 0.7 0.8 0.64 0.62 0.69 rs1972977 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.006 0.112 B 0.024 0.263 N 1 0.090 P 0.375 0.121 N 0.26 0.593 T 1.29 0.010 N 0.093 0.092 -0.886 0.493 T 0.000 0.000 T . . . -2.206 0.006 0.001 0.162 0.004 0.003 0.014 N c -1.669 -1.676 0.000 0.066 0.487 0.133 0 -3.34 0.046 0.348 0.196 -0.717 0.036 0.738 0.288 0.001 0.043 18.971 0.927 Alpha/Beta hydrolase fold|Alpha/beta hydrolase fold-3 ENSG00000240602.3|ENSG00000250271.1|ENSG00000114771.9|ENSG00000152580.8 Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis 0.6663 0.8050 0.6226 0.6899 0.6240 0.6559 0.6535 0.6454 0.7186 0.7007 0.8086 0.6734 0.7450 0.6413 0.6552 0.6594 0.6414 hom 1879.04 58 3 151463421 . G T 1879.04 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7340;MQ=59.28;MQ0=0;QD=32.40;VQSLOD=9.7358;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1912,153,0 3 151545601 151545601 G A exonic AADAC nonsynonymous SNV AADAC:NM_001086:exon5:c.G841A:p.V281I 0.73 0.77 0.75 0.58 0.77 0.8 0.7582 0.7615 0.7437 0.5826 0.6598 0.7865 0.7654 0.7832 0.78 0.76 0.79 0.7 0.84 rs1803155 COSM3759837 2(large_intestine) . . . . . . . . . . . 0.026 0.469 D 0.721 0.404 P 0.242 0.370 B 0.000 0.629 N 0.000 0.537 P 2.255 0.644 M 0.35 0.580 T -0.92 0.247 N 0.063 0.052 -1.038 0.179 T 0.000 0.000 T . . . 4.046 0.543 23.7 0.995 0.664 0.925 0.557 D c 0.145 0.180 0.999 0.390 0.554 0.246 0 3.94 0.446 2.444 0.443 0.100 0.199 1.000 0.715 0.993 0.574 12.925 0.575 Alpha/Beta hydrolase fold ENSG00000114771.9|ENSG00000114771.9 Adipose_Subcutaneous|Esophagus_Mucosa 0.7534 0.7609 0.7437 0.8156 0.5893 0.6604 0.7853 0.7758 0.7804 0.7506 0.7603 0.7560 0.8278 0.6214 0.6580 0.7777 0.7658 hom 1295.01 45 3 151545601 . G A 1295.01 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=28.78;VQSLOD=8.6428;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1328,102,0 3 153839866 153839866 G C exonic ARHGEF26 nonsynonymous SNV ARHGEF26:NM_001251962:exon2:c.G85C:p.V29L,ARHGEF26:NM_001251963:exon2:c.G85C:p.V29L,ARHGEF26:NM_015595:exon2:c.G85C:p.V29L 0.96 0.99 0.94 1. 0.87 0.98 0.9111 0.9688 0.9643 0.9992 0.8273 0.8752 0.8981 0.9702 0.9 0.96 0.87 0.94 . rs12493885 COSM4157375;COSM4157373;COSM4157372;COSM4157374 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.813 0.068 N 1 0.090 P -1.245 0.008 N 0.54 0.599 T 0.11 0.057 N 0.006 0.005 -0.975 0.361 T 0.000 0.000 T . . . 0.727 0.163 9.003 0.686 0.084 0.017 0.054 N c -1.218 -1.064 1.000 0.747 0.652 0.477 0 1.98 0.252 -0.574 0.059 -0.391 0.064 0.000 0.063 0.966 0.452 4.661 0.119 . ENSG00000114790.8|ENSG00000114790.8|ENSG00000174953.9|ENSG00000174953.9|ENSG00000174953.9|ENSG00000174953.9|ENSG00000174953.9|ENSG00000243069.3|ENSG00000174953.9|ENSG00000174953.9|ENSG00000174953.9|ENSG00000243069.3|ENSG00000114790.8|ENSG00000174953.9 Adipose_Subcutaneous|Artery_Tibial|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Spleen|Stomach|Thyroid|Thyroid|Thyroid 0.9095 0.9695 0.9602 0.9449 0.9994 0.8191 0.8702 0.9003 0.9710 0.9035 0.9664 0.9642 0.9437 0.9988 0.8138 0.8751 0.8753 hom 618.37 24 3 153839866 . G C 618.37 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7645;MQ=58.04;MQ0=0;QD=25.77;VQSLOD=5.5528;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:24:54.14:651,54,0 3 153839960 153839960 T C exonic ARHGEF26 nonsynonymous SNV ARHGEF26:NM_001251962:exon2:c.T179C:p.L60P,ARHGEF26:NM_001251963:exon2:c.T179C:p.L60P,ARHGEF26:NM_015595:exon2:c.T179C:p.L60P 0.95 0.98 0.93 0.99 0.86 0.96 0.9079 0.9685 0.9628 0.9990 0.8301 0.8704 0.8923 0.9686 0.84 0.95 0.79 0.39 . rs12497267 COSM4157377;COSM4157379;COSM4157378;COSM4157380 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.183 0.170 N 1 0.090 P -1.7 0.004 N 0.5 0.604 T 1.71 0.008 N 0.01 0.022 -0.992 0.321 T 0.000 0.000 T . . . 0.009 0.094 2.669 0.489 0.041 0.002 0.013 N c -1.401 -1.314 1.000 0.747 0.726 0.872 0 3.62 0.405 1.657 0.368 -0.419 0.060 0.009 0.180 0.000 0.016 10.265 0.424 . ENSG00000114790.8|ENSG00000114790.8|ENSG00000174953.9|ENSG00000174953.9|ENSG00000174953.9|ENSG00000174953.9|ENSG00000243069.3|ENSG00000174953.9|ENSG00000243069.3 Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Nerve_Tibial|Spleen|Thyroid 0.9083 0.9695 0.9593 0.9445 0.9994 0.8183 0.8672 0.9006 0.9705 0.9031 0.9664 0.9651 0.9433 0.9988 0.8130 0.8744 0.8763 hom 271.18 10 3 153839960 . T C 271.18 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;QD=27.12;VQSLOD=6.9446;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:304,24,0 3 154018887 154018887 G C exonic DHX36 nonsynonymous SNV DHX36:NM_001114397:exon10:c.C1247G:p.S416C,DHX36:NM_020865:exon10:c.C1247G:p.S416C 0.41 0.39 0.4 0.48 0.41 0.38 0.4018 0.3553 0.3965 0.4629 0.4319 0.4064 0.3880 0.3726 0.39 0.36 0.4 0.38 0.45 rs9438 COSM3759840;COSM3759841 1(large_intestine) . . . . . . . . . . . 0.122 0.341 T 0.007 0.550 B 0.015 0.523 B 0.000 0.843 D 0.044 0.379 P 0.915 0.234 L 2.49 0.145 T -2.37 0.522 N 0.136 0.313 -0.816 0.542 T 0.000 0.000 T . . . 4.359 0.584 24.1 0.924 0.213 0.979 0.779 D c 0.226 0.380 1.000 0.747 0.732 0.924 0 5.89 0.947 5.000 0.635 1.048 0.713 1.000 0.715 0.901 0.381 16.498 0.840 . ENSG00000174953.9 Colon_Transverse 0.4058 0.3575 0.3996 0.4442 0.4627 0.4294 0.4046 0.4160 0.3760 0.3995 0.3641 0.4462 0.39 0.4358 0.4178 0.4089 0.4093 hom 3087.82 103 3 154018887 . G C 3087.82 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=29.98;VQSLOD=7.7920;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3121,232,0 3 154146922 154146922 A G exonic GPR149 synonymous SNV GPR149:NM_001038705:exon1:c.T483C:p.S161S 0.16 0.11 0.2 0.25 0.14 0.14 0.1606 0.1172 0.2141 0.2449 0.1032 0.1537 0.1318 0.1561 0.13 0.12 0.14 0.13 0.16 rs34792862 COSM3759842 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1614 0.1111 0.2136 0.1976 0.2424 0.1068 0.1498 0.1576 0.1540 0.1333 0.1162 0.2285 0.1821 0.2234 0.1072 0.1324 0.1466 het 702.41 49 3 154146922 . A G 702.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.630;DP=49;Dels=0.00;FS=1.098;HRun=1;HaplotypeScore=0.9989;MQ=59.53;MQ0=0;MQRankSum=0.370;QD=14.33;ReadPosRankSum=0.710;VQSLOD=6.0109;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,25:49:99:732,0,612 3 155241740 155241740 A G exonic PLCH1 synonymous SNV PLCH1:NM_001130960:exon10:c.T1380C:p.S460S,PLCH1:NM_001130961:exon10:c.T1380C:p.S460S,PLCH1:NM_001349250:exon10:c.T1380C:p.S460S,PLCH1:NM_014996:exon10:c.T1416C:p.S472S,PLCH1:NM_001349251:exon11:c.T1416C:p.S472S,PLCH1:NM_001349252:exon11:c.T1416C:p.S472S 0.77 0.69 0.78 0.93 0.7 0.79 0.7457 0.7096 0.7999 0.9475 0.7220 0.7147 0.7346 0.7600 0.72 0.71 0.73 0.78 0.69 rs9840234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7488 0.7077 0.7897 0.6825 0.9474 0.7246 0.7196 0.7505 0.7599 0.7268 0.7143 0.7614 0.6921 0.9468 0.7265 0.7104 0.7071 het 2720.79 248 3 155241740 . A G 2720.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.585;DP=248;DS;Dels=0.00;FS=0.465;HRun=1;HaplotypeScore=5.4166;MQ=59.26;MQ0=0;MQRankSum=-0.117;QD=10.97;ReadPosRankSum=-1.303;VQSLOD=5.1340;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,112:248:99:2751,0,3528 3 155314034 155314034 A G exonic PLCH1 synonymous SNV PLCH1:NM_001130960:exon2:c.T177C:p.S59S,PLCH1:NM_001130961:exon2:c.T177C:p.S59S,PLCH1:NM_001349250:exon2:c.T177C:p.S59S,PLCH1:NM_014996:exon2:c.T213C:p.S71S,PLCH1:NM_001349251:exon3:c.T213C:p.S71S,PLCH1:NM_001349252:exon3:c.T213C:p.S71S 0.46 0.4 0.55 0.28 0.74 0.37 0.6051 0.4583 0.5421 0.2904 0.6969 0.7084 0.6421 0.4505 0.63 0.47 0.72 0.39 0.66 rs359569 COSM1130306 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6120 0.4569 0.5555 0.7358 0.2907 0.6937 0.7141 0.6757 0.4491 0.6159 0.4670 0.5752 0.7517 0.2824 0.6921 0.7174 0.6605 het 2625.80 212 3 155314034 . A G 2625.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.647;DP=212;DS;Dels=0.00;FS=0.526;HRun=0;HaplotypeScore=8.7507;MQ=59.30;MQ0=0;MQRankSum=1.572;QD=12.39;ReadPosRankSum=0.370;VQSLOD=4.4834;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,96:212:99:2656,0,3060 3 155481609 155481609 G A exonic C3orf33 synonymous SNV C3orf33:NM_001308229:exon5:c.C582T:p.Y194Y,C3orf33:NM_173657:exon6:c.C453T:p.Y151Y 0.47 0.51 0.48 0.32 0.64 0.39 0.5840 0.5502 0.5227 0.3681 0.6465 0.6491 0.5939 0.4612 0.6 0.53 0.63 0.43 . rs7653384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5612 0.5346 0.4939 0.7032 0.3363 0.6223 0.6232 0.5985 0.4322 0.5833 0.5254 0.5012 0.7053 0.3143 0.6260 0.6362 0.6117 hom 672.80 25 3 155481609 . G A 672.80 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.49;MQ0=0;QD=26.91;VQSLOD=7.8996;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:54.17:706,54,0 3 155485302 155485302 C T exonic C3orf33 nonsynonymous SNV C3orf33:NM_001308229:exon4:c.G479A:p.S160N,C3orf33:NM_173657:exon5:c.G350A:p.S117N 0.84 0.83 0.85 0.91 0.77 0.84 0.8240 0.8291 0.8901 0.9145 0.8108 0.7980 0.7993 0.8385 0.79 0.83 0.78 0.88 . rs358733 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.353 N 1 0.090 P -2.24 0.001 N 2.01 0.213 T 1.08 0.014 N 0.011 0.001 -0.985 0.340 T 0.000 0.000 T . . . 0.947 0.184 10.35 0.165 0.004 0.026 0.070 N c -0.917 -0.637 0.103 0.165 0.615 0.372 0 4.05 0.462 3.201 0.505 0.119 0.209 1.000 0.715 0.996 0.625 7.139 0.246 Staphylococcal nuclease (SNase-like)\x2c OB-fold ENSG00000174928.11 Cells_Transformed_fibroblasts 0.8187 0.8302 0.8898 0.8498 0.9123 0.7987 0.7829 0.8146 0.8320 0.8066 0.8146 0.8759 0.8444 0.9100 0.8020 0.7859 0.8258 hom 508.68 17 3 155485302 . C T 508.68 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.92;VQSLOD=13.5408;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:42.13:542,42,0 3 156413682 156413682 A C exonic TIPARP nonsynonymous SNV TIPARP:NM_001184717:exon4:c.A1115C:p.N372T,TIPARP:NM_001184718:exon4:c.A1115C:p.N372T,TIPARP:NM_015508:exon4:c.A1115C:p.N372T 0.001 . 0.0058 0.001 . . 0.0005 0.0003 0.0004 0.0003 0 0.0008 0 0 0.0012 . 0.0017 . . rs143409745 . . . . . . . . . . . . . 0.545 0.067 T 0.031 0.188 B 0.006 0.112 B 0.000 0.559 D 0.989 0.408 D 1.39 0.351 L 1.58 0.291 T 0.49 0.043 N 0.083 0.109 -1.092 0.052 T 0.061 0.253 T 0.007 0.180 T 0.849 0.175 9.763 0.964 0.292 0.846 0.434 D c -0.108 -0.004 1.000 0.439 0.707 0.730 0 2.75 0.313 1.844 0.387 1.028 0.649 1.000 0.715 0.998 0.697 9.706 0.392 WWE domain . . 0.0006 0.0004 0.0004 0 0.0003 0 0.0010 0.0002 0 0.0005 0 0.0015 0 0.0006 0 0.0010 0 het 724.85 60 3 156413682 . A C 724.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.811;DP=60;Dels=0.00;FS=1.028;HRun=1;HaplotypeScore=0.0000;MQ=57.31;MQ0=0;MQRankSum=0.651;QD=12.08;ReadPosRankSum=-0.104;VQSLOD=3.2027;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,29:60:99:755,0,799 3 157155314 157155314 C A exonic PTX3 nonsynonymous SNV PTX3:NM_002852:exon2:c.C143A:p.A48D 0.71 0.74 0.72 0.76 0.6 0.75 0.6566 0.7332 0.7194 0.7911 0.6674 0.6007 0.6011 0.7117 0.63 0.74 0.58 0.66 0.53 rs3816527 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.411 0.130 N 0.000 0.810 P -2.67 0.000 N 3.26 0.067 T 1.91 0.005 N 0.043 0.023 -0.988 0.330 T 0.000 0.000 T . . . 1.381 0.229 12.69 0.822 0.136 0.152 0.186 N c -1.061 -0.797 1.000 0.747 0.447 0.083 0 3.48 0.388 1.860 0.388 -0.796 0.032 1.000 0.715 0.227 0.223 11.441 0.492 . . . 0.6358 0.7254 0.7033 0.5259 0.7854 0.6351 0.5735 0.6007 0.6982 0.6520 0.7379 0.7002 0.5596 0.7794 0.6350 0.5935 0.6178 hom 1187.26 42 3 157155314 . C A 1187.26 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.27;VQSLOD=12.7043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:96.30:1220,96,0 3 158320597 158320597 T C exonic MLF1 synonymous SNV MLF1:NM_001130156:exon6:c.T495C:p.S165S,MLF1:NM_001195433:exon6:c.T366C:p.S122S,MLF1:NM_022443:exon6:c.T570C:p.S190S,MLF1:NM_001130157:exon7:c.T495C:p.S165S,MLF1:NM_001195432:exon8:c.T663C:p.S221S,MLF1:NM_001195434:exon8:c.T540C:p.S180S 0.58 0.76 0.53 0.38 0.54 0.6 0.5453 0.7174 0.5726 0.3254 0.5103 0.5335 0.5532 0.5937 0.6 0.71 0.54 0.53 0.49 rs4875 COSM4002503;COSM4002504 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5404 0.7227 0.5686 0.5207 0.3224 0.5147 0.5338 0.5259 0.5925 0.5732 0.7265 0.5442 0.5464 0.3068 0.5278 0.5294 0.5133 hom 1286.57 45 3 158320597 . T C 1286.57 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.59;VQSLOD=14.0351;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1320,102,0 3 158366900 158366900 G A exonic GFM1 nonsynonymous SNV GFM1:NM_001308164:exon5:c.G643A:p.V215I,GFM1:NM_001308166:exon5:c.G643A:p.V215I,GFM1:NM_024996:exon5:c.G643A:p.V215I 0.58 0.77 0.53 0.38 0.54 0.61 0.5467 0.7238 0.5708 0.3250 0.5109 0.5329 0.5540 0.6047 0.6 0.71 0.54 0.54 0.52 rs2303909 COSM4002505 1(haematopoietic_and_lymphoid_tissue);1(kidney) Benign Combined_oxidative_phosphorylation_deficiency RCV000334159.1 MedGen:Orphanet CN201731:ORPHA2443 . . . . . . 0.45 0.106 T 0.002 0.126 B 0.013 0.267 B 0.000 0.843 N 0.999 0.214 P 0.22 0.096 N -0.77 0.735 T -0.45 0.148 N 0.032 0.064 -0.935 0.434 T 0.000 0.000 T . . . 1.586 0.252 13.77 0.908 0.195 0.252 0.224 N c -0.679 -0.485 0.966 0.288 0.732 0.924 0 3.69 0.413 3.300 0.513 0.244 0.267 1.000 0.715 0.989 0.536 9.723 0.393 P-loop containing nucleoside triphosphate hydrolase|Small GTP-binding protein domain|Transcription factor\x2c GTP-binding domain ENSG00000118855.14|ENSG00000168827.10|ENSG00000272087.1|ENSG00000168827.10|ENSG00000243150.1|ENSG00000178053.13|ENSG00000168827.10|ENSG00000272087.1|ENSG00000079257.3|ENSG00000168827.10|ENSG00000178053.13|ENSG00000168827.10|ENSG00000079257.3|ENSG00000178053.13|ENSG00000168827.10|ENSG00000178053.13|ENSG00000079257.3|ENSG00000178053.13|ENSG00000168827.10|ENSG00000168827.10|ENSG00000079257.3|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.5423 0.7285 0.5671 0.5214 0.3242 0.5149 0.5342 0.5279 0.6036 0.5756 0.7330 0.5408 0.5497 0.3094 0.5284 0.5298 0.5174 hom 4034.49 144 3 158366900 . G A 4034.49 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7552;MQ=59.58;MQ0=0;QD=28.02;VQSLOD=7.9431;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4034,307,0 3 158388780 158388780 T C exonic LXN nonsynonymous SNV LXN:NM_020169:exon2:c.A158G:p.H53R 0.58 0.75 0.53 0.38 0.54 0.61 0.5447 0.7115 0.5707 0.3253 0.5111 0.5325 0.5564 0.6051 0.59 0.7 0.54 0.53 0.36 rs8455 COSM4002506 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.418 0.099 T 0.001 0.067 B 0.001 0.040 B 0.445 0.126 N 0.000 0.588 P 0.665 0.163 N 1.9 0.235 T -1.92 0.446 N 0.03 0.011 -0.999 0.301 T 0.000 0.000 T . . . 0.236 0.117 5.050 0.854 0.153 0.386 0.258 N c -1.086 -0.974 1.000 0.420 0.722 0.854 0 -2.53 0.059 0.154 0.160 -1.455 0.011 0.889 0.309 0.853 0.356 12.057 0.527 . ENSG00000118855.14|ENSG00000168827.10|ENSG00000079257.3|ENSG00000272087.1|ENSG00000168827.10|ENSG00000243150.1|ENSG00000178053.13|ENSG00000168827.10|ENSG00000272087.1|ENSG00000079257.3|ENSG00000168827.10|ENSG00000178053.13|ENSG00000168827.10|ENSG00000079257.3|ENSG00000178053.13|ENSG00000168827.10|ENSG00000178053.13|ENSG00000079257.3|ENSG00000178053.13|ENSG00000168827.10|ENSG00000168827.10|ENSG00000079257.3|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.5152 0.6911 0.5174 0.4848 0.2911 0.5083 0.5150 0.4889 0.5761 0.5722 0.7217 0.5418 0.5497 0.3072 0.5281 0.5300 0.5143 hom 2544.91 88 3 158388780 . T C 2544.91 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.157;DP=88;Dels=0.00;FS=3.612;HRun=0;HaplotypeScore=1.9874;MQ=53.72;MQ0=0;MQRankSum=1.575;QD=28.92;ReadPosRankSum=-0.630;VQSLOD=3.8723;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,87:88:99:2578,180,0 3 158537443 158537443 A G exonic MFSD1 nonsynonymous SNV MFSD1:NM_001167903:exon7:c.A688G:p.I230V,MFSD1:NM_001289406:exon7:c.A367G:p.I123V,MFSD1:NM_001289407:exon8:c.A439G:p.I147V,MFSD1:NM_022736:exon8:c.A805G:p.I269V 0.56 0.72 0.53 0.37 0.61 0.5 0.5606 0.6751 0.5700 0.3829 0.5109 0.5787 0.5944 0.5221 0.6 0.67 0.56 0.5 0.47 rs3765083 COSM3759848;COSM3759847 4(thyroid);1(large_intestine) . . . . . . . . . . . 0.666 0.046 T 0.0 0.067 B 0.004 0.093 B 0.001 0.389 N 0.988 0.244 P 0.575 0.154 N 0.36 0.808 T -0.15 0.098 N 0.027 0.196 -0.955 0.401 T 0.000 0.000 T . . . -0.083 0.086 1.858 0.594 0.061 0.050 0.107 N c -1.114 -1.096 1.000 0.424 0.732 0.924 0 -2.1 0.068 -0.124 0.105 1.140 0.893 0.001 0.137 0.545 0.279 6.853 0.231 Major facilitator superfamily domain ENSG00000272247.1|ENSG00000118855.14|ENSG00000272247.1|ENSG00000272247.1|ENSG00000272247.1|ENSG00000118855.14|ENSG00000272247.1|ENSG00000178053.13|ENSG00000079257.3|ENSG00000272247.1|ENSG00000118855.14|ENSG00000272247.1|ENSG00000272247.1|ENSG00000272247.1|ENSG00000272247.1|ENSG00000272247.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5613 0.6745 0.5762 0.6129 0.3706 0.5274 0.5787 0.5937 0.5284 0.5939 0.6857 0.5916 0.5772 0.3820 0.5374 0.5769 0.5611 hom 1543.10 48 3 158537443 . A G 1543.10 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.28;MQ0=0;QD=32.15;VQSLOD=7.7915;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1576,135,0 3 160131347 160131347 A G exonic SMC4 nonsynonymous SNV SMC4:NM_005496:exon7:c.A1067G:p.N356S,SMC4:NM_001002800:exon8:c.A1067G:p.N356S,SMC4:NM_001288753:exon8:c.A992G:p.N331S 0.04 0.016 0.025 0.043 0.075 0.045 0.0553 0.0235 0.0186 0.0476 0.1356 0.0610 0.0659 0.0485 0.039 0.019 0.049 0.065 0.057 rs33999879 . . . . . . . . . . . . . 0.763 0.048 T 0.0 0.026 B 0.001 0.063 B 0.435 0.127 N 1.000 0.090 N -1.14 0.009 N -0.75 0.733 T -0.7 0.212 N 0.002 0.006 -1.082 0.070 T 0.011 0.041 T . . . -1.677 0.013 0.002 0.735 0.100 0.177 0.197 N c -1.412 -1.310 1.000 0.747 0.744 0.983 0 -4.47 0.033 -0.063 0.115 -0.548 0.048 0.715 0.285 0.897 0.379 16.313 0.827 P-loop containing nucleoside triphosphate hydrolase;RecF/RecN/SMC\x2c N-terminal ENSG00000113810.11 Artery_Aorta 0.0530 0.0205 0.0227 0.0458 0.0443 0.1272 0.0522 0.0564 0.0459 0.0522 0.0218 0.0298 0.0530 0.0476 0.1347 0.0532 0.0449 het 405.06 46 3 160131347 . A G 405.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.18;MQ0=0;MQRankSum=-1.807;QD=8.81;ReadPosRankSum=1.227;VQSLOD=4.6234;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,19:46:99:435,0,830 3 161221705 161221705 A C exonic OTOL1 nonsynonymous SNV OTOL1:NM_001080440:exon4:c.A1409C:p.E470A 0.49 0.65 0.42 0.27 0.47 0.59 0.4824 0.6028 0.4304 0.2771 0.4876 0.4730 0.4713 0.5916 0.51 0.6 0.47 0.66 . rs3921595 COSM3759853 2(haematopoietic_and_lymphoid_tissue);2(pancreas);1(large_intestine) . . . . . . . . . . . 0.014 0.531 D 0.979 0.571 D 0.628 0.498 P 0.000 0.629 D 0.902 0.277 P 1.425 0.359 L -2.75 0.908 D -2.28 0.508 N 0.167 0.202 -0.934 0.436 T 0.000 0.000 T . . . 4.980 0.670 25.1 0.989 0.483 0.970 0.722 D c 0.249 0.221 0.000 0.069 0.487 0.133 0 2.86 0.323 5.798 0.685 1.199 0.960 1.000 0.715 0.919 0.394 8.76 0.336 C1q domain|Tumour necrosis factor-like domain . . 0.4697 0.6023 0.4182 0.4007 0.2781 0.4775 0.4709 0.4705 0.5805 0.5042 0.5940 0.4062 0.44 0.3098 0.4862 0.4871 0.4541 het 358.23 41 3 161221705 . A C 358.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.808;DP=41;Dels=0.00;FS=3.491;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=-0.174;QD=8.74;ReadPosRankSum=-0.628;VQSLOD=6.0807;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,16:41:99:388,0,665 3 164714532 164714532 C T exonic SI nonsynonymous SNV SI:NM_001041:exon39:c.G4569A:p.M1523I 0.91 0.93 0.84 0.94 0.93 0.88 0.9106 0.9049 0.8101 0.9189 0.9466 0.9313 0.9188 0.9017 0.92 0.91 0.93 0.96 0.37 rs4855271 . . Benign Sucrase-isomaltase_deficiency RCV000394925.1 MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT C1283620:222900:ORPHA35122:360854006:78373000 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.090 P -1.525 0.005 N -2.54 0.895 D 2.25 0.003 N 0.053 0.035 -0.926 0.447 T 0.000 0.000 T . . . 0.419 0.134 6.775 0.556 0.053 0.031 0.079 N c -1.833 -1.712 0.000 0.069 0.487 0.133 0 -6.92 0.015 -1.364 0.027 -0.949 0.024 0.004 0.165 0.984 0.507 3.369 0.067 Glycoside hydrolase superfamily . . 0.9088 0.9085 0.8218 0.9307 0.9212 0.9453 0.9295 0.9137 0.9003 0.9300 0.9180 0.8454 0.9106 0.9197 0.9443 0.9395 0.9343 hom 284.28 11 3 164714532 . C T 284.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.423;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=57.87;MQ0=0;MQRankSum=1.107;QD=25.84;ReadPosRankSum=-0.158;VQSLOD=6.1057;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,10:11:27.08:317,27,0 3 164764719 164764719 C A exonic SI synonymous SNV SI:NM_001041:exon16:c.G1797T:p.A599A 0.61 0.47 0.62 0.83 0.63 0.54 0.6098 0.4823 0.6593 0.8189 0.6615 0.6080 0.6410 0.5322 0.56 0.48 0.6 0.63 0.6 rs9838509 COSM1130299 1(prostate) Benign Sucrase-isomaltase_deficiency RCV000341616.1 MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT C1283620:222900:ORPHA35122:360854006:78373000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6159 0.4818 0.6561 0.6159 0.8144 0.6674 0.6036 0.6175 0.5344 0.5832 0.4769 0.6340 0.6167 0.805 0.6562 0.5996 0.6022 hom 4021.84 129 3 164764719 . C A 4021.84 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=58.72;MQ0=0;QD=31.18;VQSLOD=9.0411;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4021,304,0 3 164773057 164773057 G A exonic SI synonymous SNV SI:NM_001041:exon13:c.C1437T:p.N479N 0.62 0.47 0.62 0.83 0.63 0.58 0.6138 0.4866 0.6565 0.8209 0.6621 0.6088 0.6380 0.5552 0.56 0.49 0.6 0.61 0.59 rs9290257 COSM4002508 1(haematopoietic_and_lymphoid_tissue) Benign Sucrase-isomaltase_deficiency RCV000277006.1 MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT C1283620:222900:ORPHA35122:360854006:78373000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6198 0.4885 0.6556 0.6238 0.8176 0.6671 0.6043 0.6170 0.5566 0.5854 0.4809 0.6410 0.6291 0.8102 0.6566 0.6002 0.6061 hom 5689.46 204 3 164773057 . G A 5689.46 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=59.70;MQ0=0;QD=27.89;VQSLOD=7.1185;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,204:204:99:5689,427,0 3 164783165 164783165 T C exonic SI nonsynonymous SNV SI:NM_001041:exon7:c.A691G:p.T231A 0.62 0.46 0.62 0.83 0.63 0.58 0.6135 0.4765 0.6569 0.8220 0.6625 0.6098 0.6380 0.5558 0.56 0.48 0.6 0.23 0.54 rs9283633 COSM5653989;COSM5001138 1(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign Sucrase-isomaltase_deficiency RCV000405177.1 MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT C1283620:222900:ORPHA35122:360854006:78373000 . . . . . . 0.15 0.246 T 0.004 0.112 B 0.008 0.127 B 0.001 0.425 N 0.906 0.276 P 2.135 0.597 M -2.23 0.871 D -1.03 0.270 N 0.028 0.009 -0.963 0.387 T 0.000 0.000 T . . . 0.170 0.110 4.361 0.959 0.275 0.649 0.323 D c -0.486 -0.431 0.000 0.012 0.487 0.133 0 1.05 0.192 1.283 0.326 0.100 0.199 0.966 0.337 0.898 0.379 8.956 0.348 Galactose mutarotase\x2c N-terminal barrel|Galactose mutarotase-like domain . . 0.6193 0.4775 0.6551 0.6240 0.8185 0.6679 0.6047 0.6175 0.5564 0.5651 0.4615 0.6142 0.6154 0.7972 0.6360 0.5825 0.5863 hom 1739.43 58 3 164783165 . T C 1739.43 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=29.99;VQSLOD=9.0927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1772,132,0 3 167000256 167000256 G C exonic ZBBX nonsynonymous SNV ZBBX:NM_001199202:exon19:c.C1820G:p.A607G,ZBBX:NM_024687:exon19:c.C1907G:p.A636G,ZBBX:NM_001199201:exon20:c.C2024G:p.A675G . . . . . . 0.3471 0.2756 0.4343 0.6366 0.2834 0.3070 0.3761 0.3623 0.29 0.27 0.3 0.42 0.13 rs12638625 . . . . . . . . . . . . . 0.053 0.388 T 0.221 0.286 B 0.161 0.331 B 0.508 0.119 N 1.000 0.205 P 1.32 0.331 L 2.68 0.143 T -1.59 0.383 N 0.144 0.169 -1.024 0.225 T 0.000 0.000 T . . . 1.404 0.232 12.81 0.903 0.190 0.785 0.384 D c -0.718 -0.678 0.000 0.012 0.554 0.246 0 1.47 0.217 0.641 0.242 -0.248 0.090 0.992 0.373 0.394 0.253 4.429 0.109 . . . 0.3532 0.2768 0.4291 0.3761 0.6369 0.2841 0.3055 0.3616 0.3637 0.3113 0.2721 0.4427 0.3907 0.6532 0.2784 0.2970 0.2963 het 1622.03 114 3 167000256 . G C 1622.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.634;DP=114;Dels=0.00;FS=1.647;HRun=1;HaplotypeScore=0.9665;MQ=59.14;MQ0=0;MQRankSum=2.170;QD=14.23;ReadPosRankSum=0.498;VQSLOD=5.7069;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,62:114:99:1652,0,1404 3 167051726 167051726 A G exonic ZBBX synonymous SNV ZBBX:NM_001199201:exon10:c.T576C:p.F192F,ZBBX:NM_001199202:exon10:c.T489C:p.F163F,ZBBX:NM_024687:exon10:c.T576C:p.F192F 0.46 0.46 0.44 0.66 0.34 0.39 0.3812 0.4336 0.4577 0.6599 0.3241 0.3338 0.4096 0.3640 0.36 0.43 0.33 0.5 0.28 rs10936530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3851 0.4357 0.4516 0.3738 0.6593 0.3245 0.3349 0.3933 0.3644 0.3785 0.4274 0.4676 0.3907 0.6683 0.3173 0.3303 0.3439 het 836.71 73 3 167051726 . A G 836.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.018;DP=73;Dels=0.00;FS=0.897;HRun=0;HaplotypeScore=0.9734;MQ=59.74;MQ0=0;MQRankSum=-0.217;QD=11.46;ReadPosRankSum=-2.618;VQSLOD=5.5338;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,32:73:99:867,0,1048 3 167077691 167077691 T A exonic ZBBX synonymous SNV ZBBX:NM_001199201:exon8:c.A399T:p.V133V,ZBBX:NM_001199202:exon8:c.A312T:p.V104V,ZBBX:NM_024687:exon8:c.A399T:p.V133V 1. 1. 1. 1. 1. 1. 0.9971 0.9993 0.9990 1 0.9968 0.9955 0.9989 0.9996 1. 1. 0.99 0.95 0.93 rs4257551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9969 0.9993 0.9987 0.9997 1 0.9963 0.9949 0.9971 0.9995 0.9959 0.9990 0.9988 1 1 0.9968 0.9929 0.9990 hom 1663.93 58 3 167077691 . T A 1663.93 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.69;VQSLOD=12.7033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1697,126,0 3 167164187 167164187 A G exonic SERPINI2 synonymous SNV SERPINI2:NM_006217:exon8:c.T1134C:p.N378N,SERPINI2:NM_001012303:exon9:c.T1164C:p.N388N 0.24 0.43 0.23 0.29 0.092 0.076 0.1499 0.3956 0.2769 0.2778 0.0939 0.0955 0.1503 0.0795 0.2 0.39 0.096 0.26 0.016 rs2272138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1483 0.3997 0.2556 0.1229 0.2840 0.1032 0.0904 0.1388 0.0812 0.1952 0.3987 0.2196 0.1026 0.2871 0.1125 0.0911 0.1258 hom 2889.96 96 3 167164187 . A G 2889.96 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8910;MQ=58.99;MQ0=0;QD=30.10;VQSLOD=9.2877;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2923,223,0 3 167167186 167167186 T A exonic SERPINI2 synonymous SNV SERPINI2:NM_006217:exon7:c.A969T:p.S323S,SERPINI2:NM_001012303:exon8:c.A999T:p.S333S 0.37 0.3 0.38 0.39 0.41 0.4 0.3955 0.3165 0.3789 0.3859 0.4948 0.4024 0.4208 0.3930 0.36 0.31 0.39 0.29 0.21 rs6770577 COSM3759861 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3892 0.3078 0.3658 0.3641 0.3856 0.4976 0.3886 0.3914 0.3901 0.3800 0.3096 0.3429 0.3344 0.3936 0.5136 0.3883 0.4281 hom 894.40 27 3 167167186 . T A 894.40 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.37;MQ0=0;QD=33.13;VQSLOD=8.6026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:72.22:927,72,0 3 167184878 167184878 T C exonic SERPINI2 nonsynonymous SNV SERPINI2:NM_006217:exon3:c.A443G:p.E148G,SERPINI2:NM_001012303:exon4:c.A473G:p.E158G 0.41 0.37 0.38 0.51 0.4 0.4 0.3971 0.3676 0.3727 0.4869 0.4908 0.3862 0.4174 0.3905 0.37 0.37 0.38 0.37 0.24 rs9841174 COSM3759862 1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.097 0.309 T 0.722 0.404 P 0.438 0.438 B 0.037 0.244 N 0.996 0.231 P 1.63 0.419 L -1.89 0.846 D -2.85 0.706 D 0.06 0.323 -0.999 0.303 T 0.000 0.000 T . . . 3.142 0.437 22.6 0.998 0.918 0.863 0.453 D c -0.099 -0.064 0.005 0.107 0.487 0.133 0 3.34 0.372 2.204 0.422 -0.670 0.040 1.000 0.715 0.072 0.177 10.059 0.412 Serpin domain . . 0.3960 0.3608 0.3658 0.3637 0.4903 0.4974 0.3787 0.3959 0.3934 0.3949 0.3625 0.3377 0.3311 0.5056 0.5112 0.3773 0.4256 hom 1386.75 45 3 167184878 . T C 1386.75 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.05;MQ0=0;QD=30.82;VQSLOD=8.3765;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1420,111,0 3 167217960 167217960 C T exonic WDR49 synonymous SNV WDR49:NM_001348951:exon18:c.G2979A:p.E993E,WDR49:NM_001348952:exon18:c.G2979A:p.E993E 0.19 0.18 0.22 0.38 0.091 0.065 0.1313 0.1664 0.2632 0.3637 0.0926 0.0900 0.1317 0.0730 0.11 0.16 0.09 0.22 0.016 rs13061106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1261 0.1647 0.2394 0.0993 0.3625 0.1015 0.0851 0.1203 0.0708 0.1282 0.1610 0.1962 0.0894 0.3605 0.1091 0.0873 0.1061 hom 3484.91 113 3 167217960 . C T 3484.91 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.18;MQ0=0;QD=30.84;VQSLOD=8.6869;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3485,268,0 3 167217964 167217964 A G exonic WDR49 nonsynonymous SNV WDR49:NM_001348951:exon18:c.T2975C:p.L992P,WDR49:NM_001348952:exon18:c.T2975C:p.L992P 0.36 0.26 0.34 0.48 0.35 0.39 0.3591 0.2685 0.3564 0.4596 0.4041 0.3508 0.3786 0.3791 0.32 0.27 0.35 0.36 0.17 rs13060964 COSM3759865;COSM3759864 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.057 0.408 T 0.0 0.026 B 0.0 0.013 B 0.059 0.223 N 1 0.090 P -1.04 0.011 N 0.67 0.522 T 2.49 0.002 N 0.058 0.446 -0.923 0.452 T 0.000 0.000 T . . . 0.339 0.127 6.066 0.640 0.072 0.001 0.007 N c -0.902 -0.856 0.000 0.012 0.487 0.133 0 3.29 0.366 1.633 0.365 0.091 0.195 0.478 0.266 0.029 0.146 6.749 0.225 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000114204.10 Brain_Cerebellum 0.3569 0.2610 0.3454 0.3250 0.4594 0.4073 0.3451 0.3607 0.3769 0.3371 0.2657 0.3074 0.3046 0.4625 0.4231 0.3452 0.3676 hom 3534.28 121 3 167217964 . A G 3534.28 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9874;MQ=58.36;MQ0=0;QD=29.21;VQSLOD=7.7272;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3533,292,0 3 167506937 167506937 C G exonic SERPINI1 nonsynonymous SNV SERPINI1:NM_001122752:exon2:c.C21G:p.F7L,SERPINI1:NM_005025:exon2:c.C21G:p.F7L 0.11 0.21 0.15 0.052 0.1 0.041 0.0979 0.2081 0.1633 0.0568 0.1370 0.0857 0.0960 0.0380 0.13 0.2 0.088 0.14 0.11 rs33917740 COSM3736311 1(skin) Benign Encephalopathy\x2c_familial\x2c_with_neuroserpin_inclusion_bodies RCV000326135.1 MedGen:OMIM:Orphanet C1858680:604218:ORPHA85110 . . . . . . 0.652 0.114 T 0.0 0.026 B 0.0 0.013 B 0.000 0.457 N 1.000 0.209 P -1.26 0.008 N -0.98 0.831 T 0.17 0.119 N 0.049 0.363 -1.060 0.117 T 0.000 0.001 T . . . 0.644 0.155 8.458 0.539 0.049 0.698 0.340 D c -0.861 -0.663 0.001 0.081 0.706 0.609 0 1.81 0.240 1.481 0.349 0.077 0.185 1.000 0.715 0.461 0.264 10.490 0.437 . . . 0.0994 0.2130 0.1514 0.0583 0.0582 0.1378 0.0873 0.1050 0.0378 0.1288 0.2054 0.1376 0.0828 0.0617 0.1359 0.0914 0.1104 het 1363.80 107 3 167506937 . C G 1363.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.484;DP=107;Dels=0.00;FS=7.776;HRun=0;HaplotypeScore=1.5592;MQ=58.56;MQ0=0;MQRankSum=0.452;QD=12.75;ReadPosRankSum=1.088;VQSLOD=4.2419;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,52:107:99:1394,0,1436 3 167506967 167506967 A G exonic SERPINI1 synonymous SNV SERPINI1:NM_001122752:exon2:c.A51G:p.T17T,SERPINI1:NM_005025:exon2:c.A51G:p.T17T 0.11 0.21 0.15 0.052 0.1 0.041 0.0980 0.2081 0.1638 0.0569 0.1371 0.0857 0.0958 0.0380 0.13 0.2 0.088 0.14 0.11 rs34582040 COSM4416354 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Encephalopathy\x2c_familial\x2c_with_neuroserpin_inclusion_bodies RCV000286297.1 MedGen:OMIM:Orphanet C1858680:604218:ORPHA85110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0996 0.2130 0.1516 0.0583 0.0585 0.1385 0.0873 0.1052 0.0378 0.1288 0.2055 0.1376 0.0828 0.0617 0.1359 0.0915 0.1104 het 1263.65 117 3 167506967 . A G 1263.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.909;DP=117;Dels=0.00;FS=1.530;HRun=4;HaplotypeScore=5.4891;MQ=58.92;MQ0=0;MQRankSum=1.636;QD=10.80;ReadPosRankSum=-0.401;VQSLOD=4.8583;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,55:117:99:1294,0,1691 3 167510472 167510472 G A exonic SERPINI1 synonymous SNV SERPINI1:NM_001122752:exon4:c.G576A:p.S192S,SERPINI1:NM_005025:exon4:c.G576A:p.S192S 0.12 0.21 0.15 0.053 0.1 0.042 0.0985 0.2088 0.1640 0.0574 0.1372 0.0857 0.0969 0.0412 0.13 0.2 0.088 0.14 0.12 rs2229697 COSM4419303 1(haematopoietic_and_lymphoid_tissue) Benign Encephalopathy\x2c_familial\x2c_with_neuroserpin_inclusion_bodies RCV000395296.1 MedGen:OMIM:Orphanet C1858680:604218:ORPHA85110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1001 0.2134 0.1516 0.0584 0.0586 0.1389 0.0873 0.1053 0.0414 0.1289 0.2052 0.1400 0.0828 0.0624 0.1358 0.0916 0.1102 het 962.75 110 3 167510472 . G A 962.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.065;DP=110;Dels=0.00;FS=1.559;HRun=0;HaplotypeScore=2.8251;MQ=58.71;MQ0=0;MQRankSum=1.657;QD=8.75;ReadPosRankSum=-0.546;VQSLOD=5.9035;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,44:110:99:993,0,1793 3 169098992 169098992 G A exonic MECOM nonsynonymous SNV MECOM:NM_004991:exon2:c.C358T:p.P120S 0.15 0.14 0.33 0.16 0.12 0.076 0.1333 0.1300 0.3274 0.1634 0.1044 0.1121 0.1111 0.0784 0.12 0.13 0.11 0.16 . rs7622799 COSM149513 1(stomach);6(soft_tissue) . . . . . . . . . . . 0.442 0.092 T 0.275 0.302 B 0.096 0.288 B 0.001 0.428 N 0.987 0.245 P 0.895 0.225 L -0.59 0.716 T 0.36 0.037 N 0.048 0.029 -1.081 0.071 T 0.000 0.000 T . . . 0.279 0.121 5.485 0.320 0.018 0.891 0.491 D c -0.282 -0.128 0.008 0.115 0.707 0.730 0 4.52 0.546 2.564 0.453 0.154 0.240 1.000 0.715 0.306 0.238 13.237 0.592 SET domain . . 0.1386 0.1319 0.3167 0.0541 0.1664 0.1021 0.1146 0.1308 0.0734 0.1260 0.1282 0.2792 0.0364 0.1631 0.0959 0.1216 0.1181 het 874.01 73 3 169098992 . G A 874.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.804;DP=73;Dels=0.00;FS=0.939;HRun=0;HaplotypeScore=0.0000;MQ=58.53;MQ0=0;MQRankSum=0.138;QD=11.97;ReadPosRankSum=0.370;VQSLOD=5.9320;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,38:73:99:904,0,1005 3 169099171 169099171 T G exonic MECOM nonsynonymous SNV MECOM:NM_004991:exon2:c.A179C:p.E60A . . . . . . 6.631e-05 0 0 0 0 0.0001 0 0 0.0002 . 0.0002 . . rs369826375 . . . . . . . . . . . . . 0.002 0.721 D 0.99 0.615 D 0.766 0.548 P 0.002 0.371 N 0.842 0.286 N 1.865 0.494 L 0.81 0.485 T -1.74 0.808 N 0.307 0.546 -0.686 0.611 T 0.215 0.577 T 0.032 0.542 D 2.247 0.331 17.82 0.995 0.695 0.995 0.964 D c 0.131 0.169 0.592 0.216 0.707 0.730 0 4.77 0.603 7.347 0.784 0.148 0.236 1.000 0.715 0.985 0.512 11.905 0.518 . . . 4.883e-05 0 0 0 0 0 0.0001 0 0 6.46e-05 0 0 0 0 0 0.0001 0 het 1033.84 85 3 169099171 . T G 1033.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.525;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=58.29;MQ0=0;MQRankSum=1.507;QD=12.16;ReadPosRankSum=-0.529;VQSLOD=4.3479;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,45:85:99:1064,0,1047 3 170078232 170078232 C T exonic SKIL nonsynonymous SNV SKIL:NM_001145097:exon1:c.C113T:p.A38V,SKIL:NM_001248008:exon1:c.C113T:p.A38V,SKIL:NM_005414:exon2:c.C113T:p.A38V,SKIL:NM_001145098:exon3:c.C53T:p.A18V 0.69 0.43 0.82 0.84 0.82 0.67 0.7803 0.4987 0.8128 0.8335 0.8609 0.8192 0.7952 0.7164 0.72 0.52 0.82 0.62 0.85 rs3772173 COSM5425412 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.002 0.063 B 0.002 0.385 N 0.595 0.310 P -0.205 0.041 N 0.26 0.593 T 0.52 0.037 N 0.034 0.034 -0.902 0.478 T 0.000 0.000 T . . . 0.510 0.143 7.508 0.148 0.003 0.395 0.260 N c -0.490 -0.253 1.000 0.747 0.543 0.218 0 4.42 0.526 2.503 0.448 0.892 0.403 1.000 0.715 0.765 0.326 4.104 0.094 . ENSG00000239628.1 Testis 0.7884 0.5003 0.8077 0.8310 0.8382 0.8674 0.8145 0.8019 0.7148 0.7304 0.5003 0.7950 0.8179 0.8379 0.8756 0.8098 0.7749 hom 3358.19 107 3 170078232 . C T 3358.19 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8379;MQ=58.16;MQ0=0;QD=31.38;VQSLOD=8.6394;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3358,277,0 3 170893070 170893070 G A exonic TNIK synonymous SNV TNIK:NM_001161560:exon9:c.C744T:p.N248N,TNIK:NM_001161561:exon9:c.C744T:p.N248N,TNIK:NM_001161562:exon9:c.C744T:p.N248N,TNIK:NM_001161563:exon9:c.C744T:p.N248N,TNIK:NM_001161564:exon9:c.C744T:p.N248N,TNIK:NM_001161565:exon9:c.C744T:p.N248N,TNIK:NM_001161566:exon9:c.C744T:p.N248N,TNIK:NM_015028:exon9:c.C744T:p.N248N 0.57 0.27 0.6 0.87 0.58 0.63 0.5853 0.3183 0.5888 0.8625 0.5715 0.5756 0.5921 0.6332 0.48 0.3 0.57 0.48 . rs12637875 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5872 0.2994 0.5992 0.6075 0.8664 0.5763 0.5692 0.6027 0.6240 0.5167 0.2982 0.5695 0.5695 0.8821 0.5808 0.5807 0.5804 het 529.15 43 3 170893070 . G A 529.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.546;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7128;MQ=58.54;MQ0=0;MQRankSum=-1.449;QD=12.31;ReadPosRankSum=0.475;VQSLOD=5.4133;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,23:43:99:559,0,484 3 171087469 171087469 G A exonic TNIK synonymous SNV TNIK:NM_001161560:exon2:c.C63T:p.P21P,TNIK:NM_001161561:exon2:c.C63T:p.P21P,TNIK:NM_001161562:exon2:c.C63T:p.P21P,TNIK:NM_001161563:exon2:c.C63T:p.P21P,TNIK:NM_001161564:exon2:c.C63T:p.P21P,TNIK:NM_001161565:exon2:c.C63T:p.P21P,TNIK:NM_001161566:exon2:c.C63T:p.P21P,TNIK:NM_015028:exon2:c.C63T:p.P21P 0.45 0.078 0.63 0.43 0.73 0.56 0.6632 0.2337 0.7357 0.5325 0.6979 0.7534 0.6218 0.5800 0.58 0.2 0.74 0.33 . rs3796295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6449 0.1738 0.6815 0.6328 0.4451 0.6798 0.7426 0.6665 0.5754 0.5644 0.1783 0.6838 0.6258 0.4463 0.6874 0.7559 0.7057 hom 306.32 13 3 171087469 . G A 306.32 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.56;VQSLOD=13.5975;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:24.08:339,24,0 3 171969077 171969077 C G exonic FNDC3B nonsynonymous SNV FNDC3B:NM_001135095:exon6:c.C536G:p.T179S,FNDC3B:NM_022763:exon6:c.C536G:p.T179S 0.64 0.92 0.56 0.55 0.52 0.55 0.5509 0.8617 0.5385 0.5061 0.5307 0.5057 0.5310 0.5782 0.61 0.85 0.49 0.71 0.54 rs7652177 COSM149516 1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.758 0.035 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -1.095 0.010 N 1.57 0.293 T 0.55 0.027 N 0.021 0.007 -0.984 0.340 T 0.000 0.000 T . . . 1.041 0.194 10.89 0.952 0.258 0.292 0.235 N c -0.517 -0.223 1.000 0.747 0.722 0.854 0 5.98 0.971 4.111 0.573 0.101 0.200 1.000 0.715 0.996 0.625 17.482 0.875 . . . 0.5406 0.8667 0.5332 0.4954 0.5082 0.5193 0.5031 0.5121 0.5750 0.6049 0.8553 0.5564 0.5033 0.5298 0.5092 0.5004 0.5132 het 1123.94 127 3 171969077 . C G 1123.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.251;DP=127;Dels=0.00;FS=0.703;HRun=0;HaplotypeScore=6.9079;MQ=59.06;MQ0=0;MQRankSum=1.018;QD=8.85;ReadPosRankSum=-0.022;VQSLOD=4.1788;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,49:127:99:1154,0,1954 3 172165727 172165727 C T exonic GHSR synonymous SNV GHSR:NM_004122:exon1:c.G477A:p.R159R,GHSR:NM_198407:exon1:c.G477A:p.R159R 0.24 0.056 0.29 0.42 0.28 0.22 0.3018 0.0838 0.4344 0.4688 0.3298 0.3072 0.2673 0.2261 0.23 0.088 0.3 0.21 0.28 rs572169 COSM3759874;COSM3759875 1(large_intestine) Benign|Benign not_specified|Short_stature\x2c_idiopathic\x2c_autosomal RCV000249477.1|RCV000347022.1 MedGen|MedGen:OMIM:OMIM CN169374|C1858656:604271:615925 Height . .03 20881960 rs572169 3E-18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3078 0.0827 0.4231 0.1896 0.4616 0.3297 0.3089 0.2799 0.2302 0.2538 0.0856 0.3469 0.1987 0.4566 0.3342 0.3046 0.2920 hom 3328.94 109 3 172165727 . C T 3328.94 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6894;MQ=58.87;MQ0=0;QD=30.54;VQSLOD=8.3013;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3328,268,0 3 172166033 172166033 G A exonic GHSR synonymous SNV GHSR:NM_004122:exon1:c.C171T:p.G57G,GHSR:NM_198407:exon1:c.C171T:p.G57G 0.54 0.4 0.66 0.62 0.7 0.39 0.6555 0.4693 0.7549 0.6488 0.6821 0.7165 0.6528 0.4498 0.64 0.48 0.72 0.63 0.54 rs495225 COSM4157441;COSM4157440 1(thyroid) Benign|Benign not_specified|Short_stature\x2c_idiopathic\x2c_autosomal RCV000244530.2|RCV000359880.1 MedGen|MedGen:OMIM:OMIM CN169374|C1858656:604271:615925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6625 0.4623 0.7546 0.6623 0.6428 0.6833 0.7189 0.6683 0.4551 0.6319 0.4639 0.7303 0.6523 0.6467 0.6915 0.7064 0.6568 hom 1477.77 49 3 172166033 . G A 1477.77 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;QD=30.16;VQSLOD=9.3775;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:49:99:1511,132,0 3 172428782 172428782 T C exonic NCEH1 nonsynonymous SNV NCEH1:NM_001146276:exon1:c.A89G:p.Q30R,NCEH1:NM_020792:exon1:c.A89G:p.Q30R 0.54 0.18 0.74 0.72 0.69 0.56 0.6523 0.2593 0.8118 0.6902 0.7695 0.6927 0.69 0.5524 0.54 0.27 0.67 0.46 0.69 rs2276805 COSM4157444;COSM4157445 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.882 0.072 N 1 0.208 P . . . 3.72 0.040 T -0.16 0.095 N 0.014 0.044 -0.970 0.373 T 0.000 0.000 T . . . -1.325 0.021 0.004 0.623 0.067 0.008 0.032 N c -1.247 -1.390 1.000 0.747 0.442 0.072 0 -4.49 0.032 -0.332 0.079 -0.500 0.052 0.001 0.137 0.003 0.074 2.141 0.035 . ENSG00000144959.5|ENSG00000144959.5|ENSG00000144959.5|ENSG00000144959.5|ENSG00000144959.5 Artery_Tibial|Brain_Cerebellum|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6674 0.2502 0.8047 0.6632 0.6924 0.7708 0.6892 0.6837 0.5543 0.5794 0.2672 0.7488 0.6656 0.6918 0.7668 0.6875 0.6762 hom 2703.47 90 3 172428782 . T C 2703.47 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=57.97;MQ0=0;QD=30.04;VQSLOD=8.5577;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2736,229,0 3 172766777 172766777 C T exonic SPATA16 synonymous SNV SPATA16:NM_031955:exon3:c.G720A:p.R240R 0.023 0.0015 0.073 . 0.031 0.034 0.0317 0.0064 0.1135 0.0002 0.0201 0.0251 0.0209 0.0388 0.023 0.0059 0.032 0.022 0.016 rs55724801 . . Likely benign Spermatogenic_Failure RCV000347773.1 MedGen CN239485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0359 0.0061 0.1062 0.0295 0.0001 0.0179 0.0279 0.0327 0.0389 0.0213 0.0064 0.0837 0.0331 0.0006 0.0177 0.0289 0.0276 het 1447.68 119 3 172766777 . C T 1447.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.926;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;MQRankSum=0.609;QD=12.17;ReadPosRankSum=-0.832;VQSLOD=6.1997;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1478,0,1521 3 172835392 172835392 A T exonic SPATA16 nonsynonymous SNV SPATA16:NM_031955:exon2:c.T130A:p.S44T 0.017 0.0015 0.045 . 0.027 0.025 0.0264 0.0054 0.0698 0.0002 0.0340 0.0243 0.0253 0.0280 0.021 0.0041 0.03 0.011 0.016 rs146572379 . . Likely benign Spermatogenic_Failure RCV000274552.1 MedGen CN239485 . . . . . . 0.778 0.033 T 0.0 0.026 B 0.001 0.040 B 0.775 0.095 N 1 0.090 N 0.205 0.094 N 2.45 0.150 T -0.32 0.123 N 0.031 0.012 -0.973 0.365 T 0.003 0.008 T . . . -2.722 0.002 0.001 0.214 0.008 0.039 0.091 N c -1.549 -1.524 0.000 0.038 0.554 0.283 0 -3.05 0.050 -0.522 0.063 -1.566 0.009 0.000 0.063 0.001 0.043 7.37 0.258 . . . 0.0291 0.0056 0.0638 0.0273 0.0001 0.0307 0.0271 0.0230 0.0269 0.0211 0.0052 0.0490 0.0331 0 0.0272 0.0289 0.0285 het 2930.17 245 3 172835392 . A T 2930.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.040;DP=245;DS;Dels=0.00;FS=1.541;HRun=0;HaplotypeScore=4.8982;MQ=58.69;MQ0=0;MQRankSum=2.256;QD=11.96;ReadPosRankSum=1.069;VQSLOD=3.2442;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:125,118:245:99:2960,0,3351 3 174814738 174814738 G A exonic NAALADL2 nonsynonymous SNV NAALADL2:NM_207015:exon2:c.G202A:p.G68S 0.38 0.29 0.42 0.44 0.39 0.4 0.3835 0.2733 0.3950 0.4464 0.4349 0.3925 0.4083 0.3499 0.35 0.27 0.39 0.28 . rs9823911 COSM4997854 2(pancreas);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.466 0.123 N 1 0.090 P -1.15 0.009 N 1.62 0.301 T 1.03 0.022 N 0.014 0.004 -0.918 0.458 T 0.000 0.000 T . . . 0.120 0.105 3.819 0.783 0.118 0.014 0.047 N c -1.222 -1.141 0.000 0.012 0.638 0.428 0 0.957 0.187 0.727 0.255 0.244 0.267 0.012 0.185 0.977 0.480 5.898 0.181 . . . 0.3853 0.2696 0.3967 0.2790 0.4526 0.4288 0.3988 0.4004 0.3438 0.3757 0.2641 0.3861 0.3278 0.4486 0.4386 0.4151 0.4289 het 475.21 44 3 174814738 . G A 475.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.537;DP=44;Dels=0.00;FS=2.713;HRun=0;HaplotypeScore=0.0000;MQ=57.54;MQ0=0;MQRankSum=-0.776;QD=10.80;ReadPosRankSum=-2.733;VQSLOD=3.4995;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,18:44:99:505,0,662 3 174814920 174814920 A G exonic NAALADL2 nonsynonymous SNV NAALADL2:NM_207015:exon2:c.A384G:p.I128M 0.4 0.29 0.45 0.44 0.44 0.41 0.4223 0.2828 0.4139 0.4468 0.4758 0.4493 0.4475 0.3656 0.4 0.28 0.45 0.3 . rs9836841 . . . . . . . . . . . . . 0.191 0.263 T 0.083 0.232 B 0.017 0.170 B 0.021 0.268 N 1 0.090 P 0.51 0.135 N 1.42 0.344 T -1.68 0.401 N 0.056 0.074 -0.906 0.474 T 0.000 0.000 T . . . -1.003 0.032 0.016 0.515 0.045 0.101 0.156 N c -1.031 -1.037 0.000 0.012 0.554 0.246 0 -1.48 0.082 -0.007 0.126 1.140 0.893 0.012 0.185 0.996 0.625 6.192 0.196 . ENSG00000177694.10 Testis 0.4233 0.2794 0.4198 0.3288 0.4531 0.4706 0.4556 0.4387 0.3582 0.4104 0.2729 0.4151 0.3841 0.4502 0.4748 0.4682 0.4602 het 1106.05 89 3 174814920 . A G 1106.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.968;DP=89;Dels=0.00;FS=1.829;HRun=0;HaplotypeScore=0.8941;MQ=59.06;MQ0=0;MQRankSum=-0.514;QD=12.43;ReadPosRankSum=-0.473;VQSLOD=6.5844;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,41:89:99:1136,0,1182 3 174951756 174951756 T C exonic NAALADL2 nonsynonymous SNV NAALADL2:NM_207015:exon3:c.T581C:p.M194T 0.64 0.58 0.57 0.62 0.72 0.71 0.6928 0.6076 0.5445 0.6729 0.7007 0.7275 0.6996 0.7130 0.7 0.63 0.73 0.7 . rs4371530 COSM149518 1(stomach);3(prostate) . . . . . . . . . . . 0.632 0.051 T 0.0 0.026 B 0.006 0.112 B 0.709 0.100 N 1 0.090 P 0.51 0.135 N 1.13 0.386 T -0.91 0.245 N 0.017 0.003 -0.953 0.404 T 0.000 0.000 T . . . -1.521 0.016 0.002 0.668 0.079 0.021 0.062 N c -1.432 -1.416 0.000 0.059 0.660 0.495 0 -3.1 0.050 -0.931 0.040 -1.336 0.013 0.009 0.180 0.771 0.327 11.737 0.509 . . . 0.6871 0.6031 0.5543 0.7516 0.6721 0.6957 0.7269 0.6918 0.7102 0.6824 0.5964 0.5656 0.7517 0.6696 0.7067 0.7322 0.6965 hom 1233.49 37 3 174951756 . T C 1233.49 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.34;VQSLOD=13.5852;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1266,99,0 3 175165079 175165079 C T exonic NAALADL2 nonsynonymous SNV NAALADL2:NM_207015:exon6:c.C1153T:p.P385S 1. 1. 1. 1. 1. 1. 0.9990 1 0.9998 1 0.9992 0.9984 0.9988 1 1. 1. 1. 1. . rs6802937 . . . . . . . . . . . . . 0.934 0.022 T 0.0 0.026 B 0.0 0.013 B 0.028 0.257 N 1 0.090 P -2.65 0.000 N 1.1 0.390 T 1.26 0.010 N 0.032 0.012 -0.951 0.409 T 0.000 0.000 T . . . 0.009 0.094 2.669 0.232 0.010 0.005 0.023 N c -1.312 -1.098 0.000 0.012 0.554 0.246 0 4.53 0.548 0.232 0.175 0.154 0.240 0.004 0.165 0.351 0.246 1.626 0.025 . . . 0.9993 1 0.9997 0.9997 1 0.9995 0.9987 0.9994 1 0.9997 0.9999 1 1 1 0.9997 0.9995 1 hom 768.19 27 3 175165079 . C T 768.19 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.45;VQSLOD=14.2470;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:66.19:801,66,0 3 175189447 175189447 G A exonic NAALADL2 synonymous SNV NAALADL2:NM_207015:exon9:c.G1554A:p.Q518Q 0.55 0.34 0.66 0.68 0.64 0.52 0.6186 0.3809 0.6698 0.6995 0.6827 0.6408 0.6359 0.5644 0.54 0.36 0.63 0.48 . rs9290555 COSM3759879 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6129 0.3594 0.6638 0.6320 0.6802 0.6725 0.6275 0.6112 0.5425 0.5693 0.3748 0.6691 0.7215 0.6790 0.6642 0.6370 0.6268 hom 710.20 23 3 175189447 . G A 710.20 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.88;VQSLOD=13.9757;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.18:743,57,0 3 175473047 175473047 T C exonic NAALADL2 nonsynonymous SNV NAALADL2:NM_207015:exon13:c.T2030C:p.L677S 0.98 1. 0.97 1. 0.94 0.99 0.9536 0.9900 0.9795 1 0.8797 0.9365 0.9488 0.9884 0.95 0.99 0.94 0.98 . rs9826737 . . . . . . . . . . . . . 0.9 0.024 T 0.0 0.026 B 0.0 0.013 B 0.012 0.295 N 1 0.090 P -2.075 0.002 N 1.64 0.278 T 1.76 0.005 N 0.044 0.024 -0.938 0.430 T 0.000 0.000 T . . . 0.209 0.114 4.769 0.310 0.017 0.002 0.009 N c -1.124 -0.963 0.001 0.083 0.638 0.428 0 5.71 0.890 2.307 0.431 0.040 0.155 0.082 0.222 0.003 0.074 6.341 0.204 Transferrin receptor-like\x2c dimerisation domain . . 0.9516 0.9905 0.9782 0.9366 0.9999 0.8741 0.9377 0.9517 0.9878 0.9408 0.9887 0.9749 0.9603 0.9994 0.8672 0.9229 0.9194 hom 2272.14 75 3 175473047 . T C 2272.14 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9914;MQ=57.74;MQ0=0;QD=30.30;VQSLOD=7.9066;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2305,175,0 3 178546026 178546026 T C exonic KCNMB2 synonymous SNV KCNMB2:NM_001278911:exon4:c.T288C:p.N96N,KCNMB2:NM_181361:exon4:c.T288C:p.N96N,KCNMB2:NM_005832:exon5:c.T288C:p.N96N 0.58 0.93 0.52 0.23 0.58 0.53 0.5630 0.8809 0.4637 0.2390 0.5487 0.5820 0.5793 0.5292 0.68 0.87 0.59 0.65 0.52 rs9831934 COSM4415462 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5531 0.8809 0.4759 0.6050 0.2282 0.5497 0.5822 0.5884 0.5303 0.6425 0.8686 0.5251 0.6133 0.1976 0.5238 0.5968 0.5949 het 1933.27 149 3 178546026 . T C 1933.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.214;DP=149;Dels=0.00;FS=2.961;HRun=0;HaplotypeScore=6.4257;MQ=59.44;MQ0=0;MQRankSum=1.469;QD=12.97;ReadPosRankSum=0.720;VQSLOD=4.7584;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:78,71:149:99:1963,0,1997 3 178560581 178560581 A C exonic KCNMB2 synonymous SNV KCNMB2:NM_001278911:exon5:c.A564C:p.T188T,KCNMB2:NM_181361:exon5:c.A564C:p.T188T,KCNMB2:NM_005832:exon6:c.A564C:p.T188T 0.58 0.93 0.53 0.22 0.58 0.52 0.5611 0.8787 0.4642 0.2378 0.5491 0.5808 0.5806 0.5214 0.68 0.87 0.58 0.64 0.5 rs6443583 COSM4415316 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5513 0.8784 0.4759 0.6061 0.2289 0.5496 0.5807 0.5866 0.5225 0.6415 0.8666 0.5251 0.6126 0.2015 0.5241 0.5954 0.5922 het 721.34 50 3 178560581 . A C 721.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.592;DP=50;Dels=0.00;FS=4.022;HRun=1;HaplotypeScore=0.7887;MQ=59.07;MQ0=0;MQRankSum=-1.719;QD=14.43;ReadPosRankSum=1.602;VQSLOD=4.6755;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,26:50:99:751,0,729 3 178968634 178968634 C T exonic KCNMB3 nonsynonymous SNV KCNMB3:NM_171830:exon1:c.G145A:p.A49T,KCNMB3:NM_001163677:exon2:c.G151A:p.A51T,KCNMB3:NM_014407:exon2:c.G157A:p.A53T,KCNMB3:NM_171828:exon2:c.G151A:p.A51T,KCNMB3:NM_171829:exon2:c.G91A:p.A31T 0.32 0.42 0.31 0.12 0.37 0.32 0.3456 0.3825 0.2780 0.1169 0.3583 0.3899 0.3377 0.3056 0.38 0.39 0.38 0.29 0.43 rs7645550 COSM3927778;COSM3927780;COSM149519;COSM3927779 1(stomach);1(prostate) . . . . . . . . . . . 0.005 0.654 D 1.0 0.899 D 0.996 0.832 D 0.000 0.559 D 0.004 0.432 P 2.925 0.847 M 2.89 0.102 T -1.8 0.452 N 0.232 0.302 -0.920 0.456 T 0.000 0.000 T . . . 5.474 0.743 26.2 0.999 0.980 0.864 0.454 D c 0.653 0.607 1.000 0.747 0.707 0.730 0 6.08 0.990 4.626 0.607 0.935 0.490 1.000 0.715 0.104 0.190 18.157 0.896 . . . 0.3431 0.3802 0.2865 0.3342 0.1223 0.3629 0.3962 0.3361 0.3068 0.3616 0.3733 0.3002 0.3808 0.1224 0.3723 0.3814 0.3589 het 1133.70 133 3 178968634 . C T 1133.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.586;DP=133;Dels=0.00;FS=0.699;HRun=0;HaplotypeScore=9.7140;MQ=59.04;MQ0=0;MQRankSum=0.492;QD=8.52;ReadPosRankSum=0.087;VQSLOD=3.6716;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,52:133:99:1164,0,2067 3 179051472 179051472 A G exonic ZNF639 synonymous SNV ZNF639:NM_001303426:exon6:c.A720G:p.E240E,ZNF639:NM_001303425:exon7:c.A720G:p.E240E,ZNF639:NM_016331:exon7:c.A720G:p.E240E 0.088 0.064 0.088 0.071 0.17 0.058 0.1217 0.0780 0.0662 0.0692 0.1101 0.1568 0.1280 0.0780 0.13 0.081 0.16 0.098 0.074 rs35983049 COSM3759880 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1214 0.0794 0.0745 0.1415 0.0671 0.1074 0.1624 0.1355 0.0769 0.1192 0.0786 0.0752 0.1556 0.0748 0.1094 0.1502 0.1395 het 1357.23 101 3 179051472 . A G 1357.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.265;DP=101;Dels=0.00;FS=0.758;HRun=0;HaplotypeScore=2.6975;MQ=58.78;MQ0=0;MQRankSum=0.357;QD=13.44;ReadPosRankSum=-0.642;VQSLOD=6.1226;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,52:101:99:1387,0,1355 3 179096508 179096508 C G exonic MFN1 nonsynonymous SNV MFN1:NM_033540:exon14:c.C1568G:p.P523R 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1 0.9989 1 . . . 1. 1. rs7637065 COSM4590726 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1 0.9998 1.0000 1.0000 1 1 1 1 1 1 0.9990 hom 2106.37 71 3 179096508 . C G 2106.37 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=29.67;VQSLOD=8.6070;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2139,178,0 3 179137273 179137273 A G exonic GNB4 synonymous SNV GNB4:NM_021629:exon4:c.T117C:p.S39S 0.47 0.45 0.51 0.44 0.5 0.5 0.4731 0.4414 0.4923 0.4446 0.5029 0.4647 0.4648 0.5168 0.47 0.46 0.47 0.49 0.37 rs1362650 COSM4418275 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000246315.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4763 0.4479 0.5043 0.4764 0.4286 0.4996 0.4642 0.4741 0.5139 0.4702 0.4530 0.4820 0.4533 0.4283 0.5101 0.4731 0.5010 het 2412.35 203 3 179137273 . A G 2412.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.525;DP=203;DS;Dels=0.00;FS=10.724;HRun=1;HaplotypeScore=5.5520;MQ=59.06;MQ0=0;MQRankSum=-0.470;QD=11.88;ReadPosRankSum=-0.278;VQSLOD=4.2799;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:101,102:203:99:2442,0,2741 3 179143941 179143941 A G exonic GNB4 synonymous SNV GNB4:NM_021629:exon2:c.T48C:p.N16N 0.023 0.022 0.052 0.001 0.036 0.014 0.0338 0.0269 0.0331 0 0.0231 0.0435 0.0477 0.0205 0.035 0.024 0.041 0.054 0.049 rs1078749 . . Benign Charcot-Marie-Tooth_disease\x2c_dominant_intermediate_F RCV000472208.1 MedGen:OMIM:Orphanet C3554654:615185:ORPHA352670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0333 0.0257 0.0295 0.0766 0 0.0228 0.0407 0.0620 0.0204 0.0305 0.0268 0.0406 0.0828 0.0006 0.0246 0.0348 0.0429 het 782.19 84 3 179143941 . A G 782.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.735;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6900;MQ=58.50;MQ0=0;MQRankSum=0.687;QD=9.31;ReadPosRankSum=0.394;VQSLOD=5.9041;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,33:84:99:812,0,1229 3 179298999 179298999 C T exonic ACTL6A synonymous SNV ACTL6A:NM_004301:exon11:c.C1017T:p.D339D,ACTL6A:NM_177989:exon11:c.C891T:p.D297D,ACTL6A:NM_178042:exon11:c.C891T:p.D297D 0.68 0.55 0.67 0.89 0.62 0.71 0.6516 0.5511 0.6368 0.8940 0.6244 0.6300 0.6740 0.6955 0.6 0.56 0.63 0.69 0.65 rs1132429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6558 0.5482 0.6434 0.6945 0.8956 0.6231 0.6286 0.6609 0.6973 0.6159 0.5391 0.6199 0.7152 0.8980 0.6109 0.6273 0.6445 hom 5741.11 186 3 179298999 . C T 5741.11 Mask AC=2;AF=1.00;AN=2;DP=186;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=30.87;VQSLOD=8.6633;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5740,463,0 3 179306775 179306775 C T exonic MRPL47 nonsynonymous SNV MRPL47:NM_177988:exon6:c.G308A:p.R103H,MRPL47:NM_020409:exon7:c.G638A:p.R213H 0.12 0.11 0.15 0.1 0.08 0.18 0.1008 0.0963 0.1757 0.1018 0.0809 0.0735 0.1029 0.1684 0.083 0.092 0.078 0.23 0.041 rs10513762 COSM149520 2(haematopoietic_and_lymphoid_tissue);1(stomach);3(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.475 0.123 T 0.971 0.552 D 0.424 0.434 B 0.419 0.129 N 1 0.090 P 1.1 0.281 L 1.42 0.475 T -2.34 0.593 N 0.042 0.107 -1.083 0.067 T 0.001 0.002 T . . . 1.086 0.198 11.14 0.835 0.142 0.253 0.224 N c -0.715 -0.828 0.105 0.165 0.732 0.924 0 -2.01 0.070 1.092 0.303 -0.281 0.084 0.555 0.272 0.638 0.296 4.352 0.105 . ENSG00000136522.9 Adipose_Subcutaneous 0.1032 0.0963 0.1713 0.0627 0.1010 0.0845 0.0754 0.0895 0.1646 0.0908 0.0982 0.1519 0.0695 0.1077 0.0852 0.0819 0.1079 het 377.72 63 3 179306775 . C T 377.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.712;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=58.33;MQ0=0;MQRankSum=0.145;QD=6.00;ReadPosRankSum=0.190;VQSLOD=5.5415;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,18:63:99:408,0,1162 3 179424862 179424862 A G exonic USP13 synonymous SNV USP13:NM_003940:exon5:c.A618G:p.P206P 0.05 0.059 0.04 0.003 0.065 0.079 0.0528 0.0508 0.0235 0.0012 0.0392 0.0616 0.0595 0.0714 0.061 0.046 0.069 0.033 0.041 rs16830742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0526 0.0508 0.0287 0.0395 0.0023 0.0416 0.0662 0.0542 0.0709 0.0532 0.0534 0.0322 0.0331 0.0019 0.0404 0.0637 0.0458 het 933.77 95 3 179424862 . A G 933.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.005;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6176;MQ=58.90;MQ0=0;MQRankSum=1.098;QD=9.83;ReadPosRankSum=0.071;VQSLOD=6.4658;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,42:95:99:964,0,1353 3 180334623 180334623 C T exonic CCDC39 synonymous SNV CCDC39:NM_181426:exon17:c.G2397A:p.V799V 0.13 0.15 0.21 0.002 0.21 0.096 0.1764 0.1583 0.1790 0.0017 0.2488 0.2085 0.1670 0.1195 0.18 0.15 0.2 0.14 . rs7612917 . . Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000150244.2|RCV000354412.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1762 0.1544 0.1827 0.1555 0.0016 0.2478 0.2072 0.1870 0.1193 0.1904 0.1565 0.1854 0.1523 0.0019 0.2560 0.2144 0.2194 het 383.72 24 3 180334623 . C T 383.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.929;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=0.765;QD=15.99;ReadPosRankSum=0.092;VQSLOD=7.0920;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,16:24:99:414,0,220 3 180365956 180365956 G A exonic CCDC39 synonymous SNV CCDC39:NM_181426:exon10:c.C1359T:p.S453S 0.32 0.74 0.29 0.004 0.25 0.17 0.2579 0.6574 0.2369 0.0042 0.2423 0.2436 0.2352 0.2086 0.35 0.63 0.22 0.4 . rs6769457 . . Benign|Benign\x2cUncertain significance not_specified|Primary_ciliary_dyskinesia\x2cPrimary_ciliary_dyskinesia RCV000150247.2|RCV000392697.1\x2cRCV000298866.1 MedGen|MedGen:Orphanet\x2cMedGen:Orphanet CN169374|C0008780:ORPHA244\x2cC0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2362 0.6561 0.2316 0.1900 0.0034 0.2359 0.2292 0.2523 0.2005 0.3351 0.6396 0.2422 0.2067 0.0049 0.2434 0.2283 0.2551 het 395.36 36 3 180365956 . G A 395.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.183;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.46;MQ0=0;MQRankSum=-0.127;QD=10.98;ReadPosRankSum=-0.380;VQSLOD=6.8751;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,17:36:99:425,0,546 3 182681740 182681740 C T exonic DCUN1D1 synonymous SNV DCUN1D1:NM_001308101:exon3:c.G273A:p.A91A,DCUN1D1:NM_020640:exon3:c.G318A:p.A106A 0.61 0.73 0.7 0.27 0.74 0.61 0.6885 0.7395 0.6618 0.2779 0.7709 0.7489 0.6784 0.6133 0.76 0.74 0.76 0.56 0.75 rs4859146 COSM3945191 1(haematopoietic_and_lymphoid_tissue);1(lung) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6877 0.7381 0.6614 0.6354 0.2844 0.7687 0.7595 0.6986 0.6127 0.7363 0.7379 0.6966 0.6291 0.2701 0.7646 0.7835 0.7352 hom 3937.03 133 3 182681740 . C T 3937.03 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.88;MQ0=0;QD=29.60;VQSLOD=7.8747;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:3936,304,0 3 182755209 182755209 T G exonic MCCC1 nonsynonymous SNV MCCC1:NM_001293273:exon11:c.A1040C:p.H347P,MCCC1:NM_020166:exon13:c.A1391C:p.H464P 0.46 0.19 0.63 0.33 0.73 0.57 0.6248 0.2699 0.5595 0.3327 0.7372 0.7230 0.6630 0.6015 0.58 0.29 0.74 0.41 0.67 rs2270968 COSM4002526 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|3-MCC_Deficiency RCV000081992.4|RCV000262405.1 MedGen|MedGen CN169374|CN239165 Blood metabolite levels . -0.03 24816252 rs2270968 1E-16 0.276 0.157 T 0.001 0.067 B 0.003 0.093 B 0.000 0.629 D 0.887 0.279 P -0.875 0.014 N -1.43 0.807 T -1.37 0.340 N 0.308 0.471 -0.918 0.458 T 0.000 0.000 T . . . 2.160 0.321 17.25 0.867 0.162 0.918 0.540 D c -0.662 -0.374 0.001 0.079 0.707 0.730 0 3.51 0.391 1.116 0.306 0.144 0.231 1.000 0.715 0.986 0.517 8.309 0.310 ATP-grasp fold\x2c subdomain 2|Biotin carboxylase\x2c C-terminal|Biotin carboxylation domain|Rudiment single hybrid motif ENSG00000078070.7|ENSG00000078070.7|ENSG00000243368.2|ENSG00000078070.7 Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial 0.6296 0.2607 0.5565 0.6745 0.3284 0.7408 0.7288 0.6588 0.6018 0.5791 0.2691 0.5706 0.6567 0.3284 0.7285 0.7439 0.6745 hom 2254.10 69 3 182755209 . T G 2254.10 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8658;MQ=58.14;MQ0=0;QD=32.67;VQSLOD=8.8494;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2287,178,0 3 182790249 182790249 G A exonic MCCC1 synonymous SNV MCCC1:NM_020166:exon5:c.C396T:p.L132L 0.92 0.78 0.96 1. 0.93 0.96 0.9297 0.7930 0.9577 0.9997 0.9375 0.9317 0.9383 0.9469 0.89 0.8 0.93 0.87 0.7 rs7622479 . . Benign|Benign not_specified|3-MCC_Deficiency RCV000081994.5|RCV000291937.1 MedGen|MedGen CN169374|CN239165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9324 0.7906 0.9555 0.9001 0.9998 0.9376 0.9327 0.9254 0.9464 0.8975 0.7861 0.9427 0.9139 1 0.9327 0.9382 0.9276 hom 2321.17 71 3 182790249 . G A 2321.17 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2233;MQ=58.99;MQ0=0;QD=32.69;VQSLOD=8.6070;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2354,187,0 3 182853670 182853670 T C exonic LAMP3 nonsynonymous SNV LAMP3:NM_014398:exon5:c.A952G:p.I318V 0.5 0.22 0.5 0.47 0.72 0.65 0.6483 0.2843 0.4773 0.5081 0.7619 0.7344 0.6987 0.6745 0.59 0.3 0.74 0.41 0.66 rs482912 COSM4157457 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.398 0.045 N 0.146 0.353 P -0.315 0.036 N 1.41 0.334 T 0.16 0.052 N 0.022 0.022 -0.967 0.378 T 0.000 0.000 T . . . -1.618 0.014 0.002 0.270 0.013 0.009 0.036 N c -1.555 -1.492 0.000 0.053 0.707 0.730 0 -1.37 0.085 -0.652 0.054 -0.037 0.125 0.000 0.063 0.003 0.074 9.487 0.379 . ENSG00000078070.7|ENSG00000078070.7|ENSG00000078070.7|ENSG00000243368.2 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal 0.6511 0.2777 0.4845 0.7566 0.5063 0.7674 0.7344 0.6668 0.6766 0.6028 0.2827 0.4928 0.7583 0.5292 0.7536 0.7582 0.7010 hom 7286.56 212 3 182853670 . T C 7286.56 Mask AC=2;AF=1.00;AN=2;DP=212;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8308;MQ=59.80;MQ0=0;QD=34.37;VQSLOD=9.7281;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,211:212:99:7286,569,0 3 182871962 182871962 C T exonic LAMP3 synonymous SNV LAMP3:NM_014398:exon2:c.G267A:p.A89A 0.79 0.78 0.83 0.72 0.83 0.78 0.8076 0.7960 0.8103 0.7499 0.8216 0.8238 0.8018 0.7728 0.82 0.79 0.83 0.74 0.86 rs653316 COSM4157458 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8083 0.7924 0.8126 0.8191 0.7475 0.8194 0.8259 0.8029 0.7715 0.8146 0.7976 0.8091 0.7967 0.7450 0.8187 0.8311 0.8224 hom 3684.34 113 3 182871962 . C T 3684.34 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4207;MQ=59.67;MQ0=0;QD=32.60;VQSLOD=9.1219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3684,289,0 3 182925404 182925404 T C exonic MCF2L2 nonsynonymous SNV MCF2L2:NM_015078:exon23:c.A2704G:p.T902A 0.91 0.78 0.94 1. 0.92 0.97 0.9270 0.7865 0.9600 1 0.9389 0.9231 0.9405 0.9642 0.88 0.79 0.92 0.87 0.93 rs6804951 . . . . . . . . . . . . . 0.529 0.070 T 0.0 0.026 B 0.0 0.013 B 0.002 0.384 N 1.000 0.182 P 0 0.065 N 2.8 0.111 T 0.28 0.042 N 0.01 0.001 -0.999 0.302 T 0.000 0.000 T . . . 0.260 0.119 5.302 0.457 0.036 0.290 0.235 N c -1.291 -1.108 0.072 0.156 0.487 0.133 0 3.58 0.400 3.231 0.507 -0.540 0.048 0.885 0.308 0.913 0.390 5.714 0.171 PH domain-like|Pleckstrin homology domain . . 0.9314 0.7885 0.9564 0.8590 0.9999 0.9425 0.9279 0.9248 0.9654 0.8946 0.7892 0.9523 0.8543 1 0.9408 0.9282 0.9408 het 1744.86 118 3 182925404 . T C 1744.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.691;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4639;MQ=59.61;MQ0=0;MQRankSum=0.359;QD=14.79;ReadPosRankSum=0.284;VQSLOD=4.4891;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,64:118:99:1775,0,1311 3 183211906 183211906 A G exonic KLHL6 synonymous SNV KLHL6:NM_130446:exon5:c.T1311C:p.N437N 0.7 0.87 0.58 0.8 0.48 0.67 0.5610 0.8153 0.6218 0.7976 0.3831 0.4760 0.5892 0.6478 0.58 0.8 0.47 0.74 0.36 rs1520101 COSM3759881 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5556 0.8202 0.6132 0.5316 0.7964 0.3907 0.4750 0.5374 0.6492 0.5713 0.8114 0.6065 0.5667 0.7741 0.3972 0.4564 0.4501 het 2808.06 240 3 183211906 . A G 2808.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.743;DP=240;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2611;MQ=59.73;MQ0=0;MQRankSum=-0.979;QD=11.70;ReadPosRankSum=-0.462;VQSLOD=6.2578;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:125,115:240:99:2838,0,3376 3 183212026 183212026 C T exonic KLHL6 synonymous SNV KLHL6:NM_130446:exon5:c.G1191A:p.S397S 0.15 0.24 0.12 0.0069 0.18 0.16 0.1788 0.2264 0.1030 0.0135 0.1373 0.2067 0.2097 0.1906 0.21 0.23 0.2 0.12 0.13 rs2256061 COSM3759882 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1728 0.2258 0.1069 0.1678 0.0146 0.1371 0.2114 0.1900 0.1910 0.1841 0.2286 0.1468 0.1589 0.0166 0.1391 0.1910 0.1605 het 2215.15 165 3 183212026 . C T 2215.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.549;DP=165;Dels=0.00;FS=2.013;HRun=1;HaplotypeScore=5.5667;MQ=59.51;MQ0=0;MQRankSum=-0.477;QD=13.43;ReadPosRankSum=1.387;VQSLOD=4.8627;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,82:165:99:2245,0,1941 3 183368216 183368216 A T exonic KLHL24 synonymous SNV KLHL24:NM_001349415:exon2:c.A72T:p.R24R,KLHL24:NM_001349421:exon2:c.A72T:p.R24R,KLHL24:NM_001349423:exon2:c.A72T:p.R24R,KLHL24:NM_001349426:exon2:c.A72T:p.R24R,KLHL24:NM_001349413:exon3:c.A72T:p.R24R,KLHL24:NM_001349414:exon3:c.A72T:p.R24R,KLHL24:NM_001349416:exon3:c.A72T:p.R24R,KLHL24:NM_001349422:exon3:c.A72T:p.R24R,KLHL24:NM_001349424:exon3:c.A72T:p.R24R,KLHL24:NM_001349425:exon3:c.A72T:p.R24R,KLHL24:NM_017644:exon3:c.A72T:p.R24R,KLHL24:NM_001349417:exon4:c.A72T:p.R24R,KLHL24:NM_001349418:exon4:c.A72T:p.R24R,KLHL24:NM_001349419:exon4:c.A72T:p.R24R,KLHL24:NM_001349420:exon4:c.A72T:p.R24R,KLHL24:NM_001349427:exon4:c.A72T:p.R24R 0.35 0.51 0.28 0.44 0.27 0.18 0.2857 0.4974 0.2882 0.4672 0.2158 0.2603 0.2919 0.1896 0.35 0.48 0.28 0.39 0.21 rs3755648 COSM149525 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2846 0.4965 0.2963 0.2678 0.4741 0.2267 0.2623 0.2802 0.1894 0.3281 0.4961 0.3043 0.3013 0.5043 0.2343 0.2416 0.2337 het 1110.28 88 3 183368216 . A T 1110.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.869;DP=88;Dels=0.00;FS=0.811;HRun=0;HaplotypeScore=2.3883;MQ=58.93;MQ0=0;MQRankSum=0.100;QD=12.62;ReadPosRankSum=-0.669;VQSLOD=5.8452;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,41:88:99:1140,0,1185 3 183368891 183368891 C T exonic KLHL24 synonymous SNV KLHL24:NM_001349415:exon2:c.C747T:p.H249H,KLHL24:NM_001349421:exon2:c.C747T:p.H249H,KLHL24:NM_001349423:exon2:c.C747T:p.H249H,KLHL24:NM_001349426:exon2:c.C747T:p.H249H,KLHL24:NM_001349413:exon3:c.C747T:p.H249H,KLHL24:NM_001349414:exon3:c.C747T:p.H249H,KLHL24:NM_001349416:exon3:c.C747T:p.H249H,KLHL24:NM_001349422:exon3:c.C747T:p.H249H,KLHL24:NM_001349424:exon3:c.C747T:p.H249H,KLHL24:NM_001349425:exon3:c.C747T:p.H249H,KLHL24:NM_017644:exon3:c.C747T:p.H249H,KLHL24:NM_001349417:exon4:c.C747T:p.H249H,KLHL24:NM_001349418:exon4:c.C747T:p.H249H,KLHL24:NM_001349419:exon4:c.C747T:p.H249H,KLHL24:NM_001349420:exon4:c.C747T:p.H249H,KLHL24:NM_001349427:exon4:c.C747T:p.H249H 0.35 0.52 0.29 0.44 0.27 0.18 0.2904 0.4948 0.2904 0.4672 0.2214 0.2663 0.2952 0.1941 0.35 0.49 0.28 0.39 0.22 rs2293031 COSM3759883 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2892 0.4978 0.2983 0.2851 0.4740 0.2329 0.2673 0.2863 0.1939 0.3317 0.4982 0.3103 0.3013 0.5043 0.2384 0.2464 0.2388 het 927 79 3 183368891 . C T 927 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.503;DP=79;Dels=0.00;FS=3.087;HRun=0;HaplotypeScore=1.6598;MQ=60.00;MQ0=0;MQRankSum=-1.253;QD=11.73;ReadPosRankSum=0.221;VQSLOD=6.0284;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,37:79:99:957,0,1085 3 183432983 183432983 C T exonic YEATS2 synonymous SNV YEATS2:NM_001351369:exon2:c.C33T:p.T11T,YEATS2:NM_001351370:exon2:c.C33T:p.T11T,YEATS2:NM_001351371:exon2:c.C33T:p.T11T,YEATS2:NM_018023:exon2:c.C33T:p.T11T 0.19 0.14 0.33 0.29 0.14 0.11 0.1759 0.1554 0.3295 0.3089 0.1543 0.1525 0.1878 0.1130 0.16 0.15 0.16 0.27 0.18 rs3736535 COSM3746616;COSM3746617 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1842 0.1541 0.3277 0.1176 0.3119 0.1594 0.1564 0.1780 0.1130 0.1758 0.1644 0.2947 0.1490 0.3149 0.1590 0.1649 0.1786 het 2912.52 243 3 183432983 . C T 2912.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.860;DP=243;Dels=0.00;FS=3.594;HRun=0;HaplotypeScore=7.1141;MQ=59.06;MQ0=0;MQRankSum=0.731;QD=11.99;ReadPosRankSum=0.559;VQSLOD=4.9404;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,123:243:99:2943,0,2814 3 183476685 183476685 G A exonic YEATS2 nonsynonymous SNV YEATS2:NM_001351369:exon13:c.G1588A:p.V530I,YEATS2:NM_001351370:exon13:c.G1591A:p.V531I,YEATS2:NM_001351371:exon13:c.G1588A:p.V530I,YEATS2:NM_018023:exon13:c.G1588A:p.V530I 0.43 0.26 0.45 0.52 0.45 0.51 0.4372 0.2873 0.4858 0.5089 0.3201 0.4416 0.4289 0.4845 0.39 0.28 0.44 0.47 0.39 rs262993 COSM3759884;COSM3759885 1(large_intestine) . . . . . . . . . . . 0.003 0.682 D 0.094 0.238 B 0.01 0.139 B 0.088 0.205 N 1.000 0.189 P 0 0.065 N 1.59 0.288 T -0.31 0.121 N 0.018 0.003 -0.957 0.398 T 0.000 0.000 T . . . 4.036 0.542 23.7 0.996 0.754 0.950 0.628 D c -0.069 0.139 0.255 0.187 0.707 0.730 0 4.15 0.478 5.468 0.663 0.998 0.613 1.000 0.715 0.951 0.427 14.675 0.684 . ENSG00000180834.3|ENSG00000180834.3|ENSG00000233885.3|ENSG00000180834.3|ENSG00000233885.3|ENSG00000180834.3|ENSG00000180834.3|ENSG00000180834.3|ENSG00000180834.3|ENSG00000233885.3|ENSG00000233885.3|ENSG00000233885.3|ENSG00000233885.3|ENSG00000180834.3|ENSG00000233885.3|ENSG00000180834.3|ENSG00000180834.3 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.4303 0.2802 0.4676 0.4858 0.4963 0.3251 0.4375 0.4392 0.4713 0.3843 0.2855 0.4582 0.4801 0.4913 0.3511 0.4309 0.4012 het 2097.60 180 3 183476685 . G A 2097.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.982;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9525;MQ=58.48;MQ0=0;MQRankSum=1.672;QD=11.65;ReadPosRankSum=0.939;VQSLOD=5.8720;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,90:180:99:2128,0,2201 3 183493744 183493746 GGA - exonic YEATS2 nonframeshift deletion YEATS2:NM_001351369:exon18:c.2410_2412del:p.G814del,YEATS2:NM_001351370:exon18:c.2413_2415del:p.G815del,YEATS2:NM_001351371:exon18:c.2410_2412del:p.G814del,YEATS2:NM_018023:exon18:c.2410_2412del:p.G814del . . . . . . 0.4485 0.3679 0.4897 0.4917 0.3576 0.4532 0.4447 0.4634 . . . . . rs757328974 COSM4589980;COSM1484898 1(kidney);22(upper_aerodigestive_tract);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4321 0.3553 0.4634 0.4529 0.4749 0.3547 0.4380 0.4366 0.4397 0.4173 0.3679 0.4681 0.5102 0.4880 0.3655 0.4456 0.4203 het 1086.43 114 3 183493743 . CGGA C 1086.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.692;DP=114;FS=8.981;HRun=0;HaplotypeScore=439.3048;MQ=60.45;MQ0=0;MQRankSum=0.753;QD=9.53;ReadPosRankSum=-0.515;set=variant2 GT:AD:DP:GQ:PL 0/1:80,33:114:99:1125,0,1286 3 183660585 183660585 G A exonic ABCC5 synonymous SNV ABCC5:NM_001320032:exon25:c.C2208T:p.L736L,ABCC5:NM_005688:exon25:c.C3624T:p.L1208L 0.25 0.19 0.27 0.44 0.18 0.19 0.2010 0.1809 0.2400 0.4372 0.2136 0.1726 0.2056 0.1717 0.17 0.16 0.17 0.22 0.16 rs3749442 COSM4808734 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2040 0.1841 0.2371 0.1231 0.4345 0.2153 0.1754 0.2037 0.1705 0.1939 0.1749 0.1957 0.1159 0.4491 0.2327 0.1717 0.1684 hom 4032.73 126 3 183660585 . G A 4032.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.705;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9967;MQ=58.99;MQ0=0;MQRankSum=0.440;QD=32.01;ReadPosRankSum=-0.412;VQSLOD=9.6453;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,125:126:99:4032,316,0 3 183685534 183685534 A G exonic ABCC5 synonymous SNV ABCC5:NM_001320032:exon12:c.T366C:p.C122C,ABCC5:NM_005688:exon12:c.T1782C:p.C594C 0.69 0.79 0.6 0.86 0.57 0.57 0.5870 0.7769 0.5141 0.8640 0.4856 0.5539 0.5933 0.5549 0.63 0.77 0.56 0.65 0.46 rs939336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5818 0.7804 0.5248 0.5493 0.8596 0.5017 0.5563 0.5763 0.5515 0.6195 0.7659 0.5132 0.5331 0.8705 0.5243 0.5433 0.5235 hom 6174.29 193 3 183685534 . A G 6174.29 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.361;DP=193;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.28;MQ0=0;MQRankSum=0.523;QD=31.99;ReadPosRankSum=-0.541;VQSLOD=9.7382;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,192:193:99:6138,458,0 3 183696402 183696402 A G exonic ABCC5 synonymous SNV ABCC5:NM_005688:exon9:c.T1185C:p.A395A 0.68 0.75 0.59 0.85 0.57 0.57 0.5821 0.7372 0.5112 0.8544 0.4855 0.5539 0.5911 0.5502 0.62 0.73 0.56 0.67 0.46 rs1132776 COSM3759886 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5777 0.7407 0.5228 0.5492 0.8511 0.5016 0.5562 0.5744 0.5462 0.6070 0.7247 0.5084 0.5331 0.8591 0.5241 0.5432 0.5215 hom 1591.47 53 3 183696402 . A G 1591.47 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.471;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7878;MQ=59.65;MQ0=0;MQRankSum=1.667;QD=30.03;ReadPosRankSum=1.405;VQSLOD=6.7785;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,52:53:99:1624,108,0 3 183755822 183755822 G A exonic HTR3D nonsynonymous SNV HTR3D:NM_182537:exon4:c.G155A:p.R52H,HTR3D:NM_001145143:exon6:c.G530A:p.R177H,HTR3D:NM_001163646:exon6:c.G674A:p.R225H 0.76 0.86 0.71 0.92 0.65 0.63 0.6623 0.8264 0.6508 0.9194 0.5320 0.6330 0.6399 0.6039 0.7 0.82 0.64 0.84 0.55 rs1000952 COSM3759890;COSM3759889;COSM3759891 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.063 0.531 T 0.998 0.715 D 0.753 0.543 P 0.000 0.460 N 1.000 0.249 P 1.385 0.346 L -1.05 0.931 T -2.94 0.700 D 0.147 0.174 -0.944 0.421 T 0.000 0.000 T . . . 3.528 0.482 23.1 0.976 0.342 0.813 0.405 D c -0.536 -0.678 0.798 0.241 0.556 0.300 0 0.149 0.141 0.252 0.179 0.268 0.268 0.407 0.260 0.006 0.095 . . Neurotransmitter-gated ion-channel ligand-binding domain ENSG00000114770.12|ENSG00000114770.12 Esophagus_Mucosa|Whole_Blood 0.6581 0.8329 0.6570 0.7103 0.9175 0.5455 0.6282 0.6543 0.6008 0.6801 0.8212 0.6595 0.6722 0.9196 0.5684 0.6050 0.5920 hom 3001.41 94 3 183755822 . G A 3001.41 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=58.91;MQ0=0;QD=31.93;VQSLOD=8.8746;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3034,244,0 3 183756702 183756702 G A exonic HTR3D nonsynonymous SNV HTR3D:NM_182537:exon6:c.G779A:p.R260H,HTR3D:NM_001145143:exon8:c.G1154A:p.R385H,HTR3D:NM_001163646:exon8:c.G1304A:p.R435H 0.68 0.84 0.65 0.75 0.59 0.5 0.6006 0.7880 0.6154 0.7573 0.5042 0.5854 0.5672 0.4918 0.65 0.78 0.59 0.79 0.49 rs6789754 COSM3759893;COSM3759894;COSM3759892 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.16 0.268 T 0.796 0.428 P 0.16 0.331 B 0.656 0.105 N 1 0.090 P 1.5 0.380 L -1.55 0.817 D -3.24 0.657 D 0.054 0.259 -0.916 0.461 T 0.000 0.000 T . . . 3.152 0.438 22.6 0.985 0.415 0.107 0.160 N c -0.483 -0.472 0.167 0.177 0.497 0.185 0 1.16 0.198 2.383 0.438 0.880 0.385 0.051 0.212 0.982 0.498 4.145 0.096 Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel transmembrane domain . . 0.5975 0.7965 0.6188 0.6249 0.7535 0.5156 0.5833 0.5945 0.4903 0.6341 0.7870 0.6148 0.6026 0.7671 0.5381 0.5602 0.5524 hom 7383.08 249 3 183756702 . G A 7383.08 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=51.59;MQ0=4;QD=29.65;VQSLOD=3.1275;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,248:249:99:7382,593,0 3 183823576 183823576 T C exonic HTR3E synonymous SNV HTR3E:NM_001256614:exon5:c.T822C:p.S274S,HTR3E:NM_198314:exon5:c.T744C:p.S248S,HTR3E:NM_182589:exon6:c.T789C:p.S263S,HTR3E:NM_198313:exon6:c.T699C:p.S233S,HTR3E:NM_001256613:exon7:c.T744C:p.S248S 1. 1. 1. 1. 1. 1. 0.9973 0.9994 0.9992 1 0.9932 0.9966 1 0.9976 1. 1. 1. 1. 1. rs4912524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9972 0.9995 0.9994 1 1 0.9940 0.9959 0.9987 0.9977 0.9967 0.9989 0.9988 1 1 0.9946 0.9958 0.9898 hom 6102.69 181 3 183823576 . T C 6102.69 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7302;MQ=59.41;MQ0=0;QD=33.72;VQSLOD=6.7149;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:6102,472,0 3 183861243 183861243 A G exonic EIF2B5 nonsynonymous SNV EIF2B5:NM_003907:exon13:c.A1759G:p.I587V 0.39 0.33 0.36 0.53 0.3 0.44 0.3498 0.3288 0.3901 0.5240 0.3197 0.3138 0.3359 0.4021 0.33 0.33 0.33 0.29 0.32 rs843358 COSM3759899 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign not_specified|Leukoencephalopathy_with_vanishing_white_matter RCV000080353.8|RCV000313724.1 MedGen|MedGen:OMIM CN169374|C1858991:603896 . . . . . . 0.27 0.162 T 0.591 0.372 P 0.163 0.332 B 0.000 0.843 D 0.000 0.588 P 0.735 0.189 N -1.55 0.817 D -0.19 0.100 N 0.236 0.312 -0.973 0.365 T 0.000 0.000 T . . . 2.254 0.332 17.86 0.983 0.391 0.955 0.647 D c -0.022 0.151 1.000 0.747 0.742 0.982 0 5.72 0.893 5.207 0.648 1.088 0.866 1.000 0.715 0.999 0.750 16.015 0.801 Armadillo-type fold|MIF4G-like domain|W2 domain ENSG00000161203.9|ENSG00000161202.13|ENSG00000161202.13|ENSG00000161202.13|ENSG00000161203.9|ENSG00000161202.13|ENSG00000161204.7|ENSG00000161202.13 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial 0.3508 0.3213 0.3829 0.2752 0.5246 0.3091 0.3203 0.3283 0.4018 0.3333 0.3159 0.3600 0.2815 0.5411 0.2913 0.3307 0.3296 het 1751.43 129 3 183861243 . A G 1751.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.450;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.46;MQ0=0;MQRankSum=-0.809;QD=13.58;ReadPosRankSum=0.709;VQSLOD=6.6509;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,72:129:99:1781,0,1444 3 183896641 183896641 T C exonic AP2M1 unknown UNKNOWN 0.42 0.18 0.38 0.57 0.47 0.57 0.4673 0.2251 0.3650 0.5586 0.5014 0.4860 0.4688 0.5460 0.4 0.22 0.49 0.34 0.5 rs2231216 COSM4416704 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4636 0.2180 0.3669 0.3722 0.5597 0.4948 0.4925 0.4442 0.5442 0.4186 0.2175 0.3421 0.3576 0.5888 0.4923 0.5014 0.4888 het 1229.57 89 3 183896641 . T C 1229.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.743;DP=89;Dels=0.00;FS=0.850;HRun=3;HaplotypeScore=2.2829;MQ=59.45;MQ0=1;MQRankSum=0.285;QD=13.82;ReadPosRankSum=0.412;VQSLOD=6.8055;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,45:89:99:1260,0,1169 3 183908982 183908982 C T exonic ABCF3 nonsynonymous SNV ABCF3:NM_001351298:exon16:c.C1490T:p.P497L,ABCF3:NM_001351299:exon16:c.C779T:p.P260L,ABCF3:NM_001351300:exon16:c.C845T:p.P282L,ABCF3:NM_018358:exon16:c.C1508T:p.P503L 0.026 0.003 0.04 . 0.05 0.047 0.0300 0.0066 0.0220 0 0.0192 0.0387 0.0419 0.0349 0.032 0.0098 0.043 0.043 0.057 rs11706273 . . . . . . . . . . . . . 0.045 0.408 D 0.051 0.276 B 0.017 0.170 B 0.000 0.629 D 1 0.810 D 1.43 0.360 L -3.02 0.923 D -4.57 0.787 D 0.167 0.467 -0.191 0.779 T 0.282 0.654 T . . . 3.577 0.487 23.2 0.992 0.537 0.958 0.661 D c -0.062 0.037 1.000 0.747 0.719 0.830 0 5.74 0.900 3.750 0.546 0.852 0.362 0.943 0.325 0.539 0.277 18.923 0.925 ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase . . 0.0296 0.0058 0.0201 0.0302 0 0.0161 0.0406 0.0343 0.0369 0.0227 0.0065 0.0191 0.0199 0.0006 0.0132 0.0363 0.0316 het 4095.54 250 3 183908982 . C T 4095.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.022;DP=250;DS;Dels=0.00;FS=1.011;HRun=0;HaplotypeScore=3.8287;MQ=59.41;MQ0=0;MQRankSum=-1.515;QD=16.38;ReadPosRankSum=0.451;VQSLOD=5.2653;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:130,120:250:99:3426,0,3602 3 183975365 183975365 C T exonic ECE2 nonsynonymous SNV ECE2:NM_014693:exon2:c.C301T:p.H101Y,ECE2:NM_032331:exon2:c.C301T:p.H101Y 0.99 1. 0.99 1. 0.97 1. 0.9811 0.9954 0.9935 0.9999 0.9814 0.9714 0.9901 0.9924 0.98 0.99 0.97 0.98 0.96 rs7633387 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.000 0.588 P 0.2 0.092 N -0.01 0.628 T 0.44 0.041 N 0.123 0.152 -0.955 0.401 T 0.000 0.000 T . . . 1.059 0.196 10.99 0.834 0.142 0.234 0.218 N c -0.521 -0.273 0.997 0.355 0.706 0.609 0 5.88 0.945 2.324 0.432 0.090 0.195 1.000 0.715 0.992 0.562 11.369 0.487 Methyltransferase type 11|S-adenosyl-L-methionine-dependent methyltransferase . . 0.9811 0.9956 0.9928 0.9841 0.9998 0.9812 0.9693 0.9834 0.9924 0.9807 0.9959 0.9916 0.9901 1 0.9823 0.9683 0.9868 hom 3857.90 119 3 183975365 . C T 3857.90 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.367;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9665;MQ=59.61;MQ0=0;MQRankSum=0.899;QD=32.42;ReadPosRankSum=-0.300;VQSLOD=8.2855;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,117:119:99:3857,322,0 3 183976103 183976103 C T exonic ECE2 nonsynonymous SNV ECE2:NM_032331:exon3:c.C508T:p.R170W 0.088 0.0061 0.11 0.069 0.18 0.11 0.1451 0.0278 0.1283 0.0690 0.2105 0.1739 0.1567 0.1270 0.13 0.035 0.17 0.076 0.14 rs11546878 COSM4002532 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.005 0.632 D 0.996 0.670 D 0.649 0.506 P . . . 0.000 0.588 P . . . -0.17 0.656 T -2.89 0.606 D 0.16 0.192 -1.073 0.088 T 0.000 0.002 T . . . 2.209 0.327 17.57 0.999 0.962 0.729 0.354 D c 0.325 0.315 0.754 0.234 0.706 0.609 0 3.1 0.346 2.419 0.441 0.852 0.362 1.000 0.715 1.000 0.888 3.725 0.079 . . . 0.1463 0.0256 0.1295 0.1346 0.0716 0.2143 0.1740 0.1395 0.1226 0.1327 0.0282 0.1205 0.1523 0.0747 0.2136 0.1794 0.1612 het 3222.65 242 3 183976103 . C T 3222.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.380;DP=242;DS;Dels=0.00;FS=0.480;HRun=0;HaplotypeScore=5.6030;MQ=59.71;MQ0=0;MQRankSum=-0.175;QD=13.32;ReadPosRankSum=-0.283;VQSLOD=5.1254;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,115:242:99:3253,0,3313 3 183994447 183994447 C T exonic ECE2 nonsynonymous SNV ECE2:NM_001100120:exon2:c.C218T:p.T73I 0.021 0.0023 0.035 . 0.041 0.039 0.0443 0.0064 0.0415 0.0004 0.0306 0.0551 0.0906 0.0531 0.021 0.0055 0.028 0.022 0.0082 rs13063766 . . . . . . . . . . . . . 0.066 0.433 T 0.001 0.067 B 0.002 0.063 B 0.079 0.023 U 1.000 0.537 D . . . -1.55 0.817 D -0.32 0.320 N 0.058 0.041 -0.877 0.500 T 0.102 0.378 T . . . 2.218 0.328 17.62 0.984 0.404 0.074 0.132 N c -0.952 -0.922 0.337 0.195 0.598 0.340 0 1.36 0.210 0.326 0.192 0.852 0.362 0.000 0.063 0.368 0.249 8.484 0.320 Methyltransferase type 11|S-adenosyl-L-methionine-dependent methyltransferase . . 0.0264 0.0044 0.0215 0.0469 7.659e-05 0.0170 0.0331 0.0350 0.0343 0.0204 0.0048 0.0251 0.0267 0.0006 0.0166 0.0316 0.0276 het 51.66 12 3 183994447 . C T 51.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.555;DP=12;Dels=0.00;FS=3.090;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=4.31;ReadPosRankSum=0.185;VQSLOD=3.7223;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,3:12:81.66:82,0,248 3 183996068 183996068 C T exonic ECE2 synonymous SNV ECE2:NM_001037324:exon5:c.C630T:p.A210A,ECE2:NM_001100120:exon6:c.C855T:p.A285A,ECE2:NM_001100121:exon6:c.C717T:p.A239A,ECE2:NM_014693:exon6:c.C1071T:p.A357A 0.5 0.59 0.61 0.42 0.53 0.36 0.5102 0.6059 0.6693 0.4490 0.4820 0.5075 0.5121 0.3926 0.55 0.61 0.52 0.54 0.5 rs3752904 COSM4002535;COSM4002536;COSM4002537 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5168 0.6044 0.6619 0.6032 0.4433 0.4939 0.5030 0.5274 0.3932 0.5228 0.6009 0.6337 0.6424 0.4338 0.5 0.4858 0.4898 het 1512.79 128 3 183996068 . C T 1512.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.486;DP=128;Dels=0.00;FS=4.280;HRun=0;HaplotypeScore=3.9530;MQ=59.16;MQ0=0;MQRankSum=-0.441;QD=11.82;ReadPosRankSum=0.948;VQSLOD=5.3756;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,64:128:99:1543,0,1678 3 184020542 184020542 G T exonic PSMD2 nonsynonymous SNV PSMD2:NM_001278708:exon5:c.G549T:p.E183D,PSMD2:NM_001278709:exon5:c.G462T:p.E154D,PSMD2:NM_002808:exon7:c.G939T:p.E313D 0.077 0.0061 0.11 0.033 0.16 0.11 0.1310 0.0253 0.1354 0.0258 0.1905 0.1548 0.1457 0.1286 0.12 0.03 0.16 0.065 0.12 rs11545169 . . . . . . . . . . . . . 0.87 0.026 T 0.0 0.026 B 0.0 0.040 B 0.000 0.843 D 1.507e-15 0.588 P -0.39 0.030 N 1.8 0.253 T 1.05 0.014 N 0.051 0.040 -0.954 0.404 T 0.000 0.000 T . . . 0.575 0.149 7.980 0.874 0.167 0.870 0.461 D c -0.965 -0.732 1.000 0.462 0.707 0.730 0 1.32 0.208 0.440 0.212 -0.222 0.097 0.997 0.399 0.997 0.653 8.954 0.348 Armadillo-type fold . . 0.1346 0.0237 0.1328 0.1326 0.0268 0.1931 0.1568 0.1358 0.1296 0.1181 0.0259 0.1253 0.1433 0.0234 0.1946 0.1610 0.1531 het 2594.40 215 3 184020542 . G T 2594.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.008;DP=215;Dels=0.00;FS=7.754;HRun=1;HaplotypeScore=8.5180;MQ=59.55;MQ0=0;MQRankSum=-0.942;QD=12.07;ReadPosRankSum=0.634;VQSLOD=3.8895;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,100:215:99:2624,0,3174 3 184037533 184037533 A G exonic EIF4G1 nonsynonymous SNV EIF4G1:NM_198244:exon4:c.A220G:p.T74A,EIF4G1:NM_182917:exon6:c.A481G:p.T161A,EIF4G1:NM_001194947:exon7:c.A502G:p.T168A,EIF4G1:NM_001291157:exon7:c.A361G:p.T121A,EIF4G1:NM_198241:exon7:c.A481G:p.T161A,EIF4G1:NM_001194946:exon8:c.A502G:p.T168A 1. 1. 1. 1. 1. 1. 0.9981 0.9991 0.9989 1 0.9968 0.9972 0.9987 0.9997 1. 1. 1. 0.97 0.92 rs13319149 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.027 0.258 N 0.998 0.258 P -1.22 0.008 N 1.41 0.334 T -0.69 0.197 N 0.06 0.347 -0.983 0.343 T 0.000 0.000 T . . . -0.080 0.086 1.882 0.811 0.131 0.044 0.099 N c -1.291 -1.165 1.000 0.747 0.722 0.854 0 -1.84 0.073 0.747 0.258 0.076 0.183 0.602 0.275 0.953 0.430 5.942 0.183 . . . 0.9980 0.9989 0.9992 0.9995 0.9999 0.9975 0.9967 0.9983 0.9996 0.9975 0.9990 0.9976 1 1 0.9966 0.9967 0.9949 hom 622.14 23 3 184037533 . A G 622.14 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.05;VQSLOD=13.1287;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:54.15:655,54,0 3 184039666 184039666 A G exonic EIF4G1 nonsynonymous SNV EIF4G1:NM_004953:exon3:c.A706G:p.M236V,EIF4G1:NM_198242:exon6:c.A802G:p.M268V,EIF4G1:NM_198244:exon7:c.A1033G:p.M345V,EIF4G1:NM_182917:exon9:c.A1294G:p.M432V,EIF4G1:NM_001194947:exon10:c.A1315G:p.M439V,EIF4G1:NM_001291157:exon10:c.A1174G:p.M392V,EIF4G1:NM_198241:exon10:c.A1294G:p.M432V,EIF4G1:NM_001194946:exon11:c.A1315G:p.M439V 0.78 0.98 0.8 0.65 0.75 0.66 0.7554 0.9532 0.8292 0.6582 0.6838 0.7508 0.7428 0.6775 0.82 0.94 0.76 0.86 0.7 rs2178403 . . . . . . . . . . . . . 0.905 0.048 T 0.0 0.026 B 0.0 0.013 B 0.110 0.026 N 1 0.090 P -0.895 0.014 N 0.07 0.617 T 0.36 0.044 N 0.017 0.208 -0.946 0.418 T 0.000 0.000 T . . . -2.381 0.004 0.001 0.335 0.020 0.005 0.023 N c -1.465 -1.367 1.000 0.747 0.722 0.854 0 2.77 0.315 0.682 0.248 -0.376 0.066 0.005 0.169 0.008 0.104 2.972 0.055 . . . 0.7545 0.9559 0.8238 0.8267 0.6547 0.6954 0.7481 0.7681 0.6754 0.7852 0.9565 0.8162 0.8377 0.6582 0.7049 0.7187 0.7265 het 4166.45 243 3 184039666 . A G 4166.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.628;DP=243;DS;Dels=0.00;FS=7.377;HRun=0;HaplotypeScore=11.3134;MQ=59.27;MQ0=0;MQRankSum=-0.181;QD=17.15;ReadPosRankSum=-1.730;VQSLOD=2.3448;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,126:243:99:3512,0,2959 3 184071063 184071063 G C exonic CLCN2 nonsynonymous SNV CLCN2:NM_001171088:exon16:c.C1871G:p.T624S,CLCN2:NM_001171087:exon17:c.C1952G:p.T651S,CLCN2:NM_001171089:exon17:c.C2003G:p.T668S,CLCN2:NM_004366:exon17:c.C2003G:p.T668S 0.46 0.71 0.37 0.1 0.56 0.46 0.4896 0.6838 0.3177 0.0995 0.4155 0.5496 0.4967 0.4787 0.59 0.68 0.55 0.56 0.48 rs9820367 COSM149533 1(stomach);1(haematopoietic_and_lymphoid_tissue);2(pancreas);1(prostate) Uncertain significance Leukoencephalopathy_with_ataxia RCV000201825.1 MedGen:OMIM:Orphanet C3810242:615651:ORPHA363540 . . . . . . 0.826 0.031 T 0.0 0.026 B 0.0 0.040 B 0.053 0.229 N 0.000 0.588 P -0.475 0.027 N -1.75 0.840 D 0.92 0.018 N 0.009 0.019 -0.935 0.434 T 0.000 0.000 T . . . 0.658 0.157 8.548 0.651 0.075 0.019 0.058 N c -0.873 -0.672 1.000 0.747 0.707 0.730 0 4.72 0.591 1.487 0.349 0.067 0.174 0.025 0.199 0.938 0.411 8.349 0.313 CBS domain . . 0.4739 0.6870 0.3219 0.4759 0.1008 0.4268 0.5545 0.5029 0.4791 0.5310 0.6824 0.3305 0.4603 0.1009 0.4330 0.5293 0.4653 hom 6811.98 216 3 184071063 . G C 6811.98 Mask AC=2;AF=1.00;AN=2;DP=216;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2974;MQ=59.34;MQ0=0;QD=31.54;VQSLOD=6.9639;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:6811,527,0 3 184075047 184075047 A G exonic CLCN2 synonymous SNV CLCN2:NM_001171088:exon8:c.T774C:p.I258I,CLCN2:NM_001171087:exon9:c.T906C:p.I302I,CLCN2:NM_001171089:exon9:c.T906C:p.I302I,CLCN2:NM_004366:exon9:c.T906C:p.I302I 0.35 0.47 0.44 0.37 0.24 0.24 0.2922 0.4477 0.4884 0.4025 0.2069 0.2465 0.3137 0.2164 0.31 0.44 0.24 0.38 0.25 rs2228291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2952 0.4491 0.4671 0.3475 0.4053 0.2108 0.2382 0.3096 0.2187 0.3061 0.4514 0.4378 0.3477 0.4169 0.2106 0.2266 0.2613 het 1013.33 71 3 184075047 . A G 1013.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.373;DP=71;Dels=0.00;FS=1.000;HRun=0;HaplotypeScore=3.3264;MQ=59.35;MQ0=0;MQRankSum=0.129;QD=14.27;ReadPosRankSum=-0.529;VQSLOD=6.4659;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,35:71:99:1043,0,897 3 184290348 184290348 G A exonic EPHB3 synonymous SNV EPHB3:NM_004443:exon3:c.G240A:p.V80V 0.058 0.088 0.072 . 0.11 0.014 0.0748 0.0912 0.0428 0 0.0778 0.0956 0.0746 0.0209 0.093 0.086 0.097 0.11 0.082 rs9862375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0719 0.0881 0.0473 0.0949 0 0.0767 0.0960 0.0782 0.0209 0.0802 0.0889 0.0656 0.0993 0 0.0816 0.0847 0.0692 het 959.09 76 3 184290348 . G A 959.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.141;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3745;MQ=58.16;MQ0=1;MQRankSum=1.649;QD=12.62;ReadPosRankSum=-0.175;VQSLOD=4.6959;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:36,40:76:99:989,0,1010 3 184293769 184293769 T C exonic EPHB3 synonymous SNV EPHB3:NM_004443:exon4:c.T1008C:p.C336C 0.34 0.56 0.25 0.17 0.36 0.25 0.3143 0.5461 0.1863 0.1470 0.2282 0.3397 0.3038 0.2776 0.4 0.53 0.33 0.36 0.38 rs7652597 COSM4002539 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3042 0.5514 0.1983 0.4543 0.1453 0.2311 0.3339 0.3328 0.2762 0.3514 0.5369 0.2327 0.4371 0.1298 0.2330 0.3052 0.2720 het 4208.12 237 3 184293769 . T C 4208.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.459;DP=237;DS;Dels=0.00;FS=3.392;HRun=0;HaplotypeScore=7.5397;MQ=59.43;MQ0=0;MQRankSum=-0.123;QD=17.76;ReadPosRankSum=-0.225;VQSLOD=4.1127;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,126:237:99:3578,0,2889 3 184298663 184298663 G A exonic EPHB3 synonymous SNV EPHB3:NM_004443:exon13:c.G2535A:p.Q845Q 0.066 0.11 0.073 . 0.12 0.018 0.0760 0.1065 0.0487 0.0001 0.0800 0.0984 0.0733 0.0234 0.1 0.1 0.1 0.12 0.082 rs11719912 COSM5035120 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0740 0.1037 0.0517 0.0906 0 0.0771 0.0992 0.0873 0.0241 0.0872 0.1065 0.0728 0.0993 0 0.0830 0.0880 0.0706 het 2874.19 221 3 184298663 . G A 2874.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.734;DP=221;Dels=0.00;FS=3.811;HRun=1;HaplotypeScore=6.8375;MQ=59.40;MQ0=0;MQRankSum=-0.889;QD=13.01;ReadPosRankSum=0.310;VQSLOD=4.2787;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,110:221:99:2904,0,3107 3 184299167 184299167 T C exonic EPHB3 synonymous SNV EPHB3:NM_004443:exon15:c.T2859C:p.S953S 0.33 0.55 0.24 0.17 0.35 0.25 0.3079 0.5405 0.1781 0.1482 0.2191 0.3266 0.3051 0.2939 0.39 0.52 0.32 0.35 0.31 rs1138510 COSM4419800 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2935 0.5438 0.1894 0.4317 0.1452 0.2220 0.3206 0.3176 0.2743 0.3421 0.5291 0.2213 0.3974 0.1284 0.2246 0.2943 0.2673 het 1380.70 89 3 184299167 . T C 1380.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.878;DP=89;Dels=0.00;FS=4.643;HRun=1;HaplotypeScore=1.6208;MQ=59.79;MQ0=0;MQRankSum=0.514;QD=15.51;ReadPosRankSum=-2.774;VQSLOD=4.7587;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,47:89:99:1411,0,1128 3 184428903 184428903 T G exonic MAGEF1 nonsynonymous SNV MAGEF1:NM_022149:exon1:c.A707C:p.E236A 0.56 0.51 0.5 0.44 0.76 0.58 0.6446 0.5220 0.4081 0.4239 0.7301 0.7384 0.6865 0.5876 0.67 0.53 0.75 0.55 0.71 rs9872799 COSM4002541 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.028 0.461 D 0.988 0.604 D 0.926 0.644 D 0.000 0.629 D 1 0.090 P 2.75 0.806 M 3.48 0.052 T -4.49 0.780 D 0.101 0.104 -0.980 0.351 T 0.000 0.000 T . . . 2.131 0.317 17.06 0.985 0.415 0.052 0.109 N c -0.336 -0.551 1.000 0.747 0.733 0.969 0 -0.905 0.099 0.789 0.264 1.061 0.807 0.002 0.151 0.156 0.207 4.218 0.099 MAGE homology domain ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.6381 0.5167 0.4228 0.6582 0.4216 0.7265 0.7461 0.6797 0.5848 0.6459 0.5108 0.4833 0.6424 0.4266 0.7122 0.7382 0.7016 het 1124.90 98 3 184428903 . T G 1124.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.793;DP=98;Dels=0.00;FS=2.032;HRun=0;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;MQRankSum=2.062;QD=11.48;ReadPosRankSum=1.797;VQSLOD=5.4240;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,40:98:99:1155,0,1731 3 184429133 184429133 - TCC exonic MAGEF1 nonframeshift insertion MAGEF1:NM_022149:exon1:c.476_477insGGA:p.E158_D159insE . . . . . . 0.6201 0.5184 0.3776 0.3754 0.7070 0.7163 0.6560 0.5601 . . . . . rs397720350 COSM1421400 4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6086 0.5223 0.3914 0.6241 0.3798 0.6724 0.7212 0.6491 0.5616 0.6381 0.5234 0.4572 0.6133 0.3884 0.6871 0.7286 0.6874 het 1953.66 95 3 184429133 . A ATCC 1953.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.367;DP=95;FS=3.224;HRun=0;HaplotypeScore=307.5621;MQ=57.28;MQ0=0;MQRankSum=-0.016;QD=20.56;ReadPosRankSum=-2.506;set=variant2 GT:AD:DP:GQ:PL 0/1:61,33:95:99:1993,0,1391 3 184429414 184429414 C A exonic MAGEF1 nonsynonymous SNV MAGEF1:NM_022149:exon1:c.G196T:p.A66S 0.49 0.31 0.47 0.44 0.74 0.56 0.6072 0.3458 0.3859 0.4231 0.7126 0.7070 0.6515 0.5709 0.59 0.35 0.71 0.42 0.66 rs10937187 COSM3759908 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.063 0.219 B 0.026 0.195 B 0.254 0.037 N 1 0.090 P 1.245 0.315 L 3.73 0.040 T 0.46 0.031 N 0.069 0.056 -1.014 0.257 T 0.000 0.000 T . . . 0.048 0.098 3.064 0.764 0.111 0.062 0.120 N c -0.920 -0.960 1.000 0.747 0.442 0.072 0 2.1 0.261 0.980 0.289 0.700 0.299 0.013 0.187 0.023 0.138 5.094 0.140 . ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3 Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Thyroid|Whole_Blood 0.6021 0.3348 0.3984 0.6452 0.4209 0.7106 0.7123 0.6435 0.5659 0.5778 0.3381 0.4652 0.6358 0.4253 0.6975 0.7050 0.6684 het 2051.10 154 3 184429414 . C A 2051.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.102;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4499;MQ=59.46;MQ0=0;MQRankSum=-0.268;QD=13.32;ReadPosRankSum=-0.265;VQSLOD=5.6037;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,79:154:99:2081,0,2052 3 184573555 184573555 C T exonic VPS8 synonymous SNV VPS8:NM_001349296:exon12:c.C1053T:p.Y351Y,VPS8:NM_001009921:exon13:c.C1092T:p.Y364Y,VPS8:NM_001349293:exon13:c.C1092T:p.Y364Y,VPS8:NM_001349294:exon13:c.C1092T:p.Y364Y,VPS8:NM_001349295:exon13:c.C1092T:p.Y364Y,VPS8:NM_015303:exon13:c.C1086T:p.Y362Y,VPS8:NM_001349292:exon14:c.C1092T:p.Y364Y 0.55 0.68 0.46 0.66 0.36 0.55 0.4146 0.6336 0.4183 0.6746 0.3933 0.3305 0.3998 0.4953 0.42 0.61 0.33 0.59 . rs6443999 COSM3759910;COSM3759909 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4133 0.6321 0.4219 0.3256 0.6812 0.3981 0.3291 0.3809 0.4964 0.4480 0.6337 0.4390 0.3212 0.6753 0.3876 0.3371 0.3804 het 2751.30 250 3 184573555 . C T 2751.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.936;DP=250;DS;Dels=0.00;FS=3.564;HRun=0;HaplotypeScore=5.8772;MQ=57.92;MQ0=0;MQRankSum=-1.190;QD=11.01;ReadPosRankSum=0.374;VQSLOD=4.1389;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:132,118:250:99:2781,0,3130 3 184633247 184633247 A C exonic VPS8 synonymous SNV VPS8:NM_001349296:exon26:c.A2328C:p.L776L,VPS8:NM_001009921:exon27:c.A2367C:p.L789L,VPS8:NM_001349293:exon27:c.A2367C:p.L789L,VPS8:NM_001349294:exon27:c.A2367C:p.L789L,VPS8:NM_001349295:exon27:c.A2367C:p.L789L,VPS8:NM_001349297:exon27:c.A648C:p.L216L,VPS8:NM_015303:exon27:c.A2361C:p.L787L,VPS8:NM_001349292:exon28:c.A2367C:p.L789L,VPS8:NM_001349298:exon28:c.A567C:p.L189L 0.46 0.36 0.54 0.34 0.63 0.46 0.5748 0.3909 0.5849 0.3283 0.5593 0.6503 0.5940 0.5049 0.58 0.4 0.66 0.4 . rs4686879 COSM4002543;COSM4002542 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5750 0.3919 0.5783 0.6716 0.3198 0.5578 0.6522 0.6077 0.5012 0.5431 0.3929 0.5695 0.68 0.3257 0.5633 0.6413 0.5967 het 557.95 45 3 184633247 . A C 557.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.941;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.65;MQ0=0;MQRankSum=0.715;QD=12.40;ReadPosRankSum=0.148;VQSLOD=6.6109;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:588,0,561 3 184700356 184700356 A C exonic VPS8 synonymous SNV VPS8:NM_001349296:exon39:c.A3384C:p.A1128A,VPS8:NM_001009921:exon40:c.A3423C:p.A1141A,VPS8:NM_001349293:exon40:c.A3423C:p.A1141A,VPS8:NM_001349294:exon40:c.A3423C:p.A1141A,VPS8:NM_001349295:exon40:c.A3423C:p.A1141A,VPS8:NM_001349297:exon40:c.A1704C:p.A568A,VPS8:NM_015303:exon40:c.A3417C:p.A1139A,VPS8:NM_001349292:exon41:c.A3423C:p.A1141A,VPS8:NM_001349298:exon41:c.A1623C:p.A541A 0.85 0.62 0.96 0.89 0.99 0.9 0.9413 0.6597 0.9672 0.9051 0.9797 0.9829 0.9644 0.9244 0.88 0.67 0.98 0.81 . rs4572747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9471 0.6620 0.9672 0.9837 0.9052 0.9787 0.9830 0.9629 0.9222 0.8892 0.6778 0.9714 0.99 0.8974 0.9758 0.9799 0.9541 hom 2644.27 86 3 184700356 . A C 2644.27 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.09;MQ0=0;QD=30.75;VQSLOD=9.1158;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2677,202,0 3 184766301 184766301 T C exonic VPS8 nonsynonymous SNV VPS8:NM_001349296:exon45:c.T4052C:p.I1351T,VPS8:NM_001009921:exon46:c.T4091C:p.I1364T,VPS8:NM_001349293:exon46:c.T4091C:p.I1364T,VPS8:NM_001349294:exon46:c.T4091C:p.I1364T,VPS8:NM_001349295:exon46:c.T4091C:p.I1364T,VPS8:NM_001349297:exon46:c.T2372C:p.I791T,VPS8:NM_015303:exon46:c.T4085C:p.I1362T,VPS8:NM_001349292:exon47:c.T4091C:p.I1364T,VPS8:NM_001349298:exon47:c.T2291C:p.I764T 0.19 0.41 0.14 0.054 0.14 0.11 0.1443 0.3750 0.0758 0.0475 0.1358 0.1439 0.1381 0.1111 0.22 0.36 0.15 0.22 . rs3821750 COSM3759914;COSM3759913 1(large_intestine) . . . . . . . . . . . 0.433 0.201 T 0.0 0.156 B 0.0 0.193 B 0.089 0.204 N 0.995 0.234 P 0.755 0.192 N 2.29 0.171 T -1.28 0.322 N 0.058 0.117 -0.925 0.448 T 0.000 0.000 T . . . 1.479 0.240 13.20 0.983 0.393 0.757 0.368 D c -0.436 -0.187 0.839 0.248 0.706 0.609 0 4.89 0.632 1.812 0.384 1.061 0.807 1.000 0.715 1.000 0.888 8.061 0.296 Zinc finger\x2c RING-type|Zinc finger\x2c RING/FYVE/PHD-type ENSG00000156931.11|ENSG00000156931.11|ENSG00000156931.11|ENSG00000156931.11|ENSG00000156931.11|ENSG00000156931.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Nerve_Tibial|Thyroid 0.1395 0.3764 0.0830 0.0992 0.0455 0.1358 0.1510 0.1243 0.1125 0.2023 0.3676 0.1098 0.0967 0.0407 0.1297 0.1537 0.1152 het 1527.79 114 3 184766301 . T C 1527.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.866;DP=114;Dels=0.00;FS=1.520;HRun=2;HaplotypeScore=3.5726;MQ=58.92;MQ0=0;MQRankSum=-0.319;QD=13.40;ReadPosRankSum=-0.698;VQSLOD=6.1264;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,57:114:99:1558,0,1269 3 184801094 184801094 G A exonic C3orf70 nonsynonymous SNV C3orf70:NM_001025266:exon2:c.C454T:p.P152S 0.063 0.052 0.063 0.053 0.086 0.065 0.0759 0.0583 0.0427 0.0455 0.1077 0.0877 0.0782 0.0657 0.08 0.063 0.088 0.065 0.098 rs61740263 COSM3759915 1(large_intestine) . . . . . . . . . . . 0.213 0.194 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 D 1.000 0.186 P 1.175 0.300 L . . . -5.05 0.827 D 0.039 0.019 -1.103 0.037 T 0.002 0.007 T . . . 0.622 0.153 8.310 0.960 0.278 0.831 0.420 D c -0.458 -0.336 0.042 0.145 0.615 0.372 0 4.04 0.461 1.517 0.352 0.953 0.551 0.763 0.290 0.086 0.183 6.607 0.218 . ENSG00000187068.2|ENSG00000187068.2 Testis|Thyroid 0.0752 0.0568 0.0474 0.0604 0.0427 0.1032 0.0894 0.0713 0.0669 0.0799 0.0550 0.0680 0.0596 0.0438 0.0999 0.0949 0.0754 het 1519.67 95 3 184801094 . G A 1519.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.044;DP=95;Dels=0.00;FS=2.743;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;MQRankSum=0.562;QD=16.00;ReadPosRankSum=1.127;VQSLOD=5.9802;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,55:95:99:1550,0,1057 3 185146702 185146702 C T exonic MAP3K13 synonymous SNV MAP3K13:NM_004721:exon2:c.C333T:p.S111S,MAP3K13:NM_001242314:exon3:c.C333T:p.S111S 0.15 0.013 0.14 0.22 0.16 0.25 0.1580 0.0346 0.1146 0.2342 0.1948 0.1502 0.1898 0.2412 0.11 0.039 0.15 0.14 0.13 rs3732577 COSM4157482;COSM4157481 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1579 0.0316 0.1195 0.1445 0.2311 0.1836 0.1491 0.1535 0.2401 0.1241 0.0350 0.1337 0.1126 0.2348 0.1898 0.1460 0.1619 het 1193.22 94 3 185146702 . C T 1193.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.420;DP=94;Dels=0.00;FS=5.500;HRun=0;HaplotypeScore=0.7887;MQ=59.54;MQ0=0;MQRankSum=-0.098;QD=12.69;ReadPosRankSum=1.028;VQSLOD=5.9078;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,47:94:99:1223,0,1147 3 185990096 185990096 C T exonic DGKG nonsynonymous SNV DGKG:NM_001080744:exon11:c.G947A:p.R316K,DGKG:NM_001080745:exon11:c.G947A:p.R316K,DGKG:NM_001346:exon11:c.G947A:p.R316K 0.81 0.92 0.84 0.74 0.8 0.72 0.7935 0.9004 0.8276 0.7292 0.8075 0.7896 0.7896 0.7460 0.82 0.9 0.79 0.86 0.8 rs2193587 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.080 B 0.000 0.629 N 1 0.090 P -0.705 0.018 N -3.01 0.922 D 0.22 0.204 N 0.045 0.025 -0.938 0.430 T 0.000 0.000 T . . . 1.236 0.214 11.94 0.702 0.089 0.060 0.119 N c -1.019 -0.745 0.997 0.351 0.487 0.133 0 3.92 0.444 1.691 0.371 -0.210 0.100 1.000 0.715 0.997 0.653 8.269 0.308 Diacylglycerol/phorbol-ester binding|Protein kinase C-like\x2c phorbol ester/diacylglycerol-binding domain;Protein kinase C-like\x2c phorbol ester/diacylglycerol-binding domain . . 0.7914 0.9004 0.8329 0.7439 0.7255 0.8106 0.7877 0.7929 0.7431 0.8230 0.8940 0.8146 0.7914 0.7305 0.8116 0.7981 0.7816 hom 4620.41 149 3 185990096 . C T 4620.41 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6949;MQ=58.79;MQ0=0;QD=31.01;VQSLOD=9.3834;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4620,355,0 3 186006566 186006566 T C exonic DGKG synonymous SNV DGKG:NM_001080744:exon6:c.A477G:p.V159V,DGKG:NM_001080745:exon6:c.A477G:p.V159V,DGKG:NM_001346:exon6:c.A477G:p.V159V 0.7 0.69 0.7 0.71 0.7 0.68 0.7081 0.6935 0.7071 0.7188 0.7901 0.7025 0.7428 0.6999 0.69 0.69 0.69 0.69 0.66 rs710443 COSM4415519 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7040 0.6858 0.7055 0.5845 0.7094 0.7841 0.6999 0.7039 0.7034 0.7076 0.6872 0.6878 0.6192 0.7025 0.7922 0.7026 0.7169 hom 7488.11 243 3 186006566 . T C 7488.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=243;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0782;MQ=59.62;MQ0=0;MQRankSum=0.535;QD=30.82;ReadPosRankSum=0.706;VQSLOD=8.8682;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,242:243:99:7487,578,0 3 186006618 186006618 G C exonic DGKG nonsynonymous SNV DGKG:NM_001080744:exon6:c.C425G:p.T142S,DGKG:NM_001080745:exon6:c.C425G:p.T142S,DGKG:NM_001346:exon6:c.C425G:p.T142S 0.52 0.44 0.51 0.61 0.53 0.53 0.5270 0.4395 0.5100 0.6058 0.5505 0.5273 0.5447 0.5417 0.49 0.44 0.52 0.49 0.43 rs1004588 COSM4157489 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid) . . . . . . . . . . . 0.814 0.033 T 0.002 0.090 B 0.006 0.133 B 0.914 0.085 N 1 0.090 P 0.695 0.181 N 1.0 0.414 T 0.04 0.065 N 0.057 0.040 -0.922 0.453 T 0.000 0.000 T . . . -1.570 0.015 0.002 0.428 0.032 0.063 0.122 N c -1.255 -1.199 0.996 0.343 0.487 0.133 0 2.16 0.265 1.920 0.394 -0.752 0.034 0.802 0.295 0.000 0.016 5.379 0.154 Diacylglycerol kinase type I\x2c N-terminal . . 0.5261 0.4296 0.5043 0.5026 0.6157 0.5458 0.5321 0.5141 0.5211 0.5119 0.4362 0.5168 0.4371 0.6330 0.5527 0.5314 0.5615 het 2526.07 236 3 186006618 . G C 2526.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.851;DP=236;DS;Dels=0.00;FS=0.496;HRun=0;HaplotypeScore=13.2332;MQ=59.54;MQ0=0;MQRankSum=0.540;QD=10.70;ReadPosRankSum=1.446;VQSLOD=2.2118;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,106:236:99:2556,0,3307 3 186337713 186337713 T C exonic AHSG nonsynonymous SNV AHSG:NM_001622:exon6:c.T743C:p.M248T 0.74 0.79 0.6 0.74 0.68 0.82 0.6830 0.7497 0.5642 0.7248 0.6038 0.6671 0.7236 0.7966 0.69 0.75 0.65 0.66 0.73 rs4917 COSM4002545 2(haematopoietic_and_lymphoid_tissue) other Leanness\x2c_susceptibility_to RCV000017418.2 . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.620 0.108 N 1 0.090 P . . . 3.7 0.041 T 2.41 0.003 N 0.049 0.030 -1.000 0.300 T 0.000 0.000 T . . . -1.937 0.009 0.001 0.751 0.106 0.021 0.061 N c -1.256 -1.282 1.000 0.747 0.516 0.203 0 -0.913 0.099 -0.433 0.070 -0.407 0.061 0.001 0.137 0.428 0.259 3.826 0.083 Cystatin domain|Fetuin-A-type cystatin domain . . 0.6749 0.7497 0.5652 0.7643 0.7354 0.6031 0.6615 0.6852 0.7933 0.6826 0.7499 0.6112 0.7682 0.7475 0.6072 0.6558 0.6879 het 1077.98 94 3 186337713 . T C 1077.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.619;DP=94;Dels=0.00;FS=3.917;HRun=0;HaplotypeScore=0.9894;MQ=59.11;MQ0=0;MQRankSum=1.037;QD=11.47;ReadPosRankSum=-0.212;VQSLOD=6.4082;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,45:94:99:1108,0,1181 3 186338425 186338425 A C exonic AHSG synonymous SNV AHSG:NM_001622:exon7:c.A810C:p.T270T 0.81 0.88 0.66 0.84 0.76 0.87 0.7659 0.8488 0.6254 0.8259 0.6794 0.7547 0.7936 0.8590 0.78 0.85 0.74 0.74 0.8 rs1071592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7574 0.8512 0.6267 0.8359 0.8340 0.6848 0.7514 0.7700 0.8574 0.7740 0.8567 0.6746 0.8278 0.8401 0.6857 0.7443 0.7669 het 2778.47 217 3 186338425 . A C 2778.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.469;DP=217;DS;Dels=0.00;FS=11.599;HRun=3;HaplotypeScore=6.1902;MQ=59.39;MQ0=0;MQRankSum=0.294;QD=12.80;ReadPosRankSum=-0.089;VQSLOD=4.3134;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,102:217:99:2808,0,3054 3 186358366 186358366 A C exonic FETUB synonymous SNV FETUB:NM_001308077:exon1:c.A117C:p.S39S,FETUB:NM_001308079:exon1:c.A117C:p.S39S,FETUB:NM_014375:exon1:c.A117C:p.S39S 0.12 0.17 0.092 0.12 0.12 0.047 0.1146 0.1568 0.0444 0.1167 0.1194 0.1298 0.0960 0.0741 0.14 0.15 0.13 0.15 0.041 rs1047115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1108 0.1533 0.0533 0.1059 0.1105 0.1220 0.1305 0.1163 0.0739 0.1350 0.1434 0.0730 0.1126 0.1116 0.1312 0.1383 0.1222 het 3206.20 247 3 186358366 . A C 3206.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.947;DP=247;DS;Dels=0.00;FS=0.465;HRun=1;HaplotypeScore=9.0342;MQ=59.45;MQ0=0;MQRankSum=-0.228;QD=12.98;ReadPosRankSum=-1.125;VQSLOD=4.3226;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,121:247:99:3236,0,3636 3 186370333 186370333 G T exonic FETUB synonymous SNV FETUB:NM_001308079:exon5:c.G867T:p.V289V,FETUB:NM_001308077:exon6:c.G951T:p.V317V,FETUB:NM_014375:exon7:c.G1062T:p.V354V 0.66 0.8 0.59 0.75 0.46 0.62 0.5402 0.7459 0.6022 0.7325 0.4173 0.4628 0.5531 0.6275 0.55 0.73 0.46 0.66 0.46 rs1131364 COSM4157492 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5357 0.7532 0.5954 0.5216 0.7278 0.4135 0.4590 0.5124 0.6300 0.5474 0.7410 0.5764 0.5695 0.7503 0.4146 0.4450 0.4990 het 1599.02 102 3 186370333 . G T 1599.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.326;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5206;MQ=58.42;MQ0=0;MQRankSum=-0.896;QD=15.68;ReadPosRankSum=-0.135;VQSLOD=4.6344;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:38,64:102:99:1629,0,1001 3 186370350 186370350 A G exonic FETUB nonsynonymous SNV FETUB:NM_001308079:exon5:c.A884G:p.K295R,FETUB:NM_001308077:exon6:c.A968G:p.K323R,FETUB:NM_014375:exon7:c.A1079G:p.K360R 0.073 0.12 0.058 0.09 0.043 0.04 0.0509 0.1040 0.0249 0.0771 0.0266 0.0471 0.0433 0.0476 0.063 0.097 0.046 0.065 0.033 rs7999 . . . . . . . . . . . . . 0.358 0.161 T 0.004 0.112 B 0.007 0.121 B 0.079 0.023 N 1 0.090 P 1.01 0.254 L 0.81 0.485 T -0.71 0.208 N 0.011 0.003 -1.100 0.041 T 0.001 0.003 T . . . -1.661 0.013 0.002 0.332 0.020 0.021 0.062 N c -1.697 -1.756 0.989 0.317 0.554 0.283 0 -2.58 0.058 -0.273 0.085 -0.636 0.042 0.000 0.063 0.001 0.043 6.299 0.202 . . . 0.0483 0.1020 0.0270 0.0891 0.0719 0.0258 0.0446 0.0551 0.0473 0.0581 0.0933 0.0430 0.0993 0.0797 0.0306 0.0426 0.0431 het 1637.64 90 3 186370350 . A G 1637.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.459;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58.58;MQ0=0;MQRankSum=-1.180;QD=18.20;ReadPosRankSum=-0.331;VQSLOD=6.0859;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,59:90:99:1668,0,804 3 186390627 186390627 C T exonic HRG nonsynonymous SNV HRG:NM_000412:exon5:c.C610T:p.P204S 0.49 0.63 0.4 0.57 0.33 0.46 0.3854 0.5989 0.3352 0.5415 0.2795 0.3350 0.3816 0.4505 0.43 0.59 0.34 0.5 0.3 rs9898 COSM1179693 16(soft_tissue);1(pancreas);1(prostate);1(thyroid);1(large_intestine) . . . . . Activated partial thromboplastin time . .26 20303064 rs9898 1E-11 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.421 N 1.000 0.182 P -2.515 0.001 N 2.64 0.128 T 3.03 0.001 N 0.101 0.153 -0.951 0.409 T 0.000 0.000 T . . . 0.086 0.102 3.461 0.133 0.003 0.009 0.035 N c -1.096 -0.844 0.050 0.148 0.497 0.185 0 4.35 0.513 2.140 0.415 0.154 0.240 0.993 0.376 0.219 0.221 7.213 0.250 Cystatin domain . . 0.3804 0.6049 0.3457 0.3918 0.5463 0.2761 0.3345 0.3722 0.4534 0.4079 0.5936 0.3612 0.4133 0.5643 0.2797 0.3199 0.3388 het 746.21 80 3 186390627 . C T 746.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.005;DP=80;Dels=0.00;FS=0.900;HRun=0;HaplotypeScore=0.6651;MQ=59.48;MQ0=0;MQRankSum=1.104;QD=9.33;ReadPosRankSum=1.658;VQSLOD=6.0792;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,34:80:99:776,0,1257 3 186395572 186395572 A T exonic HRG nonsynonymous SNV HRG:NM_000412:exon7:c.A1478T:p.N493I 0.65 0.71 0.59 0.81 0.48 0.62 0.5520 0.6862 0.6094 0.7974 0.4701 0.4833 0.5650 0.6081 0.55 0.68 0.48 0.63 0.55 rs1042464 COSM4157493 17(soft_tissue);1(pancreas);1(skin);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.006 0.325 N 1.000 0.090 P -2.16 0.001 N 3.46 0.053 T 3.4 0.001 N 0.033 0.013 -1.002 0.294 T 0.000 0.000 T . . . 0.670 0.158 8.629 0.166 0.005 0.013 0.044 N c -1.228 -0.948 0.002 0.093 0.497 0.185 0 4.57 0.557 1.922 0.394 -0.002 0.135 0.426 0.261 0.972 0.466 7.778 0.280 . . . 0.5504 0.6932 0.6019 0.5099 0.7949 0.4668 0.4813 0.5372 0.6129 0.5582 0.6838 0.6005 0.5331 0.8134 0.4713 0.4784 0.5214 het 1532.96 142 3 186395572 . A T 1532.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.521;DP=142;Dels=0.00;FS=0.634;HRun=1;HaplotypeScore=0.9159;MQ=58.30;MQ0=0;MQRankSum=0.193;QD=10.80;ReadPosRankSum=0.357;VQSLOD=5.5512;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,63:142:99:1563,0,2060 3 186440243 186440243 G A exonic KNG1 synonymous SNV KNG1:NM_000893:exon3:c.G324A:p.T108T,KNG1:NM_001102416:exon3:c.G324A:p.T108T,KNG1:NM_001166451:exon3:c.G324A:p.T108T 0.24 0.16 0.39 0.21 0.34 0.2 0.3023 0.1648 0.4297 0.2358 0.3046 0.3313 0.3430 0.2141 0.28 0.17 0.33 0.26 0.4 rs1469859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3083 0.1582 0.4192 0.3517 0.2269 0.3074 0.3288 0.3399 0.2147 0.2716 0.1650 0.4175 0.3344 0.2318 0.3136 0.3160 0.3143 het 648.35 65 3 186440243 . G A 648.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.259;DP=65;Dels=0.00;FS=2.113;HRun=0;HaplotypeScore=8.2088;MQ=58.48;MQ0=0;MQRankSum=0.947;QD=9.97;ReadPosRankSum=-1.782;VQSLOD=3.9827;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,28:65:99:678,0,960 3 186443018 186443018 T C exonic KNG1 nonsynonymous SNV KNG1:NM_000893:exon4:c.T533C:p.M178T,KNG1:NM_001102416:exon4:c.T533C:p.M178T,KNG1:NM_001166451:exon4:c.T533C:p.M178T 0.52 0.61 0.61 0.36 0.54 0.5 0.5373 0.5956 0.6705 0.3847 0.5228 0.5307 0.5430 0.5190 0.55 0.6 0.52 0.51 0.59 rs1656922 COSM149539;COSM149540 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.71 0.040 T 0.0 0.026 B 0.0 0.013 B 0.447 0.048 N 1 0.090 P -0.665 0.020 N 1.77 0.258 T 1.34 0.009 N 0.014 0.002 -0.934 0.436 T 0.000 0.000 T . . . -2.237 0.005 0.001 0.466 0.037 0.004 0.020 N c -1.711 -1.664 0.000 0.050 0.500 0.196 0 -0.388 0.118 -0.044 0.119 -1.100 0.018 0.000 0.063 0.055 0.167 0.989 0.013 Cystatin domain|Kininogen-type cystatin domain . . 0.5371 0.5938 0.6545 0.5294 0.3743 0.5224 0.5280 0.5447 0.5167 0.5334 0.5849 0.6360 0.5066 0.3972 0.5281 0.5146 0.5276 het 1442.22 119 3 186443018 . T C 1442.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.527;DP=119;Dels=0.00;FS=1.471;HRun=0;HaplotypeScore=2.9539;MQ=59.32;MQ0=0;MQRankSum=-0.194;QD=12.12;ReadPosRankSum=-0.816;VQSLOD=6.5117;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1472,0,1436 3 186459927 186459927 T C exonic KNG1 nonsynonymous SNV KNG1:NM_001102416:exon10:c.T1742C:p.I581T 0.42 0.52 0.47 0.3 0.42 0.36 0.4154 0.5155 0.4697 0.3153 0.3683 0.4186 0.4244 0.3761 0.44 0.5 0.41 0.43 0.49 rs710446 COSM149541 3(haematopoietic_and_lymphoid_tissue);1(stomach);1(skin);1(lung) . . . . . Activated partial thromboplastin time . .36 20303064 rs710446 1E-21 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.329 N 1.000 0.588 P -2.24 0.001 N 2.75 0.116 T 1.68 0.006 N 0.045 0.025 -0.982 0.345 T 0.000 0.000 T . . . -0.038 0.090 2.234 0.540 0.049 0.004 0.020 N c -0.794 -0.551 1.000 0.747 0.447 0.083 0 5.61 0.853 2.629 0.459 -0.326 0.075 0.266 0.248 0.002 0.062 11.057 0.470 . . . 0.4158 0.5180 0.4688 0.5145 0.3062 0.3726 0.4129 0.4319 0.3764 0.4289 0.5209 0.4916 0.5 0.3061 0.3799 0.3970 0.4043 het 2793.83 222 3 186459927 . T C 2793.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.654;DP=222;Dels=0.00;FS=2.311;HRun=0;HaplotypeScore=6.5324;MQ=58.95;MQ0=0;MQRankSum=0.326;QD=12.58;ReadPosRankSum=-0.721;VQSLOD=5.0434;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,104:222:99:2824,0,2955 3 186570892 186570892 T G exonic ADIPOQ synonymous SNV ADIPOQ:NM_004797:exon2:c.T45G:p.G15G,ADIPOQ:NM_001177800:exon3:c.T45G:p.G15G 0.15 0.036 0.19 0.3 0.13 0.15 0.1289 0.0456 0.1839 0.3069 0.0478 0.1173 0.1280 0.1293 0.092 0.048 0.12 0.054 0.066 rs2241766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1339 0.0431 0.1863 0.1999 0.3011 0.0513 0.1154 0.1389 0.1332 0.0904 0.0480 0.1778 0.16 0.2897 0.0509 0.0961 0.0963 het 1321.18 107 3 186570892 . T G 1321.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.835;DP=107;Dels=0.00;FS=2.530;HRun=2;HaplotypeScore=2.7122;MQ=59.30;MQ0=0;MQRankSum=2.439;QD=12.35;ReadPosRankSum=-0.644;VQSLOD=5.3806;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,52:107:99:1351,0,1350 3 186917751 186917751 C G exonic RTP1 nonsynonymous SNV RTP1:NM_153708:exon2:c.C685G:p.Q229E 0.43 0.4 0.47 0.28 0.54 0.47 0.4759 0.3994 0.4001 0.2824 0.4959 0.5220 0.4584 0.4913 0.48 0.4 0.52 0.38 0.39 rs6764714 COSM3759920 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.351 N 1 0.090 P 0.55 0.145 N 1.62 0.282 T -0.48 0.154 N 0.056 0.039 -0.976 0.358 T 0.000 0.000 T . . . 0.084 0.102 3.442 0.622 0.067 0.018 0.056 N c -0.780 -0.618 0.910 0.263 0.615 0.372 0 5.74 0.900 1.719 0.374 0.133 0.217 0.528 0.269 0.580 0.285 12.993 0.579 . ENSG00000198491.3|ENSG00000175077.5 Artery_Aorta|Nerve_Tibial 0.4680 0.3982 0.4004 0.5391 0.2837 0.4768 0.5192 0.4738 0.4726 0.4715 0.3873 0.4582 0.5067 0.2969 0.5040 0.5291 0.5143 hom 4300.61 144 3 186917751 . C G 4300.61 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6336;MQ=58.98;MQ0=0;QD=29.87;VQSLOD=8.4874;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4300,361,0 3 186953808 186953808 C T exonic MASP1 synonymous SNV MASP1:NM_139125:exon11:c.G1851A:p.L617L 0.21 0.026 0.35 0.2 0.35 0.24 0.2908 0.0597 0.3001 0.2076 0.3435 0.3389 0.3086 0.2571 0.25 0.068 0.34 0.15 0.34 rs850312 COSM149542 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2979 0.0559 0.2995 0.3052 0.2092 0.3517 0.3432 0.3178 0.2574 0.2597 0.0625 0.3282 0.26 0.2274 0.3515 0.3482 0.3320 het 2333.13 209 3 186953808 . C T 2333.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.366;DP=209;Dels=0.00;FS=3.938;HRun=0;HaplotypeScore=4.8766;MQ=59.29;MQ0=0;MQRankSum=-0.649;QD=11.16;ReadPosRankSum=-1.423;VQSLOD=4.7045;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,93:209:99:2363,0,3331 3 186954285 186954285 A G exonic MASP1 synonymous SNV MASP1:NM_139125:exon11:c.T1374C:p.P458P 0.95 0.82 0.99 1. 1. 1. 0.9869 0.8609 0.9940 0.9997 1 0.9992 0.9901 0.9998 0.95 0.87 1. 0.98 0.89 rs710452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9899 0.8592 0.9938 0.9989 0.9999 0.9999 0.9993 0.9934 0.9998 0.9609 0.8638 0.9928 1 0.9994 0.9997 0.9997 0.9919 hom 7431.37 248 3 186954285 . A G 7431.37 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.690;DP=248;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6701;MQ=59.10;MQ0=0;MQRankSum=1.718;QD=29.97;ReadPosRankSum=0.484;VQSLOD=8.4891;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,247:248:99:7430,617,0 3 187088612 187088612 C T exonic RTP4 synonymous SNV RTP4:NM_022147:exon2:c.C192T:p.S64S 0.079 0.011 0.11 0.016 0.17 0.12 0.1259 0.0299 0.0765 0.0115 0.1305 0.1613 0.1393 0.1347 0.12 0.034 0.17 0.065 0.11 rs33927333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1247 0.0262 0.0813 0.1420 0.0111 0.1346 0.1629 0.1420 0.1309 0.1100 0.0267 0.0871 0.1192 0.0148 0.1398 0.1614 0.1344 het 1356.66 102 3 187088612 . C T 1356.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.485;DP=102;Dels=0.00;FS=2.715;HRun=0;HaplotypeScore=0.0000;MQ=58.73;MQ0=0;MQRankSum=1.159;QD=13.30;ReadPosRankSum=-1.424;VQSLOD=4.9318;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,53:102:99:1387,0,1198 3 187088812 187088812 C T exonic RTP4 nonsynonymous SNV RTP4:NM_022147:exon2:c.C392T:p.T131M 0.38 0.14 0.49 0.74 0.35 0.31 0.3825 0.1894 0.5776 0.6930 0.4055 0.3483 0.3947 0.3341 0.3 0.21 0.35 0.23 0.36 rs3821812 COSM3759922 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.297 0.146 T 0.23 0.289 B 0.031 0.206 B 0.000 0.005 N 1 0.090 P -0.69 0.019 N 1.94 0.227 T 1.36 0.009 N 0.053 0.035 -0.984 0.342 T 0.000 0.000 T . . . -1.224 0.024 0.006 0.393 0.027 0.002 0.012 N c -2.012 -2.104 1.000 0.747 0.563 0.310 0 -7.38 0.013 -1.352 0.027 -3.125 0.001 0.000 0.063 0.000 0.016 3.293 0.065 Zinc-binding domain ENSG00000136514.2|ENSG00000136514.2|ENSG00000136514.2 Adipose_Subcutaneous|Lung|Nerve_Tibial 0.3963 0.1871 0.5614 0.2805 0.7027 0.4164 0.3522 0.3673 0.3366 0.3430 0.1979 0.4880 0.2517 0.7137 0.4085 0.3644 0.3666 het 685.73 66 3 187088812 . C T 685.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DP=66;Dels=0.00;FS=3.466;HRun=0;HaplotypeScore=3.8772;MQ=59.34;MQ0=0;MQRankSum=-0.348;QD=10.39;ReadPosRankSum=2.185;VQSLOD=4.9581;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,26:66:99:716,0,1057 3 187088903 187088903 C A exonic RTP4 synonymous SNV RTP4:NM_022147:exon2:c.C483A:p.I161I 0.38 0.14 0.49 0.74 0.35 0.31 0.3822 0.1894 0.5764 0.6930 0.4053 0.3479 0.3916 0.3338 0.3 0.21 0.35 0.23 0.36 rs1533595 COSM3759923 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3962 0.1870 0.5609 0.2804 0.7026 0.4160 0.3522 0.3672 0.3366 0.3425 0.1980 0.4880 0.2517 0.7120 0.4088 0.3635 0.3666 het 752.36 81 3 187088903 . C A 752.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.308;DP=81;Dels=0.00;FS=12.059;HRun=0;HaplotypeScore=4.8544;MQ=60.00;MQ0=0;MQRankSum=-0.171;QD=9.29;ReadPosRankSum=-1.716;VQSLOD=2.5362;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,30:81:99:782,0,1482 3 187088926 187088926 G A exonic RTP4 nonsynonymous SNV RTP4:NM_022147:exon2:c.G506A:p.C169Y 0.8 0.61 0.87 0.96 0.82 0.84 0.8339 0.6686 0.9050 0.9572 0.8642 0.8285 0.8315 0.8336 0.78 0.68 0.82 0.76 0.88 rs1533594 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P 0.145 0.088 N 2.3 0.170 T 0.28 0.042 N 0.015 0.002 -0.956 0.400 T 0.000 0.000 T . . . -3.305 0.001 0.001 0.169 0.005 0.003 0.015 N c -2.236 -2.307 1.000 0.747 0.707 0.730 0 -8.16 0.009 -2.128 0.014 -0.593 0.044 0.000 0.063 0.000 0.016 0.759 0.009 . ENSG00000136514.2|ENSG00000136514.2 Nerve_Tibial|Stomach 0.8402 0.6639 0.8985 0.8412 0.9562 0.8611 0.8267 0.8344 0.8339 0.7960 0.6762 0.8711 0.8709 0.9486 0.8554 0.8265 0.8442 het 980.30 97 3 187088926 . G A 980.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.350;DP=97;Dels=0.00;FS=8.600;HRun=0;HaplotypeScore=0.5784;MQ=59.76;MQ0=0;MQRankSum=0.190;QD=10.11;ReadPosRankSum=-1.148;VQSLOD=4.4089;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,40:97:99:1010,0,1701 3 187089031 187089031 C A exonic RTP4 nonsynonymous SNV RTP4:NM_022147:exon2:c.C611A:p.A204D 0.29 0.035 0.45 0.45 0.34 0.29 0.3430 0.0893 0.5315 0.4229 0.3762 0.3421 0.3653 0.3170 0.26 0.1 0.35 0.13 0.35 rs1003995 COSM3759924 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.135 0.262 T 0.718 0.403 P 0.22 0.361 B . . . 1 0.090 P 0.975 0.246 L 2.12 0.197 T -0.55 0.168 N 0.072 0.061 -0.924 0.450 T 0.000 0.000 T . . . 3.453 0.473 23.0 0.982 0.382 0.041 0.094 N c -0.808 -0.943 0.990 0.319 0.707 0.730 0 0.673 0.170 0.088 0.147 0.025 0.148 0.000 0.063 0.000 0.016 3.525 0.073 . ENSG00000136514.2|ENSG00000136514.2|ENSG00000136514.2 Adipose_Subcutaneous|Lung|Nerve_Tibial 0.3559 0.0849 0.5176 0.2514 0.4259 0.3847 0.3482 0.3377 0.3192 0.2897 0.0932 0.4484 0.2219 0.4491 0.3769 0.3564 0.3306 het 1531.60 133 3 187089031 . C A 1531.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.435;DP=133;Dels=0.00;FS=2.236;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=1.082;QD=11.52;ReadPosRankSum=-1.232;VQSLOD=6.3956;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,62:133:99:1562,0,1955 3 187446211 187446211 C T exonic BCL6 nonsynonymous SNV BCL6:NM_001134738:exon5:c.G1477A:p.A493T,BCL6:NM_001130845:exon6:c.G1477A:p.A493T,BCL6:NM_001706:exon6:c.G1477A:p.A493T 0.19 0.41 0.13 0.078 0.14 0.08 0.1759 0.4386 0.1333 0.0867 0.1430 0.1674 0.1618 0.1126 0.24 0.4 0.15 0.21 0.12 rs2229362 COSM3759926 6(soft_tissue);1(large_intestine) not provided not_specified RCV000120204.1 MedGen CN169374 . . . . . . 0.423 0.097 T 0.0 0.112 B 0.0 0.040 B 0.013 0.290 N 1 0.090 P 0 0.065 N 3.13 0.084 T -0.01 0.072 N 0.063 0.054 -0.924 0.450 T 0.000 0.000 T . . . 0.367 0.129 6.324 0.908 0.195 0.219 0.214 N c -0.990 -0.942 1.000 0.517 0.707 0.730 0 -0.824 0.102 0.463 0.215 0.935 0.490 0.181 0.239 0.494 0.270 2.425 0.042 . . . 0.1418 0.4138 0.1050 0.1437 0.0717 0.1030 0.1472 0.1372 0.0981 0.2074 0.4119 0.1223 0.1291 0.0624 0.0996 0.1406 0.1344 het 111.91 19 3 187446211 . C T 111.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.132;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.044;QD=5.89;ReadPosRankSum=-0.307;VQSLOD=5.7917;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,6:19:99:142,0,355 3 187447032 187447032 G A exonic BCL6 synonymous SNV BCL6:NM_001134738:exon4:c.C1161T:p.N387N,BCL6:NM_001130845:exon5:c.C1161T:p.N387N,BCL6:NM_001706:exon5:c.C1161T:p.N387N 0.57 0.11 0.75 0.8 0.67 0.7 0.6435 0.1762 0.7858 0.8060 0.6882 0.6629 0.6938 0.6541 0.5 0.19 0.65 0.52 0.61 rs1056932 COSM5019038 1(breast);18(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6582 0.1674 0.7746 0.7003 0.7959 0.6948 0.6587 0.6811 0.6520 0.5310 0.1832 0.7482 0.7086 0.7937 0.6955 0.6432 0.6496 het 3102.16 250 3 187447032 . G A 3102.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.617;DP=250;DS;Dels=0.00;FS=0.991;HRun=0;HaplotypeScore=10.4219;MQ=58.95;MQ0=0;MQRankSum=0.896;QD=12.41;ReadPosRankSum=0.804;VQSLOD=4.3034;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,120:250:99:3132,0,3633 3 188327461 188327461 C T exonic LPP synonymous SNV LPP:NM_001167671:exon6:c.C942T:p.D314D,LPP:NM_005578:exon6:c.C942T:p.D314D 0.59 0.73 0.56 0.44 0.57 0.58 0.5843 0.6958 0.5530 0.4513 0.5886 0.5897 0.5839 0.5821 0.63 0.7 0.59 0.61 0.63 rs1059380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5774 0.7018 0.5378 0.4448 0.4570 0.5976 0.5961 0.5694 0.5874 0.6106 0.7017 0.5432 0.4267 0.4701 0.5994 0.5837 0.5963 hom 3056.47 100 3 188327461 . C T 3056.47 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.40;MQ0=0;QD=30.56;VQSLOD=8.7277;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3089,259,0 3 188590446 188590446 A G exonic LPP synonymous SNV LPP:NM_001167672:exon9:c.A1164G:p.R388R,LPP:NM_001167671:exon10:c.A1605G:p.R535R,LPP:NM_005578:exon10:c.A1605G:p.R535R 0.4 0.26 0.39 0.43 0.53 0.43 0.4733 0.2767 0.4136 0.4560 0.5733 0.5136 0.5121 0.4429 0.43 0.28 0.51 0.4 0.48 rs1136644 COSM4157499 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4752 0.2713 0.4137 0.4332 0.4513 0.5744 0.5176 0.4909 0.4423 0.4505 0.2744 0.4147 0.3960 0.4343 0.5832 0.5234 0.5010 hom 5308.20 176 3 188590446 . A G 5308.20 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7739;MQ=58.46;MQ0=0;QD=30.16;VQSLOD=7.4184;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5308,406,0 3 189713205 189713205 T C exonic P3H2 synonymous SNV P3H2:NM_018192:exon2:c.A507G:p.E169E 0.32 0.2 0.31 0.49 0.3 0.34 0.3353 0.2138 0.3261 0.4923 0.4208 0.3270 0.3201 0.3362 0.28 0.21 0.31 0.21 0.27 rs9821880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3358 0.2119 0.3234 0.2357 0.4937 0.4255 0.3223 0.3240 0.3406 0.3211 0.2092 0.3217 0.2649 0.4895 0.4307 0.3402 0.3763 hom 2267.20 72 3 189713205 . T C 2267.20 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9243;MQ=57.71;MQ0=0;QD=31.49;VQSLOD=7.6628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2300,178,0 3 190030680 190030680 A G exonic CLDN1 synonymous SNV CLDN1:NM_021101:exon2:c.T369C:p.G123G 0.81 0.75 0.8 0.82 0.86 0.84 0.8334 0.7692 0.7870 0.8234 0.8728 0.8505 0.8557 0.8250 0.82 0.77 0.85 0.81 0.84 rs9869263 . . Benign not_specified RCV000175932.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8323 0.7674 0.7825 0.8629 0.8236 0.8690 0.8488 0.8481 0.8246 0.8311 0.7744 0.7912 0.8079 0.8228 0.8782 0.8566 0.8306 het 2327.26 250 3 190030680 . A G 2327.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.564;DP=250;DS;Dels=0.00;FS=1.239;HRun=0;HaplotypeScore=2.9088;MQ=59.12;MQ0=0;MQRankSum=1.379;QD=9.31;ReadPosRankSum=-1.189;VQSLOD=6.0867;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:150,98:250:99:2357,0,4300 3 191179193 191179193 A G exonic PYDC2 nonsynonymous SNV PYDC2:NM_001083308:exon1:c.A242G:p.Q81R 0.63 0.75 0.63 0.42 0.73 0.58 0.6885 0.7573 0.6019 0.4094 0.7483 0.7445 0.6711 0.6048 0.75 0.78 0.74 0.69 0.76 rs293833 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 0.83 0.478 T 2.97 0.001 N 0.015 0.002 -0.958 0.396 T 0.000 0.000 T . . . -2.106 0.007 0.001 0.095 0.001 0.010 0.039 N c -1.275 -1.395 0.000 0.044 0.487 0.133 0 -0.631 0.109 -0.016 0.124 0.411 0.276 0.034 0.205 0.003 0.074 . . DAPIN domain|Death-like domain . . 0.6856 0.7564 0.6036 0.8060 0.4123 0.7393 0.7424 0.7119 0.6059 0.7270 0.7602 0.6396 0.7748 0.4106 0.7438 0.7412 0.7336 hom 7359.17 249 3 191179193 . A G 7359.17 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4189;MQ=59.30;MQ0=0;QD=29.44;VQSLOD=8.3426;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7358,593,0 3 192994543 192994543 A G exonic ATP13A5 nonsynonymous SNV ATP13A5:NM_198505:exon29:c.T3392C:p.V1131A 0.33 0.11 0.44 0.36 0.49 0.37 0.4362 0.1628 0.5358 0.3557 0.5011 0.4747 0.4689 0.3929 0.37 0.17 0.47 0.3 0.4 rs2271791 . . . . . . . . . . . . . 0.145 0.251 T 0.003 0.102 B 0.008 0.127 B 0.001 0.394 N 0.028 0.389 P 2.02 0.555 M 0.67 0.522 T -2.4 0.527 N 0.422 0.479 -0.932 0.439 T 0.000 0.000 T . . . 3.023 0.423 22.3 0.993 0.585 0.944 0.610 D c -0.153 0.056 0.033 0.141 0.487 0.133 0 5.43 0.789 3.150 0.501 1.199 0.960 1.000 0.715 1.000 0.888 13.743 0.622 . ENSG00000127252.4|ENSG00000127252.4|ENSG00000236508.1|ENSG00000127252.4|ENSG00000127252.4 Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.4406 0.1489 0.5137 0.4013 0.3548 0.4959 0.4780 0.4397 0.3906 0.3802 0.1528 0.4916 0.4007 0.3540 0.4948 0.4781 0.4449 het 556.69 56 3 192994543 . A G 556.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.847;DP=56;Dels=0.00;FS=1.075;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;MQRankSum=1.044;QD=9.94;ReadPosRankSum=-0.110;VQSLOD=6.4692;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,25:56:99:587,0,750 3 193031926 193031926 C T exonic ATP13A5 nonsynonymous SNV ATP13A5:NM_198505:exon19:c.G2215A:p.G739S 0.53 0.32 0.54 0.65 0.64 0.57 0.5967 0.3539 0.6120 0.6451 0.5711 0.6347 0.5837 0.5706 0.54 0.37 0.63 0.49 0.59 rs2280268 COSM1179815 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.633 0.051 T 0.053 0.211 B 0.07 0.264 B 0.018 0.276 N 1 0.090 P 0.585 0.154 N 0.44 0.566 T 0.08 0.060 N 0.04 0.020 -0.918 0.459 T 0.000 0.000 T . . . 2.053 0.308 16.55 0.868 0.163 0.101 0.155 N c -0.818 -0.711 0.018 0.130 0.526 0.212 0 3.11 0.347 0.248 0.178 0.071 0.179 0.000 0.063 0.329 0.242 5.398 0.155 HAD-like domain . . 0.5958 0.3508 0.6018 0.5448 0.6446 0.5610 0.6398 0.5914 0.5667 0.5375 0.3529 0.5911 0.5733 0.6438 0.5624 0.6224 0.5562 het 1891.36 179 3 193031926 . C T 1891.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.329;DP=179;Dels=0.00;FS=1.911;HRun=1;HaplotypeScore=6.4862;MQ=59.48;MQ0=0;MQRankSum=-1.022;QD=10.57;ReadPosRankSum=0.765;VQSLOD=4.3241;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:104,75:179:99:1921,0,2973 3 193036794 193036794 G C exonic ATP13A5 synonymous SNV ATP13A5:NM_198505:exon17:c.C2019G:p.V673V 0.9 0.93 0.84 0.98 0.82 0.88 0.8495 0.9148 0.8760 0.9865 0.7879 0.8190 0.8223 0.8676 0.85 0.91 0.82 0.91 0.8 rs6788770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8474 0.9176 0.8771 0.8015 0.9865 0.7848 0.8200 0.8355 0.8632 0.8424 0.9126 0.8508 0.8433 0.9802 0.7856 0.8028 0.7900 het 2712.86 212 3 193036794 . G C 2712.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.996;DP=212;Dels=0.00;FS=1.123;HRun=1;HaplotypeScore=10.6886;MQ=58.86;MQ0=0;MQRankSum=0.012;QD=12.80;ReadPosRankSum=-1.009;VQSLOD=3.3004;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,106:212:99:2743,0,2648 3 193080414 193080414 C G exonic ATP13A5 nonsynonymous SNV ATP13A5:NM_198505:exon4:c.G397C:p.E133Q 0.51 0.65 0.53 0.39 0.53 0.44 0.5117 0.6232 0.5080 0.4000 0.6015 0.5128 0.5730 0.4588 0.55 0.62 0.52 0.59 0.52 rs6797429 COSM5941199 1(skin) . . . . . . . . . . . 0.691 0.043 T 0.0 0.026 B 0.001 0.040 B 0.006 0.324 N 1 0.090 P -2.045 0.002 N 1.75 0.262 T 0.81 0.018 N 0.039 0.034 -0.995 0.314 T 0.000 0.000 T . . . 0.149 0.108 4.139 0.132 0.003 0.031 0.080 N c -0.781 -0.536 0.001 0.086 0.487 0.133 0 5.6 0.849 2.746 0.469 -0.240 0.092 1.000 0.715 0.029 0.146 13.352 0.599 . . . 0.5142 0.6252 0.5119 0.5437 0.3967 0.6084 0.5106 0.5209 0.4612 0.5544 0.6264 0.5276 0.5927 0.3738 0.5931 0.5242 0.5470 hom 6719.01 224 3 193080414 . C G 6719.01 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4775;MQ=59.42;MQ0=0;QD=30.00;VQSLOD=8.0066;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,224:224:99:6718,503,0 3 193171979 193171979 T A exonic ATP13A4 nonsynonymous SNV ATP13A4:NM_032279:exon17:c.A1938T:p.E646D 0.057 0.017 0.075 0.038 0.096 0.08 0.0855 0.0269 0.0452 0.0412 0.1024 0.1081 0.0969 0.0752 0.081 0.033 0.11 0.043 0.082 rs35424709 COSM5001976 1(pancreas) . . . . . . . . . . . 0.075 0.344 T 0.975 0.561 D 0.928 0.645 D 0.000 0.559 D 0.582 0.311 P 2.13 0.595 M -0.5 0.705 T -1.77 0.418 N 0.469 0.560 -0.752 0.579 T 0.017 0.070 T . . . 4.936 0.663 25.0 0.998 0.914 0.778 0.380 D c -0.011 -0.035 0.000 0.035 0.554 0.283 0 2.49 0.291 0.015 0.131 0.146 0.234 0.961 0.334 0.993 0.574 9.273 0.367 HAD-like domain|P-type ATPase\x2c cytoplasmic domain N . . 0.0858 0.0238 0.0474 0.0760 0.0431 0.1060 0.1112 0.0987 0.0763 0.0803 0.0255 0.0598 0.0695 0.0475 0.0979 0.1103 0.1204 het 1037.44 96 3 193171979 . T A 1037.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.092;DP=96;Dels=0.00;FS=1.712;HRun=0;HaplotypeScore=1.6208;MQ=58.88;MQ0=0;MQRankSum=-0.697;QD=10.81;ReadPosRankSum=-0.734;VQSLOD=5.5130;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,45:96:99:1067,0,1293 3 193334991 193334991 G A exonic OPA1 nonsynonymous SNV OPA1:NM_015560:exon4:c.G473A:p.S158N,OPA1:NM_130834:exon4:c.G473A:p.S158N,OPA1:NM_130836:exon4:c.G473A:p.S158N,OPA1:NM_130837:exon4:c.G473A:p.S158N 0.47 0.58 0.47 0.37 0.46 0.42 0.4683 0.5756 0.4157 0.3910 0.5577 0.4702 0.4703 0.4351 0.5 0.56 0.46 0.54 0.49 rs7624750 COSM446194 3(prostate) Benign|Benign not_specified|Optic_Atrophy\x2c_Dominant RCV000081768.7|RCV000339112.1 MedGen|MedGen CN169374|CN239213 . . . . . . 0.618 0.078 T 0.0 0.067 B 0.001 0.040 B 0.014 0.286 N 1.000 0.588 P 1.15 0.294 L -3.1 0.929 D -0.37 0.132 N 0.008 0.069 -0.930 0.442 T 0.000 0.000 T . . . 2.189 0.324 17.44 0.754 0.107 0.076 0.135 N c -0.133 -0.031 0.483 0.208 0.732 0.924 0 3.64 0.407 4.156 0.577 -0.109 0.115 1.000 0.715 0.951 0.427 6.409 0.207 . ENSG00000236297.1|ENSG00000127249.10|ENSG00000198836.4|ENSG00000236297.1|ENSG00000127249.10|ENSG00000127249.10|ENSG00000236297.1|ENSG00000127249.10|ENSG00000127249.10|ENSG00000236297.1|ENSG00000127249.10|ENSG00000127249.10|ENSG00000198836.4|ENSG00000127249.10 Brain_Caudate_basal_ganglia|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Ovary|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Testis|Testis|Whole_Blood 0.4683 0.5688 0.4206 0.4685 0.3964 0.5786 0.4675 0.4596 0.4354 0.5118 0.5613 0.4499 0.4536 0.4340 0.5686 0.4843 0.4908 het 420.60 59 3 193334991 . G A 420.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.004;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;MQRankSum=-0.914;QD=7.13;ReadPosRankSum=-1.704;VQSLOD=4.7555;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,18:59:99:451,0,1018 3 193374964 193374964 T C exonic OPA1 synonymous SNV OPA1:NM_130831:exon20:c.T2001C:p.A667A,OPA1:NM_015560:exon21:c.T2109C:p.A703A,OPA1:NM_130832:exon21:c.T2055C:p.A685A,OPA1:NM_130833:exon21:c.T2112C:p.A704A,OPA1:NM_130834:exon22:c.T2163C:p.A721A,OPA1:NM_130835:exon22:c.T2166C:p.A722A,OPA1:NM_130836:exon22:c.T2220C:p.A740A,OPA1:NM_130837:exon23:c.T2274C:p.A758A 0.47 0.59 0.47 0.36 0.46 0.43 0.4668 0.5734 0.4156 0.3773 0.5531 0.4700 0.4670 0.4349 0.5 0.56 0.46 0.54 0.52 rs9851685 COSM4417049 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Optic_Atrophy\x2c_Dominant RCV000081757.7|RCV000284298.1 MedGen|MedGen CN169374|CN239213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4675 0.5679 0.4212 0.4762 0.3843 0.5755 0.4673 0.4587 0.4360 0.5098 0.5584 0.4498 0.4603 0.4220 0.5659 0.4836 0.4877 het 1428.53 115 3 193374964 . T C 1428.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.340;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5929;MQ=58.98;MQ0=0;MQRankSum=-0.843;QD=12.42;ReadPosRankSum=-0.553;VQSLOD=6.2300;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,60:115:99:1459,0,1491 3 194061826 194061826 C T exonic CPN2 nonsynonymous SNV CPN2:NM_001080513:exon2:c.G1606A:p.V536M,CPN2:NM_001291988:exon2:c.G1606A:p.V536M 0.28 0.17 0.24 0.32 0.31 0.4 0.2944 0.1876 0.2082 0.3431 0.3598 0.2836 0.3060 0.4151 0.25 0.19 0.28 0.28 0.26 rs11711157 COSM4157509 1(breast);1(liver);1(thyroid);1(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.004 0.654 D 0.918 0.488 P 0.063 0.256 B 0.083 0.208 N 0.775 0.294 P 1.59 0.404 L 0.38 0.576 T -0.71 0.202 N 0.084 0.146 -0.961 0.390 T 0.000 0.000 T . . . 1.830 0.281 15.16 0.998 0.858 0.648 0.323 D c -0.407 -0.411 1.000 0.407 0.497 0.185 0 2.79 0.317 0.528 0.225 0.065 0.171 0.176 0.238 0.012 0.117 10.235 0.423 . ENSG00000172061.7 Artery_Tibial 0.2892 0.1762 0.2032 0.3335 0.3391 0.3548 0.2760 0.2836 0.3988 0.2626 0.1776 0.2076 0.3013 0.3243 0.3629 0.2819 0.2994 het 539.83 42 3 194061826 . C T 539.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DP=42;Dels=0.00;FS=2.928;HRun=0;HaplotypeScore=0.9159;MQ=58.44;MQ0=0;MQRankSum=1.096;QD=12.85;ReadPosRankSum=-0.013;VQSLOD=5.9221;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,22:42:99:570,0,490 3 194061906 194061906 T C exonic CPN2 nonsynonymous SNV CPN2:NM_001080513:exon2:c.A1526G:p.Q509R,CPN2:NM_001291988:exon2:c.A1526G:p.Q509R 0.81 0.87 0.84 0.81 0.82 0.71 0.8171 0.8610 0.8294 0.8323 0.8603 0.8243 0.7973 0.7284 0.83 0.85 0.82 0.5 0.74 rs4974538 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.975 0.002 N 0.84 0.475 T 0.34 0.038 N 0.016 0.089 -0.959 0.393 T 0.000 0.000 T . . . -2.300 0.005 0.001 0.479 0.039 0.014 0.047 N c -1.503 -1.392 0.999 0.387 0.497 0.185 0 2.61 0.301 0.755 0.259 -0.441 0.057 0.052 0.213 0.003 0.074 2.146 0.035 . . . 0.8179 0.8616 0.8296 0.8000 0.8344 0.8618 0.8240 0.8086 0.7278 0.8345 0.8545 0.8210 0.8013 0.8284 0.8615 0.8191 0.8272 hom 1918.54 58 3 194061906 . T C 1918.54 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=60.00;MQ0=0;QD=33.08;VQSLOD=8.7757;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1952,153,0 3 194061907 194061907 G A exonic CPN2 stopgain CPN2:NM_001080513:exon2:c.C1525T:p.Q509X,CPN2:NM_001291988:exon2:c.C1525T:p.Q509X 0.28 0.23 0.24 0.38 0.35 0.2 0.3331 0.2672 0.1901 0.3856 0.3400 0.3974 0.3183 0.1878 0.34 0.27 0.38 . 0.36 rs4974539 COSM4157510 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 5.126 0.691 25.4 0.899 0.187 0.094 0.150 N c -0.432 -0.822 1.000 0.448 0.497 0.185 0 -4.38 0.034 -0.043 0.119 -1.201 0.016 0.002 0.151 0.004 0.083 13.673 0.618 . . . 0.3259 0.2682 0.2049 0.3510 0.3899 0.3309 0.3948 0.3339 0.1895 0.3424 0.2644 0.2333 0.3709 0.3881 0.3315 0.3894 0.3643 het 672.81 58 3 194061907 . G A 672.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.614;DP=58;Dels=0.00;FS=3.858;HRun=1;HaplotypeScore=1.9957;MQ=60.00;MQ0=0;MQRankSum=-1.802;QD=11.60;ReadPosRankSum=-0.493;VQSLOD=4.4995;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,24:58:99:703,0,855 3 194062519 194062519 C T exonic CPN2 nonsynonymous SNV CPN2:NM_001080513:exon2:c.G913A:p.A305T,CPN2:NM_001291988:exon2:c.G913A:p.A305T 0.37 0.46 0.28 0.32 0.31 0.41 0.3145 0.4268 0.2215 0.3444 0.3564 0.2823 0.3167 0.4065 0.33 0.41 0.28 0.39 0.25 rs3732477 . . . . . . . . . . . . . 0.301 0.144 T 0.017 0.163 B 0.009 0.133 B 0.339 0.042 N 1 0.090 P 0.375 0.121 N 0.34 0.582 T 0.22 0.047 N 0.025 0.013 -0.998 0.304 T 0.000 0.000 T . . . -0.786 0.041 0.046 0.604 0.063 0.092 0.148 N c -1.777 -1.881 1.000 0.747 0.603 0.348 0 -10.6 0.002 -0.784 0.047 -1.213 0.015 0.000 0.063 0.000 0.016 13.970 0.636 Leucine-rich repeat domain\x2c L domain-like ENSG00000230266.1 Thyroid 0.3103 0.4313 0.2181 0.3437 0.3397 0.3555 0.2794 0.2960 0.4053 0.3349 0.4276 0.2249 0.3212 0.3238 0.3628 0.2840 0.3047 het 1189.25 89 3 194062519 . C T 1189.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.554;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0962;MQ=59.16;MQ0=0;MQRankSum=0.808;QD=13.36;ReadPosRankSum=2.072;VQSLOD=5.5418;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,45:89:99:1219,0,1106 3 194062565 194062565 C T exonic CPN2 synonymous SNV CPN2:NM_001080513:exon2:c.G867A:p.P289P,CPN2:NM_001291988:exon2:c.G867A:p.P289P 0.63 0.61 0.5 0.7 0.67 0.62 0.6405 0.6250 0.4078 0.7243 0.6942 0.6775 0.6220 0.5989 0.65 0.62 0.67 0.74 0.64 rs3732476 COSM4157511 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6312 0.6207 0.4196 0.6833 0.7259 0.6866 0.6749 0.6271 0.5996 0.6568 0.6197 0.4532 0.6722 0.7126 0.6946 0.6738 0.6691 hom 2357.83 75 3 194062565 . C T 2357.83 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.88;MQ0=0;QD=31.44;VQSLOD=8.6677;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2391,196,0 3 194063153 194063153 G A exonic CPN2 synonymous SNV CPN2:NM_001080513:exon2:c.C279T:p.F93F,CPN2:NM_001291988:exon2:c.C279T:p.F93F 0.26 0.16 0.22 0.38 0.35 0.2 0.3244 0.1998 0.1863 0.3785 0.3378 0.3939 0.3042 0.1865 0.32 0.21 0.38 0.34 0.36 rs3732474 COSM3759940 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3192 0.1907 0.2014 0.3374 0.3835 0.3307 0.3941 0.3274 0.1882 0.3220 0.1931 0.2309 0.3510 0.3869 0.3315 0.3899 0.3582 het 2560.21 179 3 194063153 . G A 2560.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.828;DP=179;Dels=0.00;FS=2.633;HRun=2;HaplotypeScore=12.0263;MQ=59.13;MQ0=0;MQRankSum=2.245;QD=14.30;ReadPosRankSum=-0.903;VQSLOD=2.3879;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,93:179:99:2590,0,2217 3 194063300 194063300 T C exonic CPN2 synonymous SNV CPN2:NM_001080513:exon2:c.A132G:p.P44P,CPN2:NM_001291988:exon2:c.A132G:p.P44P 0.78 0.83 0.69 0.79 0.82 0.71 0.7973 0.8321 0.6822 0.8001 0.8595 0.8234 0.7848 0.7243 0.82 0.82 0.82 0.89 0.76 rs62288099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7938 0.8314 0.6939 0.7981 0.7990 0.8618 0.8238 0.7869 0.7234 0.8199 0.8223 0.7220 0.8013 0.7824 0.8615 0.8186 0.8227 hom 5006.27 172 3 194063300 . T C 5006.27 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0966;MQ=58.67;MQ0=0;QD=29.11;VQSLOD=3.6364;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5005,442,0 3 194080336 194080336 G A exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.C1437T:p.P479P,LRRC15:NM_001135057:exon3:c.C1455T:p.P485P 0.15 0.17 0.14 0.069 0.24 0.12 0.2139 0.1691 0.1118 0.0554 0.2937 0.2728 0.2267 0.1253 0.23 0.17 0.26 0.21 0.24 rs4974533 COSM1178304;COSM3759941 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2050 0.1629 0.1123 0.2223 0.0519 0.2776 0.2681 0.2155 0.1252 0.2319 0.1758 0.1122 0.2252 0.0502 0.2840 0.2768 0.2637 het 715.97 45 3 194080336 . G A 715.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.553;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;MQRankSum=-2.067;QD=15.91;ReadPosRankSum=0.086;VQSLOD=5.4873;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,25:45:99:746,0,533 3 194080648 194080648 G A exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.C1125T:p.N375N,LRRC15:NM_001135057:exon3:c.C1143T:p.N381N 0.15 0.16 0.14 0.069 0.24 0.12 0.2114 0.1637 0.1100 0.0540 0.2911 0.2702 0.2262 0.1243 0.23 0.17 0.26 0.21 0.24 rs9682540 COSM3759942;COSM3759943 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2044 0.1588 0.1115 0.2220 0.0517 0.2781 0.2673 0.2149 0.1252 0.2300 0.1703 0.1112 0.2252 0.05 0.2836 0.2764 0.2612 het 937.52 75 3 194080648 . G A 937.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.004;DP=75;Dels=0.00;FS=4.468;HRun=0;HaplotypeScore=0.0000;MQ=58.88;MQ0=0;MQRankSum=-1.192;QD=12.50;ReadPosRankSum=-1.160;VQSLOD=4.4728;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,37:75:99:968,0,995 3 194080696 194080696 G A exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.C1077T:p.N359N,LRRC15:NM_001135057:exon3:c.C1095T:p.N365N 0.12 0.093 0.11 0.069 0.21 0.11 0.1869 0.0959 0.0940 0.0538 0.2597 0.2480 0.1991 0.1026 0.19 0.098 0.23 0.15 0.25 rs9682541 COSM3759945;COSM3759944 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1805 0.0921 0.0942 0.1968 0.0513 0.2497 0.2439 0.1922 0.1035 0.1944 0.0972 0.0943 0.2053 0.0495 0.2599 0.2544 0.2321 het 1130.84 74 3 194080696 . G A 1130.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.356;DP=74;Dels=0.00;FS=8.096;HRun=0;HaplotypeScore=3.3227;MQ=58.87;MQ0=0;MQRankSum=-1.008;QD=15.28;ReadPosRankSum=0.164;VQSLOD=3.7193;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,43:74:99:1161,0,841 3 194080916 194080916 G A exonic LRRC15 nonsynonymous SNV LRRC15:NM_130830:exon2:c.C857T:p.P286L,LRRC15:NM_001135057:exon3:c.C875T:p.P292L 0.12 0.093 0.11 0.069 0.21 0.11 0.1874 0.0965 0.0937 0.0537 0.2589 0.2479 0.1991 0.1062 0.19 0.098 0.23 0.15 0.24 rs13070515 COSM3759947;COSM3759946 1(large_intestine) . . . . . . . . . . . 0.016 0.518 D 0.999 0.899 D 0.948 0.722 D . . . 0.000 0.588 P 1.785 0.466 L 2.83 0.108 T -2.99 0.626 D 0.308 0.451 -1.102 0.038 T 0.000 0.000 T . . . 5.107 0.688 25.3 0.999 0.958 0.982 0.799 D c 0.677 0.616 1.000 0.747 0.554 0.283 0 5.15 0.702 4.789 0.619 1.048 0.713 1.000 0.715 0.473 0.266 15.376 0.742 Leucine-rich repeat domain\x2c L domain-like ENSG00000178772.6 Thyroid 0.1810 0.0921 0.0940 0.1970 0.0512 0.2497 0.2440 0.1926 0.1073 0.1941 0.0970 0.0943 0.2053 0.0488 0.2602 0.2540 0.2306 het 1731.08 89 3 194080916 . G A 1731.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.200;DP=89;Dels=0.00;FS=4.347;HRun=0;HaplotypeScore=0.9665;MQ=59.48;MQ0=0;MQRankSum=1.185;QD=19.45;ReadPosRankSum=2.877;VQSLOD=3.2222;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,59:89:99:1761,0,730 3 194080983 194080983 C T exonic LRRC15 nonsynonymous SNV LRRC15:NM_130830:exon2:c.G790A:p.V264I,LRRC15:NM_001135057:exon3:c.G808A:p.V270I 0.16 0.19 0.14 0.069 0.24 0.13 0.2147 0.1958 0.1110 0.0540 0.2900 0.2702 0.2251 0.1285 0.24 0.2 0.26 0.24 0.23 rs13060627 COSM3759948;COSM3759949 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P 0.025 0.080 N 1.86 0.243 T 0.32 0.040 N 0.037 0.025 -0.956 0.400 T 0.000 0.000 T . . . -0.195 0.076 1.123 0.138 0.003 0.128 0.173 N c -0.641 -0.453 0.311 0.193 0.497 0.185 0 3.91 0.442 0.425 0.209 0.154 0.240 0.968 0.339 0.979 0.486 6.894 0.233 Leucine-rich repeat domain\x2c L domain-like ENSG00000172061.7|ENSG00000178772.6 Lung|Thyroid 0.2069 0.1884 0.1127 0.2216 0.0517 0.2780 0.2673 0.2158 0.1294 0.2385 0.1992 0.1134 0.2252 0.0499 0.2838 0.2768 0.2637 het 1215.51 95 3 194080983 . C T 1215.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.053;DP=95;Dels=0.00;FS=3.883;HRun=0;HaplotypeScore=0.9578;MQ=59.76;MQ0=0;MQRankSum=-1.135;QD=12.79;ReadPosRankSum=-1.529;VQSLOD=4.9900;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,46:95:99:1246,0,1308 3 194081089 194081089 C T exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.G684A:p.L228L,LRRC15:NM_001135057:exon3:c.G702A:p.L234L 0.15 0.16 0.14 0.069 0.24 0.12 0.2112 0.1636 0.1095 0.0541 0.2898 0.2700 0.2252 0.1243 0.23 0.17 0.26 0.21 0.25 rs11713861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2043 0.1589 0.1114 0.2218 0.0518 0.2781 0.2672 0.2148 0.1253 0.2297 0.1705 0.1122 0.2252 0.0506 0.2835 0.2757 0.2613 het 3110.54 223 3 194081089 . C T 3110.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.933;DP=223;Dels=0.00;FS=1.092;HRun=0;HaplotypeScore=8.3549;MQ=59.81;MQ0=0;MQRankSum=-0.358;QD=13.95;ReadPosRankSum=-1.013;VQSLOD=3.4913;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,125:223:99:3141,0,2640 3 194081179 194081179 G A exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.C594T:p.N198N,LRRC15:NM_001135057:exon3:c.C612T:p.N204N 0.12 0.093 0.11 0.069 0.21 0.11 0.1870 0.0956 0.0937 0.0534 0.2586 0.2475 0.1982 0.1061 0.19 0.098 0.23 0.15 0.24 rs11715737 COSM3759951;COSM3759950 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1809 0.0920 0.0940 0.1970 0.0511 0.2496 0.2438 0.1924 0.1072 0.1934 0.0966 0.0943 0.2053 0.0471 0.2599 0.2530 0.2311 het 4616.26 250 3 194081179 . G A 4616.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.237;DP=250;DS;Dels=0.00;FS=0.475;HRun=0;HaplotypeScore=8.3792;MQ=59.18;MQ0=0;MQRankSum=0.154;QD=18.47;ReadPosRankSum=0.443;VQSLOD=2.9113;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,143:250:99:3944,0,2934 3 194081392 194081392 G A exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.C381T:p.L127L,LRRC15:NM_001135057:exon3:c.C399T:p.L133L 0.12 0.093 0.11 0.069 0.21 0.11 0.1863 0.0956 0.0935 0.0534 0.2585 0.2463 0.1991 0.1061 0.19 0.098 0.23 0.15 0.24 rs923936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1799 0.0916 0.0937 0.1947 0.0511 0.2495 0.2421 0.1915 0.1072 0.1928 0.0965 0.0921 0.2053 0.0494 0.2600 0.2517 0.2301 het 1517 114 3 194081392 . G A 1517 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.038;DP=114;Dels=0.00;FS=4.911;HRun=1;HaplotypeScore=2.2633;MQ=59.27;MQ0=0;MQRankSum=-0.705;QD=13.31;ReadPosRankSum=-1.315;VQSLOD=4.7155;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,53:114:99:1547,0,1713 3 194081635 194081635 T C exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.A138G:p.A46A,LRRC15:NM_001135057:exon3:c.A156G:p.A52A 0.15 0.16 0.14 0.069 0.24 0.12 0.2162 0.1649 0.1101 0.0544 0.2970 0.2728 0.2336 0.1356 0.23 0.17 0.26 0.21 0.24 rs923935 COSM3759953;COSM3759952 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2026 0.1589 0.1110 0.2200 0.0517 0.2798 0.2663 0.2126 0.1240 0.2300 0.1705 0.1122 0.2252 0.05 0.2836 0.2763 0.2603 het 741.75 62 3 194081635 . T C 741.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.520;DP=62;Dels=0.00;FS=2.318;HRun=1;HaplotypeScore=4.8218;MQ=59.40;MQ0=0;MQRankSum=0.036;QD=11.96;ReadPosRankSum=-0.339;VQSLOD=4.8900;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:32,29:62:99:772,0,965 3 194118874 194118874 T C exonic GP5 synonymous SNV GP5:NM_004488:exon2:c.A138G:p.L46L 0.99 0.99 0.99 1. 0.96 1. 0.9704 0.9909 0.9906 0.9998 0.9709 0.9537 0.9740 0.9939 0.97 0.99 0.95 0.97 0.93 rs1223989 COSM3759956;COSM3759957 5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9716 0.9919 0.9899 0.9855 0.9999 0.9702 0.9514 0.9745 0.9938 0.9704 0.9927 0.9928 0.9967 1 0.9768 0.9513 0.9654 hom 3161.52 90 3 194118874 . T C 3161.52 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=35.13;VQSLOD=8.7981;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3195,256,0 3 194349178 194349178 C T exonic TMEM44 synonymous SNV TMEM44:NM_001011655:exon2:c.G198A:p.A66A,TMEM44:NM_001166305:exon2:c.G198A:p.A66A,TMEM44:NM_001166306:exon2:c.G198A:p.A66A,TMEM44:NM_138399:exon2:c.G198A:p.A66A 0.35 0.25 0.3 0.44 0.33 0.43 0.3713 0.2705 0.2944 0.4873 0.4394 0.3534 0.4429 0.4645 0.31 0.25 0.34 0.32 0.26 rs1563970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3589 0.2515 0.2790 0.4032 0.4798 0.4301 0.3344 0.3526 0.4556 0.3288 0.2537 0.2692 0.4205 0.4950 0.4249 0.3316 0.3595 het 359.42 35 3 194349178 . C T 359.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DP=35;Dels=0.00;FS=14.361;HRun=0;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;MQRankSum=1.604;QD=10.27;ReadPosRankSum=0.983;VQSLOD=3.5005;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,16:35:99:389,0,491 3 194373832 194373832 T C exonic LSG1 nonsynonymous SNV LSG1:NM_018385:exon8:c.A799G:p.K267E 0.63 0.33 0.63 0.87 0.7 0.75 0.6770 0.3852 0.5733 0.8669 0.7756 0.6902 0.6976 0.7406 0.59 0.4 0.68 . 0.67 rs1675953 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.619 0.108 N 1 0.090 P -2.085 0.002 N 0.98 0.421 T 1.65 0.006 N 0.051 0.032 -0.952 0.406 T 0.000 0.000 T . . . -0.438 0.059 0.313 0.659 0.077 0.000 0.003 N c -1.328 -1.200 0.188 0.180 0.707 0.730 0 4.34 0.511 0.618 0.239 0.016 0.142 0.015 0.189 0.043 0.159 8.577 0.326 Circularly permuted (CP)-type guanine nucleotide-binding (G) domain . . 0.6799 0.3803 0.5797 0.6679 0.8699 0.7770 0.6871 0.6729 0.7407 0.6259 0.3899 0.5974 0.6267 0.8850 0.7734 0.6978 0.6957 het 1884.57 166 3 194373832 . T C 1884.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.774;DP=166;Dels=0.00;FS=1.225;HRun=0;HaplotypeScore=4.9745;MQ=58.77;MQ0=0;MQRankSum=-0.197;QD=11.35;ReadPosRankSum=-0.015;VQSLOD=5.2903;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,74:166:99:1915,0,2372 3 194373833 194373833 G A exonic LSG1 synonymous SNV LSG1:NM_018385:exon8:c.C798T:p.T266T 0.63 0.33 0.63 0.87 0.7 0.75 0.6765 0.3847 0.5726 0.8669 0.7756 0.6900 0.6954 0.7384 0.59 0.4 0.68 . 0.67 rs1705991 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6794 0.3797 0.5792 0.6676 0.8698 0.7769 0.6869 0.6718 0.7383 0.6260 0.3896 0.5988 0.6267 0.8839 0.7734 0.6980 0.6957 het 1802.87 165 3 194373833 . G A 1802.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.597;DP=165;Dels=0.00;FS=0.577;HRun=0;HaplotypeScore=4.9745;MQ=58.76;MQ0=0;MQRankSum=-0.034;QD=10.93;ReadPosRankSum=0.195;VQSLOD=5.3502;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,73:165:99:1833,0,2422 3 194387300 194387300 C T exonic LSG1 synonymous SNV LSG1:NM_018385:exon3:c.G228A:p.E76E 0.43 0.26 0.45 0.44 0.53 0.51 0.4785 0.2963 0.3676 0.3876 0.4909 0.5294 0.4537 0.5064 0.45 0.3 0.53 0.37 0.52 rs1675943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4754 0.2923 0.3809 0.4988 0.3896 0.4841 0.5293 0.4948 0.5034 0.4488 0.3019 0.4137 0.4832 0.3883 0.4796 0.5317 0.4990 het 998.59 82 3 194387300 . C T 998.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.753;DP=82;Dels=0.00;FS=7.661;HRun=3;HaplotypeScore=1.9092;MQ=59.72;MQ0=0;MQRankSum=-1.039;QD=12.18;ReadPosRankSum=1.039;VQSLOD=4.4874;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,41:82:99:1029,0,1061 3 194408704 194408704 A G exonic FAM43A synonymous SNV FAM43A:NM_153690:exon1:c.A1149G:p.S383S 0.71 0.81 0.63 0.77 0.63 0.68 0.6559 0.7829 0.5777 0.7845 0.7243 0.6269 0.6897 0.6686 0.7 0.8 0.65 0.25 0.48 rs4677673 COSM1566494 4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6438 0.7772 0.5619 0.6958 0.7799 0.6992 0.6088 0.6448 0.6449 0.6923 0.7975 0.5637 0.7067 0.8050 0.6943 0.6290 0.6355 het 349.18 23 3 194408704 . A G 349.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.228;DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.850;QD=15.18;ReadPosRankSum=-1.543;VQSLOD=10.7426;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,14:23:99:379,0,214 3 195453064 195453064 T G exonic MUC20 synonymous SNV MUC20:NM_001282506:exon2:c.T1590G:p.L530L,MUC20:NM_001291833:exon4:c.T1077G:p.L359L,MUC20:NM_020790:exon4:c.T1134G:p.L378L,MUC20:NM_152673:exon4:c.T1077G:p.L359L . . . . . . 0.8209 0.9715 0.6985 0.8212 0.7891 0.8489 0.8243 0.7162 0.88 0.97 0.84 0.88 . rs2550233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8134 0.9728 0.7064 0.8678 0.8267 0.7990 0.8457 0.8278 0.7165 0.8572 0.9695 0.7342 0.8759 0.8026 0.7963 0.8215 0.8018 hom 1411.36 52 3 195453064 . T G 1411.36 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7843;MQ=45.51;MQ0=6;QD=27.14;VQSLOD=2.5592;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1444,108,0 3 195475799 195475799 C T exonic MUC4 synonymous SNV MUC4:NM_138297:exon22:c.G3147A:p.Q1049Q,MUC4:NM_004532:exon23:c.G3300A:p.Q1100Q,MUC4:NM_018406:exon24:c.G16008A:p.Q5336Q 0.053 0.015 0.072 0.001 0.14 0.057 0.0919 0.0325 0.0628 0.0004 0.0848 0.1258 0.1095 0.0622 0.094 0.029 0.13 0.087 0.11 rs3205933 COSM1566491;COSM1566490;COSM1566492 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0879 0.0251 0.0636 0.2226 0.0006 0.0809 0.1149 0.1135 0.0532 0.0744 0.0234 0.0831 0.26 0 0.0868 0.1043 0.0885 het 1505.31 130 3 195475799 . C T 1505.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.139;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6087;MQ=59.82;MQ0=0;MQRankSum=-0.262;QD=11.58;ReadPosRankSum=0.874;VQSLOD=5.1428;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,59:130:99:1535,0,2051 3 195477786 195477786 C T exonic MUC4 nonsynonymous SNV MUC4:NM_138297:exon21:c.G2984A:p.G995E,MUC4:NM_004532:exon22:c.G3137A:p.G1046E,MUC4:NM_018406:exon23:c.G15845A:p.G5282E 0.06 0.035 0.076 0.001 0.15 0.057 0.0960 0.0430 0.0645 0.0005 0.0869 0.1313 0.1208 0.0617 0.1 0.039 0.13 0.043 0.16 rs6808605 COSM4157522;COSM4157523;COSM4157524 1(thyroid) . . . . . . . . . . . 0.046 0.405 D 0.011 0.309 B 0.002 0.266 B 0.015 0.285 N 1 0.090 P 0 0.065 N 1.28 0.360 T 0.73 0.066 N 0.111 0.184 -1.008 0.274 T 0.000 0.002 T . . . 1.842 0.282 15.23 0.792 0.122 0.050 0.107 N c -1.195 -1.167 0.000 0.029 0.554 0.283 0 1.33 0.209 -0.099 0.109 -0.343 0.071 0.008 0.178 0.072 0.177 7.681 0.275 . ENSG00000224769.1|ENSG00000242086.4 Esophagus_Mucosa|Thyroid 0.0997 0.0369 0.0782 0.2601 0.0006 0.0908 0.1272 0.1304 0.0601 0.0830 0.0355 0.0827 0.2914 0 0.0926 0.1122 0.0992 hom 4926.68 155 3 195477786 . C T 4926.68 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=54.96;MQ0=0;QD=31.79;VQSLOD=6.1519;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4926,382,0 3 195479256 195479256 T C exonic MUC4 synonymous SNV MUC4:NM_138297:exon19:c.A2709G:p.E903E,MUC4:NM_004532:exon20:c.A2862G:p.E954E,MUC4:NM_018406:exon21:c.A15570G:p.E5190E 0.81 0.65 0.93 0.82 0.93 0.82 0.8813 0.6766 0.9571 0.8062 0.8743 0.9227 0.8976 0.8313 0.84 0.68 0.92 0.77 0.84 rs2258447 COSM4157530;COSM4157529;COSM4157528 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8866 0.6693 0.9558 0.9328 0.8123 0.8770 0.9191 0.9121 0.8305 0.8394 0.6869 0.9463 0.9238 0.7825 0.8838 0.9128 0.8885 hom 4151.14 129 3 195479256 . T C 4151.14 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;QD=32.18;VQSLOD=9.0173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4151,316,0 3 195489067 195489067 C G exonic MUC4 synonymous SNV MUC4:NM_138297:exon12:c.G1542C:p.S514S,MUC4:NM_004532:exon13:c.G1695C:p.S565S,MUC4:NM_018406:exon14:c.G14403C:p.S4801S 0.42 0.15 0.41 0.76 0.45 0.42 0.4927 0.2287 0.4729 0.7340 0.5501 0.5094 0.5156 0.4350 0.37 0.21 0.46 0.34 0.25 rs2246980 COSM1421869;COSM1421868;COSM1421867 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4609 0.1830 0.4218 0.5533 0.7371 0.5333 0.4550 0.4646 0.4167 0.4027 0.1945 0.4332 0.5629 0.7264 0.5370 0.4487 0.4569 het 62.68 17 3 195489067 . C G 62.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.302;QD=3.69;ReadPosRankSum=-0.510;VQSLOD=8.7746;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,4:17:92.68:93,0,370 3 195497174 195497174 C G exonic MUC4 nonsynonymous SNV MUC4:NM_138297:exon4:c.G450C:p.M150I,MUC4:NM_004532:exon5:c.G603C:p.M201I,MUC4:NM_018406:exon6:c.G13311C:p.M4437I 0.83 0.99 0.71 0.82 0.84 0.68 0.7996 0.9697 0.6389 0.8066 0.7697 0.8327 0.8086 0.6791 0.87 0.96 0.82 0.87 0.8 rs2259102 . . . . . . . . . . . . . 0.357 0.120 T 0.003 0.102 B 0.0 0.013 B 0.244 0.156 N 1 0.090 P 0 0.065 N 1.24 0.367 T 0.28 0.065 N 0.014 0.080 -1.060 0.118 T 0.000 0.000 T . . . -0.767 0.042 0.051 0.382 0.026 0.001 0.008 N c -1.505 -1.497 0.000 0.057 0.403 0.052 0 -1.59 0.080 -0.817 0.045 -0.261 0.088 0.000 0.063 0.003 0.074 2.155 0.035 NIDO domain ENSG00000145113.17|ENSG00000185485.10|ENSG00000176945.12|ENSG00000145113.17|ENSG00000176945.12|ENSG00000185485.10|ENSG00000185485.10|ENSG00000145113.17|ENSG00000145113.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.7902 0.9692 0.6485 0.8502 0.8151 0.7793 0.8302 0.8051 0.6832 0.8402 0.9675 0.7005 0.8411 0.7887 0.7780 0.7975 0.7807 hom 1934.41 58 3 195497174 . C G 1934.41 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.673;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=59.60;MQ0=0;MQRankSum=0.119;QD=33.35;ReadPosRankSum=0.299;VQSLOD=8.9361;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,57:58:99:1967,153,0 3 195501149 195501149 C T exonic MUC4 nonsynonymous SNV MUC4:NM_138297:exon2:c.G110A:p.G37D,MUC4:NM_004532:exon3:c.G263A:p.G88D,MUC4:NM_018406:exon4:c.G12971A:p.G4324D 0.59 0.56 0.51 0.76 0.58 0.51 0.5856 0.5712 0.5014 0.7323 0.6101 0.5915 0.5962 0.5324 0.58 0.59 0.58 0.52 0.54 rs2259292 COSM3759976;COSM3759975;COSM3759974 1(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.667 0.046 T 0.478 0.348 P 0.125 0.310 B 0.098 0.025 N 1 0.090 P 0.895 0.225 L 1.19 0.376 T 0.21 0.053 N 0.123 0.477 -0.934 0.435 T 0.000 0.000 T . . . 1.751 0.271 14.70 0.819 0.134 0.013 0.044 N c -1.252 -1.298 0.079 0.158 0.534 0.214 0 -2.14 0.067 -1.792 0.018 0.017 0.142 0.000 0.063 0.000 0.016 0.199 0.001 . ENSG00000224769.1|ENSG00000185485.10|ENSG00000271662.1|ENSG00000145113.17|ENSG00000224769.1|ENSG00000145113.17|ENSG00000229178.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000272792.1|ENSG00000271662.1|ENSG00000224769.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000272792.1|ENSG00000242086.4|ENSG00000224769.1|ENSG00000272792.1|ENSG00000224769.1|ENSG00000224769.1|ENSG00000242086.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.5865 0.5717 0.5138 0.6748 0.7447 0.6211 0.5899 0.5948 0.5142 0.5740 0.5623 0.5203 0.6523 0.7165 0.6112 0.5580 0.5760 hom 2206.81 74 3 195501149 . C T 2206.81 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.38;MQ0=0;QD=29.82;VQSLOD=9.1889;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2240,184,0 3 195505664 195505664 G A exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.C12787T:p.P4263S 0.79 0.99 0.66 0.81 0.84 0.54 0.8052 0.9697 0.6492 0.7979 0.7709 0.8358 0.8185 0.6938 0.87 0.97 0.83 0.85 . rs2688513 COSM4005332;COSM4005331 1(urinary_tract);1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.022 0.174 B 0.009 0.133 B 0.404 0.045 N 1 0.090 P . . . 1.56 0.296 T 0.7 0.026 N 0.194 0.238 -0.982 0.345 T 0.000 0.000 T . . . -0.556 0.052 0.160 0.298 0.016 0.001 0.006 N c -1.217 -1.257 0.000 0.029 0.554 0.283 0 0.274 0.148 0.294 0.187 -0.296 0.082 0.371 0.257 0.002 0.062 3.562 0.074 . ENSG00000145113.17|ENSG00000185485.10|ENSG00000176945.12|ENSG00000145113.17|ENSG00000176945.12|ENSG00000185485.10|ENSG00000185485.10|ENSG00000145113.17|ENSG00000145113.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.7873 0.9675 0.6331 0.8689 0.8064 0.7832 0.8316 0.8052 0.6760 0.8111 0.9669 0.6739 0.7020 0.7783 0.7772 0.7302 0.7664 hom 547.99 22 3 195505664 . G A 547.99 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.03;MQ0=0;QD=24.91;VQSLOD=8.1860;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:48.13:581,48,0 3 195515568 195515568 C T exonic MUC4 synonymous SNV MUC4:NM_018406:exon2:c.G2883A:p.G961G 0.2 0.33 0.15 0.052 0.26 0.15 0.2107 0.3019 0.1253 0.0625 0.1629 0.2453 0.2107 0.1636 0.25 0.28 0.23 0.28 . rs62282504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1956 0.2944 0.1271 0.1998 0.0573 0.1584 0.2420 0.2134 0.1550 0.2328 0.3124 0.1607 0.2384 0.0488 0.1649 0.2298 0.2153 het 750.10 43 3 195515568 . C T 750.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.020;DP=43;Dels=0.00;FS=2.874;HRun=0;HaplotypeScore=0.0000;MQ=57.82;MQ0=0;MQRankSum=0.879;QD=17.44;ReadPosRankSum=-0.905;VQSLOD=3.3499;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,28:43:99:780,0,372 3 195515594 195515594 C G exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.G2857C:p.E953Q 0.72 0.61 0.68 0.83 0.85 0.66 0.7760 0.6418 0.6450 0.8043 0.7856 0.8415 0.8022 0.6612 0.77 0.66 0.83 0.64 . rs13095016 . . . . . . . . . . . . . 1.0 0.010 T 0.967 0.544 D 0.492 0.456 P 0.001 0.007 N 1 0.090 P . . . 1.63 0.284 T 0.1 0.058 N 0.023 0.012 -0.856 0.516 T 0.000 0.000 T . . . -0.179 0.078 1.212 0.529 0.047 0.004 0.019 N c -0.808 -1.053 0.000 0.038 0.554 0.283 0 -2.59 0.058 -2.471 0.011 0.535 0.282 0.000 0.063 0.005 0.090 1.034 0.014 . ENSG00000145113.17|ENSG00000176945.12|ENSG00000176945.12|ENSG00000185485.10|ENSG00000145113.17|ENSG00000176945.12|ENSG00000145113.17|ENSG00000145113.17|ENSG00000145113.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Muscle_Skeletal|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.7716 0.6336 0.6453 0.8685 0.8110 0.7963 0.8374 0.7980 0.6611 0.7506 0.6330 0.6966 0.8543 0.7808 0.7900 0.8059 0.7678 hom 1690.71 51 3 195515594 . C G 1690.71 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.17;MQ0=0;QD=33.15;VQSLOD=8.3345;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1724,138,0 3 195515617 195515617 G C exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.C2834G:p.T945S 0.92 1. 0.97 0.83 0.95 0.86 0.9327 0.9901 0.9782 0.7994 0.9458 0.9445 0.9444 0.8823 0.96 0.99 0.94 0.9 . rs2641776 COSM4157921;COSM4157922 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.006 0.126 B 0.004 0.093 B 0.058 0.021 N 1 0.090 P . . . 1.79 0.258 T 0.07 0.061 N 0.019 0.009 -0.999 0.302 T 0.000 0.000 T . . . -1.626 0.014 0.002 0.148 0.003 0.001 0.007 N c -1.967 -2.108 0.075 0.157 0.554 0.283 0 -5.56 0.023 -3.097 0.007 -1.489 0.010 0.000 0.063 0.000 0.016 8.819 0.340 . . . 0.9338 0.9889 0.9787 0.9504 0.8067 0.9473 0.9419 0.9395 0.8840 0.9478 0.9887 0.9713 0.9533 0.7769 0.9522 0.9406 0.9379 hom 1721.90 57 3 195515617 . G C 1721.90 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.69;MQ0=0;QD=30.21;VQSLOD=7.9596;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1755,138,0 3 195516630 195516630 G T exonic MUC4 synonymous SNV MUC4:NM_018406:exon2:c.C1821A:p.S607S 0.83 0.99 0.69 0.82 0.84 0.69 0.7973 0.9687 0.6315 0.7970 0.7890 0.8321 0.8089 0.6737 0.87 0.97 0.83 0.86 . rs3103954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7896 0.9692 0.6429 0.8564 0.8044 0.7969 0.8297 0.8042 0.6777 0.8404 0.9669 0.6902 0.8510 0.7773 0.7918 0.7965 0.7872 hom 8292.79 250 3 195516630 . G T 8292.79 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2880;MQ=59.38;MQ0=0;QD=33.17;VQSLOD=7.7319;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8292,683,0 3 195516878 195516878 T C exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.A1573G:p.T525A 0.77 0.81 0.68 0.82 0.84 0.68 0.7806 0.8147 0.6189 0.7975 0.7889 0.8299 0.8009 0.6611 0.82 0.82 0.82 0.78 . rs2177336 . . . . . . . . . . . . . 1.0 0.010 T 0.053 0.211 B 0.009 0.133 B 0.000 0.005 N 1 0.090 P . . . 1.83 0.253 T 0.1 0.058 N 0.04 0.020 -0.963 0.385 T 0.000 0.000 T . . . -1.284 0.022 0.005 0.328 0.019 0.001 0.007 N c -1.405 -1.544 0.000 0.038 0.497 0.185 0 -2.77 0.055 -2.559 0.010 0.495 0.279 0.000 0.063 0.002 0.062 2.700 0.048 . ENSG00000145113.17|ENSG00000185485.10|ENSG00000176945.12|ENSG00000145113.17|ENSG00000145113.17|ENSG00000176945.12|ENSG00000185485.10|ENSG00000185485.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.7749 0.8132 0.6298 0.8416 0.8054 0.7969 0.8278 0.7918 0.6650 0.7956 0.8134 0.6763 0.8311 0.7781 0.7925 0.7950 0.7761 hom 2612.86 73 3 195516878 . T C 2612.86 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.01;FS=0.000;HRun=3;HaplotypeScore=6.8104;MQ=58.49;MQ0=0;QD=35.31;VQSLOD=6.0667;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2646,211,0 3 195517258 195517258 G A exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.C1193T:p.T398I 0.77 0.81 0.68 0.82 0.84 0.68 0.7807 0.8147 0.6190 0.7985 0.7891 0.8299 0.8013 0.6611 0.82 0.83 0.82 0.78 . rs1106502 COSM149620;COSM149619 1(stomach) . . . . . . . . . . . 1.0 0.010 T 0.068 0.222 B 0.031 0.206 B 0.213 0.034 U 1 0.090 P . . . 1.85 0.248 T 0.13 0.055 N 0.1 0.141 -0.999 0.303 T 0.000 0.000 T . . . -0.212 0.075 1.034 0.344 0.021 0.013 0.044 N c -1.016 -1.118 0.000 0.029 0.615 0.372 0 0.754 0.175 -1.336 0.027 -0.062 0.121 0.000 0.063 0.001 0.043 3.567 0.074 . ENSG00000145113.17|ENSG00000185485.10|ENSG00000176945.12|ENSG00000145113.17|ENSG00000145113.17|ENSG00000176945.12|ENSG00000185485.10|ENSG00000185485.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.7749 0.8131 0.6304 0.8414 0.8056 0.7969 0.8277 0.7918 0.6647 0.7952 0.8128 0.6766 0.8311 0.7783 0.7924 0.7945 0.7786 hom 5493.99 168 3 195517258 . G A 5493.99 Mask AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7552;MQ=58.95;MQ0=0;QD=32.70;VQSLOD=9.8613;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,168:168:99:5493,457,0 3 195517321 195517321 G A exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.C1130T:p.T377I 0.77 0.81 0.68 0.82 0.84 0.68 0.7805 0.8146 0.6185 0.7981 0.7891 0.8298 0.7996 0.6609 0.82 0.83 0.82 0.78 . rs1104760 COSM4005515;COSM4005514 1(urinary_tract) . . . . . . . . . . . 1.0 0.010 T 0.114 0.248 B 0.144 0.322 B 0.749 0.097 U 1 0.090 P . . . 1.64 0.280 T 0.13 0.055 N 0.091 0.321 -1.040 0.174 T 0.000 0.000 T . . . -0.705 0.045 0.070 0.197 0.007 0.019 0.057 N c -1.149 -1.283 0.000 0.029 0.554 0.283 0 -0.914 0.099 0.373 0.201 0.777 0.313 0.001 0.137 0.005 0.090 4.535 0.113 . ENSG00000145113.17|ENSG00000185485.10|ENSG00000176945.12|ENSG00000145113.17|ENSG00000145113.17|ENSG00000176945.12|ENSG00000185485.10|ENSG00000185485.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.7748 0.8131 0.6299 0.8414 0.8054 0.7969 0.8276 0.7918 0.6648 0.7956 0.8129 0.6754 0.8311 0.7792 0.7922 0.7955 0.7765 hom 7714.71 250 3 195517321 . G A 7714.71 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2003;MQ=58.93;MQ0=0;QD=30.86;VQSLOD=4.8937;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7714,617,0 3 195517553 195517553 A C exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.T898G:p.F300V 0.77 0.81 0.69 0.82 0.84 0.68 0.7809 0.8149 0.6194 0.7980 0.7893 0.8301 0.8013 0.6612 0.83 0.83 0.82 0.78 . rs882605 . . . . . . . . . . . . . 1.0 0.010 T 0.003 0.102 B 0.0 0.013 B . . . 1 0.090 P . . . 1.76 0.262 T 0.1 0.058 N 0.039 0.032 -1.016 0.249 T 0.000 0.000 T . . . -1.401 0.019 0.003 0.502 0.043 0.001 0.005 N c -2.027 -2.173 0.623 0.219 0.554 0.283 0 -7.14 0.014 -2.611 0.010 -1.948 0.005 0.000 0.063 0.000 0.016 0.344 0.003 . ENSG00000145113.17|ENSG00000185485.10|ENSG00000176945.12|ENSG00000145113.17|ENSG00000145113.17|ENSG00000176945.12|ENSG00000185485.10|ENSG00000185485.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.7752 0.8134 0.6304 0.8415 0.8055 0.7971 0.8280 0.7925 0.6651 0.7952 0.8124 0.6794 0.8311 0.7778 0.7925 0.7946 0.7787 hom 4114.31 117 3 195517553 . A C 4114.31 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.92;MQ0=0;QD=35.17;VQSLOD=10.0838;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:4114,325,0 3 195518112 195518112 - GTCTCCTGCGTAACA exonic;splicing MUC4;MUC4 NM_001322468:exon2:c.338+1->TGTTACGCAGGAGAC nonframeshift insertion MUC4:NM_018406:exon2:c.338_339insTGTTACGCAGGAGAC:p.T113_A114insVTQET 0.73 0.66 0.68 0.81 0.82 0.68 0.7527 0.6803 0.6058 0.7792 0.7850 0.8060 0.7879 0.6548 0.75 0.66 0.79 0.033 . rs71180965 COSM1421936;COSM1617396 1(liver);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7352 0.6684 0.6559 0.82 0.7544 0.7925 0.7604 0.7480 hom 17127.88 95 3 195518112 . T TGTCTCCTGCGTAACA 17127.88 Mask AC=2;AF=1.00;AN=2;DP=95;FS=0.000;HRun=0;HaplotypeScore=910.7691;MQ=36.71;MQ0=0;QD=176.58;set=variant2 GT:AD:DP:GQ:PL 1/1:53,28:95:99:17128,274,0 3 195518330 195518330 C G exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.G121C:p.A41P 0.5 0.21 0.52 0.76 0.64 0.5 0.5769 0.2480 0.5156 0.7273 0.6612 0.6310 0.6217 0.4817 0.51 0.28 0.62 0.48 . rs3107764 . . . . . . . . . . . . . 1.0 0.010 T 0.006 0.126 B 0.001 0.040 B 0.118 0.027 U 1 0.090 P 0 0.065 N 0.8 0.488 T 0.26 0.044 N 0.091 0.181 -1.049 0.147 T 0.000 0.000 T . . . -1.987 0.008 0.001 0.273 0.013 0.001 0.007 N c -2.428 -2.520 1.000 0.446 0.554 0.283 0 -5.93 0.021 -3.013 0.007 -3.083 0.001 0.000 0.063 0.000 0.016 0.744 0.009 . ENSG00000224769.1|ENSG00000185485.10|ENSG00000272792.1|ENSG00000242086.4|ENSG00000271662.1|ENSG00000185485.10|ENSG00000242086.4|ENSG00000271662.1|ENSG00000272792.1|ENSG00000145113.17|ENSG00000229178.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000272792.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000185485.10|ENSG00000242086.4|ENSG00000229178.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000185485.10|ENSG00000272792.1|ENSG00000242086.4|ENSG00000272792.1|ENSG00000224769.1|ENSG00000260261.1|ENSG00000271662.1|ENSG00000185485.10|ENSG00000272792.1|ENSG00000242086.4|ENSG00000224769.1|ENSG00000185485.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.5834 0.2416 0.5223 0.6819 0.7364 0.6695 0.6253 0.6083 0.4838 0.5098 0.2458 0.5240 0.6510 0.7174 0.6686 0.5957 0.5830 hom 6484.04 214 3 195518330 . C G 6484.04 Mask AC=2;AF=1.00;AN=2;DP=214;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5119;MQ=58.42;MQ0=0;QD=30.30;VQSLOD=8.4948;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:6483,512,0 3 195615376 195615376 A G exonic TNK2 synonymous SNV TNK2:NM_001010938:exon2:c.T273C:p.D91D,TNK2:NM_001308046:exon2:c.T180C:p.D60D,TNK2:NM_005781:exon2:c.T84C:p.D28D 0.44 0.67 0.42 0.46 0.29 0.29 0.3383 0.6022 0.3847 0.4413 0.2937 0.2888 0.3135 0.3054 0.39 0.59 0.29 0.52 0.23 rs3747669 . . Benign not_specified RCV000250321.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3357 0.6092 0.3876 0.4079 0.4429 0.2963 0.2770 0.3338 0.3020 0.3750 0.6015 0.3747 0.3841 0.4336 0.2859 0.2625 0.3045 het 1286.49 107 3 195615376 . A G 1286.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.071;DP=107;Dels=0.00;FS=4.841;HRun=0;HaplotypeScore=2.7834;MQ=58.38;MQ0=0;MQRankSum=0.519;QD=12.02;ReadPosRankSum=0.512;VQSLOD=5.4164;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,48:107:99:1316,0,1602 3 196050834 196050834 C T exonic TM4SF19 nonsynonymous SNV TM4SF19:NM_001204898:exon4:c.G406A:p.V136I,TM4SF19:NM_138461:exon5:c.G484A:p.V162I 0.048 0.053 0.072 . 0.11 0.014 0.0719 0.0577 0.0505 0 0.0697 0.0980 0.0692 0.0293 0.087 0.064 0.099 0.043 0.057 rs35643777 COSM5618141 1(breast) . . . . . . . . . . . 0.377 0.139 T 0.999 0.764 D 0.992 0.790 D 0.001 0.434 D 0.997 0.588 P 2.38 0.688 M 1.53 0.304 T -0.28 0.116 N . . -1.038 0.178 T 0.004 0.013 T . . . 2.334 0.342 18.39 0.988 0.459 0.363 0.253 N c -0.192 -0.171 1.000 0.747 0.622 0.393 0 4.26 0.497 0.832 0.270 -0.423 0.059 0.795 0.294 0.988 0.529 9.852 0.400 . ENSG00000163959.5|ENSG00000163959.5|ENSG00000163959.5|ENSG00000163959.5|ENSG00000235897.1|ENSG00000163959.5|ENSG00000163959.5|ENSG00000145113.17 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Testis|Thyroid 0.0710 0.0566 0.0536 0.0819 0.0001 0.0734 0.0988 0.0804 0.0293 0.0697 0.0574 0.0586 0.0629 0 0.0696 0.0853 0.0672 het 676.19 58 3 196050834 . C T 676.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.928;DP=58;Dels=0.00;FS=1.238;HRun=0;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=-1.886;QD=11.66;ReadPosRankSum=-0.249;VQSLOD=5.6838;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,27:58:99:706,0,719 3 196054439 196054439 T G exonic TM4SF19 nonsynonymous SNV TM4SF19:NM_001204897:exon2:c.A23C:p.Q8P,TM4SF19:NM_001204898:exon2:c.A23C:p.Q8P,TM4SF19:NM_138461:exon2:c.A23C:p.Q8P 0.63 0.44 0.6 0.87 0.57 0.72 0.6194 0.4766 0.6440 0.9060 0.5507 0.5904 0.6186 0.6858 0.54 0.48 0.58 0.56 0.53 rs6785339 COSM1162699 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.047 0.403 D 0.0 0.026 B 0.0 0.013 B 0.969 0.082 N 1 0.090 P 0 0.065 N 1.88 0.307 T -0.05 0.078 N 0.058 0.052 -1.019 0.239 T 0.000 0.000 T . . . -0.185 0.077 1.179 0.598 0.061 0.011 0.041 N c -1.249 -1.185 0.995 0.340 0.497 0.185 0 3.1 0.346 0.542 0.228 -0.592 0.044 0.141 0.233 0.000 0.016 3.407 0.069 . ENSG00000163959.5|ENSG00000163959.5|ENSG00000163959.5|ENSG00000161217.7|ENSG00000163959.5|ENSG00000163959.5|ENSG00000235897.1|ENSG00000163959.5|ENSG00000145107.11|ENSG00000163959.5|ENSG00000163959.5 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.6189 0.4692 0.6405 0.6030 0.9042 0.5472 0.5880 0.5927 0.6830 0.5638 0.4783 0.6134 0.6159 0.9120 0.5464 0.5747 0.5850 hom 3291.78 99 3 196054439 . T G 3291.78 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5049;MQ=58.47;MQ0=0;QD=33.25;VQSLOD=8.5284;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:99:99:3291,262,0 3 196199204 196199204 G T exonic RNF168 nonsynonymous SNV RNF168:NM_152617:exon6:c.C1202A:p.P401Q 0.4 0.24 0.48 0.18 0.6 0.6 0.5405 0.2950 0.4015 0.1634 0.6607 0.6192 0.5672 0.6224 0.52 0.31 0.62 0.37 0.56 rs3796129 . . Benign not_specified RCV000456034.1 MedGen CN169374 . . . . . . 0.058 0.377 T 0.8 0.430 P 0.216 0.359 B 0.139 0.184 N 1 0.090 P 2.38 0.688 M 3.18 0.075 T -1.0 0.264 N 0.079 0.071 -1.041 0.169 T 0.000 0.000 T . . . 2.051 0.307 16.54 0.880 0.171 0.295 0.236 N c -0.208 -0.293 0.921 0.266 0.707 0.730 0 4.29 0.502 2.441 0.443 0.998 0.613 0.046 0.210 0.713 0.312 8.591 0.327 . ENSG00000235897.1|ENSG00000163958.9|ENSG00000145107.11 Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal 0.5380 0.2869 0.3988 0.6161 0.1642 0.6618 0.6171 0.5695 0.6172 0.5038 0.2989 0.4306 0.6225 0.1776 0.6676 0.6172 0.5706 hom 6844.56 222 3 196199204 . G T 6844.56 Mask AC=2;AF=1.00;AN=2;DP=222;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7219;MQ=59.53;MQ0=0;QD=30.83;VQSLOD=8.8747;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,222:222:99:6844,527,0 3 196281208 196281208 T C exonic WDR53 synonymous SNV WDR53:NM_001345915:exon2:c.A468G:p.P156P,WDR53:NM_001345907:exon3:c.A951G:p.P317P,WDR53:NM_001345911:exon3:c.A474G:p.P158P,WDR53:NM_001345912:exon3:c.A468G:p.P156P,WDR53:NM_001345913:exon3:c.A468G:p.P156P,WDR53:NM_001345914:exon3:c.A468G:p.P156P,WDR53:NM_001345906:exon4:c.A951G:p.P317P,WDR53:NM_001345908:exon4:c.A951G:p.P317P,WDR53:NM_001345909:exon4:c.A951G:p.P317P,WDR53:NM_001345910:exon4:c.A951G:p.P317P,WDR53:NM_182627:exon4:c.A951G:p.P317P 0.32 0.37 0.32 0.059 0.45 0.41 0.4002 0.3743 0.2724 0.0651 0.4035 0.4572 0.3888 0.4505 0.43 0.37 0.45 0.35 0.5 rs9311 COSM3760000 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3942 0.3712 0.2824 0.4944 0.0646 0.3976 0.4562 0.4167 0.4488 0.3923 0.3599 0.3062 0.4735 0.0623 0.3951 0.4502 0.3791 hom 5303.25 186 3 196281208 . T C 5303.25 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9945;MQ=59.43;MQ0=0;QD=28.51;VQSLOD=8.3076;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5302,409,0 3 196304665 196304665 C T exonic FBXO45 synonymous SNV FBXO45:NM_001105573:exon2:c.C660T:p.N220N 0.0004 . . 0.001 . 0.001 0.0002 0 0.0001 0.0001 0 0 0 0.0013 . . . . . rs573601854 COSM460822 1(cervix) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0 6.097e-05 0 0 0 0 0 0.0012 . . . . . . . . het 286.81 32 3 196304665 . C T 286.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.149;DP=32;Dels=0.00;FS=1.573;HRun=0;HaplotypeScore=0.7887;MQ=58.69;MQ0=0;MQRankSum=-0.269;QD=8.96;ReadPosRankSum=-0.077;VQSLOD=4.3445;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,13:32:99:317,0,457 3 196386964 196386964 C G exonic NRROS synonymous SNV NRROS:NM_198565:exon3:c.C450G:p.A150A 0.81 0.68 0.86 0.93 0.76 0.85 0.7869 0.6931 0.8704 0.9451 0.6769 0.7644 0.7950 0.8361 0.74 0.7 0.76 0.78 0.7 rs1798631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7880 0.6845 0.8663 0.8412 0.9414 0.6793 0.7586 0.7899 0.8333 0.7412 0.6882 0.8317 0.8758 0.9449 0.6771 0.7563 0.7572 het 626.42 58 3 196386964 . C G 626.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.478;DP=58;Dels=0.00;FS=1.022;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.630;QD=10.80;ReadPosRankSum=0.973;VQSLOD=5.5306;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,28:58:99:656,0,923 3 196388023 196388023 C G exonic NRROS synonymous SNV NRROS:NM_198565:exon3:c.C1509G:p.L503L 0.0054 0.0015 0.011 . 0.016 0.001 0.0137 0.0044 0.0111 0 0.0136 0.0201 0.0177 0.0022 0.017 0.0059 0.022 . . rs62636585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0139 0.0041 0.0107 0.0420 0 0.0112 0.0196 0.0140 0.0025 0.0136 0.0038 0.0107 0.0364 0 0.0095 0.0212 0.0184 het 2563.16 180 3 196388023 . C G 2563.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.427;DP=180;Dels=0.00;FS=6.435;HRun=1;HaplotypeScore=6.3394;MQ=59.41;MQ0=0;MQRankSum=1.081;QD=14.24;ReadPosRankSum=0.835;VQSLOD=3.9280;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,85:180:99:2593,0,2296 3 196435534 196435534 T C exonic CEP19 nonsynonymous SNV CEP19:NM_032898:exon2:c.A7G:p.M3V 0.44 0.43 0.32 0.6 0.35 0.46 0.3851 0.4088 0.2904 0.6156 0.3823 0.3506 0.3544 0.4593 0.37 0.4 0.35 0.47 0.3 rs6776064 COSM3945351 1(lung) . . . . . . . . . . . 1.0 0.010 T . . . . . . . . . 1 0.090 P . . . . . . -0.44 0.146 N 0.002 0.000 -0.935 0.434 T 0.000 0.000 T . . . -2.125 0.006 0.001 0.691 0.086 0.016 0.052 N c -0.744 -0.822 1.000 0.747 0.615 0.372 0 2.89 0.326 -0.237 0.089 0.067 0.174 0.000 0.063 0.110 0.193 7.318 0.255 . ENSG00000174007.7|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000163964.9|ENSG00000163964.9|ENSG00000174007.7|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Putamen_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.3802 0.4082 0.2952 0.2979 0.6210 0.3747 0.3519 0.3577 0.4610 0.3897 0.4117 0.3115 0.2881 0.6219 0.3860 0.3587 0.3990 het 688.42 46 3 196435534 . T C 688.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.000;DP=46;Dels=0.00;FS=1.232;HRun=0;HaplotypeScore=0.9973;MQ=59.50;MQ0=0;MQRankSum=1.100;QD=14.97;ReadPosRankSum=-1.170;VQSLOD=6.3976;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,28:46:99:718,0,498 3 196460680 196460680 C T exonic PIGX synonymous SNV PIGX:NM_017861:exon6:c.C684T:p.T228T,PIGX:NM_001166304:exon7:c.C738T:p.T246T 0.13 0.12 0.16 0.001 0.23 0.15 0.1792 0.1473 0.1101 0.0007 0.1582 0.2242 0.1784 0.1675 0.2 0.16 0.22 0.16 0.17 rs34830136 COSM3760002;COSM3760003 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1783 0.1473 0.1184 0.3076 0.0006 0.1615 0.2217 0.1995 0.1682 0.1731 0.1500 0.1420 0.3344 0.0006 0.1580 0.2080 0.1605 het 2590.33 148 3 196460680 . C T 2590.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.133;DP=148;Dels=0.00;FS=6.527;HRun=1;HaplotypeScore=3.3649;MQ=59.30;MQ0=0;MQRankSum=0.470;QD=17.50;ReadPosRankSum=0.059;VQSLOD=4.3437;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,89:148:99:2620,0,1604 3 196613075 196613075 C T exonic SENP5 synonymous SNV SENP5:NM_001308045:exon2:c.C1023T:p.D341D,SENP5:NM_152699:exon2:c.C1023T:p.D341D 0.24 0.36 0.12 0.17 0.23 0.23 0.2068 0.3381 0.1041 0.1312 0.1526 0.2180 0.1777 0.2132 0.25 0.33 0.21 0.25 0.2 rs34533379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2001 0.3427 0.1155 0.2095 0.1300 0.1511 0.2234 0.2026 0.2081 0.2378 0.3407 0.1591 0.2185 0.1377 0.1470 0.2170 0.2020 het 1510.77 119 3 196613075 . C T 1510.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.605;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9457;MQ=58.96;MQ0=0;MQRankSum=0.218;QD=12.70;ReadPosRankSum=0.127;VQSLOD=6.2646;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1541,0,1527 3 196674259 196674259 G A exonic PIGZ synonymous SNV PIGZ:NM_025163:exon3:c.C1509T:p.T503T 0.11 0.015 0.088 0.069 0.15 0.23 0.1374 0.0377 0.0715 0.0543 0.1239 0.1573 0.1222 0.2155 0.12 0.042 0.16 0.098 0.066 rs61179255 COSM4407024 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1361 0.0358 0.0748 0.1672 0.0560 0.1209 0.1591 0.1334 0.2160 0.1132 0.0395 0.0931 0.1556 0.0630 0.1244 0.1578 0.1350 het 1017.59 107 3 196674259 . G A 1017.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.784;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6722;MQ=59.83;MQ0=0;MQRankSum=-0.378;QD=9.51;ReadPosRankSum=-1.820;VQSLOD=4.7606;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,43:107:99:1048,0,1854 3 196674749 196674749 C T exonic PIGZ nonsynonymous SNV PIGZ:NM_025163:exon3:c.G1019A:p.R340Q 0.63 0.68 0.57 0.77 0.6 0.5 0.5911 0.6575 0.4919 0.8062 0.6238 0.5962 0.5878 0.4728 0.61 0.65 0.58 0.61 0.43 rs4916589 COSM4157932 1(pancreas);1(thyroid) . . . . . . . . . . . 0.505 0.076 T 0.0 0.026 B 0.0 0.013 B 0.103 0.198 N 1.000 0.090 P -1.845 0.003 N 0.04 0.621 T 0.72 0.021 N 0.046 0.026 -0.954 0.403 T 0.000 0.000 T . . . 0.654 0.156 8.523 0.629 0.069 0.086 0.143 N c -1.039 -0.826 1.000 0.747 0.660 0.495 0 3.4 0.379 1.384 0.338 0.154 0.240 0.999 0.424 0.064 0.173 1.287 0.019 . ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5902 0.6645 0.5119 0.6841 0.8056 0.6152 0.5890 0.5955 0.4733 0.6288 0.6637 0.5477 0.6391 0.8009 0.6072 0.6008 0.6033 hom 2844.48 81 3 196674749 . C T 2844.48 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=58.76;MQ0=0;QD=35.12;VQSLOD=9.2045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:81:99:2877,226,0 3 196674879 196674879 A G exonic PIGZ synonymous SNV PIGZ:NM_025163:exon3:c.T889C:p.L297L 0.59 0.6 0.61 0.76 0.49 0.51 0.5381 0.5777 0.6838 0.7973 0.5781 0.4755 0.5507 0.5047 0.49 0.57 0.45 0.59 0.49 rs12636891 COSM5618978;COSM4157933 2(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5419 0.5772 0.6790 0.5563 0.7995 0.5723 0.4619 0.5241 0.4918 0.5458 0.5790 0.6695 0.5232 0.8103 0.5702 0.4862 0.5369 het 2356.49 212 3 196674879 . A G 2356.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.003;DP=212;Dels=0.00;FS=12.746;HRun=1;HaplotypeScore=7.9539;MQ=58.53;MQ0=0;MQRankSum=-0.387;QD=11.12;ReadPosRankSum=-0.593;VQSLOD=2.8791;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,92:212:99:2386,0,3242 3 196674916 196674916 A C exonic PIGZ synonymous SNV PIGZ:NM_025163:exon3:c.T852G:p.A284A 0.58 0.67 0.46 0.77 0.4 0.53 0.4596 0.6265 0.5078 0.8003 0.3119 0.3800 0.4862 0.5292 0.46 0.62 0.38 0.54 0.48 rs1147240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4578 0.6259 0.5034 0.5089 0.8000 0.3136 0.3756 0.4393 0.5129 0.4575 0.6255 0.5060 0.4768 0.8066 0.3124 0.3580 0.3845 het 1763.91 184 3 196674916 . A C 1763.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.426;DP=184;Dels=0.00;FS=6.919;HRun=0;HaplotypeScore=1.8737;MQ=58.46;MQ0=0;MQRankSum=0.571;QD=9.59;ReadPosRankSum=0.653;VQSLOD=4.9081;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:103,81:184:99:1794,0,2902 3 196674972 196674972 C T exonic PIGZ nonsynonymous SNV PIGZ:NM_025163:exon3:c.G796A:p.A266T 0.81 0.86 0.82 0.93 0.77 0.62 0.7699 0.8430 0.8457 0.9465 0.8102 0.7440 0.7956 0.6421 0.58 0.69 0.52 0.011 0.69 rs574365 . . . . . . . . . . . . . 0.323 0.134 T 0.001 0.067 B 0.003 0.080 B 0.627 0.107 N 1 0.090 P 0.93 0.236 L -0.06 0.636 T -0.34 0.127 N 0.031 0.012 -0.972 0.368 T 0.000 0.000 T . . . -0.464 0.058 0.270 0.842 0.147 0.052 0.109 N c -0.955 -0.955 1.000 0.489 0.660 0.495 0 1.91 0.247 0.036 0.136 0.007 0.138 0.001 0.137 0.002 0.062 7.294 0.254 . ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000119227.3|ENSG00000270170.1|ENSG00000114503.6|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000119227.3|ENSG00000270170.1|ENSG00000114503.6|ENSG00000270170.1|ENSG00000270170.1 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.7715 0.8464 0.8488 0.8572 0.9491 0.7992 0.7323 0.7835 0.6325 0.7918 0.8466 0.8385 0.8367 0.9542 0.8022 0.7371 0.7746 hom 2897.28 89 3 196674972 . C T 2897.28 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;QD=32.55;VQSLOD=8.7565;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2930,250,0 3 196674973 196674973 T C exonic PIGZ synonymous SNV PIGZ:NM_025163:exon3:c.A795G:p.A265A 0.82 0.94 0.83 0.89 0.77 0.62 0.7716 0.9021 0.8472 0.9148 0.7948 0.7434 0.7877 0.6421 0.62 0.8 0.53 0.043 0.68 rs573708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7721 0.9075 0.8510 0.8574 0.9199 0.7861 0.7320 0.7820 0.6317 0.8048 0.9088 0.8445 0.8367 0.9251 0.7854 0.7350 0.7654 hom 2698.57 86 3 196674973 . T C 2698.57 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.65;MQ0=0;QD=31.38;VQSLOD=8.4916;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2732,247,0 3 196742290 196742290 T C exonic MELTF synonymous SNV MELTF:NM_005929:exon9:c.A1179G:p.P393P 0.28 0.4 0.19 0.28 0.22 0.23 0.3478 0.4591 0.3413 0.4230 0.3851 0.3474 0.3571 0.2547 0.27 0.37 0.22 0.25 0.2 rs9855410 COSM3760005 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2341 0.3825 0.1881 0.3214 0.2880 0.2243 0.2187 0.2499 0.2186 0.2645 0.3704 0.2196 0.3113 0.3010 0.2230 0.2133 0.2184 het 296.40 19 3 196742290 . T C 296.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.289;DP=19;Dels=0.00;FS=2.772;HRun=1;HaplotypeScore=1.6584;MQ=60.00;MQ0=0;MQRankSum=0.372;QD=15.60;ReadPosRankSum=0.289;VQSLOD=6.4574;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,11:19:99:326,0,172 3 196743130 196743130 T C exonic MELTF synonymous SNV MELTF:NM_005929:exon8:c.A1011G:p.T337T 0.32 0.47 0.2 0.3 0.25 0.29 0.2671 0.4508 0.1754 0.3026 0.2939 0.2460 0.2864 0.2707 0.3 0.44 0.23 0.28 0.25 rs6779362 COSM1131492 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2576 0.4507 0.1863 0.3199 0.2917 0.2856 0.2331 0.2662 0.2676 0.3015 0.4399 0.2303 0.3046 0.3056 0.2910 0.2299 0.2571 het 1737.96 121 3 196743130 . T C 1737.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.466;DP=121;Dels=0.00;FS=8.030;HRun=0;HaplotypeScore=1.4725;MQ=59.85;MQ0=0;MQRankSum=-0.755;QD=14.36;ReadPosRankSum=-1.253;VQSLOD=4.4130;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,58:121:99:1768,0,1673 3 196746629 196746629 T C exonic MELTF synonymous SNV MELTF:NM_033316:exon7:c.A756G:p.E252E 0.27 0.28 0.34 0.28 0.23 0.21 0.2515 0.2778 0.3930 0.2940 0.2305 0.2287 0.2621 0.2139 0.24 0.27 0.22 0.23 0.25 rs1056664 COSM3760006 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2568 0.2761 0.3889 0.2948 0.2876 0.2260 0.2223 0.2663 0.2163 0.2424 0.2708 0.3911 0.2881 0.2923 0.2212 0.2175 0.2234 het 1775.64 110 3 196746629 . T C 1775.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.824;DP=110;Dels=0.00;FS=2.707;HRun=1;HaplotypeScore=5.8341;MQ=59.24;MQ0=0;MQRankSum=0.997;QD=16.14;ReadPosRankSum=1.703;VQSLOD=4.4605;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:48,62:110:99:1806,0,1285 3 196807928 196807928 A C exonic DLG1 nonsynonymous SNV DLG1:NM_001204387:exon13:c.T1650G:p.D550E,DLG1:NM_001204388:exon13:c.T1650G:p.D550E,DLG1:NM_001204386:exon17:c.T1899G:p.D633E,DLG1:NM_001098424:exon18:c.T1998G:p.D666E,DLG1:NM_001290983:exon18:c.T1998G:p.D666E,DLG1:NM_004087:exon18:c.T1998G:p.D666E 0.0056 . 0.011 . 0.02 . 0.0073 0.0022 0.0068 0 0.0056 0.0109 0.0056 0.0009 0.01 0.0034 0.013 . . rs35430440 . . . . . . . . . . . . . 0.194 0.313 T 0.002 0.112 B 0.02 0.179 B 0.002 0.380 N 0.975 0.402 D -0.57 0.023 N -1.6 0.822 D -1.17 0.299 N 0.025 0.010 -0.903 0.477 T 0.118 0.415 T . . . 1.923 0.292 15.73 0.978 0.354 0.568 0.299 D c -0.698 -0.497 0.129 0.171 0.732 0.924 0 2.47 0.290 0.146 0.159 0.157 0.243 0.976 0.346 0.999 0.750 4.871 0.129 PDZ domain;SH3 domain . . 0.0074 0.0016 0.0072 0.0030 0 0.0046 0.0119 0.0095 0.0009 0.0065 0.0018 0.0072 0.0066 0 0.0040 0.0103 0.0072 het 741.27 55 3 196807928 . A C 741.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.707;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;MQRankSum=-0.416;QD=13.48;ReadPosRankSum=-1.163;VQSLOD=5.7736;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,31:55:99:771,0,554 3 197241286 197241286 G C exonic BDH1 synonymous SNV BDH1:NM_004051:exon6:c.C411G:p.G137G,BDH1:NM_203315:exon6:c.C411G:p.G137G,BDH1:NM_203314:exon7:c.C411G:p.G137G 0.078 0.17 0.063 0.001 0.066 0.058 0.0617 0.1506 0.0371 0.0015 0.0481 0.0580 0.0704 0.0780 0.091 0.14 0.065 0.12 0.074 rs35089738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0581 0.1458 0.0362 0.0697 0.0014 0.0450 0.0611 0.0576 0.0651 0.0746 0.1444 0.0513 0.1060 0 0.0401 0.0530 0.0419 het 2845.92 206 3 197241286 . G C 2845.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.272;DP=206;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.3809;MQ=59.30;MQ0=0;MQRankSum=-2.361;QD=13.82;ReadPosRankSum=0.317;VQSLOD=2.7001;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:94,112:206:99:2876,0,2425 3 197495334 197495334 G A exonic FYTTD1 nonsynonymous SNV FYTTD1:NM_032288:exon3:c.G260A:p.R87H,FYTTD1:NM_001011537:exon4:c.G182A:p.R61H 0.75 0.44 0.82 0.94 0.85 0.84 0.8182 0.4636 0.8556 0.9440 0.8506 0.8391 0.8491 0.8503 0.72 0.46 0.84 0.66 0.82 rs3205525 COSM3760017 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.122 0.335 T 0.059 0.226 B 0.013 0.184 B 0.003 0.357 N 0.643 0.588 P 1.845 0.488 L 0.44 0.566 T -2.75 0.640 D 0.421 0.478 -1.045 0.158 T 0.000 0.000 T . . . 3.357 0.462 22.9 0.990 0.505 0.850 0.438 D c -0.302 -0.164 0.000 0.068 0.707 0.730 0 2.88 0.325 2.535 0.451 0.949 0.536 1.000 0.715 0.999 0.750 8.403 0.316 . . . 0.8253 0.4560 0.8451 0.8099 0.9447 0.8474 0.8407 0.8279 0.8530 0.7379 0.4556 0.8341 0.8278 0.9438 0.8516 0.8390 0.8408 hom 4157.48 140 3 197495334 . G A 4157.48 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=29.70;VQSLOD=9.2791;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4157,322,0 3 197566254 197566254 T C exonic LRCH3 synonymous SNV LRCH3:NM_032773:exon10:c.T1314C:p.Y438Y 0.32 0.24 0.43 0.37 0.33 0.28 0.3648 0.2404 0.5212 0.3854 0.3981 0.3635 0.4198 0.3105 0.32 0.25 0.36 0.34 0.2 rs17850206 COSM3760020;COSM3760019;COSM3760018 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3585 0.2323 0.4741 0.3073 0.3684 0.3951 0.3580 0.3607 0.2988 0.3420 0.2418 0.4880 0.3113 0.3489 0.3886 0.3780 0.3904 het 684.59 62 3 197566254 . T C 684.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.218;DP=62;Dels=0.00;FS=0.979;HRun=0;HaplotypeScore=0.7340;MQ=58.03;MQ0=0;MQRankSum=0.949;QD=11.04;ReadPosRankSum=0.207;VQSLOD=5.4785;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,26:62:99:715,0,838 3 197579466 197579466 C T exonic LRCH3 nonsynonymous SNV LRCH3:NM_032773:exon13:c.C1565T:p.P522L 0.11 0.12 0.045 0.18 0.075 0.086 0.0764 0.1023 0.0327 0.1688 0.0470 0.0721 0.0639 0.0719 0.085 0.11 0.074 0.054 0.098 rs36078463 . . . . . . . . . . . . . 0.1 0.784 T 0.006 0.144 B 0.004 0.162 B 0.015 0.283 N 1 0.090 P 1.445 0.365 L 2.13 0.433 T -1.81 0.651 N 0.148 0.175 -1.080 0.074 T 0.000 0.001 T . . . 0.347 0.127 6.137 0.560 0.053 0.066 0.125 N c -0.840 -0.820 0.871 0.254 0.706 0.609 0 2.74 0.312 0.596 0.236 0.071 0.179 0.000 0.063 0.000 0.016 3.888 0.085 . . . 0.0739 0.1046 0.0375 0.0475 0.1699 0.0450 0.0747 0.0736 0.0711 0.0805 0.1053 0.0431 0.0530 0.1821 0.0461 0.0674 0.0560 het 2397.20 219 3 197579466 . C T 2397.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.254;DP=219;DS;Dels=0.00;FS=0.508;HRun=0;HaplotypeScore=10.5444;MQ=59.24;MQ0=0;MQRankSum=0.316;QD=10.95;ReadPosRankSum=-0.715;VQSLOD=3.7875;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:121,98:219:99:2427,0,3051 3 197701913 197701913 G T exonic LMLN nonsynonymous SNV LMLN:NM_001136049:exon3:c.G318T:p.E106D,LMLN:NM_033029:exon3:c.G318T:p.E106D 0.21 0.52 0.1 0.011 0.12 0.17 0.1350 0.4655 0.0591 0.0089 0.1588 0.1103 0.1217 0.1402 0.22 0.45 0.11 0.24 0.098 rs7373165 . . . . . . . . . . . . . 0.214 0.215 T 0.001 0.090 B 0.012 0.149 B 0.008 0.311 N 0.987 0.245 P -0.235 0.039 N 0.96 0.429 T -1.13 0.320 N 0.116 0.127 -0.910 0.469 T 0.000 0.000 T . . . 2.303 0.338 18.19 0.988 0.468 0.702 0.342 D c -0.330 -0.164 0.001 0.080 0.615 0.372 0 3.56 0.397 0.884 0.277 -0.363 0.068 1.000 0.715 0.994 0.587 8.178 0.303 . ENSG00000114473.9|ENSG00000114473.9 Artery_Tibial|Whole_Blood 0.1243 0.4656 0.0617 0.1224 0.0096 0.1559 0.1054 0.1142 0.1365 0.2100 0.4619 0.0861 0.1258 0.0123 0.1593 0.1115 0.1173 het 1125.60 126 3 197701913 . G T 1125.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.030;DP=126;Dels=0.00;FS=0.680;HRun=2;HaplotypeScore=0.9894;MQ=58.66;MQ0=0;MQRankSum=-0.363;QD=8.93;ReadPosRankSum=0.502;VQSLOD=5.6550;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,51:126:99:1156,0,1855 3 197712759 197712759 T C exonic LMLN synonymous SNV LMLN:NM_001136049:exon8:c.T927C:p.Y309Y,LMLN:NM_033029:exon8:c.T927C:p.Y309Y 0.21 0.52 0.1 0.011 0.12 0.17 0.1383 0.4660 0.0603 0.0091 0.1593 0.1134 0.1253 0.1443 0.23 0.45 0.11 0.24 0.12 rs7373242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1269 0.4717 0.0646 0.1230 0.0097 0.1566 0.1070 0.1168 0.1424 0.2102 0.4622 0.0859 0.1258 0.0130 0.1592 0.1118 0.1171 het 749.26 73 3 197712759 . T C 749.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.242;DP=73;Dels=0.00;FS=2.057;HRun=0;HaplotypeScore=1.9937;MQ=57.99;MQ0=0;MQRankSum=-1.216;QD=10.26;ReadPosRankSum=-0.443;VQSLOD=4.7150;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,30:73:99:779,0,1071 4 85995 85995 - A exonic ZNF595 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9964 1 1 0.9933 1 0.9981 0.9909 0.9899 0.99 1. 0.99 . . rs61336127 COSN20099643;COSN20099647;COSN20099645;COSN15648740;COSN15648729;COSN15648735;COSN20099646;COSN15648728;COSN15648742;COSN15648721;COSN15648722;COSN15648727;COSN15648736;COSN15648738;COSN15648741;COSN20099644;COSN15648737;COSN15648726;COSN15648734;COSN15648733;COSN15648731;COSN15648732;COSN15648730;COSN15648723;COSN20099642;COSN15648725;COSN15648739;COSN15648724 22(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9916 0.9929 0.9885 0.9856 0.9931 0.9959 0.9943 0.9860 0.9846 0.9978 0.9983 0.9988 0.9959 0.9969 0.9983 0.9974 0.9978 hom 1168.08 30 4 85995 . C CA 1168.08 Mask AC=2;AF=1.00;AN=2;DP=30;FS=0.000;HRun=2;HaplotypeScore=313.2998;MQ=41.25;MQ0=0;QD=36.50;set=variant2 GT:AD:DP:GQ:PL 1/1:3,29:30:84.28:1210,84,0 4 86016 86016 - C exonic ZNF595 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . . . rs57253237 COSN20099649;COSN5851283;COSN20099652;COSN20099648;COSN1302257;COSN20099651;COSN20099653;COSN20099650 1(upper_aerodigestive_tract);1(liver);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9731 0.9730 0.9097 0.9595 0.9555 0.9899 0.9868 0.9415 0.9426 0.9975 0.9985 0.9987 0.9909 0.9962 0.9983 0.9970 0.9955 hom 627.64 16 4 86016 . G GC 627.64 Mask AC=2;AF=1.00;AN=2;DP=16;FS=0.000;HRun=1;HaplotypeScore=315.8932;MQ=31.16;MQ0=0;QD=36.92;set=variant2 GT:AD:DP:GQ:PL 1/1:2,15:16:45.15:670,45,0 4 86032 86032 A - exonic ZNF595 unknown UNKNOWN 0.7 0.61 0.71 0.77 0.77 0.69 0.9908 0.9963 1 1 0.9419 0.9953 1 0.9167 . . . . . rs59265003 COSN20099655;COSN20099658;COSN20099654;COSN20099659;COSN20099656;COSN20099657 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9444 0.9687 0.7914 0.9070 0.8796 0.9531 0.9677 0.9 0.9 0.9965 0.9979 0.9987 0.9908 0.9962 0.9971 0.9957 0.9943 hom 384.16 17 4 86031 . CA C 384.16 Mask AC=2;AF=1.00;AN=2;DP=17;FS=0.000;HRun=2;HaplotypeScore=422.8753;MQ=29.00;MQ0=0;QD=22.60;set=variant2 GT:AD:DP:GQ:PL 1/1:5,12:17:36.10:426,36,0 4 86035 86035 C - exonic ZNF595 unknown UNKNOWN . . . . . . 0.9998 1 1 1 1 0.9997 1 1 . . . . . rs57594632 COSN20099663;COSN20099661;COSN20099660;COSN20099662;COSN20099664;COSN20099665 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9492 0.9704 0.8455 0.8673 0.9190 0.9795 0.9727 0.8975 0.8368 0.9965 0.9976 0.9987 0.9907 0.9968 0.9974 0.9956 0.9943 hom 384.25 12 4 86034 . TC T 384.25 Mask AC=2;AF=1.00;AN=2;DP=12;FS=0.000;HRun=2;HaplotypeScore=321.9773;MQ=29.00;MQ0=0;QD=32.02;set=variant2 GT:AD:DP:GQ:PL 1/1:0,12:12:36.10:426,36,0 4 86101 86101 - C exonic ZNF595 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9998 0.9999 0.9999 0.9999 1 0.9998 1 0.9998 1. 1. 1. 0.14 . rs58319295 COSN15648541;COSN15648525;COSN15648531;COSN15648526;COSN20099667;COSN20099666;COSN15648529;COSN15648543;COSN15648538;COSN20099671;COSN15648540;COSN15648532;COSN15648546;COSN15648539;COSN15648536;COSN15648544;COSN15648530;COSN20099669;COSN20099670;COSN15648537;COSN15648534;COSN15648542;COSN15648533;COSN15648528;COSN15648535;COSN20099668;COSN15648545;COSN15648527 22(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9990 0.9983 0.9988 0.9984 0.9988 0.9998 0.9991 0.9979 0.9988 0.9973 0.9977 0.9988 0.9966 0.9956 0.9983 0.9971 0.9969 hom 3567.88 85 4 86101 . G GC 3567.88 Mask AC=2;AF=1.00;AN=2;DP=85;FS=0.000;HRun=1;HaplotypeScore=331.2051;MQ=54.13;MQ0=0;QD=41.98;set=variant2 GT:AD:DP:GQ:PL 1/1:3,82:85:99:3568,244,0 4 86738 86738 A G exonic ZNF595 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9999 0.9999 1 1 1 0.9999 0.9989 0.9999 . . . 1. . rs2353625 COSN15632154 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 0.9999 1 1 1 1 1 0.9996 1 0.9988 1 1 1 0.9994 0.9990 hom 1854.56 58 4 86738 . A G 1854.56 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.657;DP=58;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.4261;MQ=59.20;MQ0=0;MQRankSum=1.673;QD=31.98;ReadPosRankSum=0.538;VQSLOD=6.2409;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,57:58:99:1888,117,0 4 87277 87277 G C exonic ZNF595 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9999 1 1 1 1 1.0000 1 0.9990 . . . 1. . rs2006764 COSN15634442;COSN15639541;COSN15640361;COSN15631515;COSN15646128;COSN15636977;COSN15637806;COSN15629845;COSN15645267;COSN15646953;COSN15641980;COSN15644448;COSN15632526;COSN15633551;COSN15630694;COSN15635263;COSN15636088;COSN15628989;COSN15638676;COSN15628166;COSN15643619;COSN15641185;COSN15642769 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1 1 1 1 1 1.0000 1 0.9991 0.9999 1 1 1 1 1 0.9999 0.9990 hom 3530.03 114 4 87277 . G C 3530.03 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.92;MQ0=0;QD=30.97;VQSLOD=8.9012;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:114:99:3530,268,0 4 87313 87313 - A exonic ZNF595 unknown UNKNOWN . . . . . . 0.9995 0.9955 0.9997 1 1 1.0000 1 0.9992 1. 1. 1. 0.95 . rs60154095 COSN15648404;COSN20099676;COSN15648423;COSN15648416;COSN15648410;COSN15648403;COSN15648413;COSN15648405;COSN20099677;COSN20099674;COSN15648411;COSN15648412;COSN20099675;COSN15648419;COSN15648414;COSN15648418;COSN15648407;COSN15648421;COSN20099673;COSN15648406;COSN15648424;COSN20083828;COSN15648425;COSN15648409;COSN15648408;COSN15648422;COSN15648415;COSN15648417;COSN15648420;COSN20099672 1(skin);23(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9948 0.9997 1 0.9999 1 1.0000 0.9998 0.9994 0.9983 0.9942 0.9988 1 1 1 1 1 hom 3168.54 76 4 87313 . G GA 3168.54 Mask AC=2;AF=1.00;AN=2;DP=76;FS=0.000;HRun=1;HaplotypeScore=329.8838;MQ=59.93;MQ0=0;QD=41.69;set=variant2 GT:AD:DP:GQ:PL 1/1:2,74:76:99:3211,220,0 4 648643 648643 G A exonic PDE6B nonsynonymous SNV PDE6B:NM_001145292:exon4:c.G121A:p.V41I,PDE6B:NM_001350154:exon4:c.G121A:p.V41I,PDE6B:NM_000283:exon6:c.G958A:p.V320I,PDE6B:NM_001145291:exon6:c.G958A:p.V320I 1. 1. 1. 1. 1. 1. 0.9997 0.9972 0.9998 1 1 1 1 1 1. 1. 1. 1. 1. rs10902758 COSM4159133 1(thyroid) Benign not_specified RCV000153663.3 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.023 0.266 N 0.998 0.230 P -1.185 0.009 N -0.09 0.690 T 0.65 0.028 N 0.124 0.381 -0.951 0.408 T 0.000 0.000 T . . . 1.417 0.233 12.88 0.854 0.153 0.034 0.084 N c -0.946 -0.643 0.998 0.359 0.646 0.450 0 4.67 0.579 2.607 0.457 0.244 0.267 0.983 0.354 0.705 0.310 8.824 0.340 GAF domain|GAF domain-like . . 0.9998 0.9973 0.9999 1 1 1 1 1 1 0.9993 0.9974 1 1 1 1 1 1 hom 5563.40 186 4 648643 . G A 5563.40 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7616;MQ=58.67;MQ0=0;QD=29.91;VQSLOD=5.8622;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5563,436,0 4 663908 663908 A G exonic PDE6B nonsynonymous SNV PDE6B:NM_001350155:exon18:c.A1357G:p.M453V,PDE6B:NM_001350154:exon20:c.A1675G:p.M559V 0.55 0.43 0.64 0.46 0.66 0.62 0.6146 0.4456 0.6184 0.4241 0.6767 0.6500 0.6267 0.6494 0.58 0.44 0.65 0.42 0.59 rs28675771 COSN19623065;COSN20280258 2(haematopoietic_and_lymphoid_tissue) Benign|Benign Congenital_Stationary_Night_Blindness\x2c_Dominant|Retinitis_Pigmentosa\x2c_Recessive RCV000279907.1|RCV000407742.1 MedGen|MedGen CN239263|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6168 0.4400 0.6173 0.5379 0.4258 0.6758 0.6571 0.6172 0.6476 0.5941 0.4511 0.6050 0.6093 0.4345 0.6702 0.6712 0.6639 het 2885.75 216 4 663908 . A G 2885.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.388;DP=216;DS;Dels=0.00;FS=0.677;HRun=0;HaplotypeScore=4.0768;MQ=59.89;MQ0=0;MQRankSum=-1.566;QD=13.36;ReadPosRankSum=1.616;VQSLOD=4.7613;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:109,107:216:99:2916,0,2988 4 843508 843508 C T exonic GAK nonsynonymous SNV GAK:NM_001318134:exon25:c.G3652A:p.D1218N,GAK:NM_005255:exon28:c.G3889A:p.D1297N 0.084 0.0053 0.17 0.13 0.12 0.041 0.1282 0.0260 0.2467 0.1451 0.1579 0.1387 0.1002 0.0422 0.094 0.025 0.13 0.076 0.09 rs1134921 . . . . . . . . . . . . . 0.19 0.258 T 0.999 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.588 P 0.955 0.240 L 1.56 0.296 T -3.76 0.712 D 0.065 0.114 -1.106 0.034 T 0.001 0.002 T . . . 5.013 0.675 25.1 0.999 0.948 0.946 0.613 D c 0.176 0.194 1.000 0.747 0.707 0.730 0 4.76 0.600 7.375 0.787 0.927 0.437 1.000 0.715 0.297 0.237 15.271 0.733 DnaJ domain ENSG00000145217.9|ENSG00000178950.12|ENSG00000145217.9|ENSG00000145217.9|ENSG00000145217.9|ENSG00000145217.9 Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Thyroid 0.1274 0.0234 0.2315 0.0616 0.1397 0.1407 0.1353 0.1194 0.0418 0.1180 0.0268 0.2105 0.0695 0.1506 0.1338 0.1577 0.1493 het 584.13 48 4 843508 . C T 584.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.795;DP=48;Dels=0.00;FS=2.488;HRun=1;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=1.053;QD=12.17;ReadPosRankSum=-0.206;VQSLOD=6.6816;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,25:48:99:614,0,544 4 858941 858941 T C exonic GAK synonymous SNV GAK:NM_001318134:exon20:c.A2898G:p.A966A,GAK:NM_005255:exon23:c.A3135G:p.A1045A 0.98 1. 0.89 1. 0.96 0.99 0.9604 0.9912 0.8694 0.9999 0.9562 0.9603 0.9681 0.9856 0.97 0.99 0.96 0.79 0.86 rs1026738 COSM4159242 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9565 0.9921 0.8744 0.9668 0.9997 0.9597 0.9603 0.9578 0.9846 0.9686 0.9927 0.8783 0.9636 1 0.9628 0.9585 0.9562 hom 1362.13 42 4 858941 . T C 1362.13 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.20;MQ0=0;QD=32.43;VQSLOD=8.3822;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1395,117,0 4 961373 961373 G A exonic DGKQ synonymous SNV DGKQ:NM_001347:exon8:c.C951T:p.V317V 0.4 0.39 0.55 0.34 0.45 0.35 0.4446 0.3901 0.5850 0.3563 0.4783 0.4544 0.4555 0.3734 0.44 0.39 0.46 0.17 0.49 rs1377586 COSM3760842 1(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4494 0.3839 0.5811 0.3481 0.3451 0.4849 0.4580 0.4416 0.3734 0.4239 0.3800 0.5506 0.36 0.3468 0.4759 0.4397 0.4264 het 843.42 73 4 961373 . G A 843.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.766;DP=73;Dels=0.00;FS=4.691;HRun=1;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;MQRankSum=1.010;QD=11.55;ReadPosRankSum=0.348;VQSLOD=5.1770;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,35:73:99:873,0,1004 4 994452 994452 C T exonic IDUA synonymous SNV IDUA:NM_000203:exon3:c.C352T:p.L118L 0.16 0.16 0.2 0.15 0.25 0.055 0.1976 0.1929 0.2290 0.1461 0.2414 0.2288 0.1667 0.0656 0.23 0.2 0.24 0.25 0.24 rs3755954 . . Benign|Likely benign not_specified|Mucopolysaccharidosis_type_I RCV000078392.5|RCV000344018.1 MedGen|MedGen CN169374|C0023786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2016 0.1922 0.2276 0.1317 0.1437 0.2439 0.2387 0.1951 0.0690 0.2399 0.1954 0.2208 0.1424 0.1733 0.2474 0.2735 0.2505 hom 2962.42 98 4 994452 . C T 2962.42 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9772;MQ=58.89;MQ0=0;QD=30.23;VQSLOD=8.2015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:2995,232,0 4 1090625 1090625 G A exonic RNF212 synonymous SNV RNF212:NM_001131034:exon3:c.C174T:p.T58T,RNF212:NM_001193318:exon3:c.C174T:p.T58T,RNF212:NM_194439:exon3:c.C174T:p.T58T 0.55 0.3 0.54 0.65 0.65 0.67 0.6353 0.3433 0.5417 0.6091 0.6810 0.6824 0.6630 0.6880 0.57 0.34 0.69 0.49 0.5 rs4045481 COSM3760328;COSM3760327;COSM3760329 1(bone);3(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6386 0.3374 0.5440 0.7180 0.6144 0.6787 0.6820 0.6589 0.6892 0.5926 0.3423 0.5704 0.7152 0.6348 0.6905 0.7040 0.6748 hom 7860.92 216 4 1090625 . G A 7860.92 Mask AC=2;AF=1.00;AN=2;DP=216;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6806;MQ=59.44;MQ0=0;QD=36.39;VQSLOD=7.4230;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:7860,605,0 4 1164277 1164277 C G exonic SPON2 nonsynonymous SNV SPON2:NM_012445:exon5:c.G724C:p.V242L,SPON2:NM_001128325:exon6:c.G724C:p.V242L,SPON2:NM_001199021:exon7:c.G724C:p.V242L 0.55 0.22 0.71 0.68 0.68 0.63 0.6396 0.2691 0.7586 0.7079 0.6568 0.6731 0.6015 0.6138 0.54 0.28 0.67 0.41 0.38 rs2279279 COSM3760349 1(large_intestine) . . . . . . . . . . . 0.172 0.226 T 0.27 0.300 B 0.071 0.265 B 0.001 0.425 D 0.067 0.370 P 2.665 0.782 M 2.99 0.093 T -1.22 0.309 N 0.089 0.106 -1.010 0.271 T 0.000 0.000 T . . . 2.032 0.305 16.42 0.989 0.484 0.959 0.662 D c -0.108 -0.038 1.000 0.747 0.677 0.550 0 3.83 0.431 2.074 0.409 0.053 0.162 0.997 0.399 0.045 0.161 7.163 0.247 . ENSG00000273179.1|ENSG00000178222.8|ENSG00000273179.1|ENSG00000273179.1|ENSG00000273179.1|ENSG00000178222.8|ENSG00000273179.1|ENSG00000273179.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.6532 0.2684 0.7607 0.6304 0.7054 0.6542 0.6777 0.6615 0.6144 0.5704 0.2789 0.7345 0.6358 0.7141 0.6629 0.6858 0.6731 hom 3666.20 102 4 1164277 . C G 3666.20 Mask AC=2;AF=1.00;AN=2;DP=102;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6205;MQ=59.50;MQ0=0;QD=35.94;VQSLOD=8.0316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3666,295,0 4 1165130 1165130 G T exonic SPON2 nonsynonymous SNV SPON2:NM_012445:exon3:c.C365A:p.A122E,SPON2:NM_001128325:exon4:c.C365A:p.A122E,SPON2:NM_001199021:exon5:c.C365A:p.A122E 0.55 0.23 0.71 0.68 0.68 0.63 0.6624 0.3011 0.7690 0.7186 0.6761 0.6849 0.6033 0.6228 0.56 0.31 0.69 0.2 0.51 rs11247975 COSM3760350 2(thyroid);3(large_intestine) . . . . . . . . . . . 0.446 0.091 T 0.009 0.139 B 0.019 0.176 B 0.036 0.245 N 0.998 0.221 P . . . 1.04 0.402 T 0.15 0.053 N 0.027 0.009 -1.020 0.238 T 0.000 0.000 T . . . 0.112 0.104 3.740 0.848 0.150 0.124 0.171 N c -1.533 -1.642 1.000 0.747 0.685 0.552 0 -8.23 0.009 0.214 0.172 -1.223 0.015 0.001 0.137 0.374 0.250 10.976 0.465 Spondin\x2c N-terminal ENSG00000273179.1|ENSG00000178222.8|ENSG00000273179.1|ENSG00000273179.1|ENSG00000273179.1|ENSG00000178222.8|ENSG00000273179.1|ENSG00000273179.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.6570 0.2687 0.7614 0.6302 0.7082 0.6536 0.6793 0.6633 0.6151 0.5701 0.2789 0.7337 0.6358 0.7141 0.6639 0.6851 0.6731 hom 722.95 26 4 1165130 . G T 722.95 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.29;MQ0=0;QD=27.81;VQSLOD=8.4841;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:63.18:756,63,0 4 1165741 1165741 A G exonic SPON2 nonsynonymous SNV SPON2:NM_012445:exon2:c.T119C:p.L40P,SPON2:NM_001128325:exon3:c.T119C:p.L40P,SPON2:NM_001199021:exon4:c.T119C:p.L40P 0.95 0.82 0.98 1. 1. 1. 0.9866 0.8526 0.9914 0.9999 1 0.9992 0.9943 0.9997 0.96 0.87 1. 0.9 0.98 rs922697 COSM4158759 1(thyroid) . . . . . . . . . . . 0.171 0.267 T 0.053 0.211 B 0.058 0.250 B 0.047 0.234 N 0.872 0.282 P 0.345 0.112 N 2.94 0.309 T -1.25 0.316 N 0.025 0.577 -1.034 0.192 T 0.000 0.000 T . . . 0.603 0.152 8.180 0.797 0.124 0.149 0.184 N c -1.177 -1.158 1.000 0.747 0.677 0.550 0 2.0 0.254 1.701 0.372 -0.264 0.087 0.542 0.270 0.069 0.175 10.217 0.422 Spondin\x2c N-terminal . . 0.9889 0.8512 0.9900 0.9974 0.9999 1 0.9992 0.9913 0.9995 0.9597 0.8596 0.9845 0.9934 1 0.9997 0.9995 0.9969 hom 1998.57 65 4 1165741 . A G 1998.57 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;QD=30.75;VQSLOD=9.0521;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2032,162,0 4 1330759 1330759 T C exonic MAEA nonsynonymous SNV MAEA:NM_001297431:exon5:c.T676C:p.W226R 0.61 0.77 0.7 0.53 0.55 0.48 0.5770 0.7543 0.7981 0.5215 0.5948 0.5392 0.5684 0.4851 0.62 0.75 0.56 0.64 0.49 rs1128427 COSM4414908 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.138 T 0.0 0.026 B 0.001 0.040 B . . . 1.000 0.588 P . . . 0.59 0.540 T -1.17 0.299 N . . -0.970 0.373 T 0.000 0.000 T . . . -0.031 0.091 2.301 0.355 0.022 0.121 0.169 N c -1.734 -1.836 1.000 0.747 0.707 0.730 0 -11.4 0.001 -1.262 0.029 -1.530 0.010 0.004 0.165 0.762 0.325 7.428 0.261 . ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000254094.1|ENSG00000163945.11|ENSG00000196810.4|ENSG00000090316.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.5842 0.7599 0.7884 0.4595 0.5222 0.5813 0.5473 0.5637 0.4881 0.6228 0.7583 0.7691 0.4404 0.5087 0.5831 0.5654 0.5564 hom 4595.08 163 4 1330759 . T C 4595.08 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4082;MQ=58.59;MQ0=0;QD=28.19;VQSLOD=7.4932;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:163:99:4594,370,0 4 1343405 1343405 T C exonic UVSSA synonymous SNV UVSSA:NM_001317934:exon3:c.T192C:p.I64I,UVSSA:NM_001317935:exon3:c.T192C:p.I64I,UVSSA:NM_020894:exon3:c.T192C:p.I64I 0.63 0.85 0.7 0.53 0.54 0.49 0.5806 0.8075 0.8008 0.5114 0.5980 0.5377 0.5689 0.4860 0.64 0.79 0.56 0.66 0.49 rs2276903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5863 0.8133 0.7902 0.4590 0.5118 0.5800 0.5454 0.5641 0.4898 0.6343 0.8063 0.7710 0.4396 0.4907 0.5806 0.5635 0.5543 hom 2195.15 75 4 1343405 . T C 2195.15 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6536;MQ=59.07;MQ0=0;QD=29.27;VQSLOD=8.5271;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2228,187,0 4 1369885 1369885 G A exonic UVSSA synonymous SNV UVSSA:NM_001317934:exon10:c.G1497A:p.A499A,UVSSA:NM_001317935:exon10:c.G1497A:p.A499A,UVSSA:NM_020894:exon10:c.G1497A:p.A499A 0.18 0.037 0.29 0.07 0.38 0.21 0.3676 0.1241 0.3940 0.0796 0.5139 0.4381 0.4078 0.2739 0.28 0.086 0.38 0.15 0.13 rs11724369 COSM5438463 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3158 0.0851 0.3243 0.3361 0.0471 0.4197 0.3863 0.3409 0.2405 0.3021 0.0940 0.3657 0.3179 0.0488 0.4264 0.4140 0.3673 hom 384.85 12 4 1369885 . G A 384.85 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.07;VQSLOD=13.0080;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:36.10:418,36,0 4 1374695 1374695 C A exonic UVSSA synonymous SNV UVSSA:NM_001317934:exon12:c.C1780A:p.R594R,UVSSA:NM_001317935:exon12:c.C1780A:p.R594R,UVSSA:NM_020894:exon12:c.C1780A:p.R594R 0.7 0.7 0.78 0.7 0.67 0.68 0.6940 0.7044 0.8499 0.6866 0.7128 0.6673 0.7101 0.6805 0.69 0.71 0.68 0.66 0.57 rs28614045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6994 0.7037 0.8379 0.5922 0.6911 0.7081 0.6725 0.6782 0.6797 0.6956 0.7032 0.8313 0.5833 0.6937 0.7049 0.6846 0.6837 hom 3360.91 103 4 1374695 . C A 3360.91 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8100;MQ=58.71;MQ0=0;QD=32.63;VQSLOD=9.2007;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3361,259,0 4 1374774 1374774 C T exonic UVSSA nonsynonymous SNV UVSSA:NM_001317934:exon12:c.C1859T:p.P620L,UVSSA:NM_001317935:exon12:c.C1859T:p.P620L,UVSSA:NM_020894:exon12:c.C1859T:p.P620L 0.7 0.7 0.78 0.7 0.67 0.66 0.6946 0.7031 0.8514 0.6888 0.7197 0.6702 0.7108 0.6682 0.69 0.71 0.68 0.65 0.28 rs28522910 COSM4422995 1(haematopoietic_and_lymphoid_tissue);1(central_nervous_system) . . . . . . . . . . . 0.017 0.512 D 0.67 0.392 P 0.035 0.214 B 0.007 0.318 N 0.002 0.467 P 2.125 0.592 M 1.35 0.471 T -6.15 0.902 D 0.2 0.245 -1.015 0.252 T 0.000 0.000 T . . . 4.114 0.552 23.8 0.994 0.623 0.784 0.384 D c -0.124 -0.179 0.997 0.349 0.660 0.495 0 4.56 0.555 5.301 0.653 0.935 0.490 0.607 0.276 0.008 0.104 14.483 0.670 . ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000196810.4|ENSG00000163945.11|ENSG00000090316.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000163945.11|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000163945.11|ENSG00000163945.11|ENSG00000196810.4|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000145217.9|ENSG00000163945.11|ENSG00000159692.11|ENSG00000273179.1|ENSG00000163945.11|ENSG00000159674.7|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000163945.11|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000163945.11|ENSG00000145217.9|ENSG00000163945.11|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000179979.7|ENSG00000254094.1|ENSG00000163945.11|ENSG00000196810.4|ENSG00000179979.7|ENSG00000163945.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.6982 0.7025 0.8381 0.5927 0.6912 0.7088 0.6732 0.6776 0.6662 0.6950 0.7013 0.8317 0.5833 0.6923 0.7053 0.6846 0.6830 hom 1624.64 47 4 1374774 . C T 1624.64 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=34.57;VQSLOD=9.1248;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1658,135,0 4 1377615 1377615 A G exonic UVSSA synonymous SNV UVSSA:NM_001317934:exon13:c.A1923G:p.S641S,UVSSA:NM_001317935:exon13:c.A1923G:p.S641S,UVSSA:NM_020894:exon13:c.A1923G:p.S641S 0.72 0.72 0.79 0.71 0.71 0.68 0.7195 0.7164 0.8674 0.6932 0.7284 0.7052 0.7339 0.6848 0.72 0.72 0.72 0.66 0.69 rs9996817 COSM447388 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7257 0.7158 0.8579 0.6371 0.6983 0.7249 0.7112 0.7086 0.6861 0.7205 0.7138 0.8481 0.6225 0.7077 0.7226 0.7205 0.7156 hom 4152.77 152 4 1377615 . A G 4152.77 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1628;MQ=58.43;MQ0=0;QD=27.32;VQSLOD=3.4314;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,130:152:99:4039,337,0 4 1388375 1388375 - CA exonic CRIPAK frameshift insertion CRIPAK:NM_175918:exon1:c.76_77insCA:p.C27Hfs*163 0.16 0.2 0.14 0.028 0.23 0.17 0.0001 0.0003 0 0 0 0.0001 0 0.0002 . . . . . rs533172496 COSM1427135 2(breast);1(oesophagus);1(skin);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.08e-05 0 0 0 0 0 2.418e-05 0 0 0.0008 0 0 0 0 0 0.0021 0 het 979.05 228 4 1388375 . T TCA 979.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.100;DP=228;DS;FS=31.531;HRun=0;HaplotypeScore=2131.2808;MQ=52.99;MQ0=0;MQRankSum=0.953;QD=3.92;ReadPosRankSum=-1.056;set=variant2 GT:AD:DP:GQ:PL 0/1:221,29:228:99:1018,0,7096 4 1388504 1388505 CG - exonic CRIPAK frameshift deletion CRIPAK:NM_175918:exon1:c.205_206del:p.R69Cfs*337 0.011 0.017 0.0043 0.002 0.017 0.0092 0.0016 0.0050 0.0004 0.0001 0.0003 0.0019 0 0.0002 . . . . . rs568118449 COSM1427136 1(bone);1(haematopoietic_and_lymphoid_tissue);1(lung);1(thyroid);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0017 0.0001 0.0004 0 0.0130 0.0020 0.0012 0.0003 0.0012 0.0002 0.0017 0.0047 0 0 0.0022 0 het 775.33 235 4 1388503 . ACG A 775.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.924;DP=235;DS;FS=30.303;HRun=0;HaplotypeScore=1133.5510;MQ=51.77;MQ0=0;MQRankSum=-3.799;QD=3.10;ReadPosRankSum=4.205;set=variant2 GT:AD:DP:GQ:PL 0/1:211,39:235:99:814,0,10213 4 1388622 1388622 - CA exonic CRIPAK frameshift insertion CRIPAK:NM_175918:exon1:c.323_324insCA:p.C110Rfs*80 0.1 0.057 0.14 0.017 0.18 0.14 0.0657 0.0257 0.0463 0.0033 0.1474 0.0881 0.1 0.0509 . . . . . rs540461234 COSM1427139 2(breast);1(NS);1(oesophagus);3(upper_aerodigestive_tract);4(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0192 0.0046 0.0193 0.0069 0.0004 0.0719 0.0236 0.0174 0.0053 0.0220 0.0057 0.0657 0.0379 0.0023 0.0849 0.0265 0.0322 hom 4816.89 134 4 1388622 . T TCA 4816.89 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.137;DP=134;DS;FS=0.000;HRun=0;HaplotypeScore=1157.3005;MQ=33.29;MQ0=14;MQRankSum=1.482;QD=23.05;ReadPosRankSum=-0.118;set=variant2 GT:AD:DP:GQ:PL 1/1:95,84:134:99:4817,218,0 4 1656801 1656801 A C exonic FAM53A synonymous SNV FAM53A:NM_001013622:exon4:c.T786G:p.P262P,FAM53A:NM_001174070:exon4:c.T786G:p.P262P,FAM53A:NM_001297435:exon4:c.T786G:p.P262P 0.23 0.13 0.23 0.061 0.37 0.41 0.3176 0.1606 0.1935 0.0719 0.2982 0.3623 0.3710 0.4503 0.28 0.15 0.34 0.15 0.29 rs62287700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2949 0.1391 0.1765 0.4220 0.0617 0.2847 0.3405 0.3291 0.4306 0.2504 0.1454 0.1854 0.4172 0.0561 0.2930 0.3213 0.2762 het 527.89 45 4 1656801 . A C 527.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.962;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8572;MQ=58.97;MQ0=0;MQRankSum=-1.147;QD=11.73;ReadPosRankSum=-1.487;VQSLOD=5.2795;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:558,0,637 4 1657281 1657281 G A exonic FAM53A synonymous SNV FAM53A:NM_001013622:exon4:c.C306T:p.T102T,FAM53A:NM_001174070:exon4:c.C306T:p.T102T,FAM53A:NM_001297435:exon4:c.C306T:p.T102T 0.22 0.099 0.23 0.059 0.37 0.41 0.3615 0.1786 0.2316 0.0942 0.3489 0.3970 0.4110 0.4990 0.25 0.12 0.31 0.13 0.16 rs79735962 COSM5438355 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2986 0.1237 0.1852 0.4323 0.0646 0.2841 0.3451 0.3331 0.4358 0.2426 0.1239 0.1835 0.4133 0.0543 0.2911 0.3189 0.2715 het 129.11 10 4 1657281 . G A 129.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;MQRankSum=0.103;QD=12.91;ReadPosRankSum=0.470;VQSLOD=6.1243;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:159,0,129 4 1701317 1701317 G A exonic SLBP synonymous SNV SLBP:NM_001306074:exon4:c.C348T:p.Y116Y,SLBP:NM_001306075:exon4:c.C336T:p.Y112Y,SLBP:NM_006527:exon5:c.C453T:p.Y151Y 0.39 0.13 0.37 0.69 0.33 0.51 0.3847 0.1693 0.3703 0.6947 0.4340 0.3478 0.4075 0.4961 0.29 0.18 0.34 0.4 0.38 rs2247341 . . . . . . . Height . .03 20881960 rs2247341 2E-11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3861 0.1638 0.3633 0.3510 0.6892 0.4269 0.3427 0.3923 0.4898 0.3158 0.1670 0.3888 0.3179 0.6872 0.4126 0.3303 0.4016 het 1898.33 151 4 1701317 . G A 1898.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.913;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6980;MQ=58.53;MQ0=0;MQRankSum=0.766;QD=12.57;ReadPosRankSum=-1.567;VQSLOD=5.8330;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,78:151:99:1928,0,1789 4 1729556 1729556 G A exonic TACC3 nonsynonymous SNV TACC3:NM_006342:exon4:c.G427A:p.E143K 0.064 0.012 0.094 0.001 0.16 0.085 0.1231 0.0373 0.0775 0.0006 0.0707 0.1722 0.1140 0.0977 0.14 0.047 0.18 0.022 0.14 rs34205238 COSM5904799 1(skin) . . . . . . . . . . . 0.756 0.035 T 0.017 0.163 B 0.005 0.104 B 0.204 0.033 N 1 0.090 P 0 0.065 N 3.01 0.414 T -0.4 0.140 N 0.036 0.310 -1.074 0.086 T 0.000 0.001 T . . . -0.396 0.062 0.395 0.890 0.179 0.028 0.074 N c -1.351 -1.431 1.000 0.747 0.733 0.969 0 -3.31 0.046 -0.094 0.110 -0.934 0.025 0.000 0.063 0.000 0.016 5.146 0.142 . ENSG00000168936.6|ENSG00000168936.6|ENSG00000168936.6|ENSG00000218422.2|ENSG00000168936.6|ENSG00000013810.14|ENSG00000013810.14|ENSG00000013810.14|ENSG00000218422.2|ENSG00000168936.6|ENSG00000218422.2|ENSG00000218422.2|ENSG00000168936.6|ENSG00000218422.2|ENSG00000168936.6|ENSG00000013810.14|ENSG00000218422.2|ENSG00000013810.14|ENSG00000168936.6|ENSG00000218422.2|ENSG00000168936.6|ENSG00000013810.14|ENSG00000168936.6|ENSG00000168936.6|ENSG00000168936.6|ENSG00000168936.6|ENSG00000168936.6|ENSG00000168936.6|ENSG00000168936.6|ENSG00000218422.2|ENSG00000168936.6|ENSG00000218422.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.1229 0.0341 0.0819 0.2028 0.0006 0.0735 0.1755 0.1316 0.0983 0.1084 0.0356 0.0811 0.1921 0.0018 0.0779 0.1693 0.1082 het 2768.98 190 4 1729556 . G A 2768.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.113;DP=190;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.8888;MQ=59.17;MQ0=0;MQRankSum=-1.568;QD=14.57;ReadPosRankSum=-1.129;VQSLOD=3.2880;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:95,95:190:99:2799,0,2733 4 1730215 1730215 C G exonic TACC3 synonymous SNV TACC3:NM_006342:exon4:c.C1086G:p.G362G 0.14 0.19 0.12 0.012 0.18 0.16 0.1607 0.1931 0.0920 0.0115 0.0862 0.1934 0.1486 0.1664 0.2 0.2 0.2 0.043 0.16 rs798757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1569 0.1934 0.0981 0.2401 0.0112 0.0913 0.1949 0.1651 0.1666 0.1655 0.1872 0.0981 0.2483 0.0105 0.0975 0.1891 0.1439 het 475.84 58 4 1730215 . C G 475.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.760;DP=58;Dels=0.00;FS=2.373;HRun=2;HaplotypeScore=2.8937;MQ=59.03;MQ0=0;MQRankSum=1.197;QD=8.20;ReadPosRankSum=-0.728;VQSLOD=5.6171;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,21:58:99:506,0,1089 4 1730299 1730299 A G exonic TACC3 synonymous SNV TACC3:NM_006342:exon4:c.A1170G:p.A390A 0.31 0.32 0.32 0.16 0.44 0.29 0.3737 0.3398 0.2974 0.1747 0.3455 0.4386 0.3617 0.3029 0.42 0.35 0.45 0.25 0.29 rs798759 COSM3760483 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3721 0.3364 0.3070 0.3935 0.1800 0.3484 0.4469 0.3797 0.3061 0.3945 0.3414 0.2986 0.4172 0.1828 0.3584 0.4623 0.3850 het 1174.36 113 4 1730299 . A G 1174.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.092;DP=113;Dels=0.00;FS=1.883;HRun=2;HaplotypeScore=3.7150;MQ=60.00;MQ0=0;MQRankSum=0.337;QD=10.39;ReadPosRankSum=-1.351;VQSLOD=5.4539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,52:113:99:1204,0,1651 4 1737502 1737502 C T exonic TACC3 synonymous SNV TACC3:NM_006342:exon8:c.C1689T:p.F563F 0.39 0.13 0.37 0.69 0.34 0.49 0.3891 0.1701 0.3596 0.6978 0.4370 0.3587 0.4056 0.4886 0.29 0.18 0.35 0.4 0.35 rs11248073 COSM5540059 1(breast);1(NS) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3889 0.1629 0.3568 0.3684 0.6888 0.4317 0.3515 0.3938 0.4792 0.3205 0.1658 0.3842 0.3344 0.6852 0.4186 0.3387 0.4088 het 3817.79 230 4 1737502 . C T 3817.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.096;DP=230;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.1624;MQ=58.89;MQ0=0;MQRankSum=1.022;QD=16.60;ReadPosRankSum=0.899;VQSLOD=5.0797;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,126:230:99:3275,0,2347 4 1807894 1807894 G A exonic FGFR3 synonymous SNV FGFR3:NM_022965:exon12:c.G1617A:p.T539T,FGFR3:NM_000142:exon14:c.G1953A:p.T651T,FGFR3:NM_001163213:exon14:c.G1959A:p.T653T 0.96 0.84 0.99 1. 1. 1. 0.9873 0.8619 0.9932 1 1 0.9995 0.9943 0.9999 0.96 0.87 1. 0.97 0.72 rs7688609 . . Benign not_specified RCV000445200.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9901 0.8577 0.9939 1 1 1 0.9996 0.9958 0.9997 0.9604 0.8608 0.9988 1 1 1 0.9997 0.9929 hom 1428.20 41 4 1807894 . G A 1428.20 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=34.83;VQSLOD=9.4451;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1461,117,0 4 1818594 1818594 C T exonic LETM1 synonymous SNV LETM1:NM_012318:exon12:c.G1791A:p.K597K 0.96 0.86 0.99 1. 1. 1. 0.9888 0.8768 0.9960 1 1 0.9997 0.9956 0.9999 0.96 0.88 1. 0.96 1. rs9328763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9914 0.8757 0.9957 1 1 1 0.9997 0.9969 0.9997 0.9652 0.8775 1 1 1 1 0.9998 0.9939 hom 3664.19 119 4 1818594 . C T 3664.19 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;QD=30.79;VQSLOD=9.3509;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3664,286,0 4 1834666 1834666 T C exonic LETM1 synonymous SNV LETM1:NM_012318:exon6:c.A885G:p.E295E 0.012 0.0015 0.016 0.001 0.036 0.0082 0.0222 0.0063 0.0143 0.0003 0.0139 0.0333 0.0188 0.0081 0.026 0.0079 0.035 . 0.049 rs140729898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0220 0.0061 0.0162 0.0074 5.8e-05 0.0138 0.0361 0.0239 0.0082 0.0197 0.0057 0.0179 0.0066 0 0.0149 0.0319 0.0132 het 1388.27 102 4 1834666 . T C 1388.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.858;DP=102;Dels=0.00;FS=1.892;HRun=0;HaplotypeScore=2.8164;MQ=58.51;MQ0=0;MQRankSum=1.554;QD=13.61;ReadPosRankSum=0.717;VQSLOD=4.1428;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,49:102:99:1418,0,1398 4 1843324 1843324 C T exonic LETM1 nonsynonymous SNV LETM1:NM_012318:exon3:c.G344A:p.R115H 0.02 0.0045 0.037 0.001 0.056 0.013 0.0437 0.0102 0.0270 0.0001 0.0278 0.0648 0.0453 0.0201 0.048 0.013 0.066 0.011 0.057 rs116753949 COSM5001958 1(pancreas) . . . . . . . . . . . 0.549 0.066 T 0.003 0.102 B 0.002 0.063 B 0.086 0.024 N 1 0.090 N -0.345 0.033 N . . . -0.76 0.212 N 0.062 0.047 -1.081 0.070 T 0.007 0.024 T . . . 1.092 0.199 11.17 0.920 0.207 0.080 0.138 N c -0.970 -0.970 0.998 0.370 0.707 0.730 0 2.04 0.257 0.339 0.195 0.935 0.490 0.000 0.063 0.002 0.062 3.648 0.077 . . . 0.0433 0.0102 0.0274 0.0720 0.0001 0.0273 0.0661 0.0496 0.0200 0.0361 0.0097 0.0322 0.0795 0 0.0335 0.0553 0.0348 het 1550.14 132 4 1843324 . C T 1550.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.990;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9479;MQ=58.06;MQ0=1;MQRankSum=1.126;QD=11.74;ReadPosRankSum=-0.245;VQSLOD=4.7486;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,62:132:99:1580,0,1819 4 2200366 2200366 G A exonic POLN nonsynonymous SNV POLN:NM_181808:exon6:c.C793T:p.P265S 0.0002 . 0.0014 . . . 0.0019 0.0005 0.0012 0 0.0003 0.0031 0.0011 0 0.0027 0.0002 0.004 . . rs140869775 . . . . . . . . . . . . . 0.585 0.059 T 0.002 0.090 B 0.001 0.040 B 0.000 0.002 N 1 0.090 N -0.35 0.031 N 3.47 0.052 T -0.44 0.146 N 0.145 0.171 -0.947 0.415 T 0.008 0.029 T 0.002 0.032 T -2.147 0.006 0.001 0.414 0.030 0.006 0.026 N c -1.469 -1.506 0.003 0.097 0.554 0.246 0 -5.09 0.027 -0.069 0.114 0.089 0.194 0.000 0.063 0.000 0.016 8.032 0.295 . . . 0.0019 0.0005 0.0016 0.0064 0 0.0004 0.0030 0.0011 0 0.0016 0.0007 0 0.0099 0 0.0003 0.0025 0 het 2060.64 145 4 2200366 . G A 2060.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DP=145;Dels=0.00;FS=0.676;HRun=0;HaplotypeScore=5.1357;MQ=59.26;MQ0=0;MQRankSum=0.888;QD=14.21;ReadPosRankSum=-1.076;VQSLOD=3.6954;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,78:145:99:2091,0,1668 4 2275835 2275835 G A exonic ZFYVE28 synonymous SNV ZFYVE28:NM_001172656:exon8:c.C2070T:p.F690F,ZFYVE28:NM_001172659:exon9:c.C1950T:p.F650F,ZFYVE28:NM_020972:exon9:c.C2160T:p.F720F 0.36 0.36 0.51 0.12 0.54 0.29 0.4678 0.3605 0.5685 0.1166 0.5749 0.5335 0.4646 0.3416 0.47 0.35 0.54 0.39 0.56 rs2051561 COSM3760552 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4779 0.3563 0.5638 0.5011 0.1174 0.5695 0.5391 0.5069 0.3469 0.4728 0.3611 0.5358 0.4967 0.1094 0.5599 0.5486 0.5390 het 1543.30 125 4 2275835 . G A 1543.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.020;DP=125;Dels=0.00;FS=2.377;HRun=2;HaplotypeScore=2.9830;MQ=59.37;MQ0=0;MQRankSum=-0.865;QD=12.35;ReadPosRankSum=1.618;VQSLOD=5.8578;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,61:125:99:1573,0,1612 4 2306053 2306053 A G exonic ZFYVE28 nonsynonymous SNV ZFYVE28:NM_001172656:exon7:c.T1924C:p.S642P,ZFYVE28:NM_001172659:exon8:c.T1804C:p.S602P,ZFYVE28:NM_020972:exon8:c.T2014C:p.S672P 0.72 0.65 0.76 0.68 0.83 0.72 0.7923 0.6886 0.6859 0.7089 0.8789 0.8399 0.8009 0.7490 0.78 0.69 0.83 0.63 0.7 rs661301 COSM447735 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(thyroid) . . . . . . . . . . . 0.17 0.232 T 0.0 0.026 B 0.0 0.013 B 0.001 0.008 N 1 0.090 P 0.14 0.088 N 0.31 0.586 T -1.62 0.427 N 0.019 0.007 -1.006 0.280 T 0.000 0.000 T . . . -0.286 0.069 0.714 0.903 0.190 0.004 0.020 N c -1.571 -1.675 1.000 0.416 0.554 0.283 0 -6.27 0.018 -1.540 0.023 -1.058 0.020 0.000 0.063 0.000 0.016 2.167 0.036 . . . 0.7858 0.6860 0.6917 0.7781 0.7074 0.8763 0.8382 0.7917 0.7440 0.7892 0.6962 0.7303 0.8079 0.6954 0.8731 0.8354 0.8086 hom 2636.03 79 4 2306053 . A G 2636.03 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.9979;MQ=59.47;MQ0=0;QD=33.37;VQSLOD=9.8919;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2669,211,0 4 2306259 2306259 C T exonic ZFYVE28 nonsynonymous SNV ZFYVE28:NM_001172656:exon7:c.G1718A:p.S573N,ZFYVE28:NM_001172659:exon8:c.G1598A:p.S533N,ZFYVE28:NM_020972:exon8:c.G1808A:p.S603N 0.078 0.072 0.1 . 0.12 0.11 0.0935 0.0838 0.0598 0.0004 0.0770 0.1142 0.1030 0.0962 0.097 0.074 0.11 0.098 0.11 rs17768776 COSM3760553 1(large_intestine) . . . . . . . . . . . 0.231 0.186 T 0.231 0.289 B 0.082 0.276 B 0.132 0.028 N 1 0.090 P 0.345 0.112 N 0.33 0.583 T -0.77 0.242 N 0.006 0.006 -1.031 0.200 T 0.002 0.007 T . . . 1.085 0.198 11.14 0.987 0.448 0.028 0.074 N c -0.798 -0.764 0.974 0.295 0.615 0.372 0 3.3 0.368 0.556 0.230 0.892 0.403 0.001 0.137 0.020 0.134 3.866 0.085 . ENSG00000013810.14 Brain_Cortex 0.0896 0.0796 0.0588 0.1056 0.0005 0.0771 0.1134 0.1094 0.0928 0.0866 0.0756 0.0549 0.1291 0 0.0764 0.1054 0.0918 het 674.26 50 4 2306259 . C T 674.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.311;DP=50;Dels=0.00;FS=10.991;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.515;QD=13.49;ReadPosRankSum=-0.379;VQSLOD=4.0675;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,24:50:99:704,0,754 4 2341194 2341194 T C exonic ZFYVE28 synonymous SNV ZFYVE28:NM_001172658:exon3:c.A366G:p.A122A,ZFYVE28:NM_001172656:exon4:c.A507G:p.A169A,ZFYVE28:NM_001172657:exon4:c.A507G:p.A169A,ZFYVE28:NM_001172659:exon4:c.A297G:p.A99A,ZFYVE28:NM_001172660:exon4:c.A297G:p.A99A,ZFYVE28:NM_020972:exon4:c.A507G:p.A169A 0.64 0.69 0.71 0.7 0.58 0.53 0.6036 0.6921 0.7606 0.6842 0.5799 0.5724 0.5867 0.5325 0.61 0.68 0.57 0.72 0.65 rs2071680 COSM4159006 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6041 0.6886 0.7515 0.5294 0.6871 0.5651 0.5721 0.6076 0.5217 0.6210 0.6911 0.7416 0.5533 0.6634 0.5633 0.5847 0.6061 het 569.14 54 4 2341194 . T C 569.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.152;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7900;MQ=60.00;MQ0=0;MQRankSum=-0.245;QD=10.54;ReadPosRankSum=-0.752;VQSLOD=6.1872;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,23:54:99:599,0,873 4 2743999 2743999 A G exonic TNIP2 synonymous SNV TNIP2:NM_001292016:exon5:c.T1026C:p.A342A,TNIP2:NM_001161527:exon6:c.T954C:p.A318A,TNIP2:NM_024309:exon6:c.T1275C:p.A425A 0.79 0.8 0.88 0.61 0.82 0.86 0.8157 0.8047 0.9160 0.5894 0.8135 0.8209 0.8310 0.8699 0.8 0.79 0.81 0.75 0.48 rs232712 COSM1753701 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8103 0.8005 0.9107 0.8011 0.5640 0.8129 0.8157 0.8240 0.8667 0.7915 0.7970 0.9125 0.8278 0.5616 0.7993 0.8018 0.8200 hom 955.74 34 4 2743999 . A G 955.74 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=28.11;VQSLOD=8.1872;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:84.23:989,84,0 4 2744087 2744087 G A exonic TNIP2 nonsynonymous SNV TNIP2:NM_001292016:exon5:c.C938T:p.A313V,TNIP2:NM_001161527:exon6:c.C866T:p.A289V,TNIP2:NM_024309:exon6:c.C1187T:p.A396V 0.34 0.065 0.57 0.39 0.42 0.44 0.4335 0.1346 0.6765 0.3791 0.3768 0.4394 0.4286 0.4760 0.33 0.14 0.43 0.24 0.2 rs2269495 COSM447768 1(liver);1(large_intestine) . . . . . . . . . . . 0.054 0.386 T 0.617 0.379 P 0.173 0.338 B 0.943 0.083 N 1 0.090 P 1.3 0.327 L 1.12 0.387 T -1.76 0.416 N 0.03 0.029 -0.926 0.447 T 0.000 0.000 T . . . 1.048 0.195 10.93 0.998 0.843 0.193 0.204 N c -0.526 -0.648 0.962 0.285 0.707 0.730 0 1.99 0.253 0.797 0.265 0.133 0.217 0.015 0.189 0.087 0.184 12.816 0.569 . ENSG00000125386.10 Thyroid 0.4375 0.1270 0.6719 0.3560 0.3712 0.3753 0.4377 0.4289 0.4551 0.3249 0.1301 0.6298 0.3576 0.3585 0.3735 0.4021 0.3845 hom 1472.01 50 4 2744087 . G A 1472.01 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=29.44;VQSLOD=8.2222;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1505,126,0 4 2822467 2822467 G T exonic SH3BP2 synonymous SNV SH3BP2:NM_001122681:exon2:c.G123T:p.L41L,SH3BP2:NM_001145855:exon2:c.G207T:p.L69L,SH3BP2:NM_001145856:exon2:c.G294T:p.L98L,SH3BP2:NM_003023:exon2:c.G123T:p.L41L 0.37 0.11 0.49 0.46 0.43 0.49 0.4514 0.1567 0.6140 0.4645 0.4476 0.4557 0.4770 0.4972 0.35 0.16 0.45 0.34 0.13 rs231402 COSM5829894;COSM5829895;COSM3760563;COSM3760562 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Fibrous_dysplasia_of_jaw RCV000251161.1|RCV000343320.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0008029:118400:ORPHA184:76098004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4536 0.1481 0.6046 0.4051 0.4474 0.4405 0.4480 0.4463 0.4912 0.3608 0.1535 0.5789 0.4106 0.4394 0.4346 0.4370 0.4459 het 1236.29 89 4 2822467 . G T 1236.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.249;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5317;MQ=59.22;MQ0=0;MQRankSum=-1.227;QD=13.89;ReadPosRankSum=-1.210;VQSLOD=5.5732;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,44:89:99:1266,0,1448 4 2826400 2826400 T C exonic SH3BP2 synonymous SNV SH3BP2:NM_001122681:exon4:c.T300C:p.H100H,SH3BP2:NM_001145855:exon4:c.T384C:p.H128H,SH3BP2:NM_001145856:exon4:c.T471C:p.H157H,SH3BP2:NM_003023:exon4:c.T300C:p.H100H 0.79 0.99 0.83 0.55 0.72 0.8 0.7538 0.9549 0.8879 0.5339 0.6852 0.7198 0.7754 0.8108 0.8 0.94 0.72 0.78 0.67 rs3213501 COSM4159019;COSM4408501 1(liver);1(thyroid) Benign|Benign not_specified|Fibrous_dysplasia_of_jaw RCV000242874.1|RCV000349992.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0008029:118400:ORPHA184:76098004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7550 0.9575 0.8872 0.7288 0.5288 0.6800 0.7239 0.7578 0.8114 0.7745 0.9490 0.8780 0.7367 0.5100 0.6675 0.7234 0.7367 het 1031.04 78 4 2826400 . T C 1031.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.294;DP=78;Dels=0.00;FS=3.160;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=-0.105;QD=13.22;ReadPosRankSum=-0.625;VQSLOD=6.5395;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:1061,0,1117 4 2831383 2831383 T G exonic SH3BP2 synonymous SNV SH3BP2:NM_001122681:exon8:c.T750G:p.A250A,SH3BP2:NM_001145855:exon8:c.T834G:p.A278A,SH3BP2:NM_001145856:exon8:c.T921G:p.A307A,SH3BP2:NM_003023:exon8:c.T750G:p.A250A 0.47 0.35 0.52 0.47 0.49 0.55 0.5037 0.3732 0.6418 0.4544 0.4596 0.4948 0.5278 0.5656 0.45 0.37 0.5 0.45 0.35 rs231399 COSM1131132 1(prostate);2(thyroid) Benign|Benign not_specified|Fibrous_dysplasia_of_jaw RCV000246559.1|RCV000386904.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0008029:118400:ORPHA184:76098004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5090 0.3726 0.6408 0.4839 0.4482 0.4591 0.4944 0.5060 0.5642 0.4523 0.3761 0.6211 0.5099 0.4412 0.4534 0.4836 0.5031 het 930.44 81 4 2831383 . T G 930.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.555;DP=81;Dels=0.00;FS=0.859;HRun=1;HaplotypeScore=1.9983;MQ=60.00;MQ0=0;MQRankSum=0.649;QD=11.49;ReadPosRankSum=-0.204;VQSLOD=6.4953;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,37:81:99:960,0,1061 4 2906707 2906707 G T exonic ADD1 nonsynonymous SNV ADD1:NM_001119:exon10:c.G1378T:p.G460W,ADD1:NM_014189:exon10:c.G1378T:p.G460W,ADD1:NM_014190:exon10:c.G1378T:p.G460W,ADD1:NM_176801:exon10:c.G1378T:p.G460W,ADD1:NM_001286645:exon11:c.G1378T:p.G460W 0.21 0.049 0.17 0.45 0.2 0.2 0.2019 0.0796 0.2091 0.4760 0.1869 0.1923 0.2192 0.1744 0.16 0.086 0.2 0.22 0.25 rs4961 COSM3760567;COSM3760566 7(soft_tissue);1(large_intestine) other|drug response Hypertension\x2c_salt-sensitive_essential\x2c_susceptibility_to|furosemide_and_spironolactone_response_-_Efficacy RCV000019936.2|RCV000211330.1 MedGen CN236476 . . . . . . 0.029 0.457 D 0.997 0.899 D 0.972 0.971 D 0.000 0.843 D 0.000 0.588 P 2.14 0.601 M 2.05 0.207 T -1.29 0.513 N 0.627 0.651 -0.946 0.417 T 0.000 0.000 T . . . 6.127 0.845 28.4 0.996 0.755 0.974 0.746 D c 0.460 0.523 1.000 0.747 0.707 0.730 0 5.55 0.832 5.676 0.676 1.048 0.713 1.000 0.715 0.913 0.390 19.496 0.950 . ENSG00000249673.2|ENSG00000249673.2|ENSG00000249673.2|ENSG00000249673.2|ENSG00000109736.10 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial|Thyroid 0.2027 0.0766 0.2030 0.1473 0.4709 0.1857 0.1949 0.1915 0.1751 0.1700 0.0794 0.2069 0.1556 0.4671 0.1880 0.1845 0.1755 het 1400.29 89 4 2906707 . G T 1400.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.019;DP=89;Dels=0.00;FS=7.137;HRun=0;HaplotypeScore=2.7834;MQ=59.74;MQ0=0;MQRankSum=-1.646;QD=15.73;ReadPosRankSum=0.311;VQSLOD=4.0899;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,51:89:99:1430,0,1103 4 2916762 2916762 C G exonic ADD1 nonsynonymous SNV ADD1:NM_001119:exon13:c.C1757G:p.S586C,ADD1:NM_014189:exon13:c.C1850G:p.S617C,ADD1:NM_014190:exon13:c.C1757G:p.S586C,ADD1:NM_176801:exon13:c.C1850G:p.S617C,ADD1:NM_001286645:exon15:c.C1850G:p.S617C 0.24 0.17 0.18 0.45 0.19 0.2 0.2136 0.1797 0.2245 0.4824 0.1974 0.1881 0.2295 0.1902 0.18 0.18 0.18 0.28 0.25 rs4963 COSM3760568;COSM3760569 8(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.053 0.388 T 0.375 0.508 B 0.345 0.521 B 0.355 0.138 N 1 0.090 P 0.895 0.225 L 2.16 0.192 T -0.91 0.251 N 0.051 0.293 -0.888 0.492 T 0.000 0.000 T . . . 3.441 0.472 23.0 0.934 0.225 0.321 0.243 N c -0.401 -0.379 0.994 0.333 0.742 0.982 0 4.6 0.564 1.751 0.377 0.065 0.171 0.028 0.201 0.654 0.299 16.421 0.835 . ENSG00000249673.2|ENSG00000249673.2|ENSG00000249673.2|ENSG00000249673.2|ENSG00000125388.15 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg 0.2028 0.1715 0.2052 0.1669 0.4706 0.1816 0.1807 0.1880 0.1734 0.1870 0.1699 0.2045 0.1788 0.4703 0.1803 0.1682 0.1721 het 561.20 41 4 2916762 . C G 561.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.274;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=0.143;QD=13.69;ReadPosRankSum=1.108;VQSLOD=6.6652;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,21:41:99:591,0,566 4 2951804 2951804 A G exonic NOP14 nonsynonymous SNV NOP14:NM_001291978:exon8:c.T1139C:p.L380S,NOP14:NM_001291979:exon8:c.T1139C:p.L380S,NOP14:NM_003703:exon8:c.T1139C:p.L380S 0.41 0.68 0.41 0.19 0.44 0.22 0.4067 0.6336 0.3887 0.1828 0.5364 0.4294 0.4174 0.2495 0.5 0.63 0.43 0.43 0.44 rs2515960 COSM4415675;COSM4415676 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.377 N 0.988 0.244 P -3.31 0.000 N 1.61 0.284 T 3.94 0.001 N 0.045 0.118 -0.971 0.370 T 0.000 0.000 T . . . 0.800 0.170 9.464 0.778 0.116 0.108 0.160 N c -0.751 -0.465 1.000 0.747 0.672 0.522 0 5.43 0.789 4.034 0.568 0.138 0.222 1.000 0.715 0.247 0.227 13.176 0.589 . ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000251075.1|ENSG00000109736.10|ENSG00000087269.11|ENSG00000125388.15|ENSG00000249673.2|ENSG00000125388.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Ovary|Ovary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4046 0.6373 0.3821 0.4414 0.1803 0.5366 0.4255 0.4180 0.2531 0.4917 0.6339 0.3849 0.3974 0.1772 0.5255 0.4461 0.4459 het 3124.13 246 4 2951804 . A G 3124.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.739;DP=246;DS;Dels=0.00;FS=2.854;HRun=0;HaplotypeScore=8.3016;MQ=59.29;MQ0=0;MQRankSum=0.608;QD=12.70;ReadPosRankSum=-0.381;VQSLOD=4.7759;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,122:246:99:3154,0,3662 4 2990499 2990499 G T exonic GRK4 nonsynonymous SNV GRK4:NM_001004056:exon2:c.G98T:p.R33L,GRK4:NM_005307:exon2:c.G98T:p.R33L,GRK4:NM_001004057:exon3:c.G194T:p.R65L,GRK4:NM_182982:exon3:c.G194T:p.R65L 0.31 0.54 0.33 0.094 0.38 0.16 0.3256 0.4950 0.3092 0.0883 0.4416 0.3572 0.3502 0.1791 0.4 0.49 0.36 0.32 0.34 rs2960306 COSM3760571 1(large_intestine) . . . . . . . . . . . 0.303 0.143 T 0.0 0.026 B 0.0 0.040 B 0.000 0.469 N 1.000 0.210 P -1.995 0.002 N 4.57 0.019 T 3.29 0.001 N 0.05 0.034 -1.046 0.154 T 0.000 0.000 T . . . 3.204 0.444 22.7 0.963 0.286 0.091 0.148 N c -0.756 -0.425 0.100 0.164 0.487 0.133 0 5.56 0.836 3.344 0.516 0.032 0.150 1.000 0.715 0.998 0.697 11.195 0.477 RGS domain ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000251075.1|ENSG00000109736.10|ENSG00000087269.11|ENSG00000125388.15|ENSG00000249673.2|ENSG00000125388.15|ENSG00000125388.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood 0.3228 0.4974 0.3025 0.2912 0.0873 0.4385 0.3587 0.3408 0.1835 0.3936 0.5046 0.3153 0.2682 0.0847 0.4260 0.3645 0.3538 het 1298.72 105 4 2990499 . G T 1298.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.363;DP=105;Dels=0.00;FS=1.606;HRun=1;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;MQRankSum=1.529;QD=12.37;ReadPosRankSum=0.516;VQSLOD=5.9974;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,51:105:99:1329,0,1323 4 2993980 2993980 T C exonic GRK4 synonymous SNV GRK4:NM_001004056:exon3:c.T204C:p.D68D,GRK4:NM_005307:exon3:c.T204C:p.D68D,GRK4:NM_001004057:exon4:c.T300C:p.D100D,GRK4:NM_182982:exon4:c.T300C:p.D100D 0.29 0.46 0.33 0.094 0.38 0.15 0.3212 0.4344 0.3061 0.0886 0.4436 0.3590 0.3480 0.1788 0.38 0.43 0.36 0.29 0.29 rs2515941 COSM3760572 1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3195 0.4365 0.2978 0.3207 0.0873 0.4413 0.3583 0.3391 0.1828 0.3767 0.4426 0.3086 0.2881 0.0841 0.4287 0.3652 0.3525 het 1312.58 110 4 2993980 . T C 1312.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.727;DP=110;Dels=0.00;FS=3.561;HRun=0;HaplotypeScore=1.6988;MQ=59.11;MQ0=0;MQRankSum=0.338;QD=11.93;ReadPosRankSum=-0.129;VQSLOD=5.8174;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,52:110:99:1343,0,1262 4 3006043 3006043 C T exonic GRK4 nonsynonymous SNV GRK4:NM_001004056:exon4:c.C329T:p.A110V,GRK4:NM_005307:exon4:c.C329T:p.A110V,GRK4:NM_001004057:exon5:c.C425T:p.A142V,GRK4:NM_182982:exon5:c.C425T:p.A142V 0.37 0.63 0.38 0.19 0.4 0.17 0.3648 0.5962 0.3622 0.1825 0.5227 0.3805 0.3877 0.1886 0.45 0.6 0.38 0.42 0.42 rs1024323 COSM4415254 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.282 0.162 T 0.001 0.067 B 0.002 0.093 B 0.001 0.420 N 1 0.090 P -1.175 0.009 N 4.65 0.018 T 1.94 0.005 N 0.016 0.023 -1.109 0.032 T 0.000 0.000 T . . . 1.402 0.232 12.80 0.948 0.249 0.000 0.003 N c -1.221 -1.119 0.027 0.138 0.554 0.283 0 2.11 0.262 0.544 0.228 0.090 0.195 0.095 0.225 0.229 0.223 7.587 0.270 RGS domain ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000251075.1|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000251075.1|ENSG00000109736.10|ENSG00000087269.11|ENSG00000125388.15|ENSG00000249673.2|ENSG00000125388.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Ovary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3641 0.5988 0.3565 0.3734 0.1798 0.5244 0.3770 0.3724 0.1912 0.4572 0.5970 0.3597 0.3278 0.1726 0.5109 0.4052 0.4133 het 1678.30 140 4 3006043 . C T 1678.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.115;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9920;MQ=59.00;MQ0=0;MQRankSum=1.036;QD=11.99;ReadPosRankSum=-1.539;VQSLOD=6.0921;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,65:140:99:1708,0,2062 4 3015553 3015553 G A exonic GRK4 nonsynonymous SNV GRK4:NM_001350173:exon6:c.G157A:p.V53I,GRK4:NM_001004056:exon7:c.G643A:p.V215I,GRK4:NM_005307:exon7:c.G643A:p.V215I,GRK4:NM_001004057:exon8:c.G739A:p.V247I,GRK4:NM_182982:exon8:c.G739A:p.V247I 0.043 0.0053 0.058 0.001 0.15 0.014 0.1005 0.0222 0.0433 0.0003 0.2780 0.1353 0.1264 0.0277 0.097 0.029 0.13 0.043 0.15 rs1140085 COSM447778 1(large_intestine) . . . . . . . . . . . 0.605 0.068 T 0.918 0.488 P 0.448 0.467 P 0.000 0.629 U 0.000 0.588 P 0.035 0.081 N 2.27 0.174 T -0.88 0.242 N 0.225 0.308 -0.903 0.477 T 0.000 0.000 T . . . 3.445 0.472 23.0 0.987 0.440 0.945 0.611 D c -0.055 0.055 1.000 0.747 0.516 0.203 0 4.76 0.600 7.867 0.854 0.952 0.539 1.000 0.715 0.793 0.334 16.826 0.857 Protein kinase domain|Protein kinase\x2c ATP binding site|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain;Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.1037 0.0216 0.0419 0.0677 0.0002 0.2737 0.1371 0.1077 0.0274 0.1209 0.0230 0.0538 0.0563 0.0006 0.2605 0.1614 0.1530 het 1420.50 112 4 3015553 . G A 1420.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.354;DP=112;Dels=0.00;FS=7.348;HRun=0;HaplotypeScore=3.9919;MQ=58.54;MQ0=0;MQRankSum=0.127;QD=12.68;ReadPosRankSum=0.923;VQSLOD=4.5937;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1450,0,1322 4 3213832 3213832 G A exonic HTT synonymous SNV HTT:NM_002111:exon48:c.G6591A:p.E2197E 0.24 0.095 0.29 0.35 0.32 0.2 0.2900 0.1418 0.3085 0.3917 0.4373 0.3058 0.3043 0.1885 0.25 0.15 0.3 0.24 0.28 rs362336 COSM3760579 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2952 0.1380 0.2942 0.3002 0.3909 0.4361 0.3022 0.2922 0.1926 0.2882 0.1485 0.2859 0.2848 0.4074 0.4253 0.3230 0.3177 hom 1721.19 59 4 3213832 . G A 1721.19 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.17;VQSLOD=13.6079;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1754,147,0 4 3215835 3215835 T C exonic HTT nonsynonymous SNV HTT:NM_002111:exon50:c.T6925C:p.Y2309H 0.44 0.59 0.43 0.39 0.43 0.32 0.4386 0.5870 0.3936 0.4345 0.5515 0.4378 0.4557 0.3317 0.47 0.56 0.42 0.45 0.45 rs362331 COSM447793 1(liver) . . . . . . . . . . . 0.688 0.043 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.999 0.214 P -1.465 0.005 N 3.59 0.046 T 1.7 0.006 N 0.215 0.333 -1.024 0.223 T 0.000 0.000 T . . . 1.841 0.282 15.23 0.952 0.257 0.382 0.257 N c -0.606 -0.300 0.994 0.334 0.707 0.730 0 5.7 0.886 3.219 0.507 0.069 0.176 1.000 0.715 0.995 0.604 8.214 0.305 . ENSG00000251075.1|ENSG00000251075.1|ENSG00000188981.6 Nerve_Tibial|Thyroid|Thyroid 0.4294 0.5821 0.3787 0.4953 0.4291 0.5446 0.4236 0.4318 0.3143 0.4909 0.5863 0.3825 0.48 0.4434 0.5363 0.4384 0.4572 hom 1976.70 58 4 3215835 . T C 1976.70 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=34.08;VQSLOD=10.2222;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:2010,159,0 4 3219613 3219613 A C exonic HTT synonymous SNV HTT:NM_002111:exon52:c.A7176C:p.L2392L 0.98 0.95 0.99 1. 1. 1. 0.9956 0.9511 0.9968 1 1 0.9997 0.9967 1 0.99 0.96 1. 0.98 1. rs2857790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9525 0.9972 1 1 1 0.9998 0.9976 0.9999 0.9865 0.9531 0.9964 1 1 1 0.9997 0.9969 hom 4433.70 124 4 3219613 . A C 4433.70 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7936;MQ=58.38;MQ0=0;QD=35.76;VQSLOD=8.1915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:4433,364,0 4 3227419 3227419 A G exonic HTT synonymous SNV HTT:NM_002111:exon57:c.A7797G:p.L2599L 0.25 0.12 0.3 0.34 0.32 0.2 0.2939 0.1578 0.3117 0.3779 0.4586 0.3085 0.3114 0.1919 0.25 0.16 0.3 0.2 0.27 rs362273 COSM1429434 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2985 0.1517 0.2982 0.3039 0.3752 0.4576 0.3032 0.2980 0.1951 0.2962 0.1639 0.2895 0.2881 0.4007 0.4429 0.3258 0.3337 hom 1261.56 38 4 3227419 . A G 1261.56 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=33.20;VQSLOD=9.5080;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1295,99,0 4 3234980 3234980 G A exonic HTT nonsynonymous SNV HTT:NM_002111:exon61:c.G8356A:p.V2786I 0.21 0.011 0.29 0.32 0.31 0.21 0.2805 0.0571 0.3047 0.3599 0.4387 0.3040 0.2928 0.1952 0.22 0.067 0.3 0.17 0.26 rs362272 COSM447795 2(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.627 0.052 T 0.002 0.090 B 0.002 0.063 B 0.763 0.096 N 1 0.090 P -0.165 0.043 N -0.16 0.654 T 0.07 0.061 N 0.171 0.207 -1.009 0.272 T 0.000 0.000 T . . . 0.176 0.111 4.423 0.750 0.105 0.283 0.233 N c -1.309 -1.250 0.998 0.370 0.707 0.730 0 -4.25 0.035 1.423 0.342 -1.416 0.012 0.671 0.281 0.003 0.074 12.996 0.579 Armadillo-like helical|Armadillo-type fold ENSG00000251075.1|ENSG00000188981.6 Thyroid|Thyroid 0.2870 0.0529 0.2907 0.2874 0.3597 0.4373 0.3014 0.2804 0.1986 0.2598 0.0575 0.2745 0.2781 0.3820 0.4249 0.3214 0.3111 hom 8224.70 250 4 3234980 . G A 8224.70 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4988;MQ=59.83;MQ0=0;QD=32.90;VQSLOD=7.4036;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8224,662,0 4 3417821 3417821 A G exonic RGS12 synonymous SNV RGS12:NM_198227:exon5:c.A456G:p.P152P,RGS12:NM_002926:exon7:c.A2400G:p.P800P,RGS12:NM_198229:exon7:c.A2400G:p.P800P 0.0006 . 0.0043 . . . 0.0010 0.0006 0.0003 0 0.0003 0.0017 0 0 0.0014 0.0005 0.0019 . . rs146573735 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0007 0.0003 0.0001 0 4.487e-05 0.0018 0.0007 0 0.0009 0 0 0.0033 0 0.0003 0.0017 0.0010 het 275.87 44 4 3417821 . A G 275.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.046;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7487;MQ=59.48;MQ0=0;MQRankSum=-1.128;QD=6.27;ReadPosRankSum=0.459;VQSLOD=2.2827;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,12:44:99:306,0,894 4 3417845 3417845 G C exonic RGS12 synonymous SNV RGS12:NM_198227:exon5:c.G480C:p.L160L,RGS12:NM_002926:exon7:c.G2424C:p.L808L,RGS12:NM_198229:exon7:c.G2424C:p.L808L 0.38 0.44 0.43 0.49 0.27 0.24 0.3164 0.3991 0.4120 0.4965 0.3357 0.2812 0.2962 0.2374 0.31 0.37 0.28 0.36 0.32 rs3213507 COSM4159031;COSM4159030;COSM4159029;COSM4159032 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3170 0.3956 0.3986 0.2861 0.4929 0.3299 0.2779 0.3072 0.2346 0.3339 0.3878 0.3792 0.2682 0.5106 0.3360 0.2829 0.3190 het 174.35 34 4 3417845 . G C 174.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.850;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=1.152;QD=5.13;ReadPosRankSum=-1.112;VQSLOD=4.4906;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,10:34:99:204,0,720 4 3475252 3475252 T C exonic DOK7 synonymous SNV DOK7:NM_001164673:exon3:c.T220C:p.L74L,DOK7:NM_001301071:exon3:c.T220C:p.L74L,DOK7:NM_173660:exon3:c.T220C:p.L74L 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1 1 1 . . . 1. 0.98 rs4325970 COSM4595218;COSM4595219 1(upper_aerodigestive_tract) Benign not_specified RCV000177424.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2082.85 68 4 3475252 . T C 2082.85 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;QD=30.63;VQSLOD=8.1147;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2116,169,0 4 3495095 3495095 G A exonic DOK7 nonsynonymous SNV DOK7:NM_001256896:exon4:c.G452A:p.G151D,DOK7:NM_001301071:exon7:c.G1382A:p.G461D,DOK7:NM_173660:exon7:c.G1382A:p.G461D 0.2 0.13 0.25 0.13 0.19 0.32 0.2520 0.1854 0.2611 0.1632 0.2184 0.2416 0.2718 0.3411 0.16 0.12 0.18 0.14 0.082 rs9684786 COSM3760593;COSM3760592 3(large_intestine) Benign not_specified RCV000116891.4 MedGen CN169374 . . . . . . 0.043 0.413 D 0.192 0.406 B 0.066 0.442 B 0.003 0.349 N 1 0.237 P 1.95 0.526 M -0.05 0.634 T -2.61 0.561 D 0.23 0.289 -1.101 0.040 T 0.000 0.000 T . . . 1.283 0.219 12.18 0.995 0.678 0.564 0.299 D c -0.379 -0.446 1.000 0.747 0.598 0.340 0 2.59 0.300 4.101 0.573 1.045 0.669 0.998 0.411 0.131 0.199 11.252 0.481 . ENSG00000163956.6|ENSG00000163956.6|ENSG00000163956.6|ENSG00000261643.1|ENSG00000163956.6|ENSG00000163956.6|ENSG00000261643.1|ENSG00000163956.6|ENSG00000163956.6|ENSG00000261643.1|ENSG00000261643.1 Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.2071 0.1442 0.2107 0.1770 0.1364 0.1562 0.2056 0.1894 0.3166 0.1753 0.1429 0.2189 0.1733 0.1520 0.1470 0.2014 0.1687 het 255.32 17 4 3495095 . G A 255.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.708;DP=17;Dels=0.00;FS=2.062;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=0.244;QD=15.02;ReadPosRankSum=-1.025;VQSLOD=5.6696;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,10:17:99:285,0,178 4 3769500 3769500 C T exonic ADRA2C synonymous SNV ADRA2C:NM_000683:exon1:c.C1167T:p.G389G 0.19 0.43 0.088 0.14 0.051 0.13 0.0931 0.3928 0.0497 0.1168 0.0137 0.0504 0.1066 0.1331 0.16 0.37 0.055 0.23 . rs7434630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0830 0.3864 0.0482 0.0742 0.1156 0.0117 0.0489 0.0771 0.1316 0.1384 0.3749 0.0526 0.0811 0.1168 0.0121 0.0446 0.0542 het 359.73 28 4 3769500 . C T 359.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.060;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6978;MQ=60.00;MQ0=0;MQRankSum=-0.092;QD=12.85;ReadPosRankSum=1.474;VQSLOD=5.1451;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,15:28:99:390,0,363 4 4199634 4199634 A T exonic OTOP1 nonsynonymous SNV OTOP1:NM_177998:exon5:c.T927A:p.D309E 0.66 0.59 0.56 0.66 0.67 0.83 0.6836 0.6016 0.4748 0.6525 0.6744 0.7021 0.6476 0.8285 0.67 0.6 0.71 0.38 0.7 rs2916414 . . . . . . . . . . . . . 1.0 0.010 T 0.108 0.245 B 0.076 0.269 B 0.040 0.241 N 1.000 0.090 P -0.145 0.044 N 2.05 0.207 T 0.85 0.017 N 0.068 0.055 -1.005 0.285 T 0.000 0.000 T . . . -2.629 0.003 0.001 0.263 0.013 0.043 0.097 N c -1.732 -1.777 0.074 0.157 0.497 0.185 0 -5.33 0.025 -2.054 0.015 -2.669 0.002 0.000 0.063 0.000 0.016 4.277 0.102 . . . 0.6734 0.6008 0.4857 0.6334 0.6512 0.6616 0.7076 0.6510 0.8280 0.6637 0.6070 0.5358 0.6126 0.6675 0.6433 0.7079 0.6833 hom 6729.26 206 4 4199634 . A T 6729.26 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4779;MQ=59.37;MQ0=0;QD=32.67;VQSLOD=8.5776;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:6729,524,0 4 4199760 4199760 G A exonic OTOP1 synonymous SNV OTOP1:NM_177998:exon5:c.C801T:p.I267I 0.086 0.02 0.1 0.022 0.19 0.12 0.1662 0.0534 0.0737 0.0162 0.2046 0.2265 0.1689 0.1214 0.17 0.062 0.23 0.065 0.19 rs17697262 COSM3760635 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1634 0.0507 0.0813 0.2008 0.0154 0.1986 0.2270 0.1776 0.1218 0.1559 0.0479 0.0919 0.1967 0.0228 0.1918 0.2262 0.1769 het 2321.99 149 4 4199760 . G A 2321.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.752;DP=149;Dels=0.00;FS=4.210;HRun=1;HaplotypeScore=0.9916;MQ=59.31;MQ0=0;MQRankSum=1.331;QD=15.58;ReadPosRankSum=-0.748;VQSLOD=6.0116;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,80:149:99:2352,0,1873 4 4204299 4204299 T C exonic OTOP1 synonymous SNV OTOP1:NM_177998:exon4:c.A606G:p.G202G 0.82 0.96 0.75 0.71 0.72 0.88 0.7838 0.9439 0.7204 0.6859 0.7322 0.7629 0.7329 0.8865 0.83 0.94 0.77 0.86 0.76 rs2920182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7737 0.9441 0.7238 0.7442 0.6881 0.7139 0.7637 0.7438 0.8856 0.8063 0.9411 0.7536 0.7331 0.7052 0.6955 0.7717 0.7643 hom 5434.43 177 4 4204299 . T C 5434.43 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.9874;MQ=51.16;MQ0=1;QD=30.70;VQSLOD=3.2866;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5434,424,0 4 4276132 4276132 T C exonic LYAR nonsynonymous SNV LYAR:NM_001145725:exon7:c.A794G:p.H265R,LYAR:NM_017816:exon7:c.A794G:p.H265R 1. 1. 1. 1. 1. 1. 0.9998 0.9986 0.9999 0.9997 1 1.0000 1 1 1. 1. 1. 1. 0.98 rs7376390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9986 0.9999 1 1 1 1.0000 1 1 0.9996 0.9987 1 1 1 1 0.9999 1 hom 8132.31 249 4 4276132 . T C 8132.31 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4912;MQ=59.29;MQ0=0;QD=32.66;VQSLOD=5.6493;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8131,692,0 4 4304337 4304337 C T exonic ZBTB49 synonymous SNV ZBTB49:NM_001330625:exon3:c.C774T:p.A258A,ZBTB49:NM_145291:exon3:c.C774T:p.A258A 0.8 0.76 0.88 0.76 0.85 0.79 0.8263 0.7763 0.8756 0.7703 0.8886 0.8362 0.8289 0.7871 0.82 0.79 0.83 0.76 0.79 rs2916382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8323 0.7760 0.8777 0.8301 0.7656 0.8955 0.8366 0.8265 0.7890 0.8333 0.7811 0.8837 0.8146 0.7627 0.8952 0.8519 0.8714 hom 5698.81 182 4 4304337 . C T 5698.81 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.713;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9181;MQ=58.51;MQ0=0;MQRankSum=-0.933;QD=31.31;ReadPosRankSum=0.857;VQSLOD=7.0429;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,181:182:99:5698,430,0 4 4304522 4304522 A C exonic ZBTB49 nonsynonymous SNV ZBTB49:NM_001330625:exon3:c.A959C:p.Y320S,ZBTB49:NM_145291:exon3:c.A959C:p.Y320S 0.2 0.1 0.29 0.25 0.27 0.16 0.2635 0.1566 0.3134 0.2429 0.3197 0.2918 0.2456 0.1707 0.25 0.17 0.29 0.13 0.34 rs2920217 COSM4003086 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.931 0.075 N 1 0.090 P -2.455 0.001 N 3.06 0.087 T 0.45 0.032 N 0.007 0.287 -0.932 0.439 T 0.000 0.000 T . . . -1.702 0.013 0.002 0.461 0.036 0.007 0.029 N c -1.648 -1.574 0.981 0.302 0.563 0.310 0 -2.97 0.052 0.581 0.233 -0.442 0.057 0.039 0.207 0.039 0.156 4.785 0.125 . ENSG00000145220.9|ENSG00000145220.9|ENSG00000168826.11|ENSG00000145220.9|ENSG00000145220.9 Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Spleen 0.2675 0.1505 0.3291 0.1849 0.2378 0.3033 0.2982 0.2558 0.1666 0.2572 0.1539 0.3445 0.1967 0.2256 0.3076 0.3035 0.2862 hom 3020.74 89 4 4304522 . A C 3020.74 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.58;MQ0=0;QD=33.94;VQSLOD=9.5777;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:3054,238,0 4 5570221 5570221 G A exonic EVC2 synonymous SNV EVC2:NM_001166136:exon20:c.C3267T:p.H1089H,EVC2:NM_147127:exon20:c.C3507T:p.H1169H 0.44 0.16 0.37 0.88 0.31 0.56 0.4847 0.2367 0.5547 0.8718 0.4882 0.4184 0.4513 0.5566 0.26 0.17 0.3 0.32 0.2 rs12511039 COSM330193;COSM3760662 1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) Benign|Benign not_specified|Ellis-van_Creveld_Syndrome RCV000176126.3|RCV000328377.1 MedGen|MedGen CN169374|CN239258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3906 0.1725 0.4211 0.3036 0.8633 0.3281 0.3113 0.3601 0.5282 0.3037 0.1803 0.3945 0.3113 0.8594 0.3274 0.3021 0.3405 het 268.94 16 4 5570221 . G A 268.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.115;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;MQRankSum=0.163;QD=16.81;ReadPosRankSum=-0.922;VQSLOD=7.2264;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,10:16:99:299,0,150 4 5624670 5624670 T C exonic EVC2 nonsynonymous SNV EVC2:NM_001166136:exon14:c.A1855G:p.T619A,EVC2:NM_147127:exon14:c.A2095G:p.T699A 0.52 0.88 0.4 0.62 0.26 0.28 0.3706 0.7944 0.4275 0.6301 0.3375 0.2851 0.3370 0.2887 0.45 0.77 0.28 0.53 0.25 rs730469 COSM3721683;COSM3721684 1(haematopoietic_and_lymphoid_tissue);3(pancreas);1(upper_aerodigestive_tract) Benign|Benign not_specified|Ellis-van_Creveld_Syndrome RCV000250571.2|RCV000349643.1 MedGen|MedGen CN169374|CN239258 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.530 0.116 N 1 0.090 P -1.06 0.011 N -0.79 0.737 T 0.07 0.061 N 0.005 0.040 -0.961 0.391 T 0.000 0.000 T . . . -2.664 0.002 0.001 0.153 0.004 0.019 0.057 N c -1.409 -1.351 0.434 0.204 0.706 0.609 0 0.373 0.153 1.541 0.355 -0.351 0.070 0.282 0.249 0.000 0.016 1.458 0.022 . . . 0.3639 0.8015 0.4247 0.2610 0.6319 0.3409 0.2806 0.3303 0.2881 0.4506 0.7865 0.3902 0.2517 0.6264 0.3371 0.2778 0.3344 het 1941.51 155 4 5624670 . T C 1941.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.396;DP=155;Dels=0.00;FS=2.354;HRun=0;HaplotypeScore=4.7722;MQ=58.82;MQ0=0;MQRankSum=0.468;QD=12.53;ReadPosRankSum=0.541;VQSLOD=5.6903;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,74:155:99:1971,0,2135 4 5743509 5743509 C T exonic EVC synonymous SNV EVC:NM_001306090:exon6:c.C769T:p.L257L,EVC:NM_001306092:exon6:c.C769T:p.L257L,EVC:NM_153717:exon6:c.C769T:p.L257L 0.97 1. 0.98 1. 0.94 0.9 0.9456 0.9913 0.9828 0.9994 0.9525 0.9343 0.9403 0.9063 0.95 0.99 0.94 0.97 0.8 rs6446393 . . Benign|Benign|Benign not_specified|Curry-Hall_syndrome|Ellis-van_Creveld_Syndrome RCV000179557.3|RCV000284741.1|RCV000337462.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen CN169374|C0457013:193530:277807007|CN239258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9477 0.9908 0.9825 0.9340 0.9993 0.9541 0.9344 0.9466 0.9067 0.9533 0.9901 0.9808 0.96 0.9994 0.9553 0.9260 0.9346 hom 1916.81 67 4 5743509 . C T 1916.81 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.94;MQ0=1;QD=28.19;VQSLOD=8.2117;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1950,147,0 4 5743512 5743512 T C exonic EVC nonsynonymous SNV EVC:NM_001306090:exon6:c.T772C:p.Y258H,EVC:NM_001306092:exon6:c.T772C:p.Y258H,EVC:NM_153717:exon6:c.T772C:p.Y258H 0.74 0.5 0.78 0.9 0.79 0.83 0.7951 0.5351 0.8108 0.9116 0.8584 0.8027 0.7967 0.8264 0.71 0.52 0.8 0.74 0.72 rs6414624 . . Benign|Benign|Benign not_specified|Ellis-van_Creveld_Syndrome|Curry-Hall_syndrome RCV000179558.3|RCV000297646.1|RCV000400923.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239258|C0457013:193530:277807007 . . . . . . 0.432 0.095 T 0.009 0.139 B 0.016 0.166 B 0.403 0.131 N 1 0.090 P 1.185 0.302 L 0.51 0.555 T -1.14 0.408 N 0.116 0.127 -1.006 0.283 T 0.000 0.000 T . . . 0.693 0.160 8.779 0.949 0.252 0.499 0.283 N c -0.476 -0.407 0.997 0.354 0.706 0.609 0 2.72 0.310 2.221 0.423 1.042 0.661 0.970 0.340 0.996 0.625 8.084 0.297 . . . 0.7967 0.5258 0.8052 0.7223 0.9062 0.8598 0.8009 0.7906 0.8246 0.7357 0.5398 0.7933 0.76 0.9167 0.8599 0.7926 0.8101 hom 1938.10 66 4 5743512 . T C 1938.10 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=29.37;VQSLOD=9.0199;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1971,147,0 4 5750003 5750003 A G exonic EVC synonymous SNV EVC:NM_001306090:exon8:c.A1068G:p.L356L,EVC:NM_001306092:exon8:c.A1068G:p.L356L,EVC:NM_153717:exon8:c.A1068G:p.L356L 0.22 0.063 0.34 0.2 0.36 0.2 0.2925 0.1031 0.3189 0.1814 0.2970 0.3556 0.3179 0.1931 0.27 0.11 0.36 0.27 0.42 rs33929747 . . Benign|Benign|Benign not_specified|Ellis-van_Creveld_Syndrome|Curry-Hall_syndrome RCV000252072.2|RCV000310572.1|RCV000365218.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239258|C0457013:193530:277807007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2974 0.1005 0.3296 0.4041 0.1857 0.2992 0.3493 0.3415 0.1909 0.2638 0.1052 0.3237 0.4139 0.1867 0.3007 0.3460 0.3204 hom 1495.05 45 4 5750003 . A G 1495.05 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=33.22;VQSLOD=9.2706;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1528,123,0 4 5755542 5755542 C A exonic EVC nonsynonymous SNV EVC:NM_001306090:exon10:c.C1346A:p.T449K,EVC:NM_001306092:exon10:c.C1346A:p.T449K,EVC:NM_153717:exon10:c.C1346A:p.T449K 0.84 0.99 0.73 0.83 0.79 0.8 0.7965 0.9587 0.6996 0.8089 0.7674 0.7922 0.8079 0.7842 0.85 0.95 0.8 0.84 0.77 rs2302075 . . Benign|Benign|Benign not_specified|Ellis-van_Creveld_Syndrome|Curry-Hall_syndrome RCV000153204.5|RCV000360127.1|RCV000390155.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239258|C0457013:193530:277807007 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.555 0.114 N 1 0.090 P -1.845 0.003 N 0.81 0.485 T 1.94 0.006 N 0.047 0.028 -0.970 0.371 T 0.000 0.000 T . . . 0.312 0.124 5.813 0.809 0.129 0.002 0.012 N c -1.588 -1.468 1.000 0.747 0.742 0.980 0 -0.274 0.122 0.433 0.210 0.242 0.267 0.055 0.214 0.084 0.183 1.066 0.015 . ENSG00000072840.8|ENSG00000072832.10 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.7901 0.9622 0.7137 0.8284 0.8102 0.7663 0.7911 0.7811 0.7796 0.8332 0.9539 0.7387 0.8642 0.8257 0.7748 0.7849 0.7867 hom 6436.02 203 4 5755542 . C A 6436.02 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.712;DP=203;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4710;MQ=59.04;MQ0=0;MQRankSum=2.256;QD=31.70;ReadPosRankSum=1.071;VQSLOD=8.0073;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,201:203:99:6391,452,0 4 5785442 5785442 G A exonic EVC nonsynonymous SNV EVC:NM_001306090:exon12:c.G1727A:p.R576Q,EVC:NM_153717:exon12:c.G1727A:p.R576Q 0.3 0.18 0.47 0.33 0.4 0.22 0.3472 0.2071 0.4928 0.3176 0.3372 0.3769 0.3424 0.2321 0.31 0.2 0.36 0.28 0.39 rs1383180 COSM3760684 1(large_intestine) Benign|Benign|Benign not_specified|Ellis-van_Creveld_Syndrome|Curry-Hall_syndrome RCV000254232.2|RCV000315414.1|RCV000369969.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239258|C0457013:193530:277807007 . . . . . . 0.124 0.274 T 1.0 0.899 D 0.995 0.818 D 0.025 0.261 N 0.084 0.365 P 2.455 0.715 M 0.47 0.561 T -2.12 0.481 N 0.103 0.107 -0.928 0.445 T 0.000 0.000 T . . . 4.861 0.653 24.9 0.999 0.998 0.873 0.466 D c 0.421 0.331 0.990 0.319 0.615 0.372 0 4.1 0.470 3.162 0.502 1.048 0.713 0.995 0.385 0.921 0.396 8.837 0.341 . . . 0.3486 0.1946 0.4942 0.3813 0.3080 0.3366 0.3658 0.3666 0.2225 0.3227 0.2047 0.4535 0.3967 0.3218 0.3479 0.3742 0.3609 het 968.74 68 4 5785442 . G A 968.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.232;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7059;MQ=59.32;MQ0=0;MQRankSum=-0.572;QD=14.25;ReadPosRankSum=-1.125;VQSLOD=6.1606;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,31:68:99:999,0,1095 4 5838513 5838513 C G exonic CRMP1 synonymous SNV CRMP1:NM_001014809:exon10:c.G1431C:p.T477T,CRMP1:NM_001288661:exon10:c.G1083C:p.T361T,CRMP1:NM_001288662:exon10:c.G1071C:p.T357T,CRMP1:NM_001313:exon10:c.G1089C:p.T363T 0.59 0.92 0.4 0.6 0.41 0.45 0.4794 0.8601 0.3636 0.5467 0.4353 0.4405 0.4086 0.4645 0.58 0.84 0.45 0.62 0.48 rs12331 COSM447986 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4655 0.8671 0.3681 0.4037 0.5408 0.4364 0.4414 0.4161 0.4672 0.5695 0.8570 0.3759 0.3841 0.5340 0.4376 0.4580 0.4674 hom 5814.28 190 4 5838513 . C G 5814.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.714;DP=190;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4102;MQ=59.04;MQ0=0;MQRankSum=1.585;QD=30.60;ReadPosRankSum=0.852;VQSLOD=7.7938;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,188:190:99:5813,478,0 4 5841350 5841350 A G exonic CRMP1 synonymous SNV CRMP1:NM_001014809:exon9:c.T1209C:p.H403H,CRMP1:NM_001288661:exon9:c.T861C:p.H287H,CRMP1:NM_001288662:exon9:c.T849C:p.H283H,CRMP1:NM_001313:exon9:c.T867C:p.H289H 0.3 0.45 0.16 0.48 0.12 0.19 0.2003 0.4387 0.1630 0.4366 0.1407 0.1409 0.1744 0.2056 0.23 0.41 0.13 0.3 0.074 rs16837723 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1776 0.4242 0.1546 0.1540 0.4235 0.1086 0.1275 0.1464 0.1890 0.2256 0.4164 0.1527 0.1656 0.4011 0.1122 0.1310 0.1724 het 472.06 37 4 5841350 . A G 472.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.079;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3670;MQ=54.36;MQ0=0;MQRankSum=0.106;QD=12.76;ReadPosRankSum=1.535;VQSLOD=3.9772;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,19:37:99:502,0,473 4 6293696 6293696 C G exonic WFS1 synonymous SNV WFS1:NM_001145853:exon6:c.C684G:p.R228R,WFS1:NM_006005:exon6:c.C684G:p.R228R 0.76 0.7 0.74 0.9 0.68 0.77 0.7212 0.6842 0.7895 0.9366 0.6327 0.6791 0.732 0.7732 0.68 0.67 0.68 0.73 0.51 rs1801213 . . other|Benign|Benign not_specified|WFS1-Related_Spectrum_Disorders|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000038665.7|RCV000261705.1|RCV000319343.1 MedGen|MedGen|MedGen CN169374|CN239410|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7158 0.6734 0.7821 0.7876 0.9336 0.6010 0.6683 0.7167 0.7659 0.6800 0.6706 0.7804 0.7815 0.9431 0.6050 0.6670 0.6752 hom 620.33 22 4 6293696 . C G 620.33 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.08;MQ0=0;QD=28.20;VQSLOD=7.1513;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:51.16:653,51,0 4 6302519 6302519 G A exonic WFS1 nonsynonymous SNV WFS1:NM_001145853:exon8:c.G997A:p.V333I,WFS1:NM_006005:exon8:c.G997A:p.V333I 0.88 0.99 0.78 0.99 0.73 0.86 0.7818 0.9555 0.8124 0.9979 0.6704 0.7173 0.7742 0.8433 0.8 0.95 0.72 0.87 0.66 rs1801212 . . Benign|Benign\x2cBenign not_specified|WFS1-Related_Spectrum_Disorders\x2cnot_specified RCV000038668.8|RCV000259675.1\x2cRCV000155337.1 MedGen|MedGen\x2cMedGen CN169374|CN239410\x2cCN169374 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.000 0.843 N 1.000 0.198 P -2.83 0.000 N -1.98 0.853 D 0.36 0.037 N 0.045 0.215 -0.946 0.416 T 0.000 0.000 T . . . 0.236 0.117 5.055 0.562 0.054 0.254 0.225 N c -0.960 -0.671 0.519 0.211 0.706 0.609 0 3.4 0.379 4.065 0.570 0.242 0.267 1.000 0.715 0.999 0.750 8.382 0.315 . ENSG00000109501.9 Skin_Sun_Exposed_Lower_leg 0.7799 0.9562 0.8112 0.8144 0.9981 0.6629 0.7167 0.7714 0.8409 0.7950 0.9534 0.8137 0.8046 1 0.6633 0.7143 0.7312 hom 8010.71 250 4 6302519 . G A 8010.71 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6485;MQ=59.33;MQ0=0;QD=32.04;VQSLOD=9.2653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8010,635,0 4 6302707 6302707 C T exonic WFS1 synonymous SNV WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V 0.64 0.45 0.67 0.9 0.62 0.64 0.6245 0.4646 0.7443 0.9358 0.5720 0.5907 0.6355 0.6352 0.55 0.46 0.6 0.59 0.56 rs1801206 COSM5021444 1(bone) other|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant|WFS1-Related_Spectrum_Disorders RCV000038635.10|RCV000344908.1|RCV000380942.1 MedGen|MedGen|MedGen CN169374|CN239435|CN239410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6336 0.4630 0.7363 0.6768 0.9325 0.5702 0.5877 0.6375 0.6364 0.5740 0.4552 0.7098 0.6913 0.9394 0.5724 0.5924 0.5957 hom 8100.63 250 4 6302707 . C T 8100.63 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8258;MQ=59.32;MQ0=0;QD=32.40;VQSLOD=8.6604;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8099,674,0 4 6303022 6303022 C T exonic WFS1 synonymous SNV WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N 0.73 0.69 0.7 0.91 0.64 0.71 0.6595 0.6736 0.7600 0.9441 0.5735 0.6010 0.6641 0.7013 0.63 0.68 0.61 0.73 0.61 rs1801214 . . other|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant|WFS1-Related_Spectrum_Disorders RCV000038641.10|RCV000294241.1|RCV000330600.1 MedGen|MedGen|MedGen CN169374|CN239435|CN239410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6642 0.6730 0.7529 0.6979 0.9409 0.5739 0.5977 0.6598 0.6992 0.6402 0.6655 0.7380 0.7152 0.9493 0.5722 0.6024 0.6163 hom 5800.83 179 4 6303022 . C T 5800.83 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4715;MQ=59.53;MQ0=0;QD=32.41;VQSLOD=8.6396;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5800,463,0 4 6303354 6303354 G A exonic WFS1 nonsynonymous SNV WFS1:NM_001145853:exon8:c.G1832A:p.R611H,WFS1:NM_006005:exon8:c.G1832A:p.R611H 0.47 0.032 0.55 0.81 0.56 0.56 0.5367 0.1072 0.6665 0.8363 0.4932 0.5397 0.5385 0.5648 0.4 0.12 0.55 0.38 0.52 rs734312 COSM149634 1(stomach);3(prostate) other|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant|WFS1-Related_Spectrum_Disorders RCV000038646.10|RCV000339307.1|RCV000404430.1 MedGen|MedGen|MedGen CN169374|CN239435|CN239410 . . . . . . 0.085 0.327 T 0.146 0.262 B 0.04 0.225 B 0.000 0.629 N 0.001 0.467 P 2.57 0.754 M -3.25 0.935 D -1.82 0.427 N 0.38 0.440 -0.912 0.466 T 0.000 0.000 T . . . 1.189 0.209 11.69 0.978 0.358 0.974 0.741 D c -0.177 -0.105 0.998 0.359 0.707 0.730 0 4.57 0.557 4.924 0.629 0.085 0.192 1.000 0.715 0.952 0.428 13.257 0.593 . ENSG00000109501.9|ENSG00000109501.9|ENSG00000109501.9|ENSG00000109501.9|ENSG00000109501.9|ENSG00000109501.9|ENSG00000109501.9|ENSG00000109501.9 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5516 0.0988 0.658 0.6438 0.8341 0.4882 0.5381 0.5512 0.5680 0.4305 0.1080 0.6235 0.6490 0.8335 0.4897 0.5412 0.5061 hom 8565.21 250 4 6303354 . G A 8565.21 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2792;MQ=59.39;MQ0=0;QD=34.26;VQSLOD=8.0316;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8564,698,0 4 6303955 6303955 G A exonic WFS1 synonymous SNV WFS1:NM_001145853:exon8:c.G2433A:p.K811K,WFS1:NM_006005:exon8:c.G2433A:p.K811K 0.65 0.49 0.68 0.9 0.62 0.64 0.6294 0.5066 0.7468 0.9364 0.5672 0.5918 0.6320 0.6375 0.57 0.51 0.6 0.63 0.57 rs1046314 COSM3760688 1(thyroid);2(large_intestine);1(central_nervous_system) other|Benign|Benign not_specified|WFS1-Related_Spectrum_Disorders|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000038659.10|RCV000292566.1|RCV000352148.1 MedGen|MedGen|MedGen CN169374|CN239410|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6359 0.5015 0.7381 0.6773 0.9322 0.5676 0.5868 0.6380 0.6352 0.5865 0.4997 0.7146 0.6887 0.9395 0.5682 0.5931 0.5957 hom 3006.05 86 4 6303955 . G A 3006.05 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9916;MQ=58.58;MQ0=0;QD=34.95;VQSLOD=9.3396;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:3039,244,0 4 6304087 6304087 A G exonic WFS1 synonymous SNV WFS1:NM_001145853:exon8:c.A2565G:p.S855S,WFS1:NM_006005:exon8:c.A2565G:p.S855S 0.78 0.78 0.75 0.9 0.69 0.77 0.7228 0.7613 0.7931 0.9368 0.6071 0.6767 0.7309 0.7673 0.71 0.76 0.69 0.81 0.61 rs1046316 COSM448013 1(thyroid) other|Benign|Benign\x2cLikely benign not_specified|WFS1-Related_Spectrum_Disorders|Nonsyndromic_Hearing_Loss\x2c_Dominant\x2cnot_specified RCV000038660.10|RCV000272258.1|RCV000329623.1\x2cRCV000442047.1 MedGen|MedGen|MedGen\x2cMedGen CN169374|CN239410|CN239435\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7244 0.7608 0.7894 0.7894 0.9332 0.6020 0.6741 0.7248 0.7670 0.7059 0.7574 0.7852 0.7848 0.9407 0.6042 0.6701 0.6776 hom 3102.65 97 4 6304087 . A G 3102.65 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8490;MQ=58.56;MQ0=0;QD=31.99;VQSLOD=9.1281;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:97:99:3136,265,0 4 6325086 6325086 G A exonic PPP2R2C synonymous SNV PPP2R2C:NM_020416:exon9:c.C1287T:p.I429I,PPP2R2C:NM_181876:exon9:c.C1287T:p.I429I,PPP2R2C:NM_001206994:exon10:c.C1266T:p.I422I,PPP2R2C:NM_001206995:exon10:c.C1266T:p.I422I,PPP2R2C:NM_001206996:exon10:c.C1236T:p.I412I 0.65 0.43 0.66 0.94 0.58 0.74 0.6319 0.4559 0.7476 0.9167 0.5347 0.5892 0.6361 0.7232 0.54 0.46 0.59 0.59 0.56 rs3796403 COSM3760690;COSM3760689 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6402 0.4535 0.7392 0.7352 0.9147 0.5254 0.5858 0.6352 0.7224 0.5581 0.4629 0.7093 0.7583 0.9030 0.5198 0.5724 0.5603 het 1511.72 134 4 6325086 . G A 1511.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.271;DP=134;Dels=0.00;FS=11.038;HRun=1;HaplotypeScore=6.2654;MQ=59.52;MQ0=0;MQRankSum=1.846;QD=11.28;ReadPosRankSum=1.609;VQSLOD=3.5895;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,60:134:99:1542,0,2025 4 6596360 6596360 G A exonic MAN2B2 nonsynonymous SNV MAN2B2:NM_001292038:exon7:c.G805A:p.V269M,MAN2B2:NM_015274:exon7:c.G958A:p.V320M 0.46 0.44 0.48 0.39 0.54 0.45 0.4951 0.4372 0.4809 0.3548 0.5850 0.5195 0.5088 0.4802 0.49 0.44 0.52 0.49 0.55 rs2301795 COSM5618071;COSM4159134 2(breast);1(thyroid) . . . . . . . . . . . 0.176 0.262 T 0.37 0.332 B 0.33 0.403 B 0.014 0.287 N 0.970 0.257 P 1.705 0.444 L -1.04 0.766 T -1.6 0.385 N 0.095 0.385 -0.923 0.451 T 0.000 0.000 T . . . 1.077 0.197 11.09 0.961 0.280 0.724 0.352 D c -0.377 -0.416 0.988 0.313 0.707 0.730 0 2.76 0.314 3.738 0.545 0.943 0.531 1.000 0.715 0.146 0.204 8.097 0.298 Glycoside hydrolase 38/57\x2c N-terminal domain|Glycoside hydrolase family 38\x2c N-terminal domain|Glycoside hydrolase/deacetylase\x2c beta/alpha-barrel . . 0.4988 0.4356 0.4865 0.5033 0.3587 0.5906 0.5183 0.5150 0.4817 0.4864 0.4310 0.4462 0.4901 0.3569 0.5874 0.5104 0.5 hom 2944.87 95 4 6596360 . G A 2944.87 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9140;MQ=58.78;MQ0=0;QD=31.00;VQSLOD=8.7869;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2978,244,0 4 6619165 6619165 A G exonic MAN2B2 synonymous SNV MAN2B2:NM_001292038:exon17:c.A2607G:p.L869L,MAN2B2:NM_015274:exon17:c.A2760G:p.L920L 0.98 0.94 0.99 1. 1. 0.98 0.9924 0.9471 0.9972 1 1 0.9999 0.9934 0.9803 0.98 0.95 1. 0.97 1. rs4689489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9939 0.9492 0.9973 0.9995 0.9999 1 0.9999 0.9973 0.9804 0.9852 0.9491 0.9952 1 1 1 0.9998 0.9918 hom 3566.10 112 4 6619165 . A G 3566.10 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.17;MQ0=0;QD=31.84;VQSLOD=9.8602;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3566,277,0 4 6619204 6619204 G A exonic MAN2B2 synonymous SNV MAN2B2:NM_001292038:exon17:c.G2646A:p.V882V,MAN2B2:NM_015274:exon17:c.G2799A:p.V933V 0.69 0.28 0.84 0.9 0.86 0.73 0.8099 0.3572 0.9082 0.8958 0.8895 0.8652 0.8219 0.7239 0.7 0.37 0.87 0.59 0.84 rs4689490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8224 0.3412 0.9016 0.7681 0.8945 0.8865 0.8722 0.8232 0.7251 0.7281 0.3530 0.8756 0.7848 0.9005 0.8886 0.8736 0.8381 hom 2445.59 76 4 6619204 . G A 2445.59 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=58.16;MQ0=0;QD=32.18;VQSLOD=9.1164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2479,199,0 4 6698667 6698667 T C exonic S100P synonymous SNV S100P:NM_005980:exon2:c.T186C:p.D62D 1. 1. 1. 1. 1. 1. 0.9998 0.9978 0.9997 0.9998 1 1.0000 1 1 1. 1. 1. 1. 0.97 rs11734898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9982 0.9999 1 0.9998 1 0.9999 1 1 0.9995 0.9985 0.9988 1 0.9988 1 0.9999 1 hom 8200.43 250 4 6698667 . T C 8200.43 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8332;MQ=58.40;MQ0=0;QD=32.80;VQSLOD=8.0893;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8161,686,0 4 6698706 6698706 A C exonic S100P synonymous SNV S100P:NM_005980:exon2:c.A225C:p.I75I 0.98 0.95 0.99 1. 1. 1. 0.9957 0.9532 0.9978 1 1 0.9999 0.9978 0.9999 0.98 0.95 1. 0.98 1. rs11733989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9529 0.9975 1 1 0.9998 0.9998 0.9974 0.9998 0.9872 0.9565 0.9952 1 1 0.9994 0.9997 0.9939 hom 7889.63 250 4 6698706 . A C 7889.63 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8640;MQ=58.28;MQ0=0;QD=31.56;VQSLOD=9.2616;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7888,683,0 4 7062895 7062895 G A exonic GRPEL1 synonymous SNV GRPEL1:NM_025196:exon4:c.C348T:p.D116D 0.0014 . 0.0058 . 0.003 . 0.0036 0.0006 0.0004 0 0.0062 0.0056 0.0046 0 0.0028 0.0009 0.0038 . 0.0082 rs141369619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0031 0.0006 0.0002 0.0002 5.802e-05 0.0056 0.0054 0.0031 0 0.0029 0.0005 0 0 0 0.0060 0.0041 0.0020 het 2216.87 201 4 7062895 . G A 2216.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.099;DP=201;Dels=0.00;FS=1.790;HRun=0;HaplotypeScore=8.6499;MQ=58.91;MQ0=0;MQRankSum=0.155;QD=11.03;ReadPosRankSum=0.064;VQSLOD=2.9359;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:109,92:201:99:2247,0,2848 4 7435194 7435194 G A exonic PSAPL1 synonymous SNV PSAPL1:NM_001085382:exon1:c.C1413T:p.G471G 0.12 0.1 0.11 0.11 0.18 0.065 0.2201 0.1606 0.2268 0.1528 0.2517 0.2426 0.2037 0.1374 0.16 0.12 0.17 0.11 . rs12498567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1517 0.1210 0.1569 0.1269 0.1057 0.1706 0.1809 0.1521 0.0660 0.1635 0.1258 0.1599 0.1391 0.1051 0.1794 0.1894 0.1524 hom 756.29 26 4 7435194 . G A 756.29 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.11;MQ0=0;QD=29.09;VQSLOD=7.5961;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:66.19:789,66,0 4 7435379 7435379 A G exonic PSAPL1 synonymous SNV PSAPL1:NM_001085382:exon1:c.T1228C:p.L410L 0.99 0.96 1. 1. 1. 1. 0.9969 0.9675 0.9986 1 1 0.9995 1 1 0.99 0.97 1. 0.98 . rs4689746 COSM4159169;COSM4159168 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9976 0.9693 0.9983 0.9993 1 1 0.9995 0.9985 1 0.9914 0.9706 1 1 1 1 0.9998 0.9949 hom 1217 35 4 7435379 . A G 1217 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=34.77;VQSLOD=9.5196;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:96.31:1250,96,0 4 7714490 7714490 T C exonic SORCS2 synonymous SNV SORCS2:NM_020777:exon15:c.T1899C:p.D633D 0.85 0.79 0.8 1. 0.73 0.92 0.7929 0.7939 0.8694 0.9991 0.7585 0.7267 0.7567 0.9142 0.74 0.81 0.71 0.8 . rs4689833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7924 0.7935 0.8516 0.7424 0.9992 0.7615 0.7218 0.7471 0.9144 0.7610 0.7907 0.8385 0.7133 0.9988 0.7606 0.7149 0.7566 het 2141.96 140 4 7714490 . T C 2141.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.885;DP=140;Dels=0.00;FS=8.015;HRun=0;HaplotypeScore=1.8561;MQ=59.57;MQ0=0;MQRankSum=0.218;QD=15.30;ReadPosRankSum=-0.402;VQSLOD=4.8597;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,77:140:99:2172,0,1558 4 7716910 7716910 C T exonic SORCS2 synonymous SNV SORCS2:NM_020777:exon17:c.C2124T:p.C708C 0.17 0.26 0.089 0.17 0.093 0.17 0.1108 0.2265 0.0695 0.1915 0.0670 0.0873 0.0996 0.1426 0.13 0.22 0.086 0.11 . rs28531835 COSM1431099;COSM4414950;COSM4414949 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1069 0.2311 0.0670 0.1403 0.1924 0.0678 0.0846 0.1075 0.1396 0.1262 0.2284 0.0680 0.1490 0.2031 0.0667 0.0771 0.0988 het 2160.42 196 4 7716910 . C T 2160.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.200;DP=196;Dels=0.00;FS=8.345;HRun=0;HaplotypeScore=3.9740;MQ=58.64;MQ0=0;MQRankSum=2.730;QD=11.02;ReadPosRankSum=0.634;VQSLOD=3.0952;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,88:196:99:2190,0,2812 4 7716932 7716932 T C exonic SORCS2 nonsynonymous SNV SORCS2:NM_020777:exon17:c.T2146C:p.S716P 0.94 0.84 0.96 1. 0.96 0.98 0.9512 0.8579 0.9721 0.9995 0.9640 0.9468 0.9621 0.9790 0.92 0.86 0.94 0.86 . rs6816604 . . . . . . . . . . . . . 0.398 0.109 T 0.0 0.026 B 0.0 0.013 B 0.339 0.140 N 1 0.090 P -1.5 0.005 N 2.45 0.150 T 0.23 0.049 N 0.037 0.022 -1.053 0.136 T 0.000 0.000 T . . . -0.294 0.069 0.686 0.868 0.162 0.010 0.037 N c -1.370 -1.404 0.828 0.246 0.743 0.982 0 -2.11 0.068 0.246 0.178 -0.896 0.027 0.000 0.063 0.208 0.219 0.741 0.009 Sortilin\x2c C-terminal|VPS10 . . 0.9526 0.8578 0.9661 0.9343 0.9997 0.9676 0.9456 0.9507 0.9787 0.9252 0.8606 0.9678 0.9139 0.9988 0.9688 0.9409 0.9481 hom 5693.62 183 4 7716932 . T C 5693.62 Mask AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6399;MQ=58.66;MQ0=0;QD=31.11;VQSLOD=8.2425;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:183:99:5693,436,0 4 7780582 7780582 C T exonic AFAP1 nonsynonymous SNV AFAP1:NM_198595:exon13:c.G1552A:p.V518M,AFAP1:NM_001134647:exon14:c.G1804A:p.V602M 0.11 0.011 0.15 0.061 0.3 0.078 0.2211 0.0506 0.1267 0.0665 0.2687 0.3044 0.2356 0.1179 0.22 0.054 0.3 0.11 0.28 rs41264705 COSM4003147;COSM4003148 1(haematopoietic_and_lymphoid_tissue);1(kidney) . . . . . . . . . . . 0.091 0.318 T 0.832 0.447 P 0.036 0.268 B 0.126 0.028 N 1 0.090 P 1.155 0.297 L 2.48 0.149 T -0.3 0.119 N 0.024 0.007 -0.946 0.417 T 0.000 0.000 T . . . 1.481 0.240 13.21 0.956 0.268 0.083 0.141 N c -0.841 -0.938 1.000 0.473 0.706 0.609 0 -0.23 0.124 -0.464 0.067 -0.320 0.077 0.000 0.063 0.026 0.142 5.890 0.180 . ENSG00000196526.6|ENSG00000196526.6|ENSG00000196526.6|ENSG00000196526.6|ENSG00000272620.1 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood|Whole_Blood 0.2191 0.0448 0.1382 0.2602 0.0638 0.2633 0.3060 0.2374 0.1179 0.2093 0.0513 0.1850 0.2417 0.0586 0.2575 0.3051 0.2434 het 871.43 91 4 7780582 . C T 871.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.768;DP=91;Dels=0.00;FS=0.978;HRun=0;HaplotypeScore=1.8661;MQ=58.13;MQ0=0;MQRankSum=-0.337;QD=9.58;ReadPosRankSum=1.993;VQSLOD=4.5139;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,36:91:99:901,0,1355 4 7802292 7802292 G A exonic AFAP1 synonymous SNV AFAP1:NM_001134647:exon10:c.C1143T:p.T381T,AFAP1:NM_198595:exon10:c.C1143T:p.T381T 0.11 0.011 0.15 0.061 0.3 0.076 0.2217 0.0503 0.1297 0.0666 0.2691 0.3063 0.2362 0.1139 0.22 0.056 0.3 0.11 0.3 rs11728778 COSM4003150;COSM4003149 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2205 0.0447 0.1416 0.2628 0.0642 0.2631 0.3085 0.2413 0.1145 0.2108 0.0522 0.1897 0.2467 0.0576 0.2577 0.3070 0.2434 het 1329.63 111 4 7802292 . G A 1329.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.682;DP=111;Dels=0.00;FS=0.716;HRun=0;HaplotypeScore=2.4602;MQ=58.85;MQ0=0;MQRankSum=-0.021;QD=11.98;ReadPosRankSum=-0.400;VQSLOD=6.5743;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,50:111:99:1360,0,1728 4 7857230 7857230 C T exonic AFAP1 synonymous SNV AFAP1:NM_001134647:exon4:c.G297A:p.P99P,AFAP1:NM_198595:exon4:c.G297A:p.P99P 0.18 0.048 0.25 0.065 0.44 0.15 0.3248 0.0939 0.1904 0.0707 0.4131 0.4421 0.3322 0.1825 0.32 0.1 0.44 0.15 0.56 rs61742221 COSM4416020;COSM4416021 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3227 0.09 0.1987 0.4079 0.0694 0.4145 0.4432 0.3716 0.1772 0.3133 0.0984 0.2339 0.4139 0.0667 0.4164 0.4403 0.3612 het 853.49 75 4 7857230 . C T 853.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.875;DP=75;Dels=0.00;FS=4.715;HRun=0;HaplotypeScore=1.6567;MQ=60.00;MQ0=0;MQRankSum=0.228;QD=11.38;ReadPosRankSum=0.111;VQSLOD=5.7250;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,36:75:99:883,0,1015 4 8031471 8031471 A G exonic ABLIM2 synonymous SNV ABLIM2:NM_001286688:exon7:c.T384C:p.C128C,ABLIM2:NM_001130083:exon11:c.T1080C:p.C360C,ABLIM2:NM_001130084:exon11:c.T1080C:p.C360C,ABLIM2:NM_001130085:exon11:c.T1080C:p.C360C,ABLIM2:NM_001130086:exon11:c.T1080C:p.C360C,ABLIM2:NM_032432:exon11:c.T1080C:p.C360C,ABLIM2:NM_001130087:exon12:c.T1113C:p.C371C,ABLIM2:NM_001130088:exon12:c.T1113C:p.C371C 0.73 0.77 0.73 0.78 0.74 0.62 0.7400 0.8035 0.7502 0.8010 0.8209 0.7464 0.7681 0.6571 0.75 0.8 0.73 0.79 . rs2385904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7249 0.7882 0.7074 0.6702 0.7888 0.7887 0.7304 0.7136 0.6458 0.7557 0.7929 0.7117 0.6788 0.8138 0.7866 0.7256 0.7393 hom 307.97 11 4 8031471 . A G 307.97 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.09;MQ0=0;QD=28.00;VQSLOD=8.1102;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:27.07:341,27,0 4 8228731 8228731 T C exonic SH3TC1 nonsynonymous SNV SH3TC1:NM_001318480:exon12:c.T1082C:p.L361P,SH3TC1:NM_018986:exon12:c.T1310C:p.L437P 0.97 0.89 0.99 1. 1. 1. 0.9906 0.9052 0.9924 0.9999 1 0.9995 0.9965 0.9996 0.97 0.91 1. 0.96 0.98 rs1281145 . . . . . . . . . . . . . 0.804 0.031 T 0.0 0.026 B 0.001 0.040 B 0.979 0.078 N 1 0.090 P -1.475 0.005 N 0.99 0.418 T 2.83 0.002 N 0.023 0.107 -0.982 0.347 T 0.000 0.000 T . . . -0.712 0.044 0.067 0.040 0.000 0.006 0.025 N c -1.763 -1.660 1.000 0.414 0.672 0.522 0 1.04 0.191 -0.614 0.057 -2.581 0.002 0.000 0.063 0.000 0.016 10.054 0.412 . . . 0.9919 0.9046 0.9927 0.9997 0.9999 1 0.9995 0.9950 0.9997 0.9743 0.9113 0.9881 1 1 1 0.9995 0.9959 hom 1508.10 50 4 8228731 . T C 1508.10 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.5784;MQ=59.16;MQ0=0;QD=30.16;VQSLOD=9.3707;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1541,120,0 4 8228894 8228894 T C exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.T1245C:p.D415D,SH3TC1:NM_018986:exon12:c.T1473C:p.D491D 0.97 0.88 0.99 1. 1. 1. 0.9910 0.9032 0.9948 0.9999 1 0.9995 0.9953 0.9999 0.97 0.91 1. 0.91 0.6 rs1292647 COSM4159230 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9927 0.9016 0.9941 1 0.9996 1 0.9995 0.9960 0.9999 0.9729 0.9054 0.9916 1 1 1 0.9997 0.9969 hom 792.83 28 4 8228894 . T C 792.83 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;QD=28.32;VQSLOD=8.6923;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:72.18:826,72,0 4 8228948 8228948 T C exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.T1299C:p.P433P,SH3TC1:NM_018986:exon12:c.T1527C:p.P509P 0.23 0.075 0.27 0.33 0.32 0.21 0.3206 0.1350 0.3602 0.3693 0.3546 0.3500 0.3366 0.2683 0.24 0.12 0.31 0.28 0.049 rs55642964 COSM3760786 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2914 0.1142 0.2859 0.3470 0.3332 0.3264 0.3149 0.2887 0.2390 0.2511 0.1160 0.2673 0.3675 0.3174 0.3292 0.2989 0.2863 het 172.67 18 4 8228948 . T C 172.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.537;DP=18;Dels=0.00;FS=2.197;HRun=4;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.537;QD=9.59;ReadPosRankSum=-0.439;VQSLOD=6.0310;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,7:18:99:203,0,294 4 8229218 8229218 A G exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.A1569G:p.L523L,SH3TC1:NM_018986:exon12:c.A1797G:p.L599L 0.98 0.93 0.99 1. 1. 1. 0.9954 0.9513 0.9963 1 1 0.9997 0.9987 0.9999 0.99 0.96 1. 0.97 0.8 rs1281146 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9959 0.9516 0.9962 1 1 1 0.9996 0.9966 1.0000 0.9877 0.9577 0.9928 1 1 1 0.9998 0.9980 hom 6159.65 192 4 8229218 . A G 6159.65 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1507;MQ=59.30;MQ0=0;QD=32.08;VQSLOD=8.2443;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,191:192:99:6159,466,0 4 8229326 8229326 T C exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.T1677C:p.P559P,SH3TC1:NM_018986:exon12:c.T1905C:p.P635P 0.96 0.87 0.99 1. 1. 1. 0.9904 0.8985 0.9944 1 1 0.9995 0.9960 0.9998 0.97 0.91 1. 0.95 0.54 rs1281147 COSM4159231 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9909 0.8988 0.9940 1 1 0.9999 0.9995 0.9950 0.9999 0.9723 0.9033 0.9905 1 1 1 0.9997 0.9959 hom 2183.02 71 4 8229326 . T C 2183.02 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.75;VQSLOD=13.7954;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2216,205,0 4 8229713 8229713 A G exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.A2064G:p.Q688Q,SH3TC1:NM_018986:exon12:c.A2292G:p.Q764Q 0.52 0.24 0.52 0.51 0.72 0.68 0.6508 0.3153 0.4794 0.4727 0.6594 0.7370 0.6879 0.7152 0.61 0.33 0.76 0.54 0.65 rs1281148 COSM5424714 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6499 0.309 0.4826 0.8035 0.4716 0.6641 0.7406 0.6534 0.7186 0.5849 0.3216 0.4797 0.77 0.4647 0.6685 0.7295 0.6471 hom 1660.48 51 4 8229713 . A G 1660.48 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=32.56;VQSLOD=9.4257;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1693,138,0 4 8229774 8229774 C T exonic SH3TC1 nonsynonymous SNV SH3TC1:NM_001318480:exon12:c.C2125T:p.R709C,SH3TC1:NM_018986:exon12:c.C2353T:p.R785C 0.48 0.13 0.53 0.51 0.73 0.61 0.6396 0.2197 0.4843 0.4729 0.6608 0.7430 0.7115 0.6648 0.59 0.24 0.77 0.41 0.67 rs1281149 COSM4159232 1(thyroid) . . . . . . . . . . . 0.182 0.218 T 0.017 0.163 B 0.008 0.127 B 0.017 0.277 N 1 0.090 P 0.76 0.193 N -0.87 0.746 T -0.52 0.162 N 0.066 0.219 -0.974 0.363 T 0.000 0.000 T . . . 0.961 0.186 10.44 0.473 0.038 0.065 0.124 N c -0.902 -0.926 1.000 0.747 0.722 0.854 0 1.91 0.247 2.020 0.404 0.783 0.315 0.935 0.322 0.013 0.120 2.848 0.052 . . . 0.6396 0.2049 0.4857 0.8132 0.4713 0.6652 0.7473 0.6594 0.6652 0.5596 0.2237 0.4785 0.7881 0.4642 0.6682 0.7346 0.6430 hom 1857.30 59 4 8229774 . C T 1857.30 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;QD=31.48;VQSLOD=8.3841;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1890,162,0 4 8230070 8230070 T C exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.T2421C:p.A807A,SH3TC1:NM_018986:exon12:c.T2649C:p.A883A 0.53 0.3 0.53 0.52 0.72 0.68 0.6551 0.3644 0.4840 0.4748 0.6592 0.7372 0.6927 0.7142 0.63 0.37 0.76 0.6 0.69 rs1281150 COSM4159233 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6538 0.3566 0.4877 0.8078 0.4736 0.6605 0.7413 0.6557 0.7190 0.5975 0.3678 0.4845 0.7781 0.4647 0.6692 0.7283 0.6459 hom 2506.95 90 4 8230070 . T C 2506.95 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.9776;MQ=58.63;MQ0=0;QD=27.86;VQSLOD=3.8254;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2540,226,0 4 8230235 8230235 T C exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.T2586C:p.L862L,SH3TC1:NM_018986:exon12:c.T2814C:p.L938L 0.56 0.37 0.55 0.52 0.73 0.67 0.6675 0.4263 0.4974 0.4799 0.6646 0.7469 0.7205 0.7068 0.66 0.44 0.77 0.42 0.55 rs1281151 COSM448222 1(urinary_tract);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6620 0.4150 0.5 0.8324 0.4765 0.6647 0.7494 0.6736 0.7093 0.6210 0.4313 0.4940 0.7967 0.4659 0.6692 0.7385 0.6527 hom 1079.36 37 4 8230235 . T C 1079.36 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=59.75;MQ0=0;QD=29.17;VQSLOD=8.4690;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:96.25:1112,96,0 4 8242466 8242466 A G exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon18:c.A3567G:p.A1189A,SH3TC1:NM_018986:exon18:c.A3795G:p.A1265A 0.98 0.94 0.99 1. 1. 1. 0.9958 0.9566 0.9971 1 1 0.9996 0.9989 0.9996 0.99 0.96 1. 0.92 0.95 rs1281103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9967 0.9575 0.9969 1 1 1 0.9996 0.9974 0.9998 0.9891 0.9623 0.9952 1 1 1 0.9999 0.9980 hom 4424.04 140 4 8242466 . A G 4424.04 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4167;MQ=59.70;MQ0=0;QD=31.60;VQSLOD=8.6416;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4423,364,0 4 8242499 8242499 G A exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon18:c.G3600A:p.Q1200Q,SH3TC1:NM_018986:exon18:c.G3828A:p.Q1276Q 0.023 0.0008 0.022 . 0.038 0.064 0.0390 0.0094 0.0127 0.0003 0.0423 0.0456 0.0365 0.0687 0.038 0.012 0.051 0.011 0.049 rs1048506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0386 0.0084 0.0121 0.0286 0.0002 0.0410 0.0490 0.0370 0.0680 0.0347 0.0111 0.0228 0.0312 0.0006 0.0463 0.0492 0.0470 het 1388.59 126 4 8242499 . G A 1388.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.528;DP=126;Dels=0.00;FS=3.359;HRun=1;HaplotypeScore=0.8941;MQ=59.45;MQ0=0;MQRankSum=1.553;QD=11.02;ReadPosRankSum=-1.488;VQSLOD=5.6876;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,54:126:99:1419,0,1970 4 8582856 8582856 T G exonic GPR78 synonymous SNV GPR78:NM_080819:exon1:c.T147G:p.S49S 0.15 0.033 0.21 0.024 0.33 0.22 0.2645 0.0812 0.1410 0.0176 0.2493 0.3440 0.2714 0.2739 0.26 0.081 0.34 0.087 0.33 rs17844777 COSM3721970 2(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2555 0.0710 0.1483 0.3402 0.0164 0.2184 0.3450 0.2728 0.2667 0.2170 0.0788 0.1718 0.3311 0.0203 0.2175 0.3167 0.2495 het 531.31 44 4 8582856 . T G 531.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.279;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6439;MQ=60.00;MQ0=0;MQRankSum=-0.329;QD=12.08;ReadPosRankSum=0.987;VQSLOD=6.2253;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,23:44:99:561,0,554 4 8583046 8583046 C T exonic GPR78 nonsynonymous SNV GPR78:NM_080819:exon1:c.C337T:p.R113C . . . . . . 3.094e-05 0 0 0 0 5.604e-05 0 0 0.0001 . 0.0001 . . rs376622641 . . . . . . . . . . . . . 0.021 0.491 D 0.999 0.764 D 0.953 0.676 D 0.000 0.629 U 0.923 0.367 D 1.15 0.294 L 0.95 0.433 T -3.48 0.679 D 0.206 0.265 -0.932 0.438 T 0.125 0.431 T 0.015 0.355 T 5.226 0.706 25.6 0.991 0.521 0.013 0.046 N c -0.261 -0.492 0.995 0.341 0.437 0.062 0 -0.758 0.104 2.774 0.471 -0.292 0.083 1.000 0.715 0.006 0.095 4.464 0.110 GPCR\x2c rhodopsin-like\x2c 7TM . . 1.016e-05 0 0 0 0 0 2.26e-05 0 0 . . . . . . . . het 306.70 17 4 8583046 . C T 306.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.251;DP=17;Dels=0.00;FS=2.187;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.251;QD=18.04;ReadPosRankSum=0.653;VQSLOD=4.2540;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,11:17:99:337,0,120 4 8583312 8583312 A C exonic GPR78 nonsynonymous SNV GPR78:NM_080819:exon1:c.A603C:p.R201S 0.15 0.029 0.22 0.025 0.32 0.22 0.3262 0.1053 0.2031 0.0200 0.3236 0.3990 0.3246 0.3401 0.23 0.071 0.31 0.11 0.24 rs17844778 COSM3749888 1(thyroid);8(large_intestine) . . . . . . . . . . . 0.178 0.221 T 0.0 0.026 B 0.001 0.040 B 0.004 0.341 N 1.000 0.090 P -1.24 0.008 N 1.02 0.407 T 0.79 0.019 N 0.046 0.026 -0.936 0.433 T 0.000 0.000 T . . . -0.101 0.084 1.725 0.284 0.015 0.001 0.006 N c -1.342 -1.267 0.942 0.275 0.455 0.088 0 1.64 0.228 0.502 0.221 -0.212 0.100 0.998 0.411 0.013 0.120 9.265 0.366 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2537 0.0683 0.1499 0.3492 0.0147 0.2365 0.3436 0.2702 0.2683 0.2195 0.0755 0.1730 0.3311 0.0197 0.2341 0.3196 0.2546 het 261.90 18 4 8583312 . A C 261.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.355;DP=18;Dels=0.00;FS=2.392;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=-0.971;QD=14.55;ReadPosRankSum=0.088;VQSLOD=6.0646;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:292,0,242 4 8589023 8589023 G A exonic GPR78 nonsynonymous SNV GPR78:NM_080819:exon3:c.G1025A:p.R342H 0.12 0.2 0.055 0.043 0.11 0.12 0.1096 0.1966 0.0462 0.0375 0.1265 0.1108 0.0945 0.1287 0.14 0.2 0.11 0.13 0.066 rs9685931 COSM448271 1(thyroid) . . . . . . . . . . . 0.499 0.078 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.345 0.033 N 0.08 0.616 T 1.16 0.011 N 0.1 0.103 -1.081 0.071 T 0.000 0.000 T . . . -1.303 0.022 0.004 0.545 0.051 0.001 0.004 N c -2.248 -2.324 0.998 0.363 0.497 0.185 0 -4.03 0.037 -2.364 0.012 -3.470 0.001 0.000 0.063 0.000 0.016 3.354 0.067 . . . 0.1024 0.1948 0.0478 0.0485 0.0394 0.1194 0.1110 0.0886 0.1284 0.1283 0.1943 0.0585 0.0667 0.0383 0.1186 0.1078 0.1176 het 1361.06 134 4 8589023 . G A 1361.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.159;DP=134;Dels=0.00;FS=0.691;HRun=0;HaplotypeScore=2.2772;MQ=58.89;MQ0=0;MQRankSum=-0.458;QD=10.16;ReadPosRankSum=0.258;VQSLOD=6.1073;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,62:134:99:1391,0,1764 4 8602884 8602884 T C exonic CPZ synonymous SNV CPZ:NM_003652:exon2:c.T123C:p.S41S,CPZ:NM_001014447:exon3:c.T156C:p.S52S 0.98 0.94 1. 1. 1. 1. 0.9953 0.9511 0.9976 1 1 0.9998 0.9977 0.9991 0.98 0.95 1. 0.97 0.82 rs4301095 COSM4159244 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9961 0.9482 0.9973 0.9997 1 1.0000 0.9998 0.9987 0.9990 0.9858 0.9504 0.9988 1 1 1 0.9998 0.9969 hom 3353.25 108 4 8602884 . T C 3353.25 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5473;MQ=59.79;MQ0=0;QD=31.05;VQSLOD=8.5243;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:108:99:3352,274,0 4 8602935 8602935 A G exonic CPZ synonymous SNV CPZ:NM_003652:exon2:c.A174G:p.S58S,CPZ:NM_001014447:exon3:c.A207G:p.S69S 0.98 0.94 1. 1. 1. 1. 0.9955 0.9518 0.9977 1 1 0.9998 0.9978 0.9997 0.98 0.95 1. 0.96 0.89 rs4431213 COSM4159245 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9963 0.9487 0.9973 0.9998 1 1.0000 0.9998 0.9987 0.9997 0.9860 0.9509 0.9988 1 1 1 0.9998 0.9980 hom 4010.21 135 4 8602935 . A G 4010.21 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9640;MQ=59.47;MQ0=0;QD=29.71;VQSLOD=7.0233;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4009,328,0 4 8603117 8603117 A T exonic CPZ nonsynonymous SNV CPZ:NM_003652:exon2:c.A356T:p.Q119L,CPZ:NM_001014447:exon3:c.A389T:p.Q130L 0.1 0.041 0.075 0.045 0.16 0.2 0.2072 0.0908 0.0977 0.0898 0.2548 0.2396 0.2028 0.2419 0.15 0.073 0.18 0.054 0.11 rs35993494 COSM3749890 1(thyroid);4(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.002 0.080 B 0.566 0.113 N 0.999 0.482 P 0.14 0.088 N -0.97 0.757 T -0.49 0.156 N 0.047 0.037 -1.090 0.055 T 0.000 0.001 T . . . -0.644 0.048 0.098 0.813 0.131 0.109 0.161 N c -1.073 -0.996 0.747 0.233 0.707 0.730 0 0.837 0.180 0.449 0.213 1.088 0.866 0.077 0.221 0.596 0.288 4.243 0.100 Frizzled domain . . 0.1538 0.0630 0.0669 0.1047 0.0580 0.1945 0.1918 0.1477 0.2047 0.1429 0.0649 0.0742 0.1233 0.0530 0.1910 0.1897 0.1633 het 428.18 21 4 8603117 . A T 428.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.187;DP=21;Dels=0.00;FS=2.602;HRun=0;HaplotypeScore=1.9783;MQ=58.89;MQ0=0;MQRankSum=-0.112;QD=20.39;ReadPosRankSum=0.187;VQSLOD=4.3171;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,14:21:99:458,0,131 4 8616096 8616096 T C exonic CPZ synonymous SNV CPZ:NM_003652:exon8:c.T1341C:p.D447D,CPZ:NM_001014447:exon9:c.T1374C:p.D458D,CPZ:NM_001014448:exon9:c.T963C:p.D321D 0.62 0.38 0.67 0.87 0.55 0.71 0.5753 0.4187 0.7101 0.8544 0.4903 0.5195 0.5905 0.6912 0.5 0.43 0.53 0.51 0.45 rs1131140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5839 0.4130 0.7004 0.6864 0.8533 0.4758 0.5124 0.5802 0.6926 0.4982 0.4322 0.6899 0.6544 0.8455 0.4736 0.4889 0.5278 het 1460.86 119 4 8616096 . T C 1460.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DP=119;Dels=0.00;FS=2.403;HRun=0;HaplotypeScore=2.9139;MQ=59.41;MQ0=0;MQRankSum=0.184;QD=12.28;ReadPosRankSum=0.647;VQSLOD=6.5722;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,56:119:99:1491,0,1621 4 8616179 8616179 T C exonic CPZ nonsynonymous SNV CPZ:NM_003652:exon8:c.T1424C:p.I475T,CPZ:NM_001014447:exon9:c.T1457C:p.I486T,CPZ:NM_001014448:exon9:c.T1046C:p.I349T 1. 0.98 1. 1. 1. 1. 0.9984 0.9828 0.9994 1 1 1.0000 1 1 0.99 0.98 1. 1. 1. rs7378066 . . . . . . . . . . . . . 0.604 0.056 T 0.0 0.026 B 0.0 0.013 B 0.535 0.116 N 1 0.090 P -1.46 0.005 N 2.92 0.099 T 2.4 0.003 N 0.019 0.354 -1.012 0.262 T 0.000 0.000 T . . . 0.384 0.131 6.470 0.723 0.096 0.039 0.091 N c -1.226 -1.081 0.049 0.148 0.635 0.413 0 3.91 0.442 1.115 0.306 -0.400 0.062 0.000 0.063 0.009 0.108 7.092 0.243 Peptidase M14\x2c carboxypeptidase A . . 0.9988 0.9827 0.9992 1 1 1 0.9999 0.9996 1 0.9946 0.9813 0.9952 1 1 1 0.9999 1 hom 2986.32 91 4 8616179 . T C 2986.32 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=60.00;MQ0=0;QD=32.82;VQSLOD=9.1295;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:3019,235,0 4 8621194 8621194 A G exonic CPZ synonymous SNV CPZ:NM_003652:exon10:c.A1776G:p.P592P,CPZ:NM_001014447:exon11:c.A1809G:p.P603P,CPZ:NM_001014448:exon11:c.A1398G:p.P466P 1. 0.98 1. 1. 1. 1. 0.9988 0.9878 0.9992 0.9999 1 0.9999 1 0.9999 1. 0.99 1. 0.99 0.93 rs28514374 COSM4159247 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9990 0.9885 0.9987 0.9999 0.9997 1 0.9999 0.9996 0.9999 0.9967 0.9887 0.9952 1 1 1 1 1 hom 1359.18 44 4 8621194 . A G 1359.18 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.89;VQSLOD=12.5577;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1392,111,0 4 9909923 9909923 G A exonic SLC2A9 nonsynonymous SNV SLC2A9:NM_020041:exon8:c.C1049T:p.P350L,SLC2A9:NM_001001290:exon9:c.C962T:p.P321L 0.27 0.028 0.41 0.2 0.48 0.36 0.4377 0.0945 0.3842 0.2383 0.5464 0.5204 0.4725 0.4162 0.38 0.1 0.52 0.22 0.46 rs2280205 COSM4999531;COSM4999530 1(pancreas) Benign Familial_renal_hypouricemia RCV000306821.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 . . . . . . 0.339 0.144 T 0.03 0.220 B 0.009 0.162 B 0.000 0.002 N 1 0.090 P 0.945 0.238 L -1.23 0.789 T -2.43 0.532 N 0.042 0.084 -0.994 0.316 T 0.000 0.000 T . . . 0.985 0.188 10.57 0.683 0.084 0.038 0.091 N c -0.872 -0.919 0.057 0.151 0.554 0.246 0 0.251 0.147 -0.742 0.049 -0.416 0.060 0.000 0.063 0.257 0.229 4.825 0.127 Major facilitator superfamily domain . . 0.4438 0.0875 0.3881 0.5617 0.2305 0.5403 0.5185 0.4695 0.4182 0.3822 0.0995 0.3976 0.6060 0.2043 0.5403 0.5158 0.5072 het 2083.59 190 4 9909923 . G A 2083.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.266;DP=190;Dels=0.00;FS=6.950;HRun=0;HaplotypeScore=0.8941;MQ=58.97;MQ0=0;MQRankSum=2.654;QD=10.97;ReadPosRankSum=0.357;VQSLOD=4.2347;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:111,79:190:99:2114,0,2898 4 9922167 9922167 C T exonic SLC2A9 nonsynonymous SNV SLC2A9:NM_020041:exon7:c.G844A:p.V282I,SLC2A9:NM_001001290:exon8:c.G757A:p.V253I 0.26 0.48 0.38 0.013 0.21 0.2 0.2395 0.4331 0.4007 0.0139 0.1730 0.2178 0.2167 0.2385 0.29 0.41 0.22 0.27 0.22 rs16890979 COSM3736360;COSM3736361 2(breast);1(bone);7(soft_tissue);1(skin) Benign Familial_renal_hypouricemia RCV000262922.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 Urate levels . .34 18834626 rs16890979 7E-168 0.158 0.239 T 0.693 0.397 P 0.114 0.354 B 0.000 0.523 N 0.905 0.276 P 2.08 0.576 M -0.93 0.752 T -0.47 0.152 N 0.027 0.009 -0.980 0.349 T 0.000 0.000 T . . . 1.117 0.201 11.31 0.955 0.265 0.885 0.481 D c -0.579 -0.641 0.955 0.281 0.554 0.246 0 1.61 0.226 1.762 0.378 0.013 0.140 0.890 0.310 0.049 0.163 9.693 0.391 Major facilitator superfamily domain . . 0.2436 0.4398 0.3984 0.2359 0.0156 0.1825 0.2190 0.2339 0.2428 0.2616 0.4294 0.3768 0.2483 0.0155 0.1747 0.2082 0.2076 het 2056.24 159 4 9922167 . C T 2056.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.841;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7939;MQ=59.62;MQ0=0;MQRankSum=1.342;QD=12.93;ReadPosRankSum=0.580;VQSLOD=5.9934;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,80:159:99:2086,0,1865 4 9982330 9982330 A G exonic SLC2A9 synonymous SNV SLC2A9:NM_020041:exon5:c.T567C:p.L189L,SLC2A9:NM_001001290:exon6:c.T480C:p.L160L 0.75 0.56 0.63 0.99 0.8 0.81 0.7717 0.5964 0.6062 0.9859 0.8390 0.7942 0.7985 0.7665 0.73 0.61 0.79 0.73 0.78 rs13125646 . . Benign Familial_renal_hypouricemia RCV000371270.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7656 0.5889 0.6083 0.7433 0.9843 0.8294 0.7936 0.7715 0.7611 0.7533 0.5991 0.6196 0.7351 0.9858 0.8330 0.8038 0.8014 het 1493.53 99 4 9982330 . A G 1493.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.020;DP=99;Dels=0.00;FS=2.752;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=1.670;QD=15.09;ReadPosRankSum=-1.818;VQSLOD=5.4897;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,56:99:99:1524,0,1146 4 9998440 9998440 C T exonic SLC2A9 synonymous SNV SLC2A9:NM_020041:exon3:c.G375A:p.T125T,SLC2A9:NM_001001290:exon4:c.G288A:p.T96T 0.64 0.69 0.58 0.51 0.75 0.64 0.7054 0.6829 0.6662 0.5062 0.7397 0.7497 0.6991 0.6586 0.73 0.68 0.75 0.55 0.59 rs10939650 COSM5468709;COSM149644 1(stomach);1(large_intestine) Benign Familial_renal_hypouricemia RCV000326734.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7013 0.6814 0.6638 0.6652 0.5075 0.7353 0.7534 0.7053 0.6581 0.7211 0.6892 0.6256 0.6324 0.5161 0.7476 0.7614 0.7378 het 1203.07 95 4 9998440 . C T 1203.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.463;DP=95;Dels=0.00;FS=3.123;HRun=0;HaplotypeScore=3.5215;MQ=58.92;MQ0=0;MQRankSum=-0.935;QD=12.66;ReadPosRankSum=-0.331;VQSLOD=5.6485;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,46:95:99:1233,0,1338 4 9998493 9998493 A G exonic SLC2A9 synonymous SNV SLC2A9:NM_020041:exon3:c.T322C:p.L108L,SLC2A9:NM_001001290:exon4:c.T235C:p.L79L 0.82 0.78 0.72 0.97 0.8 0.81 0.8015 0.7750 0.7714 0.9823 0.8027 0.7892 0.7919 0.7946 0.78 0.78 0.79 0.78 0.73 rs13113918 . . Benign Familial_renal_hypouricemia RCV000320934.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7978 0.7717 0.7694 0.7346 0.9806 0.7935 0.7901 0.7896 0.7922 0.8007 0.7805 0.7506 0.7318 0.9827 0.7994 0.7974 0.8004 het 1806.95 156 4 9998493 . A G 1806.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.546;DP=156;Dels=0.00;FS=10.158;HRun=0;HaplotypeScore=2.9946;MQ=58.29;MQ0=0;MQRankSum=-0.298;QD=11.58;ReadPosRankSum=-0.170;VQSLOD=4.5017;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,68:156:99:1837,0,2460 4 10022981 10022981 C T exonic SLC2A9 nonsynonymous SNV SLC2A9:NM_020041:exon1:c.G73A:p.G25R 0.41 0.15 0.44 0.42 0.53 0.6 0.5103 0.2058 0.5482 0.4246 0.5292 0.5371 0.5099 0.6051 0.43 0.22 0.54 0.33 0.39 rs2276961 COSM149645 1(stomach);1(pancreas);1(thyroid);3(large_intestine);1(biliary_tract) Benign Familial_renal_hypouricemia RCV000332816.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 . . . . . . 0.0 0.912 D 0.013 0.154 B 0.002 0.063 B 0.000 0.003 N 1 0.090 P 0 0.065 N -1.52 0.815 D -0.02 0.073 N 0.06 0.044 -0.985 0.339 T 0.000 0.000 T . . . 1.813 0.279 15.06 0.922 0.210 0.066 0.125 N c -1.270 -1.283 1.000 0.747 0.554 0.283 0 -0.398 0.117 -0.194 0.095 -0.856 0.029 0.000 0.063 0.000 0.016 3.668 0.077 . ENSG00000109667.7|ENSG00000109667.7|ENSG00000250413.1|ENSG00000109667.7 Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Testis 0.5160 0.2006 0.5390 0.5174 0.4259 0.5294 0.5401 0.5135 0.6015 0.4366 0.2146 0.4821 0.4934 0.4235 0.5406 0.5330 0.5337 het 2346.61 146 4 10022981 . C T 2346.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.949;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4640;MQ=59.68;MQ0=0;MQRankSum=0.493;QD=16.07;ReadPosRankSum=-1.423;VQSLOD=4.3444;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,84:146:99:2377,0,1539 4 10446385 10446385 C T exonic ZNF518B nonsynonymous SNV ZNF518B:NM_053042:exon3:c.G1568A:p.S523N 0.99 0.97 1. 1. 1. 1. 0.9974 0.9706 0.9989 1 1 1.0000 0.9989 0.9999 0.99 0.97 1. 0.97 1. rs9291410 . . . . . . . . . . . . . 0.657 0.047 T 0.0 0.026 B 0.0 0.013 B 0.260 0.037 N 1 0.090 P 0.345 0.112 N 4.84 0.015 T 0.64 0.024 N 0.007 0.000 -0.994 0.316 T 0.000 0.000 T . . . -0.892 0.036 0.027 0.138 0.003 0.014 0.047 N c -1.544 -1.464 0.148 0.174 0.707 0.730 0 1.61 0.226 0.307 0.189 -0.211 0.100 0.000 0.063 0.000 0.016 1.124 0.016 . . . 0.9980 0.9715 0.9985 1 1 1 0.9999 0.9995 1.0000 0.9911 0.9686 0.9988 1 1 1 1 0.9990 hom 3382.18 110 4 10446385 . C T 3382.18 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.38;MQ0=0;QD=30.75;VQSLOD=9.0209;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3382,265,0 4 10446906 10446906 A G exonic ZNF518B synonymous SNV ZNF518B:NM_053042:exon3:c.T1047C:p.D349D 0.8 0.89 0.72 0.79 0.76 0.78 0.7507 0.8688 0.6592 0.8116 0.6807 0.7404 0.7390 0.7786 0.78 0.86 0.74 0.78 0.71 rs10016022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7434 0.8733 0.6743 0.7474 0.8133 0.6768 0.7391 0.7381 0.7784 0.7719 0.8631 0.6850 0.7351 0.8214 0.6877 0.7398 0.7541 hom 4147.52 121 4 10446906 . A G 4147.52 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7065;MQ=59.62;MQ0=0;QD=34.28;VQSLOD=9.1933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:4147,343,0 4 10447640 10447640 A G exonic ZNF518B nonsynonymous SNV ZNF518B:NM_053042:exon3:c.T313C:p.S105P 0.21 0.43 0.12 0.17 0.092 0.15 0.1254 0.3919 0.0889 0.1512 0.0550 0.0936 0.0925 0.1284 0.2 0.38 0.1 0.24 0.082 rs10016702 COSM149647 1(stomach);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.751 0.097 N 1 0.090 P -2.075 0.002 N 4.77 0.016 T -0.09 0.084 N 0.029 0.010 -1.026 0.218 T 0.000 0.000 T . . . -0.773 0.041 0.049 0.089 0.001 0.021 0.062 N c -1.249 -1.183 0.117 0.168 0.707 0.730 0 0.517 0.161 0.009 0.130 -0.411 0.061 0.000 0.063 0.178 0.212 3.572 0.074 . . . 0.1173 0.3999 0.0874 0.0598 0.1513 0.0554 0.0971 0.1052 0.1286 0.1755 0.3947 0.0979 0.0662 0.1467 0.0538 0.0912 0.0967 het 1288.25 111 4 10447640 . A G 1288.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.089;DP=111;Dels=0.00;FS=4.775;HRun=2;HaplotypeScore=0.9983;MQ=59.58;MQ0=0;MQRankSum=1.389;QD=11.61;ReadPosRankSum=1.570;VQSLOD=5.6894;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,49:111:99:1318,0,1795 4 10502937 10502937 T G exonic CLNK synonymous SNV CLNK:NM_052964:exon18:c.A1083C:p.I361I 0.99 0.96 1. 1. 1. 1. 0.9976 0.9727 0.9990 1 1 0.9999 0.9978 1 0.99 0.97 1. 0.97 . rs2903960 . . Benign not_specified RCV000454809.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9728 0.9984 1 1 1 0.9999 0.9990 1.0000 0.9929 0.9753 0.9988 1 1 1 1 0.9980 hom 2208.89 74 4 10502937 . T G 2208.89 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9905;MQ=58.64;MQ0=0;QD=29.85;VQSLOD=8.5823;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2242,172,0 4 11401012 11401012 A G exonic HS3ST1 synonymous SNV HS3ST1:NM_005114:exon2:c.T618C:p.F206F 0.25 0.32 0.19 0.18 0.2 0.32 0.2332 0.2955 0.1996 0.1870 0.2853 0.2122 0.2238 0.3057 0.24 0.29 0.21 0.24 0.25 rs1047385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2293 0.2957 0.1908 0.1728 0.1834 0.2909 0.2121 0.2098 0.3034 0.2475 0.2920 0.1878 0.1325 0.1768 0.2890 0.2250 0.2495 het 957.01 65 4 11401012 . A G 957.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.256;DP=65;Dels=0.00;FS=8.604;HRun=0;HaplotypeScore=3.7445;MQ=59.36;MQ0=0;MQRankSum=-0.190;QD=14.72;ReadPosRankSum=1.386;VQSLOD=4.5553;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,34:65:99:987,0,879 4 11401087 11401087 A G exonic HS3ST1 synonymous SNV HS3ST1:NM_005114:exon2:c.T543C:p.D181D 0.25 0.32 0.19 0.19 0.2 0.32 0.2337 0.2950 0.1997 0.1903 0.2864 0.2122 0.2223 0.3081 0.24 0.29 0.21 0.24 0.25 rs1047389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2300 0.2960 0.1910 0.1727 0.1866 0.2910 0.2123 0.2098 0.3062 0.2471 0.2908 0.1878 0.1325 0.1811 0.2887 0.2248 0.2480 het 1316 124 4 11401087 . A G 1316 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.219;DP=124;Dels=0.00;FS=3.458;HRun=0;HaplotypeScore=0.9983;MQ=59.17;MQ0=0;MQRankSum=0.369;QD=10.61;ReadPosRankSum=-0.145;VQSLOD=6.5944;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,56:124:99:1346,0,1812 4 13545792 13545792 G T exonic NKX3-2 synonymous SNV NKX3-2:NM_001189:exon1:c.C247A:p.R83R 0.64 0.36 0.65 0.97 0.67 0.66 0.6860 0.4178 0.7157 0.9587 0.7677 0.6743 0.7010 0.6603 0.6 0.45 0.68 0.39 0.39 rs9684692 COSM3760379 1(liver);7(large_intestine);1(central_nervous_system) Benign not_specified RCV000173248.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6811 0.3911 0.7039 0.6130 0.9616 0.7549 0.6654 0.6673 0.6530 0.6197 0.3942 0.6815 0.6556 0.9561 0.7730 0.6687 0.6988 het 121.03 20 4 13545792 . G T 121.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.773;DP=20;Dels=0.00;FS=1.922;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;MQRankSum=0.866;QD=6.05;ReadPosRankSum=-1.361;VQSLOD=3.0784;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,6:20:99:151,0,347 4 13604182 13604182 T C exonic BOD1L1 nonsynonymous SNV BOD1L1:NM_148894:exon10:c.A4342G:p.T1448A 0.13 0.14 0.21 0.003 0.15 0.18 0.1445 0.1507 0.1845 0.0010 0.0917 0.1466 0.1515 0.2003 0.15 0.15 0.15 0.13 . rs17745676 COSM3760380 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.017 0.512 D 0.009 0.139 B 0.007 0.121 B 0.012 0.292 N 1 0.090 P 1.625 0.417 L 3.19 0.074 T -1.2 0.305 N 0.041 0.021 -0.955 0.401 T 0.000 0.000 T . . . -0.459 0.058 0.277 0.838 0.144 0.178 0.198 N c -1.034 -1.024 0.995 0.337 0.722 0.854 0 2.86 0.323 -0.105 0.108 0.080 0.190 0.000 0.063 0.057 0.169 7.954 0.290 . ENSG00000246095.2|ENSG00000109705.7 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg 0.1459 0.1506 0.1860 0.1825 0.0009 0.0926 0.1476 0.1460 0.2021 0.1299 0.1517 0.1806 0.1457 0.0006 0.0859 0.1376 0.1395 het 1331.83 94 4 13604182 . T C 1331.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.632;DP=94;Dels=0.00;FS=4.126;HRun=0;HaplotypeScore=1.8273;MQ=59.36;MQ0=0;MQRankSum=2.065;QD=14.17;ReadPosRankSum=-0.513;VQSLOD=5.7491;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,52:94:99:1362,0,978 4 13604418 13604418 G C exonic BOD1L1 nonsynonymous SNV BOD1L1:NM_148894:exon10:c.C4106G:p.A1369G 0.14 0.16 0.21 0.003 0.15 0.18 0.1459 0.1672 0.1849 0.0010 0.0916 0.1465 0.1512 0.2001 0.15 0.16 0.15 0.14 . rs17745712 COSM3760381 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.290 0.148 N 1 0.090 P -2.24 0.001 N 3.23 0.070 T 0.87 0.017 N 0.017 0.003 -0.921 0.454 T 0.000 0.000 T . . . -0.960 0.034 0.019 0.062 0.000 0.016 0.052 N c -1.341 -1.251 0.991 0.324 0.707 0.730 0 2.24 0.271 -0.151 0.101 -0.397 0.063 0.002 0.151 0.078 0.180 5.425 0.156 . ENSG00000246095.2|ENSG00000109705.7 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg 0.1470 0.1671 0.1865 0.1826 0.0009 0.0925 0.1475 0.1469 0.2018 0.1345 0.1679 0.1862 0.1457 0.0006 0.0856 0.1376 0.1395 het 2343.72 149 4 13604418 . G C 2343.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.067;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=58.56;MQ0=0;MQRankSum=0.052;QD=15.73;ReadPosRankSum=-1.378;VQSLOD=5.9637;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,86:149:99:2374,0,1663 4 13606576 13606576 A T exonic BOD1L1 nonsynonymous SNV BOD1L1:NM_148894:exon10:c.T1948A:p.L650I 0.72 0.3 0.85 0.97 0.81 0.86 0.8074 0.3762 0.8996 0.9635 0.8497 0.8187 0.8433 0.8677 0.66 0.37 0.81 0.69 . rs1971278 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.420 0.046 N 1 0.090 P -1.7 0.004 N 3.31 0.063 T 0.7 0.022 N 0.016 0.003 -1.025 0.221 T 0.000 0.000 T . . . -2.724 0.002 0.001 0.164 0.004 0.010 0.037 N c -1.989 -1.923 0.666 0.223 0.719 0.830 0 -3.2 0.048 -0.097 0.109 -0.676 0.039 0.004 0.165 0.959 0.439 11.233 0.480 . . . 0.8187 0.3710 0.8907 0.8173 0.9648 0.8517 0.8159 0.8148 0.8684 0.7061 0.3805 0.8628 0.8344 0.9549 0.8591 0.8134 0.8316 hom 3596.29 114 4 13606576 . A T 3596.29 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8245;MQ=59.39;MQ0=0;QD=31.55;VQSLOD=9.1624;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:114:99:3596,286,0 4 13615174 13615174 G A exonic BOD1L1 nonsynonymous SNV BOD1L1:NM_148894:exon5:c.C1286T:p.T429M 0.14 0.16 0.21 0.003 0.15 0.18 0.1455 0.1626 0.1844 0.0012 0.0906 0.1464 0.1515 0.2010 0.15 0.16 0.15 0.13 . rs2035820 COSM3760382 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.253 0.155 N 1 0.090 P -0.895 0.014 N 3.31 0.063 T 1.6 0.007 N 0.036 0.016 -0.928 0.444 T 0.000 0.000 T . . . -0.033 0.091 2.280 0.048 0.000 0.129 0.174 N c -1.009 -0.780 1.000 0.517 0.707 0.730 0 3.99 0.454 2.376 0.437 -0.240 0.092 0.968 0.339 0.989 0.536 9.655 0.389 . ENSG00000246095.2|ENSG00000109705.7 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg 0.1463 0.1623 0.1857 0.1808 0.0010 0.0915 0.1471 0.1459 0.2022 0.1340 0.1667 0.1850 0.1457 0.0006 0.0849 0.1374 0.1391 het 1767.19 162 4 13615174 . G A 1767.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.302;DP=162;Dels=0.00;FS=4.711;HRun=0;HaplotypeScore=3.8776;MQ=58.69;MQ0=0;MQRankSum=1.285;QD=10.91;ReadPosRankSum=-0.329;VQSLOD=5.2502;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,73:162:99:1797,0,2201 4 15538666 15538666 G A exonic CC2D2A synonymous SNV CC2D2A:NM_001080522:exon16:c.G1731A:p.S577S 0.0002 . . . 0.001 . 0.0001 0.0001 8.758e-05 0 0 0.0002 0 0.0001 0.0001 0.0003 . . . rs376746356 . . Uncertain significance|Uncertain significance|Uncertain significance|Likely benign CC2D2A-Related_Disorders|Meckel-Gruber_syndrome|Joubert_syndrome|not_specified RCV000310945.1|RCV000352257.1|RCV000394900.1|RCV000431421.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet:SNOMED_CT:SNOMED_CT|MedGen CN239313|C0265215:ORPHA564:29076005|C0431399:ORPHA475:253175003:716997004|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 6.545e-05 0.0003 0 0 0 0.0002 0.0002 6.507e-05 0.0001 0 0 0 0 0 0.0003 0 het 1060.56 83 4 15538666 . G A 1060.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.401;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.13;MQ0=0;MQRankSum=1.426;QD=12.78;ReadPosRankSum=0.014;VQSLOD=4.7629;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,40:83:99:1091,0,1017 4 15937731 15937731 T C exonic FGFBP1 synonymous SNV FGFBP1:NM_005130:exon3:c.A525G:p.K175K 0.91 0.88 0.96 0.82 0.97 0.97 0.9540 0.9013 0.9829 0.8277 0.9837 0.9652 0.9604 0.9754 0.94 0.9 0.96 0.94 0.98 rs2072313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9567 0.9009 0.9822 0.9758 0.8244 0.9851 0.9640 0.9664 0.9758 0.9437 0.9065 0.9773 0.9868 0.8078 0.9837 0.9670 0.9582 hom 4453.54 129 4 15937731 . T C 4453.54 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.302;DP=129;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.2677;MQ=58.92;MQ0=0;MQRankSum=-1.652;QD=34.52;ReadPosRankSum=1.652;VQSLOD=7.0065;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,128:129:99:4420,322,0 4 15964485 15964485 G A exonic FGFBP2 nonsynonymous SNV FGFBP2:NM_031950:exon1:c.C268T:p.P90S 0.34 0.22 0.3 0.5 0.47 0.22 0.4032 0.2367 0.2756 0.4943 0.4621 0.4561 0.4107 0.2741 0.39 0.24 0.46 0.38 0.58 rs758329 COSM447553 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.353 0.122 T 0.126 0.253 B 0.042 0.227 B 0.386 0.133 U 1 0.090 P 0.345 0.112 N 2.66 0.126 T 0.98 0.015 N 0.073 0.062 -0.972 0.367 T 0.000 0.000 T . . . -0.653 0.047 0.093 0.804 0.127 0.288 0.234 N c -1.202 -1.160 0.999 0.377 0.487 0.133 0 1.08 0.194 0.796 0.265 -1.013 0.021 0.980 0.350 0.129 0.199 5.932 0.183 . ENSG00000137441.7|ENSG00000137441.7|ENSG00000137441.7 Heart_Left_Ventricle|Nerve_Tibial|Testis 0.3944 0.2300 0.2897 0.3335 0.4948 0.4752 0.4592 0.4123 0.2617 0.3946 0.2371 0.2902 0.3543 0.5223 0.4576 0.4616 0.4418 het 1409.97 105 4 15964485 . G A 1409.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.548;DP=105;Dels=0.00;FS=2.536;HRun=0;HaplotypeScore=1.7333;MQ=59.56;MQ0=0;MQRankSum=-0.389;QD=13.43;ReadPosRankSum=1.682;VQSLOD=6.3008;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,57:105:99:1440,0,1358 4 15964501 15964501 G A exonic FGFBP2 synonymous SNV FGFBP2:NM_031950:exon1:c.C252T:p.F84F 0.51 0.31 0.65 0.44 0.52 0.74 0.5513 0.3641 0.7014 0.4483 0.5377 0.5377 0.5735 0.7182 0.48 0.38 0.53 0.38 0.35 rs2286459 COSM3760460 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5598 0.3577 0.6828 0.6468 0.4445 0.5275 0.5345 0.5573 0.7065 0.4810 0.3537 0.6659 0.6258 0.4168 0.5418 0.5313 0.5296 het 1265.71 101 4 15964501 . G A 1265.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.959;DP=101;Dels=0.00;FS=0.761;HRun=3;HaplotypeScore=0.8941;MQ=59.54;MQ0=0;MQRankSum=-0.242;QD=12.53;ReadPosRankSum=-1.456;VQSLOD=6.4371;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,46:101:99:1296,0,1291 4 15964573 15964573 A G exonic FGFBP2 synonymous SNV FGFBP2:NM_031950:exon1:c.T180C:p.R60R 0.92 0.73 0.97 1. 1. 1. 0.9773 0.7614 0.9885 0.9998 0.9998 0.9984 0.9879 0.9990 0.92 0.77 1. 0.85 0.94 rs758328 COSM4158889 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9812 0.7492 0.9865 0.9991 0.9999 0.9997 0.9983 0.9879 0.9992 0.9304 0.7604 0.9749 1 1 0.9994 0.9980 0.9878 hom 3543.98 115 4 15964573 . A G 3543.98 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=30.82;VQSLOD=9.0631;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3543,298,0 4 15964670 15964670 C T exonic FGFBP2 nonsynonymous SNV FGFBP2:NM_031950:exon1:c.G83A:p.S28N 0.12 0.079 0.13 0.085 0.15 0.17 0.1427 0.1005 0.0792 0.0799 0.1836 0.1583 0.1693 0.1665 0.13 0.097 0.15 0.087 0.11 rs35496730 COSM3760462 1(large_intestine) . . . . . . . . . . . 0.197 0.206 T 0.001 0.067 B 0.006 0.112 B 0.584 0.055 U 1 0.090 P 0.695 0.181 N 2.37 0.160 T -0.17 0.096 N 0.008 0.000 -0.961 0.390 T 0.000 0.000 T . . . -1.249 0.024 0.005 0.526 0.047 0.030 0.078 N c -1.523 -1.584 0.999 0.380 0.526 0.212 0 -2.08 0.068 0.026 0.134 -0.899 0.026 0.190 0.240 0.030 0.147 3.579 0.074 . . . 0.1383 0.0997 0.0775 0.1500 0.0789 0.1783 0.1546 0.1476 0.1635 0.1454 0.1017 0.0769 0.1433 0.0729 0.1828 0.1731 0.1564 het 1456.93 125 4 15964670 . C T 1456.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.923;DP=125;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6988;MQ=59.67;MQ0=0;MQRankSum=-0.830;QD=11.66;ReadPosRankSum=1.266;VQSLOD=5.4185;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,57:125:99:1487,0,1860 4 16020162 16020162 C T exonic PROM1 synonymous SNV PROM1:NM_001145851:exon7:c.G759A:p.A253A,PROM1:NM_001145852:exon7:c.G759A:p.A253A,PROM1:NM_001145847:exon8:c.G759A:p.A253A,PROM1:NM_001145848:exon8:c.G759A:p.A253A,PROM1:NM_001145849:exon8:c.G786A:p.A262A,PROM1:NM_001145850:exon8:c.G786A:p.A262A,PROM1:NM_006017:exon8:c.G786A:p.A262A 0.14 0.026 0.16 0.24 0.094 0.21 0.1736 0.0550 0.2811 0.2952 0.1522 0.1492 0.1480 0.2167 0.084 0.042 0.1 0.098 . rs2286455 COSM4417263;COSM4417262 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cone-Rod_Dystrophy\x2c_Dominant|Retinitis_Pigmentosa\x2c_Recessive|Stargardt_Disease\x2c_Dominant|Retinal_Macular_Dystrophy RCV000250373.1|RCV000279196.1|RCV000336486.1|RCV000375986.1|RCV000379416.1 MedGen|MedGen|MedGen|MedGen|MedGen CN169374|CN239348|CN239466|CN239307|CN239469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1429 0.0431 0.2028 0.1306 0.2473 0.1186 0.1148 0.1295 0.1925 0.1076 0.0438 0.1878 0.1589 0.2376 0.1212 0.1222 0.1049 het 253.47 20 4 16020162 . C T 253.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.928;DP=20;Dels=0.00;FS=2.271;HRun=1;HaplotypeScore=3.1093;MQ=58.84;MQ0=0;MQRankSum=1.021;QD=12.67;ReadPosRankSum=-0.567;VQSLOD=6.2897;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,10:20:99:283,0,236 4 17517099 17517099 A G exonic CLRN2 synonymous SNV CLRN2:NM_001079827:exon1:c.A210G:p.K70K 0.98 0.94 0.99 1. 1. 1. 0.9942 0.9340 0.9969 1 1 0.9999 0.9978 0.9998 0.98 0.94 1. 0.98 . rs1551091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9952 0.9330 0.9966 1 1 1 0.9999 0.9978 0.9998 0.9804 0.9312 0.9964 0.9967 1 1 0.9999 0.9980 hom 2308.49 74 4 17517099 . A G 2308.49 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8279;MQ=59.50;MQ0=0;QD=31.20;VQSLOD=8.8653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2341,178,0 4 17586703 17586703 T C exonic LAP3 synonymous SNV LAP3:NM_015907:exon6:c.T648C:p.A216A 0.76 0.84 0.76 0.9 0.66 0.63 0.7088 0.8170 0.8473 0.9343 0.7269 0.6546 0.6876 0.6381 0.7 0.82 0.63 0.76 0.67 rs3733576 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7077 0.8156 0.8352 0.5355 0.9298 0.7256 0.6520 0.6771 0.6401 0.7273 0.8153 0.7936 0.5967 0.9327 0.7426 0.6520 0.6851 het 1541.95 149 4 17586703 . T C 1541.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.093;DP=149;Dels=0.00;FS=3.935;HRun=1;HaplotypeScore=0.9916;MQ=59.72;MQ0=0;MQRankSum=1.307;QD=10.35;ReadPosRankSum=0.506;VQSLOD=6.2087;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,67:149:99:1572,0,2317 4 17818885 17818885 T C exonic NCAPG synonymous SNV NCAPG:NM_022346:exon6:c.T777C:p.D259D 0.35 0.1 0.46 0.22 0.6 0.47 0.5024 0.1684 0.4666 0.2034 0.5896 0.5837 0.5443 0.5312 0.44 0.17 0.58 0.29 0.47 rs2302212 COSM1428600 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5033 0.1600 0.4666 0.5243 0.2026 0.5967 0.5824 0.5380 0.5175 0.4480 0.1670 0.4618 0.53 0.2092 0.6090 0.5899 0.5602 het 1404.81 120 4 17818885 . T C 1404.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.128;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9142;MQ=58.71;MQ0=0;MQRankSum=0.423;QD=11.71;ReadPosRankSum=0.534;VQSLOD=6.4144;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,56:120:99:1435,0,1610 4 17829990 17829990 G C exonic NCAPG nonsynonymous SNV NCAPG:NM_022346:exon12:c.G1743C:p.M581I 0.14 0.088 0.12 0.16 0.09 0.26 0.1288 0.0856 0.1041 0.1362 0.0542 0.1214 0.1148 0.2304 0.12 0.088 0.13 0.13 0.16 rs3795243 . . . . . . . . . . . . . 0.761 0.110 T 0.015 0.158 B 0.02 0.179 B 0.000 0.843 D 0.055 0.375 P 1.03 0.257 L 1.2 0.374 T -0.7 0.199 N 0.059 0.043 -1.053 0.136 T 0.001 0.002 T . . . 1.033 0.193 10.85 0.505 0.043 0.916 0.536 D c -0.328 -0.149 1.000 0.517 0.732 0.924 0 5.01 0.663 3.256 0.509 0.902 0.416 1.000 0.715 0.949 0.424 7.943 0.290 Armadillo-type fold|Nuclear condensin complex subunit 3\x2c C-terminal domain;Nuclear condensin complex subunit 3\x2c C-terminal domain ENSG00000109805.5 Testis 0.1290 0.0847 0.1095 0.2211 0.1344 0.0542 0.1198 0.1265 0.2278 0.1046 0.0953 0.1172 0.2185 0.1434 0.0562 0.1145 0.0982 het 1436.07 135 4 17829990 . G C 1436.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.011;DP=135;Dels=0.00;FS=0.683;HRun=0;HaplotypeScore=3.7672;MQ=58.92;MQ0=0;MQRankSum=0.586;QD=10.64;ReadPosRankSum=-0.845;VQSLOD=5.8820;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,57:135:99:1466,0,1996 4 22439914 22439914 A C exonic ADGRA3 synonymous SNV ADGRA3:NM_145290:exon8:c.T1050G:p.P350P 0.55 0.26 0.64 0.62 0.75 0.6 0.6781 0.3453 0.7050 0.6525 0.7434 0.7376 0.6751 0.6158 0.6 0.35 0.74 0.49 0.76 rs6823735 COSM5446643;COSM5446644 1(breast);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6873 0.3381 0.7051 0.7617 0.6469 0.7477 0.7373 0.7000 0.6134 0.6152 0.3435 0.6957 0.7152 0.6270 0.7456 0.7301 0.6892 hom 5404.10 195 4 22439914 . A C 5404.10 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.99;MQ0=6;QD=27.71;VQSLOD=6.6317;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:3,192:195:99:5403,424,0 4 22820504 22820504 A T exonic GBA3 unknown UNKNOWN 0.89 0.97 0.89 0.8 0.85 0.92 0.8653 0.9626 0.8957 0.7789 0.8457 0.8489 0.8563 0.9051 0.88 0.96 0.85 0.91 . rs358231 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.671 0.158 8.637 0.743 0.103 0.122 0.169 N n 0.767 -0.029 0.000 0.035 0.487 0.133 0 2.03 0.256 0.285 0.185 -0.670 0.040 0.995 0.385 0.771 0.327 4.741 0.123 . . . 0.8638 0.9631 0.8963 0.8279 0.7760 0.8415 0.8511 0.8460 0.9044 0.8841 0.9583 0.8717 0.8609 0.7815 0.8436 0.8637 0.8646 het 555.09 51 4 22820504 . A T 555.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.689;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=59.18;MQ0=0;MQRankSum=-0.028;QD=10.88;ReadPosRankSum=0.104;VQSLOD=6.7446;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,24:51:99:585,0,703 4 23814707 23814707 G A exonic PPARGC1A nonsynonymous SNV PPARGC1A:NM_001330753:exon8:c.C1454T:p.T485M,PPARGC1A:NM_013261:exon9:c.C1835T:p.T612M,PPARGC1A:NM_001330752:exon10:c.C1799T:p.T600M,PPARGC1A:NM_001330751:exon11:c.C1850T:p.T617M 0.11 0.063 0.11 0.17 0.067 0.15 0.0828 0.0585 0.1059 0.1818 0.1033 0.0569 0.1112 0.1249 0.057 0.062 0.054 0.098 0.082 rs3736265 COSM4986633 3(soft_tissue) . . . . . . . . . . . 0.028 0.461 D 0.0 0.026 B 0.0 0.013 B 0.045 0.236 N 1 0.090 P 0.895 0.225 L 0.96 0.429 T -1.01 0.266 N 0.035 0.015 -1.076 0.082 T 0.000 0.000 T . . . 1.409 0.232 12.83 0.980 0.368 0.114 0.165 N c -0.650 -0.613 0.140 0.173 0.554 0.283 0 1.74 0.235 1.510 0.352 0.135 0.219 0.006 0.172 0.978 0.483 5.315 0.151 . . . 0.0859 0.0595 0.0988 0.0851 0.1846 0.1086 0.0546 0.0903 0.1267 0.0721 0.0611 0.0895 0.0497 0.1771 0.1062 0.0582 0.0827 het 2968.45 240 4 23814707 . G A 2968.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.859;DP=240;DS;Dels=0.00;FS=5.279;HRun=0;HaplotypeScore=6.5077;MQ=59.02;MQ0=0;MQRankSum=-0.064;QD=12.37;ReadPosRankSum=-0.044;VQSLOD=4.9219;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:128,112:240:99:2998,0,3169 4 23815522 23815522 C T exonic PPARGC1A synonymous SNV PPARGC1A:NM_001330753:exon7:c.G1203A:p.T401T,PPARGC1A:NM_013261:exon8:c.G1584A:p.T528T,PPARGC1A:NM_001330752:exon9:c.G1548A:p.T516T,PPARGC1A:NM_001330751:exon10:c.G1599A:p.T533T 0.35 0.24 0.33 0.45 0.43 0.34 0.3720 0.2391 0.3106 0.4342 0.3295 0.4101 0.3855 0.3284 0.35 0.24 0.41 0.46 0.29 rs3755863 COSM1429208 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3703 0.2328 0.3213 0.4848 0.4263 0.3325 0.4036 0.3955 0.3276 0.3323 0.2401 0.3258 0.4567 0.4384 0.3332 0.3705 0.3592 het 2371.91 169 4 23815522 . C T 2371.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.209;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7287;MQ=59.45;MQ0=0;MQRankSum=0.036;QD=14.03;ReadPosRankSum=1.211;VQSLOD=6.5089;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,89:169:99:2402,0,2134 4 23815662 23815662 C T exonic PPARGC1A nonsynonymous SNV PPARGC1A:NM_001330753:exon7:c.G1063A:p.G355S,PPARGC1A:NM_013261:exon8:c.G1444A:p.G482S,PPARGC1A:NM_001330752:exon9:c.G1408A:p.G470S,PPARGC1A:NM_001330751:exon10:c.G1459A:p.G487S 0.27 0.045 0.26 0.44 0.36 0.29 0.3081 0.0883 0.2469 0.4328 0.2949 0.3472 0.3190 0.2708 0.26 0.1 0.35 0.32 0.22 rs8192678 COSM3760554 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.053 0.211 B 0.004 0.093 B 0.000 0.491 N 1.000 0.210 P -1.32 0.007 N 2.09 0.201 T 1.04 0.013 N 0.024 0.007 -0.944 0.421 T 0.000 0.000 T . . . 1.401 0.232 12.79 0.385 0.026 0.042 0.096 N c -0.679 -0.374 0.975 0.295 0.554 0.283 0 6.02 0.975 2.212 0.422 0.154 0.240 1.000 0.715 1.000 0.888 10.887 0.460 . . . 0.3089 0.0842 0.2591 0.3695 0.4260 0.2981 0.3444 0.3221 0.2678 0.2574 0.0964 0.2685 0.3333 0.4337 0.2997 0.3175 0.2998 het 2824.59 176 4 23815662 . C T 2824.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.273;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3582;MQ=59.31;MQ0=0;MQRankSum=-1.059;QD=16.05;ReadPosRankSum=0.036;VQSLOD=5.7597;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,99:176:99:2855,0,1971 4 23815924 23815924 T C exonic PPARGC1A synonymous SNV PPARGC1A:NM_001330753:exon7:c.A801G:p.T267T,PPARGC1A:NM_013261:exon8:c.A1182G:p.T394T,PPARGC1A:NM_001330752:exon9:c.A1146G:p.T382T,PPARGC1A:NM_001330751:exon10:c.A1197G:p.T399T 0.88 0.99 0.9 0.78 0.82 0.87 0.8365 0.9647 0.9147 0.7709 0.8401 0.8079 0.8282 0.8502 0.85 0.96 0.8 0.92 0.74 rs2970847 COSM3760555 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8371 0.9661 0.9117 0.8780 0.7701 0.8395 0.7993 0.8503 0.8481 0.8549 0.9620 0.8986 0.8245 0.7724 0.8330 0.8063 0.8292 hom 3040.31 97 4 23815924 . T C 3040.31 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=31.34;VQSLOD=9.4875;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3073,253,0 4 24801315 24801315 G A exonic SOD3 nonsynonymous SNV SOD3:NM_003102:exon2:c.G172A:p.A58T 0.4 0.14 0.46 0.36 0.63 0.52 0.6032 0.2624 0.4783 0.4010 0.7971 0.6856 0.6064 0.5351 0.53 0.26 0.66 0.3 0.24 rs2536512 COSM3749868 3(thyroid);6(large_intestine) . . . . . . . . . . . 0.702 0.041 T 0.188 0.276 B 0.009 0.133 B 0.413 0.130 N 1 0.090 P 1.87 0.498 L 0.86 0.468 T 0.25 0.045 N 0.024 0.007 -0.939 0.429 T 0.000 0.000 T . . . -0.755 0.042 0.054 0.893 0.181 0.048 0.104 N c -1.194 -1.245 0.991 0.324 0.726 0.872 0 -1.33 0.086 -2.060 0.015 -1.262 0.014 0.000 0.063 0.000 0.016 2.362 0.040 Superoxide dismutase\x2c copper/zinc binding domain ENSG00000109610.5 Esophagus_Mucosa 0.5525 0.1909 0.4054 0.6123 0.3290 0.7456 0.6614 0.5664 0.5235 0.5141 0.2052 0.4031 0.6026 0.3300 0.7378 0.6611 0.5951 het 64.20 14 4 24801315 . G A 64.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.636;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.495;QD=4.59;ReadPosRankSum=-1.061;VQSLOD=9.3156;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,4:14:94.19:94,0,281 4 25005193 25005193 G A exonic LGI2 synonymous SNV LGI2:NM_018176:exon8:c.C1518T:p.Y506Y 0.77 0.91 0.65 0.97 0.46 0.75 0.6006 0.8549 0.6749 0.9735 0.5785 0.4734 0.5927 0.7159 0.59 0.84 0.46 0.78 0.39 rs2232028 COSM3760557 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5963 0.8625 0.6628 0.4745 0.9697 0.5837 0.4654 0.5493 0.7125 0.6257 0.8489 0.6420 0.4735 0.9575 0.5814 0.4759 0.5704 het 1042.59 69 4 25005193 . G A 1042.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.063;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.72;MQ0=0;MQRankSum=2.120;QD=15.11;ReadPosRankSum=0.409;VQSLOD=5.9182;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,41:69:99:1073,0,652 4 25125703 25125703 C G exonic SEPSECS nonsynonymous SNV SEPSECS:NM_016955:exon11:c.G1356C:p.K452N 0.11 0.16 0.11 0.11 0.057 0.11 0.0668 0.1439 0.0805 0.1224 0.0446 0.0443 0.0695 0.0791 0.077 0.14 0.046 0.098 0.041 rs2302566 COSM5002050;COSM5002049 1(pancreas) Benign|Likely benign not_specified|Pontoneocerebellar_hypoplasia RCV000118326.2|RCV000284502.1 MedGen|MedGen:SNOMED_CT CN169374|C1261175:373666002 . . . . . . 0.177 0.222 T 0.963 0.657 D 0.777 0.630 P 0.000 0.843 D 0.000 0.530 P 2.67 0.784 M -1.64 0.825 D -1.19 0.303 N 0.054 0.036 -0.825 0.536 T 0.008 0.028 T . . . 2.389 0.348 18.75 0.996 0.769 0.845 0.433 D c 0.110 0.050 0.409 0.202 0.707 0.730 0 1.05 0.192 1.064 0.300 0.039 0.154 1.000 0.715 0.993 0.574 2.888 0.053 Pyridoxal phosphate-dependent transferase . . 0.0658 0.1458 0.0718 0.0352 0.1273 0.0496 0.0457 0.0670 0.0791 0.0769 0.1406 0.0718 0.0265 0.1104 0.0426 0.0463 0.0633 het 1091.42 92 4 25125703 . C G 1091.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DP=92;Dels=0.00;FS=3.993;HRun=0;HaplotypeScore=2.5564;MQ=59.19;MQ0=0;MQRankSum=1.554;QD=11.86;ReadPosRankSum=-0.601;VQSLOD=5.6538;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,44:92:99:1121,0,1191 4 25253995 25253995 C T exonic PI4K2B synonymous SNV PI4K2B:NM_018323:exon2:c.C321T:p.A107A 0.79 0.8 0.82 0.68 0.84 0.82 0.8272 0.8018 0.8239 0.6995 0.8725 0.8466 0.8227 0.8159 0.83 0.81 0.84 0.77 0.86 rs313567 COSM4159011 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8254 0.7992 0.8141 0.8465 0.7033 0.8664 0.8436 0.8283 0.8160 0.8269 0.8097 0.8002 0.8510 0.7048 0.8586 0.8425 0.8442 hom 3206.43 100 4 25253995 . C T 3206.43 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=32.06;VQSLOD=9.8482;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3239,247,0 4 25363901 25363901 T A exonic ZCCHC4 nonsynonymous SNV ZCCHC4:NM_024936:exon10:c.T1187A:p.L396H 0.88 0.99 0.88 0.74 0.89 0.84 0.8744 0.9796 0.8300 0.7653 0.9188 0.8876 0.8653 0.8299 0.92 0.98 0.89 0.9 0.88 rs315675 . . . . . . . . . . . . . 0.16 0.237 T 0.0 0.026 B 0.0 0.013 B 0.024 0.264 N 1.000 0.090 P -1.145 0.009 N 1.64 0.278 T 0.64 0.024 N 0.067 0.415 -0.978 0.354 T 0.000 0.000 T . . . 2.887 0.408 21.8 0.893 0.181 0.230 0.217 N c -0.537 -0.274 0.368 0.198 0.706 0.609 0 4.7 0.586 1.868 0.389 0.242 0.267 0.999 0.424 0.965 0.450 8.458 0.319 Zinc finger\x2c DHHC-type\x2c palmitoyltransferase ENSG00000053900.6|ENSG00000053900.6|ENSG00000053900.6|ENSG00000053900.6 Adipose_Subcutaneous|Brain_Cerebellum|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.8734 0.9808 0.8364 0.8617 0.7713 0.9200 0.8881 0.8831 0.8318 0.9071 0.9773 0.8496 0.8411 0.7475 0.9125 0.8881 0.8849 hom 3083.12 115 4 25363901 . T A 3083.12 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9323;MQ=58.98;MQ0=0;QD=26.81;VQSLOD=7.1622;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3116,238,0 4 25417109 25417109 T A exonic ANAPC4 synonymous SNV ANAPC4:NM_001286756:exon26:c.T1851A:p.I617I,ANAPC4:NM_013367:exon26:c.T1848A:p.I616I 0.081 0.0053 0.1 0.11 0.067 0.15 0.0729 0.0117 0.0768 0.1035 0.0449 0.0680 0.0703 0.1241 0.049 0.013 0.068 0.065 0.049 rs3214035 COSM5008428 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0711 0.0107 0.0698 0.0702 0.1057 0.0468 0.0654 0.0741 0.1210 0.0493 0.0129 0.0622 0.0762 0.0980 0.0421 0.0647 0.0654 het 695.29 51 4 25417109 . T A 695.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.330;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.84;MQ0=0;MQRankSum=0.670;QD=13.63;ReadPosRankSum=0.009;VQSLOD=5.9738;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,27:51:99:725,0,616 4 25419283 25419283 T C exonic ANAPC4 synonymous SNV ANAPC4:NM_001286756:exon28:c.T2124C:p.F708F,ANAPC4:NM_013367:exon28:c.T2121C:p.F707F 0.5 0.62 0.55 0.31 0.6 0.42 0.5540 0.6169 0.5419 0.3131 0.6775 0.5964 0.5341 0.4289 0.6 0.62 0.59 0.58 0.65 rs9174 COSM149658 1(breast);3(haematopoietic_and_lymphoid_tissue);1(stomach);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5515 0.6163 0.5393 0.6213 0.3099 0.6754 0.5855 0.5735 0.4283 0.5883 0.6266 0.5525 0.6060 0.3155 0.6544 0.5807 0.6022 het 2860.69 235 4 25419283 . T C 2860.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.297;DP=235;DS;Dels=0.00;FS=0.481;HRun=0;HaplotypeScore=5.5040;MQ=59.28;MQ0=0;MQRankSum=-1.165;QD=12.17;ReadPosRankSum=-1.217;VQSLOD=4.6824;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,120:235:99:2891,0,3303 4 25806319 25806319 C T exonic SEL1L3 synonymous SNV SEL1L3:NM_001297592:exon10:c.G1515A:p.K505K,SEL1L3:NM_001297594:exon10:c.G1161A:p.K387K,SEL1L3:NM_015187:exon10:c.G1620A:p.K540K 0.018 0.0015 0.014 0.019 0.032 0.03 0.0246 0.0047 0.0110 0.0249 0.0154 0.0293 0.0201 0.0304 0.023 0.0054 0.03 . . rs34954596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0243 0.0046 0.0125 0.0329 0.0263 0.0137 0.0301 0.0224 0.0303 0.0199 0.0072 0.0143 0.0364 0.0370 0.0143 0.0263 0.0245 het 925.08 67 4 25806319 . C T 925.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.660;DP=67;Dels=0.00;FS=0.942;HRun=2;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;MQRankSum=1.402;QD=13.81;ReadPosRankSum=0.371;VQSLOD=5.4229;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,36:67:99:955,0,706 4 26417136 26417136 T C exonic RBPJ synonymous SNV RBPJ:NM_015874:exon4:c.T195C:p.S65S,RBPJ:NM_203283:exon4:c.T189C:p.S63S,RBPJ:NM_005349:exon5:c.T234C:p.S78S,RBPJ:NM_203284:exon5:c.T192C:p.S64S 0.51 0.33 0.68 0.53 0.56 0.56 0.5620 0.3633 0.7285 0.5498 0.5765 0.5643 0.5881 0.5576 0.5 0.37 0.56 0.46 0.41 rs2270226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5721 0.3624 0.7142 0.5226 0.5453 0.5811 0.5684 0.5862 0.5572 0.5091 0.3611 0.6785 0.5203 0.5381 0.5606 0.5743 0.5358 het 2271.86 189 4 26417136 . T C 2271.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.194;DP=189;Dels=0.00;FS=4.941;HRun=0;HaplotypeScore=4.7861;MQ=58.84;MQ0=0;MQRankSum=-0.768;QD=12.02;ReadPosRankSum=0.569;VQSLOD=4.1235;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:102,86:189:99:2302,0,2666 4 26585881 26585881 C T exonic TBC1D19 synonymous SNV TBC1D19:NM_001292054:exon1:c.C66T:p.S22S,TBC1D19:NM_018317:exon1:c.C66T:p.S22S 0.31 0.17 0.28 0.36 0.39 0.4 0.3917 0.2233 0.3463 0.3664 0.3912 0.4205 0.3850 0.4167 0.34 0.22 0.41 0.25 0.34 rs4692549 COSM3760560 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3677 0.1977 0.3037 0.3923 0.3469 0.3541 0.4079 0.3694 0.3895 0.3391 0.2096 0.3177 0.4272 0.3524 0.3527 0.4079 0.3619 het 501.38 37 4 26585881 . C T 501.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.813;DP=37;Dels=0.00;FS=2.870;HRun=0;HaplotypeScore=1.7262;MQ=58.23;MQ0=0;MQRankSum=1.570;QD=13.55;ReadPosRankSum=-0.747;VQSLOD=5.3754;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,20:37:99:531,0,395 4 27004011 27004011 G A exonic STIM2 synonymous SNV STIM2:NM_001169117:exon6:c.G798A:p.Q266Q,STIM2:NM_001169118:exon6:c.G798A:p.Q266Q,STIM2:NM_020860:exon6:c.G798A:p.Q266Q 0.98 0.94 0.97 1. 0.99 1. 0.9884 0.9372 0.9871 1 0.9959 0.9924 0.9834 0.9967 0.97 0.94 0.99 0.97 0.97 rs10028164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9893 0.9382 0.9872 0.9965 1 0.9968 0.9916 0.9857 0.9970 0.9752 0.9324 0.9868 0.9934 1 0.9954 0.9907 0.9888 hom 2427.81 82 4 27004011 . G A 2427.81 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=29.61;VQSLOD=8.9322;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,81:82:99:2461,184,0 4 36069805 36069805 G A exonic ARAP2 synonymous SNV ARAP2:NM_015230:exon33:c.C4839T:p.A1613A 0.16 0.02 0.21 0.091 0.28 0.24 0.2409 0.0654 0.1626 0.0732 0.1552 0.3057 0.2379 0.2672 0.24 0.071 0.32 0.16 0.31 rs7657166 COSM3760594 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2392 0.0584 0.1678 0.3143 0.0749 0.1510 0.3143 0.2554 0.2649 0.1979 0.0635 0.1990 0.3133 0.0643 0.1576 0.2951 0.2352 het 1963 144 4 36069805 . G A 1963 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.539;DP=144;Dels=0.00;FS=7.635;HRun=0;HaplotypeScore=1.7608;MQ=59.52;MQ0=0;MQRankSum=1.528;QD=13.63;ReadPosRankSum=-0.148;VQSLOD=4.5039;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,75:144:99:1993,0,1818 4 36081878 36081878 C T exonic ARAP2 nonsynonymous SNV ARAP2:NM_015230:exon31:c.G4568A:p.R1523Q 1. 1. 0.99 1. 0.99 1. 0.9922 0.9981 0.9958 1 0.9951 0.9893 0.9912 0.9922 0.99 1. 0.99 0.99 0.99 rs4833069 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.009 0.304 N 1.000 0.195 P -2.2 0.001 N -0.88 0.747 T 1.38 0.009 N 0.036 0.016 -0.926 0.447 T 0.000 0.000 T . . . 0.628 0.154 8.350 0.267 0.013 0.025 0.070 N c -1.416 -1.121 0.017 0.129 0.706 0.609 0 4.53 0.548 2.267 0.427 -0.387 0.064 0.990 0.367 0.950 0.426 11.504 0.495 PH domain-like|Pleckstrin homology domain . . 0.9921 0.9981 0.9958 0.9945 1 0.9956 0.9882 0.9908 0.9920 0.9943 0.9984 0.9940 0.9868 1 0.9937 0.9917 0.9939 hom 2526.02 88 4 36081878 . C T 2526.02 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.35;MQ0=0;QD=28.70;VQSLOD=8.3728;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2559,193,0 4 36152584 36152584 G T exonic ARAP2 synonymous SNV ARAP2:NM_015230:exon16:c.C2835A:p.T945T 0.055 0.086 0.046 . 0.093 0.036 0.0745 0.0881 0.0349 0.0001 0.0540 0.0985 0.0617 0.0445 0.097 0.093 0.099 0.087 0.13 rs13148785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0730 0.0894 0.0414 0.1016 0.0003 0.0511 0.1013 0.0826 0.0422 0.0878 0.0961 0.0561 0.0828 0 0.0513 0.1033 0.0804 het 1858.51 139 4 36152584 . G T 1858.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.673;DP=139;Dels=0.00;FS=2.276;HRun=1;HaplotypeScore=3.8814;MQ=59.52;MQ0=0;MQRankSum=-0.318;QD=13.37;ReadPosRankSum=-0.095;VQSLOD=6.0976;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,72:139:99:1889,0,1749 4 37903756 37903756 T C exonic TBC1D1 nonsynonymous SNV TBC1D1:NM_001253912:exon2:c.T40C:p.S14P,TBC1D1:NM_015173:exon2:c.T40C:p.S14P 0.7 0.88 0.59 0.66 0.61 0.69 0.6248 0.8472 0.5314 0.6424 0.6885 0.5912 0.6220 0.6510 0.68 0.84 0.59 0.69 0.59 rs2279027 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.491 N 1 0.090 P -1.79 0.003 N 2.56 0.137 T 0.85 0.018 N 0.028 0.016 -0.984 0.340 T 0.000 0.000 T . . . -0.738 0.043 0.059 0.082 0.001 0.002 0.011 N c -1.233 -1.073 1.000 0.517 0.707 0.730 0 4.9 0.635 0.247 0.178 0.040 0.155 0.014 0.188 0.388 0.252 10.365 0.430 PH domain-like ENSG00000065882.11 Pancreas 0.6177 0.8475 0.5407 0.5590 0.6474 0.6828 0.5915 0.6242 0.6329 0.6667 0.8400 0.5692 0.59 0.6022 0.6691 0.5812 0.6360 hom 7096.22 223 4 37903756 . T C 7096.22 Mask AC=2;AF=1.00;AN=2;DP=223;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5785;MQ=59.40;MQ0=0;QD=31.82;VQSLOD=8.5096;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:223:99:7095,551,0 4 37962186 37962186 G C exonic PTTG2 nonsynonymous SNV PTTG2:NM_006607:exon1:c.G131C:p.R44P 0.73 0.7 0.7 0.96 0.57 0.72 0.6413 0.7163 0.7785 0.9572 0.5917 0.5625 0.6289 0.6721 0.61 0.7 0.56 0.69 . rs6811863 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -2.265 0.001 N 1.17 0.379 T 5.1 0.000 N 0.046 0.026 -0.934 0.436 T 0.000 0.000 T . . . -0.301 0.068 0.662 0.413 0.030 0.000 0.002 N c -2.230 -2.191 1.000 0.424 0.706 0.609 0 -4.04 0.037 -0.237 0.089 -0.240 0.092 0.183 0.239 0.006 0.095 1.388 0.021 . ENSG00000227325.1|ENSG00000250254.1 Colon_Sigmoid|Colon_Sigmoid 0.6452 0.7142 0.7657 0.6283 0.9564 0.5960 0.5569 0.6203 0.6706 0.6369 0.7089 0.7326 0.6060 0.9641 0.5879 0.5689 0.6002 het 1495.68 96 4 37962186 . G C 1495.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.045;DP=96;Dels=0.00;FS=2.729;HRun=1;HaplotypeScore=2.8413;MQ=59.42;MQ0=0;MQRankSum=0.808;QD=15.58;ReadPosRankSum=1.175;VQSLOD=5.3987;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,51:96:99:1526,0,1170 4 38016395 38016395 T G exonic TBC1D1 nonsynonymous SNV TBC1D1:NM_001253912:exon3:c.T683G:p.V228G,TBC1D1:NM_015173:exon3:c.T683G:p.V228G 0.58 0.64 0.49 0.71 0.43 0.58 0.4825 0.6398 0.4888 0.6994 0.4397 0.4222 0.4728 0.5267 0.48 0.59 0.42 0.48 0.13 rs10501 COSM447822 1(thyroid);2(large_intestine) . . . . . . . . . . . 0.403 0.106 T 0.0 0.026 B 0.0 0.013 B 0.261 0.153 N 1 0.090 P -0.55 0.024 N 3.65 0.171 T 1.09 0.015 N 0.023 0.086 -1.055 0.129 T 0.000 0.000 T . . . -0.684 0.046 0.078 0.223 0.009 0.003 0.016 N c -1.228 -1.197 1.000 0.409 0.732 0.924 0 0.314 0.150 1.408 0.341 -0.376 0.066 0.142 0.233 0.000 0.016 4.072 0.093 PTB/PI domain . . 0.4769 0.6347 0.4766 0.4871 0.6861 0.4393 0.4162 0.4699 0.5228 0.4825 0.6223 0.4833 0.4833 0.6791 0.4346 0.3954 0.4199 het 102.52 25 4 38016395 . T G 102.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.050;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;MQRankSum=-0.286;QD=4.10;ReadPosRankSum=0.095;VQSLOD=5.0418;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,6:25:99:133,0,569 4 38023302 38023302 C G exonic TBC1D1 synonymous SNV TBC1D1:NM_001253912:exon6:c.C1173G:p.P391P,TBC1D1:NM_015173:exon6:c.C1173G:p.P391P 0.19 0.0061 0.17 0.4 0.15 0.26 0.2160 0.0309 0.2604 0.4300 0.1834 0.1998 0.2024 0.2557 0.11 0.028 0.15 0.16 0.066 rs34119528 COSM3760604 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1689 0.0239 0.1882 0.1946 0.3664 0.1312 0.1507 0.1594 0.2045 0.1302 0.0279 0.2029 0.2219 0.3864 0.1351 0.1530 0.1612 het 206.64 22 4 38023302 . C G 206.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.200;DP=22;Dels=0.00;FS=4.246;HRun=0;HaplotypeScore=0.9987;MQ=60.00;MQ0=0;MQRankSum=2.070;QD=9.39;ReadPosRankSum=1.202;VQSLOD=4.7640;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,9:22:99:237,0,394 4 38051499 38051499 A G exonic TBC1D1 synonymous SNV TBC1D1:NM_001253912:exon11:c.A1890G:p.T630T,TBC1D1:NM_015173:exon11:c.A1890G:p.T630T 0.0026 . 0.0043 . 0.0099 . 0.0030 0.0006 0.0037 0 0.0008 0.0046 0.0023 0 0.0038 0.0014 0.005 0.011 0.0082 rs140029744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0008 0.0044 0.0017 0 0.0009 0.0051 0.0039 0 0.0029 0.0019 0.0048 0.0033 0 0.0009 0.0044 0 het 1570.75 109 4 38051499 . A G 1570.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.350;DP=109;Dels=0.00;FS=1.576;HRun=1;HaplotypeScore=2.9656;MQ=59.54;MQ0=0;MQRankSum=-0.303;QD=14.41;ReadPosRankSum=0.070;VQSLOD=4.8014;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,62:109:99:1601,0,1112 4 38829163 38829163 A C exonic TLR6 synonymous SNV TLR6:NM_006068:exon2:c.T1932G:p.A644A 0.09 0.042 0.088 0.0089 0.24 0.08 0.1929 0.0722 0.0732 0.0119 0.3631 0.2607 0.2181 0.1036 0.21 0.081 0.27 0.065 0.23 rs5743818 COSM3760610 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1933 0.0701 0.0764 0.1831 0.0125 0.3564 0.2658 0.1969 0.1049 0.2286 0.0755 0.1217 0.1589 0.0160 0.3625 0.3145 0.2653 het 2259.83 160 4 38829163 . A C 2259.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.197;DP=160;Dels=0.00;FS=0.586;HRun=0;HaplotypeScore=0.9973;MQ=59.62;MQ0=0;MQRankSum=-0.171;QD=14.12;ReadPosRankSum=0.896;VQSLOD=6.6235;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,85:160:99:2290,0,1934 4 38829832 38829832 T C exonic TLR6 synonymous SNV TLR6:NM_006068:exon2:c.A1263G:p.K421K 0.46 0.74 0.32 0.4 0.31 0.39 0.3793 0.6721 0.3190 0.3766 0.4169 0.3417 0.4108 0.3742 0.45 0.66 0.34 0.46 0.33 rs3775073 COSM3760611 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3717 0.6753 0.3231 0.3341 0.3821 0.4114 0.3380 0.3516 0.3767 0.4618 0.6692 0.3663 0.3278 0.3984 0.4135 0.3719 0.3898 het 2507.79 188 4 38829832 . T C 2507.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.457;DP=188;Dels=0.00;FS=2.534;HRun=1;HaplotypeScore=3.9924;MQ=58.93;MQ0=0;MQRankSum=-0.280;QD=13.34;ReadPosRankSum=-0.106;VQSLOD=5.9257;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,94:188:99:2538,0,2351 4 38830012 38830012 G C exonic TLR6 synonymous SNV TLR6:NM_006068:exon2:c.C1083G:p.T361T 0.44 0.69 0.31 0.4 0.31 0.39 0.3766 0.6401 0.3176 0.3774 0.4169 0.3418 0.4104 0.3743 0.44 0.63 0.34 0.43 0.33 rs3821985 COSM3760612 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3693 0.6440 0.3215 0.3337 0.3821 0.4116 0.3377 0.3505 0.3765 0.4546 0.6437 0.3652 0.3278 0.3976 0.4134 0.3724 0.3837 het 928.96 80 4 38830012 . G C 928.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.300;DP=80;Dels=0.00;FS=0.888;HRun=0;HaplotypeScore=1.9459;MQ=59.53;MQ0=0;MQRankSum=-0.454;QD=11.61;ReadPosRankSum=-2.007;VQSLOD=5.6920;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,37:80:99:959,0,1153 4 38830350 38830350 A G exonic TLR6 nonsynonymous SNV TLR6:NM_006068:exon2:c.T745C:p.S249P 0.88 0.98 0.82 1. 0.59 0.98 0.7392 0.9324 0.8705 1 0.5218 0.6161 0.7555 0.9725 0.69 0.92 0.58 0.92 0.51 rs5743810 COSM3760613 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.453 0.089 T 0.0 0.026 B 0.0 0.013 B 0.197 0.167 N 1 0.090 P -1.31 0.007 N 2.49 0.145 T 1.12 0.012 N 0.05 0.031 -1.001 0.296 T 0.000 0.000 T . . . -1.313 0.022 0.004 0.619 0.066 0.013 0.045 N c -1.362 -1.232 0.348 0.196 0.707 0.730 0 3.52 0.393 0.928 0.282 -0.836 0.030 0.015 0.189 0.677 0.304 4.921 0.131 Leucine-rich repeat domain\x2c L domain-like ENSG00000197712.7|ENSG00000174130.8|ENSG00000197712.7|ENSG00000197712.7 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.7278 0.9348 0.8563 0.7041 1 0.5188 0.5962 0.7081 0.9722 0.7116 0.9248 0.8373 0.73 0.9988 0.5183 0.5970 0.6680 het 537.65 36 4 38830350 . A G 537.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.276;DP=36;Dels=0.00;FS=1.258;HRun=1;HaplotypeScore=2.9874;MQ=57.36;MQ0=0;MQRankSum=0.175;QD=14.93;ReadPosRankSum=0.016;VQSLOD=4.6433;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,20:36:99:568,0,429 4 38879949 38879949 G A exonic FAM114A1 nonsynonymous SNV FAM114A1:NM_001350632:exon2:c.G250A:p.G84R,FAM114A1:NM_001350635:exon2:c.G250A:p.G84R,FAM114A1:NM_138389:exon3:c.G250A:p.G84R 0.2 0.32 0.21 0.086 0.25 0.12 0.2480 0.3103 0.2864 0.0842 0.3630 0.2668 0.2638 0.1448 0.29 0.31 0.27 0.13 0.22 rs11096964 COSM3760614 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.123 0.323 T 0.09 0.236 B 0.018 0.173 B 0.002 0.375 N 0.948 0.369 P 0.59 0.155 N 1.73 0.264 T -7.05 0.938 D 0.221 0.271 -0.941 0.425 T 0.000 0.000 T . . . 1.825 0.280 15.13 0.972 0.322 0.611 0.311 D c -0.490 -0.467 0.955 0.281 0.706 0.609 0 1.88 0.245 1.759 0.378 0.998 0.613 0.983 0.354 0.973 0.468 5.853 0.178 . ENSG00000174130.8|ENSG00000197712.7|ENSG00000174130.8 Esophagus_Mucosa|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.2499 0.3116 0.2726 0.2236 0.0873 0.3578 0.2693 0.2483 0.1465 0.3080 0.3154 0.2661 0.2053 0.0914 0.3645 0.3188 0.3010 het 1828.31 154 4 38879949 . G A 1828.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.076;DP=154;Dels=0.00;FS=2.996;HRun=0;HaplotypeScore=6.1896;MQ=59.16;MQ0=0;MQRankSum=0.540;QD=11.87;ReadPosRankSum=-1.754;VQSLOD=4.6071;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:82,71:154:99:1858,0,2243 4 38880046 38880046 T C exonic FAM114A1 nonsynonymous SNV FAM114A1:NM_001350632:exon2:c.T347C:p.L116P,FAM114A1:NM_001350635:exon2:c.T347C:p.L116P,FAM114A1:NM_138389:exon3:c.T347C:p.L116P 0.2 0.32 0.21 0.086 0.25 0.12 0.2547 0.3130 0.2871 0.0851 0.3627 0.2685 0.2775 0.1480 0.28 0.31 0.27 0.14 0.22 rs11555334 COSM3760615 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.94 0.116 T 0.0 0.026 B 0.0 0.013 B 0.570 0.055 N 1.000 0.498 P -0.75 0.017 N 1.94 0.227 T 2.47 0.018 N 0.337 0.398 -0.931 0.440 T 0.000 0.000 T . . . -1.083 0.029 0.011 0.082 0.001 0.001 0.007 N c -1.902 -1.967 1.000 0.747 0.707 0.730 0 -9.46 0.005 -1.885 0.017 -1.522 0.010 0.000 0.063 0.009 0.108 7.574 0.269 . ENSG00000174130.8|ENSG00000197712.7|ENSG00000174130.8 Esophagus_Mucosa|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.2497 0.3124 0.2706 0.2195 0.0878 0.3539 0.2682 0.2528 0.1422 0.3075 0.3147 0.2661 0.2053 0.0915 0.3640 0.3183 0.3024 het 1563.72 123 4 38880046 . T C 1563.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.667;DP=123;Dels=0.00;FS=1.625;HRun=1;HaplotypeScore=4.4037;MQ=59.31;MQ0=0;MQRankSum=0.827;QD=12.71;ReadPosRankSum=0.673;VQSLOD=6.0019;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,68:123:99:1594,0,1435 4 38930921 38930921 A G exonic FAM114A1 synonymous SNV FAM114A1:NM_001350631:exon8:c.A507G:p.L169L,FAM114A1:NM_001350633:exon8:c.A747G:p.L249L,FAM114A1:NM_001350634:exon8:c.A534G:p.L178L,FAM114A1:NM_001330764:exon9:c.A507G:p.L169L,FAM114A1:NM_001350632:exon9:c.A1122G:p.L374L,FAM114A1:NM_138389:exon10:c.A1128G:p.L376L 0.056 0.032 0.068 0.001 0.14 0.047 0.1046 0.0515 0.0458 0.0007 0.1211 0.1462 0.0969 0.0595 0.13 0.058 0.16 0.011 0.11 rs3188469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1032 0.0491 0.0476 0.0778 0.0007 0.1150 0.1544 0.1098 0.0607 0.1131 0.0518 0.0811 0.0728 0.0012 0.1142 0.1624 0.1268 het 1806.60 142 4 38930921 . A G 1806.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.499;DP=142;Dels=0.00;FS=5.137;HRun=0;HaplotypeScore=5.9869;MQ=58.66;MQ0=0;MQRankSum=0.617;QD=12.72;ReadPosRankSum=-0.774;VQSLOD=4.6043;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,74:142:99:1837,0,1626 4 38933859 38933859 G A exonic FAM114A1 nonsynonymous SNV FAM114A1:NM_001350631:exon10:c.G706A:p.V236I,FAM114A1:NM_001350633:exon10:c.G946A:p.V316I,FAM114A1:NM_001350634:exon10:c.G733A:p.V245I,FAM114A1:NM_001330764:exon11:c.G706A:p.V236I,FAM114A1:NM_001350632:exon11:c.G1321A:p.V441I,FAM114A1:NM_138389:exon12:c.G1327A:p.V443I 0.11 0.051 0.2 0.076 0.16 0.11 0.1652 0.0725 0.3448 0.1008 0.1603 0.1662 0.16 0.1270 0.14 0.078 0.18 0.033 0.11 rs17429619 COSM4159057 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.012 0.151 B 0.007 0.121 B 0.002 0.370 N 0.004 0.429 P 0.34 0.105 N 2.14 0.194 T 0.31 0.040 N 0.012 0.012 -0.982 0.347 T 0.000 0.000 T . . . 1.103 0.200 11.23 0.146 0.003 0.866 0.457 D c -0.535 -0.356 0.874 0.255 0.706 0.609 0 4.38 0.519 1.578 0.359 1.048 0.713 0.996 0.391 0.971 0.463 3.702 0.079 . ENSG00000197712.7|ENSG00000197712.7|ENSG00000197712.7 Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.1665 0.0708 0.3136 0.1144 0.0967 0.1531 0.1702 0.1707 0.1196 0.1440 0.0714 0.3005 0.1093 0.1045 0.1537 0.1786 0.1701 het 996.53 75 4 38933859 . G A 996.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.011;DP=75;Dels=0.00;FS=1.972;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.492;QD=13.29;ReadPosRankSum=-1.492;VQSLOD=5.8625;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,40:75:99:1027,0,852 4 38937372 38937372 T C exonic FAM114A1 synonymous SNV FAM114A1:NM_001350631:exon11:c.T876C:p.S292S,FAM114A1:NM_001350633:exon11:c.T1116C:p.S372S,FAM114A1:NM_001350634:exon11:c.T903C:p.S301S,FAM114A1:NM_001330764:exon12:c.T876C:p.S292S,FAM114A1:NM_001350632:exon12:c.T1491C:p.S497S,FAM114A1:NM_138389:exon13:c.T1497C:p.S499S 0.72 0.89 0.69 0.69 0.59 0.7 0.6564 0.8490 0.7483 0.6698 0.5228 0.6018 0.6674 0.7374 0.68 0.84 0.6 0.7 0.61 rs2271031 COSM4003075 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6495 0.8492 0.7329 0.6717 0.6694 0.5211 0.5930 0.6450 0.7405 0.6742 0.8483 0.7225 0.6556 0.6671 0.5163 0.6107 0.6255 het 916.25 86 4 38937372 . T C 916.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.349;DP=86;Dels=0.00;FS=1.840;HRun=1;HaplotypeScore=3.9229;MQ=58.80;MQ0=0;MQRankSum=2.041;QD=10.65;ReadPosRankSum=0.916;VQSLOD=5.5302;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,37:86:99:946,0,1306 4 38987965 38987965 C T exonic TMEM156 nonsynonymous SNV TMEM156:NM_001303228:exon5:c.G814A:p.V272I,TMEM156:NM_024943:exon5:c.G814A:p.V272I 0.015 0.0045 0.022 . 0.048 0.0072 0.0324 0.0101 0.0143 0 0.0265 0.0485 0.0265 0.0137 0.037 0.0079 0.052 0.043 0.025 rs75988651 . . . . . . . . . . . . . 0.042 0.416 D 0.998 0.715 D 0.941 0.659 D 0.007 0.314 N 0.995 0.427 D 0.805 0.203 L 1.69 0.270 T -0.63 0.185 N 0.099 0.101 -1.197 0.002 T 0.025 0.107 T . . . 3.989 0.537 23.6 0.992 0.536 0.802 0.396 D c 0.325 0.240 1.000 0.747 0.714 0.819 0 5.08 0.682 3.315 0.514 0.935 0.490 0.888 0.309 0.242 0.226 14.166 0.649 . ENSG00000163682.11|ENSG00000163682.11 Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.0320 0.0084 0.0153 0.0277 0 0.0281 0.0510 0.0365 0.0143 0.0321 0.0088 0.0191 0.0099 0 0.0246 0.0513 0.0438 het 715.17 56 4 38987965 . C T 715.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.436;DP=56;Dels=0.00;FS=2.258;HRun=0;HaplotypeScore=3.5213;MQ=58.58;MQ0=0;MQRankSum=-0.290;QD=12.77;ReadPosRankSum=0.025;VQSLOD=5.5760;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,32:56:99:745,0,680 4 38995374 38995374 T C exonic TMEM156 synonymous SNV TMEM156:NM_001303228:exon3:c.A603G:p.L201L,TMEM156:NM_024943:exon3:c.A603G:p.L201L 0.93 0.99 0.91 0.95 0.84 0.91 0.8753 0.9750 0.9389 0.9563 0.7806 0.8405 0.8598 0.9049 0.89 0.97 0.84 0.94 0.79 rs10212770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8730 0.9773 0.9356 0.8039 0.9533 0.7829 0.8418 0.8660 0.9093 0.8801 0.9722 0.9296 0.7980 0.9512 0.7821 0.8437 0.8327 hom 3587.89 109 4 38995374 . T C 3587.89 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9321;MQ=58.91;MQ0=0;QD=32.92;VQSLOD=9.6254;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3588,274,0 4 39000305 39000305 A G exonic TMEM156 nonsynonymous SNV TMEM156:NM_001303228:exon2:c.T313C:p.S105P,TMEM156:NM_024943:exon2:c.T313C:p.S105P 0.28 0.11 0.25 0.42 0.28 0.36 0.2914 0.1511 0.2375 0.4839 0.2356 0.2883 0.2796 0.3481 0.23 0.14 0.28 0.22 0.27 rs11542133 COSM4419183 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.057 0.379 T 0.04 0.198 B 0.043 0.229 B 0.000 0.491 N 0.155 0.351 P 1.79 0.469 L 1.18 0.377 T -3.61 0.694 D 0.152 0.181 -0.964 0.385 T 0.000 0.000 T . . . 2.638 0.378 20.4 0.992 0.555 0.842 0.429 D c -0.204 -0.119 0.001 0.075 0.707 0.730 0 3.54 0.395 2.214 0.423 1.199 0.960 0.992 0.373 0.121 0.196 6.195 0.196 . . . 0.2723 0.1383 0.2172 0.3252 0.4730 0.2277 0.2645 0.2673 0.3320 0.2298 0.1404 0.2464 0.3146 0.4541 0.2222 0.2559 0.2439 het 335.25 43 4 39000305 . A G 335.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.664;DP=43;Dels=0.00;FS=5.089;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.056;QD=7.80;ReadPosRankSum=-0.112;VQSLOD=4.8829;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,17:43:99:365,0,702 4 39064162 39064162 A C exonic KLHL5 nonsynonymous SNV KLHL5:NM_015990:exon1:c.A28C:p.I10L,KLHL5:NM_199039:exon1:c.A28C:p.I10L 0.74 0.61 0.79 0.83 0.75 0.77 0.7502 0.6431 0.7862 0.8352 0.7669 0.7471 0.7627 0.7529 0.71 0.65 0.75 0.67 0.75 rs2711941 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.180 0.171 N 1.000 0.588 P 0 0.065 N -0.41 0.708 T 0.02 0.072 N 0.029 0.019 -0.940 0.427 T 0.000 0.000 T . . . 0.905 0.180 10.11 0.701 0.089 0.287 0.234 N c -0.759 -0.537 1.000 0.517 0.693 0.562 0 3.13 0.349 1.121 0.307 -1.045 0.020 1.000 0.715 0.880 0.369 4.554 0.114 . ENSG00000109790.12|ENSG00000249207.1|ENSG00000109790.12|ENSG00000249207.1|ENSG00000109790.12|ENSG00000109790.12|ENSG00000249685.1|ENSG00000157796.13 Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.7527 0.6400 0.7809 0.7893 0.8318 0.7630 0.7435 0.7538 0.7475 0.7398 0.6523 0.7554 0.7715 0.8383 0.7749 0.7678 0.7755 het 2107.99 156 4 39064162 . A C 2107.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.388;DP=156;Dels=0.00;FS=6.659;HRun=0;HaplotypeScore=2.9895;MQ=59.04;MQ0=0;MQRankSum=1.039;QD=13.51;ReadPosRankSum=0.656;VQSLOD=5.1426;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,79:156:99:2138,0,1871 4 39116911 39116911 T C exonic KLHL5 synonymous SNV KLHL5:NM_199039:exon9:c.T1989C:p.T663T,KLHL5:NM_001171654:exon10:c.T1611C:p.T537T,KLHL5:NM_015990:exon10:c.T2172C:p.T724T,KLHL5:NM_001007075:exon11:c.T2034C:p.T678T 0.49 0.34 0.6 0.49 0.58 0.53 0.5592 0.3901 0.6471 0.5042 0.5812 0.5848 0.5826 0.5196 0.52 0.39 0.59 0.56 0.63 rs3733276 COSM3760616;COSM3760618;COSM3760617 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5640 0.3899 0.6470 0.4982 0.4924 0.5767 0.5912 0.5667 0.5134 0.5325 0.3869 0.6193 0.48 0.4844 0.5901 0.6016 0.5885 het 579.58 54 4 39116911 . T C 579.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.315;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9973;MQ=59.14;MQ0=0;MQRankSum=-0.634;QD=10.73;ReadPosRankSum=-0.170;VQSLOD=6.5533;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,24:54:99:610,0,799 4 39207318 39207318 A G exonic WDR19 synonymous SNV WDR19:NM_001317924:exon8:c.A372G:p.S124S,WDR19:NM_025132:exon9:c.A852G:p.S284S 0.12 0.0053 0.15 0.15 0.16 0.2 0.1864 0.0280 0.2220 0.1746 0.1946 0.1882 0.1748 0.2547 0.11 0.025 0.15 0.11 . rs17584431 COSM4003077 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Jeune_thoracic_dystrophy|Cranioectodermal_dysplasia RCV000252308.1|RCV000263260.1|RCV000357935.1 MedGen|MedGen:SNOMED_CT|MedGen:SNOMED_CT CN169374|C0265275:75049004|CN119432:254093009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1585 0.0226 0.1700 0.1228 0.1462 0.1738 0.1554 0.1440 0.2345 0.1163 0.0293 0.1790 0.1325 0.1302 0.1628 0.1490 0.1426 het 455.93 32 4 39207318 . A G 455.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.381;QD=14.25;ReadPosRankSum=-0.153;VQSLOD=11.9498;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,19:32:99:486,0,299 4 39216221 39216221 C T exonic WDR19 synonymous SNV WDR19:NM_001317924:exon9:c.C411T:p.C137C,WDR19:NM_025132:exon10:c.C891T:p.C297C 0.26 0.3 0.24 0.16 0.32 0.26 0.2935 0.3031 0.2427 0.1596 0.2919 0.3172 0.2905 0.2986 0.3 0.29 0.31 0.24 . rs2167494 . . Benign|Benign|Benign not_specified|Jeune_thoracic_dystrophy|Cranioectodermal_dysplasia RCV000242684.1|RCV000299540.1|RCV000354362.1 MedGen|MedGen:SNOMED_CT|MedGen:SNOMED_CT CN169374|C0265275:75049004|CN119432:254093009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2866 0.2938 0.2366 0.2915 0.1580 0.2963 0.3125 0.2870 0.2981 0.2887 0.3029 0.2854 0.3013 0.1473 0.2817 0.2966 0.2977 het 506.25 39 4 39216221 . C T 506.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.789;DP=39;Dels=0.00;FS=1.495;HRun=0;HaplotypeScore=1.5983;MQ=60.00;MQ0=0;MQRankSum=-1.338;QD=12.98;ReadPosRankSum=1.254;VQSLOD=5.5979;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,21:39:99:536,0,493 4 39302029 39302029 T C exonic RFC1 synonymous SNV RFC1:NM_001204747:exon20:c.A2544G:p.P848P,RFC1:NM_002913:exon20:c.A2541G:p.P847P 0.47 0.055 0.61 0.63 0.55 0.66 0.5511 0.1362 0.6630 0.6623 0.5593 0.5665 0.5657 0.6069 0.42 0.15 0.57 0.42 0.57 rs2066786 COSM3760619 1(bone);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5595 0.1283 0.6605 0.5328 0.6560 0.5505 0.5677 0.5612 0.5946 0.4539 0.1328 0.6139 0.56 0.6638 0.5629 0.5747 0.5541 het 1148.17 88 4 39302029 . T C 1148.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.825;DP=88;Dels=0.00;FS=0.869;HRun=0;HaplotypeScore=2.9104;MQ=58.76;MQ0=0;MQRankSum=-0.214;QD=13.05;ReadPosRankSum=-0.582;VQSLOD=6.3039;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,48:88:99:1178,0,1097 4 39448542 39448542 C G exonic KLB synonymous SNV KLB:NM_175737:exon4:c.C2196G:p.P732P 0.77 0.72 0.85 0.72 0.75 0.83 0.7650 0.7229 0.8275 0.7289 0.7008 0.7630 0.7606 0.7977 0.75 0.72 0.77 0.66 0.68 rs7685429 COSM3760621 1(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7680 0.7185 0.8277 0.7415 0.7330 0.7049 0.7667 0.7681 0.7945 0.7326 0.7150 0.8194 0.7483 0.7645 0.6990 0.7419 0.7346 het 1072.08 92 4 39448542 . C G 1072.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.500;DP=92;Dels=0.00;FS=1.839;HRun=0;HaplotypeScore=0.5784;MQ=59.55;MQ0=0;MQRankSum=-0.333;QD=11.65;ReadPosRankSum=0.137;VQSLOD=6.0580;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,42:92:99:1102,0,1412 4 39450229 39450229 C A exonic KLB nonsynonymous SNV KLB:NM_175737:exon5:c.C3058A:p.Q1020K 0.33 0.12 0.4 0.38 0.32 0.51 0.3430 0.1445 0.4546 0.3925 0.3746 0.3220 0.3370 0.4361 0.27 0.16 0.32 0.24 0.28 rs4975017 . . . . . . . . . . . . . 1.0 0.010 T 0.049 0.208 B 0.01 0.139 B 0.761 0.096 N 1 0.090 P 0.95 0.239 L 1.81 0.252 T 0.26 0.044 N 0.055 0.037 -0.916 0.461 T 0.000 0.000 T . . . -1.147 0.027 0.008 0.118 0.002 0.350 0.250 N c -0.915 -0.782 1.000 0.747 0.498 0.195 0 2.81 0.318 1.296 0.328 0.892 0.403 0.931 0.321 0.152 0.205 5.233 0.147 . ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000134962.6|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000121897.9|ENSG00000163682.11|ENSG00000224097.5|ENSG00000163682.11|ENSG00000163682.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.3504 0.1406 0.4570 0.2263 0.3895 0.3690 0.3271 0.3155 0.4334 0.2881 0.1499 0.4217 0.2649 0.4135 0.3742 0.3244 0.3446 het 1368.09 112 4 39450229 . C A 1368.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.599;DP=112;Dels=0.00;FS=4.793;HRun=1;HaplotypeScore=1.7845;MQ=59.61;MQ0=0;MQRankSum=-0.402;QD=12.22;ReadPosRankSum=1.083;VQSLOD=5.9568;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1398,0,1611 4 39458051 39458051 A G exonic RPL9 synonymous SNV RPL9:NM_000661:exon5:c.T366C:p.Y122Y,RPL9:NM_001024921:exon5:c.T366C:p.Y122Y 0.69 0.53 0.81 0.72 0.68 0.82 0.7029 0.5461 0.7985 0.7257 0.6487 0.6930 0.7108 0.7817 0.65 0.55 0.7 0.56 0.65 rs2125313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7086 0.5407 0.7944 0.6960 0.7313 0.6503 0.6959 0.7029 0.7788 0.6469 0.5534 0.7888 0.7185 0.7640 0.6499 0.6766 0.6786 het 546.57 37 4 39458051 . A G 546.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.847;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=51.94;MQ0=0;MQRankSum=-1.575;QD=14.77;ReadPosRankSum=0.111;VQSLOD=4.2272;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,24:37:99:577,0,361 4 39510264 39510264 A G exonic UGDH synonymous SNV UGDH:NM_001184700:exon6:c.T627C:p.C209C,UGDH:NM_001184701:exon6:c.T537C:p.C179C,UGDH:NM_003359:exon7:c.T828C:p.C276C 0.3 0.52 0.17 0.41 0.1 0.17 0.1721 0.4713 0.1908 0.3980 0.0953 0.1068 0.1540 0.1496 0.22 0.46 0.099 0.32 0.09 rs1129052 COSM4415346 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1564 0.4597 0.1685 0.1574 0.3806 0.0936 0.0992 0.1592 0.1397 0.2203 0.4542 0.1635 0.1589 0.3914 0.0999 0.1036 0.1486 het 324 35 4 39510264 . A G 324 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.187;DP=35;Dels=0.00;FS=1.735;HRun=0;HaplotypeScore=4.5747;MQ=56.96;MQ0=0;MQRankSum=0.565;QD=9.26;ReadPosRankSum=-0.783;VQSLOD=4.0213;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,14:35:99:354,0,508 4 39515736 39515736 A G exonic UGDH synonymous SNV UGDH:NM_001184700:exon3:c.T231C:p.D77D,UGDH:NM_003359:exon3:c.T231C:p.D77D 0.29 0.48 0.16 0.41 0.1 0.17 0.1689 0.4400 0.1887 0.3986 0.0951 0.1061 0.1523 0.1512 0.21 0.43 0.099 0.32 0.082 rs10019532 COSM4415021 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1625 0.4400 0.1802 0.1609 0.4011 0.0938 0.1019 0.1650 0.1507 0.2130 0.4268 0.1611 0.1567 0.3978 0.0999 0.1039 0.1462 het 1310.29 119 4 39515736 . A G 1310.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.799;DP=119;Dels=0.00;FS=0.694;HRun=0;HaplotypeScore=0.9469;MQ=55.91;MQ0=0;MQRankSum=-1.717;QD=11.01;ReadPosRankSum=0.221;VQSLOD=2.6611;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,60:119:99:1340,0,1433 4 39921942 39921942 A G exonic PDS5A synonymous SNV PDS5A:NM_001100399:exon7:c.T732C:p.A244A,PDS5A:NM_001100400:exon7:c.T732C:p.A244A 0.4 0.14 0.29 0.66 0.41 0.53 0.4186 0.1732 0.3088 0.6717 0.4078 0.4097 0.4239 0.5479 0.34 0.17 0.41 0.36 . rs28449663 COSM1485953;COSM447842 1(breast);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4100 0.1629 0.2961 0.3941 0.6585 0.4207 0.4053 0.3951 0.5433 0.3482 0.1719 0.3230 0.4073 0.6363 0.4154 0.4016 0.3926 hom 1558.22 55 4 39921942 . A G 1558.22 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7880;MQ=59.12;MQ0=0;QD=28.33;VQSLOD=7.6465;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1591,117,0 4 40121562 40121562 G A exonic N4BP2 nonsynonymous SNV N4BP2:NM_018177:exon9:c.G1831A:p.D611N,N4BP2:NM_001318359:exon10:c.G1591A:p.D531N 0.82 0.68 0.85 0.97 0.76 0.93 0.8107 0.6896 0.9002 0.9661 0.7861 0.7723 0.8079 0.9319 0.75 0.69 0.77 0.74 0.6 rs794001 COSM447847 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.265 0.152 N 1 0.090 P -2.125 0.001 N 2.32 0.166 T 1.01 0.014 N 0.01 0.028 -1.018 0.244 T 0.000 0.000 T . . . 0.613 0.152 8.244 0.288 0.015 0.002 0.013 N c -0.828 -0.747 0.657 0.222 0.554 0.283 0 0.469 0.159 0.913 0.280 0.244 0.267 0.255 0.247 0.842 0.351 2.233 0.037 . . . 0.8098 0.6831 0.8850 0.7739 0.9665 0.7934 0.7674 0.7962 0.9282 0.7668 0.6810 0.8687 0.7649 0.9672 0.8057 0.7794 0.7837 hom 2782.12 95 4 40121562 . G A 2782.12 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=29.29;VQSLOD=8.9888;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2815,214,0 4 40337523 40337523 C T exonic CHRNA9 synonymous SNV CHRNA9:NM_017581:exon1:c.C39T:p.I13I 0.22 0.3 0.25 0.05 0.27 0.2 0.2425 0.2862 0.1927 0.0502 0.2514 0.2844 0.2610 0.1763 0.3 0.29 0.3 0.22 0.36 rs56241474 COSM1178492 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2419 0.2919 0.1972 0.2161 0.0508 0.2502 0.2960 0.2564 0.1760 0.2758 0.2929 0.1897 0.2351 0.0610 0.2510 0.3014 0.2627 het 1025.48 96 4 40337523 . C T 1025.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.180;DP=96;Dels=0.00;FS=0.754;HRun=1;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;MQRankSum=-0.092;QD=10.68;ReadPosRankSum=1.636;VQSLOD=5.4325;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,44:96:99:1055,0,1446 4 40337908 40337908 T C exonic CHRNA9 synonymous SNV CHRNA9:NM_017581:exon2:c.T129C:p.S43S 0.64 0.93 0.64 0.4 0.53 0.62 0.5767 0.8758 0.6510 0.4027 0.5553 0.5435 0.5650 0.5708 0.65 0.87 0.55 0.76 0.66 rs10022491 COSM4003078 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5743 0.8809 0.6385 0.5010 0.4105 0.5606 0.5493 0.5716 0.5680 0.6491 0.8787 0.6220 0.5497 0.4148 0.5645 0.5671 0.5978 het 1650.53 105 4 40337908 . T C 1650.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.060;DP=105;Dels=0.00;FS=20.626;HRun=1;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;MQRankSum=0.899;QD=15.72;ReadPosRankSum=-1.092;VQSLOD=2.6995;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,58:105:99:1681,0,1344 4 40337944 40337944 C T exonic CHRNA9 synonymous SNV CHRNA9:NM_017581:exon2:c.C165T:p.V55V 0.11 0.011 0.18 0.05 0.22 0.17 0.1861 0.0436 0.1625 0.0493 0.2371 0.2356 0.2004 0.1430 0.18 0.05 0.25 0.12 0.25 rs56159866 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1887 0.0389 0.1643 0.1446 0.0497 0.2345 0.2452 0.1991 0.1426 0.1787 0.0458 0.1492 0.1623 0.0600 0.2364 0.2549 0.2163 het 1695.82 142 4 40337944 . C T 1695.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.101;DP=142;Dels=0.00;FS=8.956;HRun=1;HaplotypeScore=6.4584;MQ=59.02;MQ0=0;MQRankSum=1.405;QD=11.94;ReadPosRankSum=0.245;VQSLOD=4.1254;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,69:142:99:1726,0,1901 4 40356422 40356422 A G exonic CHRNA9 nonsynonymous SNV CHRNA9:NM_017581:exon5:c.A1325G:p.N442S 0.74 0.64 0.68 0.85 0.78 0.79 0.7837 0.6728 0.6422 0.8672 0.7985 0.8099 0.8194 0.7954 0.76 0.67 0.81 0.62 0.81 rs10009228 . . . . . . . . . . . . . 0.479 0.082 T 0.0 0.026 B 0.003 0.080 B 0.675 0.061 N 1 0.090 P 0.88 0.216 L -1.63 0.825 D 0.16 0.052 N 0.027 0.009 -0.955 0.401 T 0.000 0.000 T . . . -0.310 0.068 0.630 0.900 0.187 0.111 0.162 N c -0.777 -0.651 0.017 0.129 0.516 0.203 0 3.09 0.345 1.329 0.332 1.199 0.960 0.001 0.137 0.825 0.345 7.016 0.239 Neurotransmitter-gated ion-channel transmembrane domain|Nicotinic acetylcholine-gated receptor\x2c transmembrane domain . . 0.7802 0.6717 0.6461 0.7899 0.8674 0.7952 0.8141 0.7760 0.7952 0.7714 0.6694 0.6504 0.7980 0.8864 0.7952 0.8180 0.7882 hom 4107.37 119 4 40356422 . A G 4107.37 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8273;MQ=59.50;MQ0=0;QD=34.52;VQSLOD=9.7231;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:4107,322,0 4 40428010 40428010 T C exonic RBM47 nonsynonymous SNV RBM47:NM_019027:exon5:c.A1486G:p.M496V,RBM47:NM_001098634:exon7:c.A1693G:p.M565V 0.69 0.67 0.78 0.58 0.78 0.68 0.7450 0.6926 0.8125 0.5823 0.7765 0.7727 0.7456 0.6912 0.74 0.7 0.76 0.67 0.78 rs278981 COSM3723324;COSM3723325;COSM3723326 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.353 0.133 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P -0.55 0.024 N 2.68 0.125 T 0.19 0.050 N 0.047 0.028 -0.919 0.457 T 0.000 0.000 T . . . -0.936 0.034 0.022 0.498 0.042 0.030 0.077 N c -1.016 -0.861 0.998 0.370 0.719 0.830 0 3.82 0.430 2.532 0.451 -0.054 0.122 0.951 0.329 0.760 0.324 10.683 0.448 . ENSG00000250893.1 Testis 0.7494 0.6931 0.8158 0.8158 0.5877 0.7675 0.7681 0.7646 0.6910 0.7328 0.6872 0.7955 0.8079 0.5689 0.7616 0.7635 0.7607 het 1684.72 143 4 40428010 . T C 1684.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.270;DP=143;Dels=0.00;FS=7.775;HRun=0;HaplotypeScore=3.4529;MQ=59.08;MQ0=0;MQRankSum=1.305;QD=11.78;ReadPosRankSum=-0.955;VQSLOD=4.7606;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,73:143:99:1715,0,1735 4 40438576 40438576 A G exonic RBM47 synonymous SNV RBM47:NM_001098634:exon5:c.T1212C:p.G404G 0.81 0.71 0.85 0.77 0.87 0.88 0.8534 0.7405 0.8465 0.8124 0.7927 0.8740 0.8367 0.8886 0.84 0.74 0.88 0.79 0.91 rs2307046 COSM4159064 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8555 0.7385 0.8532 0.9019 0.8064 0.7885 0.8798 0.8551 0.8891 0.8208 0.7372 0.8437 0.8808 0.8106 0.7888 0.8749 0.8296 het 2934.38 250 4 40438576 . A G 2934.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.762;DP=250;DS;Dels=0.00;FS=4.403;HRun=1;HaplotypeScore=4.5595;MQ=59.11;MQ0=0;MQRankSum=-0.496;QD=11.74;ReadPosRankSum=1.472;VQSLOD=4.8935;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:137,113:250:99:2964,0,3420 4 40440215 40440215 T C exonic RBM47 synonymous SNV RBM47:NM_019027:exon3:c.A696G:p.E232E,RBM47:NM_001098634:exon4:c.A696G:p.E232E 0.7 0.45 0.78 0.73 0.81 0.84 0.7875 0.5263 0.8079 0.7609 0.7638 0.8191 0.7753 0.8338 0.72 0.53 0.82 0.63 0.8 rs2291580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7943 0.5230 0.8129 0.8421 0.7561 0.7601 0.8229 0.7876 0.8330 0.7242 0.5235 0.8031 0.8233 0.7556 0.7602 0.8191 0.7812 het 2498.28 204 4 40440215 . T C 2498.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.705;DP=204;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5272;MQ=58.91;MQ0=0;MQRankSum=-0.110;QD=12.25;ReadPosRankSum=-0.639;VQSLOD=4.7221;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,89:204:99:2528,0,3147 4 40778146 40778146 C T exonic NSUN7 synonymous SNV NSUN7:NM_001330648:exon7:c.C906T:p.G302G,NSUN7:NM_024677:exon7:c.C906T:p.G302G 0.73 0.87 0.88 0.52 0.77 0.6 0.7671 0.8676 0.8505 0.5142 0.7827 0.8030 0.7699 0.6260 0.82 0.87 0.8 0.74 0.76 rs2465570 COSM4415790;COSM149666 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7721 0.8678 0.8512 0.8650 0.5087 0.7861 0.8027 0.7935 0.6298 0.8049 0.8677 0.8604 0.8411 0.5205 0.7994 0.7965 0.8029 het 1170.21 124 4 40778146 . C T 1170.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.884;DP=124;Dels=0.00;FS=3.375;HRun=1;HaplotypeScore=0.8321;MQ=59.02;MQ0=0;MQRankSum=-1.166;QD=9.44;ReadPosRankSum=-0.857;VQSLOD=5.2948;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,51:124:99:1200,0,2060 4 40778162 40778162 T G exonic NSUN7 nonsynonymous SNV NSUN7:NM_001330648:exon7:c.T922G:p.S308A,NSUN7:NM_024677:exon7:c.T922G:p.S308A 0.73 0.87 0.88 0.52 0.77 0.6 0.7673 0.8676 0.8507 0.5148 0.7827 0.8032 0.7732 0.6263 0.82 0.87 0.8 0.74 0.75 rs2437323 COSM4778153;COSM149667 1(stomach);2(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.1 0.002 N 3.1 0.083 T 1.08 0.013 N 0.092 0.144 -0.970 0.372 T 0.000 0.000 T . . . 0.737 0.164 9.070 0.324 0.019 0.050 0.106 N c -0.782 -0.446 0.359 0.198 0.615 0.372 0 5.61 0.853 5.538 0.667 0.136 0.221 1.000 0.715 0.990 0.544 15.791 0.780 S-adenosyl-L-methionine-dependent methyltransferase|SAM-dependent methyltransferase RsmB/NOP2-type ENSG00000179299.12|ENSG00000248780.1|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000248780.1|ENSG00000179299.12|ENSG00000248780.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.7722 0.8678 0.8516 0.8649 0.5092 0.7860 0.8027 0.7936 0.6314 0.8046 0.8678 0.8604 0.8411 0.5199 0.7989 0.7961 0.8006 het 1276.76 131 4 40778162 . T G 1276.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.445;DP=131;Dels=0.00;FS=0.661;HRun=0;HaplotypeScore=7.1586;MQ=58.82;MQ0=0;MQRankSum=0.072;QD=9.75;ReadPosRankSum=-0.996;VQSLOD=4.5469;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,55:131:99:1307,0,2057 4 40947002 40947002 A G exonic APBB2 synonymous SNV APBB2:NM_001330658:exon6:c.T921C:p.Y307Y,APBB2:NM_001166050:exon7:c.T921C:p.Y307Y,APBB2:NM_001330656:exon7:c.T921C:p.Y307Y,APBB2:NM_004307:exon7:c.T924C:p.Y308Y,APBB2:NM_173075:exon7:c.T921C:p.Y307Y . . . . . . 6.624e-05 0 0 0.0002 0 8.99e-05 0 0 0.0004 . 0.0006 . . rs369914905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.499e-05 0 0 0 0.0002 0 0.0001 0 0 9.708e-05 0 0 0 0 0 0.0001 0.0010 het 2438.64 181 4 40947002 . A G 2438.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.334;DP=181;Dels=0.00;FS=0.583;HRun=0;HaplotypeScore=2.6113;MQ=59.10;MQ0=0;MQRankSum=2.646;QD=13.47;ReadPosRankSum=-0.050;VQSLOD=3.9281;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,91:181:99:2469,0,2429 4 41015823 41015823 G A exonic APBB2 synonymous SNV APBB2:NM_001330658:exon5:c.C612T:p.G204G,APBB2:NM_001166050:exon6:c.C612T:p.G204G,APBB2:NM_001330656:exon6:c.C612T:p.G204G,APBB2:NM_004307:exon6:c.C612T:p.G204G,APBB2:NM_173075:exon6:c.C612T:p.G204G 0.31 0.048 0.29 0.54 0.31 0.43 0.3284 0.0815 0.3345 0.5462 0.4115 0.3133 0.3367 0.3841 0.19 0.069 0.24 0.26 0.22 rs2292234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3314 0.0758 0.3300 0.2381 0.5521 0.4013 0.3142 0.3076 0.3817 0.2754 0.0879 0.3050 0.2583 0.5347 0.3991 0.3221 0.3447 het 3141.50 250 4 41015823 . G A 3141.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.118;DP=250;DS;Dels=0.00;FS=0.491;HRun=0;HaplotypeScore=3.6311;MQ=59.22;MQ0=0;MQRankSum=0.202;QD=12.57;ReadPosRankSum=-0.478;VQSLOD=5.6790;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:137,113:250:99:3171,0,3921 4 41015899 41015899 C T exonic APBB2 nonsynonymous SNV APBB2:NM_001330658:exon5:c.G536A:p.R179Q,APBB2:NM_001166050:exon6:c.G536A:p.R179Q,APBB2:NM_001330656:exon6:c.G536A:p.R179Q,APBB2:NM_004307:exon6:c.G536A:p.R179Q,APBB2:NM_173075:exon6:c.G536A:p.R179Q 0.67 0.32 0.73 0.9 0.75 0.8 0.7487 0.3679 0.7839 0.8920 0.7824 0.7663 0.7356 0.7910 0.65 0.4 0.77 0.61 0.66 rs4861358 . . . . . . . . . . . . . 0.381 0.112 T 0.002 0.126 B 0.0 0.013 B 0.390 0.045 N 1 0.090 P 0 0.065 N 1.96 0.223 T 0.22 0.060 N 0.031 0.299 -1.023 0.227 T 0.000 0.000 T . . . -1.448 0.018 0.003 0.492 0.041 0.115 0.165 N c -1.806 -1.772 1.000 0.747 0.744 0.983 0 -2.0 0.070 0.583 0.234 -0.655 0.041 0.000 0.063 0.000 0.016 2.854 0.052 . . . 0.7512 0.3574 0.7754 0.7127 0.8982 0.7709 0.7645 0.7409 0.7897 0.6635 0.3690 0.7548 0.7285 0.8784 0.7721 0.7738 0.7551 hom 7567.68 219 4 41015899 . C T 7567.68 Mask AC=2;AF=1.00;AN=2;DP=219;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2161;MQ=59.68;MQ0=0;QD=34.56;VQSLOD=8.3200;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,219:219:99:7567,611,0 4 41673604 41673604 T C exonic LIMCH1 nonsynonymous SNV LIMCH1:NM_001112720:exon11:c.T1778C:p.M593T,LIMCH1:NM_001330674:exon11:c.T1778C:p.M593T,LIMCH1:NM_001112719:exon12:c.T1814C:p.M605T,LIMCH1:NM_001330793:exon12:c.T1814C:p.M605T,LIMCH1:NM_001330982:exon12:c.T1814C:p.M605T,LIMCH1:NM_001330983:exon12:c.T1814C:p.M605T,LIMCH1:NM_001330786:exon14:c.T1799C:p.M600T,LIMCH1:NM_001330791:exon16:c.T2240C:p.M747T,LIMCH1:NM_001330792:exon16:c.T2240C:p.M747T,LIMCH1:NM_001112717:exon17:c.T2276C:p.M759T,LIMCH1:NM_001112718:exon17:c.T2276C:p.M759T,LIMCH1:NM_001289122:exon17:c.T2315C:p.M772T,LIMCH1:NM_001289124:exon17:c.T1838C:p.M613T,LIMCH1:NM_001330787:exon17:c.T2276C:p.M759T,LIMCH1:NM_001330788:exon17:c.T2276C:p.M759T,LIMCH1:NM_001330789:exon17:c.T2276C:p.M759T,LIMCH1:NM_001330790:exon17:c.T2276C:p.M759T,LIMCH1:NM_014988:exon17:c.T2276C:p.M759T,LIMCH1:NM_001330672:exon22:c.T3431C:p.M1144T 0.49 0.69 0.48 0.14 0.57 0.49 0.5046 0.6630 0.3994 0.1447 0.5417 0.5408 0.5166 0.5042 0.58 0.66 0.54 0.51 0.51 rs11734372 COSM5419975;COSM5419977;COSM5419978;COSM5419976 1(pancreas) . . . . . . . . . . . 0.956 0.111 T 0.0 0.067 B 0.0 0.063 B 0.145 0.181 N 1 0.208 P -1.245 0.008 N 1.18 0.377 T 1.29 0.024 N 0.278 0.336 -0.997 0.306 T 0.000 0.000 T . . . -1.048 0.030 0.013 0.179 0.005 0.001 0.006 N c -0.835 -0.852 0.006 0.110 0.660 0.495 0 2.76 0.314 0.829 0.269 -0.396 0.063 0.102 0.226 0.002 0.062 9.643 0.388 . . . 0.4994 0.6655 0.4072 0.5930 0.1398 0.5424 0.5410 0.5169 0.5036 0.5560 0.6651 0.4308 0.5497 0.1228 0.5546 0.5510 0.4938 hom 2637.56 92 4 41673604 . T C 2637.56 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2408;MQ=59.29;MQ0=0;QD=28.67;VQSLOD=8.5871;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2671,214,0 4 41984118 41984118 C T exonic DCAF4L1 synonymous SNV DCAF4L1:NM_001029955:exon1:c.C309T:p.S103S 0.66 0.15 0.8 0.96 0.78 0.82 0.7564 0.2352 0.8399 0.9685 0.8163 0.7761 0.7919 0.8091 0.6 0.25 0.78 0.56 0.72 rs2660320 COSM4159076 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7687 0.2285 0.8277 0.7085 0.9690 0.8178 0.7792 0.7684 0.8060 0.6396 0.2427 0.7775 0.7053 0.9628 0.8162 0.7782 0.7520 het 1841.74 162 4 41984118 . C T 1841.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.496;DP=162;Dels=0.00;FS=3.921;HRun=0;HaplotypeScore=1.6643;MQ=59.25;MQ0=0;MQRankSum=1.993;QD=11.37;ReadPosRankSum=0.066;VQSLOD=5.9714;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,71:162:99:1872,0,2448 4 41992677 41992677 C G exonic SLC30A9 synonymous SNV SLC30A9:NM_006345:exon1:c.C9G:p.P3P 0.71 0.25 0.84 0.96 0.82 0.86 0.7980 0.3260 0.8569 0.9678 0.8188 0.8146 0.8194 0.8609 0.65 0.33 0.82 0.6 0.59 rs2581434 COSM4159077 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8102 0.3123 0.8540 0.7975 0.9697 0.8264 0.8220 0.8089 0.8627 0.6860 0.3297 0.8067 0.8079 0.9642 0.8261 0.8147 0.7878 het 292.76 45 4 41992677 . C G 292.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.066;DP=45;Dels=0.00;FS=2.888;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.919;QD=6.51;ReadPosRankSum=-0.184;VQSLOD=4.1494;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,14:45:99:323,0,736 4 42003671 42003671 A G exonic SLC30A9 nonsynonymous SNV SLC30A9:NM_006345:exon2:c.A148G:p.M50V 0.63 0.11 0.77 0.95 0.76 0.78 0.7370 0.2003 0.8203 0.9612 0.7891 0.7611 0.7786 0.7767 0.58 0.21 0.76 0.51 0.74 rs1047626 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.337 0.140 N 1 0.090 P 1.245 0.315 L 2.06 0.205 T -0.5 0.158 N 0.015 0.003 -0.949 0.412 T 0.000 0.000 T . . . -2.119 0.007 0.001 0.375 0.025 0.012 0.041 N c -1.440 -1.451 0.168 0.177 0.737 0.974 0 -2.85 0.054 -1.007 0.037 -1.132 0.018 0.000 0.063 0.024 0.140 4.598 0.117 . . . 0.7493 0.1932 0.8090 0.7086 0.9601 0.7942 0.7629 0.7519 0.7761 0.6167 0.2093 0.7536 0.7053 0.9530 0.7978 0.7587 0.7286 het 846.78 77 4 42003671 . A G 846.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.662;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58.05;MQ0=0;MQRankSum=0.477;QD=11.00;ReadPosRankSum=-0.415;VQSLOD=5.6721;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,34:77:99:877,0,1127 4 42020142 42020142 A G exonic SLC30A9 nonsynonymous SNV SLC30A9:NM_006345:exon3:c.A289G:p.T97A 0.98 0.97 0.99 1. 0.97 0.98 0.9793 0.9757 0.9909 0.9948 0.9798 0.9756 0.9878 0.9799 0.98 0.97 0.98 0.95 0.76 rs2581423 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.177 0.172 N 1 0.090 P -0.975 0.012 N 2.1 0.200 T -0.32 0.123 N 0.011 0.002 -0.975 0.362 T 0.000 0.000 T . . . -0.353 0.065 0.501 0.245 0.011 0.001 0.004 N c -1.103 -0.902 0.019 0.131 0.706 0.609 0 3.52 0.393 0.484 0.219 0.104 0.200 0.001 0.137 0.593 0.287 6.242 0.199 . . . 0.9796 0.9762 0.9890 0.9815 0.9956 0.9767 0.9747 0.9812 0.9811 0.9749 0.9708 0.9856 0.9768 0.9975 0.9777 0.9732 0.9815 hom 2276.47 80 4 42020142 . A G 2276.47 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.48;MQ0=0;QD=28.46;VQSLOD=8.5022;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2309,178,0 4 42022464 42022464 C A exonic SLC30A9 synonymous SNV SLC30A9:NM_006345:exon4:c.C366A:p.G122G 0.67 0.19 0.8 0.96 0.78 0.8 0.7582 0.2685 0.8404 0.9688 0.8168 0.7766 0.7952 0.7986 0.61 0.28 0.78 0.56 0.73 rs15857 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7690 0.2580 0.8290 0.7098 0.9688 0.8185 0.7790 0.7688 0.7955 0.6483 0.2741 0.7780 0.7020 0.9635 0.8155 0.7779 0.75 het 1839.47 160 4 42022464 . C A 1839.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.951;DP=160;Dels=0.00;FS=1.243;HRun=0;HaplotypeScore=1.8773;MQ=58.94;MQ0=0;MQRankSum=-0.531;QD=11.50;ReadPosRankSum=-0.078;VQSLOD=6.5581;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,73:160:99:1869,0,2272 4 42457545 42457545 G A exonic ATP8A1 synonymous SNV ATP8A1:NM_001105529:exon27:c.C2646T:p.N882N,ATP8A1:NM_006095:exon28:c.C2691T:p.N897N 0.15 0.39 0.098 0.04 0.046 0.072 0.0731 0.3368 0.0993 0.0169 0.0342 0.0429 0.0479 0.0573 0.14 0.33 0.044 0.21 0.041 rs61735691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0677 0.3389 0.0975 0.0393 0.0189 0.0327 0.0423 0.0544 0.0561 0.1241 0.3384 0.0919 0.0331 0.0235 0.0356 0.0392 0.0602 het 789.04 58 4 42457545 . G A 789.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.528;DP=58;Dels=0.00;FS=1.116;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.436;QD=13.60;ReadPosRankSum=-0.795;VQSLOD=6.1029;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:819,0,771 4 42629038 42629038 C T exonic ATP8A1 synonymous SNV ATP8A1:NM_001105529:exon2:c.G138A:p.L46L,ATP8A1:NM_006095:exon2:c.G138A:p.L46L 0.083 0.15 0.042 0.038 0.08 0.064 0.0733 0.1558 0.0374 0.0217 0.0566 0.0759 0.0802 0.0692 0.1 0.16 0.076 0.043 0.09 rs16854624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0695 0.1580 0.0408 0.0963 0.0237 0.0537 0.0737 0.0736 0.0694 0.0892 0.1589 0.0621 0.1126 0.0235 0.0521 0.0671 0.0652 het 553.87 44 4 42629038 . C T 553.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.655;DP=44;Dels=0.00;FS=1.194;HRun=1;HaplotypeScore=2.8325;MQ=60.00;MQ0=0;MQRankSum=-1.175;QD=12.59;ReadPosRankSum=-1.057;VQSLOD=5.7135;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,23:44:99:584,0,568 4 44626641 44626641 A G exonic YIPF7 synonymous SNV YIPF7:NM_182592:exon5:c.T657C:p.G219G 0.55 0.69 0.46 0.56 0.41 0.57 0.4900 0.6584 0.5306 0.5747 0.4310 0.4335 0.4835 0.5528 0.45 0.61 0.37 0.47 . rs60959366 COSM4159083 1(breast);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4239 0.6338 0.4539 0.4307 0.5393 0.3351 0.3597 0.4209 0.5229 0.4627 0.6497 0.4616 0.47 0.5740 0.3388 0.3738 0.4153 het 334.21 24 4 44626641 . A G 334.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.939;DP=24;Dels=0.00;FS=4.993;HRun=0;HaplotypeScore=0.9958;MQ=59.03;MQ0=0;MQRankSum=1.077;QD=13.93;ReadPosRankSum=-1.200;VQSLOD=5.3694;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,13:24:99:364,0,320 4 44682465 44682465 T C exonic GUF1 nonsynonymous SNV GUF1:NM_001345868:exon2:c.T173C:p.L58P,GUF1:NM_021927:exon2:c.T173C:p.L58P 0.44 0.29 0.52 0.4 0.6 0.46 0.5915 0.3698 0.5343 0.4519 0.6798 0.6592 0.6176 0.5258 0.54 0.35 0.64 0.51 0.42 rs6447368 COSM149668 1(stomach);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.439 0.093 T 0.0 0.026 B 0.001 0.040 B 0.700 0.062 N 0.999 0.214 P 1.265 0.321 L -0.45 0.699 T -1.59 0.383 N 0.021 0.005 -0.917 0.460 T 0.000 0.000 T . . . 1.002 0.190 10.67 0.960 0.278 0.715 0.348 D c -0.683 -0.541 1.000 0.747 0.732 0.924 0 2.83 0.320 4.786 0.619 -0.209 0.100 0.756 0.290 0.886 0.372 7.019 0.239 P-loop containing nucleoside triphosphate hydrolase ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000151806.9|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000151806.9|ENSG00000272936.1|ENSG00000272936.1|ENSG00000163281.7|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000151806.9|ENSG00000163281.7|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000163281.7|ENSG00000272936.1|ENSG00000272936.1|ENSG00000163281.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood 0.5599 0.3307 0.4960 0.5432 0.3923 0.6612 0.6349 0.5744 0.4948 0.5302 0.3276 0.5108 0.5033 0.3779 0.6645 0.6317 0.5767 het 307.73 30 4 44682465 . T C 307.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.656;DP=30;Dels=0.00;FS=1.744;HRun=1;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;MQRankSum=-0.021;QD=10.26;ReadPosRankSum=-1.672;VQSLOD=5.3352;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,12:30:99:338,0,551 4 46086060 46086060 T C exonic GABRG1 synonymous SNV GABRG1:NM_173536:exon3:c.A264G:p.T88T 0.51 0.72 0.56 0.33 0.55 0.33 0.5726 0.7166 0.5947 0.4510 0.6844 0.5968 0.5497 0.3900 0.6 0.7 0.55 0.6 0.19 rs976156 COSM149669 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5146 0.6983 0.5325 0.4329 0.3663 0.6332 0.5449 0.4967 0.3348 0.5938 0.6892 0.5408 0.44 0.3793 0.6387 0.5591 0.5531 hom 264.14 10 4 46086060 . T C 264.14 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;QD=26.41;VQSLOD=8.0279;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:297,24,0 4 46314593 46314593 T C exonic GABRA2 synonymous SNV GABRA2:NM_001114175:exon4:c.A396G:p.K132K,GABRA2:NM_001286827:exon4:c.A231G:p.K77K,GABRA2:NM_000807:exon5:c.A396G:p.K132K,GABRA2:NM_001330690:exon5:c.A396G:p.K132K 0.36 0.23 0.47 0.53 0.43 0.23 0.3980 0.2546 0.5159 0.5168 0.4262 0.4191 0.3603 0.2433 0.38 0.26 0.44 0.3 0.39 rs279858 COSM1178493 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4029 0.2479 0.5031 0.3066 0.5147 0.4156 0.4271 0.4027 0.2360 0.3844 0.2458 0.4785 0.3212 0.5225 0.4103 0.4400 0.3899 het 1452.49 131 4 46314593 . T C 1452.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.414;DP=131;Dels=0.00;FS=2.275;HRun=0;HaplotypeScore=6.5946;MQ=58.93;MQ0=0;MQRankSum=1.076;QD=11.09;ReadPosRankSum=0.379;VQSLOD=4.9892;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,59:131:99:1482,0,1742 4 46995366 46995366 G T exonic GABRA4 nonsynonymous SNV GABRA4:NM_000809:exon1:c.C76A:p.L26M 0.3 0.25 0.3 0.39 0.37 0.21 0.3144 0.2543 0.2723 0.3756 0.2156 0.3569 0.3093 0.2184 0.33 0.26 0.37 0.33 0.17 rs2229940 COSM1131120 1(breast);1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(oesophagus);1(prostate);2(large_intestine) . . . . . . . . . . . 0.023 0.481 D 0.091 0.237 B 0.103 0.294 B 0.108 0.195 N 0.808 0.290 P 0.895 0.225 L -1.56 0.818 D -0.4 0.138 N 0.094 0.253 -1.052 0.137 T 0.000 0.000 T . . . 4.591 0.615 24.4 0.983 0.400 0.844 0.432 D c -0.259 -0.126 0.996 0.345 0.583 0.331 0 2.98 0.334 2.874 0.479 0.905 0.419 1.000 0.715 1.000 0.888 6.801 0.228 . ENSG00000170516.12|ENSG00000109158.6 Testis|Testis 0.3146 0.2541 0.2801 0.3946 0.3817 0.2170 0.3611 0.3274 0.2199 0.2980 0.2577 0.2924 0.3742 0.3550 0.2218 0.3330 0.2806 het 3188.79 206 4 46995366 . G T 3188.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.002;DP=206;Dels=0.00;FS=6.008;HRun=0;HaplotypeScore=3.8204;MQ=58.89;MQ0=0;MQRankSum=1.226;QD=15.48;ReadPosRankSum=1.692;VQSLOD=3.7616;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,122:206:99:3219,0,2047 4 47322190 47322190 T C exonic GABRB1 synonymous SNV GABRB1:NM_000812:exon5:c.T508C:p.L170L 0.97 0.9 0.98 1. 0.99 1. 0.9841 0.9161 0.9901 0.9999 0.9977 0.9869 0.9923 0.9975 0.96 0.91 0.99 0.96 0.98 rs4482737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9857 0.9173 0.9886 0.9758 1 0.9982 0.9876 0.9829 0.9964 0.9711 0.9208 0.9869 0.9834 0.9994 0.9974 0.9889 0.9878 hom 3035.93 104 4 47322190 . T C 3035.93 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.36;MQ0=0;QD=29.19;VQSLOD=8.8703;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3069,226,0 4 47408709 47408709 A G exonic GABRB1 synonymous SNV GABRB1:NM_000812:exon8:c.A846G:p.T282T 0.21 0.31 0.19 0.018 0.31 0.19 0.2607 0.2721 0.1442 0.0080 0.2753 0.3247 0.2682 0.2026 0.31 0.27 0.33 0.28 0.4 rs6289 COSM5420309 1(pancreas) . . . . . Obesity-related traits . .03 23251661 rs6289 5E-6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2555 0.2726 0.1513 0.3329 0.0082 0.2716 0.3255 0.2893 0.2034 0.2724 0.2695 0.1933 0.3179 0.0068 0.2742 0.3061 0.2679 het 1210.90 107 4 47408709 . A G 1210.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.018;DP=107;Dels=0.00;FS=1.571;HRun=1;HaplotypeScore=1.8268;MQ=57.95;MQ0=0;MQRankSum=-0.247;QD=11.32;ReadPosRankSum=-0.498;VQSLOD=5.0072;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,48:107:99:1241,0,1554 4 47584046 47584046 G A exonic ATP10D nonsynonymous SNV ATP10D:NM_020453:exon21:c.G3718A:p.V1240I 0.3 0.33 0.25 0.57 0.16 0.16 0.2204 0.3049 0.2690 0.5880 0.1908 0.1664 0.2269 0.1707 0.21 0.29 0.16 0.28 0.2 rs1058793 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.000 0.486 N 1.000 0.203 P -1.305 0.007 N 0.7 0.515 T 0.8 0.019 N 0.064 0.049 -0.931 0.440 T 0.000 0.000 T . . . 1.789 0.276 14.92 0.237 0.010 0.132 0.175 N c -0.602 -0.345 0.938 0.273 0.672 0.522 0 5.01 0.663 5.563 0.668 0.126 0.213 1.000 0.715 0.998 0.697 7.626 0.272 P-type ATPase\x2c C-terminal ENSG00000145246.9 Artery_Tibial 0.2197 0.3106 0.2588 0.1454 0.5898 0.1922 0.1643 0.1991 0.1728 0.2320 0.3010 0.2697 0.1391 0.5811 0.1952 0.1671 0.1650 het 2093.73 216 4 47584046 . G A 2093.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.231;DP=216;DS;Dels=0.00;FS=2.389;HRun=0;HaplotypeScore=4.2573;MQ=58.47;MQ0=0;MQRankSum=0.218;QD=9.69;ReadPosRankSum=0.372;VQSLOD=5.4770;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:128,87:216:99:2124,0,3315 4 47667064 47667064 T C exonic CORIN nonsynonymous SNV CORIN:NM_001278585:exon9:c.A1262G:p.H421R,CORIN:NM_001278586:exon10:c.A1463G:p.H488R,CORIN:NM_006587:exon11:c.A1574G:p.H525R 0.91 0.99 0.88 0.97 0.88 0.8 0.8763 0.9769 0.9136 0.9764 0.9222 0.8576 0.8645 0.7928 0.89 0.97 0.85 0.9 0.83 rs11934749 . . . . . . . . . . . . . 1.0 0.040 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.090 P -2.205 0.001 N -0.89 0.748 T 1.79 0.013 N 0.069 0.182 -0.955 0.402 T 0.000 0.000 T . . . -0.835 0.039 0.036 0.163 0.004 0.039 0.092 N c -0.999 -0.759 0.001 0.086 0.549 0.223 0 4.33 0.509 1.707 0.373 -0.331 0.074 0.998 0.411 0.001 0.043 12.610 0.557 Frizzled domain . . 0.8733 0.9791 0.9054 0.7047 0.9770 0.9178 0.8615 0.8573 0.7947 0.9078 0.9786 0.9045 0.6589 0.9765 0.9158 0.8645 0.8778 hom 2019.09 65 4 47667064 . T C 2019.09 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;QD=31.06;VQSLOD=9.3472;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2052,165,0 4 47682174 47682174 A G exonic CORIN synonymous SNV CORIN:NM_006587:exon8:c.T1116C:p.S372S 0.37 0.25 0.52 0.13 0.58 0.46 0.5021 0.2964 0.4996 0.1190 0.5474 0.5865 0.4633 0.4747 0.49 0.3 0.59 0.3 0.58 rs10517195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5045 0.2912 0.5009 0.5674 0.1124 0.5545 0.5884 0.5130 0.4737 0.4735 0.2910 0.5060 0.5633 0.1075 0.5436 0.5963 0.5184 hom 2516.84 91 4 47682174 . A G 2516.84 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5476;MQ=59.08;MQ0=0;QD=27.66;VQSLOD=8.0644;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:91:99:2550,205,0 4 47839929 47839929 C T exonic CORIN nonsynonymous SNV CORIN:NM_001278585:exon1:c.G38A:p.C13Y,CORIN:NM_001278586:exon1:c.G38A:p.C13Y,CORIN:NM_006587:exon1:c.G38A:p.C13Y 0.69 0.57 0.74 0.69 0.75 0.77 0.7369 0.6212 0.7400 0.6377 0.8245 0.7521 0.7291 0.7636 0.71 0.62 0.75 0.65 0.79 rs2289433 COSM4159089 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.353 0.043 N 1 0.090 P -0.55 0.024 N -2.45 0.920 D 0.83 0.022 N 0.02 0.007 -1.028 0.212 T 0.000 0.000 T . . . -2.285 0.005 0.001 0.803 0.127 0.003 0.018 N c -2.178 -2.154 1.000 0.747 0.437 0.062 0 -4.22 0.035 -0.739 0.049 -1.497 0.010 0.001 0.137 0.000 0.016 7.196 0.249 . ENSG00000198515.9|ENSG00000163293.7|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000170448.7|ENSG00000259959.1|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000163293.7|ENSG00000198515.9|ENSG00000198515.9|ENSG00000163293.7|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000170448.7|ENSG00000259959.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Spleen|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood 0.7393 0.6158 0.7509 0.6640 0.6291 0.8279 0.7529 0.7394 0.7610 0.7246 0.6201 0.7434 0.6755 0.6242 0.8315 0.7669 0.7898 hom 6039.52 195 4 47839929 . C T 6039.52 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8134;MQ=58.61;MQ0=0;QD=30.97;VQSLOD=8.6740;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:6038,499,0 4 47887536 47887536 T C exonic NFXL1 synonymous SNV NFXL1:NM_001278623:exon14:c.A1803G:p.A601A,NFXL1:NM_001278624:exon14:c.A1803G:p.A601A,NFXL1:NM_152995:exon14:c.A1803G:p.A601A 0.72 0.66 0.75 0.69 0.75 0.77 0.7441 0.6814 0.7432 0.6381 0.8243 0.7546 0.7335 0.7659 0.73 0.68 0.75 0.7 0.8 rs2053404 COSM5482403;COSM5482404 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7452 0.6769 0.7538 0.6646 0.6290 0.8283 0.7554 0.7415 0.7639 0.7424 0.6783 0.7536 0.6767 0.6239 0.8324 0.7688 0.7929 hom 5044.75 167 4 47887536 . T C 5044.75 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.05;MQ0=0;QD=30.21;VQSLOD=8.9652;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5044,403,0 4 47887991 47887991 G A exonic NFXL1 synonymous SNV NFXL1:NM_001278623:exon13:c.C1569T:p.T523T,NFXL1:NM_001278624:exon13:c.C1569T:p.T523T,NFXL1:NM_152995:exon13:c.C1569T:p.T523T 0.72 0.66 0.75 0.69 0.75 0.77 0.7441 0.6807 0.7430 0.6399 0.8243 0.7545 0.7335 0.7659 0.73 0.68 0.75 0.71 0.78 rs6818556 COSM5619163;COSM5619164 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7451 0.6763 0.7539 0.6643 0.6290 0.8282 0.7555 0.7413 0.7638 0.7424 0.6778 0.7530 0.68 0.625 0.8330 0.7689 0.7929 hom 5631.77 159 4 47887991 . G A 5631.77 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.689;DP=159;DS;Dels=0.00;FS=6.962;HRun=0;HaplotypeScore=7.8290;MQ=58.98;MQ0=0;MQRankSum=1.580;QD=35.42;ReadPosRankSum=1.471;VQSLOD=4.2633;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,158:159:99:5598,406,0 4 47901476 47901476 G A exonic NFXL1 nonsynonymous SNV NFXL1:NM_001278623:exon6:c.C737T:p.P246L,NFXL1:NM_001278624:exon6:c.C737T:p.P246L,NFXL1:NM_152995:exon6:c.C737T:p.P246L 0.39 0.33 0.34 0.6 0.33 0.35 0.3513 0.3391 0.3257 0.5639 0.4330 0.3212 0.3587 0.3544 0.32 0.33 0.31 0.37 0.39 rs12651301 COSM3760649;COSM3760648 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.588 P 2.15 0.603 M 0.91 0.449 T -8.58 0.974 D 0.285 0.419 -0.904 0.476 T 0.000 0.000 T . . . 6.100 0.840 28.2 0.998 0.855 0.990 0.899 D c 0.708 0.651 1.000 0.747 0.719 0.830 0 5.58 0.843 9.332 0.964 0.953 0.551 1.000 0.715 0.882 0.370 19.558 0.953 . ENSG00000198515.9|ENSG00000163293.7|ENSG00000198515.9|ENSG00000198515.9|ENSG00000259959.1|ENSG00000198515.9|ENSG00000259959.1|ENSG00000170448.7|ENSG00000198515.9|ENSG00000259959.1|ENSG00000198515.9|ENSG00000259959.1|ENSG00000198515.9|ENSG00000145244.7|ENSG00000163293.7|ENSG00000198515.9|ENSG00000170448.7|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000259959.1|ENSG00000198515.9|ENSG00000163293.7|ENSG00000259959.1|ENSG00000170448.7|ENSG00000259959.1|ENSG00000145244.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3507 0.3383 0.3318 0.2738 0.5586 0.4318 0.3158 0.3342 0.3560 0.3535 0.3392 0.3234 0.2682 0.5649 0.4452 0.3184 0.3918 het 1014.75 90 4 47901476 . G A 1014.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.513;DP=90;Dels=0.00;FS=0.816;HRun=0;HaplotypeScore=5.2818;MQ=60.00;MQ0=0;MQRankSum=-1.116;QD=11.28;ReadPosRankSum=-1.149;VQSLOD=3.9884;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,40:90:99:1045,0,1255 4 47938879 47938879 G A exonic CNGA1 synonymous SNV CNGA1:NM_001142564:exon10:c.C1839T:p.F613F,CNGA1:NM_000087:exon11:c.C1632T:p.F544F 0.039 0.0023 0.037 0.005 0.074 0.088 0.0659 0.0138 0.0304 0.0023 0.0868 0.0800 0.0820 0.0887 0.061 0.017 0.084 0.043 0.057 rs17573673 . . Likely benign Retinitis_Pigmentosa\x2c_Recessive RCV000378179.1 MedGen CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0662 0.0128 0.0313 0.0797 0.0032 0.0848 0.0824 0.0698 0.0889 0.0648 0.0127 0.0394 0.0894 0.0037 0.0864 0.0967 0.0765 het 2681.27 201 4 47938879 . G A 2681.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.648;DP=201;Dels=0.00;FS=1.122;HRun=2;HaplotypeScore=6.0060;MQ=58.34;MQ0=0;MQRankSum=0.476;QD=13.34;ReadPosRankSum=-0.411;VQSLOD=4.8361;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,100:201:99:2711,0,2421 4 48115264 48115264 C T exonic TXK nonsynonymous SNV TXK:NM_003328:exon3:c.G134A:p.R45H 0.17 0.026 0.34 0.069 0.37 0.16 0.3004 0.0692 0.4365 0.0813 0.3334 0.3665 0.2731 0.1861 0.27 0.08 0.37 0.2 0.31 rs7658300 COSM3736349 1(skin) . . . . . . . . . . . 0.245 0.174 T 0.0 0.026 B 0.0 0.013 B 0.527 0.052 N 1 0.090 P 0.145 0.088 N -0.85 0.744 T 0.94 0.021 N 0.022 0.330 -1.077 0.079 T 0.000 0.000 T . . . -0.749 0.043 0.056 0.804 0.128 0.005 0.025 N c -1.839 -1.919 1.000 0.480 0.554 0.246 0 -7.49 0.012 -4.399 0.003 -1.826 0.006 0.000 0.063 0.000 0.016 9.289 0.367 . . . 0.3100 0.0633 0.4378 0.3214 0.0780 0.3360 0.3688 0.3151 0.1863 0.2596 0.0672 0.3962 0.3278 0.0779 0.3387 0.3601 0.3194 het 2152.83 173 4 48115264 . C T 2152.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.372;DP=173;Dels=0.00;FS=1.893;HRun=0;HaplotypeScore=8.8812;MQ=59.49;MQ0=0;MQRankSum=0.169;QD=12.44;ReadPosRankSum=-0.190;VQSLOD=4.6287;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:79,94:173:99:2183,0,1913 4 48165757 48165757 G A exonic TEC synonymous SNV TEC:NM_003215:exon8:c.C699T:p.Y233Y 0.05 0.076 0.04 . 0.05 0.073 0.0826 0.1136 0.0645 0.0009 0.0673 0.0909 0.0503 0.0772 0.062 0.076 0.055 0.022 0.016 rs16861083 COSM447909 1(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0445 0.0750 0.0186 0.0618 0.0006 0.0361 0.0511 0.0507 0.0600 0.0611 0.0873 0.0334 0.0563 0.0012 0.0436 0.0592 0.0418 het 159.53 16 4 48165757 . G A 159.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.943;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8295;MQ=50.97;MQ0=0;MQRankSum=0.683;QD=9.97;ReadPosRankSum=0.788;VQSLOD=2.3379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,8:16:99:190,0,208 4 48172266 48172266 G A exonic TEC synonymous SNV TEC:NM_003215:exon5:c.C453T:p.S151S 0.52 0.34 0.49 0.89 0.36 0.57 0.4227 0.3331 0.4959 0.8913 0.3770 0.3458 0.4267 0.5105 0.34 0.34 0.34 0.47 0.34 rs2271173 COSM5019134 11(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4239 0.3295 0.4859 0.2911 0.8928 0.3799 0.3442 0.4187 0.5076 0.3866 0.3338 0.4868 0.2980 0.9109 0.3918 0.3556 0.3885 het 1286.34 128 4 48172266 . G A 1286.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.683;DP=128;Dels=0.00;FS=0.667;HRun=0;HaplotypeScore=2.3883;MQ=59.82;MQ0=0;MQRankSum=1.016;QD=10.05;ReadPosRankSum=-0.065;VQSLOD=6.3855;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,56:128:99:1316,0,2010 4 48492769 48492769 A T exonic ZAR1 nonsynonymous SNV ZAR1:NM_175619:exon1:c.A461T:p.Q154L 0.39 0.17 0.57 0.45 0.51 0.37 0.5481 0.2956 0.6617 0.5664 0.5846 0.5571 0.5862 0.4821 0.32 0.17 0.39 . 0.016 rs74929644 COSM4159095 1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.081 0.334 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 0.55 0.145 N . . . -1.29 0.324 N 0.064 0.052 -0.896 0.484 T 0.000 0.000 T . . . -1.265 0.023 0.005 0.570 0.055 0.040 0.093 N c -1.535 -1.629 1.000 0.500 0.598 0.340 0 -6.17 0.019 -0.075 0.113 -0.394 0.063 0.000 0.063 0.000 0.016 0.988 0.013 . ENSG00000109180.10|ENSG00000145248.6|ENSG00000109180.10|ENSG00000109180.10|ENSG00000109180.10|ENSG00000109180.10|ENSG00000109180.10|ENSG00000145248.6|ENSG00000109180.10 Artery_Aorta|Artery_Aorta|Artery_Tibial|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Skin_Sun_Exposed_Lower_leg 0.4285 0.1756 0.5891 0.3745 0.4597 0.4633 0.4384 0.4616 0.3330 0.3980 0.2026 0.6118 0.4167 0.4808 0.5030 0.4614 0.4844 het 210.72 12 4 48492769 . A T 210.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.738;QD=17.56;ReadPosRankSum=1.159;VQSLOD=10.9112;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:1,11:12:17.51:241,0,18 4 48582909 48582909 G A exonic FRYL synonymous SNV FRYL:NM_015030:exon22:c.C2232T:p.S744S 0.39 0.17 0.57 0.45 0.52 0.35 0.4655 0.2070 0.6229 0.4992 0.5080 0.4941 0.5044 0.3559 0.39 0.2 0.48 0.34 0.45 rs4695391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4708 0.2072 0.6248 0.4535 0.4889 0.4977 0.4853 0.5013 0.3539 0.4050 0.2100 0.6232 0.4636 0.4814 0.5075 0.4683 0.4754 het 1642.77 159 4 48582909 . G A 1642.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.639;DP=159;Dels=0.00;FS=1.326;HRun=2;HaplotypeScore=3.3225;MQ=59.27;MQ0=0;MQRankSum=-0.303;QD=10.33;ReadPosRankSum=0.054;VQSLOD=6.3856;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,71:159:99:1673,0,2489 4 48588742 48588742 C T exonic FRYL synonymous SNV FRYL:NM_015030:exon19:c.G1644A:p.G548G 0.53 0.62 0.35 0.53 0.46 0.62 0.4876 0.6150 0.3008 0.4710 0.4714 0.4749 0.4489 0.6108 0.53 0.62 0.49 0.54 0.48 rs34558821 COSM4003091 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4777 0.6061 0.2919 0.5074 0.4744 0.4790 0.4796 0.4529 0.6047 0.5256 0.6171 0.3098 0.5 0.4802 0.4733 0.5044 0.4887 het 411.99 60 4 48588742 . C T 411.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.160;DP=60;Dels=0.00;FS=3.851;HRun=0;HaplotypeScore=0.9332;MQ=59.38;MQ0=0;MQRankSum=1.303;QD=6.87;ReadPosRankSum=-0.227;VQSLOD=5.1773;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,19:60:99:442,0,1161 4 49063872 49063872 C A exonic CWH43 nonsynonymous SNV CWH43:NM_001286791:exon16:c.C1984A:p.H662N,CWH43:NM_025087:exon16:c.C2065A:p.H689N 0.48 0.2 0.75 0.37 0.75 0.49 0.6524 0.2630 0.8141 0.3925 0.7352 0.7329 0.7090 0.5470 0.56 0.28 0.71 0.4 0.32 rs1051447 COSM4159099 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . 0.373 0.232 T 0.961 0.535 D 0.691 0.520 P 0.004 0.338 N 0.084 0.365 P 2.215 0.627 M 1.55 0.425 T -1.78 0.420 N 0.177 0.215 -1.000 0.298 T 0.000 0.000 T . . . 4.890 0.657 24.9 0.985 0.419 0.862 0.452 D c 0.526 0.521 0.003 0.096 0.487 0.133 0 4.59 0.561 4.073 0.570 0.789 0.320 1.000 0.715 0.997 0.653 13.203 0.590 . . . 0.6552 0.2404 0.7908 0.7285 0.3543 0.7369 0.7187 0.6986 0.5396 0.5785 0.2630 0.7764 0.7682 0.4060 0.7449 0.7193 0.7037 hom 694.11 27 4 49063872 . C A 694.11 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.04;MQ0=0;QD=25.71;VQSLOD=7.4504;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:54.17:727,54,0 4 52938243 52938243 T C exonic SPATA18 nonsynonymous SNV SPATA18:NM_001346103:exon2:c.T4C:p.S2P,SPATA18:NM_001346102:exon4:c.T268C:p.S90P,SPATA18:NM_001297608:exon5:c.T583C:p.S195P,SPATA18:NM_145263:exon6:c.T679C:p.S227P 0.38 0.084 0.62 0.4 0.64 0.34 0.5554 0.1566 0.6314 0.4024 0.5742 0.6600 0.5795 0.4000 0.48 0.17 0.64 0.27 0.58 rs3860707 COSM3927814;COSM3927815 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) . . . . . . . . . . . 0.207 0.198 T 0.378 0.325 B 0.192 0.348 B 0.058 0.225 N 1 0.090 P 2.395 0.694 M 1.5 0.312 T -2.19 0.496 N 0.18 0.350 -1.012 0.263 T 0.000 0.000 T . . . -0.612 0.049 0.117 0.926 0.214 0.043 0.097 N c -1.269 -1.415 0.004 0.105 0.638 0.428 0 -3.84 0.040 0.440 0.212 0.014 0.141 0.000 0.063 0.000 0.016 16.528 0.841 . . . 0.5635 0.1502 0.6354 0.5600 0.4005 0.5794 0.6649 0.5995 0.3969 0.4910 0.1596 0.6211 0.5530 0.4061 0.5576 0.6633 0.5746 het 2201.96 168 4 52938243 . T C 2201.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.244;DP=168;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4053;MQ=59.27;MQ0=0;MQRankSum=-0.116;QD=13.11;ReadPosRankSum=-0.950;VQSLOD=5.5598;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,82:168:99:2232,0,2018 4 54011603 54011603 C T exonic SCFD2 synonymous SNV SCFD2:NM_152540:exon5:c.G1458A:p.T486T 0.13 0.014 0.17 0.23 0.076 0.19 0.1148 0.0256 0.2500 0.2410 0.1182 0.0716 0.1112 0.1837 0.053 0.024 0.068 0.098 0.066 rs17082453 COSM4003095 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1214 0.0250 0.2377 0.0832 0.2390 0.1214 0.0691 0.0983 0.1824 0.0796 0.0275 0.2088 0.0828 0.2599 0.1207 0.0721 0.1022 het 1634.41 114 4 54011603 . C T 1634.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.845;DP=114;Dels=0.00;FS=2.442;HRun=0;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;MQRankSum=-1.043;QD=14.34;ReadPosRankSum=0.703;VQSLOD=6.2767;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,55:114:99:1664,0,1616 4 54966667 54966667 C T exonic GSX2 synonymous SNV GSX2:NM_133267:exon1:c.C156T:p.S52S 0.6 0.29 0.72 0.84 0.61 0.67 0.6340 0.3386 0.7847 0.8365 0.6543 0.6221 0.6233 0.6395 0.52 0.34 0.62 0.3 0.48 rs3194383 COSM3760660 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6411 0.3289 0.7767 0.5575 0.8347 0.6431 0.6212 0.6310 0.6363 0.5630 0.3455 0.7566 0.5563 0.8375 0.6556 0.6207 0.6650 hom 1259.62 40 4 54966667 . C T 1259.62 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.49;VQSLOD=13.8587;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1293,108,0 4 55130078 55130078 T C exonic PDGFRA synonymous SNV PDGFRA:NM_001347827:exon4:c.T612C:p.N204N,PDGFRA:NM_001347829:exon4:c.T612C:p.N204N,PDGFRA:NM_001347830:exon4:c.T651C:p.N217N,PDGFRA:NM_006206:exon4:c.T612C:p.N204N,PDGFRA:NM_001347828:exon5:c.T687C:p.N229N 0.24 0.28 0.35 0.2 0.12 0.25 0.1796 0.2588 0.4349 0.1826 0.1240 0.1174 0.1567 0.2250 0.17 0.25 0.12 0.28 0.074 rs2229307 COSM4416371 1(haematopoietic_and_lymphoid_tissue);6(soft_tissue);3(large_intestine) Benign|Benign|Benign not_specified|Idiopathic_hypereosinophilic_syndrome|Gastrointestinal_stromal_tumor RCV000252228.1|RCV000339285.1|RCV000403882.1 MedGen|MedGen:OMIM:Orphanet|MeSH:MedGen:OMIM:Orphanet CN169374|C0206141:607685:ORPHA3260|D046152:C0238198:606764:ORPHA44890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1855 0.2587 0.4145 0.0715 0.1776 0.1241 0.1210 0.1578 0.2225 0.1677 0.2562 0.3759 0.07 0.1780 0.1216 0.1175 0.1487 het 714.59 67 4 55130078 . T C 714.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.461;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7719;MQ=59.66;MQ0=0;MQRankSum=1.355;QD=10.67;ReadPosRankSum=-0.700;VQSLOD=6.0499;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,30:67:99:745,0,1017 4 55131118 55131118 C T exonic PDGFRA nonsynonymous SNV PDGFRA:NM_001347827:exon5:c.C661T:p.L221F,PDGFRA:NM_001347829:exon5:c.C661T:p.L221F,PDGFRA:NM_001347830:exon5:c.C700T:p.L234F,PDGFRA:NM_006206:exon5:c.C661T:p.L221F,PDGFRA:NM_001347828:exon6:c.C736T:p.L246F 0.0016 . . . 0.004 0.0041 0.0038 0.0010 0.0017 0 0.0023 0.0054 0.0022 0.0030 0.0033 0.0002 0.0049 0.011 0.016 rs139913632 . . Uncertain significance|not provided|other|Likely benign not_provided|not_specified|Gastrointestinal_stromal_tumor|Idiopathic_hypereosinophilic_syndrome RCV000034723.1|RCV000121797.1|RCV000204480.4|RCV000290148.1 MedGen|MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN221809|CN169374|D046152:C0238198:606764:ORPHA44890|C0206141:607685:ORPHA3260 . . . . . . 0.053 0.388 T 0.358 0.320 B 0.246 0.371 B 0.270 0.038 U 1.000 0.090 N 0.895 0.225 L -0.93 0.752 T -0.83 0.227 N 0.092 0.104 -0.643 0.630 T 0.271 0.642 T 0.031 0.536 D 2.378 0.347 18.68 0.994 0.632 0.357 0.251 N c -0.350 -0.297 0.999 0.394 0.598 0.340 0 4.38 0.519 0.908 0.280 0.892 0.403 0.000 0.063 0.037 0.154 17.459 0.875 Immunoglobulin-like domain . . 0.0034 0.0010 0.0016 0.0001 0 0.0018 0.0057 0.0022 0.0030 0.0036 0.0008 0 0 0 0.0026 0.0061 0.0041 het 2250.34 178 4 55131118 . C T 2250.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.252;DP=178;Dels=0.00;FS=1.217;HRun=2;HaplotypeScore=2.7932;MQ=59.73;MQ0=0;MQRankSum=0.198;QD=12.64;ReadPosRankSum=-0.841;VQSLOD=4.7823;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,89:178:99:2280,0,2298 4 55133726 55133726 T G exonic PDGFRA synonymous SNV PDGFRA:NM_001347827:exon7:c.T939G:p.G313G,PDGFRA:NM_001347829:exon7:c.T939G:p.G313G,PDGFRA:NM_001347830:exon7:c.T978G:p.G326G,PDGFRA:NM_006206:exon7:c.T939G:p.G313G,PDGFRA:NM_001347828:exon8:c.T1014G:p.G338G 0.23 0.27 0.35 0.2 0.12 0.25 0.1775 0.2537 0.4315 0.1818 0.1245 0.1151 0.1534 0.2242 0.16 0.25 0.12 0.27 0.074 rs4358459 COSM1666925 1(haematopoietic_and_lymphoid_tissue);6(soft_tissue);1(oesophagus);3(large_intestine);1(central_nervous_system) Benign|Benign|Benign not_specified|Idiopathic_hypereosinophilic_syndrome|Gastrointestinal_stromal_tumor RCV000244224.1|RCV000322335.1|RCV000377030.1 MedGen|MedGen:OMIM:Orphanet|MeSH:MedGen:OMIM:Orphanet CN169374|C0206141:607685:ORPHA3260|D046152:C0238198:606764:ORPHA44890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1841 0.2564 0.4122 0.0668 0.1783 0.1241 0.1195 0.1546 0.2227 0.1669 0.2557 0.3747 0.0662 0.1782 0.1219 0.1162 0.1472 het 1121.49 106 4 55133726 . T G 1121.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.447;DP=106;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7825;MQ=59.37;MQ0=0;MQRankSum=0.202;QD=10.58;ReadPosRankSum=-0.939;VQSLOD=6.6024;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,44:106:99:1151,0,1499 4 55139771 55139771 T C exonic PDGFRA nonsynonymous SNV PDGFRA:NM_001347827:exon10:c.T1432C:p.S478P,PDGFRA:NM_001347829:exon10:c.T1432C:p.S478P,PDGFRA:NM_001347830:exon10:c.T1471C:p.S491P,PDGFRA:NM_006206:exon10:c.T1432C:p.S478P,PDGFRA:NM_001347828:exon11:c.T1507C:p.S503P 0.2 0.24 0.24 0.17 0.11 0.23 0.1516 0.2325 0.2998 0.1457 0.1231 0.1027 0.1498 0.2087 0.14 0.23 0.1 0.24 0.057 rs35597368 COSM5008347 4(soft_tissue);2(large_intestine) Benign|Benign|Benign|Benign not_provided|not_specified|Gastrointestinal_stromal_tumor|Idiopathic_hypereosinophilic_syndrome RCV000034716.1|RCV000121780.2|RCV000326887.1|RCV000381487.1 MedGen|MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN221809|CN169374|D046152:C0238198:606764:ORPHA44890|C0206141:607685:ORPHA3260 . . . . . . 0.305 0.142 T 0.0 0.026 B 0.0 0.013 B 0.234 0.035 N 1 0.090 P -0.345 0.033 N -0.95 0.754 T -0.16 0.095 N 0.092 0.091 -1.098 0.043 T 0.000 0.000 T . . . -0.578 0.051 0.142 0.658 0.077 0.007 0.030 N c -1.510 -1.466 1.000 0.409 0.447 0.083 0 0.811 0.178 -1.151 0.033 -0.364 0.068 0.000 0.063 0.000 0.016 6.025 0.188 . . . 0.1538 0.2356 0.2857 0.0586 0.1430 0.1224 0.1054 0.1344 0.2072 0.1473 0.2301 0.2596 0.0497 0.1338 0.1224 0.1024 0.1424 het 2449.79 157 4 55139771 . T C 2449.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.179;DP=157;Dels=0.00;FS=3.994;HRun=3;HaplotypeScore=4.0810;MQ=58.87;MQ0=0;MQRankSum=-1.666;QD=15.60;ReadPosRankSum=0.247;VQSLOD=4.1271;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,96:157:99:2480,0,1511 4 55141055 55141055 A G exonic PDGFRA synonymous SNV PDGFRA:NM_001347827:exon12:c.A1701G:p.P567P,PDGFRA:NM_001347829:exon12:c.A1701G:p.P567P,PDGFRA:NM_001347830:exon12:c.A1740G:p.P580P,PDGFRA:NM_006206:exon12:c.A1701G:p.P567P,PDGFRA:NM_001347828:exon13:c.A1776G:p.P592P 0.96 0.84 0.99 1. 1. 1. 0.9880 0.8821 0.9921 1 0.9998 0.9983 0.9890 0.9996 0.96 0.88 1. 0.92 1. rs1873778 . . Benign|Benign|Benign not_specified|Gastrointestinal_stromal_tumor|Idiopathic_hypereosinophilic_syndrome RCV000250036.1|RCV000281727.1|RCV000385643.1 MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN169374|D046152:C0238198:606764:ORPHA44890|C0206141:607685:ORPHA3260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9903 0.8849 0.9912 0.9947 0.9999 1.0000 0.9982 0.9881 0.9996 0.9677 0.8906 0.9881 0.9834 0.9994 1 0.9986 0.9908 hom 3371.69 106 4 55141055 . A G 3371.69 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=31.81;VQSLOD=9.6119;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3371,280,0 4 55143577 55143577 G A exonic PDGFRA synonymous SNV PDGFRA:NM_001347827:exon13:c.G1809A:p.A603A,PDGFRA:NM_001347829:exon13:c.G1809A:p.A603A,PDGFRA:NM_001347830:exon13:c.G1848A:p.A616A,PDGFRA:NM_006206:exon13:c.G1809A:p.A603A,PDGFRA:NM_001347828:exon14:c.G1884A:p.A628A 0.23 0.34 0.27 0.17 0.11 0.24 0.1583 0.3132 0.3193 0.1485 0.1128 0.0988 0.1487 0.2120 0.17 0.3 0.099 0.29 0.041 rs10028020 COSM4417622 1(haematopoietic_and_lymphoid_tissue);5(soft_tissue);1(skin);2(large_intestine) Benign|Benign|Benign not_specified|Gastrointestinal_stromal_tumor|Idiopathic_hypereosinophilic_syndrome RCV000242800.1|RCV000278036.1|RCV000342427.1 MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN169374|D046152:C0238198:606764:ORPHA44890|C0206141:607685:ORPHA3260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1588 0.3127 0.3016 0.0589 0.1453 0.1119 0.1021 0.1337 0.2107 0.1664 0.3054 0.2763 0.0497 0.1379 0.1125 0.0999 0.1337 het 1256.97 107 4 55143577 . G A 1256.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.433;DP=107;Dels=0.00;FS=0.732;HRun=0;HaplotypeScore=0.9989;MQ=59.22;MQ0=0;MQRankSum=-0.495;QD=11.75;ReadPosRankSum=0.788;VQSLOD=5.8493;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,53:107:99:1287,0,1225 4 55152040 55152040 C T exonic PDGFRA synonymous SNV PDGFRA:NM_001347829:exon18:c.C2472T:p.V824V,PDGFRA:NM_001347830:exon18:c.C2511T:p.V837V,PDGFRA:NM_006206:exon18:c.C2472T:p.V824V,PDGFRA:NM_001347828:exon19:c.C2547T:p.V849V 0.24 0.34 0.28 0.17 0.15 0.24 0.1820 0.3304 0.3296 0.1431 0.1275 0.1350 0.1619 0.2185 0.2 0.31 0.14 0.3 0.098 rs2228230 COSM22413 2(skin);2(large_intestine);2(central_nervous_system);12(haematopoietic_and_lymphoid_tissue);1(endometrium);17(soft_tissue) Benign|Benign|Benign not_specified|Idiopathic_hypereosinophilic_syndrome|Gastrointestinal_stromal_tumor RCV000247800.1|RCV000275201.1|RCV000369832.1 MedGen|MedGen:OMIM:Orphanet|MeSH:MedGen:OMIM:Orphanet CN169374|C0206141:607685:ORPHA3260|D046152:C0238198:606764:ORPHA44890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1824 0.3303 0.3142 0.0743 0.1398 0.1259 0.1416 0.1601 0.2165 0.1941 0.3254 0.3026 0.0633 0.1316 0.1271 0.1392 0.1582 het 2703.24 249 4 55152040 . C T 2703.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.280;DP=249;DS;Dels=0.00;FS=5.419;HRun=1;HaplotypeScore=2.7853;MQ=59.76;MQ0=0;MQRankSum=-0.004;QD=10.86;ReadPosRankSum=-2.198;VQSLOD=4.5925;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:142,107:249:99:2733,0,4109 4 55161391 55161391 T C exonic PDGFRA synonymous SNV PDGFRA:NM_001347829:exon23:c.T3222C:p.D1074D,PDGFRA:NM_001347830:exon23:c.T3261C:p.D1087D,PDGFRA:NM_006206:exon23:c.T3222C:p.D1074D,PDGFRA:NM_001347828:exon24:c.T3297C:p.D1099D 1. 0.99 1. 1. 1. 1. 0.9990 0.9896 0.9998 0.9999 1 1.0000 1 0.9995 1. 0.99 1. 0.99 1. rs7685117 . . Benign|Benign|Benign not_specified|Gastrointestinal_stromal_tumor|Idiopathic_hypereosinophilic_syndrome RCV000243112.1|RCV000344752.1|RCV000403157.1 MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN169374|D046152:C0238198:606764:ORPHA44890|C0206141:607685:ORPHA3260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9992 0.9898 0.9997 1 0.9999 1 0.9999 0.9998 0.9995 0.9980 0.9929 1 1 1 1 1 1 hom 7389.68 247 4 55161391 . T C 7389.68 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0730;MQ=59.10;MQ0=0;QD=29.92;VQSLOD=6.9701;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,247:247:99:7388,617,0 4 56309992 56309992 A G exonic CLOCK synonymous SNV CLOCK:NM_004898:exon20:c.T1764C:p.N588N,CLOCK:NM_001267843:exon21:c.T1764C:p.N588N 0.72 0.75 0.71 0.67 0.65 0.82 0.6958 0.7353 0.7524 0.6889 0.7459 0.6470 0.7048 0.8113 0.66 0.73 0.62 0.76 0.54 rs3736544 COSM1131106 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6962 0.7378 0.7474 0.6597 0.6799 0.7452 0.6412 0.6730 0.8080 0.6942 0.7339 0.7644 0.6324 0.6483 0.7358 0.6645 0.6827 het 1421.98 107 4 56309992 . A G 1421.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.280;DP=107;Dels=0.00;FS=1.628;HRun=0;HaplotypeScore=2.7747;MQ=58.33;MQ0=0;MQRankSum=-1.325;QD=13.29;ReadPosRankSum=0.570;VQSLOD=4.8149;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,52:107:99:1452,0,1373 4 56820412 56820412 G A exonic CEP135 nonsynonymous SNV CEP135:NM_025009:exon4:c.G335A:p.R112H 0.012 0.0015 0.011 . 0.044 0.0082 0.0286 0.0079 0.0123 0 0.0359 0.0425 0.0222 0.0092 0.031 0.0086 0.042 0.022 0.0082 rs77591659 . . Benign not_specified RCV000116675.1 MedGen CN169374 . . . . . . 0.682 0.044 T 0.002 0.090 B 0.001 0.040 B 0.004 0.342 N 1.000 0.090 N -1.285 0.007 N 1.01 0.411 T 1.74 0.007 N 0.004 0.002 -1.052 0.138 T 0.009 0.032 T . . . -0.391 0.062 0.407 0.374 0.024 0.545 0.294 D c -0.992 -0.884 0.991 0.322 0.651 0.465 0 -0.452 0.115 2.080 0.410 0.106 0.201 0.970 0.340 0.886 0.372 5.334 0.151 . . . 0.0288 0.0074 0.0165 0.0278 0 0.0325 0.0437 0.0302 0.0096 0.0281 0.0089 0.0263 0.0298 0.0006 0.0352 0.0407 0.0275 het 748.31 76 4 56820412 . G A 748.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.972;DP=76;Dels=0.00;FS=4.661;HRun=0;HaplotypeScore=6.9657;MQ=58.08;MQ0=0;MQRankSum=0.237;QD=9.85;ReadPosRankSum=-0.132;VQSLOD=4.0804;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,32:76:99:778,0,1102 4 56874517 56874517 A C exonic CEP135 nonsynonymous SNV CEP135:NM_025009:exon18:c.A2305C:p.I769L 0.14 0.087 0.12 0.091 0.27 0.14 0.2095 0.1174 0.1116 0.1017 0.2850 0.2615 0.1807 0.1527 0.21 0.12 0.26 0.15 0.18 rs3214045 . . other not_specified RCV000116668.3 MedGen CN169374 . . . . . . 0.715 0.040 T 0.0 0.026 B 0.0 0.013 B 0.580 0.111 N 1 0.090 P 0.46 0.130 N 2.33 0.165 T 0.33 0.039 N 0.013 0.002 -0.903 0.477 T 0.000 0.000 T . . . -2.628 0.003 0.001 0.361 0.023 0.015 0.048 N c -2.240 -2.193 0.898 0.260 0.651 0.465 0 -6.14 0.019 -0.809 0.046 -4.689 0.000 0.089 0.223 0.004 0.083 7.631 0.272 . . . 0.2075 0.1110 0.1185 0.1887 0.1027 0.2923 0.2633 0.2083 0.1502 0.2066 0.1162 0.1348 0.1755 0.1068 0.2890 0.2536 0.2357 hom 3217.62 116 4 56874517 . A C 3217.62 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.74;VQSLOD=13.7064;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3251,238,0 4 57181629 57181629 C T exonic KIAA1211 nonsynonymous SNV KIAA1211:NM_020722:exon8:c.C1961T:p.P654L 0.2 0.14 0.2 0.25 0.28 0.15 0.2415 0.1643 0.1657 0.2695 0.2300 0.2823 0.2696 0.1679 0.0041 0.0013 0.0055 0.16 0.041 rs61750793 COSM3760670 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.649 0.049 T 0.005 0.119 B 0.002 0.080 B . . . 1.000 0.198 P 1.265 0.321 L 4.66 0.018 T -1.68 0.401 N 0.068 0.055 -0.953 0.405 T 0.000 0.000 T . . . -0.458 0.058 0.279 0.598 0.062 0.250 0.223 N c -1.375 -1.406 0.017 0.129 0.696 0.567 0 -0.764 0.104 0.578 0.233 -2.551 0.002 0.004 0.165 0.000 0.016 4.074 0.093 . ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9 Colon_Transverse|Esophagus_Mucosa|Lung|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.2398 0.1559 0.1703 0.3446 0.2571 0.2363 0.2799 0.2629 0.1705 0.2405 0.1611 0.1874 0.3642 0.2741 0.2340 0.2838 0.2602 het 664.91 45 4 57181629 . C T 664.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.033;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4764;MQ=58.97;MQ0=0;MQRankSum=0.897;QD=14.78;ReadPosRankSum=-1.328;VQSLOD=5.6159;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:695,0,583 4 57181632 57181632 G C exonic KIAA1211 nonsynonymous SNV KIAA1211:NM_020722:exon8:c.G1964C:p.R655P 0.99 0.95 1. 1. 1. 1. 0.9957 0.9474 0.9978 0.9998 1 0.9999 0.9965 1 0.98 0.95 1. 0.97 0.48 rs7672073 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B . . . 1 0.090 P -2.24 0.001 N 4.49 0.021 T 2.59 0.003 N 0.017 0.107 -1.018 0.244 T 0.000 0.000 T . . . 1.408 0.232 12.83 0.313 0.018 0.003 0.014 N c -1.300 -1.177 0.321 0.194 0.696 0.567 0 3.64 0.407 2.958 0.486 -0.028 0.127 0.040 0.208 0.001 0.043 9.632 0.388 . . . 0.9964 0.9466 0.9982 1 0.9998 1 0.9999 0.9981 0.9998 0.9848 0.9465 0.9976 1 1 1 1 0.9980 hom 1490.29 45 4 57181632 . G C 1490.29 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=3.4764;MQ=58.97;MQ0=0;QD=33.12;VQSLOD=8.2130;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1523,120,0 4 57181995 57181995 C T exonic KIAA1211 nonsynonymous SNV KIAA1211:NM_020722:exon8:c.C2327T:p.S776L 0.24 0.2 0.23 0.25 0.34 0.19 0.2959 0.2248 0.1908 0.2639 0.2562 0.3505 0.3218 0.2227 0.3 0.22 0.34 0.22 0.3 rs3796547 COSM149674 1(stomach);1(large_intestine) . . . . . . . . . . . 0.554 0.073 T 0.049 0.208 B 0.007 0.121 B . . . 1 0.090 P -0.895 0.014 N 2.85 0.106 T 1.01 0.014 N 0.029 0.059 -0.901 0.479 T 0.000 0.000 T . . . 1.845 0.283 15.25 0.912 0.198 0.011 0.040 N c -1.627 -1.645 0.052 0.149 0.706 0.609 0 -5.82 0.021 -0.456 0.068 -0.328 0.075 0.000 0.063 0.023 0.138 10.304 0.427 . ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9 Colon_Transverse|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Whole_Blood 0.2963 0.2252 0.1991 0.4260 0.2561 0.2677 0.3533 0.3202 0.2288 0.3026 0.2388 0.2196 0.4636 0.2737 0.2640 0.3526 0.3125 hom 2142.75 64 4 57181995 . C T 2142.75 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;QD=33.48;VQSLOD=9.2988;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2176,178,0 4 57182647 57182647 G A exonic KIAA1211 synonymous SNV KIAA1211:NM_020722:exon8:c.G2979A:p.A993A 0.19 0.017 0.21 0.25 0.34 0.19 0.2795 0.0645 0.1805 0.2644 0.2630 0.3460 0.2993 0.2203 0.25 0.074 0.34 0.15 0.12 rs3822003 COSM3760671 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2793 0.0605 0.1868 0.4068 0.2552 0.2670 0.3469 0.3032 0.2243 0.2491 0.0665 0.1998 0.4371 0.2708 0.2646 0.3450 0.3016 hom 1755.54 54 4 57182647 . G A 1755.54 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=32.51;VQSLOD=9.7577;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1789,135,0 4 57182758 57182758 C T exonic KIAA1211 synonymous SNV KIAA1211:NM_020722:exon8:c.C3090T:p.D1030D 0.23 0.14 0.22 0.25 0.34 0.19 0.2973 0.1782 0.1915 0.2689 0.2642 0.3573 0.3240 0.2257 0.29 0.17 0.34 0.21 0.14 rs28559894 COSM447967 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2922 0.1668 0.1965 0.4274 0.2555 0.2681 0.3537 0.3192 0.2289 0.2843 0.1746 0.2160 0.46 0.2707 0.2652 0.3524 0.3133 hom 1447.84 44 4 57182758 . C T 1447.84 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=32.91;VQSLOD=8.6806;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1481,126,0 4 57796639 57796639 T C exonic REST nonsynonymous SNV REST:NM_001193508:exon4:c.T1615C:p.S539P,REST:NM_005612:exon4:c.T1615C:p.S539P 0.0026 . 0.0029 . 0.0099 0.001 0.0080 0.0025 0.0049 0 0.0012 0.0120 0.0023 0.0043 0.012 0.0023 0.017 0.011 0.016 rs61748754 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.185 0.170 N 1 0.090 N -1.685 0.004 N 0.84 0.475 T 1.74 0.006 N 0.024 0.007 -1.025 0.221 T 0.014 0.054 T . . . -0.993 0.032 0.016 0.060 0.000 0.010 0.038 N c -1.353 -1.197 0.997 0.351 0.732 0.924 0 3.75 0.421 0.560 0.230 -0.025 0.128 0.000 0.063 0.908 0.386 5.161 0.143 . . . 0.0083 0.0027 0.0055 0.0062 0 0.0014 0.0138 0.0081 0.0041 0.0081 0.0034 0.0048 0.0066 0 0.0017 0.0137 0.0041 het 760.07 48 4 57796639 . T C 760.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.900;DP=48;Dels=0.00;FS=4.200;HRun=1;HaplotypeScore=3.9618;MQ=56.66;MQ0=0;MQRankSum=0.021;QD=15.83;ReadPosRankSum=0.190;VQSLOD=2.6156;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,29:48:99:790,0,528 4 57839405 57839405 T C exonic NOA1 nonsynonymous SNV NOA1:NM_032313:exon3:c.A1424G:p.H475R 0.0002 . . . 0.001 . 0.0001 0 0 0 0 0.0002 0 0 0.0002 . 0.0002 . . rs199906201 . . . . . . . . . . . . . 0.533 0.069 T 0.0 0.026 B 0.0 0.013 B 0.002 0.009 N 1 0.090 N -1.67 0.004 N 1.59 0.288 T 0.33 0.039 N 0.018 0.004 -1.012 0.264 T 0.033 0.142 T 0.006 0.155 T -2.512 0.003 0.001 0.556 0.053 0.291 0.235 N c -1.630 -1.603 1.000 0.437 0.707 0.730 0 -3.37 0.046 -0.306 0.082 -1.783 0.007 0.000 0.063 0.000 0.016 11.351 0.486 Circularly permuted (CP)-type guanine nucleotide-binding (G) domain|P-loop containing nucleoside triphosphate hydrolase . . 0.0001 0.0001 0 0 0 0 0.0003 0.0002 0 0.0001 0 0 0 0 0 0.0003 0 het 3202.46 239 4 57839405 . T C 3202.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.239;DP=239;DS;Dels=0.00;FS=2.885;HRun=0;HaplotypeScore=4.5348;MQ=59.28;MQ0=0;MQRankSum=2.578;QD=13.40;ReadPosRankSum=0.360;VQSLOD=3.0816;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:117,122:239:99:3232,0,2985 4 57843114 57843114 C G exonic NOA1 nonsynonymous SNV NOA1:NM_032313:exon1:c.G638C:p.G213A 0.0064 0.0008 0.0058 . 0.021 0.0061 0.0155 0.0038 0.0022 0 0.0330 0.0218 0.0203 0.0080 0.0092 0.0021 0.013 0.011 . rs200929636 . . . . . . . . . . . . . 0.181 0.219 T 0.435 0.339 B 0.057 0.248 B 0.107 0.196 N 0.994 0.423 D 1.545 0.392 L 1.52 0.307 T -0.11 0.087 N 0.049 0.030 -1.099 0.042 T 0.019 0.079 T . . . 0.290 0.122 5.601 0.655 0.076 0.264 0.227 N c -0.427 -0.395 1.000 0.747 0.442 0.072 0 4.52 0.546 1.001 0.292 0.860 0.375 0.005 0.169 0.398 0.254 8.477 0.320 Circularly permuted (CP)-type guanine nucleotide-binding (G) domain . . 0.0141 0.0029 0.0026 0.0041 0 0.0299 0.0220 0.0117 0.0079 0.0149 0.0038 0.0012 0.0033 0 0.0270 0.0208 0.0194 het 635.34 54 4 57843114 . C G 635.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.010;DP=54;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.6573;MQ=59.54;MQ0=0;MQRankSum=0.831;QD=11.77;ReadPosRankSum=0.331;VQSLOD=4.8676;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,26:54:99:665,0,592 4 57843320 57843320 A G exonic NOA1 synonymous SNV NOA1:NM_032313:exon1:c.T432C:p.C144C 1. 1. 1. 1. 1. 1. 0.9999 0.9993 0.9995 0.9994 1 1.0000 1 0.9999 . . . 0.56 0.38 rs4865167 COSM3749879 9(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1.0000 1 1 1 1.0000 1 1.0000 1 1 1 1 1 1 1 1 hom 401.93 13 4 57843320 . A G 401.93 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=30.92;VQSLOD=8.1554;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:435,36,0 4 57889677 57889677 C T exonic POLR2B synonymous SNV POLR2B:NM_001303268:exon18:c.C2472T:p.S824S,POLR2B:NM_000938:exon19:c.C2697T:p.S899S,POLR2B:NM_001303269:exon20:c.C2676T:p.S892S 0.55 0.46 0.64 0.68 0.58 0.44 0.5720 0.4687 0.6687 0.7108 0.5980 0.5682 0.5738 0.5011 0.55 0.49 0.58 0.73 0.54 rs1056364 COSM1131099 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5812 0.4701 0.6605 0.5555 0.7120 0.5940 0.5737 0.5675 0.5049 0.5570 0.4744 0.6244 0.58 0.6991 0.5948 0.5768 0.5551 hom 4616.04 148 4 57889677 . C T 4616.04 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8317;MQ=59.05;MQ0=0;QD=31.19;VQSLOD=9.7075;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:148:99:4615,373,0 4 62598689 62598689 C T exonic ADGRL3 synonymous SNV ADGRL3:NM_001322246:exon7:c.C612T:p.H204H,ADGRL3:NM_015236:exon7:c.C612T:p.H204H,ADGRL3:NM_001322402:exon8:c.C816T:p.H272H 0.79 0.89 0.77 0.95 0.62 0.68 0.6811 0.8645 0.7901 0.9387 0.6620 0.6023 0.6920 0.6870 0.69 0.86 0.6 0.79 . rs10434219 COSM1131097;COSM1131096;COSM1131098;COSM5019164 19(soft_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6852 0.8692 0.7846 0.6546 0.9401 0.6550 0.5971 0.6829 0.6927 0.7076 0.8564 0.7644 0.6291 0.9389 0.6582 0.6084 0.6691 het 799.99 78 4 62598689 . C T 799.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.329;DP=78;Dels=0.00;FS=3.020;HRun=0;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;MQRankSum=-0.077;QD=10.26;ReadPosRankSum=0.262;VQSLOD=5.7932;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,34:78:99:830,0,1219 4 62758491 62758491 G A exonic ADGRL3 nonsynonymous SNV ADGRL3:NM_001322246:exon9:c.G1394A:p.R465Q,ADGRL3:NM_015236:exon9:c.G1394A:p.R465Q,ADGRL3:NM_001322402:exon10:c.G1598A:p.R533Q 0.0058 . 0.0014 0.001 0.016 0.011 0.0118 0.0020 0.0032 0 0.0044 0.0174 0.0078 0.0102 0.011 0.003 0.015 . . rs35106420 COSM1495849;COSM1495848;COSM1495847 1(kidney) . . . . . . . . . . . 0.4 0.162 T 0.684 0.520 P 0.045 0.387 B 0.003 0.360 N 0.928 0.369 D 0 0.065 N -0.25 0.670 T -1.1 0.312 N 0.274 0.370 -0.914 0.463 T 0.085 0.331 T . . . 2.801 0.398 21.4 0.994 0.648 0.945 0.612 D c 0.035 0.158 0.020 0.132 0.615 0.372 0 4.98 0.655 4.802 0.620 1.048 0.713 1.000 0.715 0.998 0.697 16.027 0.803 . . . 0.0108 0.0024 0.0042 0.0041 0 0.0057 0.0172 0.0115 0.0104 0.0085 0.0018 0.0024 0.0033 0 0.0066 0.0141 0.0103 het 2243.74 155 4 62758491 . G A 2243.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.875;DP=155;Dels=0.00;FS=0.657;HRun=0;HaplotypeScore=4.8748;MQ=59.29;MQ0=0;MQRankSum=-1.710;QD=14.48;ReadPosRankSum=-0.243;VQSLOD=4.0100;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,79:155:99:2274,0,1981 4 62800728 62800728 T C exonic ADGRL3 synonymous SNV ADGRL3:NM_001322246:exon13:c.T2079C:p.N693N,ADGRL3:NM_015236:exon13:c.T2079C:p.N693N,ADGRL3:NM_001322402:exon14:c.T2283C:p.N761N 0.68 0.8 0.62 0.59 0.73 0.61 0.7025 0.7931 0.5535 0.6096 0.7487 0.7400 0.7294 0.6292 0.77 0.8 0.75 0.71 . rs734644 COSM4003107;COSM4003109;COSM4415815;COSM4003108 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6951 0.7968 0.5659 0.6784 0.6070 0.7441 0.7436 0.7150 0.6251 0.7478 0.7994 0.5835 0.7233 0.6149 0.7453 0.7438 0.7248 hom 2523.43 83 4 62800728 . T C 2523.43 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=30.40;VQSLOD=9.1940;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2556,196,0 4 62845388 62845388 G C exonic ADGRL3 synonymous SNV ADGRL3:NM_001322246:exon17:c.G2709C:p.R903R,ADGRL3:NM_015236:exon17:c.G2709C:p.R903R,ADGRL3:NM_001322402:exon18:c.G2913C:p.R971R 0.82 0.65 0.92 0.84 0.94 0.81 0.8888 0.6878 0.8923 0.8128 0.9162 0.9397 0.8911 0.8284 0.87 0.71 0.95 0.84 . rs1397547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8929 0.6894 0.8948 0.9210 0.8090 0.9148 0.9433 0.9120 0.8277 0.8595 0.7035 0.8935 0.9338 0.8085 0.9073 0.9388 0.8908 hom 7710.89 250 4 62845388 . G C 7710.89 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.662;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9826;MQ=59.30;MQ0=0;MQRankSum=1.296;QD=30.84;ReadPosRankSum=0.775;VQSLOD=5.4768;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7709,659,0 4 62845490 62845490 A G exonic ADGRL3 synonymous SNV ADGRL3:NM_001322246:exon17:c.A2811G:p.P937P,ADGRL3:NM_015236:exon17:c.A2811G:p.P937P,ADGRL3:NM_001322402:exon18:c.A3015G:p.P1005P 0.5 0.35 0.57 0.39 0.74 0.51 0.6273 0.4060 0.4647 0.3871 0.7007 0.7354 0.6707 0.5285 0.65 0.43 0.75 0.51 . rs1397548 COSM4003113;COSM4003115;COSM4415971;COSM4003114 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6260 0.4083 0.4867 0.6870 0.3843 0.6950 0.7417 0.6745 0.5254 0.6169 0.4187 0.5191 0.7152 0.3933 0.6998 0.7371 0.6704 hom 5248.53 162 4 62845490 . A G 5248.53 Mask AC=2;AF=1.00;AN=2;DP=162;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4408;MQ=58.35;MQ0=0;QD=32.40;VQSLOD=6.7810;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5248,409,0 4 66197804 66197804 C T exonic EPHA5 synonymous SNV EPHA5:NM_001281766:exon16:c.G2832A:p.G944G,EPHA5:NM_182472:exon16:c.G2829A:p.G943G,EPHA5:NM_001281765:exon17:c.G2898A:p.G966G,EPHA5:NM_001281767:exon17:c.G2898A:p.G966G,EPHA5:NM_001318761:exon17:c.G2691A:p.G897G,EPHA5:NM_004439:exon17:c.G2895A:p.G965G 0.33 0.089 0.31 0.46 0.37 0.47 0.3465 0.1293 0.2889 0.4200 0.3549 0.3588 0.3404 0.4322 0.28 0.14 0.36 0.26 0.35 rs7349683 COSM5619001 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3459 0.1239 0.2934 0.3425 0.4214 0.3442 0.3573 0.3415 0.4318 0.2977 0.1274 0.2888 0.3411 0.4289 0.3329 0.3694 0.3796 het 351.19 24 4 66197804 . C T 351.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.217;DP=24;Dels=0.00;FS=4.084;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.579;QD=14.63;ReadPosRankSum=-1.159;VQSLOD=6.0924;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,13:24:99:381,0,260 4 68374597 68374597 C T exonic CENPC synonymous SNV CENPC:NM_001812:exon10:c.G1839A:p.S613S 0.7 0.62 0.75 0.83 0.63 0.72 0.6546 0.6289 0.8130 0.8168 0.5861 0.6094 0.6578 0.6857 0.61 0.64 0.6 0.76 . rs1056789 COSM4415593 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6580 0.6290 0.8040 0.6474 0.8179 0.5741 0.6051 0.6521 0.6806 0.6150 0.6360 0.7572 0.6755 0.8240 0.5696 0.5803 0.6370 het 775.12 69 4 68374597 . C T 775.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DP=69;Dels=0.00;FS=4.978;HRun=0;HaplotypeScore=0.5784;MQ=58.44;MQ0=0;MQRankSum=0.067;QD=11.23;ReadPosRankSum=0.127;VQSLOD=5.1540;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,30:69:99:805,0,1084 4 68380070 68380070 C T exonic CENPC nonsynonymous SNV CENPC:NM_001812:exon8:c.G1166A:p.G389D 0.025 0.0045 0.052 . 0.075 0.0061 0.0632 0.0154 0.0382 0 0.0567 0.0961 0.0528 0.0123 0.068 0.018 0.09 0.043 . rs1056787 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.876 0.072 N 1.000 0.090 P -0.405 0.030 N . . . 1.79 0.005 N 0.021 0.011 -1.008 0.274 T 0.002 0.005 T . . . -0.868 0.037 0.030 0.373 0.024 0.006 0.026 N c -1.329 -1.243 0.013 0.125 0.707 0.730 0 2.17 0.266 0.294 0.187 0.076 0.183 0.320 0.253 0.327 0.242 4.465 0.110 CENP-C\x2c middle DNMT3B-binding domain ENSG00000145241.6|ENSG00000145241.6|ENSG00000145241.6|ENSG00000145241.6|ENSG00000145241.6|ENSG00000145241.6 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.0577 0.0139 0.0369 0.0500 0 0.0535 0.0928 0.0665 0.0114 0.0540 0.0177 0.0513 0.0397 0 0.0665 0.0778 0.0631 het 354.10 31 4 68380070 . C T 354.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.143;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.79;MQ0=0;MQRankSum=1.364;QD=11.42;ReadPosRankSum=-1.759;VQSLOD=5.6881;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,15:31:99:384,0,405 4 68380215 68380215 G A exonic CENPC nonsynonymous SNV CENPC:NM_001812:exon8:c.C1021T:p.L341F 0.7 0.62 0.75 0.83 0.63 0.72 0.6572 0.6326 0.8143 0.8171 0.5866 0.6123 0.6595 0.6881 0.61 0.63 0.6 0.77 . rs11250 COSM4415927 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.115 0.285 T 0.971 0.552 D 0.641 0.503 P 0.762 0.096 N 1 0.090 P 1.7 0.440 L . . . -1.37 0.340 N 0.057 0.056 -0.952 0.406 T 0.000 0.000 T . . . 0.358 0.129 6.241 0.990 0.501 0.053 0.110 N c -0.458 -0.603 0.004 0.105 0.707 0.730 0 2.53 0.295 0.550 0.229 1.045 0.669 0.005 0.169 0.266 0.231 4.593 0.116 CENP-C\x2c middle DNMT3B-binding domain ENSG00000145241.6|ENSG00000145241.6|ENSG00000250075.1|ENSG00000035720.3 Cells_Transformed_fibroblasts|Nerve_Tibial|Pancreas|Testis 0.6580 0.6289 0.8039 0.6470 0.8176 0.5735 0.6050 0.6515 0.6814 0.6152 0.6361 0.7566 0.68 0.8234 0.5693 0.5807 0.6357 het 370.29 29 4 68380215 . G A 370.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.633;DP=29;Dels=0.00;FS=1.637;HRun=2;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=1.331;QD=12.77;ReadPosRankSum=-0.938;VQSLOD=6.2662;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,15:29:99:400,0,395 4 68384008 68384008 C T exonic CENPC synonymous SNV CENPC:NM_001812:exon7:c.G696A:p.S232S 0.7 0.63 0.76 0.83 0.63 0.72 0.6176 0.6061 0.6810 0.7423 0.5587 0.5836 0.6395 0.6708 0.61 0.63 0.59 0.77 . rs355510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6385 0.6081 0.7884 0.6411 0.8004 0.5583 0.5751 0.6410 0.6639 0.6193 0.6495 0.7596 0.6755 0.8247 0.5699 0.5808 0.6380 het 147.50 19 4 68384008 . C T 147.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.359;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.482;QD=7.76;ReadPosRankSum=0.307;VQSLOD=10.5189;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,6:19:99:177,0,343 4 68442968 68442968 A G exonic STAP1 synonymous SNV STAP1:NM_001317769:exon4:c.A354G:p.T118T,STAP1:NM_012108:exon4:c.A354G:p.T118T 0.4 0.46 0.4 0.17 0.58 0.36 0.5180 0.4729 0.2982 0.1881 0.5795 0.6296 0.5122 0.3969 0.59 0.48 0.64 0.38 0.53 rs11556614 COSM3760695 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5083 0.4708 0.3094 0.5907 0.1825 0.5855 0.6283 0.5523 0.3934 0.5466 0.4814 0.3915 0.5728 0.1796 0.5959 0.6213 0.5421 hom 1841.85 65 4 68442968 . A G 1841.85 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.65;MQ0=0;QD=28.34;VQSLOD=8.1803;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1875,144,0 4 68447040 68447040 C T exonic STAP1 synonymous SNV STAP1:NM_001317769:exon5:c.C381T:p.N127N,STAP1:NM_012108:exon5:c.C381T:p.N127N 0.13 0.11 0.16 0.005 0.25 0.12 0.1923 0.1360 0.1160 0.0013 0.1752 0.2603 0.1759 0.1131 0.22 0.14 0.27 0.14 0.21 rs11556615 COSM3760696 1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1874 0.1331 0.1246 0.2297 0.0016 0.1752 0.2598 0.2276 0.1109 0.1854 0.1502 0.1539 0.2583 0.0019 0.1756 0.2278 0.1906 het 1518.59 156 4 68447040 . C T 1518.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.574;DP=156;Dels=0.00;FS=3.067;HRun=0;HaplotypeScore=1.5592;MQ=59.19;MQ0=0;MQRankSum=-0.013;QD=9.73;ReadPosRankSum=0.215;VQSLOD=6.5285;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,62:156:99:1549,0,2382 4 68562365 68562365 A G exonic UBA6 synonymous SNV UBA6:NM_018227:exon2:c.T132C:p.Y44Y 0.18 0.19 0.23 0.17 0.26 0.082 0.2209 0.2010 0.2140 0.1777 0.2528 0.2563 0.2239 0.1047 0.24 0.2 0.26 0.23 0.2 rs17572160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2187 0.1993 0.2074 0.2078 0.1796 0.2508 0.2554 0.2252 0.1037 0.2289 0.2107 0.2112 0.2649 0.1766 0.2644 0.2389 0.2035 het 953.90 84 4 68562365 . A G 953.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.772;DP=84;Dels=0.00;FS=3.042;HRun=0;HaplotypeScore=1.7860;MQ=59.45;MQ0=0;MQRankSum=0.598;QD=11.36;ReadPosRankSum=-0.598;VQSLOD=6.6730;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,38:84:99:984,0,1159 4 68780399 68780399 A G exonic TMPRSS11A synonymous SNV TMPRSS11A:NM_001114387:exon9:c.T1002C:p.D334D,TMPRSS11A:NM_182606:exon9:c.T1011C:p.D337D 0.48 0.32 0.43 0.66 0.53 0.52 0.5341 0.3436 0.4683 0.6727 0.5871 0.5586 0.5264 0.5080 0.5 0.36 0.57 0.47 0.57 rs1371932 COSM3760697 5(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5352 0.3362 0.4639 0.4828 0.6727 0.5952 0.5630 0.5175 0.5094 0.5184 0.3477 0.4435 0.4570 0.6660 0.5893 0.5860 0.5874 het 1355.32 140 4 68780399 . A G 1355.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.665;DP=140;Dels=0.00;FS=1.372;HRun=0;HaplotypeScore=0.8667;MQ=58.23;MQ0=0;MQRankSum=-0.171;QD=9.68;ReadPosRankSum=0.705;VQSLOD=5.5067;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,60:140:99:1385,0,1982 4 68784774 68784774 T C exonic TMPRSS11A nonsynonymous SNV TMPRSS11A:NM_001114387:exon8:c.A869G:p.Q290R,TMPRSS11A:NM_182606:exon8:c.A878G:p.Q293R 0.73 0.86 0.58 0.82 0.63 0.67 0.6779 0.8276 0.5444 0.8299 0.6564 0.6674 0.6487 0.6501 0.74 0.84 0.68 0.74 0.75 rs353163 COSM4003117 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.497 N 1 0.090 P . . . -3.09 0.926 D 3.2 0.001 N 0.024 0.010 -0.930 0.442 T 0.000 0.000 T . . . -1.235 0.024 0.006 0.539 0.049 0.015 0.049 N c -1.001 -0.962 0.000 0.035 0.487 0.133 0 4.51 0.544 1.045 0.297 0.040 0.155 0.003 0.159 0.432 0.259 8.063 0.296 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000229009.3 Testis 0.6702 0.8313 0.5492 0.6146 0.8257 0.6628 0.6737 0.6402 0.6505 0.7336 0.8292 0.5467 0.5833 0.8249 0.6655 0.6997 0.6994 het 1893.42 151 4 68784774 . T C 1893.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.159;DP=151;DS;Dels=0.00;FS=0.626;HRun=1;HaplotypeScore=3.6985;MQ=59.57;MQ0=0;MQRankSum=-0.041;QD=12.54;ReadPosRankSum=-0.222;VQSLOD=6.0225;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,74:151:99:1923,0,2112 4 68810346 68810346 T C exonic TMPRSS11A nonsynonymous SNV TMPRSS11A:NM_001114387:exon3:c.A143G:p.K48R,TMPRSS11A:NM_182606:exon3:c.A143G:p.K48R 0.012 . 0.0086 0.003 0.022 0.029 0.0200 0.0038 0.0100 0.0007 0.0107 0.0256 0.0191 0.0282 0.013 0.003 0.019 0.011 . rs139010197 . . . . . . . . . . . . . 0.583 0.061 T 0.02 0.170 B 0.03 0.205 B 0.254 0.154 N 1 0.090 N 0 0.065 N 1.13 0.386 T -0.38 0.134 N 0.028 0.009 -1.025 0.220 T 0.020 0.084 T . . . -1.429 0.019 0.003 0.624 0.068 0.190 0.203 N c -1.165 -1.104 0.000 0.012 0.487 0.133 0 -1.35 0.086 0.353 0.197 -0.119 0.114 0.988 0.363 0.055 0.167 4.270 0.102 SEA domain . . 0.0190 0.0034 0.0102 0.0327 0.0004 0.0103 0.0250 0.0195 0.0274 0.0154 0.0040 0.0096 0.0331 0 0.0103 0.0242 0.0245 het 413.77 20 4 68810346 . T C 413.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.634;DP=20;Dels=0.00;FS=5.684;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.079;QD=20.69;ReadPosRankSum=-1.506;VQSLOD=2.6128;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,13:20:99:444,0,149 4 68812283 68812283 C T exonic TMPRSS11A synonymous SNV TMPRSS11A:NM_001114387:exon2:c.G18A:p.V6V,TMPRSS11A:NM_182606:exon2:c.G18A:p.V6V 0.62 0.25 0.6 0.81 0.78 0.78 0.7371 0.3065 0.5544 0.8238 0.7820 0.8120 0.7428 0.7695 0.66 0.34 0.83 0.53 0.76 rs11930532 COSM4003118 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7392 0.3014 0.5568 0.7929 0.8240 0.7842 0.8177 0.7357 0.7693 0.6761 0.3099 0.6074 0.7815 0.8242 0.7923 0.8399 0.7980 hom 1166.84 38 4 68812283 . C T 1166.84 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=30.71;VQSLOD=9.5231;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:96.29:1200,96,0 4 68995529 68995529 C T exonic TMPRSS11F nonsynonymous SNV TMPRSS11F:NM_207407:exon1:c.G10A:p.A4T 0.33 0.32 0.21 0.46 0.28 0.34 0.2981 0.3702 0.1746 0.4944 0.2990 0.2729 0.2841 0.3385 0.31 0.37 0.28 0.25 0.26 rs10030708 . . . . . . . . . . . . . 0.206 0.199 T 0.905 0.479 P 0.161 0.331 B 0.065 0.022 N 0.911 0.275 P 0 0.065 N -2.4 0.885 D 0.05 0.064 N 0.092 0.091 -0.983 0.344 T 0.000 0.000 T . . . 2.121 0.316 16.99 0.969 0.310 0.365 0.253 N c -0.531 -0.488 1.000 0.473 0.487 0.133 0 1.66 0.230 0.133 0.156 0.013 0.140 0.864 0.304 0.990 0.544 3.955 0.088 . ENSG00000229009.3 Esophagus_Mucosa 0.2937 0.3669 0.1804 0.2672 0.5012 0.2925 0.2766 0.2683 0.3406 0.3218 0.3701 0.1947 0.2550 0.5236 0.3057 0.2859 0.2943 hom 2919.74 99 4 68995529 . C T 2919.74 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=29.49;VQSLOD=8.6582;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2953,235,0 4 69094507 69094507 T A exonic TMPRSS11B nonsynonymous SNV TMPRSS11B:NM_182502:exon9:c.A1042T:p.T348S 0.72 0.43 0.6 0.99 0.73 0.9 0.7564 0.5121 0.5351 0.9956 0.8272 0.7684 0.7346 0.8641 0.69 0.52 0.78 0.61 0.7 rs2319797 . . . . . . . . . . . . . 0.442 0.092 T 0.316 0.311 B 0.076 0.269 B 0.329 0.141 N 1 0.090 P -0.035 0.050 N -3.04 0.924 D -0.56 0.170 N 0.078 0.069 -0.995 0.312 T 0.000 0.000 T . . . -0.632 0.048 0.104 0.507 0.044 0.073 0.131 N c -1.141 -1.159 0.000 0.029 0.554 0.246 0 0.489 0.160 -0.055 0.117 0.071 0.179 0.000 0.063 0.001 0.043 2.672 0.047 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000227725.2|ENSG00000187054.10|ENSG00000229009.3 Esophagus_Mucosa|Esophagus_Mucosa|Testis 0.7535 0.5077 0.5508 0.7017 0.9954 0.8264 0.7722 0.7182 0.8632 0.7271 0.5156 0.5925 0.6722 0.9914 0.8357 0.7998 0.8031 het 1612.34 124 4 69094507 . T A 1612.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.990;DP=124;Dels=0.00;FS=0.670;HRun=1;HaplotypeScore=2.8052;MQ=57.58;MQ0=0;MQRankSum=0.784;QD=13.00;ReadPosRankSum=0.378;VQSLOD=4.3363;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,66:124:99:1642,0,1372 4 69094575 69094575 T G exonic TMPRSS11B nonsynonymous SNV TMPRSS11B:NM_182502:exon9:c.A974C:p.D325A 0.99 0.98 1. 1. 1. 1. 0.9988 0.9873 0.9997 1 1 0.9999 1 1 1. 0.99 1. 1. 0.98 rs2319796 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.424 N 1.000 0.197 P -1.825 0.003 N -2.84 0.913 D 4.83 0.000 N 0.057 0.040 -0.909 0.471 T 0.000 0.000 T . . . 0.731 0.164 9.028 0.823 0.136 0.014 0.047 N c -1.127 -0.800 0.001 0.077 0.487 0.133 0 4.62 0.568 3.960 0.562 0.127 0.214 1.000 0.715 0.337 0.244 12.314 0.541 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9991 0.9880 0.9995 1 1 1 0.9999 0.9993 1.0000 0.9964 0.9874 0.9988 1 1 1 1 0.9990 hom 2543.72 83 4 69094575 . T G 2543.72 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.16;MQ0=0;QD=30.65;VQSLOD=9.1822;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2577,199,0 4 69095197 69095197 T C exonic TMPRSS11B nonsynonymous SNV TMPRSS11B:NM_182502:exon8:c.A724G:p.I242V 0.72 0.43 0.6 0.99 0.73 0.9 0.7564 0.5127 0.5343 0.9955 0.8271 0.7684 0.7340 0.8631 0.69 0.52 0.78 0.61 0.68 rs12331141 . . . . . . . . . . . . . 0.615 0.054 T 0.003 0.102 B 0.008 0.127 B 0.482 0.122 N 1 0.090 P -0.28 0.037 N -2.44 0.888 D 0.34 0.038 N 0.058 0.041 -1.000 0.301 T 0.000 0.000 T . . . -1.402 0.019 0.003 0.675 0.081 0.688 0.337 D c -0.894 -0.849 0.000 0.044 0.487 0.133 0 0.639 0.168 1.521 0.353 1.049 0.752 0.928 0.320 0.451 0.263 4.989 0.135 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000227725.2|ENSG00000187054.10|ENSG00000229009.3 Esophagus_Mucosa|Esophagus_Mucosa|Testis 0.7533 0.5078 0.5506 0.7017 0.9952 0.8266 0.7721 0.7178 0.8622 0.7268 0.5145 0.5885 0.6722 0.9907 0.8357 0.7999 0.8027 het 1100.34 88 4 69095197 . T C 1100.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.003;DP=88;Dels=0.00;FS=2.905;HRun=0;HaplotypeScore=0.8667;MQ=59.58;MQ0=0;MQRankSum=-0.209;QD=12.50;ReadPosRankSum=-2.671;VQSLOD=5.5131;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,45:88:99:1130,0,1159 4 69203551 69203551 A T exonic YTHDC1 synonymous SNV YTHDC1:NM_001031732:exon3:c.T198A:p.S66S,YTHDC1:NM_001330698:exon3:c.T198A:p.S66S,YTHDC1:NM_133370:exon3:c.T198A:p.S66S 0.99 0.98 1. 1. 1. 1. 0.9978 0.9791 0.9984 1 1 0.9996 0.9978 0.9999 0.99 0.98 1. 0.98 . rs10213623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9805 0.9983 0.9963 1 1 0.9998 0.9989 1.0000 0.9947 0.9817 0.9988 1 1 1 0.9999 1 hom 3454.46 114 4 69203551 . A T 3454.46 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.90;MQ0=0;QD=30.30;VQSLOD=8.0856;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3454,268,0 4 69337325 69337325 C G exonic TMPRSS11E nonsynonymous SNV TMPRSS11E:NM_014058:exon5:c.C474G:p.H158Q 0.093 0.12 0.078 0.004 0.16 0.091 0.1180 0.1128 0.0579 0.0012 0.1519 0.1424 0.1092 0.1132 0.13 0.11 0.14 0.076 . rs2603188 COSM3760698 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.245 0.174 T 0.0 0.026 B 0.0 0.013 B 0.487 0.121 N 1 0.090 P 0 0.065 N 1.46 0.322 T 0.7 0.022 N 0.011 0.001 -1.019 0.239 T 0.000 0.001 T . . . -0.870 0.037 0.030 0.438 0.033 0.005 0.024 N c -2.152 -2.209 0.956 0.282 0.554 0.246 0 -10.9 0.002 -1.889 0.017 -1.524 0.010 0.000 0.063 0.622 0.293 9.709 0.392 SEA domain . . 0.1155 0.1106 0.0615 0.1121 0.0006 0.1526 0.1429 0.1283 0.1057 0.1240 0.1086 0.0707 0.0993 0.0012 0.1646 0.1384 0.1524 het 1795.62 125 4 69337325 . C G 1795.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.892;DP=125;Dels=0.00;FS=0.745;HRun=0;HaplotypeScore=0.7887;MQ=59.48;MQ0=0;MQRankSum=0.022;QD=14.36;ReadPosRankSum=1.267;VQSLOD=5.7489;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,64:125:99:1826,0,1606 4 69433714 69433714 C T exonic UGT2B17 synonymous SNV UGT2B17:NM_001077:exon1:c.G489A:p.E163E 0.28 0.33 0.48 0.048 0.35 0.25 0.4171 0.3297 0.6273 0.0112 0.4914 0.4217 0.4290 0.3413 0.39 0.34 0.42 0.21 0.46 rs34664906 COSM3760700 1(lung);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4285 0.3238 0.6077 0.4240 0.0101 0.4961 0.4197 0.4294 0.3425 0.4106 0.3119 0.5413 0.4593 0.0208 0.5133 0.4501 0.4661 hom 6136.25 207 4 69433714 . C T 6136.25 Mask AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=56.79;MQ0=0;QD=29.64;VQSLOD=6.1691;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,207:207:99:6135,481,0 4 69512847 69512847 T G exonic UGT2B15 nonsynonymous SNV UGT2B15:NM_001076:exon6:c.A1568C:p.K523T 0.37 0.13 0.5 0.19 0.64 0.51 0.5459 0.1971 0.5544 0.1706 0.6294 0.6444 0.5331 0.5246 0.49 0.22 0.63 0.34 . rs4148269 COSM5037350 1(oesophagus) . . . . . . . . . . . 0.996 0.019 T 0.0 0.026 B 0.0 0.013 B 0.420 0.129 N 1 0.090 P 0.045 0.081 N 0.16 0.606 T 1.84 0.005 N 0.059 0.043 -0.927 0.446 T 0.000 0.000 T . . . -1.206 0.025 0.006 0.154 0.004 0.025 0.068 N c -1.429 -1.467 0.000 0.012 0.487 0.133 0 -0.317 0.120 -1.611 0.021 -3.223 0.001 0.000 0.063 0.000 0.016 5.494 0.160 . . . 0.5510 0.1878 0.5551 0.6064 0.1729 0.6274 0.6450 0.5698 0.5225 0.4921 0.2094 0.5383 0.5993 0.1761 0.6368 0.6447 0.6079 hom 7232.62 224 4 69512847 . T G 7232.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.608;DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9629;MQ=59.20;MQ0=0;MQRankSum=1.701;QD=32.29;ReadPosRankSum=-0.093;VQSLOD=4.9114;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,223:224:99:7200,518,0 4 69795626 69795626 C T exonic UGT2A3 nonsynonymous SNV UGT2A3:NM_024743:exon6:c.G1489A:p.A497T 0.68 0.49 0.6 0.69 0.84 0.81 0.7662 0.5297 0.5241 0.6792 0.7312 0.8469 0.7709 0.8162 0.75 0.55 0.86 0.58 . rs13128286 COSM5426239 2(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . 0.148 0.248 T 0.63 0.383 P 0.544 0.472 P 0.086 0.024 N 1.000 0.212 P 1.47 0.371 L 0.12 0.611 T -2.17 0.490 N 0.092 0.091 -0.914 0.464 T 0.000 0.000 T . . . 3.374 0.464 22.9 0.991 0.520 0.039 0.092 N c -0.429 -0.633 0.000 0.050 0.487 0.133 0 2.22 0.270 0.277 0.184 0.588 0.286 0.000 0.063 0.004 0.083 10.054 0.412 . ENSG00000171234.9|ENSG00000135226.12|ENSG00000171234.9 Cells_Transformed_fibroblasts|Liver|Lung 0.7606 0.5225 0.5452 0.8462 0.6736 0.7314 0.8537 0.7892 0.8151 0.7309 0.5351 0.5885 0.8311 0.6605 0.7373 0.8525 0.7882 het 1522.04 134 4 69795626 . C T 1522.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.233;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7593;MQ=59.47;MQ0=0;MQRankSum=1.065;QD=11.36;ReadPosRankSum=-0.968;VQSLOD=4.6912;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,60:134:99:1552,0,1680 4 69964271 69964271 A G exonic UGT2B7 synonymous SNV UGT2B7:NM_001074:exon2:c.A735G:p.T245T,UGT2B7:NM_001330719:exon2:c.A735G:p.T245T 0.15 0.15 0.32 0.044 0.16 0.12 0.1666 0.1514 0.4128 0.0468 0.2514 0.1450 0.1641 0.1200 0.14 0.14 0.14 0.14 0.2 rs28365062 COSM4415408 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1724 0.1487 0.3841 0.1472 0.0444 0.2481 0.1363 0.1736 0.1191 0.1551 0.1527 0.3431 0.1644 0.0496 0.2376 0.1366 0.1816 het 1244.62 111 4 69964271 . A G 1244.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.233;DP=111;Dels=0.00;FS=8.423;HRun=0;HaplotypeScore=3.4091;MQ=57.33;MQ0=0;MQRankSum=1.285;QD=11.21;ReadPosRankSum=-2.152;VQSLOD=2.4341;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,48:111:99:1275,0,1510 4 69964337 69964337 A T exonic UGT2B7 synonymous SNV UGT2B7:NM_001074:exon2:c.A801T:p.P267P,UGT2B7:NM_001330719:exon2:c.A801T:p.P267P,UGT2B7:NM_001349568:exon3:c.A54T:p.P18P 0.67 0.77 0.68 0.73 0.51 0.6 0.5597 0.7109 0.7281 0.7069 0.5817 0.4844 0.5474 0.5655 0.16 0.26 0.11 . 0.52 rs7438284 COSM1131074 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5644 0.7160 0.7222 0.5098 0.7041 0.5834 0.4751 0.5494 0.5701 0.5618 0.7056 0.6938 0.5633 0.6953 0.5602 0.4608 0.5021 het 2846.38 187 4 69964337 . A T 2846.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.731;DP=187;Dels=0.00;FS=15.354;HRun=1;HaplotypeScore=2.6786;MQ=57.99;MQ0=1;MQRankSum=-0.029;QD=15.22;ReadPosRankSum=0.750;VQSLOD=2.2963;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:82,105:187:99:2876,0,2009 4 69964338 69964338 T C exonic UGT2B7 nonsynonymous SNV UGT2B7:NM_001074:exon2:c.T802C:p.Y268H,UGT2B7:NM_001330719:exon2:c.T802C:p.Y268H,UGT2B7:NM_001349568:exon3:c.T55C:p.Y19H 0.67 0.77 0.68 0.73 0.51 0.6 0.5597 0.7109 0.7284 0.7071 0.5817 0.4844 0.5474 0.5655 0.18 0.28 0.13 . 0.52 rs7439366 COSM4005793 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . 0.564 0.090 T 0.0 0.026 B 0.001 0.040 B 0.002 0.382 N 1.000 0.200 P . . . 0.28 0.591 T 3.26 0.002 N 0.044 0.024 -0.919 0.457 T 0.000 0.000 T . . . 0.182 0.111 4.484 0.677 0.082 0.010 0.036 N c -0.976 -1.040 1.000 0.747 0.554 0.246 0 1.83 0.242 2.008 0.403 -0.135 0.110 0.032 0.204 0.001 0.043 7.708 0.277 . ENSG00000171234.9 Skin_Sun_Exposed_Lower_leg 0.5644 0.7160 0.7223 0.5097 0.7040 0.5835 0.4751 0.5496 0.5701 0.5614 0.7053 0.6938 0.5633 0.6941 0.5602 0.4603 0.5021 het 2755.24 188 4 69964338 . T C 2755.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.559;DP=188;Dels=0.00;FS=12.248;HRun=0;HaplotypeScore=2.6786;MQ=58.00;MQ0=1;MQRankSum=-0.510;QD=14.66;ReadPosRankSum=1.132;VQSLOD=2.8499;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,104:188:99:2785,0,2059 4 70146230 70146230 G A exonic UGT2B28 synonymous SNV UGT2B28:NM_001207004:exon1:c.G12A:p.K4K,UGT2B28:NM_053039:exon1:c.G12A:p.K4K 0.64 0.59 0.67 0.6 0.77 0.61 0.7421 0.6314 0.7252 0.5983 0.8071 0.7802 0.7635 0.7122 0.74 0.66 0.78 0.5 0.73 rs13139691 COSM1430686 1(lung);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7390 0.6281 0.7168 0.7415 0.5930 0.7973 0.7824 0.7451 0.6949 0.7443 0.6464 0.7211 0.7071 0.6069 0.8064 0.7935 0.8036 hom 4201.25 144 4 70146230 . G A 4201.25 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=49.31;MQ0=3;QD=29.18;VQSLOD=7.0816;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4201,331,0 4 70146704 70146704 G A exonic UGT2B28 synonymous SNV UGT2B28:NM_001207004:exon1:c.G486A:p.A162A,UGT2B28:NM_053039:exon1:c.G486A:p.A162A 0.37 0.23 0.45 0.38 0.48 0.36 0.4828 0.2946 0.5670 0.3765 0.4886 0.5166 0.4653 0.4544 0.45 0.32 0.51 0.3 0.44 rs7689398 COSM4417015 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4853 0.2945 0.5499 0.3916 0.3776 0.4811 0.5263 0.4828 0.4495 0.4644 0.3042 0.4987 0.3723 0.3822 0.5124 0.5409 0.5345 hom 1748.80 57 4 70146704 . G A 1748.80 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.611;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9138;MQ=59.01;MQ0=0;MQRankSum=-1.611;QD=30.68;ReadPosRankSum=-0.638;VQSLOD=7.8821;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,56:57:99:1782,115,0 4 70160277 70160277 T G exonic UGT2B28 nonsynonymous SNV UGT2B28:NM_053039:exon6:c.T1340G:p.I447R 0.38 0.27 0.45 0.38 0.48 0.36 0.4862 0.3217 0.5707 0.3824 0.4886 0.5167 0.4675 0.4509 0.45 0.34 0.5 0.28 0.43 rs6843900 COSM149685 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(kidney);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.042 0.239 N 0.984 0.588 P -2.655 0.000 N 0.22 0.599 T 4.89 0.000 N 0.081 0.074 -0.921 0.454 T 0.000 0.000 T . . . -1.226 0.024 0.006 0.227 0.009 0.002 0.011 N c -1.736 -1.668 0.000 0.012 0.487 0.133 0 2.17 0.266 0.695 0.250 -1.498 0.010 0.000 0.063 0.110 0.193 7.825 0.283 . ENSG00000171234.9|ENSG00000171234.9|ENSG00000171234.9|ENSG00000213759.4 Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.4715 0.3153 0.5196 0.3413 0.3738 0.4708 0.5170 0.4596 0.4262 0.4698 0.3382 0.4987 0.3486 0.3771 0.5117 0.5362 0.5328 hom 1606.92 59 4 70160277 . T G 1606.92 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.12;MQ0=1;QD=27.24;VQSLOD=3.7408;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1640,135,0 4 70160309 70160309 C G exonic UGT2B28 nonsynonymous SNV UGT2B28:NM_053039:exon6:c.C1372G:p.H458D 0.38 0.27 0.45 0.38 0.48 0.36 0.4917 0.3311 0.5775 0.3852 0.4951 0.5223 0.4752 0.4579 0.46 0.35 0.51 0.29 0.43 rs6828191 COSM3747595 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.999 0.810 P -3.975 0.000 N 1.31 0.354 T 6.22 0.000 N 0.051 0.032 -0.903 0.477 T 0.000 0.000 T . . . -0.298 0.069 0.671 0.452 0.035 0.012 0.042 N c -1.574 -1.320 0.000 0.046 0.487 0.133 0 1.85 0.243 4.560 0.603 -0.049 0.123 1.000 0.715 0.687 0.306 7.946 0.290 . ENSG00000171234.9|ENSG00000171234.9|ENSG00000171234.9|ENSG00000213759.4 Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.4913 0.3280 0.5569 0.3824 0.3827 0.4859 0.5303 0.4859 0.4559 0.4711 0.3377 0.4961 0.3507 0.3769 0.5149 0.5380 0.5331 hom 2377.28 80 4 70160309 . C G 2377.28 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=45.09;MQ0=1;QD=29.72;VQSLOD=3.3558;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2410,196,0 4 70355211 70355211 T C exonic UGT2B4 synonymous SNV UGT2B4:NM_001297615:exon3:c.A948G:p.T316T,UGT2B4:NM_021139:exon3:c.A948G:p.T316T,UGT2B4:NM_001297616:exon4:c.A540G:p.T180T 1. 1. 1. 1. 1. 1. 0.9999 0.9999 1 1 1 0.9999 1 0.9998 . . . 1. 1. rs1845555 COSM4594663 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9999 1 1 1 1 0.9999 0.9998 0.9999 1 1 1 1 1 1 1 1 hom 6257.31 210 4 70355211 . T C 6257.31 Mask AC=2;AF=1.00;AN=2;DP=210;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9562;MQ=59.27;MQ0=0;QD=29.80;VQSLOD=8.3023;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,210:210:99:6256,502,0 4 70460328 70460328 C T exonic UGT2A1;UGT2A2 nonsynonymous SNV UGT2A2:NM_001301233:exon4:c.G1066A:p.V356I,UGT2A1:NM_001301239:exon4:c.G1039A:p.V347I,UGT2A2:NM_001105677:exon5:c.G1198A:p.V400I,UGT2A1:NM_001252274:exon6:c.G1669A:p.V557I,UGT2A1:NM_001252275:exon6:c.G1171A:p.V391I,UGT2A1:NM_006798:exon6:c.G1171A:p.V391I 0.12 0.13 0.15 0.029 0.17 0.12 0.1424 0.1109 0.1635 0.0244 0.1325 0.1595 0.1156 0.1457 0.15 0.1 0.18 0.087 0.16 rs4148304 COSM1131073;COSM1131072 1(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.021 0.172 B 0.014 0.166 B 0.188 0.169 N . . . -0.165 0.043 N 0.1 0.614 T 0.51 0.031 N 0.027 0.011 -1.062 0.113 T 0.000 0.000 T . . . -0.550 0.053 0.165 0.793 0.122 0.017 0.054 N c -1.518 -1.424 0.048 0.148 0.487 0.133 0 -2.67 0.057 0.204 0.170 -0.325 0.076 0.018 0.193 0.982 0.498 7.051 0.241 . ENSG00000156096.8|ENSG00000248886.2|ENSG00000156096.8 Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung 0.1429 0.1099 0.1575 0.0447 0.0244 0.1350 0.1706 0.1370 0.1476 0.1430 0.1130 0.1699 0.0364 0.0290 0.1427 0.1731 0.1507 het 1351.74 124 4 70460328 . C T 1351.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.403;DP=124;Dels=0.00;FS=0.769;HRun=1;HaplotypeScore=7.3992;MQ=59.51;MQ0=0;MQRankSum=-0.787;QD=10.90;ReadPosRankSum=-0.191;VQSLOD=4.0729;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,50:124:99:1382,0,2110 4 70513139 70513139 C T exonic UGT2A1 nonsynonymous SNV UGT2A1:NM_001301239:exon1:c.G224A:p.R75K,UGT2A1:NM_001252274:exon2:c.G224A:p.R75K,UGT2A1:NM_001252275:exon2:c.G224A:p.R75K,UGT2A1:NM_006798:exon2:c.G224A:p.R75K 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1 1 1 . . . 0.99 1. rs1347046 COSM4591248 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1665.65 54 4 70513139 . C T 1665.65 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.09;MQ0=0;QD=30.85;VQSLOD=9.0550;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1699,129,0 4 70898907 70898907 C T exonic HTN3 synonymous SNV HTN3:NM_000200:exon5:c.C126T:p.G42G 0.11 0.015 0.16 0.2 0.11 0.11 0.1078 0.0296 0.1867 0.1941 0.0644 0.0947 0.1145 0.1265 0.075 0.034 0.097 0.12 0.11 rs1849937 COSM1131070 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1108 0.0279 0.1785 0.1305 0.1917 0.0614 0.0940 0.1156 0.1245 0.0736 0.0294 0.1790 0.1678 0.1878 0.0641 0.0803 0.0920 het 1052.18 97 4 70898907 . C T 1052.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.706;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.47;MQ0=0;MQRankSum=0.112;QD=10.85;ReadPosRankSum=0.799;VQSLOD=6.0446;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,45:97:99:1082,0,1328 4 71115053 71115053 T A exonic CSN3 synonymous SNV CSN3:NM_005212:exon4:c.T426A:p.P142P 0.072 0.086 0.079 0.031 0.12 0.036 0.1017 0.0977 0.0457 0.0541 0.1199 0.1300 0.0885 0.0471 0.12 0.093 0.13 0.11 0.15 rs3775740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0988 0.0975 0.0473 0.0612 0.0582 0.1207 0.1341 0.0968 0.0469 0.1186 0.0990 0.0549 0.0298 0.0582 0.1165 0.1421 0.1217 het 923.14 82 4 71115053 . T A 923.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.773;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.0509;MQ=59.49;MQ0=0;MQRankSum=0.652;QD=11.26;ReadPosRankSum=-1.556;VQSLOD=4.4327;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,37:82:99:953,0,1116 4 71115152 71115152 T C exonic CSN3 synonymous SNV CSN3:NM_005212:exon4:c.T525C:p.V175V 0.31 0.19 0.4 0.32 0.39 0.34 0.3638 0.2289 0.3274 0.3164 0.3790 0.3986 0.3657 0.3510 0.34 0.23 0.39 0.34 0.33 rs3775738 COSM1131069 2(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3640 0.2214 0.3349 0.3624 0.3151 0.3790 0.3998 0.3617 0.3550 0.3521 0.2267 0.3313 0.3576 0.3184 0.3809 0.4208 0.3870 het 898.90 79 4 71115152 . T C 898.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.419;DP=79;Dels=0.00;FS=4.580;HRun=0;HaplotypeScore=3.4082;MQ=58.08;MQ0=0;MQRankSum=-0.655;QD=11.38;ReadPosRankSum=-1.196;VQSLOD=4.6414;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,36:79:99:929,0,1131 4 71201388 71201388 C T exonic CABS1 nonsynonymous SNV CABS1:NM_033122:exon1:c.C632T:p.T211I 0.92 0.78 0.96 1. 0.96 0.98 0.9463 0.7994 0.9747 1 0.9680 0.9486 0.9581 0.9722 0.9 0.81 0.95 0.89 0.95 rs1351419 . . . . . . . . . . . . . 0.978 0.020 T 0.0 0.026 B 0.0 0.013 B 0.266 0.152 N 1 0.090 P -0.345 0.033 N 2.01 0.213 T 0.83 0.018 N 0.042 0.022 -1.005 0.285 T 0.000 0.000 T . . . -0.457 0.058 0.280 0.050 0.000 0.003 0.015 N c -1.369 -1.329 0.000 0.012 0.487 0.133 0 1.19 0.200 -0.277 0.085 -0.215 0.099 0.000 0.063 0.050 0.164 7.945 0.290 . ENSG00000109208.4 Thyroid 0.9515 0.7943 0.9728 0.9748 1 0.9648 0.9480 0.9606 0.9730 0.9103 0.7999 0.9689 0.9669 0.9994 0.9657 0.9453 0.9490 hom 1382.39 44 4 71201388 . C T 1382.39 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;QD=31.42;VQSLOD=8.8445;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1415,111,0 4 71232388 71232388 G A exonic SMR3A nonsynonymous SNV SMR3A:NM_012390:exon3:c.G82A:p.G28R 0.3 0.12 0.26 0.42 0.27 0.47 0.2938 0.1274 0.2375 0.3821 0.2365 0.2884 0.2778 0.4461 0.23 0.14 0.28 0.2 0.37 rs10031844 COSM3760716 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.626 0.052 T 0.001 0.067 B 0.003 0.080 B . . . 1 0.090 P 0.295 0.102 N 1.57 0.293 T -2.69 0.574 D 0.044 0.026 -0.913 0.465 T 0.000 0.000 T . . . -0.742 0.043 0.058 0.532 0.048 0.022 0.064 N c -1.536 -1.628 0.001 0.076 0.487 0.133 0 -5.14 0.026 -0.806 0.046 -0.538 0.048 0.000 0.063 0.008 0.104 7.339 0.256 . ENSG00000109208.4 Thyroid 0.2875 0.1274 0.2352 0.2314 0.3881 0.2341 0.2872 0.2712 0.4280 0.2350 0.1267 0.2344 0.2417 0.4036 0.2246 0.2801 0.2798 het 968.93 107 4 71232388 . G A 968.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.203;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8656;MQ=59.04;MQ0=0;MQRankSum=1.181;QD=9.06;ReadPosRankSum=-2.283;VQSLOD=4.7620;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,42:107:99:999,0,1852 4 71232430 71232430 T C exonic SMR3A nonsynonymous SNV SMR3A:NM_012390:exon3:c.T124C:p.C42R 0.95 0.89 0.96 1. 0.96 0.99 0.9645 0.9040 0.9698 1 0.9841 0.9615 0.9581 0.9855 0.94 0.91 0.95 0.89 0.96 rs10024123 . . . . . . . . . . . . . 0.586 0.059 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 1.67 0.273 T 0.19 0.050 N 0.017 0.003 -0.973 0.367 T 0.000 0.000 T . . . -0.755 0.042 0.054 0.490 0.041 0.001 0.005 N c -1.633 -1.637 0.000 0.012 0.487 0.133 0 0.653 0.169 -0.300 0.082 -0.633 0.042 0.000 0.063 0.000 0.016 2.636 0.046 . . . 0.9656 0.9032 0.9691 0.9598 0.9998 0.9813 0.9599 0.9602 0.9855 0.9509 0.9060 0.9702 0.9536 1 0.9843 0.9613 0.9756 hom 4819.48 159 4 71232430 . T C 4819.48 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1838;MQ=57.67;MQ0=0;QD=30.31;VQSLOD=6.0531;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4819,391,0 4 71232701 71232701 C T exonic SMR3A nonsynonymous SNV SMR3A:NM_012390:exon3:c.C395T:p.P132L 0.66 0.77 0.7 0.59 0.69 0.52 0.6749 0.7769 0.7330 0.6247 0.7490 0.6757 0.6898 0.5618 0.7 0.77 0.67 0.7 0.59 rs6853742 COSM1131068 1(prostate);4(large_intestine) . . . . . . . . . . . 0.988 0.020 T 0.033 0.190 B 0.012 0.149 B . . . 1 0.090 P 0 0.065 N 1.63 0.280 T -2.72 0.579 D 0.053 0.037 -0.959 0.395 T 0.000 0.000 T . . . 0.559 0.147 7.869 0.352 0.022 0.044 0.099 N c -1.383 -1.368 0.000 0.012 0.487 0.133 0 1.6 0.226 0.136 0.157 -0.029 0.127 0.001 0.137 0.000 0.016 5.765 0.174 . . . 0.6796 0.7757 0.7340 0.7296 0.6183 0.7489 0.6738 0.6915 0.5596 0.7164 0.7796 0.7386 0.7119 0.6044 0.7605 0.6813 0.6959 het 852.08 74 4 71232701 . C T 852.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.304;DP=74;Dels=0.00;FS=2.267;HRun=1;HaplotypeScore=3.3601;MQ=59.41;MQ0=0;MQRankSum=-0.109;QD=11.51;ReadPosRankSum=-1.675;VQSLOD=5.1091;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,33:74:99:882,0,1146 4 71346701 71346701 C G exonic MUC7 nonsynonymous SNV MUC7:NM_152291:exon3:c.C240G:p.N80K,MUC7:NM_001145006:exon4:c.C240G:p.N80K,MUC7:NM_001145007:exon4:c.C240G:p.N80K 0.31 0.3 0.2 0.41 0.22 0.4 0.2726 0.2922 0.1533 0.3666 0.2970 0.2505 0.2411 0.3757 0.26 0.3 0.24 0.29 0.31 rs6826961 COSM4003128 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.511 0.093 T 0.006 0.126 B 0.005 0.104 B . . . 1 0.090 P 0.205 0.094 N 0.67 0.524 T -0.39 0.299 N 0.011 0.001 -0.949 0.412 T 0.000 0.000 T . . . -1.923 0.009 0.001 0.136 0.003 0.009 0.034 N c -1.699 -1.799 0.000 0.029 0.487 0.133 0 -3.1 0.050 -2.884 0.008 -1.881 0.006 0.000 0.063 0.000 0.016 0.098 0.000 . . . 0.2653 0.2992 0.1526 0.2044 0.3669 0.3017 0.2484 0.2415 0.3731 0.2773 0.2962 0.1639 0.2152 0.3951 0.2961 0.2564 0.2800 het 984.27 88 4 71346701 . C G 984.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.168;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7128;MQ=59.48;MQ0=0;MQRankSum=0.504;QD=11.18;ReadPosRankSum=-2.453;VQSLOD=5.4021;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,39:88:99:1014,0,1365 4 71468985 71468985 A G exonic AMBN synonymous SNV AMBN:NM_016519:exon10:c.A657G:p.Q219Q 0.076 0.036 0.12 0.003 0.19 0.051 0.1565 0.0576 0.0778 0.0078 0.1987 0.2229 0.1272 0.0679 0.17 0.067 0.22 0.076 0.16 rs35266919 COSM3760720 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1529 0.0553 0.0783 0.1275 0.0085 0.1953 0.2275 0.1639 0.0689 0.1683 0.0623 0.0931 0.1258 0.0074 0.1951 0.2450 0.1894 het 627.38 47 4 71468985 . A G 627.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.462;DP=47;Dels=0.00;FS=4.273;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.120;QD=13.35;ReadPosRankSum=-0.317;VQSLOD=4.9831;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,29:47:99:657,0,426 4 72425863 72425863 C T exonic SLC4A4 synonymous SNV SLC4A4:NM_003759:exon20:c.C2859T:p.H953H,SLC4A4:NM_001098484:exon23:c.C2991T:p.H997H,SLC4A4:NM_001134742:exon23:c.C2991T:p.H997H 0.78 0.61 0.86 0.75 0.96 0.8 0.8891 0.6506 0.8655 0.7562 0.9605 0.9547 0.8855 0.8317 0.86 0.66 0.96 0.78 0.89 rs1453458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8933 0.6456 0.8711 0.9042 0.7675 0.9545 0.9564 0.9084 0.8329 0.8552 0.6541 0.8648 0.8940 0.7510 0.9573 0.9540 0.9143 hom 5014.48 165 4 72425863 . C T 5014.48 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9509;MQ=57.87;MQ0=0;QD=30.39;VQSLOD=7.3607;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,165:165:99:5014,394,0 4 72618296 72618296 T C exonic GC nonsynonymous SNV GC:NM_000583:exon11:c.A1334G:p.H445R,GC:NM_001204306:exon12:c.A1334G:p.H445R,GC:NM_001204307:exon12:c.A1391G:p.H464R 0.99 0.98 1. 1. 1. 1. 0.9980 0.9780 0.9995 1 1 1.0000 1 0.9993 0.99 0.98 1. 0.89 1. rs9016 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.369 N 1 0.090 P . . . 2.66 0.126 T 1.18 0.011 N 0.015 0.005 -0.965 0.383 T 0.000 0.000 T . . . -2.015 0.008 0.001 0.116 0.002 0.002 0.012 N c -1.283 -1.300 0.329 0.195 0.601 0.348 0 0.982 0.188 -2.130 0.014 -0.351 0.070 0.000 0.063 0.007 0.100 2.852 0.052 Serum albumin-like|Vitamin D binding protein\x2c domain III . . 0.9985 0.9782 0.9993 1 0.9999 1 1.0000 0.9996 0.9994 0.9940 0.9788 1 1 1 1 1 0.9980 hom 2911.71 98 4 72618296 . T C 2911.71 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.29;MQ0=0;QD=29.71;VQSLOD=8.3718;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:2945,244,0 4 72618323 72618323 G T exonic GC nonsynonymous SNV GC:NM_000583:exon11:c.C1307A:p.T436K,GC:NM_001204306:exon12:c.C1307A:p.T436K,GC:NM_001204307:exon12:c.C1364A:p.T455K 0.21 0.067 0.21 0.26 0.25 0.3 0.2528 0.0983 0.2085 0.2693 0.2014 0.2760 0.2489 0.2990 0.23 0.11 0.29 0.2 0.33 rs4588 COSM4003132;COSM4003131 3(haematopoietic_and_lymphoid_tissue) Benign GC1/GC2_POLYMORPHISM RCV000017356.3 . . . . . . . . 0.481 0.102 T 0.009 0.139 B 0.011 0.145 B 0.226 0.035 N 1 0.090 P . . . 2.33 0.165 T -0.12 0.088 N 0.067 0.054 -0.939 0.428 T 0.000 0.000 T . . . -0.107 0.084 1.682 0.187 0.006 0.014 0.047 N c -1.245 -1.312 0.619 0.219 0.601 0.348 0 -2.73 0.056 -0.459 0.068 0.089 0.194 0.000 0.063 0.000 0.016 5.763 0.174 Serum albumin-like|Vitamin D binding protein\x2c domain III . . 0.2535 0.0966 0.2076 0.2871 0.2732 0.1998 0.2814 0.2510 0.2976 0.2245 0.1019 0.2542 0.3046 0.2611 0.2107 0.2894 0.2628 het 1234.98 117 4 72618323 . G T 1234.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.300;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9971;MQ=59.41;MQ0=0;MQRankSum=-0.008;QD=10.56;ReadPosRankSum=0.036;VQSLOD=6.7364;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,52:117:99:1265,0,1677 4 72618334 72618334 A C exonic GC nonsynonymous SNV GC:NM_000583:exon11:c.T1296G:p.D432E,GC:NM_001204306:exon12:c.T1296G:p.D432E,GC:NM_001204307:exon12:c.T1353G:p.D451E 0.38 0.094 0.54 0.3 0.58 0.54 0.5159 0.1606 0.4987 0.2920 0.6742 0.5783 0.5374 0.5525 0.43 0.17 0.56 0.3 0.5 rs7041 COSM149688;COSM4381394 1(stomach);1(large_intestine) Benign GC1/GC2_POLYMORPHISM RCV000017357.2 . . Serum vitamin D-binding protein levels . . 24740207 rs7041 1E-246 0.357 0.134 T 0.0 0.026 B 0.001 0.040 B 0.231 0.159 N 1 0.090 P 1.585 0.400 L 2.22 0.182 T 0.76 0.020 N 0.034 0.016 -0.939 0.429 T 0.000 0.000 T . . . -1.625 0.014 0.002 0.460 0.036 0.010 0.038 N c -1.760 -1.878 1.000 0.747 0.487 0.133 0 -10.0 0.004 -3.886 0.004 -0.656 0.041 0.000 0.063 0.000 0.016 6.102 0.191 Serum albumin-like|Vitamin D binding protein\x2c domain III . . 0.5234 0.1516 0.5065 0.5985 0.2851 0.6730 0.5703 0.5586 0.5517 0.4534 0.1685 0.4928 0.5629 0.2945 0.6722 0.5746 0.55 het 1692.37 119 4 72618334 . A C 1692.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.695;DP=119;Dels=0.00;FS=1.515;HRun=1;HaplotypeScore=1.6643;MQ=59.61;MQ0=0;MQRankSum=-1.069;QD=14.22;ReadPosRankSum=0.413;VQSLOD=6.4472;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,64:119:99:1722,0,1333 4 73930552 73930552 G A exonic COX18 synonymous SNV COX18:NM_001300729:exon3:c.C672T:p.P224P,COX18:NM_001297732:exon4:c.C666T:p.P222P,COX18:NM_001297733:exon4:c.C210T:p.P70P,COX18:NM_173827:exon4:c.C663T:p.P221P 0.34 0.19 0.3 0.39 0.46 0.41 0.3959 0.2402 0.2561 0.3892 0.4068 0.4310 0.4290 0.4472 0.36 0.24 0.43 0.32 0.31 rs3762883 COSM4417352 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3917 0.2293 0.2639 0.3504 0.3837 0.4046 0.4377 0.4012 0.4519 0.3679 0.2352 0.2907 0.3667 0.3693 0.3981 0.4398 0.4031 het 1191.15 124 4 73930552 . G A 1191.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.378;DP=124;Dels=0.00;FS=0.681;HRun=0;HaplotypeScore=0.8321;MQ=59.55;MQ0=0;MQRankSum=0.363;QD=9.61;ReadPosRankSum=-0.046;VQSLOD=6.6892;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,49:124:99:1221,0,1656 4 73942678 73942678 C T exonic ANKRD17 synonymous SNV ANKRD17:NM_198889:exon32:c.G6978A:p.T2326T,ANKRD17:NM_001286771:exon33:c.G7392A:p.T2464T,ANKRD17:NM_015574:exon33:c.G7728A:p.T2576T,ANKRD17:NM_032217:exon33:c.G7731A:p.T2577T 0.18 0.014 0.22 0.29 0.17 0.26 0.1709 0.0342 0.2476 0.2642 0.1008 0.1591 0.1553 0.2317 0.12 0.039 0.16 0.16 0.18 rs2306058 COSM4003133 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1745 0.0342 0.243 0.1721 0.2605 0.1043 0.1614 0.1771 0.2241 0.1181 0.0398 0.2363 0.1954 0.2677 0.0966 0.1430 0.1380 het 2394.31 201 4 73942678 . C T 2394.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.020;DP=201;Dels=0.00;FS=4.041;HRun=0;HaplotypeScore=0.9894;MQ=58.98;MQ0=0;MQRankSum=0.053;QD=11.91;ReadPosRankSum=0.732;VQSLOD=6.2759;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,92:201:99:2424,0,2660 4 73956736 73956736 G A exonic ANKRD17 synonymous SNV ANKRD17:NM_198889:exon28:c.C5856T:p.L1952L,ANKRD17:NM_001286771:exon29:c.C6270T:p.L2090L,ANKRD17:NM_015574:exon29:c.C6606T:p.L2202L,ANKRD17:NM_032217:exon29:c.C6609T:p.L2203L 0.35 0.24 0.3 0.38 0.45 0.41 0.3936 0.2771 0.2536 0.3894 0.4007 0.4229 0.4183 0.4449 0.37 0.28 0.42 0.32 0.3 rs6855349 COSM3760723 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3898 0.27 0.2623 0.3708 0.3840 0.3980 0.4283 0.4013 0.4497 0.3719 0.2700 0.2931 0.3841 0.3688 0.3908 0.4296 0.3969 het 2800 219 4 73956736 . G A 2800 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.677;DP=219;DS;Dels=0.00;FS=1.834;HRun=1;HaplotypeScore=4.6993;MQ=59.48;MQ0=0;MQRankSum=1.324;QD=12.79;ReadPosRankSum=0.901;VQSLOD=5.5518;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,99:219:99:2830,0,3635 4 73991006 73991006 T C exonic ANKRD17 synonymous SNV ANKRD17:NM_198889:exon16:c.A2505G:p.A835A,ANKRD17:NM_001286771:exon17:c.A2919G:p.A973A,ANKRD17:NM_015574:exon17:c.A3255G:p.A1085A,ANKRD17:NM_032217:exon17:c.A3258G:p.A1086A 1. 0.99 1. 1. 1. 1. 0.9988 0.9884 0.9984 1 1 1.0000 1 1 1. 0.99 1. 1. 1. rs6822576 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9890 0.9984 1 1 1 1.0000 0.9993 1 0.9968 0.9889 1 1 1 1 1 0.9990 hom 3291.40 117 4 73991006 . T C 3291.40 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=28.13;VQSLOD=8.1562;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3291,268,0 4 74285239 74285239 C T exonic ALB synonymous SNV ALB:NM_000477:exon13:c.C1668T:p.L556L 0.48 0.43 0.41 0.56 0.55 0.47 0.5354 0.4185 0.4032 0.5749 0.5633 0.5760 0.5397 0.5050 0.52 0.42 0.57 0.5 0.53 rs962004 COSM4768573 1(biliary_tract) Likely benign Hyperthyroxinemia\x2c_dysalbuminemic RCV000359248.1 MedGen C1863119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5277 0.4085 0.4082 0.4564 0.5707 0.5560 0.5802 0.5220 0.5061 0.5268 0.4163 0.4401 0.47 0.5680 0.5490 0.5874 0.5446 het 1131.94 85 4 74285239 . C T 1131.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.982;DP=85;Dels=0.00;FS=3.608;HRun=1;HaplotypeScore=2.8233;MQ=58.75;MQ0=0;MQRankSum=0.101;QD=13.32;ReadPosRankSum=1.422;VQSLOD=5.4185;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,40:85:99:1162,0,1195 4 74318330 74318330 A G exonic AFP synonymous SNV AFP:NM_001134:exon12:c.A1641G:p.T547T 0.98 0.91 1. 1. 1. 1. 0.9938 0.9321 0.9977 0.9999 1 0.9999 0.9956 0.9993 0.98 0.94 1. 0.94 1. rs4235117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9949 0.9294 0.9965 1 0.9999 1 0.9999 0.9976 0.9995 0.9802 0.9313 0.9964 1 1 1 0.9997 0.9939 hom 1464.25 47 4 74318330 . A G 1464.25 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.01;MQ0=0;QD=31.15;VQSLOD=9.5208;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1497,117,0 4 74735244 74735244 A G exonic CXCL1 synonymous SNV CXCL1:NM_001511:exon1:c.A57G:p.A19A 0.38 0.55 0.43 0.39 0.18 0.31 0.3639 0.5640 0.5437 0.4924 0.3394 0.2955 0.3829 0.3255 0.26 0.4 0.19 0.18 . rs2071425 COSM3749883 2(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2884 0.4936 0.4464 0.2861 0.4056 0.2276 0.2056 0.2765 0.2899 0.3064 0.4955 0.4111 0.2980 0.3809 0.2299 0.2033 0.2588 het 416.91 27 4 74735244 . A G 416.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.058;DP=27;Dels=0.00;FS=2.706;HRun=0;HaplotypeScore=0.0000;MQ=58.27;MQ0=0;MQRankSum=0.437;QD=15.44;ReadPosRankSum=-1.136;VQSLOD=4.3179;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,19:27:99:447,0,219 4 74863997 74863997 T C exonic CXCL5 synonymous SNV CXCL5:NM_002994:exon2:c.A168G:p.Q56Q 0.81 0.53 0.88 0.96 0.89 0.92 0.8694 0.5936 0.8934 0.9671 0.8884 0.8850 0.8888 0.9030 0.79 0.6 0.89 0.71 0.89 rs425535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8754 0.5897 0.8946 0.8606 0.9679 0.8836 0.8862 0.8840 0.9027 0.8100 0.5982 0.9010 0.9040 0.9660 0.8777 0.8890 0.8765 hom 4368.50 133 4 74863997 . T C 4368.50 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6988;MQ=58.88;MQ0=0;QD=32.85;VQSLOD=9.3788;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:133:99:4368,334,0 4 75248434 75248434 A G exonic EREG synonymous SNV EREG:NM_001432:exon4:c.A351G:p.E117E 0.77 0.79 0.83 0.7 0.81 0.72 0.7927 0.7768 0.8707 0.6960 0.8156 0.8024 0.8095 0.7495 0.78 0.75 0.79 0.77 0.77 rs2367707 COSM5010191 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7949 0.7749 0.8710 0.8069 0.6879 0.8150 0.7983 0.7991 0.7504 0.7915 0.7749 0.8747 0.8377 0.6850 0.8136 0.7999 0.8241 het 2149.05 156 4 75248434 . A G 2149.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.672;DP=156;Dels=0.00;FS=0.596;HRun=0;HaplotypeScore=2.8464;MQ=59.05;MQ0=0;MQRankSum=-0.272;QD=13.78;ReadPosRankSum=0.311;VQSLOD=6.5208;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,82:156:99:2179,0,1952 4 75675841 75675841 A T exonic BTC nonsynonymous SNV BTC:NM_001729:exon4:c.T370A:p.L124M 0.2 0.24 0.2 0.041 0.26 0.25 0.2237 0.2630 0.1335 0.0417 0.1819 0.2542 0.2654 0.2488 0.27 0.27 0.27 0.14 0.2 rs11938093 COSM3760735 1(large_intestine) . . . . . . . . . . . 0.046 0.405 D 0.999 0.764 D 0.982 0.739 D 0.000 0.441 D 0.824 0.288 P 2.615 0.767 M 2.45 0.150 T -1.57 0.379 N 0.189 0.241 -1.009 0.273 T 0.000 0.000 T . . . 4.559 0.611 24.4 0.996 0.758 0.508 0.285 D c 0.210 0.185 0.000 0.058 0.487 0.133 0 2.94 0.330 -0.081 0.112 1.199 0.960 0.832 0.299 0.995 0.604 5.936 0.183 . . . 0.2221 0.2628 0.1432 0.3287 0.0422 0.1868 0.2559 0.2508 0.2520 0.2335 0.2698 0.1591 0.3576 0.0494 0.1903 0.2456 0.2090 het 2417.87 220 4 75675841 . A T 2417.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.410;DP=220;Dels=0.00;FS=8.541;HRun=0;HaplotypeScore=5.4559;MQ=59.24;MQ0=0;MQRankSum=1.273;QD=10.99;ReadPosRankSum=0.996;VQSLOD=3.7272;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:130,89:220:99:2448,0,3558 4 75938236 75938236 A G exonic PARM1 synonymous SNV PARM1:NM_015393:exon2:c.A645G:p.V215V 0.41 0.42 0.35 0.21 0.53 0.53 0.4586 0.4367 0.3201 0.2102 0.5321 0.4955 0.4422 0.5204 0.47 0.43 0.5 0.36 . rs1062293 COSM4003136;COSM4003137;COSM149693 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4575 0.4411 0.3426 0.3758 0.2155 0.5327 0.5051 0.4697 0.5232 0.4790 0.4326 0.3735 0.4133 0.2366 0.5424 0.5205 0.5389 het 1573.13 134 4 75938236 . A G 1573.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.792;DP=134;DS;Dels=0.00;FS=6.987;HRun=0;HaplotypeScore=0.9967;MQ=59.66;MQ0=0;MQRankSum=-0.528;QD=11.74;ReadPosRankSum=1.432;VQSLOD=4.8796;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,55:134:99:1603,0,2079 4 76720885 76720885 T C exonic USO1 unknown UNKNOWN 0.75 0.7 0.76 0.9 0.65 0.77 0.7160 0.6962 0.8095 0.9006 0.6738 0.6728 0.7327 0.7562 0.67 0.69 0.67 0.76 . rs13119659 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7168 0.6949 0.7912 0.7243 0.8970 0.6792 0.6656 0.7195 0.7552 0.6990 0.6971 0.7452 0.7053 0.8880 0.6789 0.6811 0.7096 hom 3626 124 4 76720885 . T C 3626 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.26;MQ0=0;QD=29.24;VQSLOD=7.9541;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3625,304,0 4 76722353 76722353 G A exonic USO1 unknown UNKNOWN 0.65 0.34 0.77 0.89 0.76 0.64 0.7183 0.3777 0.7361 0.9227 0.7495 0.7428 0.7410 0.6860 0.63 0.38 0.74 0.59 . rs324726 COSM3774151;COSM3774150 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7257 0.3649 0.7362 0.8165 0.9233 0.7467 0.7389 0.7596 0.6858 0.6531 0.3856 0.7124 0.8311 0.9346 0.7401 0.7468 0.7108 hom 1451.18 53 4 76722353 . G A 1451.18 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.602;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=57.49;MQ0=0;MQRankSum=-1.340;QD=27.38;ReadPosRankSum=-1.405;VQSLOD=6.2385;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,52:53:99:1484,111,0 4 76793228 76793228 A G exonic PPEF2 synonymous SNV PPEF2:NM_006239:exon13:c.T1599C:p.I533I 0.99 0.97 1. 1. 1. 1. 0.9975 0.9721 0.9991 1 1 1.0000 0.9989 0.9997 0.99 0.97 1. 0.99 1. rs1394916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9720 0.9988 1 1 1 1.0000 0.9989 0.9997 0.9918 0.9715 0.9976 1 1 1 0.9999 0.9969 hom 3968.30 140 4 76793228 . A G 3968.30 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.84;MQ0=0;QD=28.34;VQSLOD=7.9132;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:3967,316,0 4 76794345 76794345 T G exonic PPEF2 nonsynonymous SNV PPEF2:NM_006239:exon12:c.A1441C:p.M481L 1. 1. 1. 1. 1. 1. 0.9997 0.9969 0.9999 1 1 1.0000 1 1 1. 1. 1. 1. 0.98 rs6858658 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.460 N 1 0.090 P -2.52 0.001 N -1.65 0.826 D 1.78 0.005 N 0.061 0.045 -0.953 0.405 T 0.000 0.000 T . . . -0.649 0.047 0.095 0.311 0.017 0.112 0.163 N c -1.322 -1.074 0.851 0.250 0.487 0.133 0 3.63 0.406 3.126 0.499 0.073 0.181 1.000 0.715 0.310 0.239 6.916 0.234 Metallo-dependent phosphatase-like|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase . . 0.9998 0.9969 0.9999 1 1 1 1 0.9996 1 0.9989 0.9964 0.9988 1 1 1 0.9999 0.9990 hom 4605.37 135 4 76794345 . T G 4605.37 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=34.11;VQSLOD=9.8021;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4605,355,0 4 76805902 76805902 C T exonic PPEF2 synonymous SNV PPEF2:NM_006239:exon8:c.G591A:p.P197P 0.86 0.54 0.95 0.99 0.98 0.99 0.9494 0.5830 0.9689 0.9934 0.9918 0.9839 0.9534 0.9880 0.85 0.59 0.98 0.8 0.83 rs1976518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9558 0.5767 0.9654 0.9645 0.9938 0.9933 0.9851 0.9612 0.9870 0.8716 0.5767 0.9594 0.9404 0.9963 0.9951 0.9885 0.9561 hom 8206.19 250 4 76805902 . C T 8206.19 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5624;MQ=59.02;MQ0=0;QD=32.82;VQSLOD=7.7296;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8205,656,0 4 76809386 76809386 A G exonic PPEF2 synonymous SNV PPEF2:NM_006239:exon6:c.T513C:p.S171S 0.99 0.98 1. 1. 1. 1. 0.9985 0.9837 0.9997 1 1 1.0000 1 0.9998 1. 0.99 1. 0.98 0.93 rs7691755 COSM4159186 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9989 0.9850 0.9996 1 1 1 1.0000 0.9989 0.9998 0.9964 0.9875 0.9988 1 1 1 0.9999 0.9990 hom 7817.68 250 4 76809386 . A G 7817.68 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4583;MQ=58.20;MQ0=0;QD=31.27;VQSLOD=6.9483;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7816,641,0 4 76836137 76836137 A G exonic NAAA nonsynonymous SNV NAAA:NM_014435:exon10:c.T1000C:p.F334L 0.74 0.97 0.7 0.54 0.71 0.71 0.7107 0.9354 0.6790 0.5287 0.7626 0.7048 0.6756 0.6993 0.77 0.93 0.7 0.74 0.67 rs6823734 COSM1567262 1(large_intestine) . . . . . . . . . . . 0.647 0.049 T 0.0 0.026 B 0.0 0.013 B 0.001 0.008 N 1 0.090 P -0.95 0.013 N 0.11 0.612 T 0.3 0.041 N 0.68 0.688 -0.937 0.431 T 0.000 0.000 T . . . -0.567 0.052 0.150 0.812 0.131 0.028 0.074 N c -1.989 -1.958 1.000 0.747 0.615 0.372 0 -7.99 0.010 -1.031 0.037 -0.575 0.046 0.000 0.063 0.147 0.204 5.437 0.157 . ENSG00000138744.10 Cells_Transformed_fibroblasts 0.7057 0.9395 0.6766 0.6825 0.5331 0.7683 0.7013 0.6878 0.6996 0.7668 0.9295 0.6746 0.6577 0.5261 0.7652 0.7082 0.7286 het 1233.52 99 4 76836137 . A G 1233.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.635;DP=99;Dels=0.00;FS=4.243;HRun=1;HaplotypeScore=4.4565;MQ=59.77;MQ0=0;MQRankSum=1.393;QD=12.46;ReadPosRankSum=-1.224;VQSLOD=4.7777;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,46:99:99:1264,0,1450 4 76878716 76878716 G C exonic SDAD1 nonsynonymous SNV SDAD1:NM_001288983:exon18:c.C1613G:p.S538C,SDAD1:NM_001288984:exon19:c.C1433G:p.S478C,SDAD1:NM_018115:exon19:c.C1724G:p.S575C 0.28 0.24 0.21 0.073 0.42 0.45 0.3410 0.2461 0.1386 0.0601 0.4415 0.3900 0.3491 0.4515 0.34 0.25 0.39 0.3 0.44 rs2242471 COSM3760741 1(large_intestine) . . . . . . . . . . . 0.047 0.403 D 0.941 0.509 P 0.612 0.493 P 0.000 0.559 D 0.776 0.294 P 2.085 0.579 M 1.89 0.863 T -1.67 0.399 N 0.063 0.051 -1.153 0.009 T 0.000 0.000 T . . . 5.632 0.767 26.6 0.991 0.510 0.933 0.575 D c 0.415 0.477 0.670 0.223 0.707 0.730 0 5.15 0.702 4.087 0.572 1.045 0.669 1.000 0.715 0.999 0.750 16.483 0.839 SDA1 domain ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000156219.12|ENSG00000138744.10|ENSG00000138744.10|ENSG00000156219.12|ENSG00000169248.8|ENSG00000156219.12|ENSG00000138750.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.3361 0.2407 0.1521 0.3568 0.0575 0.4404 0.3946 0.3251 0.4477 0.3372 0.2551 0.1890 0.3245 0.0543 0.4567 0.3932 0.3806 het 1845.69 151 4 76878716 . G C 1845.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.718;DP=151;Dels=0.00;FS=1.272;HRun=0;HaplotypeScore=6.9724;MQ=59.48;MQ0=0;MQRankSum=-0.598;QD=12.22;ReadPosRankSum=0.121;VQSLOD=3.9382;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,71:151:99:1876,0,2154 4 76881233 76881233 G T exonic SDAD1 nonsynonymous SNV SDAD1:NM_001288983:exon16:c.C1358A:p.A453D,SDAD1:NM_001288984:exon17:c.C1178A:p.A393D,SDAD1:NM_018115:exon17:c.C1469A:p.A490D 0.095 0.016 0.11 0.12 0.088 0.17 0.1048 0.0258 0.1096 0.1183 0.1178 0.0970 0.1222 0.1718 0.072 0.029 0.094 0.065 0.13 rs34627298 COSM3760742 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.608 0.055 T 0.001 0.067 B 0.001 0.040 B 0.064 0.220 N 1 0.090 P -0.31 0.036 N 2.86 0.105 T 0.32 0.060 N 0.098 0.100 -0.952 0.407 T 0.000 0.000 T . . . 1.065 0.196 11.03 0.870 0.164 0.087 0.144 N c -0.841 -0.747 0.000 0.058 0.563 0.310 0 0.987 0.188 0.214 0.172 1.045 0.669 0.011 0.184 0.960 0.441 3.140 0.060 Armadillo-type fold|SDA1 domain ENSG00000138744.10 Cells_Transformed_fibroblasts 0.1057 0.0228 0.1147 0.0478 0.1125 0.1154 0.0996 0.1138 0.1666 0.0788 0.0269 0.1244 0.0530 0.1045 0.1108 0.0941 0.1202 het 541.63 65 4 76881233 . G T 541.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.609;DP=65;Dels=0.00;FS=3.563;HRun=0;HaplotypeScore=0.9992;MQ=58.07;MQ0=0;MQRankSum=0.582;QD=8.33;ReadPosRankSum=-0.221;VQSLOD=4.6504;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,26:65:99:572,0,1082 4 76955914 76955914 T C exonic CXCL11 nonsynonymous SNV CXCL11:NM_001302123:exon4:c.A313G:p.S105G 0.69 0.73 0.75 0.94 0.51 0.53 0.6092 0.7098 0.8345 0.9456 0.4771 0.5433 0.5984 0.5230 0.59 0.71 0.54 0.67 0.18 rs6532111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6065 0.7158 0.8110 0.6172 0.9489 0.4784 0.5221 0.6068 0.5202 0.6051 0.6993 0.7548 0.6324 0.9542 0.4754 0.5385 0.5377 het 210.41 25 4 76955914 . T C 210.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.594;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9995;MQ=59.07;MQ0=0;MQRankSum=0.481;QD=8.42;ReadPosRankSum=-1.047;VQSLOD=6.4456;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,9:25:99:240,0,417 4 77053834 77053834 T C exonic NUP54 nonsynonymous SNV NUP54:NM_001278603:exon5:c.A605G:p.N202S,NUP54:NM_017426:exon6:c.A749G:p.N250S 0.14 0.22 0.22 0.028 0.17 0.068 0.1496 0.2092 0.2406 0.0229 0.1216 0.1582 0.1678 0.0898 0.17 0.2 0.16 0.17 0.2 rs61750814 COSM3760745 1(large_intestine) . . . . . . . . . . . 0.236 0.179 T 0.085 0.258 B 0.02 0.210 B 0.000 0.843 D 0.000 0.588 P 1.425 0.359 L . . . -1.19 0.303 N 0.027 0.041 -1.081 0.071 T 0.000 0.000 T . . . 1.149 0.205 11.48 0.979 0.361 0.958 0.661 D c 0.005 0.188 0.999 0.391 0.745 0.986 0 5.46 0.799 5.839 0.689 1.061 0.807 1.000 0.715 1.000 0.888 15.541 0.757 . ENSG00000138744.10 Nerve_Tibial 0.1533 0.2085 0.2403 0.1954 0.0235 0.1204 0.1581 0.1850 0.0913 0.1578 0.2107 0.2160 0.2252 0.0240 0.1132 0.1478 0.1503 het 939.77 66 4 77053834 . T C 939.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.326;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5880;MQ=60.00;MQ0=0;MQRankSum=-0.781;QD=14.24;ReadPosRankSum=0.230;VQSLOD=5.3802;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,33:66:99:970,0,942 4 77055474 77055474 A G exonic NUP54 synonymous SNV NUP54:NM_001278603:exon4:c.T420C:p.D140D,NUP54:NM_017426:exon5:c.T564C:p.D188D 0.16 0.057 0.13 0.35 0.13 0.13 0.1531 0.0731 0.1438 0.3477 0.1250 0.1555 0.1655 0.1089 0.12 0.07 0.15 0.17 0.15 rs11097244 COSM3760746 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1517 0.0703 0.1410 0.1735 0.3490 0.1256 0.1509 0.1591 0.1070 0.1381 0.0724 0.1444 0.2020 0.3561 0.1265 0.1540 0.1391 het 670.79 46 4 77055474 . A G 670.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.343;DP=46;Dels=0.00;FS=4.775;HRun=0;HaplotypeScore=0.9665;MQ=58.77;MQ0=0;MQRankSum=-0.011;QD=14.58;ReadPosRankSum=0.543;VQSLOD=5.4297;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,26:46:99:701,0,475 4 77057501 77057501 A G exonic NUP54 synonymous SNV NUP54:NM_001278603:exon3:c.T216C:p.T72T,NUP54:NM_017426:exon4:c.T360C:p.T120T 0.15 0.057 0.13 0.35 0.13 0.13 0.1516 0.0724 0.1424 0.3466 0.1249 0.1536 0.1641 0.1077 0.12 0.07 0.15 0.18 0.15 rs11558468 COSM3760747 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1519 0.0704 0.1409 0.1735 0.3495 0.1259 0.1511 0.1591 0.1070 0.1383 0.0724 0.1444 0.2020 0.3574 0.1271 0.1540 0.1395 het 951.82 85 4 77057501 . A G 951.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.610;DP=85;Dels=0.00;FS=0.823;HRun=1;HaplotypeScore=3.9691;MQ=59.73;MQ0=0;MQRankSum=-1.095;QD=11.20;ReadPosRankSum=-0.919;VQSLOD=4.6921;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,41:85:99:982,0,1157 4 77065318 77065318 - TGT exonic NUP54 nonframeshift insertion NUP54:NM_017426:exon3:c.278_279insACA:p.Q97_T98insQ 0.15 0.057 0.13 0.35 0.13 0.13 0.1516 0.0724 0.1422 0.3469 0.1249 0.1536 0.1641 0.1077 0.12 0.07 0.15 . . rs57577548 COSM5829967 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1517 0.0704 0.1407 0.1733 0.3494 0.1259 0.1509 0.1594 0.1069 0.1380 0.0723 0.1444 0.2020 0.3570 0.1266 0.1536 0.1401 het 6939.64 250 4 77065318 . C CTGT 6939.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.480;DP=250;DS;FS=7.095;HRun=0;HaplotypeScore=849.4540;MQ=58.53;MQ0=0;MQRankSum=2.367;QD=27.76;ReadPosRankSum=-0.387;set=variant2 GT:AD:DP:GQ:PL 0/1:120,124:250:99:6940,0,4434 4 77065580 77065580 T C exonic NUP54 synonymous SNV NUP54:NM_001278603:exon2:c.A114G:p.A38A,NUP54:NM_017426:exon2:c.A114G:p.A38A 0.15 0.057 0.13 0.35 0.13 0.13 0.1516 0.0725 0.1426 0.3468 0.1247 0.1536 0.1641 0.1076 0.12 0.07 0.15 0.17 0.14 rs11558469 COSM149697 1(haematopoietic_and_lymphoid_tissue);1(stomach);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1514 0.0703 0.1395 0.1725 0.3477 0.1258 0.1510 0.1580 0.1060 0.1382 0.0725 0.1435 0.2020 0.3560 0.1265 0.1539 0.1398 het 744.79 81 4 77065580 . T C 744.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.491;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.651;QD=9.19;ReadPosRankSum=0.080;VQSLOD=9.7601;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,38:81:99:775,0,1005 4 77660162 77660162 G C exonic SHROOM3 nonsynonymous SNV SHROOM3:NM_020859:exon5:c.G836C:p.G279A 0.66 0.61 0.7 0.6 0.71 0.73 0.7160 0.6323 0.7062 0.5776 0.7039 0.7460 0.6876 0.7328 0.71 0.63 0.75 0.59 0.73 rs344140 COSM4997999 1(pancreas);1(oesophagus) Benign not_specified RCV000454736.1 MedGen CN169374 . . . . . . 0.697 0.042 T 0.002 0.090 B 0.003 0.080 B 0.982 0.081 N 1 0.090 P 1.115 0.288 L 1.02 0.407 T -0.81 0.223 N 0.011 0.001 -0.903 0.477 T 0.000 0.000 T . . . -2.231 0.005 0.001 0.102 0.001 0.381 0.257 N c -1.451 -1.384 1.000 0.409 0.707 0.730 0 -0.947 0.098 0.849 0.272 -0.919 0.025 0.115 0.229 0.001 0.043 18.386 0.904 . . . 0.7186 0.6257 0.7097 0.7514 0.5878 0.7001 0.7506 0.7199 0.7340 0.6924 0.6254 0.7458 0.7285 0.5903 0.7112 0.7347 0.6867 het 1281.33 95 4 77660162 . G C 1281.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.028;DP=95;Dels=0.00;FS=2.740;HRun=2;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-1.597;QD=13.49;ReadPosRankSum=0.560;VQSLOD=5.6320;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,45:95:99:1311,0,1478 4 77660299 77660299 T G exonic SHROOM3 nonsynonymous SNV SHROOM3:NM_020859:exon5:c.T973G:p.S325A 0.033 0.0045 0.055 0.001 0.072 0.05 0.0631 0.0136 0.0413 0.0008 0.0599 0.0882 0.0883 0.0404 0.067 0.017 0.093 . 0.074 rs61999292 . . Benign not_specified RCV000455435.1 MedGen CN169374 . . . . . . 0.048 0.400 D 0.952 0.522 P 0.444 0.441 B 0.000 0.449 D 0.765 0.295 N 2.685 0.788 M 0.91 0.449 T -1.23 0.312 N 0.063 0.048 -1.111 0.030 T 0.006 0.019 T . . . 1.087 0.198 11.15 0.986 0.436 0.945 0.610 D c 0.253 0.266 1.000 0.747 0.707 0.730 0 3.75 0.421 2.682 0.464 0.144 0.231 1.000 0.715 0.998 0.697 10.162 0.418 . . . 0.0646 0.0131 0.0453 0.1171 0.0003 0.0644 0.0885 0.0832 0.0406 0.0540 0.0154 0.0550 0.1093 0 0.0670 0.0766 0.0764 het 1726.45 132 4 77660299 . T G 1726.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.428;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8647;MQ=58.58;MQ0=0;MQRankSum=1.139;QD=13.08;ReadPosRankSum=-0.146;VQSLOD=4.8773;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,69:132:99:1756,0,1711 4 77660731 77660731 C G exonic SHROOM3 nonsynonymous SNV SHROOM3:NM_020859:exon5:c.C1405G:p.P469A 0.44 0.42 0.49 0.27 0.61 0.43 0.5343 0.4359 0.4963 0.2508 0.5744 0.6119 0.5430 0.4416 0.56 0.44 0.61 0.41 0.63 rs344141 COSM1431106 1(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign not_specified RCV000456076.1 MedGen CN169374 . . . . . . 0.049 0.398 D 1.0 0.899 D 0.996 0.832 D 0.000 0.513 N 0.003 0.438 P 2.075 0.572 M 0.85 0.471 T -3.5 0.681 D 0.077 0.068 -0.896 0.484 T 0.000 0.000 T . . . 0.030 0.096 2.881 0.992 0.551 0.896 0.500 D c 0.275 0.239 1.000 0.747 0.707 0.730 0 4.63 0.570 3.326 0.515 0.852 0.362 1.000 0.715 0.579 0.285 15.816 0.783 . ENSG00000138771.10|ENSG00000138771.10 Brain_Cerebellum|Nerve_Tibial 0.5378 0.4300 0.5062 0.6447 0.2556 0.5739 0.6128 0.5675 0.4466 0.5261 0.4268 0.5586 0.6258 0.2491 0.5773 0.5982 0.5206 het 2729.79 203 4 77660731 . C G 2729.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.839;DP=203;Dels=0.00;FS=0.571;HRun=0;HaplotypeScore=10.0259;MQ=59.55;MQ0=0;MQRankSum=-0.025;QD=13.45;ReadPosRankSum=0.718;VQSLOD=4.2666;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:98,105:203:99:2760,0,2740 4 77675505 77675505 C T exonic SHROOM3 nonsynonymous SNV SHROOM3:NM_020859:exon7:c.C3869T:p.P1290L 0.53 0.66 0.44 0.57 0.39 0.52 0.4609 0.6349 0.4442 0.5527 0.4874 0.4097 0.4084 0.5145 0.48 0.62 0.41 0.54 0.35 rs3733242 . . . . . . . . . . . . . 0.231 0.182 T 0.0 0.026 B 0.0 0.013 B 0.301 0.039 N 1 0.090 P -1.735 0.003 N 2.23 0.181 T 1.53 0.007 N 0.018 0.003 -0.985 0.337 T 0.000 0.000 T . . . -0.169 0.079 1.272 0.479 0.039 0.012 0.043 N c -1.468 -1.438 1.000 0.462 0.707 0.730 0 -1.61 0.079 -0.569 0.059 -0.206 0.101 0.000 0.063 0.000 0.016 7.432 0.261 . . . 0.4550 0.6374 0.4384 0.2417 0.5593 0.4871 0.4183 0.3973 0.5118 0.4988 0.6239 0.4366 0.2285 0.5692 0.4860 0.4339 0.4470 het 3945.03 248 4 77675505 . C T 3945.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.670;DP=248;DS;Dels=0.00;FS=2.206;HRun=0;HaplotypeScore=6.8799;MQ=59.19;MQ0=0;MQRankSum=0.693;QD=15.91;ReadPosRankSum=-0.532;VQSLOD=4.6786;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,114:248:99:3282,0,3365 4 78806415 78806415 C T exonic MRPL1 synonymous SNV MRPL1:NM_020236:exon4:c.C408T:p.N136N 0.019 0.0015 0.026 0.001 0.026 0.05 0.0322 0.0074 0.0143 0.0003 0.0330 0.0378 0.0265 0.0543 0.03 0.0082 0.041 0.011 . rs74550505 COSM3760761 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0329 0.0061 0.0163 0.0331 0.0002 0.0319 0.0406 0.0359 0.0549 0.0263 0.0086 0.0167 0.0232 0.0006 0.0292 0.0395 0.0245 het 659.83 70 4 78806415 . C T 659.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.233;DP=70;Dels=0.00;FS=2.120;HRun=0;HaplotypeScore=0.0000;MQ=58.86;MQ0=0;MQRankSum=0.294;QD=9.43;ReadPosRankSum=-0.454;VQSLOD=5.9645;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,25:70:99:690,0,1036 4 78987157 78987157 A G exonic FRAS1 nonsynonymous SNV FRAS1:NM_001166133:exon2:c.A95G:p.D32G,FRAS1:NM_025074:exon2:c.A95G:p.D32G 0.55 0.75 0.47 0.54 0.42 0.49 0.4563 0.6954 0.5082 0.4962 0.4008 0.4143 0.4391 0.4452 0.49 0.68 0.4 0.56 . rs4859905 COSM3760762;COSM3760763;COSM3760764;COSM3760765 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000251438.1|RCV000309845.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . 1.0 0.632 T 0.0 0.026 B 0.0 0.013 B 0.001 0.410 N 0.998 0.222 P -1.91 0.002 N 0.45 0.565 T 2.19 0.829 N 0.089 0.159 -0.980 0.350 T 0.000 0.000 T . . . 1.773 0.274 14.83 0.515 0.045 0.012 0.043 N c -0.390 -0.172 1.000 0.747 0.757 0.989 0 5.9 0.949 2.805 0.474 0.138 0.222 1.000 0.715 0.999 0.750 12.549 0.554 VWC out|VWFC domain;VWFC domain . . 0.4468 0.6917 0.4966 0.5324 0.4941 0.4028 0.3951 0.4462 0.4359 0.4982 0.6939 0.5227 0.5099 0.4981 0.4014 0.4094 0.4346 hom 657.21 24 4 78987157 . A G 657.21 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.38;VQSLOD=12.8202;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:51.16:690,51,0 4 79353667 79353667 G A exonic FRAS1 nonsynonymous SNV FRAS1:NM_001166133:exon38:c.G5126A:p.R1709Q,FRAS1:NM_025074:exon38:c.G5126A:p.R1709Q . . . . . . 9.129e-06 0 0 0 0 1.634e-05 0 0 . . . . . rs763116888 . . . . . . . . . . . . . 0.661 0.047 T 0.007 0.131 B 0.001 0.063 B 0.225 0.035 N 1 0.090 N -0.46 0.027 N 0.73 0.507 T 0.23 0.046 N 0.089 0.178 -0.876 0.501 T 0.067 0.276 T 0.005 0.113 T -2.722 0.002 0.001 0.337 0.020 0.016 0.051 N c -2.757 -2.873 1.0 0.983 0.672 0.522 0 -12.3 0.000 -1.348 0.027 -3.388 0.001 0.000 0.063 0.000 0.016 8.990 0.350 . . . 2.459e-05 6.594e-05 3.004e-05 0 0 4.511e-05 2.712e-05 0 0 6.457e-05 0.0001 0 0 0 0 6.664e-05 0 het 364.72 34 4 79353667 . G A 364.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.417;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.087;QD=10.73;ReadPosRankSum=0.227;VQSLOD=10.3368;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,14:34:99:395,0,543 4 79387464 79387464 A G exonic FRAS1 nonsynonymous SNV FRAS1:NM_025074:exon50:c.A7132G:p.K2378E 0.97 0.88 0.99 1. 1. 1. 0.9901 0.9035 0.9920 1 1 0.9979 0.9889 0.9999 0.97 0.92 1. 0.98 . rs7684722 . . Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000253922.1|RCV000395153.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.001 0.437 N 0.837 0.287 P -1.205 0.008 N . . . . . . 0.322 0.383 -0.928 0.445 T 0.000 0.000 T . . . 2.178 0.323 17.36 0.986 0.424 0.132 0.175 N c -0.525 -0.221 1.000 0.400 0.707 0.730 0 5.53 0.825 7.764 0.840 0.104 0.200 1.000 0.715 0.999 0.750 14.982 0.708 . . . 0.9913 0.9039 0.9906 0.9893 1 1.0000 0.9983 0.9907 0.9999 0.9755 0.9176 0.9869 0.9934 1 0.9994 0.9987 0.9929 hom 4908.18 153 4 79387464 . A G 4908.18 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.811;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.2434;MQ=59.17;MQ0=0;MQRankSum=1.984;QD=32.08;ReadPosRankSum=-0.185;VQSLOD=9.1779;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,151:153:99:4863,340,0 4 79387586 79387586 A G exonic FRAS1 synonymous SNV FRAS1:NM_025074:exon50:c.A7254G:p.K2418K 0.31 0.11 0.27 0.47 0.27 0.52 0.3120 0.1409 0.3272 0.4741 0.2588 0.2621 0.3350 0.5303 0.21 0.12 0.25 0.28 . rs34840208 COSM3760771;COSM3760772 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Cryptophthalmos_syndrome RCV000398451.1 MedGen:OMIM:SNOMED_CT C0265233:219000:204102004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2978 0.1302 0.2874 0.3114 0.4620 0.2435 0.2494 0.3073 0.5090 0.2277 0.1298 0.2919 0.3179 0.4783 0.2378 0.2482 0.2546 hom 1574.33 49 4 79387586 . A G 1574.33 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;QD=32.13;VQSLOD=9.0859;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1607,126,0 4 79432455 79432455 A C exonic FRAS1 synonymous SNV FRAS1:NM_025074:exon64:c.A9808C:p.R3270R 0.4 0.45 0.29 0.46 0.27 0.52 0.3268 0.4303 0.3214 0.4771 0.2486 0.2499 0.3393 0.5404 0.3 0.39 0.25 0.43 . rs3749488 COSM3760775;COSM3760776 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign Cryptophthalmos_syndrome RCV000367732.1 MedGen:OMIM:SNOMED_CT C0265233:219000:204102004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3224 0.4331 0.3072 0.3302 0.4786 0.2415 0.2488 0.3169 0.5189 0.3051 0.4128 0.3118 0.3245 0.4887 0.2327 0.2422 0.2597 hom 2932.15 102 4 79432455 . A C 2932.15 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.104;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8166;MQ=59.36;MQ0=0;MQRankSum=1.005;QD=28.75;ReadPosRankSum=0.831;VQSLOD=8.0482;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,101:102:99:2965,202,0 4 79443850 79443850 G A exonic FRAS1 nonsynonymous SNV FRAS1:NM_025074:exon69:c.G10696A:p.V3566I 0.51 0.5 0.45 0.46 0.55 0.59 0.5471 0.5240 0.4730 0.5076 0.4843 0.5562 0.5369 0.6175 0.54 0.52 0.55 0.53 . rs931606 COSM5618069;COSM5618070 1(breast) Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000245288.1|RCV000265442.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.205 P 0.84 0.212 L . . . . . . 0.146 0.172 -0.927 0.446 T 0.000 0.000 T . . . 0.721 0.163 8.962 0.184 0.006 0.409 0.263 N c -0.780 -0.554 1.000 0.409 0.707 0.730 0 4.93 0.643 2.461 0.445 0.244 0.267 1.000 0.715 0.442 0.261 4.841 0.128 . ENSG00000138772.8|ENSG00000138772.8 Esophagus_Muscularis|Nerve_Tibial 0.5200 0.5075 0.4266 0.5695 0.4832 0.4582 0.5409 0.5432 0.5986 0.5003 0.5001 0.4462 0.5563 0.4925 0.4548 0.5153 0.4754 hom 584.32 20 4 79443850 . G A 584.32 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.22;VQSLOD=13.9060;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:48.15:617,48,0 4 79455714 79455714 C G exonic FRAS1 synonymous SNV FRAS1:NM_025074:exon71:c.C11037G:p.P3679P 0.52 0.31 0.44 0.78 0.46 0.63 0.4884 0.3385 0.4744 0.7841 0.4452 0.4381 0.5056 0.6524 0.41 0.34 0.44 0.5 . rs4975070 COSM4005805;COSM4005806 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000245809.1|RCV000292730.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4898 0.3384 0.4677 0.5779 0.7897 0.4382 0.4293 0.4974 0.6484 0.4219 0.3465 0.4747 0.5927 0.8187 0.4307 0.4141 0.4306 hom 3731.27 108 4 79455714 . C G 3731.27 Mask AC=2;AF=1.00;AN=2;DP=108;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;QD=34.55;VQSLOD=9.4796;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3731,304,0 4 79455733 79455733 C T exonic FRAS1 synonymous SNV FRAS1:NM_025074:exon71:c.C11056T:p.L3686L 0.52 0.31 0.44 0.78 0.46 0.63 0.4884 0.3384 0.4742 0.7833 0.4451 0.4383 0.5056 0.6523 0.41 0.34 0.44 0.5 . rs4975139 COSM4005808;COSM4005807 1(urinary_tract) Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000250559.1|RCV000333665.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4895 0.3386 0.4672 0.5777 0.7896 0.4380 0.4291 0.4965 0.6480 0.4218 0.3467 0.4736 0.5927 0.8178 0.4301 0.4139 0.4318 hom 2757.66 81 4 79455733 . C T 2757.66 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;QD=34.05;VQSLOD=9.7665;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2791,226,0 4 80329343 80329343 T C exonic GK2 synonymous SNV GK2:NM_033214:exon1:c.A12G:p.P4P 0.29 0.12 0.31 0.46 0.15 0.47 0.2453 0.1593 0.3717 0.4720 0.1770 0.1684 0.2450 0.4535 0.15 0.14 0.16 0.32 0.14 rs6837906 COSM4159223 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2422 0.1495 0.3553 0.1794 0.4619 0.1670 0.1581 0.2142 0.4177 0.1661 0.1409 0.3297 0.1921 0.4610 0.1587 0.1391 0.1955 het 588.09 45 4 80329343 . T C 588.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.447;DP=45;Dels=0.00;FS=3.691;HRun=0;HaplotypeScore=0.7887;MQ=58.12;MQ0=0;MQRankSum=-0.609;QD=13.07;ReadPosRankSum=0.448;VQSLOD=4.8284;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,26:45:99:618,0,545 4 80905990 80905990 C G exonic ANTXR2 nonsynonymous SNV ANTXR2:NM_001145794:exon13:c.G1069C:p.A357P,ANTXR2:NM_001286780:exon13:c.G838C:p.A280P,ANTXR2:NM_001286781:exon13:c.G838C:p.A280P,ANTXR2:NM_058172:exon13:c.G1069C:p.A357P 0.8 0.72 0.82 0.96 0.7 0.84 0.7699 0.7215 0.8744 0.9468 0.7152 0.7285 0.7591 0.8262 0.71 0.72 0.71 0.71 . rs12647691 COSM3760782;COSM3760783 1(large_intestine) Benign Hyaline_fibromatosis_syndrome RCV000284632.1 MedGen:OMIM:SNOMED_CT:SNOMED_CT C2745948:228600:238861002:238867003 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -2.005 0.002 N 2.61 0.407 T 3.92 0.001 N 0.054 0.036 -0.974 0.365 T 0.000 0.000 T . . . -0.108 0.084 1.672 0.151 0.004 0.009 0.034 N c -1.357 -1.190 0.997 0.351 0.706 0.609 0 2.85 0.322 2.566 0.454 -0.459 0.055 0.998 0.411 0.227 0.223 6.124 0.193 Anthrax toxin receptor\x2c extracellular ENSG00000163297.12 Adipose_Subcutaneous 0.7683 0.7171 0.8578 0.7642 0.9403 0.7111 0.7221 0.7457 0.8184 0.7500 0.7339 0.8573 0.8046 0.9468 0.7177 0.7368 0.7705 hom 283.15 11 4 80905990 . C G 283.15 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=53.81;MQ0=0;QD=25.74;VQSLOD=7.2265;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:24.08:316,24,0 4 81884722 81884722 G A exonic C4orf22 nonsynonymous SNV C4orf22:NM_152770:exon6:c.G658A:p.V220I,C4orf22:NM_001206997:exon7:c.G709A:p.V237I 0.81 0.64 0.85 0.94 0.84 0.85 0.8365 0.6653 0.9029 0.9393 0.8901 0.8279 0.8579 0.8565 0.78 0.67 0.83 0.78 0.77 rs1052325 . . . . . . . . . . . . . 0.857 0.032 T 0.0 0.026 B 0.001 0.040 B 0.053 0.228 N 1.000 0.090 P -1.24 0.008 N 1.57 0.293 T 0.36 0.037 N 0.043 0.023 -1.041 0.171 T 0.000 0.000 T . . . 0.779 0.168 9.333 0.701 0.089 0.036 0.087 N c -0.990 -0.831 0.000 0.035 0.487 0.133 0 2.83 0.320 0.878 0.276 -0.109 0.115 0.812 0.296 0.032 0.149 5.714 0.171 . . . 0.8444 0.6599 0.9053 0.7724 0.9359 0.8918 0.8309 0.8329 0.8593 0.8038 0.6597 0.8654 0.7517 0.9452 0.8883 0.8476 0.8480 het 590.02 59 4 81884722 . G A 590.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.812;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.539;QD=10.00;ReadPosRankSum=-0.600;VQSLOD=6.8106;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,28:59:99:620,0,724 4 81967188 81967188 C T exonic BMP3 nonsynonymous SNV BMP3:NM_001201:exon2:c.C613T:p.L205F 1. 1. 1. 1. 1. 1. 0.9996 0.9953 0.9997 1 1 1 0.9989 1 1. 1. 1. 1. 0.98 rs6831040 . . . . . . . . . . . . . 0.128 0.269 T 0.015 0.158 B 0.012 0.149 B 0.020 0.271 N 1 0.090 P 2.43 0.707 M -0.18 0.658 T -1.55 0.375 N 0.057 0.040 -1.057 0.125 T 0.000 0.000 T . . . 1.035 0.193 10.86 0.954 0.263 0.079 0.138 N c -1.227 -1.253 0.000 0.029 0.487 0.133 0 -1.34 0.086 0.302 0.188 -0.352 0.070 0.418 0.261 0.922 0.397 2.880 0.053 Transforming growth factor-beta\x2c N-terminal . . 0.9997 0.9960 0.9996 1 1 1 1 1 1 0.9991 0.9968 0.9988 1 1 1 1 1 hom 8287.72 250 4 81967188 . C T 8287.72 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.7297;MQ=59.32;MQ0=0;QD=33.15;VQSLOD=5.7256;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8287,662,0 4 83582064 83582064 G T exonic SCD5 nonsynonymous SNV SCD5:NM_024906:exon4:c.C736A:p.L246M 0.3 0.079 0.49 0.48 0.29 0.31 0.3256 0.1003 0.5992 0.4532 0.2543 0.3063 0.3227 0.3160 0.24 0.11 0.31 0.23 0.28 rs3733228 COSM4418376 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.0 0.912 D 0.471 0.347 P 0.323 0.401 B . . . 1 0.407 P . . . . . . -0.45 0.148 N 0.03 0.011 -0.883 0.496 T 0.000 0.000 T . . . 0.210 0.114 4.785 0.484 0.040 0.171 0.195 N c -0.343 -0.442 0.468 0.207 0.554 0.246 0 3.92 0.444 1.564 0.358 0.998 0.613 0.005 0.169 0.002 0.062 11.799 0.512 Fatty acid desaturase domain ENSG00000249242.3 Muscle_Skeletal 0.3411 0.0963 0.5824 0.2567 0.4527 0.2650 0.3132 0.3303 0.3224 0.2541 0.1010 0.4988 0.2285 0.4503 0.2593 0.3054 0.2914 het 3080.65 250 4 83582064 . G T 3080.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.907;DP=250;DS;Dels=0.00;FS=12.178;HRun=0;HaplotypeScore=6.3278;MQ=58.59;MQ0=0;MQRankSum=0.456;QD=12.32;ReadPosRankSum=0.412;VQSLOD=3.5586;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:3111,0,3743 4 83582211 83582211 C G exonic SCD5 nonsynonymous SNV SCD5:NM_024906:exon4:c.G589C:p.E197Q 0.61 0.49 0.74 0.62 0.63 0.64 0.6538 0.5069 0.8163 0.6072 0.5836 0.6550 0.6615 0.6792 0.61 0.51 0.66 0.58 0.52 rs3733227 . . . . . . . . . . . . . 0.403 0.104 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.214 P . . . . . . 0.28 0.042 N 0.024 0.007 -0.974 0.363 T 0.000 0.000 T . . . 0.288 0.122 5.578 0.817 0.133 0.000 0.002 N c -0.847 -0.861 0.024 0.136 0.554 0.283 0 3.67 0.411 1.390 0.339 0.101 0.200 0.276 0.249 0.019 0.132 9.397 0.374 Fatty acid desaturase domain ENSG00000145284.7 Cells_Transformed_fibroblasts 0.6616 0.5022 0.8070 0.6708 0.6148 0.5852 0.6556 0.6692 0.6809 0.6045 0.4913 0.7919 0.6333 0.6247 0.5762 0.6618 0.6347 het 2693.09 200 4 83582211 . C G 2693.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.501;DP=200;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0336;MQ=58.77;MQ0=0;MQRankSum=1.161;QD=13.47;ReadPosRankSum=-0.347;VQSLOD=4.8842;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,97:200:99:2723,0,2979 4 83785582 83785582 T C exonic SEC31A nonsynonymous SNV SEC31A:NM_001191049:exon10:c.A1352G:p.N451S,SEC31A:NM_001077206:exon11:c.A1367G:p.N456S,SEC31A:NM_001077207:exon11:c.A1367G:p.N456S,SEC31A:NM_001077208:exon11:c.A1367G:p.N456S,SEC31A:NM_001300744:exon11:c.A1367G:p.N456S,SEC31A:NM_001300745:exon11:c.A1367G:p.N456S,SEC31A:NM_001318119:exon11:c.A1367G:p.N456S,SEC31A:NM_016211:exon11:c.A1367G:p.N456S,SEC31A:NM_001318120:exon13:c.A1367G:p.N456S . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.617 0.067 T 0.0 0.026 B 0.0 0.040 B 0.652 0.105 N 1 0.090 N -0.76 0.017 N 1.45 0.352 T -1.02 0.289 N 0.005 0.022 -1.015 0.254 T 0.028 0.119 T 0.002 0.039 T -3.754 0.000 0.001 0.155 0.004 0.044 0.099 N c -2.598 -2.589 1.000 0.747 0.722 0.854 0 -6.5 0.017 -2.163 0.014 -3.432 0.001 0.000 0.063 0.001 0.043 9.857 0.401 . . . 4.064e-06 0 2.979e-05 0 0 0 0 0 0 3.23e-05 0 0 0 0 0 6.666e-05 0 het 1090.95 75 4 83785582 . T C 1090.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.147;DP=75;Dels=0.00;FS=4.674;HRun=0;HaplotypeScore=0.9734;MQ=59.19;MQ0=0;MQRankSum=0.345;QD=14.55;ReadPosRankSum=1.089;VQSLOD=4.3406;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,40:75:99:1121,0,866 4 83788344 83788344 A T exonic SEC31A synonymous SNV SEC31A:NM_001191049:exon8:c.T993A:p.G331G,SEC31A:NM_001077206:exon9:c.T1008A:p.G336G,SEC31A:NM_001077207:exon9:c.T1008A:p.G336G,SEC31A:NM_001077208:exon9:c.T1008A:p.G336G,SEC31A:NM_001300744:exon9:c.T1008A:p.G336G,SEC31A:NM_001300745:exon9:c.T1008A:p.G336G,SEC31A:NM_001318119:exon9:c.T1008A:p.G336G,SEC31A:NM_016211:exon9:c.T1008A:p.G336G,SEC31A:NM_001318120:exon11:c.T1008A:p.G336G 1. 0.99 1. 1. 1. 1. 0.9990 0.9884 0.9998 1 1 1 1 1 1. 0.99 1. 1. 1. rs2045478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9992 0.9888 0.9997 1 1 1 1 0.9995 1 0.9971 0.9896 1 1 1 1 1 1 hom 4681.83 160 4 83788344 . A T 4681.83 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9916;MQ=59.16;MQ0=0;QD=29.26;VQSLOD=7.4226;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4681,361,0 4 83795806 83795806 T C exonic SEC31A synonymous SNV SEC31A:NM_001191049:exon5:c.A582G:p.R194R,SEC31A:NM_001077206:exon6:c.A597G:p.R199R,SEC31A:NM_001077207:exon6:c.A597G:p.R199R,SEC31A:NM_001077208:exon6:c.A597G:p.R199R,SEC31A:NM_001300744:exon6:c.A597G:p.R199R,SEC31A:NM_001300745:exon6:c.A597G:p.R199R,SEC31A:NM_001318119:exon6:c.A597G:p.R199R,SEC31A:NM_016211:exon6:c.A597G:p.R199R,SEC31A:NM_001318120:exon8:c.A597G:p.R199R 0.35 0.1 0.68 0.26 0.56 0.34 0.5133 0.1760 0.7277 0.2581 0.6214 0.5848 0.4989 0.3771 0.44 0.19 0.57 0.26 0.61 rs10025654 COSM5619291;COSM5619292 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5243 0.1714 0.7114 0.5074 0.2527 0.6067 0.5830 0.5548 0.3777 0.4585 0.1837 0.6647 0.4868 0.2491 0.6126 0.5855 0.5695 het 2077.32 151 4 83795806 . T C 2077.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.747;DP=151;Dels=0.00;FS=3.801;HRun=1;HaplotypeScore=3.8415;MQ=59.09;MQ0=0;MQRankSum=1.703;QD=13.76;ReadPosRankSum=-0.251;VQSLOD=5.1921;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,76:151:99:2107,0,1968 4 83838217 83838217 G A exonic THAP9 nonsynonymous SNV THAP9:NM_024672:exon5:c.G852A:p.M284I,THAP9:NM_001317776:exon6:c.G420A:p.M140I 0.97 0.91 1. 1. 1. 1. 0.9928 0.9283 0.9962 1 1 0.9991 0.9945 0.9991 0.98 0.94 1. 0.99 1. rs1031639 . . . . . . . . . . . . . 0.799 0.031 T 0.0 0.026 B 0.0 0.013 B 0.127 0.028 N 1 0.090 P 0.69 0.170 N 1.94 0.227 T -2.12 0.481 N 0.087 0.083 -1.044 0.161 T 0.000 0.000 T . . . -3.012 0.001 0.001 0.487 0.040 0.013 0.045 N c -2.185 -2.254 0.997 0.354 0.707 0.730 0 -7.84 0.011 -0.497 0.065 -0.932 0.025 0.002 0.151 0.001 0.043 6.357 0.205 . . . 0.9944 0.9271 0.9966 1 1 1 0.9991 0.9963 0.9989 0.9795 0.9284 1 1 1 1 0.9995 0.9959 hom 3914.85 128 4 83838217 . G A 3914.85 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=7.1267;MQ=58.41;MQ0=0;QD=30.35;VQSLOD=5.9487;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,127:128:99:3914,331,0 4 83838262 83838262 G T exonic THAP9 nonsynonymous SNV THAP9:NM_024672:exon5:c.G897T:p.L299F,THAP9:NM_001317776:exon6:c.G465T:p.L155F 0.33 0.065 0.65 0.2 0.55 0.34 0.4939 0.1421 0.7206 0.1999 0.6048 0.5653 0.4747 0.3775 0.42 0.15 0.56 0.25 0.65 rs897945 COSM5425643 2(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.499 0.078 T 0.906 0.480 P 0.272 0.382 B 0.528 0.052 N 0.974 0.255 P 0.73 0.189 N 0.88 0.460 T 2.38 0.003 N 0.111 0.238 -0.952 0.407 T 0.000 0.000 T . . . -0.478 0.057 0.250 0.996 0.749 0.727 0.353 D c -0.241 -0.241 0.474 0.207 0.563 0.310 0 2.85 0.322 0.354 0.197 0.025 0.148 0.879 0.307 0.617 0.292 9.192 0.362 . ENSG00000251022.2|ENSG00000251022.2|ENSG00000251022.2|ENSG00000251022.2|ENSG00000251022.2|ENSG00000168152.8 Artery_Tibial|Brain_Cortex|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial 0.5058 0.1344 0.7049 0.4701 0.1991 0.5953 0.5644 0.5303 0.3765 0.4343 0.1482 0.6478 0.4735 0.1803 0.5976 0.5697 0.5560 het 1629.64 161 4 83838262 . G T 1629.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.271;DP=161;Dels=0.00;FS=11.115;HRun=3;HaplotypeScore=3.5435;MQ=58.89;MQ0=0;MQRankSum=0.026;QD=10.12;ReadPosRankSum=-2.486;VQSLOD=3.4273;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,68:161:99:1660,0,2514 4 83839799 83839799 A G exonic THAP9 nonsynonymous SNV THAP9:NM_024672:exon5:c.A2434G:p.N812D,THAP9:NM_001317776:exon6:c.A2002G:p.N668D 0.97 0.91 1. 1. 1. 1. 0.9930 0.9292 0.9962 1 1 0.9991 0.9945 0.9990 0.98 0.94 1. 0.99 1. rs6535411 . . . . . . . . . . . . . 0.855 0.027 T 0.0 0.026 B 0.0 0.013 B 0.006 0.011 N 1 0.090 P 0 0.065 N -2.65 0.902 D -0.63 0.185 N 0.003 0.001 -0.915 0.462 T 0.000 0.000 T . . . -2.834 0.002 0.001 0.385 0.026 0.021 0.062 N c -1.963 -1.964 0.006 0.112 0.554 0.283 0 -3.23 0.048 -0.454 0.068 -1.618 0.009 0.000 0.063 0.002 0.062 1.372 0.021 . . . 0.9944 0.9273 0.9966 1 1 1 0.9991 0.9962 0.9989 0.9795 0.9285 1 1 1 1 0.9995 0.9959 hom 2595.44 86 4 83839799 . A G 2595.44 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;QD=30.18;VQSLOD=8.6933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2628,199,0 4 83900043 83900043 A G exonic LIN54 synonymous SNV LIN54:NM_001115007:exon3:c.T138C:p.V46V,LIN54:NM_001115008:exon3:c.T138C:p.V46V,LIN54:NM_001288997:exon3:c.T138C:p.V46V,LIN54:NM_194282:exon3:c.T801C:p.V267V 1. 0.99 1. 1. 1. 1. 0.9990 0.9888 0.9997 1 1 1 1 1 1. 0.99 1. 1. 0.95 rs6535422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9993 0.9890 0.9997 1 1 1 1 0.9994 1 0.9972 0.9899 1 1 1 1 1 1 hom 3322.02 101 4 83900043 . A G 3322.02 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=60.00;MQ0=0;QD=32.89;VQSLOD=9.4967;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3322,253,0 4 84191031 84191031 A G exonic COQ2 synonymous SNV COQ2:NM_015697:exon5:c.T894C:p.D298D 0.78 0.83 0.68 0.87 0.74 0.72 0.7380 0.8187 0.6871 0.8450 0.8014 0.7136 0.7438 0.7423 0.74 0.81 0.7 0.75 . rs6535454 . . other|Benign not_specified|Coenzyme_Q10_deficiency\x2c_primary RCV000116808.4|RCV000350741.1 MedGen|MedGen:Orphanet CN169374|CN229570:ORPHA35656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7356 0.8181 0.6994 0.6813 0.8462 0.7945 0.7101 0.7127 0.7430 0.7596 0.8085 0.7098 0.6987 0.8478 0.7975 0.7171 0.7556 het 616.06 43 4 84191031 . A G 616.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.395;DP=43;Dels=0.00;FS=2.162;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.256;QD=14.33;ReadPosRankSum=-0.475;VQSLOD=5.8187;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,23:43:99:646,0,552 4 84230619 84230619 T C exonic HPSE nonsynonymous SNV HPSE:NM_001199830:exon6:c.A746G:p.K249R,HPSE:NM_001098540:exon7:c.A920G:p.K307R,HPSE:NM_001166498:exon8:c.A920G:p.K307R,HPSE:NM_006665:exon8:c.A920G:p.K307R 0.81 0.88 0.68 0.87 0.75 0.83 0.7844 0.8564 0.6833 0.8695 0.7675 0.7786 0.7704 0.7967 0.8 0.85 0.77 0.88 0.72 rs11099592 COSM1131015 1(prostate) . . . . . . . . . . . 0.366 0.117 T 0.035 0.192 B 0.046 0.233 B 0.019 0.274 N 1.000 0.202 P 1.79 0.469 L 1.53 0.304 T -0.88 0.247 N 0.023 0.019 -0.988 0.332 T 0.000 0.000 T . . . 1.029 0.193 10.82 0.870 0.164 0.781 0.382 D c -0.148 -0.008 0.995 0.337 0.615 0.372 0 4.83 0.617 3.995 0.565 1.011 0.635 0.997 0.399 0.992 0.562 7.801 0.282 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000173083.10 Testis 0.7786 0.8564 0.6976 0.7931 0.8698 0.7615 0.7763 0.7690 0.7940 0.7973 0.8583 0.6957 0.8046 0.8844 0.7577 0.7681 0.7847 het 686.17 52 4 84230619 . T C 686.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.652;DP=52;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9965;MQ=57.94;MQ0=0;MQRankSum=0.119;QD=13.20;ReadPosRankSum=-0.725;VQSLOD=5.2915;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,28:52:99:716,0,558 4 84364751 84364751 A G exonic HELQ synonymous SNV HELQ:NM_001297755:exon5:c.T1281C:p.I427I,HELQ:NM_133636:exon6:c.T1482C:p.I494I 0.51 0.45 0.54 0.67 0.38 0.52 0.4668 0.4528 0.6393 0.6643 0.4669 0.4077 0.4581 0.4820 0.42 0.44 0.41 0.54 0.18 rs7665103 COSM3760788 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4555 0.4406 0.6084 0.2628 0.6618 0.4618 0.3992 0.4069 0.4651 0.4518 0.4436 0.5513 0.2715 0.6749 0.4522 0.4286 0.4817 het 797.57 93 4 84364751 . A G 797.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.653;DP=93;Dels=0.00;FS=1.885;HRun=0;HaplotypeScore=0.9665;MQ=59.28;MQ0=0;MQRankSum=-0.329;QD=8.58;ReadPosRankSum=0.036;VQSLOD=6.4059;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,35:93:99:828,0,1500 4 84370091 84370091 A G exonic HELQ synonymous SNV HELQ:NM_001297755:exon3:c.T1036C:p.L346L,HELQ:NM_133636:exon3:c.T1036C:p.L346L 0.41 0.11 0.52 0.68 0.38 0.52 0.4336 0.1408 0.6242 0.6658 0.4627 0.4018 0.4378 0.4725 0.32 0.16 0.41 0.3 0.2 rs13141136 COSM4159241 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4430 0.1384 0.6080 0.2875 0.6665 0.4625 0.4038 0.4018 0.4736 0.3675 0.1501 0.5443 0.2781 0.6743 0.4523 0.4274 0.4608 het 506.64 47 4 84370091 . A G 506.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.230;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5106;MQ=59.83;MQ0=0;MQRankSum=0.544;QD=10.78;ReadPosRankSum=-0.053;VQSLOD=6.4230;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,22:47:99:537,0,691 4 84374480 84374480 C T exonic HELQ nonsynonymous SNV HELQ:NM_001297755:exon2:c.G916A:p.V306I,HELQ:NM_001297758:exon2:c.G805A:p.V269I,HELQ:NM_001297759:exon2:c.G916A:p.V306I,HELQ:NM_133636:exon2:c.G916A:p.V306I 0.66 0.83 0.64 0.68 0.49 0.63 0.5623 0.7728 0.6941 0.6645 0.5178 0.4888 0.5661 0.5987 0.59 0.78 0.5 0.66 0.43 rs1494961 COSM5019195 1(haematopoietic_and_lymphoid_tissue);19(soft_tissue) . . . . . Upper aerodigestive tract cancers 0.89 . 21437268 rs1494961 1E-8 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.361 N 1.000 0.090 P -2.42 0.001 N 0.39 0.574 T 0.06 0.068 N 0.003 0.002 -1.011 0.267 T 0.000 0.000 T . . . 0.595 0.151 8.121 0.639 0.071 0.263 0.227 N c -0.761 -0.510 1.000 0.434 0.707 0.730 0 2.29 0.275 2.424 0.441 0.154 0.240 1.000 0.715 0.990 0.544 5.826 0.177 P-loop containing nucleoside triphosphate hydrolase ENSG00000213608.5|ENSG00000213608.5|ENSG00000163319.6|ENSG00000163312.6|ENSG00000163319.6|ENSG00000163312.6 Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis 0.5622 0.7800 0.6803 0.4493 0.6667 0.5167 0.4927 0.5240 0.5954 0.6032 0.7809 0.6244 0.4470 0.6774 0.5052 0.5188 0.5720 het 1801.22 143 4 84374480 . C T 1801.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.529;DP=143;Dels=0.00;FS=4.163;HRun=1;HaplotypeScore=5.6390;MQ=59.70;MQ0=0;MQRankSum=0.741;QD=12.60;ReadPosRankSum=-1.028;VQSLOD=4.7658;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,71:143:99:1831,0,1949 4 84376743 84376743 A T exonic HELQ nonsynonymous SNV HELQ:NM_001297755:exon1:c.T104A:p.V35E,HELQ:NM_001297758:exon1:c.T104A:p.V35E,HELQ:NM_001297759:exon1:c.T104A:p.V35E,HELQ:NM_133636:exon1:c.T104A:p.V35E 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 1. 1. 1. 0.77 0.97 rs6831595 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.013 N 1 0.090 P -1.24 0.008 N 0.53 0.606 T 1.23 0.014 N 0.056 0.089 -0.964 0.385 T 0.000 0.000 T . . . -1.530 0.016 0.002 0.523 0.046 0.002 0.010 N c -1.848 -1.815 1.000 0.747 0.442 0.072 0 -3.44 0.045 -0.701 0.051 -0.684 0.039 0.000 0.063 0.000 0.016 4.014 0.091 . . . 1.0000 1 1 1 1 1 1.0000 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 6747.30 214 4 84376743 . A T 6747.30 Mask AC=2;AF=1.00;AN=2;DP=214;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0237;MQ=59.59;MQ0=0;QD=31.53;VQSLOD=6.9451;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:6746,545,0 4 84383810 84383810 C T exonic ABRAXAS1 nonsynonymous SNV ABRAXAS1:NM_001345962:exon8:c.G715A:p.A239T,ABRAXAS1:NM_139076:exon9:c.G1042A:p.A348T 0.42 0.12 0.53 0.68 0.38 0.52 0.4308 0.1523 0.6215 0.6643 0.4605 0.3981 0.4317 0.4708 0.33 0.17 0.41 0.34 0.35 rs12642536 COSM3760790 1(skin);1(thyroid);1(large_intestine) Uncertain significance not_specified RCV000476063.1 MedGen CN169374 . . . . . . 0.011 0.564 D 0.822 0.438 P 0.436 0.438 B 0.026 0.259 N 1.000 0.090 P 1.95 0.526 M 0.81 0.485 T -0.7 0.240 N 0.031 0.014 -0.934 0.436 T 0.000 0.000 T . . . 2.475 0.359 19.31 0.989 0.475 0.294 0.236 N c -0.377 -0.480 0.035 0.142 0.707 0.730 0 2.75 0.313 0.560 0.230 0.053 0.162 0.356 0.256 0.057 0.169 10.914 0.461 . ENSG00000213608.5|ENSG00000163312.6|ENSG00000163319.6|ENSG00000163312.6 Brain_Cerebellum|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis 0.4426 0.1527 0.6064 0.2855 0.6674 0.4626 0.4034 0.4028 0.4670 0.3720 0.1635 0.5432 0.2781 0.6768 0.4516 0.4284 0.4652 het 2638.27 240 4 84383810 . C T 2638.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.442;DP=240;DS;Dels=0.00;FS=3.729;HRun=3;HaplotypeScore=6.9503;MQ=58.85;MQ0=0;MQRankSum=-1.021;QD=10.99;ReadPosRankSum=1.090;VQSLOD=4.2593;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:139,101:240:99:2668,0,3967 4 86844835 86844835 A G exonic ARHGAP24 synonymous SNV ARHGAP24:NM_001042669:exon2:c.A18G:p.E6E,ARHGAP24:NM_001287805:exon2:c.A48G:p.E16E,ARHGAP24:NM_001025616:exon4:c.A303G:p.E101E 0.4 0.43 0.37 0.36 0.27 0.53 0.3321 0.4069 0.4464 0.3364 0.2929 0.2664 0.3164 0.4858 0.32 0.4 0.27 0.4 0.25 rs6824722 COSM4003178 1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3338 0.4062 0.4370 0.2800 0.3342 0.2991 0.2653 0.3020 0.4813 0.3137 0.4035 0.3756 0.2781 0.3306 0.2808 0.2652 0.3045 het 897.64 59 4 86844835 . A G 897.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.212;DP=59;Dels=0.00;FS=1.012;HRun=0;HaplotypeScore=1.7608;MQ=58.50;MQ0=0;MQRankSum=0.477;QD=15.21;ReadPosRankSum=-0.758;VQSLOD=5.9296;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,32:59:99:928,0,668 4 86915848 86915848 T C exonic ARHGAP24 synonymous SNV ARHGAP24:NM_001346093:exon6:c.T462C:p.N154N,ARHGAP24:NM_031305:exon6:c.T762C:p.N254N,ARHGAP24:NM_001042669:exon7:c.T756C:p.N252N,ARHGAP24:NM_001287805:exon7:c.T786C:p.N262N,ARHGAP24:NM_001025616:exon9:c.T1041C:p.N347N 0.35 0.47 0.31 0.31 0.22 0.41 0.2809 0.4542 0.3594 0.2886 0.2380 0.2181 0.2775 0.3842 0.3 0.45 0.22 0.37 0.23 rs10003909 COSM4003180;COSM4003181 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2810 0.4578 0.3566 0.2163 0.2860 0.2375 0.2208 0.2481 0.3842 0.2945 0.4574 0.3153 0.2053 0.2694 0.2282 0.2220 0.2418 het 2630.48 223 4 86915848 . T C 2630.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.680;DP=223;DS;Dels=0.00;FS=8.762;HRun=0;HaplotypeScore=1.6006;MQ=59.44;MQ0=0;MQRankSum=-0.651;QD=11.80;ReadPosRankSum=-0.207;VQSLOD=4.7758;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:121,102:223:99:2660,0,3482 4 86915923 86915923 G A exonic ARHGAP24 synonymous SNV ARHGAP24:NM_001346093:exon6:c.G537A:p.R179R,ARHGAP24:NM_031305:exon6:c.G837A:p.R279R,ARHGAP24:NM_001042669:exon7:c.G831A:p.R277R,ARHGAP24:NM_001287805:exon7:c.G861A:p.R287R,ARHGAP24:NM_001025616:exon9:c.G1116A:p.R372R 0.25 0.1 0.29 0.31 0.22 0.41 0.2510 0.1321 0.3458 0.2889 0.2380 0.2165 0.2687 0.3832 0.19 0.14 0.22 0.24 0.2 rs11547776 COSM149706;COSM4003182 1(stomach);4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2572 0.1308 0.3414 0.2010 0.2860 0.2375 0.2199 0.2347 0.3835 0.2032 0.1413 0.2895 0.1854 0.2690 0.2285 0.2207 0.2214 het 3155.42 248 4 86915923 . G A 3155.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.226;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3093;MQ=59.51;MQ0=0;MQRankSum=1.080;QD=12.72;ReadPosRankSum=0.252;VQSLOD=5.6491;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:128,120:248:99:3185,0,3840 4 87684031 87684031 A G exonic PTPN13 synonymous SNV PTPN13:NM_080684:exon21:c.A3132G:p.P1044P,PTPN13:NM_006264:exon23:c.A3648G:p.P1216P,PTPN13:NM_080683:exon24:c.A3705G:p.P1235P,PTPN13:NM_080685:exon24:c.A3705G:p.P1235P 0.71 0.84 0.75 0.69 0.72 0.52 0.7113 0.8311 0.6951 0.7053 0.7275 0.7362 0.7056 0.5477 0.77 0.84 0.73 0.69 . rs710832 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7105 0.8320 0.7055 0.6791 0.7036 0.7288 0.7392 0.7326 0.5486 0.7549 0.8300 0.7267 0.7219 0.7032 0.7344 0.7259 0.7235 het 1349.90 121 4 87684031 . A G 1349.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.433;DP=121;Dels=0.00;FS=1.497;HRun=0;HaplotypeScore=6.8031;MQ=58.75;MQ0=0;MQRankSum=0.601;QD=11.16;ReadPosRankSum=-1.528;VQSLOD=4.6537;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,52:121:99:1380,0,1722 4 87690998 87690998 A G exonic PTPN13 nonsynonymous SNV PTPN13:NM_080684:exon26:c.A3993G:p.I1331M,PTPN13:NM_006264:exon28:c.A4509G:p.I1503M,PTPN13:NM_080683:exon29:c.A4566G:p.I1522M,PTPN13:NM_080685:exon29:c.A4581G:p.I1527M 0.16 0.019 0.23 0.32 0.16 0.14 0.1775 0.0326 0.2632 0.3066 0.2175 0.1787 0.1722 0.1157 0.12 0.035 0.16 0.076 . rs2230600 COSM142771 2(soft_tissue);2(skin);1(prostate) . . . . . . . . . . . 0.22 0.211 T 0.374 0.324 B 0.277 0.395 B 0.158 0.177 N 1.000 0.209 P 1.15 0.294 L 1.67 0.273 T -0.12 0.095 N 0.078 0.106 -0.941 0.425 T 0.000 0.000 T . . . 1.473 0.240 13.17 0.970 0.315 0.270 0.229 N c -0.353 -0.257 0.007 0.114 0.732 0.924 0 3.14 0.350 0.142 0.158 0.190 0.249 0.115 0.229 0.998 0.697 2.036 0.033 PDZ domain ENSG00000251411.1|ENSG00000251411.1 Artery_Tibial|Esophagus_Muscularis 0.1828 0.0325 0.2640 0.1521 0.3065 0.2118 0.1752 0.1860 0.1149 0.1489 0.0369 0.2404 0.1623 0.2688 0.2187 0.1777 0.1779 het 1070.60 80 4 87690998 . A G 1070.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.684;DP=80;Dels=0.00;FS=2.389;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;MQRankSum=1.013;QD=13.38;ReadPosRankSum=-1.303;VQSLOD=6.3643;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,37:80:99:1101,0,1128 4 87706506 87706506 T G exonic PTPN13 nonsynonymous SNV PTPN13:NM_080684:exon36:c.T5668G:p.Y1890D,PTPN13:NM_006264:exon38:c.T6184G:p.Y2062D,PTPN13:NM_080683:exon39:c.T6241G:p.Y2081D,PTPN13:NM_080685:exon39:c.T6256G:p.Y2086D 0.51 0.83 0.46 0.45 0.4 0.27 0.4316 0.7841 0.4136 0.4083 0.4356 0.4224 0.4239 0.2780 0.53 0.78 0.42 0.43 . rs989902 . . . . . . . . . . . . . 0.228 0.190 T 0.0 0.026 B 0.0 0.013 B 0.605 0.109 N 1 0.090 P -1.59 0.004 N 0.78 0.494 T 1.29 0.016 N 0.018 0.003 -0.985 0.339 T 0.000 0.000 T . . . 0.578 0.149 8.005 0.579 0.057 0.001 0.008 N c -1.571 -1.454 0.006 0.111 0.706 0.609 0 2.83 0.320 0.399 0.205 -1.000 0.022 0.084 0.222 0.000 0.016 0.989 0.013 PDZ domain . . 0.4235 0.7901 0.4190 0.4667 0.4104 0.4332 0.4129 0.4385 0.2681 0.5163 0.7807 0.4510 0.5033 0.3894 0.4363 0.4050 0.4146 het 134.35 19 4 87706506 . T G 134.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.169;DP=19;Dels=0.00;FS=1.871;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=2.409;QD=7.07;ReadPosRankSum=0.465;VQSLOD=4.7946;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,7:19:99:164,0,281 4 87809387 87809387 G T exonic C4orf36 nonsynonymous SNV C4orf36:NM_144645:exon3:c.C107A:p.S36Y 0.88 0.71 0.95 0.91 1. 0.92 0.9570 0.7312 0.9699 0.9327 0.9997 0.9938 0.9615 0.9368 0.91 0.73 0.99 0.83 0.96 rs1550931 COSM5425561 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.344 N 1 0.090 P -2.095 0.002 N 1.66 0.275 T 6.61 0.000 N 0.272 0.365 -0.969 0.375 T 0.000 0.000 T . . . -1.531 0.016 0.002 0.079 0.001 0.006 0.027 N c -1.215 -1.060 0.244 0.186 0.554 0.246 0 2.72 0.310 1.325 0.331 -0.258 0.088 0.915 0.316 0.170 0.210 4.201 0.099 . . . 0.9623 0.7262 0.9686 0.9669 0.9298 0.9996 0.9958 0.9690 0.9397 0.9152 0.7294 0.9617 0.9868 0.9302 0.9994 0.9945 0.9674 hom 3380.94 125 4 87809387 . G T 3380.94 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7697;MQ=58.83;MQ0=0;QD=27.05;VQSLOD=7.5949;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3380,259,0 4 88036182 88036182 - AAA exonic AFF1 nonframeshift insertion AFF1:NM_001313960:exon9:c.1090_1091insAAA:p.Q364_A365insK,AFF1:NM_001313959:exon11:c.2176_2177insAAA:p.Q726_A727insK,AFF1:NM_005935:exon11:c.2176_2177insAAA:p.Q726_A727insK,AFF1:NM_001166693:exon12:c.2197_2198insAAA:p.Q733_A734insK . . . . . . . . . . . . . . . . . . . rs373231432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 762.45 91 4 88036182 . C CAAA 762.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.086;DP=91;FS=192.304;HRun=2;HaplotypeScore=664.5367;MQ=59.33;MQ0=0;MQRankSum=2.279;QD=8.38;ReadPosRankSum=-7.262;set=variant2 GT:AD:DP:GQ:PL 0/1:68,4:91:99:801,0,2041 4 88258483 88258483 T C exonic HSD17B11 nonsynonymous SNV HSD17B11:NM_016245:exon7:c.A848G:p.Q283R 0.99 1. 0.99 1. 0.97 0.98 0.9772 0.9944 0.9861 0.9998 0.9843 0.9696 0.9802 0.9763 0.98 0.99 0.97 0.97 0.97 rs9991501 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9772 0.9942 0.9847 0.9922 0.9998 0.9841 0.9669 0.9754 0.9752 0.9756 0.9921 0.9761 0.9868 0.9994 0.9814 0.9616 0.9796 hom 4813.55 173 4 88258483 . T C 4813.55 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.33;MQ0=0;QD=27.82;VQSLOD=7.4935;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:4812,379,0 4 88293887 88293887 G A exonic HSD17B11 synonymous SNV HSD17B11:NM_016245:exon4:c.C531T:p.V177V 0.29 0.58 0.29 0.005 0.33 0.14 0.2828 0.5433 0.2791 0.0036 0.2690 0.3138 0.2720 0.1487 0.39 0.54 0.31 0.4 0.4 rs6531985 COSM3760801 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2790 0.5447 0.2827 0.4061 0.0039 0.2810 0.3071 0.2871 0.1518 0.3600 0.5375 0.3115 0.3940 0.0031 0.2893 0.3175 0.3047 het 1587.15 146 4 88293887 . G A 1587.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.550;DP=146;Dels=0.00;FS=2.994;HRun=1;HaplotypeScore=3.4553;MQ=59.13;MQ0=0;MQRankSum=0.728;QD=10.87;ReadPosRankSum=-0.108;VQSLOD=6.2100;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,64:146:99:1617,0,2015 4 88401616 88401616 A G exonic SPARCL1 synonymous SNV SPARCL1:NM_001291977:exon7:c.T1350C:p.D450D,SPARCL1:NM_004684:exon9:c.T1725C:p.D575D,SPARCL1:NM_001128310:exon10:c.T1725C:p.D575D,SPARCL1:NM_001291976:exon10:c.T1350C:p.D450D 0.75 0.9 0.79 0.63 0.6 0.78 0.6714 0.8604 0.8123 0.6499 0.5554 0.6018 0.6421 0.7944 0.69 0.85 0.61 0.79 0.6 rs9933 COSM5468381 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6721 0.8599 0.8097 0.6835 0.6495 0.5587 0.6005 0.6353 0.7882 0.6719 0.8522 0.7733 0.6821 0.6304 0.5688 0.5930 0.6186 hom 4359.16 135 4 88401616 . A G 4359.16 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3892;MQ=57.85;MQ0=0;QD=32.29;VQSLOD=7.9877;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4359,340,0 4 88412806 88412806 T C exonic SPARCL1 nonsynonymous SNV SPARCL1:NM_001291977:exon3:c.A880G:p.T294A,SPARCL1:NM_004684:exon5:c.A1255G:p.T419A,SPARCL1:NM_001128310:exon6:c.A1255G:p.T419A,SPARCL1:NM_001291976:exon6:c.A880G:p.T294A 0.22 0.51 0.13 0.15 0.12 0.062 0.1438 0.4706 0.0761 0.1560 0.0931 0.1274 0.1156 0.0671 0.24 0.45 0.13 0.25 0.18 rs1130643 COSM4419447 1(haematopoietic_and_lymphoid_tissue);5(soft_tissue) . . . . . . . . . . . 0.562 0.063 T 0.001 0.067 B 0.0 0.013 B 0.459 0.049 N 1 0.090 P 0.515 0.136 N -2.5 0.892 D -0.5 0.166 N 0.019 0.004 -1.031 0.201 T 0.000 0.000 T . . . -1.578 0.015 0.002 0.317 0.018 0.078 0.136 N c -1.517 -1.546 0.992 0.327 0.554 0.246 0 -4.28 0.035 -0.251 0.088 -0.323 0.076 0.000 0.063 0.000 0.016 1.818 0.029 . ENSG00000272856.1|ENSG00000272856.1|ENSG00000170502.8 Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Pancreas 0.1347 0.4699 0.0839 0.1438 0.1580 0.0957 0.1269 0.1202 0.0667 0.2099 0.4454 0.0990 0.1192 0.1541 0.1025 0.1166 0.1436 het 2204.78 196 4 88412806 . T C 2204.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.234;DP=196;Dels=0.00;FS=2.476;HRun=0;HaplotypeScore=4.6513;MQ=59.04;MQ0=0;MQRankSum=-0.399;QD=11.25;ReadPosRankSum=-1.045;VQSLOD=5.3812;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:105,91:196:99:2235,0,2569 4 88415636 88415636 G C exonic SPARCL1 nonsynonymous SNV SPARCL1:NM_004684:exon4:c.C316G:p.H106D,SPARCL1:NM_001128310:exon5:c.C316G:p.H106D 0.58 0.88 0.5 0.44 0.38 0.56 0.4568 0.8209 0.5035 0.4353 0.3772 0.3743 0.4526 0.5717 0.52 0.81 0.37 0.67 0.39 rs1049544 COSM149708 1(haematopoietic_and_lymphoid_tissue);1(stomach);15(soft_tissue);5(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.007 0.316 N 1 0.189 P -1.83 0.003 N 1.05 0.400 T 1.62 0.006 N 0.164 0.198 -0.962 0.388 T 0.000 0.000 T . . . -1.201 0.025 0.007 0.399 0.028 0.000 0.002 N c -1.318 -1.193 0.645 0.221 0.554 0.246 0 4.25 0.495 0.543 0.228 0.067 0.174 0.000 0.063 0.002 0.062 7.981 0.292 . ENSG00000152583.8|ENSG00000198189.6|ENSG00000198189.6|ENSG00000152583.8 Adipose_Subcutaneous|Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.4491 0.8215 0.4991 0.4471 0.4301 0.3859 0.3677 0.4279 0.5652 0.5016 0.8045 0.4676 0.4603 0.4151 0.3973 0.3661 0.4306 hom 3752.56 114 4 88415636 . G C 3752.56 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=58.84;MQ0=0;QD=32.92;VQSLOD=8.9352;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3752,295,0 4 88416188 88416188 G T exonic SPARCL1 nonsynonymous SNV SPARCL1:NM_004684:exon3:c.C146A:p.A49D,SPARCL1:NM_001128310:exon4:c.C146A:p.A49D 0.58 0.88 0.5 0.44 0.38 0.56 0.4566 0.8209 0.5027 0.4346 0.3772 0.3742 0.4526 0.5715 0.52 0.81 0.37 0.66 0.37 rs13051 COSM149709 1(breast);1(haematopoietic_and_lymphoid_tissue);1(stomach);1(kidney);5(prostate);1(large_intestine) . . . . . . . . . . . 0.932 0.060 T 0.0 0.026 B 0.0 0.013 B 0.051 0.230 N 1.000 0.588 P -1.1 0.010 N 0.95 0.496 T 1.4 0.008 N 0.196 0.282 -0.993 0.319 T 0.000 0.000 T . . . 0.034 0.097 2.917 0.166 0.005 0.035 0.086 N c -1.034 -0.858 0.264 0.188 0.554 0.283 0 3.02 0.338 0.951 0.285 -0.286 0.084 0.802 0.295 0.054 0.167 8.876 0.343 . ENSG00000152583.8|ENSG00000198189.6|ENSG00000152583.8 Adipose_Subcutaneous|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.4483 0.8217 0.4978 0.4469 0.4296 0.3857 0.3674 0.4261 0.5632 0.5016 0.8045 0.4690 0.4603 0.4178 0.3978 0.3658 0.4308 hom 5554.21 204 4 88416188 . G T 5554.21 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.155;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4686;MQ=58.32;MQ0=0;MQRankSum=1.443;QD=27.23;ReadPosRankSum=1.511;VQSLOD=4.8043;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,203:204:99:5521,401,0 4 88416223 88416223 A G exonic SPARCL1 synonymous SNV SPARCL1:NM_004684:exon3:c.T111C:p.P37P,SPARCL1:NM_001128310:exon4:c.T111C:p.P37P 0.75 0.92 0.79 0.63 0.6 0.78 0.6725 0.8727 0.8130 0.6504 0.5558 0.6017 0.6402 0.7939 0.69 0.86 0.61 0.77 0.6 rs8342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6729 0.8720 0.8106 0.6811 0.6500 0.5590 0.6006 0.6359 0.7871 0.6744 0.8625 0.7722 0.6788 0.6315 0.5686 0.5922 0.6224 hom 5376.94 182 4 88416223 . A G 5376.94 Mask AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.2082;MQ=58.87;MQ0=0;QD=29.54;VQSLOD=7.7975;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5376,418,0 4 88583135 88583135 A T exonic DMP1 nonsynonymous SNV DMP1:NM_001079911:exon5:c.A157T:p.S53C,DMP1:NM_004407:exon6:c.A205T:p.S69C 0.29 0.26 0.33 0.43 0.23 0.21 0.2813 0.2910 0.4038 0.4172 0.3359 0.2543 0.2566 0.2073 0.28 0.3 0.27 0.34 0.25 rs10019009 COSM3760816 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Hypophosphatemic_Rickets\x2c_Recessive RCV000349283.1 MedGen CN239452 . . . . . . 0.018 0.784 D 1.0 0.899 D 0.943 0.697 D 0.000 0.513 D 0.818 0.289 P 2.395 0.694 M 0.37 0.577 T -0.44 0.146 N 0.189 0.236 -0.951 0.408 T 0.000 0.000 T . . . 3.576 0.487 23.2 0.986 0.431 0.836 0.424 D c 0.320 0.234 0.000 0.062 0.500 0.196 0 4.14 0.477 2.307 0.431 1.199 0.960 0.955 0.331 0.044 0.160 9.467 0.378 . . . 0.2865 0.2917 0.3937 0.1061 0.4191 0.3418 0.2611 0.2515 0.2085 0.2971 0.2927 0.3816 0.0960 0.4333 0.3611 0.2707 0.2781 het 1781.77 125 4 88583135 . A T 1781.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.369;DP=125;Dels=0.00;FS=0.664;HRun=0;HaplotypeScore=0.9916;MQ=58.95;MQ0=0;MQRankSum=-0.389;QD=14.25;ReadPosRankSum=1.166;VQSLOD=5.9170;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,67:125:99:1812,0,1368 4 88732531 88732531 T C exonic IBSP synonymous SNV IBSP:NM_004967:exon7:c.T423C:p.N141N 0.74 0.91 0.73 0.59 0.76 0.65 0.7438 0.8972 0.7521 0.5889 0.7120 0.7624 0.7167 0.6587 0.81 0.89 0.77 0.87 0.74 rs4693878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7399 0.9011 0.7503 0.8074 0.5838 0.7233 0.7600 0.7569 0.6484 0.7842 0.8913 0.7739 0.8079 0.5737 0.7357 0.7602 0.7163 hom 2564.92 80 4 88732531 . T C 2564.92 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.689;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.40;MQ0=0;MQRankSum=-0.043;QD=32.06;ReadPosRankSum=0.303;VQSLOD=9.2360;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,79:80:99:2598,205,0 4 88732692 88732692 G A exonic IBSP nonsynonymous SNV IBSP:NM_004967:exon7:c.G584A:p.G195E 0.19 0.019 0.28 0.11 0.33 0.31 0.2932 0.0551 0.3357 0.1213 0.3441 0.3311 0.3121 0.3286 0.23 0.065 0.32 0.15 0.3 rs1054627 COSM3760819 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . Bone mineral density . -0.05 21533022 rs1054627 8E-7 0.58 0.060 T 0.232 0.290 B 0.206 0.354 B 0.018 0.275 N 1 0.090 P 2.595 0.761 M 2.46 0.149 T -1.24 0.314 N 0.061 0.045 -0.975 0.361 T 0.000 0.000 T . . . 1.226 0.213 11.88 0.923 0.211 0.041 0.094 N c -0.631 -0.701 0.093 0.162 0.487 0.133 0 2.19 0.268 1.515 0.352 0.902 0.416 0.919 0.317 0.413 0.256 6.240 0.199 . ENSG00000029559.5|ENSG00000029559.5|ENSG00000029559.5 Brain_Frontal_Cortex_BA9|Esophagus_Muscularis|Muscle_Skeletal 0.2989 0.0522 0.3230 0.4575 0.1226 0.3539 0.3187 0.3154 0.3284 0.2450 0.0618 0.3249 0.4867 0.1231 0.3528 0.3259 0.3065 het 1210.08 86 4 88732692 . G A 1210.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.926;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9967;MQ=58.75;MQ0=0;MQRankSum=-0.761;QD=14.07;ReadPosRankSum=-0.744;VQSLOD=6.3549;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,48:86:99:1240,0,973 4 88732746 88732746 A G exonic IBSP nonsynonymous SNV IBSP:NM_004967:exon7:c.A638G:p.D213G 0.74 0.91 0.73 0.59 0.76 0.65 0.7410 0.8972 0.7506 0.5868 0.7107 0.7617 0.7135 0.6466 0.81 0.89 0.77 0.87 0.7 rs13144371 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.042 0.239 N 1 0.090 P -2.56 0.000 N 3.16 0.077 T 0.55 0.027 N 0.015 0.002 -1.031 0.201 T 0.000 0.000 T . . . -0.182 0.077 1.196 0.187 0.006 0.005 0.023 N c -1.579 -1.435 0.111 0.167 0.487 0.133 0 2.57 0.298 -0.504 0.064 -1.058 0.020 0.000 0.063 0.007 0.100 3.596 0.075 . . . 0.7389 0.9014 0.7494 0.8074 0.5822 0.7213 0.7596 0.7561 0.6470 0.7842 0.8918 0.7751 0.8079 0.5769 0.7356 0.7597 0.7159 hom 2458.97 77 4 88732746 . A G 2458.97 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;QD=31.93;VQSLOD=9.3797;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2492,196,0 4 88732763 88732763 A G exonic IBSP nonsynonymous SNV IBSP:NM_004967:exon7:c.A655G:p.R219G 0.26 0.4 0.27 0.23 0.19 0.17 0.2102 0.3776 0.2127 0.2117 0.1565 0.2033 0.1851 0.1526 0.27 0.36 0.22 0.34 0.23 rs17013181 COSM3760820 1(large_intestine) . . . . . . . . . . . 0.23 0.183 T 0.0 0.026 B 0.0 0.013 B 0.526 0.052 N 1 0.090 P -0.29 0.037 N 2.73 0.119 T 0.33 0.039 N 0.025 0.007 -0.903 0.477 T 0.000 0.000 T . . . 0.436 0.136 6.923 0.832 0.141 0.002 0.011 N c -1.118 -1.102 0.240 0.186 0.487 0.133 0 3.27 0.364 0.210 0.171 -0.401 0.062 0.000 0.063 0.000 0.016 7.409 0.260 . . . 0.2073 0.3859 0.2250 0.1178 0.2035 0.1527 0.2129 0.2056 0.1495 0.2432 0.3697 0.2303 0.0993 0.1876 0.1581 0.2032 0.1918 het 601.59 72 4 88732763 . A G 601.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.217;DP=72;Dels=0.00;FS=2.036;HRun=2;HaplotypeScore=1.9957;MQ=59.42;MQ0=0;MQRankSum=0.463;QD=8.36;ReadPosRankSum=-0.674;VQSLOD=6.3536;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,26:72:99:632,0,1322 4 88732911 88732911 C T exonic IBSP nonsynonymous SNV IBSP:NM_004967:exon7:c.C803T:p.A268V 0.21 0.27 0.25 0.29 0.13 0.11 0.1646 0.2589 0.2559 0.2781 0.1256 0.1414 0.1305 0.0933 0.19 0.26 0.15 0.27 0.16 rs1054628 COSM3760821 1(bone);1(large_intestine) . . . . . . . . . . . 0.117 0.282 T 0.017 0.163 B 0.042 0.227 B 0.284 0.149 N 1.000 0.209 P 1.1 0.281 L 2.55 0.138 T -1.17 0.299 N 0.06 0.044 -0.932 0.438 T 0.000 0.000 T . . . 3.852 0.520 23.4 0.997 0.812 0.117 0.166 N c -0.599 -0.502 0.416 0.202 0.487 0.133 0 3.47 0.387 0.626 0.240 0.653 0.293 0.017 0.192 0.854 0.356 13.244 0.593 . . . 0.1656 0.2591 0.2567 0.0589 0.2651 0.1220 0.1492 0.1481 0.0918 0.1823 0.2552 0.2363 0.0530 0.2413 0.1299 0.1471 0.1592 het 1015.42 86 4 88732911 . C T 1015.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.866;DP=86;Dels=0.00;FS=4.337;HRun=0;HaplotypeScore=0.9894;MQ=59.22;MQ0=0;MQRankSum=1.797;QD=11.81;ReadPosRankSum=-0.697;VQSLOD=5.9131;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,40:86:99:1045,0,1312 4 88732918 88732918 A T exonic IBSP nonsynonymous SNV IBSP:NM_004967:exon7:c.A810T:p.E270D 0.19 0.0083 0.28 0.11 0.33 0.31 0.2947 0.0511 0.3362 0.1214 0.3450 0.3333 0.3135 0.3320 0.23 0.06 0.32 0.14 0.32 rs1054629 COSM3760822 1(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.129 0.268 T 0.189 0.277 B 0.207 0.355 B 0.010 0.302 N 0.998 0.225 P 2.79 0.817 M 2.52 0.142 T -0.95 0.253 N 0.076 0.067 -0.949 0.413 T 0.000 0.000 T . . . 3.361 0.462 22.9 0.995 0.702 0.092 0.148 N c -0.582 -0.595 0.058 0.151 0.487 0.133 0 0.073 0.136 -0.243 0.089 1.028 0.649 0.467 0.265 0.988 0.529 1.913 0.031 . ENSG00000029559.5|ENSG00000029559.5|ENSG00000029559.5 Brain_Frontal_Cortex_BA9|Esophagus_Muscularis|Muscle_Skeletal 0.2992 0.0480 0.3227 0.4571 0.1224 0.3543 0.3201 0.3153 0.3288 0.2441 0.0589 0.3246 0.4868 0.1205 0.3526 0.3264 0.3086 het 1224.87 90 4 88732918 . A T 1224.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.570;DP=90;Dels=0.00;FS=4.225;HRun=1;HaplotypeScore=2.6565;MQ=59.26;MQ0=0;MQRankSum=0.085;QD=13.61;ReadPosRankSum=1.183;VQSLOD=5.6731;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,46:90:99:1255,0,1185 4 89311962 89311962 T C exonic HERC6 nonsynonymous SNV HERC6:NM_001165136:exon4:c.T595C:p.C199R,HERC6:NM_017912:exon4:c.T595C:p.C199R 0.082 0.0038 0.18 0.12 0.093 0.068 0.0966 0.0204 0.2115 0.1043 0.0890 0.0932 0.0938 0.0763 0.067 0.022 0.09 0.087 . rs12510688 COSM4419448;COSM4419449 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.012 0.784 D 0.202 0.281 B 0.19 0.347 B 0.007 0.316 N 0.001 0.452 P -0.3 0.036 N -1.29 0.795 T -1.23 0.401 N 0.055 0.461 -1.019 0.241 T 0.001 0.002 T . . . 3.606 0.491 23.2 0.996 0.745 0.948 0.621 D c -0.193 -0.033 0.047 0.147 0.638 0.428 0 3.42 0.381 4.594 0.605 0.043 0.157 0.996 0.391 0.995 0.604 9.622 0.387 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II . . 0.1023 0.0189 0.2113 0.0814 0.1079 0.0945 0.0906 0.1080 0.0753 0.0704 0.0223 0.1850 0.0861 0.1057 0.0910 0.0810 0.1018 het 632.65 54 4 89311962 . T C 632.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.851;DP=54;Dels=0.00;FS=1.067;HRun=1;HaplotypeScore=0.6651;MQ=57.73;MQ0=0;MQRankSum=0.242;QD=11.72;ReadPosRankSum=0.121;VQSLOD=5.2028;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,27:54:99:663,0,726 4 89415396 89415396 T C exonic HERC5 synonymous SNV HERC5:NM_016323:exon18:c.T2358C:p.L786L 1. 1. 1. 1. 1. 1. 0.9988 0.9997 1 1 1 0.9979 1 1 1. 1. 1. 1. 0.98 rs6857425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9987 0.9996 0.9998 1 1 1.0000 0.9972 0.9998 1 0.9985 0.9990 1 1 1 1 0.9975 1 hom 2630.66 88 4 89415396 . T C 2630.66 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7569;MQ=59.06;MQ0=0;QD=29.56;VQSLOD=7.8032;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2664,205,0 4 89625388 89625388 A T exonic HERC3 nonsynonymous SNV HERC3:NM_001271602:exon23:c.A2443T:p.M815L,HERC3:NM_014606:exon24:c.A2797T:p.M933L 0.0012 0.0008 . . 0.005 . 0.0020 0.0007 0.0003 0 0.0008 0.0034 0 0.0002 0.0033 0.0007 0.0047 . . rs61750820 . . . . . . . . . . . . . 0.175 0.224 T 0.997 0.689 D 0.99 0.774 D 0.000 0.843 D 1 0.810 D -0.325 0.035 N 0.98 0.421 T -1.26 0.318 N 0.855 0.842 -1.037 0.182 T 0.075 0.302 T 0.015 0.362 T 4.923 0.662 25.0 0.957 0.270 0.991 0.913 D c 0.363 0.458 1.000 0.747 0.706 0.609 0 5.26 0.734 9.325 0.960 1.199 0.960 1.000 0.715 0.999 0.750 15.353 0.740 HECT domain . . 0.0024 0.0006 0.0006 0 0 0.0008 0.0048 0.0005 0.0002 0.0026 0.0010 0 0 0 0.0003 0.0047 0.0020 het 2140.76 162 4 89625388 . A T 2140.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.379;DP=162;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4984;MQ=59.11;MQ0=0;MQRankSum=-0.594;QD=13.21;ReadPosRankSum=2.586;VQSLOD=4.3608;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,77:162:99:2171,0,2276 4 90169925 90169925 A G exonic GPRIN3 nonsynonymous SNV GPRIN3:NM_198281:exon2:c.T1337C:p.V446A 0.62 0.76 0.35 0.55 0.57 0.75 0.5613 0.7271 0.3563 0.6000 0.5230 0.5300 0.5661 0.7217 0.6 0.72 0.54 0.66 0.48 rs7653897 COSM3760833 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.127 0.028 N 1 0.090 P -0.46 0.027 N 3.09 0.084 T 1.06 0.013 N 0.005 0.000 -0.990 0.325 T 0.000 0.000 T . . . -3.600 0.000 0.001 0.201 0.007 0.007 0.031 N c -2.800 -2.860 1.0 0.983 0.554 0.246 0 -10.8 0.002 -1.502 0.024 -4.492 0.000 0.000 0.063 0.000 0.016 2.434 0.042 . . . 0.5496 0.7235 0.3688 0.5581 0.5962 0.5291 0.5308 0.5319 0.7177 0.5806 0.7122 0.4007 0.5633 0.6130 0.5212 0.5280 0.5306 het 1384.43 111 4 90169925 . A G 1384.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.014;DP=111;Dels=0.00;FS=3.635;HRun=0;HaplotypeScore=0.6651;MQ=59.58;MQ0=0;MQRankSum=0.599;QD=12.47;ReadPosRankSum=-1.082;VQSLOD=6.4811;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,56:111:99:1414,0,1563 4 94316763 94316763 T G exonic GRID2 synonymous SNV GRID2:NM_001286838:exon8:c.T966G:p.G322G,GRID2:NM_001510:exon9:c.T1251G:p.G417G 0.76 0.96 0.6 0.73 0.63 0.75 0.6722 0.9280 0.5212 0.7458 0.6789 0.6330 0.6817 0.7330 0.73 0.92 0.63 0.79 0.62 rs1385405 COSM1130993 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6614 0.9305 0.5275 0.6338 0.7511 0.6827 0.6288 0.6648 0.7337 0.7234 0.9192 0.5861 0.6887 0.7450 0.6813 0.6281 0.6738 het 1366.36 86 4 94316763 . T G 1366.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.481;DP=86;Dels=0.00;FS=3.208;HRun=2;HaplotypeScore=4.6617;MQ=58.97;MQ0=0;MQRankSum=-0.219;QD=15.89;ReadPosRankSum=0.951;VQSLOD=5.1488;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,54:86:99:1396,0,681 4 95170839 95170839 G A exonic SMARCAD1 nonsynonymous SNV SMARCAD1:NM_001128429:exon7:c.G740A:p.S247N,SMARCAD1:NM_001128430:exon7:c.G740A:p.S247N,SMARCAD1:NM_020159:exon7:c.G740A:p.S247N 0.46 0.2 0.54 0.7 0.38 0.59 0.4560 0.2321 0.6539 0.7183 0.3866 0.3987 0.4305 0.5813 0.34 0.24 0.39 0.33 0.43 rs11722476 COSM1130990 1(haematopoietic_and_lymphoid_tissue);1(skin);5(prostate);1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.504 0.076 T 0.0 0.026 B 0.0 0.013 B 0.526 0.117 N 1.000 0.204 P -0.205 0.041 N 3.46 0.053 T -0.74 0.208 N 0.008 0.000 -1.049 0.147 T 0.000 0.000 T . . . 1.304 0.221 12.29 0.783 0.118 0.544 0.294 D c -0.520 -0.360 0.247 0.186 0.732 0.924 0 0.199 0.144 0.176 0.165 0.135 0.219 0.984 0.356 0.998 0.697 2.208 0.037 . . . 0.4661 0.2353 0.6371 0.3940 0.7087 0.3903 0.4003 0.4325 0.5805 0.3698 0.2431 0.5577 0.3808 0.6937 0.3898 0.3906 0.4141 het 1189.59 121 4 95170839 . G A 1189.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.908;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7776;MQ=59.15;MQ0=0;MQRankSum=-0.076;QD=9.83;ReadPosRankSum=-0.649;VQSLOD=6.4287;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,54:121:99:1220,0,1607 4 95173779 95173779 T C exonic SMARCAD1 nonsynonymous SNV SMARCAD1:NM_001128429:exon9:c.T902C:p.V301A,SMARCAD1:NM_001128430:exon9:c.T902C:p.V301A,SMARCAD1:NM_020159:exon9:c.T902C:p.V301A 0.73 0.96 0.71 0.71 0.57 0.64 0.6931 0.9123 0.7844 0.7480 0.6273 0.6419 0.6396 0.6721 0.7 0.91 0.6 0.75 0.17 rs7439869 COSM1431833 3(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.054 0.227 N 1 0.090 P -0.805 0.016 N 3.85 0.037 T 0.68 0.022 N 0.015 0.002 -1.002 0.294 T 0.000 0.000 T . . . -1.679 0.013 0.002 0.174 0.005 0.004 0.019 N c -1.124 -0.955 0.998 0.369 0.732 0.924 0 4.4 0.522 1.577 0.359 0.016 0.142 0.672 0.281 0.973 0.468 10.567 0.442 . . . 0.6371 0.9133 0.7375 0.5549 0.7089 0.5745 0.5792 0.6139 0.6409 0.6889 0.9082 0.7220 0.5662 0.6935 0.5677 0.5928 0.6365 het 266.31 33 4 95173779 . T C 266.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.071;DP=33;Dels=0.00;FS=3.142;HRun=0;HaplotypeScore=2.5873;MQ=59.30;MQ0=0;MQRankSum=-0.313;QD=8.07;ReadPosRankSum=0.092;VQSLOD=5.5545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,13:33:99:296,0,524 4 95186055 95186055 A G exonic SMARCAD1 synonymous SNV SMARCAD1:NM_001254949:exon2:c.A189G:p.Q63Q,SMARCAD1:NM_001128429:exon10:c.A1479G:p.Q493Q,SMARCAD1:NM_001128430:exon10:c.A1479G:p.Q493Q,SMARCAD1:NM_020159:exon10:c.A1479G:p.Q493Q 0.34 0.067 0.35 0.5 0.37 0.48 0.3912 0.1126 0.3894 0.5158 0.3681 0.3956 0.3906 0.4890 0.29 0.12 0.38 0.23 0.36 rs2306802 COSM1130988 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3885 0.1094 0.3716 0.3873 0.5073 0.3729 0.3905 0.3816 0.4848 0.3124 0.1199 0.3684 0.3742 0.5149 0.3720 0.3804 0.3781 het 309.81 38 4 95186055 . A G 309.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.523;DP=38;Dels=0.00;FS=1.921;HRun=0;HaplotypeScore=0.9958;MQ=57.43;MQ0=0;MQRankSum=0.462;QD=8.15;ReadPosRankSum=-0.769;VQSLOD=4.3447;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,13:38:99:340,0,734 4 95197520 95197520 C T exonic SMARCAD1 synonymous SNV SMARCAD1:NM_001254949:exon7:c.C549T:p.D183D,SMARCAD1:NM_001128429:exon15:c.C1839T:p.D613D,SMARCAD1:NM_001128430:exon15:c.C1839T:p.D613D,SMARCAD1:NM_020159:exon15:c.C1839T:p.D613D 0.56 0.34 0.66 0.7 0.56 0.63 0.5892 0.3704 0.7247 0.7172 0.5737 0.5741 0.5684 0.6336 0.51 0.38 0.58 0.45 0.53 rs6823404 COSM1130987 1(bone);1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5982 0.3700 0.7186 0.5269 0.7088 0.5764 0.5778 0.5867 0.6328 0.5336 0.3786 0.6802 0.5298 0.6914 0.5657 0.5871 0.5959 het 784.82 87 4 95197520 . C T 784.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.337;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6373;MQ=58.35;MQ0=0;MQRankSum=-0.144;QD=9.02;ReadPosRankSum=-0.057;VQSLOD=4.8825;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,33:87:99:815,0,1353 4 95496882 95496882 C T exonic PDLIM5 nonsynonymous SNV PDLIM5:NM_001256428:exon4:c.C41T:p.S14F,PDLIM5:NM_006457:exon5:c.C407T:p.S136F 0.22 0.11 0.24 0.38 0.31 0.13 0.2620 0.1300 0.2229 0.3871 0.2898 0.2998 0.2676 0.1431 0.25 0.13 0.31 0.21 0.37 rs2452600 COSM3760837 1(breast);1(large_intestine) . . . . . . . . . . . 0.024 0.477 D 0.93 0.498 P 0.38 0.421 B 0.014 0.287 N 0.090 0.810 P 1.7 0.440 L 0.58 0.542 T -1.73 0.410 N 0.198 0.379 -0.928 0.444 T 0.000 0.000 T . . . 2.502 0.362 19.48 0.998 0.906 0.885 0.481 D c 0.368 0.420 1.000 0.747 0.722 0.854 0 4.39 0.520 2.412 0.440 0.935 0.490 1.000 0.715 1.000 0.888 13.598 0.613 . ENSG00000163110.10|ENSG00000163110.10 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg 0.2659 0.1273 0.2462 0.2901 0.3750 0.2755 0.3039 0.2782 0.1405 0.2556 0.1325 0.2458 0.2947 0.3578 0.2864 0.3082 0.2628 het 2835.33 250 4 95496882 . C T 2835.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.979;DP=250;DS;Dels=0.00;FS=13.123;HRun=2;HaplotypeScore=5.0804;MQ=59.14;MQ0=0;MQRankSum=0.253;QD=11.34;ReadPosRankSum=0.647;VQSLOD=4.0542;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:141,109:250:99:2865,0,4101 4 95506842 95506842 G A exonic PDLIM5 synonymous SNV PDLIM5:NM_001256428:exon5:c.G471A:p.Q157Q,PDLIM5:NM_001011513:exon6:c.G510A:p.Q170Q,PDLIM5:NM_006457:exon6:c.G837A:p.Q279Q,PDLIM5:NM_001011515:exon7:c.G528A:p.Q176Q,PDLIM5:NM_001256426:exon7:c.G528A:p.Q176Q,PDLIM5:NM_001256427:exon7:c.G528A:p.Q176Q,PDLIM5:NM_001011516:exon8:c.G468A:p.Q156Q 0.17 0.25 0.16 0.11 0.2 0.1 0.1824 0.2638 0.1546 0.0914 0.1492 0.2116 0.1509 0.0948 0.23 0.26 0.21 0.2 0.19 rs11097431 COSM4418089;COSM1130986;COSM1130985;COSM4418090 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1764 0.2664 0.1558 0.1460 0.0909 0.1494 0.2143 0.1848 0.0927 0.2105 0.2637 0.1933 0.17 0.1036 0.1472 0.2093 0.1871 het 1791.43 118 4 95506842 . G A 1791.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.508;DP=118;Dels=0.00;FS=5.996;HRun=1;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;MQRankSum=1.440;QD=15.05;ReadPosRankSum=-1.050;VQSLOD=5.2489;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,71:118:99:1821,0,1319 4 95539267 95539267 G A exonic PDLIM5 nonsynonymous SNV PDLIM5:NM_001256425:exon7:c.G58A:p.A20T,PDLIM5:NM_001256428:exon7:c.G667A:p.A223T,PDLIM5:NM_001011513:exon8:c.G706A:p.A236T,PDLIM5:NM_006457:exon8:c.G1033A:p.A345T,PDLIM5:NM_001256427:exon9:c.G724A:p.A242T,PDLIM5:NM_001256426:exon12:c.G1120A:p.A374T 0.99 1. 0.99 1. 0.99 0.98 0.9935 0.9954 0.9973 1 0.9982 0.9946 0.9956 0.9795 0.99 1. 0.99 0.99 0.99 rs966845 . . . . . . . . . . . . . 1.0 0.041 T 0.0 0.154 B 0.001 0.080 B 0.065 0.219 N 1 0.090 P -0.57 0.023 N 0.68 0.563 T 0.5 0.036 N 0.029 0.258 -0.956 0.399 T 0.000 0.000 T . . . 0.086 0.102 3.456 0.070 0.000 0.003 0.017 N c -1.460 -1.373 1.000 0.402 0.706 0.609 0 1.63 0.228 0.074 0.144 -0.246 0.091 0.000 0.063 0.000 0.016 3.147 0.060 Domain of unknown function DUF4749 . . 0.9937 0.9953 0.9977 0.9895 1 0.9979 0.9947 0.9956 0.9794 0.9960 0.9962 0.9976 0.9934 1 0.9977 0.9951 0.9929 hom 2127.14 68 4 95539267 . G A 2127.14 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9958;MQ=59.39;MQ0=0;QD=31.28;VQSLOD=9.2886;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2160,178,0 4 95578588 95578588 G A exonic PDLIM5 nonsynonymous SNV PDLIM5:NM_001256425:exon10:c.G500A:p.S167N,PDLIM5:NM_001256428:exon10:c.G1109A:p.S370N,PDLIM5:NM_001011513:exon11:c.G1148A:p.S383N,PDLIM5:NM_006457:exon11:c.G1475A:p.S492N,PDLIM5:NM_001256427:exon12:c.G1166A:p.S389N,PDLIM5:NM_001256426:exon15:c.G1562A:p.S521N 0.98 0.96 0.99 1. 0.99 0.96 0.9886 0.9611 0.9959 1 0.9982 0.9947 0.9879 0.9661 0.98 0.96 0.99 0.96 0.99 rs13107595 . . . . . . . . . . . . . 0.74 0.062 T 0.0 0.067 B 0.001 0.093 B 0.000 0.843 N 1.000 0.194 P 0.36 0.120 N -2.28 0.875 D 2.48 0.002 N 0.013 0.003 -0.917 0.460 T 0.000 0.000 T . . . 1.771 0.274 14.82 0.559 0.053 0.273 0.230 N c -0.629 -0.356 1.000 0.747 0.706 0.609 0 4.68 0.582 6.255 0.722 0.202 0.252 1.000 0.715 0.994 0.587 10.606 0.444 Zinc finger\x2c LIM-type . . 0.9897 0.9611 0.9963 0.9895 1 0.9981 0.9948 0.9931 0.9657 0.9865 0.9636 0.9952 0.9934 1 0.9977 0.9949 0.9918 hom 5053.16 164 4 95578588 . G A 5053.16 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.2434;MQ=59.03;MQ0=0;QD=30.81;VQSLOD=9.3445;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:5053,385,0 4 96106322 96106322 A G exonic UNC5C nonsynonymous SNV UNC5C:NM_003728:exon13:c.T2162C:p.M721T 0.49 0.092 0.75 0.57 0.71 0.55 0.6409 0.1733 0.8312 0.5731 0.7249 0.6935 0.6854 0.5887 0.53 0.19 0.7 0.5 0.67 rs2289043 COSM5617819 1(breast) . . . . . . . . . . . 0.041 0.419 D 0.189 0.277 B 0.039 0.223 B 0.000 0.629 D 0.006 0.420 P 1.78 0.463 L 0.84 0.553 T -2.47 0.539 N 0.128 0.278 -0.952 0.407 T 0.000 0.000 T . . . 2.627 0.377 20.4 0.978 0.354 0.977 0.765 D c 0.155 0.313 1.000 0.747 0.516 0.203 0 4.71 0.589 6.149 0.714 1.199 0.960 1.000 0.715 1.000 0.888 11.416 0.490 . . . 0.6614 0.1685 0.8240 0.7606 0.5671 0.7293 0.6911 0.6946 0.5898 0.5487 0.1828 0.7728 0.7233 0.5596 0.7282 0.6947 0.6772 het 2040.93 160 4 96106322 . A G 2040.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.298;DP=160;Dels=0.00;FS=2.817;HRun=0;HaplotypeScore=6.5837;MQ=58.73;MQ0=0;MQRankSum=1.057;QD=12.76;ReadPosRankSum=-0.667;VQSLOD=4.9624;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,84:160:99:2071,0,1959 4 96123981 96123981 C T exonic UNC5C synonymous SNV UNC5C:NM_003728:exon12:c.G2037A:p.A679A 0.58 0.73 0.54 0.36 0.72 0.52 0.6213 0.7131 0.4402 0.3373 0.6207 0.6918 0.6181 0.5540 0.7 0.71 0.69 0.66 0.49 rs3733212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6163 0.7174 0.4689 0.7942 0.3301 0.6174 0.6897 0.6578 0.5559 0.6628 0.7169 0.5346 0.7733 0.3205 0.6134 0.6870 0.625 het 1975.53 137 4 96123981 . C T 1975.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.189;DP=137;Dels=0.00;FS=5.470;HRun=2;HaplotypeScore=1.8100;MQ=59.56;MQ0=0;MQRankSum=1.307;QD=14.42;ReadPosRankSum=1.033;VQSLOD=5.5592;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,71:137:99:2006,0,1649 4 96127869 96127869 T G exonic UNC5C synonymous SNV UNC5C:NM_003728:exon11:c.A1812C:p.P604P 0.53 0.55 0.51 0.36 0.71 0.5 0.5883 0.5435 0.4095 0.3360 0.595 0.6718 0.6090 0.5321 0.63 0.54 0.67 0.62 0.54 rs2276322 COSM4159313 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5860 0.5450 0.4387 0.7605 0.3297 0.5894 0.6712 0.6375 0.5354 0.5950 0.5381 0.5012 0.7219 0.3218 0.5765 0.6641 0.6020 het 910.17 103 4 96127869 . T G 910.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.227;DP=103;Dels=0.00;FS=12.343;HRun=3;HaplotypeScore=2.7565;MQ=59.37;MQ0=0;MQRankSum=-0.711;QD=8.84;ReadPosRankSum=-1.859;VQSLOD=3.2104;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,37:103:99:940,0,1808 4 96256673 96256673 G A exonic UNC5C synonymous SNV UNC5C:NM_003728:exon2:c.C234T:p.P78P 0.81 0.58 0.85 1. 0.81 0.89 0.8229 0.6475 0.8901 0.9987 0.7842 0.8068 0.8068 0.8767 0.76 0.65 0.82 0.8 0.7 rs1843018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8276 0.6454 0.8792 0.7433 0.9991 0.7853 0.8136 0.8115 0.8775 0.7754 0.6429 0.8561 0.7616 1 0.7842 0.8202 0.8056 hom 1401.18 45 4 96256673 . G A 1401.18 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=31.14;VQSLOD=9.6266;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1434,111,0 4 98893437 98893437 A G exonic STPG2 synonymous SNV STPG2:NM_174952:exon7:c.T927C:p.D309D 0.41 0.37 0.54 0.24 0.47 0.47 0.4589 0.3617 0.6120 0.2565 0.4784 0.4682 0.4678 0.4735 0.43 0.36 0.47 0.37 0.57 rs783960 COSM1130976 1(kidney);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4598 0.3527 0.5996 0.5181 0.2613 0.4783 0.4605 0.4789 0.4573 0.4275 0.3471 0.5622 0.4967 0.2823 0.4658 0.4684 0.4846 het 1341.59 107 4 98893437 . A G 1341.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.483;DP=107;Dels=0.00;FS=1.574;HRun=0;HaplotypeScore=0.8667;MQ=58.91;MQ0=0;MQRankSum=-0.321;QD=12.54;ReadPosRankSum=-0.608;VQSLOD=6.4993;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,53:107:99:1372,0,1339 4 98893476 98893476 C T exonic STPG2 synonymous SNV STPG2:NM_174952:exon7:c.G888A:p.S296S 0.41 0.37 0.54 0.24 0.48 0.47 0.4572 0.3608 0.6119 0.2565 0.4784 0.4675 0.4648 0.4647 0.43 0.36 0.47 0.34 0.57 rs783959 COSM149717 1(stomach);1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4630 0.3537 0.6031 0.5140 0.2629 0.4791 0.4613 0.4782 0.4565 0.4283 0.3478 0.5622 0.4967 0.2819 0.4664 0.4693 0.4857 het 1522.98 120 4 98893476 . C T 1522.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.062;DP=120;Dels=0.00;FS=1.469;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;MQRankSum=0.722;QD=12.69;ReadPosRankSum=0.594;VQSLOD=6.5742;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,64:120:99:1553,0,1394 4 99325652 99325652 G C exonic RAP1GDS1 nonsynonymous SNV RAP1GDS1:NM_001100430:exon5:c.G389C:p.S130T,RAP1GDS1:NM_001100428:exon6:c.G518C:p.S173T,RAP1GDS1:NM_001100429:exon6:c.G515C:p.S172T,RAP1GDS1:NM_001100426:exon7:c.G665C:p.S222T,RAP1GDS1:NM_001100427:exon7:c.G662C:p.S221T,RAP1GDS1:NM_021159:exon7:c.G665C:p.S222T . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.403 0.206 T 0.224 0.287 B 0.076 0.269 B 0.003 0.360 N 0.987 0.406 D 0.69 0.170 N 1.06 0.398 T -1.08 0.295 N 0.231 0.317 -1.067 0.100 T 0.059 0.248 T 0.006 0.170 T 1.713 0.267 14.48 0.930 0.220 0.897 0.501 D c -0.073 0.147 0.913 0.264 0.706 0.609 0 4.85 0.622 4.634 0.608 0.998 0.613 1.000 0.715 0.997 0.653 7.001 0.238 Armadillo-like helical|Armadillo-type fold;Armadillo-type fold . . . . . . . . . . . . . . . . . . . het 702.90 51 4 99325652 . G C 702.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.405;DP=51;Dels=0.00;FS=2.422;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;MQRankSum=0.122;QD=13.78;ReadPosRankSum=1.498;VQSLOD=4.6337;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,25:51:99:733,0,687 4 100045616 100045616 C T exonic ADH4 nonsynonymous SNV ADH4:NM_000670:exon9:c.G1120A:p.V374I,ADH4:NM_001306171:exon10:c.G1177A:p.V393I,ADH4:NM_001306172:exon10:c.G1177A:p.V393I 0.85 0.86 0.77 1. 0.7 0.88 0.7549 0.8239 0.8066 0.9987 0.6955 0.6837 0.72 0.8508 0.73 0.82 0.68 0.74 0.46 rs1126673 . . . . . . . . . . . . . 1.0 0.010 T 0.004 0.112 B 0.003 0.080 B 0.003 0.353 N 1.000 0.217 P -1.29 0.007 N 4.11 0.029 T 0.8 0.020 N 0.123 0.138 -0.997 0.309 T 0.000 0.000 T . . . 0.348 0.127 6.145 0.787 0.120 0.004 0.018 N c -1.103 -0.959 0.005 0.107 0.487 0.133 0 0.629 0.168 0.499 0.221 -0.369 0.067 0.998 0.411 0.590 0.287 3.592 0.075 GroES-like ENSG00000246090.2|ENSG00000172955.13|ENSG00000198099.4|ENSG00000198099.4|ENSG00000198099.4|ENSG00000246090.2|ENSG00000197894.6|ENSG00000197894.6 Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Whole_Blood 0.7446 0.8178 0.7850 0.6731 0.9985 0.7042 0.6781 0.7101 0.8414 0.7433 0.8256 0.7464 0.6854 0.9981 0.6933 0.6816 0.7260 het 356.70 41 4 100045616 . C T 356.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.247;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;MQRankSum=1.082;QD=8.70;ReadPosRankSum=0.708;VQSLOD=6.4257;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,16:41:99:387,0,589 4 100048414 100048414 T C exonic ADH4 nonsynonymous SNV ADH4:NM_000670:exon7:c.A925G:p.I309V,ADH4:NM_001306171:exon8:c.A982G:p.I328V,ADH4:NM_001306172:exon8:c.A982G:p.I328V 0.85 0.86 0.77 1. 0.7 0.88 0.7560 0.8264 0.8097 0.9987 0.6973 0.6865 0.7225 0.8525 0.73 0.82 0.68 0.74 0.73 rs1126671 COSM4158708 1(thyroid) . . . . . . . . . . . 0.891 0.025 T 0.0 0.026 B 0.0 0.013 B 0.276 0.150 N 1 0.090 P 0.305 0.102 N 3.34 0.061 T -0.01 0.080 N 0.014 0.002 -1.006 0.280 T 0.000 0.000 T . . . -2.182 0.006 0.001 0.280 0.014 0.015 0.050 N c -1.795 -1.923 0.182 0.179 0.487 0.133 0 -7.29 0.013 -1.880 0.017 -0.256 0.089 0.000 0.063 0.005 0.090 3.768 0.081 Alcohol dehydrogenase\x2c C-terminal|NAD(P)-binding domain;NAD(P)-binding domain ENSG00000246090.2|ENSG00000172955.13|ENSG00000198099.4|ENSG00000198099.4|ENSG00000198099.4|ENSG00000246090.2|ENSG00000197894.6|ENSG00000197894.6 Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Whole_Blood 0.7553 0.8266 0.7962 0.6770 0.9986 0.7064 0.6878 0.7168 0.8525 0.7445 0.8257 0.7464 0.6854 0.9981 0.6954 0.6829 0.7277 het 862.24 82 4 100048414 . T C 862.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.222;DP=82;Dels=0.00;FS=1.869;HRun=0;HaplotypeScore=4.8899;MQ=58.95;MQ0=0;MQRankSum=0.951;QD=10.52;ReadPosRankSum=-0.658;VQSLOD=5.5699;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,38:82:99:892,0,1040 4 100052733 100052733 C A exonic ADH4 synonymous SNV ADH4:NM_000670:exon6:c.G765T:p.P255P,ADH4:NM_001306171:exon7:c.G822T:p.P274P,ADH4:NM_001306172:exon7:c.G822T:p.P274P 0.85 0.86 0.77 1. 0.7 0.88 0.7565 0.8264 0.8101 0.9987 0.6970 0.6873 0.7225 0.8531 0.73 0.82 0.68 0.74 0.74 rs1126670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7561 0.8264 0.7974 0.6771 0.9986 0.7064 0.6888 0.7178 0.8527 0.7437 0.8254 0.7488 0.6854 0.9981 0.6931 0.6825 0.7261 het 966.69 81 4 100052733 . C A 966.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.655;DP=81;Dels=0.00;FS=0.869;HRun=0;HaplotypeScore=2.6939;MQ=58.14;MQ0=0;MQRankSum=0.173;QD=11.93;ReadPosRankSum=-0.558;VQSLOD=5.6996;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,39:81:99:997,0,1120 4 100062819 100062819 A G exonic ADH4 synonymous SNV ADH4:NM_000670:exon3:c.T135C:p.S45S,ADH4:NM_001306171:exon4:c.T192C:p.S64S,ADH4:NM_001306172:exon4:c.T192C:p.S64S 0.96 0.93 0.94 1. 0.97 0.98 0.9656 0.9314 0.9309 0.9997 0.9427 0.9708 0.9703 0.9818 0.96 0.93 0.97 0.96 0.96 rs2032349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9646 0.9312 0.9330 0.9794 0.9999 0.9419 0.9719 0.9619 0.9818 0.9581 0.9388 0.9403 0.9768 0.9994 0.9433 0.9694 0.9520 het 1334.02 118 4 100062819 . A G 1334.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.862;DP=118;Dels=0.00;FS=2.436;HRun=1;HaplotypeScore=1.7333;MQ=57.87;MQ0=0;MQRankSum=0.254;QD=11.31;ReadPosRankSum=-1.063;VQSLOD=5.1436;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,55:118:99:1364,0,1643 4 100140306 100140306 A T exonic ADH6 nonsynonymous SNV ADH6:NM_000672:exon1:c.T4A:p.C2S,ADH6:NM_001102470:exon1:c.T4A:p.C2S 1. 1. 1. 1. 1. 1. 0.9997 0.9999 1 1 1 0.9995 0.9989 1 1. 1. 1. 1. 1. rs4699735 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9999 1.0000 1 1 0.9999 0.9995 1 1.0000 0.9999 1 1 1 1 0.9994 0.9999 1 hom 1912 66 4 100140306 . A T 1912 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8237;MQ=59.27;MQ0=0;QD=28.97;VQSLOD=8.6334;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1945,150,0 4 100239319 100239319 T C exonic ADH1B nonsynonymous SNV ADH1B:NM_000668:exon3:c.A143G:p.H48R,ADH1B:NM_001286650:exon4:c.A23G:p.H8R 0.84 1. 0.94 0.3 0.97 0.98 0.9064 0.9865 0.9418 0.2667 0.9952 0.9502 0.8910 0.9543 0.96 0.98 0.95 0.85 0.95 rs1229984 COSM4415083 3(haematopoietic_and_lymphoid_tissue) other|other Alcohol_dependence|Aerodigestive_tract_cancer\x2c_squamous_cell\x2c_alcohol-related\x2c_protection_against RCV000019813.2|RCV000019814.3 MedGen:OMIM|MedGen C0001973:103780|CN071716 Esophageal cancer 1.79 . 19698717 rs1229984 8E-24 0.767 0.034 T 0.0 0.026 B 0.0 0.013 B 0.001 0.406 N 0.152 0.358 P . . . 3.8 0.049 T -0.25 0.110 N 0.022 0.005 -0.998 0.305 T 0.000 0.000 T . . . 0.723 0.163 8.977 0.569 0.055 0.089 0.146 N c -0.591 -0.526 0.304 0.192 0.487 0.133 0 3.57 0.399 1.178 0.314 0.016 0.142 0.474 0.265 0.247 0.227 10.534 0.440 Alcohol dehydrogenase\x2c N-terminal|GroES-like;GroES-like . . 0.9025 0.9891 0.9440 0.7301 0.2589 0.9951 0.9619 0.8905 0.9496 0.9377 0.9876 0.9403 0.7616 0.2791 0.9969 0.9682 0.9531 hom 5987.38 203 4 100239319 . T C 5987.38 Mask AC=2;AF=1.00;AN=2;DP=203;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5162;MQ=58.33;MQ0=0;QD=29.49;VQSLOD=7.2659;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:5986,511,0 4 100263965 100263965 C T exonic ADH1C unknown UNKNOWN 0.21 0.1 0.27 0.076 0.4 0.28 0.3425 0.1470 0.3317 0.0758 0.5144 0.3968 0.3800 0.3226 0.3 0.15 0.38 0.22 . rs1693482 COSN15303906;COSN19622552;COSN20281068 3(haematopoietic_and_lymphoid_tissue) other Alcohol_dependence RCV000019810.2 MedGen:OMIM C0001973:103780 . . . . . . . . . 0.002 0.090 B 0.008 0.127 B . . . . . . 1.365 0.343 L . . . . . . 0.126 0.320 . . . . . . . . . 4.526 0.606 24.3 0.995 0.669 0.024 0.067 N n 0.705 -0.044 0.000 0.012 0.061 0.009 0 1.77 0.237 0.447 0.213 -0.374 0.066 0.005 0.169 0.317 0.240 5.700 0.170 Alcohol dehydrogenase\x2c C-terminal|NAD(P)-binding domain ENSG00000248144.1|ENSG00000198099.4|ENSG00000248144.1|ENSG00000248144.1|ENSG00000248144.1|ENSG00000248144.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Putamen_basal_ganglia|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle 0.3462 0.1424 0.3276 0.2624 0.0778 0.5167 0.4019 0.3396 0.3219 0.3361 0.1456 0.3210 0.25 0.0863 0.5140 0.4296 0.4206 hom 7966.90 250 4 100263965 . C T 7966.90 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8061;MQ=49.76;MQ0=8;QD=31.87;VQSLOD=3.4070;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:4,246:250:99:7966,635,0 4 100266112 100266112 C T exonic ADH1C unknown UNKNOWN 0.21 0.1 0.27 0.076 0.4 0.28 0.3430 0.1470 0.3316 0.0762 0.5145 0.3970 0.3811 0.3255 0.31 0.15 0.39 0.22 . rs1693425 COSN19622553;COSN20279882;COSN15303422 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3470 0.1425 0.3275 0.2642 0.0782 0.5167 0.4021 0.3401 0.3254 0.3363 0.1452 0.3218 0.2483 0.0873 0.5138 0.4301 0.4224 hom 5356.27 169 4 100266112 . C T 5356.27 Mask AC=2;AF=1.00;AN=2;DP=169;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6497;MQ=58.46;MQ0=0;QD=31.69;VQSLOD=6.8656;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,168:169:99:5356,433,0 4 100266371 100266371 A G exonic ADH1C unknown UNKNOWN 0.15 0.093 0.17 0.025 0.32 0.17 0.2454 0.1217 0.1717 0.0196 0.3704 0.2993 0.2579 0.2229 0.23 0.12 0.29 0.15 . rs1789915 COSN9974375 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2442 0.1158 0.1749 0.2109 0.0198 0.3689 0.3025 0.2497 0.2189 0.2488 0.1177 0.2076 0.1987 0.0247 0.3721 0.3206 0.2994 het 460.02 43 4 100266371 . A G 460.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.922;DP=43;Dels=0.00;FS=2.692;HRun=0;HaplotypeScore=1.8633;MQ=59.13;MQ0=0;MQRankSum=-0.575;QD=10.70;ReadPosRankSum=-1.382;VQSLOD=5.3469;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,19:43:99:490,0,537 4 100268190 100268190 A C exonic ADH1C unknown UNKNOWN 0.99 1. 0.98 1. 0.99 0.98 0.9848 0.9969 0.9854 0.9995 0.9985 0.9851 0.9670 0.9637 0.99 1. 0.99 0.99 . rs283413 . . other\x2cBenign Parkinson_disease\x2c_mitochondrial\x2cnot_specified RCV000019812.3\x2cRCV000454760.1 MedGen:OMIM\x2cMedGen C1838867:556500\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9843 0.9980 0.9861 0.9367 0.9996 0.9988 0.9879 0.9733 0.9609 0.9936 0.9984 0.9809 0.9305 0.9988 0.9997 0.9910 0.9908 hom 8150.77 250 4 100268190 . A C 8150.77 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5406;MQ=43.50;MQ0=7;QD=32.60;VQSLOD=3.4332;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8150,662,0 4 100443720 100443720 G A exonic C4orf17 nonsynonymous SNV C4orf17:NM_032149:exon3:c.G191A:p.G64E 0.31 0.34 0.22 0.24 0.3 0.44 0.2975 0.3388 0.1868 0.1936 0.1951 0.3045 0.3117 0.4155 0.32 0.34 0.31 0.34 0.35 rs13143848 COSM1131318 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.376 0.113 T 0.225 0.287 B 0.079 0.272 B 0.571 0.055 N 1 0.090 P 2.08 0.576 M 2.33 0.166 T -1.41 0.348 N 0.104 0.123 -0.930 0.442 T 0.000 0.000 T . . . -1.327 0.021 0.004 0.477 0.039 0.016 0.051 N c -0.819 -0.889 0.000 0.029 0.487 0.133 0 1.2 0.201 0.112 0.152 0.045 0.158 0.000 0.063 0.000 0.016 3.282 0.065 . . . 0.2906 0.3354 0.1970 0.3462 0.1948 0.1995 0.3058 0.2873 0.4180 0.2802 0.3296 0.2237 0.3344 0.1803 0.1981 0.2846 0.2643 het 1435.47 143 4 100443720 . G A 1435.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.223;DP=143;Dels=0.00;FS=3.044;HRun=1;HaplotypeScore=3.7265;MQ=57.81;MQ0=0;MQRankSum=-0.139;QD=10.04;ReadPosRankSum=-0.770;VQSLOD=4.7813;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,58:143:99:1465,0,2159 4 100443782 100443782 T C exonic C4orf17 nonsynonymous SNV C4orf17:NM_032149:exon3:c.T253C:p.S85P 0.58 0.93 0.35 0.4 0.36 0.65 0.4333 0.8555 0.2905 0.3278 0.2622 0.3845 0.4570 0.5864 0.41 0.8 0.21 0.4 0.43 rs13119384 COSM4002868 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.854 0.027 T 0.0 0.026 B 0.0 0.013 B 0.402 0.131 N 1 0.090 P -2.35 0.001 N 2.36 0.161 T 1.85 0.005 N 0.041 0.041 -1.016 0.248 T 0.000 0.000 T . . . -1.131 0.027 0.009 0.065 0.000 0.001 0.007 N c -1.278 -1.155 0.000 0.041 0.487 0.133 0 3.34 0.372 0.176 0.165 0.069 0.176 0.001 0.137 0.001 0.043 3.269 0.064 . . . 0.4197 0.8604 0.3038 0.5667 0.3261 0.2678 0.3789 0.4165 0.5909 0.4802 0.8405 0.3438 0.5201 0.3075 0.2572 0.3549 0.3701 het 1247.02 110 4 100443782 . T C 1247.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.084;DP=110;Dels=0.00;FS=0.711;HRun=4;HaplotypeScore=1.6281;MQ=57.87;MQ0=0;MQRankSum=-1.407;QD=11.34;ReadPosRankSum=-0.272;VQSLOD=4.5847;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,48:110:99:1277,0,1725 4 100443784 100443784 C G exonic C4orf17 synonymous SNV C4orf17:NM_032149:exon3:c.C255G:p.S85S 0.21 0.2 0.19 0.12 0.27 0.27 0.2375 0.2189 0.1418 0.1214 0.1877 0.2724 0.2461 0.2551 0.021 0.02 0.022 . 0.27 rs61732380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2339 0.2140 0.1546 0.3052 0.1206 0.1901 0.2746 0.2371 0.2549 0.2265 0.2098 0.1770 0.2953 0.1170 0.1916 0.2575 0.2285 het 1159.26 113 4 100443784 . C G 1159.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.106;DP=113;Dels=0.00;FS=1.535;HRun=0;HaplotypeScore=1.6281;MQ=57.93;MQ0=0;MQRankSum=-1.396;QD=10.26;ReadPosRankSum=0.250;VQSLOD=3.7952;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,49:113:99:1189,0,1868 4 100443800 100443800 G A exonic C4orf17 nonsynonymous SNV C4orf17:NM_032149:exon3:c.G271A:p.E91K 0.21 0.18 0.19 0.12 0.27 0.27 0.2367 0.2034 0.1419 0.1215 0.1874 0.2735 0.2467 0.2552 0.25 0.2 0.27 0.25 0.28 rs17029087 COSM5425626 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.417 0.173 T 0.042 0.201 B 0.068 0.262 B 0.013 0.014 N 1 0.090 P 2.14 0.601 M 2.25 0.178 T -0.98 0.260 N 0.04 0.029 -0.969 0.375 T 0.000 0.000 T . . . 0.091 0.102 3.517 0.935 0.227 0.030 0.077 N c -1.151 -1.219 0.000 0.029 0.487 0.133 0 0.478 0.159 0.380 0.202 -0.267 0.087 0.001 0.137 0.000 0.016 7.652 0.274 . . . 0.2327 0.1968 0.1547 0.3024 0.1206 0.1898 0.2745 0.2387 0.2545 0.2226 0.1958 0.1739 0.2953 0.1174 0.1915 0.2577 0.2300 het 1122.59 114 4 100443800 . G A 1122.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.458;DP=114;Dels=0.00;FS=1.545;HRun=1;HaplotypeScore=2.6794;MQ=57.74;MQ0=0;MQRankSum=0.052;QD=9.85;ReadPosRankSum=0.533;VQSLOD=5.0511;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,45:114:99:1153,0,1849 4 100510859 100510859 T C exonic MTTP synonymous SNV MTTP:NM_001300785:exon4:c.T534C:p.G178G,MTTP:NM_000253:exon5:c.T453C:p.G151G 0.54 0.82 0.31 0.67 0.31 0.44 0.4036 0.7614 0.2506 0.6497 0.2017 0.3594 0.3918 0.4165 0.49 0.74 0.36 0.56 0.45 rs991811 COSM4002871 2(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Abetalipoproteinemia RCV000117637.3|RCV000271514.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0008181:C1963709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3917 0.7708 0.2626 0.5817 0.6489 0.2077 0.3523 0.3766 0.4177 0.4579 0.7588 0.3278 0.5728 0.6128 0.2056 0.3378 0.3333 het 609.98 67 4 100510859 . T C 609.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.662;DP=67;Dels=0.00;FS=2.321;HRun=1;HaplotypeScore=3.6497;MQ=59.07;MQ0=0;MQRankSum=1.095;QD=9.10;ReadPosRankSum=-0.499;VQSLOD=5.9411;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,25:67:99:640,0,998 4 100516022 100516022 C G exonic MTTP nonsynonymous SNV MTTP:NM_001300785:exon7:c.C972G:p.H324Q,MTTP:NM_000253:exon8:c.C891G:p.H297Q 0.54 0.82 0.31 0.67 0.32 0.44 0.4028 0.7523 0.2512 0.6500 0.2019 0.3591 0.3899 0.4167 0.49 0.73 0.36 0.56 0.46 rs2306985 COSM4002874 2(haematopoietic_and_lymphoid_tissue);1(pancreas) Likely benign|Benign not_specified|Abetalipoproteinemia RCV000117640.2|RCV000348296.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0008181:C1963709 . . . . . . 0.579 0.063 T 0.0 0.026 B 0.0 0.013 B 0.958 0.082 N 1 0.090 P -0.695 0.019 N 1.16 0.381 T 1.01 0.014 N 0.008 0.003 -0.997 0.308 T 0.000 0.000 T . . . -0.615 0.049 0.115 0.441 0.033 0.010 0.037 N c -2.354 -2.299 0.000 0.070 0.554 0.246 0 -2.65 0.057 -0.413 0.071 -1.668 0.008 0.022 0.197 0.061 0.171 4.890 0.130 Lipid transport protein\x2c N-terminal|Vitellinogen\x2c superhelical . . 0.3911 0.7607 0.2628 0.5819 0.6489 0.2080 0.3522 0.3770 0.4178 0.4553 0.7495 0.3261 0.5767 0.6167 0.2050 0.3380 0.3296 het 1235.59 85 4 100516022 . C G 1235.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.290;DP=85;Dels=0.00;FS=3.390;HRun=0;HaplotypeScore=3.4791;MQ=58.94;MQ0=0;MQRankSum=-1.440;QD=14.54;ReadPosRankSum=0.541;VQSLOD=4.8351;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,45:85:99:1266,0,1102 4 102751276 102751276 C T exonic BANK1 synonymous SNV BANK1:NM_001083907:exon2:c.C292T:p.L98L,BANK1:NM_017935:exon2:c.C382T:p.L128L 0.54 0.76 0.48 0.5 0.39 0.48 0.4285 0.7173 0.4433 0.4642 0.3754 0.3773 0.3869 0.4524 0.49 0.69 0.38 0.55 0.41 rs10516486 COSM3760314 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4274 0.7173 0.4494 0.4760 0.4721 0.3843 0.3753 0.3982 0.4433 0.4758 0.7052 0.4833 0.4567 0.4759 0.3886 0.3684 0.3814 het 982.92 106 4 102751276 . C T 982.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.015;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;MQRankSum=-1.109;QD=9.27;ReadPosRankSum=-0.234;VQSLOD=6.3172;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,41:106:99:1013,0,1801 4 102816467 102816467 C G exonic BANK1 nonsynonymous SNV BANK1:NM_001127507:exon5:c.C510G:p.S170R,BANK1:NM_001083907:exon6:c.C819G:p.S273R,BANK1:NM_017935:exon6:c.C909G:p.S303R 0.11 0.02 0.23 0.17 0.081 0.096 0.0893 0.0374 0.2126 0.1788 0.0573 0.0672 0.0852 0.0909 0.053 0.035 0.063 0.087 0.0082 rs62321738 COSM329170 2(haematopoietic_and_lymphoid_tissue);2(prostate) . . . . . . . . . . . 0.043 0.437 D 0.018 0.324 B 0.044 0.385 B 0.132 0.028 N 1 0.090 P 0.975 0.246 L 2.81 0.197 T -2.22 0.498 N 0.034 0.107 -1.003 0.290 T 0.000 0.001 T . . . 1.307 0.221 12.31 0.977 0.349 0.042 0.096 N c -0.584 -0.640 0.000 0.012 0.554 0.246 0 1.82 0.241 -0.184 0.096 0.887 0.390 0.000 0.063 0.276 0.233 10.262 0.424 DBB domain . . 0.0910 0.0356 0.2102 0.0932 0.1758 0.0549 0.0630 0.0858 0.0885 0.0642 0.0351 0.2120 0.1167 0.1939 0.0549 0.0604 0.0586 het 318.22 35 4 102816467 . C G 318.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DP=35;Dels=0.00;FS=4.202;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;MQRankSum=0.052;QD=9.09;ReadPosRankSum=2.068;VQSLOD=4.6745;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,12:35:99:348,0,582 4 102965043 102965043 T C exonic BANK1 nonsynonymous SNV BANK1:NM_001127507:exon10:c.T1549C:p.C517R,BANK1:NM_001083907:exon11:c.T1858C:p.C620R,BANK1:NM_017935:exon11:c.T1948C:p.C650R 1. 1. 1. 1. 0.99 1. 0.9915 0.9971 0.9977 1 0.9841 0.9876 0.9945 0.9973 0.99 1. 0.99 1. 1. rs3113676 . . . . . . . . . . . . . 0.779 0.049 T 0.0 0.026 B 0.0 0.013 B 0.307 0.145 N 1 0.090 P -0.345 0.033 N 0.57 0.544 T 1.93 0.004 N 0.01 0.054 -1.001 0.296 T 0.000 0.000 T . . . -0.250 0.072 0.857 0.215 0.008 0.011 0.039 N c -1.042 -0.971 0.000 0.070 0.554 0.246 0 3.64 0.407 0.633 0.241 -0.351 0.070 0.009 0.180 0.375 0.250 6.424 0.208 . . . 0.9908 0.9977 0.9968 0.9900 1 0.9818 0.9869 0.9916 0.9970 0.9910 0.9982 0.9964 0.9967 1 0.9837 0.9872 0.9919 hom 3188.49 117 4 102965043 . T C 3188.49 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7308;MQ=57.69;MQ0=0;QD=27.25;VQSLOD=6.0632;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3221,250,0 4 103188709 103188709 C T exonic SLC39A8 nonsynonymous SNV SLC39A8:NM_001135148:exon7:c.G970A:p.A324T,SLC39A8:NM_022154:exon7:c.G1171A:p.A391T,SLC39A8:NM_001135146:exon8:c.G1171A:p.A391T,SLC39A8:NM_001135147:exon8:c.G1171A:p.A391T 0.024 0.0023 0.05 . 0.08 . 0.0424 0.0134 0.0348 0.0017 0.0080 0.0670 0.0269 0.0030 0.055 0.015 0.076 0.022 0.13 rs13107325 COSM4988923;COSM4988924 3(soft_tissue) . . . . . . . . . . . 0.166 0.231 T 0.888 0.468 P 0.679 0.516 P 0.000 0.629 D 1.000 0.537 D 1.945 0.524 M 0.92 0.445 T -1.12 0.289 N 0.112 0.150 -1.190 0.002 T 0.011 0.040 T . . . 7.149 0.943 34 0.998 0.876 0.902 0.509 D c 0.283 0.348 0.898 0.260 0.707 0.730 0 4.43 0.528 1.821 0.384 0.852 0.362 1.000 0.715 0.999 0.750 12.395 0.545 . . . 0.0450 0.0125 0.0372 0.1319 0.0006 0.0101 0.0691 0.0554 0.0031 0.0418 0.0166 0.0549 0.1325 0 0.0117 0.0649 0.0510 het 1540.01 121 4 103188709 . C T 1540.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.390;DP=121;Dels=0.00;FS=4.960;HRun=0;HaplotypeScore=0.6651;MQ=59.03;MQ0=0;MQRankSum=1.207;QD=12.73;ReadPosRankSum=-1.660;VQSLOD=5.1455;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,64:121:99:1570,0,1556 4 103225513 103225513 T C exonic SLC39A8 synonymous SNV SLC39A8:NM_001135148:exon5:c.A600G:p.G200G,SLC39A8:NM_022154:exon5:c.A801G:p.G267G,SLC39A8:NM_001135146:exon6:c.A801G:p.G267G,SLC39A8:NM_001135147:exon6:c.A801G:p.G267G 0.14 0.091 0.18 0.12 0.15 0.21 0.1754 0.0951 0.2264 0.1240 0.1660 0.1736 0.2002 0.2272 0.15 0.094 0.18 0.087 0.17 rs11097773 COSM5765808;COSM5765809 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1751 0.0960 0.2101 0.1578 0.1212 0.1579 0.1739 0.1782 0.2284 0.1465 0.0877 0.2007 0.1788 0.1268 0.1591 0.1745 0.1732 het 847.84 78 4 103225513 . T C 847.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.736;DP=78;Dels=0.00;FS=3.031;HRun=2;HaplotypeScore=1.8606;MQ=58.98;MQ0=0;MQRankSum=0.005;QD=10.87;ReadPosRankSum=0.155;VQSLOD=6.2083;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,36:78:99:878,0,1031 4 103228734 103228734 C T exonic SLC39A8 synonymous SNV SLC39A8:NM_001135148:exon3:c.G210A:p.T70T,SLC39A8:NM_022154:exon3:c.G411A:p.T137T,SLC39A8:NM_001135146:exon4:c.G411A:p.T137T,SLC39A8:NM_001135147:exon4:c.G411A:p.T137T 0.16 0.16 0.18 0.12 0.16 0.21 0.1813 0.1633 0.2298 0.1229 0.1650 0.1735 0.1998 0.2261 0.17 0.16 0.18 0.13 0.16 rs35411892 COSM4002880 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1798 0.1654 0.2130 0.1580 0.1200 0.1582 0.1741 0.1801 0.2275 0.1665 0.1574 0.2029 0.1788 0.1258 0.1592 0.1749 0.1772 het 1822.35 147 4 103228734 . C T 1822.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.241;DP=147;Dels=0.00;FS=3.917;HRun=1;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;MQRankSum=-0.595;QD=12.40;ReadPosRankSum=1.660;VQSLOD=4.9698;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,72:147:99:1852,0,1721 4 103514658 103514658 T C exonic NFKB1 synonymous SNV NFKB1:NM_001165412:exon12:c.T1140C:p.A380A,NFKB1:NM_001319226:exon12:c.T1140C:p.A380A,NFKB1:NM_003998:exon12:c.T1143C:p.A381A 0.97 1. 0.93 1. 0.92 0.99 0.9401 0.9869 0.9558 0.9990 0.9303 0.9126 0.9339 0.9839 0.94 0.99 0.92 0.98 0.77 rs1609993 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9398 0.9877 0.9565 0.8861 0.9994 0.9310 0.9138 0.9249 0.9846 0.9425 0.9856 0.9402 0.9040 1 0.9250 0.9179 0.9173 het 1994.19 200 4 103514658 . T C 1994.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.399;DP=200;Dels=0.00;FS=2.584;HRun=1;HaplotypeScore=3.4853;MQ=58.54;MQ0=1;MQRankSum=2.293;QD=9.97;ReadPosRankSum=0.584;VQSLOD=4.4644;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,87:200:99:2024,0,2869 4 103611845 103611845 C T exonic MANBA nonsynonymous SNV MANBA:NM_005908:exon6:c.G757A:p.V253I 0.38 0.12 0.35 0.47 0.5 0.52 0.4427 0.1860 0.2962 0.4462 0.5598 0.4836 0.4681 0.4912 0.39 0.21 0.47 0.24 0.44 rs227368 COSM4155100 1(haematopoietic_and_lymphoid_tissue);1(kidney) Benign|Benign Beta-D-mannosidosis|not_specified RCV000354084.1|RCV000454742.1 MedGen:OMIM:SNOMED_CT|MedGen C0342849:248510:238047006|CN169374 . . . . . . 0.449 0.114 T 0.037 0.195 B 0.003 0.080 B 0.012 0.292 N 1.000 0.206 P 1.21 0.306 L 0.5 0.556 T -0.22 0.105 N 0.028 0.010 -0.903 0.477 T 0.000 0.000 T . . . 0.426 0.135 6.838 0.789 0.121 0.056 0.114 N c -0.962 -0.941 0.987 0.312 0.707 0.730 0 1.29 0.206 -0.114 0.106 0.059 0.165 0.001 0.137 0.294 0.236 8.922 0.346 Glycoside hydrolase\x2c family 2\x2c immunoglobulin-like beta-sandwich|Glycoside hydrolase\x2c family 2/20\x2c immunoglobulin-like beta-sandwich domain ENSG00000230069.3|ENSG00000145354.5|ENSG00000164039.10|ENSG00000145354.5|ENSG00000145354.5|ENSG00000109323.4|ENSG00000145354.5|ENSG00000248971.2|ENSG00000145354.5|ENSG00000248971.2|ENSG00000230069.3|ENSG00000109332.15|ENSG00000145354.5|ENSG00000248971.2|ENSG00000230069.3|ENSG00000145354.5|ENSG00000109332.15|ENSG00000248971.2|ENSG00000145354.5|ENSG00000248971.2|ENSG00000230069.3|ENSG00000164039.10|ENSG00000145354.5|ENSG00000248971.2|ENSG00000230069.3|ENSG00000145354.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.4436 0.1835 0.2997 0.4723 0.4408 0.5547 0.4850 0.4355 0.4932 0.4081 0.1896 0.3487 0.4404 0.4356 0.5625 0.4938 0.4938 het 2453.25 222 4 103611845 . C T 2453.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.562;DP=222;DS;Dels=0.00;FS=6.288;HRun=0;HaplotypeScore=2.7541;MQ=58.66;MQ0=2;MQRankSum=1.664;QD=11.05;ReadPosRankSum=-0.518;VQSLOD=4.9087;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,97:222:99:2483,0,3184 4 103911069 103911069 C A exonic SLC9B1 nonsynonymous SNV SLC9B1:NM_001100874:exon3:c.G99T:p.Q33H,SLC9B1:NM_139173:exon3:c.G99T:p.Q33H 1. 1. 1. 1. 0.99 1. 0.9968 0.9991 0.9987 0.9999 0.9986 0.9951 0.9989 0.9983 1. 1. 0.99 0.98 0.71 rs2715591 . . . . . . . . . . . . . 0.697 0.050 T 0.0 0.026 B 0.0 0.013 B 0.040 0.019 N 1 0.090 P -0.55 0.024 N 2.28 0.468 T 0.09 0.059 N 0.142 0.386 -0.991 0.324 T 0.000 0.000 T . . . -1.710 0.012 0.002 0.077 0.000 0.001 0.008 N c -1.606 -1.595 0.000 0.012 0.554 0.246 0 0.020 0.134 -0.715 0.051 -0.838 0.030 0.000 0.063 0.001 0.043 6.538 0.214 . . . 0.9966 0.9992 0.9984 0.9834 0.9999 0.9986 0.9955 0.9971 0.9981 0.9956 0.9981 0.9976 0.9570 1 0.9980 0.9937 0.9969 hom 1359.16 48 4 103911069 . C A 1359.16 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;QD=28.32;VQSLOD=7.8628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1392,108,0 4 103964529 103964529 A C exonic SLC9B2 nonsynonymous SNV SLC9B2:NM_001300754:exon8:c.T899G:p.F300C,SLC9B2:NM_001300756:exon8:c.T899G:p.F300C,SLC9B2:NM_178833:exon9:c.T1070G:p.F357C 0.14 0.062 0.16 0.18 0.11 0.24 0.1313 0.0585 0.1699 0.1570 0.0964 0.1165 0.1366 0.2104 0.097 0.06 0.12 0.12 0.09 rs2276976 COSM4002884;COSM4002883;COSM4002882 1(breast);2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.055 0.469 T 0.995 0.657 D 0.911 0.630 D 0.066 0.218 N 0.004 0.428 P 1.78 0.463 L 2.33 0.165 T -1.84 0.444 N 0.297 0.503 -1.187 0.003 T 0.001 0.002 T . . . 4.404 0.590 24.1 0.974 0.334 0.965 0.692 D c 0.534 0.492 1.000 0.448 0.707 0.730 0 5.93 0.959 6.455 0.732 1.140 0.893 1.000 0.715 0.995 0.604 16.387 0.833 Cation/H+ exchanger ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000109323.4|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.1337 0.0559 0.1706 0.1214 0.1587 0.0926 0.1181 0.1339 0.2089 0.1008 0.0562 0.1555 0.1556 0.1562 0.0971 0.1163 0.1207 het 1023.01 78 4 103964529 . A C 1023.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.078;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5657;MQ=59.06;MQ0=0;MQRankSum=0.929;QD=13.12;ReadPosRankSum=-0.360;VQSLOD=6.3616;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,39:78:99:1053,0,980 4 104013796 104013796 T C exonic BDH2 nonsynonymous SNV BDH2:NM_020139:exon4:c.A209G:p.N70S 0.16 0.049 0.18 0.15 0.15 0.3 0.1623 0.0641 0.1757 0.1276 0.1116 0.1594 0.1655 0.2643 0.13 0.066 0.16 0.12 0.074 rs1054707 COSM3760315 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.461 0.094 T 0.0 0.026 B 0.0 0.013 B 0.103 0.198 N 0.999 0.219 P -0.355 0.031 N 2.0 0.871 T 0.82 0.025 N 0.008 0.123 -1.062 0.113 T 0.001 0.003 T . . . -0.987 0.032 0.017 0.589 0.060 0.447 0.271 N c -1.112 -1.028 1.000 0.747 0.757 0.989 0 -2.62 0.058 0.121 0.154 -0.296 0.082 0.987 0.361 0.219 0.221 6.051 0.189 NAD(P)-binding domain ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.1627 0.0590 0.1770 0.1908 0.1270 0.1092 0.1586 0.1728 0.2612 0.1221 0.0610 0.1706 0.1867 0.1287 0.1025 0.1548 0.1629 het 315.43 31 4 104013796 . T C 315.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.142;DP=31;Dels=0.00;FS=3.151;HRun=0;HaplotypeScore=0.9967;MQ=58.79;MQ0=0;MQRankSum=1.075;QD=10.18;ReadPosRankSum=-0.061;VQSLOD=5.5141;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,12:31:99:345,0,489 4 104061993 104061993 C G exonic CENPE nonsynonymous SNV CENPE:NM_001286734:exon35:c.G5657C:p.S1886T,CENPE:NM_001813:exon36:c.G5732C:p.S1911T 0.21 0.18 0.22 0.15 0.18 0.33 0.1932 0.1748 0.1929 0.1283 0.1250 0.1817 0.1970 0.3239 0.18 0.18 0.18 0.15 0.11 rs1381657 COSM3760317;COSM3760316 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.501 0.077 T 0.247 0.294 B 0.092 0.285 B . . . 1 0.090 P 0.11 0.085 N -0.65 0.722 T -0.11 0.129 N 0.021 0.005 -1.099 0.042 T 0.000 0.000 T . . . -1.564 0.015 0.002 0.171 0.005 0.026 0.071 N c -1.237 -1.264 0.165 0.176 0.706 0.609 0 -1.34 0.086 -0.637 0.055 -0.267 0.087 0.000 0.063 0.001 0.043 9.766 0.395 . ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Vagina|Whole_Blood 0.1903 0.1747 0.1985 0.2369 0.1283 0.1263 0.1810 0.2 0.2979 0.1679 0.1713 0.1874 0.2185 0.1307 0.1195 0.1774 0.1933 het 750.34 73 4 104061993 . C G 750.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.906;DP=73;Dels=0.00;FS=3.562;HRun=2;HaplotypeScore=2.8926;MQ=59.68;MQ0=0;MQRankSum=0.274;QD=10.28;ReadPosRankSum=1.210;VQSLOD=5.6025;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,31:73:99:780,0,1078 4 104062223 104062223 C T exonic CENPE synonymous SNV CENPE:NM_001286734:exon35:c.G5427A:p.T1809T,CENPE:NM_001813:exon36:c.G5502A:p.T1834T 0.17 0.043 0.19 0.15 0.18 0.33 0.1909 0.0613 0.1998 0.1377 0.1302 0.1942 0.1908 0.3044 0.14 0.063 0.18 0.12 0.066 rs1381658 COSM4158729;COSM4158728 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1773 0.0564 0.1863 0.2244 0.1256 0.1261 0.1763 0.1866 0.2891 0.1342 0.0570 0.1766 0.2185 0.1311 0.1205 0.1757 0.1820 het 567.96 44 4 104062223 . C T 567.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.866;DP=44;Dels=0.00;FS=1.126;HRun=0;HaplotypeScore=1.7882;MQ=59.15;MQ0=0;MQRankSum=-1.162;QD=12.91;ReadPosRankSum=1.467;VQSLOD=5.6940;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,22:44:99:598,0,528 4 104082349 104082349 C T exonic CENPE synonymous SNV CENPE:NM_001286734:exon19:c.G1950A:p.Q650Q,CENPE:NM_001813:exon20:c.G2025A:p.Q675Q 0.45 0.67 0.35 0.3 0.41 0.41 0.4063 0.6013 0.3632 0.2856 0.4259 0.3976 0.4185 0.4017 0.46 0.59 0.39 0.45 0.23 rs2251634 COSM4416649;COSM4416648 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4016 0.6012 0.3742 0.4540 0.2805 0.4225 0.3912 0.4179 0.4018 0.4486 0.5911 0.3807 0.4305 0.2931 0.4200 0.3953 0.4175 het 386.40 51 4 104082349 . C T 386.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.050;DP=51;Dels=0.00;FS=1.191;HRun=1;HaplotypeScore=1.7853;MQ=60.00;MQ0=0;MQRankSum=0.010;QD=7.58;ReadPosRankSum=0.801;VQSLOD=5.4338;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,16:51:99:416,0,970 4 106317429 106317429 C G exonic PPA2 nonsynonymous SNV PPA2:NM_176867:exon3:c.G348C:p.K116N,PPA2:NM_176866:exon5:c.G540C:p.K180N,PPA2:NM_006903:exon8:c.G759C:p.K253N,PPA2:NM_176869:exon9:c.G846C:p.K282N 0.43 0.092 0.51 0.68 0.46 0.56 0.4544 0.1247 0.5434 0.6777 0.4196 0.4514 0.4240 0.5090 0.35 0.13 0.46 0.38 0.42 rs13787 COSM5480709;COSM5480708 1(large_intestine) . . . . . . . . . . . 0.069 0.355 T 0.57 0.367 P 0.198 0.351 B 0.000 0.460 D 0.955 0.263 P 2.275 0.649 M 0.81 0.485 T -2.62 0.671 D 0.011 0.152 -0.964 0.385 T 0.000 0.000 T . . . 2.568 0.370 19.90 0.988 0.456 0.104 0.157 N c -0.628 -0.622 0.002 0.088 0.732 0.924 0 0.105 0.138 -0.173 0.098 -0.959 0.024 0.000 0.063 0.080 0.181 6.729 0.224 . ENSG00000138777.15|ENSG00000138777.15|ENSG00000138777.15|ENSG00000138777.15|ENSG00000138777.15|ENSG00000138777.15|ENSG00000138777.15 Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Muscle_Skeletal|Nerve_Tibial|Testis|Thyroid 0.4487 0.1126 0.5161 0.4298 0.6530 0.4192 0.4457 0.4270 0.4894 0.3671 0.1262 0.4892 0.4404 0.6748 0.4126 0.4505 0.4429 hom 2788.46 97 4 106317429 . C G 2788.46 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6634;MQ=53.63;MQ0=0;QD=28.75;VQSLOD=4.0131;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2821,220,0 4 106474096 106474096 T C exonic ARHGEF38 synonymous SNV ARHGEF38:NM_001242729:exon1:c.T174C:p.T58T,ARHGEF38:NM_017700:exon1:c.T174C:p.T58T 1. 1. 1. 1. 1. 1. 0.9999 1 0.9999 1 1 0.9999 0.9989 1 . . . 1. 0.97 rs6533206 COSM4595198;COSM4595197 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 0.9999 1 1 1 0.9999 0.9996 1 1.0000 1 0.9988 1 1 1 1 1 hom 1857.66 65 4 106474096 . T C 1857.66 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;QD=28.58;VQSLOD=7.2907;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1891,153,0 4 106604164 106604164 C A exonic INTS12 nonsynonymous SNV INTS12:NM_001142471:exon7:c.G1115T:p.G372V,INTS12:NM_020395:exon8:c.G1115T:p.G372V 0.0012 . 0.0029 . 0.004 . 0.0033 0.0013 0.0010 0 0.0006 0.0054 0.0022 0.0008 0.0038 0.0016 0.005 . . rs115302648 . . . . . . . . . . . . . 0.243 0.175 T 0.003 0.102 B 0.004 0.093 B 0.051 0.230 N 1.000 0.480 D 0.895 0.225 L 0.9 0.453 T -0.67 0.193 N 0.133 0.153 -1.096 0.047 T 0.047 0.201 T 0.006 0.144 T 2.969 0.417 22.1 0.929 0.218 0.897 0.500 D c -0.234 -0.049 0.376 0.199 0.707 0.730 0 4.31 0.505 3.670 0.541 0.935 0.490 0.852 0.302 0.996 0.625 14.212 0.652 . . . 0.0032 0.0008 0.0013 0.0018 5.798e-05 0.0013 0.0058 0.0029 0.0009 0.0026 0.0011 0 0 0 0.0020 0.0041 0.0041 het 2433.78 218 4 106604164 . C A 2433.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.653;DP=218;Dels=0.00;FS=1.061;HRun=0;HaplotypeScore=3.5356;MQ=58.02;MQ0=0;MQRankSum=0.973;QD=11.16;ReadPosRankSum=-0.478;VQSLOD=4.7051;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:122,95:218:99:2464,0,3258 4 106859549 106859549 G C exonic NPNT nonsynonymous SNV NPNT:NM_001033047:exon5:c.G477C:p.Q159H,NPNT:NM_001184692:exon5:c.G477C:p.Q159H,NPNT:NM_001184690:exon6:c.G528C:p.Q176H,NPNT:NM_001184691:exon6:c.G567C:p.Q189H,NPNT:NM_001184693:exon6:c.G567C:p.Q189H 0.32 0.46 0.33 0.18 0.33 0.27 0.3141 0.4139 0.3574 0.1832 0.2239 0.3212 0.3128 0.2975 0.35 0.41 0.33 0.4 0.33 rs35132891 COSM4002890;COSM4002891 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.104 0.367 T 0.997 0.689 D 0.931 0.667 D 0.000 0.843 D 0.032 0.386 P 1.985 0.540 M 1.3 0.874 T -3.7 0.705 D 0.111 0.278 -1.148 0.011 T 0.000 0.000 T . . . 2.050 0.307 16.53 0.995 0.690 0.954 0.642 D c 0.135 0.151 0.999 0.377 0.693 0.558 0 3.49 0.389 3.878 0.556 0.136 0.221 1.000 0.715 0.997 0.653 8.696 0.333 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain;EGF-like domain|Growth factor receptor cysteine-rich domain . . 0.3130 0.4092 0.3538 0.4023 0.1802 0.2252 0.3202 0.3386 0.3000 0.3145 0.4106 0.3675 0.4106 0.1533 0.2247 0.2938 0.2878 het 1162.54 107 4 106859549 . G C 1162.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.477;DP=107;Dels=0.00;FS=2.634;HRun=1;HaplotypeScore=2.8211;MQ=58.34;MQ0=0;MQRankSum=0.700;QD=10.86;ReadPosRankSum=0.229;VQSLOD=5.5436;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,47:107:99:1193,0,1652 4 106861730 106861730 A G exonic NPNT nonsynonymous SNV NPNT:NM_001033047:exon7:c.A700G:p.I234V,NPNT:NM_001184692:exon7:c.A700G:p.I234V,NPNT:NM_001184690:exon8:c.A751G:p.I251V,NPNT:NM_001184691:exon8:c.A790G:p.I264V,NPNT:NM_001184693:exon8:c.A790G:p.I264V 0.89 0.72 0.92 1. 0.92 0.96 0.9159 0.7210 0.9576 0.9994 0.9366 0.9182 0.9427 0.9474 0.85 0.73 0.91 0.87 0.9 rs4340795 . . . . . . . . . . . . . 0.23 0.218 T 0.0 0.026 B 0.002 0.063 B 0.079 0.210 N 1.000 0.090 P 0.045 0.081 N -2.95 0.919 D 0.68 0.022 N 0.029 0.225 -0.956 0.399 T 0.000 0.000 T . . . -1.443 0.018 0.003 0.376 0.025 0.374 0.255 N c -1.424 -1.503 1.000 0.747 0.693 0.558 0 -9.72 0.004 0.603 0.237 -0.347 0.071 0.935 0.322 0.943 0.417 10.104 0.415 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like\x2c conserved site|Growth factor receptor cysteine-rich domain . . 0.9198 0.7110 0.9501 0.9310 0.9998 0.9372 0.9145 0.9297 0.9473 0.8700 0.7269 0.9462 0.9305 1 0.9396 0.9145 0.9133 hom 7086.94 237 4 106861730 . A G 7086.94 Mask AC=2;AF=1.00;AN=2;DP=237;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6093;MQ=59.24;MQ0=0;QD=29.90;VQSLOD=7.3587;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,237:237:99:7085,593,0 4 107168431 107168431 G C exonic TBCK nonsynonymous SNV TBCK:NM_033115:exon8:c.C607G:p.Q203E,TBCK:NM_001163435:exon10:c.C796G:p.Q266E,TBCK:NM_001163436:exon10:c.C796G:p.Q266E,TBCK:NM_001163437:exon10:c.C679G:p.Q227E,TBCK:NM_001290768:exon11:c.C280G:p.Q94E 0.99 1. 0.99 0.97 1. 1. 0.9944 0.9997 0.9613 0.9733 1 0.9999 1 0.9999 1. 1. 1. 0.99 1. rs3775091 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.513 N 1.000 0.198 P 0.005 0.080 N 3.02 0.090 T 0.93 0.016 N 0.355 0.416 -0.933 0.436 T 0.000 0.000 T . . . -0.596 0.050 0.128 0.178 0.005 0.138 0.178 N c -0.893 -0.714 1.000 0.747 0.732 0.924 0 4.74 0.596 2.875 0.479 0.067 0.174 0.990 0.367 0.988 0.529 10.671 0.448 Protein kinase domain|Protein kinase-like domain . . 0.9932 0.9999 0.9657 1 0.9708 1 1.0000 0.9960 0.9998 0.9981 1 0.9749 1 0.9763 1 1 0.9990 hom 1398.65 47 4 107168431 . G C 1398.65 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.99;MQ0=0;QD=29.76;VQSLOD=7.8129;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1432,108,0 4 108641300 108641300 T C exonic PAPSS1 synonymous SNV PAPSS1:NM_005443:exon1:c.A36G:p.K12K 0.88 0.8 0.9 0.88 0.9 0.96 0.8977 0.7977 0.8765 0.8843 0.9081 0.9070 0.8819 0.9417 0.87 0.79 0.91 0.71 0.93 rs973126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8970 0.7902 0.8761 0.8696 0.8798 0.9050 0.9078 0.9035 0.9417 0.8725 0.7985 0.8995 0.8642 0.8884 0.9147 0.9016 0.8857 het 1828.06 155 4 108641300 . T C 1828.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.073;DP=155;Dels=0.00;FS=2.837;HRun=0;HaplotypeScore=2.8865;MQ=56.90;MQ0=0;MQRankSum=0.986;QD=11.79;ReadPosRankSum=-0.911;VQSLOD=4.2648;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,75:155:99:1858,0,1983 4 108931039 108931039 T C exonic HADH nonsynonymous SNV HADH:NM_001184705:exon2:c.T257C:p.L86P,HADH:NM_001331027:exon2:c.T269C:p.L90P,HADH:NM_005327:exon2:c.T257C:p.L86P 0.87 0.67 0.95 0.98 0.92 0.92 0.9150 0.6957 0.9680 0.9733 0.9640 0.9311 0.9229 0.9006 0.85 0.7 0.92 0.8 0.84 rs4956145 . . Benign not_specified RCV000153344.2 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.001 0.451 P -1.965 0.002 N -1.07 0.770 T 5.9 0.000 N 0.196 0.244 -0.932 0.439 T 0.000 0.000 T . . . 1.024 0.192 10.80 0.143 0.003 0.048 0.104 N c -0.829 -0.607 1.000 0.747 0.732 0.924 0 4.34 0.511 4.871 0.625 0.016 0.142 1.000 0.715 0.965 0.450 12.044 0.526 3-hydroxyacyl-CoA dehydrogenase\x2c NAD binding|NAD(P)-binding domain ENSG00000138796.11 Cells_Transformed_fibroblasts 0.9216 0.6939 0.9628 0.9745 0.9755 0.9607 0.9258 0.9342 0.8966 0.8664 0.6960 0.9495 0.9702 0.9765 0.9574 0.9208 0.9398 hom 2596.24 87 4 108931039 . T C 2596.24 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.135;DP=87;Dels=0.00;FS=5.416;HRun=2;HaplotypeScore=6.9753;MQ=58.09;MQ0=0;MQRankSum=1.414;QD=29.84;ReadPosRankSum=0.737;VQSLOD=3.7376;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,86:87:99:2629,165,0 4 109674116 109674116 A G exonic ETNPPL nonsynonymous SNV ETNPPL:NM_001146627:exon5:c.T379C:p.S127P,ETNPPL:NM_001331033:exon5:c.T334C:p.S112P,ETNPPL:NM_001146590:exon6:c.T535C:p.S179P,ETNPPL:NM_001331031:exon6:c.T433C:p.S145P,ETNPPL:NM_001331032:exon6:c.T433C:p.S145P,ETNPPL:NM_031279:exon6:c.T553C:p.S185P 0.27 0.3 0.15 0.5 0.081 0.25 0.1593 0.2786 0.1557 0.4881 0.0827 0.0901 0.1520 0.2251 0.15 0.27 0.088 0.23 0.11 rs1377210 COSM4002896 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.997 0.227 P -0.13 0.045 N -2.16 0.866 D 1.77 0.006 N 0.019 0.034 -0.969 0.375 T 0.000 0.000 T . . . 0.627 0.154 8.343 0.115 0.002 0.159 0.189 N c -0.717 -0.494 0.083 0.159 0.615 0.372 0 4.61 0.566 4.857 0.624 0.138 0.222 1.000 0.715 0.104 0.190 10.662 0.447 Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 1 . . 0.1540 0.2776 0.1514 0.1231 0.4819 0.0793 0.0876 0.1224 0.2235 0.1640 0.2754 0.1439 0.1159 0.4634 0.0842 0.0916 0.1084 het 1298.55 106 4 109674116 . A G 1298.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.142;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6828;MQ=59.65;MQ0=0;MQRankSum=0.902;QD=12.25;ReadPosRankSum=1.073;VQSLOD=6.4736;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,50:106:99:1329,0,1585 4 109745336 109745336 T G exonic COL25A1 synonymous SNV COL25A1:NM_001256074:exon32:c.A1848C:p.G616G,COL25A1:NM_032518:exon34:c.A1839C:p.G613G,COL25A1:NM_198721:exon34:c.A1839C:p.G613G 0.31 0.34 0.26 0.35 0.34 0.24 0.3279 0.3581 0.2131 0.3882 0.3380 0.3528 0.3708 0.2520 0.35 0.34 0.36 0.34 0.3 rs7689008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3222 0.3553 0.2190 0.3351 0.3756 0.3449 0.3519 0.3417 0.2571 0.3558 0.3673 0.2679 0.3278 0.3724 0.3417 0.3578 0.3296 het 1896.85 186 4 109745336 . T G 1896.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.347;DP=186;Dels=0.00;FS=1.173;HRun=0;HaplotypeScore=11.7949;MQ=58.49;MQ0=0;MQRankSum=-0.022;QD=10.20;ReadPosRankSum=-0.117;VQSLOD=3.0698;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,80:186:99:1927,0,2780 4 109769942 109769942 T C exonic COL25A1 synonymous SNV COL25A1:NM_001256074:exon23:c.A1326G:p.P442P,COL25A1:NM_032518:exon26:c.A1407G:p.P469P,COL25A1:NM_198721:exon26:c.A1407G:p.P469P 0.0094 0.0023 . . 0.031 0.013 0.0186 0.0038 0.0093 0.0001 0.0045 0.0264 0.0156 0.0183 0.022 0.0052 0.03 . 0.016 rs112032233 COSM328152 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0198 0.0040 0.0118 0.0810 5.799e-05 0.0050 0.0254 0.0183 0.0183 0.0150 0.0049 0.0107 0.1026 0 0.0031 0.0239 0.0133 het 709.78 74 4 109769942 . T C 709.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.432;DP=74;Dels=0.00;FS=3.176;HRun=2;HaplotypeScore=1.6988;MQ=58.52;MQ0=0;MQRankSum=0.164;QD=9.59;ReadPosRankSum=0.723;VQSLOD=5.0867;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,31:74:99:740,0,1195 4 110384790 110384790 A G exonic SEC24B synonymous SNV SEC24B:NM_001042734:exon2:c.A867G:p.P289P,SEC24B:NM_001318085:exon2:c.A867G:p.P289P,SEC24B:NM_001318086:exon2:c.A867G:p.P289P,SEC24B:NM_006323:exon2:c.A867G:p.P289P,SEC24B:NM_001300813:exon3:c.A960G:p.P320P 0.071 0.11 0.059 . 0.093 0.083 0.0948 0.1284 0.0434 0.0005 0.0514 0.1123 0.1075 0.1089 0.11 0.12 0.11 0.12 0.11 rs33911248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0912 0.1277 0.0453 0.1250 0.0003 0.0511 0.1146 0.0970 0.1076 0.1006 0.1327 0.0561 0.1159 0 0.0524 0.1066 0.0957 het 1472.04 127 4 110384790 . A G 1472.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.252;DP=127;Dels=0.00;FS=4.557;HRun=0;HaplotypeScore=3.6540;MQ=59.27;MQ0=0;MQRankSum=0.210;QD=11.59;ReadPosRankSum=1.275;VQSLOD=5.1417;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,63:127:99:1502,0,1770 4 110603784 110603784 T C exonic MCUB synonymous SNV MCUB:NM_017918:exon5:c.T498C:p.S166S 0.69 0.86 0.62 0.52 0.66 0.75 0.6753 0.8188 0.6232 0.5466 0.6820 0.6584 0.6718 0.7550 0.72 0.82 0.66 0.76 0.72 rs3733611 COSM4002900;COSM4002899 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6688 0.8201 0.6220 0.5875 0.5427 0.6794 0.6634 0.6713 0.7528 0.7100 0.8249 0.5895 0.5695 0.5342 0.6951 0.6765 0.6885 het 2232.29 175 4 110603784 . T C 2232.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.344;DP=175;Dels=0.00;FS=1.194;HRun=1;HaplotypeScore=5.4523;MQ=59.39;MQ0=0;MQRankSum=-0.062;QD=12.76;ReadPosRankSum=0.821;VQSLOD=5.3605;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,84:175:99:2262,0,2496 4 110681505 110681505 C T exonic CFI synonymous SNV CFI:NM_000204:exon6:c.G804A:p.S268S,CFI:NM_001318057:exon6:c.G804A:p.S268S,CFI:NM_001331035:exon6:c.G804A:p.S268S 0.31 0.36 0.44 0.31 0.25 0.23 0.2837 0.3579 0.4392 0.2994 0.2936 0.2554 0.2996 0.2296 0.29 0.37 0.26 0.41 0.19 rs2298749 COSM3760331 1(upper_aerodigestive_tract);1(large_intestine) Benign Atypical_hemolytic_uremic_syndrome RCV000305144.1 MedGen:Orphanet C2931788:ORPHA2134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2920 0.3645 0.4418 0.3018 0.3053 0.2920 0.2497 0.3003 0.2343 0.3022 0.3612 0.4246 0.3133 0.3038 0.2971 0.2628 0.2872 het 1506.08 130 4 110681505 . C T 1506.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.776;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5537;MQ=58.50;MQ0=0;MQRankSum=-1.546;QD=11.59;ReadPosRankSum=1.245;VQSLOD=3.7087;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,63:130:99:1536,0,1566 4 110790911 110790911 A T exonic LRIT3 nonsynonymous SNV LRIT3:NM_198506:exon4:c.A1006T:p.M336L 0.47 0.39 0.4 0.49 0.64 0.43 0.5669 0.4280 0.3417 0.4940 0.6115 0.6513 0.5728 0.4903 0.57 0.43 0.65 0.38 0.65 rs764205 COSM1131303;COSM1131304;COSM3927812 4(prostate);1(thyroid) Benign|Benign not_specified|Congenital_Stationary_Night_Blindness\x2c_Recessive RCV000178414.1|RCV000366843.1 MedGen|MedGen CN169374|CN239273 . . . . . . 0.084 0.329 T 0.375 0.324 B 0.097 0.288 B 0.516 0.118 N 1 0.090 P 0.65 0.162 N -0.2 0.661 T -0.72 0.204 N 0.145 0.188 -0.918 0.458 T 0.000 0.000 T . . . 1.469 0.239 13.15 0.880 0.171 0.565 0.299 D c -0.503 -0.433 0.001 0.075 0.554 0.246 0 3.12 0.348 2.356 0.435 0.167 0.246 0.270 0.248 0.981 0.494 8.129 0.300 Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000109534.12|ENSG00000180245.4|ENSG00000180245.4|ENSG00000109534.12|ENSG00000109534.12|ENSG00000183423.7|ENSG00000183423.7 Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Esophagus_Mucosa|Lung|Nerve_Tibial 0.5602 0.4211 0.3510 0.6440 0.4922 0.6191 0.6529 0.5592 0.4904 0.5637 0.4295 0.3902 0.6093 0.5167 0.6119 0.6423 0.5951 het 1952.13 174 4 110790911 . A T 1952.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.300;DP=174;Dels=0.00;FS=1.327;HRun=1;HaplotypeScore=5.3491;MQ=58.85;MQ0=0;MQRankSum=-0.336;QD=11.22;ReadPosRankSum=0.510;VQSLOD=4.6008;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,74:174:99:1982,0,2849 4 110901198 110901198 G A exonic EGF nonsynonymous SNV EGF:NM_001178131:exon13:c.G1998A:p.M666I,EGF:NM_001178130:exon14:c.G2124A:p.M708I,EGF:NM_001963:exon14:c.G2124A:p.M708I 0.62 0.88 0.58 0.67 0.36 0.5 0.4658 0.8194 0.5627 0.6886 0.3401 0.3741 0.4218 0.4820 0.53 0.81 0.38 0.67 0.47 rs2237051 COSM3760339 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Renal_Hypomagnesemia\x2c_Recessive RCV000261366.1 MedGen CN239444 . . . . . . 0.939 0.049 T 0.0 0.026 B 0.0 0.013 B 0.002 0.387 N 1.000 0.090 P -1.6 0.004 N -2.71 0.906 D 0.2 0.049 N 0.044 0.081 -0.944 0.420 T 0.000 0.000 T . . . 0.402 0.133 6.634 0.591 0.060 0.066 0.125 N c -1.303 -1.104 1.000 0.517 0.653 0.482 0 1.54 0.222 -0.003 0.127 -0.654 0.041 0.374 0.257 0.961 0.442 1.653 0.026 Six-bladed beta-propeller\x2c TolB-like . . 0.4621 0.8267 0.5470 0.4617 0.6840 0.3319 0.3741 0.4461 0.4805 0.5261 0.8174 0.5537 0.4570 0.6851 0.3438 0.3888 0.4223 het 2473.57 181 4 110901198 . G A 2473.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.367;DP=181;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7467;MQ=59.53;MQ0=0;MQRankSum=1.060;QD=13.67;ReadPosRankSum=0.087;VQSLOD=6.4810;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,93:181:99:2504,0,2419 4 110914427 110914427 A T exonic EGF nonsynonymous SNV EGF:NM_001178131:exon18:c.A2633T:p.E878V,EGF:NM_001963:exon19:c.A2759T:p.E920V 0.92 0.98 0.91 1. 0.8 0.88 0.8407 0.9682 0.9380 0.9993 0.8044 0.7831 0.8315 0.8568 0.85 0.96 0.79 0.97 0.81 rs4698803 . . Benign Renal_Hypomagnesemia\x2c_Recessive RCV000323639.1 MedGen CN239444 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.066 0.022 N 1 0.090 P 0.895 0.225 L 2.01 0.957 T 1.84 0.007 N 0.038 0.018 -0.902 0.478 T 0.000 0.000 T . . . -0.961 0.033 0.019 0.786 0.119 0.003 0.017 N c -1.443 -1.415 0.991 0.324 0.615 0.372 0 1.32 0.208 -1.394 0.026 -0.688 0.038 0.000 0.063 0.007 0.100 3.243 0.063 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain . . 0.8453 0.9693 0.9312 0.8470 0.9991 0.7992 0.7837 0.8485 0.8591 0.8588 0.9638 0.9199 0.8609 0.9994 0.8007 0.7942 0.8292 hom 6043.31 202 4 110914427 . A T 6043.31 Mask AC=2;AF=1.00;AN=2;DP=202;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6457;MQ=59.59;MQ0=0;QD=29.92;VQSLOD=8.3409;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:202:99:6042,490,0 4 111398208 111398208 A G exonic ENPEP nonsynonymous SNV ENPEP:NM_001977:exon1:c.A638G:p.Q213R 0.85 0.88 0.93 0.79 0.86 0.79 0.8650 0.8799 0.9472 0.8068 0.8157 0.8748 0.8655 0.8095 0.88 0.88 0.88 0.79 0.8 rs10004516 COSM3760340 1(large_intestine) . . . . . . . . . . . 0.526 0.071 T 0.154 0.265 B 0.124 0.310 B 0.711 0.100 N 1 0.090 P 1.665 0.427 L 4.27 0.025 T -0.39 0.136 N 0.029 0.010 -1.091 0.054 T 0.000 0.000 T . . . 0.272 0.120 5.421 0.820 0.135 0.223 0.215 N c -0.810 -0.801 0.981 0.301 0.554 0.283 0 0.091 0.137 -0.250 0.088 1.088 0.866 0.000 0.063 0.852 0.355 2.703 0.048 Peptidase M1\x2c membrane alanine aminopeptidase\x2c N-terminal ENSG00000138792.5|ENSG00000250511.1|ENSG00000138792.5 Cells_Transformed_fibroblasts|Lung|Lung 0.8642 0.8850 0.9417 0.8360 0.8031 0.8113 0.8765 0.8649 0.8076 0.8680 0.8849 0.9248 0.8344 0.7973 0.8227 0.8754 0.8449 hom 3199.07 103 4 111398208 . A G 3199.07 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2625;MQ=59.09;MQ0=0;QD=31.06;VQSLOD=8.9095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3232,259,0 4 113199075 113199075 A G exonic TIFA synonymous SNV TIFA:NM_052864:exon2:c.T498C:p.Y166Y 0.65 0.89 0.63 0.75 0.51 0.38 0.5586 0.8386 0.6736 0.7400 0.4698 0.5197 0.5333 0.3979 0.63 0.84 0.52 0.73 0.52 rs701759 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5601 0.8427 0.6820 0.6219 0.7429 0.4694 0.5127 0.5638 0.3999 0.6072 0.8296 0.6543 0.6887 0.7466 0.4702 0.4971 0.5072 hom 1201.57 41 4 113199075 . A G 1201.57 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.564;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=1.310;QD=29.31;ReadPosRankSum=0.718;VQSLOD=8.3712;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,40:41:93.30:1235,93,0 4 113345147 113345147 A G exonic ALPK1 nonsynonymous SNV ALPK1:NM_001253884:exon5:c.A289G:p.N97D,ALPK1:NM_001102406:exon6:c.A523G:p.N175D,ALPK1:NM_025144:exon6:c.A523G:p.N175D 0.051 0.053 0.068 0.002 0.12 0.018 0.0769 0.0750 0.0520 0.0003 0.1014 0.1033 0.0892 0.0182 0.099 0.074 0.11 0.043 0.082 rs6533616 COSM3736330 2(skin);1(large_intestine) . . . . . . . . . . . 0.068 0.357 T 0.007 0.131 B 0.009 0.133 B 0.009 0.304 N 0.983 0.249 P 1.445 0.365 L 1.55 0.299 T -1.22 0.316 N 0.052 0.196 -1.071 0.091 T 0.001 0.003 T . . . 1.993 0.300 16.16 0.988 0.457 0.495 0.282 N c -0.485 -0.372 0.062 0.153 0.638 0.428 0 3.16 0.353 1.208 0.317 1.088 0.866 0.458 0.264 0.991 0.552 5.558 0.163 . ENSG00000073331.13|ENSG00000138658.11|ENSG00000073331.13|ENSG00000138658.11|ENSG00000073331.13|ENSG00000138658.11|ENSG00000073331.13|ENSG00000073331.13|ENSG00000073331.13 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.0771 0.0725 0.0543 0.0997 0.0005 0.0974 0.1061 0.0864 0.0186 0.0876 0.0710 0.0632 0.1026 0 0.0880 0.1078 0.0876 het 807.89 68 4 113345147 . A G 807.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.533;DP=68;Dels=0.00;FS=3.466;HRun=0;HaplotypeScore=1.9155;MQ=59.11;MQ0=0;MQRankSum=-0.374;QD=11.88;ReadPosRankSum=-1.490;VQSLOD=6.0092;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,34:68:99:838,0,833 4 113352397 113352397 G A exonic ALPK1 nonsynonymous SNV ALPK1:NM_001253884:exon10:c.G1460A:p.G487D,ALPK1:NM_001102406:exon11:c.G1694A:p.G565D,ALPK1:NM_025144:exon11:c.G1694A:p.G565D 0.63 0.72 0.56 0.64 0.62 0.55 0.6220 0.7041 0.5300 0.6508 0.6531 0.6372 0.6189 0.5463 0.65 0.7 0.63 0.66 0.68 rs2074388 . . . . . . . . . . . . . 0.042 0.433 D 0.996 0.670 D 0.801 0.564 P 0.424 0.128 N 1 0.090 P 2.28 0.651 M 4.31 0.024 T -0.44 0.166 N 0.474 0.524 -1.097 0.044 T 0.000 0.000 T . . . 0.234 0.116 5.038 0.991 0.527 0.090 0.147 N c -0.306 -0.522 0.004 0.102 0.693 0.558 0 1.76 0.237 0.750 0.258 0.953 0.551 0.005 0.169 0.026 0.142 7.727 0.278 . ENSG00000249509.1 Testis 0.6155 0.7048 0.5364 0.6406 0.6473 0.6503 0.6316 0.6021 0.5501 0.6637 0.7101 0.5829 0.6291 0.6543 0.6319 0.6512 0.6513 hom 4971.17 163 4 113352397 . G A 4971.17 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.647;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8637;MQ=59.17;MQ0=0;MQRankSum=1.562;QD=30.50;ReadPosRankSum=1.668;VQSLOD=8.5444;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,162:163:99:4971,397,0 4 113352628 113352628 A G exonic ALPK1 nonsynonymous SNV ALPK1:NM_001253884:exon10:c.A1691G:p.H564R,ALPK1:NM_001102406:exon11:c.A1925G:p.H642R,ALPK1:NM_025144:exon11:c.A1925G:p.H642R 0.66 0.75 0.58 0.7 0.65 0.56 0.6495 0.7280 0.5520 0.7159 0.6889 0.6639 0.6586 0.5594 0.68 0.73 0.66 0.69 0.7 rs13148353 . . . . . . . . . . . . . 0.217 0.203 T 0.0 0.026 B 0.0 0.013 B 0.008 0.313 N 1 0.090 P 0 0.065 N 4.34 0.024 T 0.48 0.034 N 0.016 0.003 -1.094 0.050 T 0.000 0.000 T . . . -0.322 0.067 0.591 0.599 0.062 0.026 0.071 N c -1.317 -1.267 0.022 0.134 0.693 0.558 0 2.53 0.295 0.270 0.182 -1.444 0.011 0.003 0.159 0.005 0.090 3.992 0.090 . ENSG00000138658.11|ENSG00000249509.1 Artery_Tibial|Testis 0.6443 0.7285 0.5581 0.7049 0.7107 0.6867 0.6568 0.6423 0.5643 0.6921 0.7342 0.5995 0.7086 0.7243 0.6727 0.6738 0.6878 hom 4190.03 141 4 113352628 . A G 4190.03 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7172;MQ=59.44;MQ0=0;QD=29.72;VQSLOD=9.0183;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4189,343,0 4 113352899 113352899 G A exonic ALPK1 nonsynonymous SNV ALPK1:NM_001253884:exon10:c.G1962A:p.M654I,ALPK1:NM_001102406:exon11:c.G2196A:p.M732I,ALPK1:NM_025144:exon11:c.G2196A:p.M732I 0.63 0.72 0.56 0.64 0.62 0.55 0.6225 0.7049 0.5302 0.6528 0.6531 0.6373 0.6222 0.5474 0.65 0.7 0.63 0.66 0.67 rs2074379 . . . . . . . . . . . . . 0.302 0.146 T 0.0 0.026 B 0.002 0.063 B 0.769 0.096 N 1 0.090 P 0.69 0.170 N 4.41 0.022 T -0.09 0.088 N 0.065 0.051 -1.057 0.126 T 0.000 0.000 T . . . -0.350 0.065 0.510 0.491 0.041 0.106 0.159 N c -1.002 -0.947 0.013 0.124 0.638 0.428 0 3.31 0.369 0.207 0.171 0.067 0.174 0.000 0.063 0.006 0.095 10.926 0.462 . ENSG00000249509.1 Testis 0.6158 0.7049 0.5366 0.6406 0.6493 0.6504 0.6316 0.6021 0.5511 0.6639 0.7105 0.5835 0.6291 0.6569 0.6319 0.6511 0.6497 hom 3757.40 122 4 113352899 . G A 3757.40 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;QD=30.80;VQSLOD=9.4311;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3757,292,0 4 113353052 113353052 C T exonic ALPK1 synonymous SNV ALPK1:NM_001253884:exon10:c.C2115T:p.S705S,ALPK1:NM_001102406:exon11:c.C2349T:p.S783S,ALPK1:NM_025144:exon11:c.C2349T:p.S783S 0.049 0.02 0.075 0.001 0.15 0.017 0.0923 0.0375 0.0563 0.0004 0.1532 0.1304 0.1128 0.0206 0.1 0.039 0.14 0.022 0.09 rs17044681 COSM3760341 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0941 0.0357 0.0591 0.1073 0.0006 0.1517 0.1343 0.1036 0.0215 0.1032 0.0440 0.0692 0.1093 0 0.1375 0.1414 0.1202 het 2012.97 137 4 113353052 . C T 2012.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.737;DP=137;Dels=0.00;FS=5.201;HRun=1;HaplotypeScore=7.9674;MQ=59.19;MQ0=0;MQRankSum=-0.978;QD=14.69;ReadPosRankSum=0.026;VQSLOD=3.9360;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:64,73:137:99:2043,0,1557 4 113353285 113353285 T C exonic ALPK1 nonsynonymous SNV ALPK1:NM_001253884:exon10:c.T2348C:p.M783T,ALPK1:NM_001102406:exon11:c.T2582C:p.M861T,ALPK1:NM_025144:exon11:c.T2582C:p.M861T 0.66 0.75 0.58 0.7 0.65 0.56 0.6497 0.7285 0.5523 0.7143 0.6889 0.6642 0.6586 0.5598 0.68 0.73 0.66 0.69 0.66 rs11726117 COSM4158751 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.139 0.183 N 1 0.090 P -2.075 0.002 N 4.37 0.023 T 0.55 0.027 N 0.037 0.017 -1.047 0.151 T 0.000 0.000 T . . . -1.013 0.031 0.015 0.163 0.004 0.003 0.017 N c -1.697 -1.579 0.003 0.101 0.693 0.558 0 1.74 0.235 -1.336 0.027 -0.417 0.060 0.000 0.063 0.025 0.141 4.870 0.129 . ENSG00000138658.11|ENSG00000249509.1 Artery_Tibial|Testis 0.6444 0.7288 0.5581 0.7047 0.7106 0.6864 0.6569 0.6420 0.5649 0.6925 0.7354 0.5990 0.7086 0.7243 0.6723 0.6741 0.6878 hom 4410.41 134 4 113353285 . T C 4410.41 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.83;MQ0=0;QD=32.91;VQSLOD=9.3617;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4410,358,0 4 113359703 113359703 A G exonic ALPK1 synonymous SNV ALPK1:NM_001253884:exon12:c.A3018G:p.R1006R,ALPK1:NM_001102406:exon13:c.A3252G:p.R1084R,ALPK1:NM_025144:exon13:c.A3252G:p.R1084R 0.66 0.75 0.57 0.7 0.66 0.57 0.6553 0.7302 0.5515 0.7173 0.7126 0.6693 0.6663 0.5681 0.68 0.73 0.66 0.7 0.71 rs231247 COSM4158752 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6498 0.7308 0.5582 0.7105 0.7119 0.7077 0.6610 0.6467 0.5733 0.6995 0.7360 0.5969 0.7119 0.7259 0.7012 0.6806 0.7 hom 3427.69 106 4 113359703 . A G 3427.69 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7046;MQ=58.84;MQ0=0;QD=32.34;VQSLOD=9.5539;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3427,259,0 4 113436044 113436044 T G exonic NEUROG2 synonymous SNV NEUROG2:NM_024019:exon2:c.A588C:p.G196G 0.96 1. 0.93 1. 0.86 0.98 0.9002 0.9796 0.9473 0.9989 0.8230 0.8564 0.8819 0.9639 0.9 0.98 0.86 0.8 0.25 rs901474 COSM3749850 1(thyroid);8(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8964 0.9796 0.9408 0.8181 0.9994 0.8205 0.8585 0.8863 0.9618 0.8973 0.9759 0.9330 0.83 0.9981 0.8253 0.8590 0.8661 het 131.68 18 4 113436044 . T G 131.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.910;DP=18;Dels=0.00;FS=4.393;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.311;QD=7.32;ReadPosRankSum=0.400;VQSLOD=4.9953;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:162,0,320 4 115544714 115544714 A G exonic UGT8 synonymous SNV UGT8:NM_003360:exon1:c.A678G:p.P226P,UGT8:NM_001128174:exon2:c.A678G:p.P226P,UGT8:NM_001322113:exon2:c.A678G:p.P226P,UGT8:NM_001322114:exon2:c.A678G:p.P226P,UGT8:NM_001322112:exon3:c.A678G:p.P226P 0.98 0.94 0.99 1. 1. 1. 0.9927 0.9270 0.9954 0.9997 1 0.9990 0.9978 0.9999 0.97 0.93 1. 0.86 1. rs6851610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9939 0.9237 0.9953 0.9907 0.9998 1 0.9995 0.9954 0.9998 0.9773 0.9219 0.9940 0.9901 1 1 0.9995 0.9919 hom 4164.34 136 4 115544714 . A G 4164.34 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6221;MQ=58.94;MQ0=0;QD=30.62;VQSLOD=9.2423;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4164,346,0 4 115589302 115589302 A G exonic UGT8 nonsynonymous SNV UGT8:NM_003360:exon4:c.A1104G:p.I368M,UGT8:NM_001128174:exon5:c.A1104G:p.I368M,UGT8:NM_001322113:exon5:c.A1104G:p.I368M,UGT8:NM_001322114:exon5:c.A1104G:p.I368M,UGT8:NM_001322112:exon6:c.A1104G:p.I368M 0.99 0.96 1. 1. 1. 1. 0.9958 0.9554 0.9965 1 1 0.9999 0.9989 1 0.98 0.95 1. 0.98 1. rs11098261 . . . . . . . . . . . . . 0.267 0.162 T 0.007 0.131 B 0.064 0.257 B 0.000 0.843 N 1.000 0.198 P 0.82 0.209 L -0.33 0.683 T -1.86 0.435 N 0.192 0.260 -1.040 0.172 T 0.000 0.000 T . . . 0.592 0.151 8.103 0.809 0.129 0.070 0.129 N c -0.476 -0.368 0.001 0.077 0.706 0.609 0 1.96 0.251 5.763 0.682 0.136 0.221 1.000 0.715 0.999 0.750 7.590 0.270 . . . 0.9965 0.9526 0.9968 0.9992 1 1 0.9999 0.9971 0.9999 0.9873 0.9563 0.9964 1 1 1 0.9997 0.9959 hom 4713.16 149 4 115589302 . A G 4713.16 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6588;MQ=59.03;MQ0=0;QD=31.63;VQSLOD=9.5111;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4713,355,0 4 119161795 119161795 G A exonic NDST3 synonymous SNV NDST3:NM_004784:exon11:c.G2235A:p.P745P 0.25 0.045 0.36 0.21 0.37 0.36 0.3500 0.0806 0.4388 0.2116 0.2883 0.4002 0.3568 0.3522 0.3 0.095 0.4 0.13 0.32 rs617430 COSM1131293 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3556 0.0772 0.4338 0.3992 0.2121 0.2945 0.3998 0.3694 0.3573 0.2855 0.0922 0.4103 0.4040 0.2301 0.2867 0.3932 0.3055 hom 3903.01 133 4 119161795 . G A 3903.01 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.706;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1316;MQ=59.51;MQ0=0;MQRankSum=-1.548;QD=29.35;ReadPosRankSum=-0.472;VQSLOD=7.7772;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,131:133:99:3902,310,0 4 119736796 119736796 A C exonic SEC24D synonymous SNV SEC24D:NM_001318066:exon5:c.T483G:p.P161P,SEC24D:NM_014822:exon5:c.T483G:p.P161P 0.44 0.24 0.58 0.55 0.44 0.48 0.4624 0.2884 0.6094 0.5328 0.4749 0.4537 0.4504 0.4634 0.4 0.29 0.45 0.38 0.5 rs2389688 COSM1131292 2(haematopoietic_and_lymphoid_tissue);1(prostate);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4718 0.2812 0.6065 0.5450 0.5336 0.4726 0.4461 0.4754 0.4536 0.4121 0.2911 0.5372 0.5033 0.5509 0.4851 0.4376 0.4764 hom 2777.88 92 4 119736796 . A C 2777.88 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=30.19;VQSLOD=9.0094;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2811,235,0 4 119944611 119944611 G T exonic SYNPO2 synonymous SNV SYNPO2:NM_001128933:exon2:c.G132T:p.G44G,SYNPO2:NM_001128934:exon2:c.G132T:p.G44G,SYNPO2:NM_001286754:exon2:c.G39T:p.G13G,SYNPO2:NM_001286755:exon2:c.G132T:p.G44G,SYNPO2:NM_133477:exon2:c.G132T:p.G44G 0.41 0.19 0.48 0.45 0.5 0.53 0.4661 0.2279 0.5107 0.4637 0.4649 0.4827 0.4680 0.5194 0.41 0.23 0.5 0.47 0.41 rs1459058 COSM3760353;COSM3760354;COSM3760352 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4704 0.2243 0.4989 0.3511 0.4586 0.4658 0.4943 0.46 0.5253 0.4185 0.2324 0.4713 0.3733 0.4658 0.4808 0.5023 0.4611 hom 1743.78 57 4 119944611 . G T 1743.78 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=30.59;VQSLOD=8.4151;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1777,150,0 4 119951647 119951647 A G exonic SYNPO2 nonsynonymous SNV SYNPO2:NM_001128933:exon4:c.A1717G:p.T573A,SYNPO2:NM_001128934:exon4:c.A1717G:p.T573A,SYNPO2:NM_001286754:exon4:c.A1624G:p.T542A,SYNPO2:NM_133477:exon4:c.A1717G:p.T573A 0.84 0.81 0.9 0.87 0.87 0.8 0.8485 0.8139 0.8634 0.8716 0.8161 0.8637 0.8355 0.7998 0.85 0.82 0.87 0.86 0.85 rs7698598 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.682 0.102 N 1 0.090 P -1.735 0.003 N 1.06 0.398 T 0.37 0.053 N 0.004 0.169 -1.021 0.233 T 0.000 0.000 T . . . -2.672 0.002 0.001 0.134 0.003 0.001 0.007 N c -1.296 -1.233 1.000 0.420 0.554 0.246 0 1.88 0.245 0.488 0.219 0.104 0.200 0.093 0.224 0.015 0.124 3.138 0.060 . . . 0.8525 0.8196 0.8710 0.8864 0.8766 0.8159 0.8657 0.8695 0.7997 0.8446 0.8165 0.8684 0.8742 0.8745 0.8113 0.8639 0.8378 hom 6680.03 202 4 119951647 . A G 6680.03 Mask AC=2;AF=1.00;AN=2;DP=202;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.6988;MQ=59.31;MQ0=0;QD=33.07;VQSLOD=9.8557;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:202:99:6679,518,0 4 120214030 120214030 T G exonic USP53 nonsynonymous SNV USP53:NM_019050:exon18:c.T2886G:p.S962R 0.24 0.12 0.28 0.39 0.3 0.18 0.2760 0.1358 0.3041 0.3907 0.2673 0.3020 0.2722 0.1785 0.26 0.14 0.31 0.17 0.29 rs3749591 COSM149731 1(stomach);1(haematopoietic_and_lymphoid_tissue);4(prostate);1(large_intestine) . . . . . . . . . . . 0.035 0.437 D 0.501 0.353 P 0.08 0.274 B 0.767 0.096 N 1 0.090 P 2.25 0.640 M 0.83 0.478 T -1.01 0.266 N 0.06 0.059 -0.981 0.347 T 0.000 0.000 T . . . 1.279 0.218 12.16 0.988 0.462 0.111 0.163 N c -0.774 -0.858 0.946 0.277 0.719 0.830 0 -1.66 0.078 -0.171 0.098 -0.264 0.087 0.000 0.063 0.962 0.444 6.327 0.203 . ENSG00000249244.1|ENSG00000245958.2|ENSG00000245958.2|ENSG00000145384.3|ENSG00000260091.1|ENSG00000260404.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000249244.1|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000249244.1|ENSG00000245958.2|ENSG00000249244.1|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000249244.1|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000145384.3|ENSG00000249244.1|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000260091.1|ENSG00000260091.1|ENSG00000245958.2|ENSG00000249244.1|ENSG00000145384.3|ENSG00000260404.2|ENSG00000245958.2|ENSG00000249244.1|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000249244.1|ENSG00000260404.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000164096.10|ENSG00000260091.1|ENSG00000260404.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000164096.10|ENSG00000260091.1|ENSG00000260404.2|ENSG00000245958.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2803 0.1371 0.2963 0.2172 0.3884 0.2722 0.3152 0.2701 0.1747 0.2559 0.1354 0.2692 0.2152 0.3866 0.2696 0.3080 0.2678 het 1313.18 83 4 120214030 . T G 1313.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.329;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=59.72;MQ0=0;MQRankSum=-0.935;QD=15.82;ReadPosRankSum=-0.634;VQSLOD=6.0920;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,44:83:99:1343,0,995 4 120240238 120240238 T C exonic FABP2 synonymous SNV FABP2:NM_000134:exon4:c.A357G:p.V119V 0.33 0.4 0.33 0.39 0.31 0.2 0.3134 0.3865 0.3214 0.4037 0.2960 0.3160 0.3079 0.2114 0.34 0.38 0.33 0.17 0.27 rs1511025 COSM4002918 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3089 0.3839 0.3051 0.2126 0.3940 0.3016 0.3246 0.2984 0.2071 0.3336 0.3771 0.2798 0.1954 0.3883 0.2963 0.3190 0.2998 het 1082.28 101 4 120240238 . T C 1082.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.962;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7128;MQ=59.15;MQ0=0;MQRankSum=1.254;QD=10.72;ReadPosRankSum=0.161;VQSLOD=6.6197;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,45:101:99:1112,0,1365 4 120241849 120241849 A G exonic FABP2 synonymous SNV FABP2:NM_000134:exon2:c.T216C:p.N72N 0.59 0.55 0.65 0.65 0.57 0.53 0.5679 0.5579 0.6707 0.6435 0.5176 0.5581 0.5817 0.5218 0.56 0.55 0.57 0.42 0.65 rs4834770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5633 0.5482 0.6378 0.6342 0.6305 0.5080 0.5546 0.5734 0.5032 0.5562 0.5545 0.6259 0.5960 0.6363 0.5055 0.5568 0.5409 het 357.88 46 4 120241849 . A G 357.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.845;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.14;MQ0=0;MQRankSum=-0.068;QD=7.78;ReadPosRankSum=-0.319;VQSLOD=5.6666;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,17:46:99:388,0,662 4 120241902 120241902 T C exonic FABP2 nonsynonymous SNV FABP2:NM_000134:exon2:c.A163G:p.T55A 0.75 0.78 0.77 0.75 0.73 0.69 0.7261 0.7697 0.7499 0.7360 0.7286 0.7251 0.7291 0.6794 0.75 0.77 0.74 0.65 0.74 rs1799883 COSM4771472 1(haematopoietic_and_lymphoid_tissue);15(soft_tissue);1(pancreas);1(skin) Benign FATTY_ACID-BINDING_PROTEIN\x2c_INTESTINAL\x2c_POLYMORPHISM_OF RCV000017958.2 . . . . . . . . 0.032 0.446 D . . . . . . 0.185 0.170 N 1 0.090 P . . . 2.94 0.098 T -3.76 0.712 D 0.008 0.000 -1.094 0.049 T 0.000 0.000 T . . . 0.394 0.132 6.560 0.784 0.119 0.241 0.221 N c -0.654 -0.786 0.000 0.046 0.487 0.133 0 0.048 0.135 0.413 0.207 -0.205 0.101 0.101 0.226 0.101 0.189 9.506 0.380 Calycin|Calycin-like|Lipocalin/cytosolic fatty-acid binding domain ENSG00000245958.2|ENSG00000245958.2|ENSG00000145384.3|ENSG00000145384.3|ENSG00000245958.2|ENSG00000260091.1|ENSG00000164096.10|ENSG00000260404.2 Artery_Aorta|Cells_Transformed_fibroblasts|Colon_Transverse|Heart_Atrial_Appendage|Nerve_Tibial|Testis|Whole_Blood|Whole_Blood 0.7250 0.7698 0.7329 0.7418 0.7327 0.7215 0.7281 0.7282 0.6743 0.7361 0.7663 0.7309 0.7119 0.7246 0.7146 0.7270 0.7141 het 548.33 57 4 120241902 . T C 548.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.697;DP=57;Dels=0.00;FS=1.039;HRun=0;HaplotypeScore=3.8840;MQ=58.30;MQ0=0;MQRankSum=0.205;QD=9.62;ReadPosRankSum=0.664;VQSLOD=5.5626;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,22:57:99:578,0,892 4 120422407 120422407 T G exonic PDE5A nonsynonymous SNV PDE5A:NM_001083:exon20:c.A2408C:p.D803A,PDE5A:NM_033430:exon20:c.A2282C:p.D761A,PDE5A:NM_033437:exon20:c.A2252C:p.D751A . . . . . . 0.0010 0.0002 0 0 0.0002 0.0019 0 0 0.0006 . 0.0009 . . rs149385790 . . . . . . . . . . . . . 0.656 0.047 T 0.416 0.629 B 0.071 0.495 B 0.000 0.843 D 1 0.810 D 0.095 0.085 N -1.46 0.810 T -2.75 0.584 D 0.923 0.933 -0.937 0.431 T 0.140 0.460 T 0.104 0.779 D 4.743 0.636 24.7 0.988 0.464 0.995 0.965 D c 0.497 0.541 1.000 0.747 0.651 0.465 0 5.29 0.743 7.346 0.784 0.913 0.425 1.000 0.715 1.000 0.888 15.215 0.728 -cyclic nucleotide phosphodiesterase\x2c catalytic domain;-cyclic nucleotide phosphodiesterase\x2c catalytic domain|3'-cyclic nucleotide phosphodiesterase\x2c catalytic domain|HD/PDEase domain;3'5&apos . . 0.0008 0.0002 8.964e-05 0 0 0.0001 0.0016 0.0004 0 0.0006 0.0003 0 0 0 0 0.0010 0.0010 het 789.84 67 4 120422407 . T G 789.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.215;DP=67;Dels=0.00;FS=3.576;HRun=0;HaplotypeScore=0.8667;MQ=58.39;MQ0=0;MQRankSum=1.187;QD=11.79;ReadPosRankSum=-0.263;VQSLOD=3.9934;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,32:67:99:820,0,856 4 120474859 120474859 A G exonic PDE5A synonymous SNV PDE5A:NM_001083:exon8:c.T1242C:p.Y414Y,PDE5A:NM_033430:exon8:c.T1116C:p.Y372Y,PDE5A:NM_033437:exon8:c.T1086C:p.Y362Y 0.27 0.21 0.29 0.39 0.29 0.17 0.2656 0.2085 0.2981 0.3900 0.2571 0.2773 0.2721 0.1699 0.26 0.21 0.29 0.17 0.25 rs11947234 COSM4002921;COSM4002922 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2669 0.2067 0.2845 0.2046 0.3843 0.2612 0.2875 0.2511 0.1647 0.2614 0.2045 0.2530 0.1987 0.3814 0.2610 0.2833 0.2633 het 1267.63 136 4 120474859 . A G 1267.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.528;DP=136;Dels=0.00;FS=1.431;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=-0.554;QD=9.32;ReadPosRankSum=0.062;VQSLOD=5.9201;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,55:136:99:1298,0,1994 4 120528327 120528327 G A exonic PDE5A nonsynonymous SNV PDE5A:NM_001083:exon2:c.C278T:p.A93V,PDE5A:NM_033430:exon2:c.C152T:p.A51V,PDE5A:NM_033437:exon2:c.C122T:p.A41V 0.81 0.7 0.86 0.9 0.81 0.84 0.8226 0.6969 0.9106 0.8952 0.7564 0.8204 0.8282 0.8371 0.78 0.7 0.82 0.76 0.86 rs3733526 . . . . . . . . . . . . . 0.209 0.197 T 0.0 0.026 B 0.0 0.063 B 0.752 0.097 N 1 0.090 P 1.185 0.302 L 3.06 0.087 T -1.15 0.340 N 0.026 0.137 -1.054 0.133 T 0.000 0.000 T . . . 1.098 0.200 11.21 0.989 0.487 0.698 0.341 D c -0.537 -0.434 0.997 0.352 0.706 0.609 0 2.84 0.321 1.004 0.292 1.048 0.713 0.723 0.286 0.967 0.454 5.266 0.148 . ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000145390.7 Adipose_Subcutaneous|Artery_Coronary|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid|Whole_Blood 0.8268 0.6950 0.9026 0.8927 0.8942 0.7543 0.8181 0.8339 0.8331 0.7853 0.7055 0.8783 0.8841 0.9017 0.7584 0.8165 0.8112 hom 3869.67 124 4 120528327 . G A 3869.67 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8675;MQ=58.91;MQ0=0;QD=31.21;VQSLOD=9.5567;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,123:124:99:3869,322,0 4 121706201 121706201 A G exonic PRDM5 synonymous SNV PRDM5:NM_001300823:exon10:c.T1141C:p.L381L,PRDM5:NM_001300824:exon10:c.T1141C:p.L381L,PRDM5:NM_018699:exon11:c.T1234C:p.L412L 0.14 0.011 0.19 0.19 0.27 0.081 0.2115 0.0471 0.1631 0.2321 0.2278 0.2666 0.2230 0.1086 0.2 0.058 0.27 0.087 0.31 rs12499000 COSM149732 1(stomach);2(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign|Benign Corneal_fragility_keratoglobus\x2c_blue_sclerae_AND_joint_hypermobility|not_specified RCV000312661.1|RCV000428129.1 MedGen:OMIM:SNOMED_CT|MedGen C0268344:229200:31798004|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2166 0.0437 0.1674 0.3191 0.2303 0.2291 0.2702 0.2376 0.1085 0.2066 0.0556 0.1775 0.33 0.2366 0.2340 0.2830 0.2248 het 720.19 62 4 121706201 . A G 720.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.120;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.12;MQ0=0;MQRankSum=1.951;QD=11.62;ReadPosRankSum=0.275;VQSLOD=6.3234;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,30:62:99:750,0,746 4 121738049 121738049 T C exonic PRDM5 synonymous SNV PRDM5:NM_018699:exon6:c.A681G:p.L227L 0.28 0.21 0.39 0.36 0.32 0.15 0.2912 0.2116 0.3514 0.3917 0.2610 0.3082 0.3046 0.1888 0.28 0.21 0.32 0.25 0.38 rs343192 COSM3760359 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Corneal_fragility_keratoglobus\x2c_blue_sclerae_AND_joint_hypermobility|not_specified RCV000377607.1|RCV000436179.1 MedGen:OMIM:SNOMED_CT|MedGen C0268344:229200:31798004|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2987 0.2096 0.3465 0.4072 0.3835 0.2636 0.3102 0.3211 0.1885 0.2876 0.2167 0.3520 0.4106 0.3756 0.2616 0.3198 0.2806 het 4108.79 225 4 121738049 . T C 4108.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.895;DP=225;DS;Dels=0.00;FS=4.411;HRun=0;HaplotypeScore=12.2623;MQ=59.01;MQ0=0;MQRankSum=0.149;QD=18.26;ReadPosRankSum=-0.139;VQSLOD=2.8166;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,125:225:99:3548,0,2593 4 121957559 121957559 G A exonic NDNF synonymous SNV NDNF:NM_024574:exon4:c.C1567T:p.L523L 0.25 0.18 0.34 0.24 0.21 0.33 0.2477 0.1843 0.3861 0.2338 0.2050 0.2182 0.2467 0.3346 0.2 0.19 0.21 0.22 0.16 rs34766411 COSM4002923 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2525 0.1807 0.3739 0.2524 0.2313 0.2064 0.2156 0.2539 0.3347 0.2069 0.1848 0.3604 0.21 0.2519 0.2024 0.2054 0.2367 het 1438.95 92 4 121957559 . G A 1438.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.028;DP=92;Dels=0.00;FS=0.797;HRun=1;HaplotypeScore=0.9979;MQ=59.29;MQ0=0;MQRankSum=-0.284;QD=15.64;ReadPosRankSum=1.419;VQSLOD=6.2218;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,52:92:99:1469,0,1056 4 121957734 121957734 T C exonic NDNF synonymous SNV NDNF:NM_024574:exon4:c.A1392G:p.S464S 0.82 0.61 0.88 0.97 0.87 0.86 0.8669 0.6723 0.9242 0.9732 0.9164 0.8676 0.8623 0.8712 0.8 0.68 0.87 0.8 0.86 rs1397645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8729 0.6704 0.9219 0.8076 0.9703 0.9159 0.8692 0.8595 0.8709 0.8316 0.6771 0.8986 0.8311 0.9739 0.9224 0.8769 0.8969 hom 7959.23 246 4 121957734 . T C 7959.23 Mask AC=2;AF=1.00;AN=2;DP=246;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3225;MQ=58.69;MQ0=0;QD=32.35;VQSLOD=8.6473;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,244:246:99:7958,641,0 4 121958091 121958091 T G exonic NDNF synonymous SNV NDNF:NM_024574:exon4:c.A1035C:p.L345L 0.43 0.09 0.47 0.65 0.61 0.45 0.5472 0.1641 0.4953 0.6525 0.6538 0.6126 0.5498 0.4593 0.47 0.18 0.62 0.4 0.64 rs3733558 COSM1131290 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5531 0.1599 0.5030 0.5160 0.6530 0.6487 0.6175 0.5470 0.4577 0.4982 0.1743 0.4856 0.5867 0.6330 0.6581 0.6277 0.5943 het 2343.68 168 4 121958091 . T G 2343.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.170;DP=168;Dels=0.00;FS=2.737;HRun=0;HaplotypeScore=1.8888;MQ=58.86;MQ0=0;MQRankSum=1.141;QD=13.95;ReadPosRankSum=-1.007;VQSLOD=6.2133;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,83:168:99:2374,0,2395 4 121958187 121958187 A G exonic NDNF synonymous SNV NDNF:NM_024574:exon4:c.T939C:p.D313D 0.43 0.076 0.47 0.65 0.61 0.45 0.5454 0.1497 0.4935 0.6535 0.6467 0.6126 0.5497 0.4585 0.47 0.17 0.62 0.4 0.63 rs3822230 COSM1131289 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5514 0.1449 0.5016 0.5166 0.6531 0.6431 0.6174 0.5462 0.4572 0.4938 0.1594 0.4844 0.59 0.6342 0.6562 0.6273 0.5937 het 2626.18 208 4 121958187 . A G 2626.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.410;DP=208;Dels=0.00;FS=1.083;HRun=0;HaplotypeScore=6.7704;MQ=58.80;MQ0=0;MQRankSum=0.253;QD=12.63;ReadPosRankSum=-1.958;VQSLOD=4.4840;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,103:208:99:2656,0,2730 4 121958691 121958691 T C exonic NDNF synonymous SNV NDNF:NM_024574:exon4:c.A435G:p.L145L 0.23 0.1 0.34 0.24 0.2 0.33 0.2421 0.1176 0.3830 0.2342 0.2049 0.2177 0.2456 0.3344 0.18 0.11 0.21 0.16 0.16 rs3733559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2477 0.1152 0.3699 0.2512 0.2314 0.2063 0.2155 0.2490 0.3345 0.1867 0.1150 0.3621 0.2119 0.2546 0.2023 0.2046 0.2255 het 2330.51 159 4 121958691 . T C 2330.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.529;DP=159;Dels=0.00;FS=1.350;HRun=0;HaplotypeScore=6.6795;MQ=59.06;MQ0=0;MQRankSum=-0.557;QD=14.66;ReadPosRankSum=-0.271;VQSLOD=4.0260;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,83:159:99:2361,0,2028 4 121958697 121958697 G A exonic NDNF synonymous SNV NDNF:NM_024574:exon4:c.C429T:p.S143S 0.4 0.076 0.44 0.6 0.57 0.43 0.5152 0.1457 0.4588 0.5879 0.6143 0.5796 0.52 0.4363 0.45 0.16 0.59 0.4 0.61 rs3733560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5197 0.1407 0.4689 0.4759 0.5892 0.6102 0.5857 0.5111 0.4355 0.4655 0.1537 0.4498 0.54 0.5698 0.6201 0.5928 0.5540 het 2099.68 163 4 121958697 . G A 2099.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.192;DP=163;Dels=0.00;FS=0.629;HRun=0;HaplotypeScore=7.1585;MQ=59.23;MQ0=0;MQRankSum=0.184;QD=12.88;ReadPosRankSum=0.417;VQSLOD=4.9622;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,77:163:99:2130,0,2338 4 121966807 121966807 C T exonic NDNF synonymous SNV NDNF:NM_024574:exon2:c.G186A:p.K62K 0.66 0.2 0.81 0.88 0.82 0.78 0.7904 0.2904 0.8758 0.8848 0.8515 0.8301 0.7991 0.7925 0.67 0.31 0.83 0.56 0.68 rs2276959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8004 0.2829 0.8723 0.7684 0.8840 0.8493 0.8325 0.7962 0.7915 0.6878 0.2992 0.8449 0.8013 0.8894 0.8589 0.8326 0.8204 hom 1678.59 56 4 121966807 . C T 1678.59 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=29.97;VQSLOD=8.6297;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1712,129,0 4 122683007 122683007 G A exonic TMEM155 nonsynonymous SNV TMEM155:NM_001317837:exon4:c.C32T:p.A11V,TMEM155:NM_001317838:exon4:c.C32T:p.A11V,TMEM155:NM_001317839:exon4:c.C32T:p.A11V,TMEM155:NM_152399:exon4:c.C32T:p.A11V 0.89 0.93 0.89 0.88 0.83 0.89 0.8685 0.9220 0.9189 0.8788 0.8627 0.8447 0.8722 0.8922 0.87 0.92 0.85 0.85 0.89 rs4370153 COSM4965427 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.008 0.012 N 1 0.090 P -0.55 0.024 N 0.54 0.573 T 3.32 0.001 N 0.429 0.485 -0.906 0.474 T 0.000 0.000 T . . . -0.578 0.051 0.142 0.544 0.050 0.011 0.041 N c -1.394 -1.403 0.997 0.353 0.516 0.203 0 -3.35 0.046 -0.190 0.095 0.244 0.267 0.000 0.063 0.036 0.153 2.881 0.053 . ENSG00000164112.8 Heart_Left_Ventricle 0.8702 0.9253 0.9190 0.8726 0.8800 0.8552 0.8444 0.8657 0.8896 0.8814 0.9233 0.9057 0.8874 0.8870 0.8674 0.8583 0.8788 hom 2810.44 99 4 122683007 . G A 2810.44 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=28.39;VQSLOD=8.8362;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2843,223,0 4 122742217 122742217 T C exonic CCNA2 nonsynonymous SNV CCNA2:NM_001237:exon3:c.A487G:p.I163V 0.97 0.99 0.98 0.95 0.95 0.97 0.9629 0.9898 0.9815 0.9411 0.9425 0.9578 0.9758 0.9727 0.97 0.99 0.96 0.95 1. rs769242 COSM5425608 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.192 0.168 N 1 0.090 P -2.175 0.001 N 2.65 0.127 T 0.42 0.034 N 0.042 0.022 -0.995 0.313 T 0.000 0.000 T . . . 0.665 0.157 8.596 0.899 0.186 0.218 0.213 N c -0.832 -0.577 1.000 0.517 0.757 0.989 0 4.14 0.477 0.842 0.271 0.040 0.155 0.888 0.309 0.999 0.750 8.623 0.329 Cyclin-A\x2c N-terminal . . 0.9625 0.9909 0.9800 0.9739 0.9399 0.9387 0.9575 0.9710 0.9719 0.9672 0.9913 0.9760 0.9901 0.9382 0.9453 0.9605 0.9664 hom 6226.59 212 4 122742217 . T C 6226.59 Mask AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4572;MQ=58.23;MQ0=1;QD=29.37;VQSLOD=7.2202;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6226,463,0 4 123150286 123150286 T C exonic KIAA1109 nonsynonymous SNV KIAA1109:NM_015312:exon23:c.T2933C:p.I978T 0.035 0.029 0.068 . 0.084 0.0051 0.0593 0.0348 0.0572 0.0021 0.0239 0.0853 0.0670 0.0136 0.075 0.04 0.091 0.033 0.09 rs6848868 . . . . . . . . . . . . . 0.187 0.334 T 0.005 0.119 B 0.01 0.139 B 0.364 0.043 N 0.695 0.316 P 0.69 0.170 N 0.79 0.491 T -0.25 0.465 N 0.182 0.222 -1.080 0.073 T 0.004 0.014 T . . . 1.685 0.264 14.32 0.944 0.243 0.984 0.820 D c -0.161 0.067 0.362 0.198 0.732 0.924 0 5.33 0.756 5.558 0.668 1.061 0.807 1.000 0.715 1.000 0.888 8.009 0.293 . . . 0.0596 0.0341 0.0571 0.1446 0.0003 0.0228 0.0838 0.0833 0.0132 0.0506 0.0330 0.0609 0.1291 0 0.0198 0.0720 0.0399 het 2986.44 194 4 123150286 . T C 2986.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.519;DP=194;Dels=0.00;FS=5.309;HRun=0;HaplotypeScore=1.9445;MQ=59.26;MQ0=0;MQRankSum=-0.612;QD=15.39;ReadPosRankSum=-1.853;VQSLOD=4.6755;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,115:194:99:3016,0,1950 4 123171659 123171659 T A exonic KIAA1109 nonsynonymous SNV KIAA1109:NM_015312:exon35:c.T5853A:p.D1951E 0.011 0.0023 0.023 . 0.029 0.0082 0.0235 0.0060 0.0118 0.0003 0.0534 0.0315 0.0456 0.0084 0.025 0.0066 0.033 0.011 . rs56363411 . . . . . . . . . . . . . 0.849 0.027 T 0.005 0.119 B 0.007 0.121 B 0.005 0.334 U 0.581 0.311 N 0.46 0.130 N 2.31 0.168 T -0.05 0.078 N 0.095 0.095 -0.999 0.302 T 0.032 0.139 T . . . 1.401 0.232 12.79 0.918 0.205 0.821 0.411 D c -0.096 -0.084 0.002 0.086 0.732 0.924 0 0.014 0.134 0.023 0.133 1.061 0.807 0.967 0.338 1.000 0.888 1.477 0.023 . . . 0.0248 0.0054 0.0130 0.0122 0.0004 0.0548 0.0338 0.0276 0.0097 0.0257 0.0060 0.0107 0.0166 0.0012 0.0498 0.0354 0.0237 het 992.36 84 4 123171659 . T A 992.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.439;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1515;MQ=59.11;MQ0=0;MQRankSum=0.018;QD=11.81;ReadPosRankSum=0.814;VQSLOD=5.8017;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,41:84:99:1022,0,1053 4 123207867 123207867 T G exonic KIAA1109 nonsynonymous SNV KIAA1109:NM_015312:exon51:c.T9209G:p.V3070G 0.0002 . . . . 0.001 0.0014 0.0009 0.0003 0.0001 0.0018 0.0020 0.0022 0.0008 0.001 0.0008 0.0011 . . rs79067453 . . . . . . . . . . . . . 0.337 0.128 T 0.0 0.026 B 0.001 0.040 B 0.004 0.341 N 1.000 0.548 D -0.14 0.045 N 2.55 0.138 T -0.03 0.075 N 0.269 0.510 -1.032 0.199 T 0.026 0.113 T 0.004 0.084 T 1.725 0.268 14.55 0.980 0.367 0.862 0.451 D c -0.260 -0.004 0.975 0.295 0.707 0.730 0 5.48 0.806 3.827 0.552 1.061 0.807 1.000 0.715 1.000 0.888 15.571 0.760 . . . 0.0013 0.0007 0.0005 0.0001 0 0.0013 0.0021 0.0013 0.0008 0.0013 0.0003 0.0012 0 0 0.0011 0.002 0.0010 het 1853.21 130 4 123207867 . T G 1853.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.955;DP=130;Dels=0.00;FS=0.701;HRun=2;HaplotypeScore=1.9861;MQ=59.21;MQ0=0;MQRankSum=0.530;QD=14.26;ReadPosRankSum=-1.623;VQSLOD=5.5426;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,73:130:99:1883,0,1504 4 123280860 123280860 T C exonic KIAA1109 synonymous SNV KIAA1109:NM_015312:exon83:c.T14784C:p.H4928H 0.12 0.0068 0.13 0.12 0.24 0.15 0.1913 0.0351 0.0907 0.1388 0.3579 0.2328 0.2020 0.1469 0.16 0.038 0.22 0.087 0.18 rs1127348 COSM1426709 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1927 0.0325 0.0978 0.1855 0.1364 0.3635 0.2319 0.2007 0.1439 0.1886 0.0419 0.1280 0.1667 0.1253 0.3610 0.2401 0.2541 het 1083.78 101 4 123280860 . T C 1083.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.483;DP=101;Dels=0.00;FS=0.756;HRun=1;HaplotypeScore=2.6487;MQ=58.33;MQ0=0;MQRankSum=0.263;QD=10.73;ReadPosRankSum=0.065;VQSLOD=6.0362;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,45:101:99:1114,0,1413 4 123377482 123377482 C A exonic IL2 synonymous SNV IL2:NM_000586:exon1:c.G114T:p.L38L 0.3 0.077 0.44 0.46 0.34 0.29 0.3461 0.1184 0.5114 0.4727 0.4736 0.3416 0.3296 0.2783 0.26 0.13 0.32 0.29 0.2 rs2069763 COSM5432718 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3569 0.1104 0.5015 0.2189 0.4754 0.4749 0.3423 0.3412 0.2710 0.3068 0.1142 0.4159 0.2086 0.4793 0.4733 0.3533 0.3776 het 236.53 32 4 123377482 . C A 236.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.082;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.55;MQ0=0;MQRankSum=1.109;QD=7.39;ReadPosRankSum=1.265;VQSLOD=5.5161;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,12:32:99:267,0,559 4 123536963 123536963 G A exonic IL21 synonymous SNV IL21:NM_001207006:exon3:c.C234T:p.C78C,IL21:NM_021803:exon3:c.C234T:p.C78C 0.84 0.95 0.82 0.89 0.66 0.84 0.7434 0.9255 0.8643 0.8831 0.5546 0.6715 0.7059 0.8385 0.77 0.92 0.69 0.87 0.72 rs4833837 COSM4407011 1(liver) Benign not_specified RCV000454435.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7428 0.9292 0.8580 0.7372 0.8869 0.5502 0.6734 0.7153 0.8414 0.7450 0.9218 0.8174 0.7848 0.8926 0.5613 0.6693 0.6653 het 1302.87 120 4 123536963 . G A 1302.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.875;DP=120;Dels=0.00;FS=1.504;HRun=3;HaplotypeScore=0.9958;MQ=59.25;MQ0=0;MQRankSum=-0.264;QD=10.86;ReadPosRankSum=-0.243;VQSLOD=6.7791;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,53:120:99:1333,0,1734 4 123838758 123838758 A G exonic NUDT6 nonsynonymous SNV NUDT6:NM_007083:exon2:c.T340C:p.C114R 0.61 0.2 0.64 0.94 0.74 0.65 0.6978 0.2748 0.6778 0.9502 0.7962 0.7286 0.7344 0.6656 0.61 0.33 0.74 0.49 0.72 rs12648093 COSM1131278 2(pancreas);1(prostate) . . . . . . . . . . . 0.518 0.073 T 0.0 0.026 B 0.001 0.040 B 0.336 0.042 N 0.590 0.310 P 0.905 0.233 L 1.44 0.327 T 0.84 0.018 N 0.06 0.044 -1.023 0.227 T 0.000 0.000 T . . . -1.854 0.010 0.002 0.237 0.010 0.033 0.082 N c -1.735 -1.792 1.000 0.747 0.706 0.609 0 -7.93 0.010 -0.918 0.041 -0.138 0.110 0.000 0.063 0.821 0.343 2.820 0.051 NUDIX hydrolase domain-like . . 0.7069 0.2695 0.6896 0.6706 0.9510 0.7905 0.7337 0.6915 0.6631 0.6296 0.2777 0.6766 0.6126 0.9574 0.7901 0.7516 0.7423 hom 4513.82 138 4 123838758 . A G 4513.82 Mask AC=2;AF=1.00;AN=2;DP=138;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.23;MQ0=0;QD=32.71;VQSLOD=9.9950;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4513,364,0 4 123843716 123843716 T C exonic NUDT6 synonymous SNV NUDT6:NM_007083:exon1:c.A12G:p.P4P 0.74 0.34 0.77 0.95 0.89 0.9 0.8534 0.4129 0.7994 0.9574 0.9031 0.8891 0.8817 0.8951 0.76 0.45 0.9 0.61 0.71 rs13134412 COSM1753522 2(urinary_tract);1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8545 0.4021 0.8111 0.8552 0.9599 0.9031 0.8926 0.8580 0.8939 0.7609 0.4070 0.8010 0.8113 0.9617 0.9052 0.9001 0.8765 hom 1098.48 39 4 123843716 . T C 1098.48 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;QD=28.17;VQSLOD=8.3893;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:93.25:1131,93,0 4 123949556 123949556 G A exonic SPATA5 synonymous SNV SPATA5:NM_001317799:exon11:c.G2082A:p.G694G 0.88 0.76 0.84 0.95 0.95 0.92 0.9167 0.7906 0.8384 0.9620 0.9270 0.9445 0.9185 0.9105 0.9 0.79 0.95 0.87 0.89 rs1472949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9173 0.7886 0.8502 0.9150 0.9627 0.9267 0.9485 0.9112 0.9110 0.8994 0.7917 0.8493 0.9040 0.9642 0.9334 0.9481 0.9236 hom 1769.26 59 4 123949556 . G A 1769.26 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.99;VQSLOD=13.8345;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1802,144,0 4 125590478 125590478 T C exonic ANKRD50 synonymous SNV ANKRD50:NM_001167882:exon3:c.A3417G:p.P1139P,ANKRD50:NM_020337:exon4:c.A3954G:p.P1318P 0.21 0.23 0.18 0.24 0.16 0.24 0.1849 0.2210 0.1875 0.2398 0.2297 0.1566 0.1762 0.2288 0.17 0.22 0.15 0.16 0.12 rs1874748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1843 0.2194 0.1894 0.0928 0.2406 0.2325 0.1569 0.1564 0.2282 0.1882 0.2170 0.1842 0.0861 0.2162 0.2175 0.1642 0.1837 het 1896.23 173 4 125590478 . T C 1896.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.114;DP=173;Dels=0.00;FS=4.604;HRun=0;HaplotypeScore=10.2124;MQ=58.49;MQ0=0;MQRankSum=1.320;QD=10.96;ReadPosRankSum=2.057;VQSLOD=3.4084;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:93,80:173:99:1926,0,2309 4 125591423 125591423 A T exonic ANKRD50 synonymous SNV ANKRD50:NM_001167882:exon3:c.T2472A:p.A824A,ANKRD50:NM_020337:exon4:c.T3009A:p.A1003A 0.044 0.02 0.036 0.013 0.092 0.062 0.0613 0.0265 0.0301 0.0062 0.0952 0.0765 0.0540 0.0595 0.061 0.029 0.077 0.022 0.098 rs3822116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0609 0.0263 0.0346 0.0579 0.0057 0.0936 0.0768 0.0559 0.0584 0.0604 0.0267 0.0358 0.0563 0.0038 0.0876 0.0806 0.0703 het 2136.67 128 4 125591423 . A T 2136.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.963;DP=128;Dels=0.00;FS=5.664;HRun=0;HaplotypeScore=1.9929;MQ=59.46;MQ0=0;MQRankSum=-0.948;QD=16.69;ReadPosRankSum=2.037;VQSLOD=4.5553;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,75:128:99:2167,0,1514 4 125591687 125591687 A G exonic ANKRD50 synonymous SNV ANKRD50:NM_001167882:exon3:c.T2208C:p.N736N,ANKRD50:NM_020337:exon4:c.T2745C:p.N915N 0.29 0.39 0.22 0.26 0.21 0.29 0.2499 0.3690 0.2154 0.2685 0.2875 0.2232 0.2280 0.2830 0.26 0.36 0.21 0.26 0.18 rs3733471 COSM4158783 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2451 0.3675 0.2199 0.2019 0.2696 0.2848 0.2182 0.2218 0.2849 0.2641 0.3618 0.2254 0.2053 0.2443 0.2643 0.2137 0.2495 het 1250.07 112 4 125591687 . A G 1250.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.645;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=58.92;MQ0=0;MQRankSum=0.157;QD=11.16;ReadPosRankSum=-0.317;VQSLOD=6.6903;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,50:112:99:1280,0,1565 4 125592065 125592065 C A exonic ANKRD50 synonymous SNV ANKRD50:NM_001167882:exon3:c.G1830T:p.A610A,ANKRD50:NM_020337:exon4:c.G2367T:p.A789A 0.29 0.39 0.22 0.26 0.21 0.29 0.2495 0.3689 0.2149 0.2681 0.2877 0.2228 0.2280 0.2829 0.26 0.36 0.21 0.25 0.18 rs10018651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2449 0.3675 0.2202 0.2019 0.2698 0.2845 0.2177 0.2217 0.2849 0.2629 0.3626 0.2267 0.2053 0.2439 0.2639 0.2111 0.2485 het 1319.63 110 4 125592065 . C A 1319.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.692;DP=110;Dels=0.00;FS=1.605;HRun=1;HaplotypeScore=1.6553;MQ=59.79;MQ0=0;MQRankSum=-0.161;QD=12.00;ReadPosRankSum=0.119;VQSLOD=6.7929;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,51:110:99:1350,0,1611 4 126237971 126237971 C T exonic FAT4 synonymous SNV FAT4:NM_001291285:exon1:c.C405T:p.F135F,FAT4:NM_001291303:exon1:c.C405T:p.F135F,FAT4:NM_024582:exon1:c.C405T:p.F135F 0.13 0.07 0.14 0.098 0.22 0.15 0.1872 0.0884 0.1220 0.1182 0.2388 0.2212 0.2120 0.1679 0.17 0.087 0.22 0.11 0.25 rs72928772 COSM3760366;COSM3760367 2(large_intestine) Benign not_specified RCV000434582.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1855 0.0853 0.1233 0.2120 0.1172 0.2282 0.2229 0.1897 0.1663 0.1825 0.0882 0.1507 0.2219 0.1215 0.2390 0.2314 0.1892 het 811 51 4 126237971 . C T 811 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.732;DP=51;Dels=0.00;FS=5.913;HRun=4;HaplotypeScore=6.6128;MQ=59.14;MQ0=0;MQRankSum=0.994;QD=15.90;ReadPosRankSum=1.543;VQSLOD=3.5285;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,28:51:99:841,0,657 4 126238924 126238924 A T exonic FAT4 nonsynonymous SNV FAT4:NM_001291285:exon1:c.A1358T:p.Q453L,FAT4:NM_001291303:exon1:c.A1358T:p.Q453L,FAT4:NM_024582:exon1:c.A1358T:p.Q453L 0.43 0.61 0.41 0.24 0.42 0.38 0.4234 0.5721 0.3802 0.2497 0.3868 0.4415 0.4007 0.3989 0.47 0.55 0.43 0.37 0.53 rs6847454 COSM3760369;COSM3760368 1(oesophagus);2(large_intestine) Benign not_specified RCV000443191.1 MedGen CN169374 . . . . . . 0.33 0.131 T 0.002 0.090 B 0.009 0.133 B 0.980 0.078 U 1.000 0.090 P 0.28 0.100 N 0.61 0.535 T -0.31 0.121 N 0.069 0.058 -0.928 0.444 T 0.000 0.000 T . . . -0.880 0.037 0.029 0.824 0.137 0.269 0.229 N c -1.150 -1.167 1.000 0.747 0.598 0.340 0 -2.64 0.057 0.151 0.160 -0.614 0.043 0.051 0.212 0.004 0.083 7.174 0.248 Cadherin|Cadherin-like . . 0.4147 0.5730 0.3773 0.3667 0.2451 0.3861 0.4433 0.4043 0.4064 0.4610 0.5632 0.4141 0.3411 0.2528 0.4023 0.4462 0.4094 hom 2301.44 71 4 126238924 . A T 2301.44 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.28;MQ0=0;QD=32.41;VQSLOD=8.8055;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2334,187,0 4 126239986 126239986 C T exonic FAT4 nonsynonymous SNV FAT4:NM_001291285:exon1:c.C2420T:p.A807V,FAT4:NM_001291303:exon1:c.C2420T:p.A807V,FAT4:NM_024582:exon1:c.C2420T:p.A807V 0.42 0.61 0.41 0.23 0.42 0.39 0.4222 0.5710 0.3802 0.2359 0.3865 0.4412 0.3978 0.3995 0.46 0.54 0.43 0.37 0.55 rs1039808 COSM3760371;COSM3760370 2(haematopoietic_and_lymphoid_tissue);1(oesophagus);2(large_intestine) Benign not_specified RCV000433556.1 MedGen CN169374 . . . . . . 0.202 0.202 T 0.575 0.368 P 0.253 0.374 B 0.004 0.340 U 0.042 0.380 P 0.84 0.212 L 4.63 0.019 T -1.64 0.393 N 0.09 0.088 -1.062 0.113 T 0.000 0.000 T . . . 4.056 0.545 23.7 0.998 0.923 0.888 0.486 D c 0.154 0.234 1.000 0.747 0.543 0.218 0 5.13 0.696 3.678 0.541 0.935 0.490 0.998 0.411 0.975 0.474 18.603 0.912 Cadherin|Cadherin-like . . 0.4137 0.5729 0.3772 0.3666 0.2299 0.3865 0.4432 0.4039 0.4070 0.4613 0.5648 0.4151 0.3411 0.2441 0.4030 0.4467 0.4092 hom 6580.33 215 4 126239986 . C T 6580.33 Mask AC=2;AF=1.00;AN=2;DP=215;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9924;MQ=59.14;MQ0=0;QD=30.61;VQSLOD=3.8768;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,213:215:99:6546,536,0 4 126240510 126240510 T C exonic FAT4 synonymous SNV FAT4:NM_001291285:exon1:c.T2944C:p.L982L,FAT4:NM_001291303:exon1:c.T2944C:p.L982L,FAT4:NM_024582:exon1:c.T2944C:p.L982L 0.72 0.93 0.73 0.46 0.71 0.72 0.7012 0.8861 0.7017 0.4739 0.5746 0.7040 0.68 0.7494 0.77 0.89 0.71 0.7 0.75 rs2940779 COSM5008351;COSM5008350 1(breast);2(large_intestine) Benign not_specified RCV000443502.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6944 0.8909 0.6993 0.7315 0.4693 0.5769 0.7051 0.6857 0.7523 0.7296 0.8901 0.7243 0.7285 0.4728 0.5910 0.7007 0.6646 hom 5074.70 156 4 126240510 . T C 5074.70 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=32.53;VQSLOD=9.2789;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:5074,391,0 4 126241871 126241871 C T exonic FAT4 synonymous SNV FAT4:NM_001291285:exon1:c.C4305T:p.I1435I,FAT4:NM_001291303:exon1:c.C4305T:p.I1435I,FAT4:NM_024582:exon1:c.C4305T:p.I1435I 0.71 0.9 0.73 0.45 0.71 0.72 0.6974 0.8591 0.7000 0.4581 0.5746 0.7039 0.6778 0.7486 0.75 0.86 0.71 0.65 0.75 rs2710555 COSM5008352;COSM5008353 2(large_intestine) Benign not_specified RCV000417585.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6909 0.8624 0.6976 0.7313 0.4540 0.5762 0.7051 0.6841 0.7515 0.7203 0.8596 0.7196 0.7285 0.4617 0.5917 0.7007 0.6612 hom 4730.54 144 4 126241871 . C T 4730.54 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2272;MQ=59.03;MQ0=0;QD=32.85;VQSLOD=9.0375;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4730,376,0 4 126329789 126329789 T C exonic FAT4 synonymous SNV FAT4:NM_001291285:exon4:c.T5760C:p.D1920D,FAT4:NM_001291303:exon4:c.T5760C:p.D1920D,FAT4:NM_024582:exon4:c.T5760C:p.D1920D 0.99 0.96 0.99 1. 1. 1. 0.9966 0.9721 0.9966 0.9999 1 0.9988 0.9945 0.9999 0.99 0.97 1. 0.99 0.95 rs958415 COSM1131273;COSM1131272 1(prostate) Benign not_specified RCV000436313.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9967 0.9702 0.9950 0.9979 0.9999 1 0.9989 0.9947 0.9999 0.9917 0.9728 0.9952 1 1 1 0.9991 0.9959 hom 3490.81 107 4 126329789 . T C 3490.81 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3832;MQ=59.43;MQ0=0;QD=32.62;VQSLOD=9.1569;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:107:99:3490,283,0 4 126369872 126369872 G C exonic FAT4 synonymous SNV FAT4:NM_001291285:exon9:c.G7707C:p.V2569V,FAT4:NM_001291303:exon9:c.G7707C:p.V2569V,FAT4:NM_024582:exon9:c.G7701C:p.V2567V 0.99 0.97 1. 1. 1. 1. 0.9978 0.9755 0.9992 1 1 1.0000 0.9978 1 0.99 0.98 1. 0.99 1. rs988863 . . Benign not_specified RCV000442698.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9744 0.9991 1 1 1 1.0000 0.9993 1 0.9932 0.9763 0.9976 1 1 1 1 0.9980 hom 1665.79 52 4 126369872 . G C 1665.79 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.37;MQ0=0;QD=32.03;VQSLOD=7.9015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1699,132,0 4 126372742 126372742 G A exonic FAT4 nonsynonymous SNV FAT4:NM_001291285:exon9:c.G10577A:p.G3526D,FAT4:NM_001291303:exon9:c.G10577A:p.G3526D,FAT4:NM_024582:exon9:c.G10571A:p.G3524D 0.23 0.024 0.25 0.39 0.3 0.26 0.2673 0.0608 0.2477 0.4193 0.2418 0.2792 0.2907 0.2927 0.22 0.066 0.3 0.15 0.26 rs1567047 COSM4415581;COSM4415580 1(haematopoietic_and_lymphoid_tissue);3(large_intestine) Benign not_specified RCV000427798.1 MedGen CN169374 . . . . . . 0.013 0.538 D 1.0 0.899 D 1.0 0.971 D 0.005 0.335 U 0.000 0.588 P 2.8 0.819 M 0.59 0.540 T -4.59 0.789 D 0.389 0.449 -1.086 0.062 T 0.000 0.000 T . . . 5.933 0.814 27.6 0.997 0.834 0.992 0.931 D c 0.893 0.865 1.000 0.747 0.707 0.730 0 5.77 0.910 9.799 0.982 1.048 0.713 1.000 0.715 0.424 0.258 19.998 0.974 Cadherin|Cadherin-like . . 0.2714 0.0586 0.2451 0.2673 0.4217 0.2425 0.2864 0.2599 0.2912 0.2253 0.0634 0.2752 0.2567 0.4149 0.2572 0.2882 0.2290 het 2171.42 169 4 126372742 . G A 2171.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.653;DP=169;Dels=0.00;FS=4.513;HRun=0;HaplotypeScore=5.0679;MQ=58.33;MQ0=0;MQRankSum=1.819;QD=12.85;ReadPosRankSum=-0.366;VQSLOD=4.7505;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,83:169:99:2201,0,2349 4 126373789 126373789 G A exonic FAT4 nonsynonymous SNV FAT4:NM_001291285:exon9:c.G11624A:p.S3875N,FAT4:NM_001291303:exon9:c.G11624A:p.S3875N,FAT4:NM_024582:exon9:c.G11618A:p.S3873N 0.99 0.97 1. 1. 1. 1. 0.9978 0.9756 0.9991 1 1 0.9999 0.9978 1 0.99 0.98 1. 0.99 0.98 rs12650153 . . Benign not_specified RCV000417654.1 MedGen CN169374 . . . . . . 0.671 0.045 T 0.0 0.026 B 0.0 0.013 B 0.003 0.363 N 1.000 0.090 P -2.215 0.001 N -2.26 0.874 D 1.3 0.010 N 0.048 0.029 -0.924 0.450 T 0.000 0.000 T . . . 1.631 0.257 14.02 0.253 0.012 0.156 0.188 N c -0.879 -0.508 0.994 0.335 0.707 0.730 0 5.27 0.737 7.194 0.771 0.108 0.203 1.000 0.715 0.994 0.587 11.139 0.474 Cadherin|Cadherin-like;EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain . . 0.9982 0.9745 0.9990 1 1 1 0.9999 0.9993 1 0.9931 0.9760 0.9976 1 1 1 1 0.9980 hom 1705.02 52 4 126373789 . G A 1705.02 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=59.11;MQ0=0;QD=32.79;VQSLOD=9.7406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1738,141,0 4 126412575 126412575 A G exonic FAT4 synonymous SNV FAT4:NM_001291285:exon17:c.A14601G:p.R4867R,FAT4:NM_001291303:exon17:c.A14604G:p.R4868R,FAT4:NM_024582:exon17:c.A14598G:p.R4866R 0.74 0.65 0.72 0.85 0.76 0.74 0.7569 0.6970 0.7117 0.8726 0.8095 0.7586 0.7898 0.7354 0.74 0.71 0.76 0.69 0.77 rs1014866 . . Benign not_specified RCV000439258.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7578 0.6910 0.7159 0.7644 0.8760 0.7983 0.7596 0.7564 0.7326 0.7566 0.7063 0.7321 0.7567 0.8694 0.7915 0.7663 0.7673 het 1544.53 132 4 126412575 . A G 1544.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.243;DP=132;Dels=0.00;FS=2.313;HRun=1;HaplotypeScore=4.8823;MQ=58.71;MQ0=0;MQRankSum=0.455;QD=11.70;ReadPosRankSum=0.459;VQSLOD=5.6011;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,60:132:99:1575,0,1942 4 126412891 126412891 C T exonic FAT4 nonsynonymous SNV FAT4:NM_001291285:exon17:c.C14917T:p.P4973S,FAT4:NM_001291303:exon17:c.C14920T:p.P4974S,FAT4:NM_024582:exon17:c.C14914T:p.P4972S 0.054 0.072 0.032 0.06 0.054 0.038 0.0543 0.0595 0.0352 0.0621 0.0345 0.0610 0.0541 0.0418 0.052 0.05 0.053 0.087 0.082 rs1014867 COSM4002932;COSM4002933 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000428726.1 MedGen CN169374 . . . . . . 0.348 0.124 T 0.001 0.067 B 0.002 0.063 B 0.330 0.141 U 1.000 0.205 P 0.11 0.085 N -0.69 0.742 T -1.18 0.301 N 0.052 0.034 -1.012 0.261 T 0.011 0.039 T . . . 0.215 0.115 4.834 0.673 0.081 0.324 0.243 N c -0.618 -0.513 0.000 0.068 0.707 0.730 0 2.84 0.321 0.697 0.251 -0.050 0.123 0.460 0.264 0.340 0.244 7.345 0.257 Cadherin|Cadherin-like . . 0.0486 0.0533 0.0342 0.0164 0.0547 0.0391 0.0583 0.0528 0.0399 0.0508 0.0488 0.0370 0.0066 0.0586 0.0412 0.0542 0.0622 het 616.02 52 4 126412891 . C T 616.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.172;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.55;MQ0=0;MQRankSum=0.604;QD=11.85;ReadPosRankSum=1.740;VQSLOD=6.0590;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,27:52:99:646,0,648 4 128565000 128565000 A G exonic INTU synonymous SNV INTU:NM_015693:exon2:c.A471G:p.R157R 0.62 0.67 0.58 0.55 0.54 0.72 0.5598 0.6407 0.5747 0.5270 0.4602 0.5230 0.5407 0.7050 0.56 0.64 0.53 0.52 0.57 rs3749507 COSM4002934;COSM4002935 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5561 0.6440 0.5847 0.5759 0.5355 0.4540 0.5181 0.5496 0.6995 0.5328 0.6403 0.5847 0.5497 0.5207 0.4665 0.4857 0.5041 het 1256.94 112 4 128565000 . A G 1256.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.248;DP=112;Dels=0.00;FS=1.536;HRun=1;HaplotypeScore=3.9817;MQ=58.67;MQ0=0;MQRankSum=-0.903;QD=11.22;ReadPosRankSum=0.169;VQSLOD=5.5841;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,53:112:99:1287,0,1497 4 128584580 128584580 G A exonic INTU synonymous SNV INTU:NM_015693:exon4:c.G813A:p.T271T 0.65 0.75 0.6 0.55 0.56 0.74 0.5881 0.7286 0.5976 0.5332 0.4639 0.5504 0.5751 0.7242 0.61 0.72 0.55 0.61 0.53 rs4833380 COSM4002937;COSM4002936 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5818 0.7348 0.6046 0.5891 0.5419 0.4562 0.5463 0.5896 0.7194 0.5761 0.7307 0.6190 0.5596 0.5282 0.4676 0.5175 0.5265 het 850.14 58 4 128584580 . G A 850.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.449;DP=58;Dels=0.00;FS=13.092;HRun=0;HaplotypeScore=1.7319;MQ=58.22;MQ0=0;MQRankSum=1.087;QD=14.66;ReadPosRankSum=-2.447;VQSLOD=2.7201;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,32:58:99:880,0,692 4 128689936 128689936 A G exonic SLC25A31 synonymous SNV SLC25A31:NM_001318467:exon5:c.A663G:p.P221P,SLC25A31:NM_031291:exon5:c.A663G:p.P221P 0.54 0.33 0.64 0.41 0.66 0.74 0.6171 0.3875 0.6040 0.3887 0.5793 0.6544 0.6504 0.7522 0.57 0.4 0.65 0.42 0.48 rs2305958 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6140 0.3776 0.6060 0.7132 0.3886 0.5756 0.6450 0.6442 0.7467 0.5434 0.4015 0.6136 0.6913 0.4046 0.5778 0.6228 0.5917 hom 2199.32 72 4 128689936 . A G 2199.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.684;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5364;MQ=59.68;MQ0=0;MQRankSum=0.818;QD=30.55;ReadPosRankSum=0.433;VQSLOD=8.8653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,71:72:99:2232,193,0 4 128723042 128723042 T C exonic HSPA4L nonsynonymous SNV HSPA4L:NM_001317383:exon5:c.T509C:p.L170S,HSPA4L:NM_001317382:exon6:c.T554C:p.L185S,HSPA4L:NM_014278:exon6:c.T632C:p.L211S,HSPA4L:NM_001317381:exon7:c.T725C:p.L242S 0.75 0.8 0.77 0.68 0.69 0.78 0.7048 0.7977 0.7743 0.6530 0.6378 0.6733 0.7185 0.7783 0.71 0.8 0.67 0.69 0.65 rs1380154 COSM4002940;COSM1131260 1(haematopoietic_and_lymphoid_tissue);2(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.198 P -3.675 0.000 N 6.73 0.005 T 3.84 0.001 N 0.113 0.211 -1.040 0.174 T 0.000 0.000 T . . . 1.084 0.198 11.13 0.599 0.062 0.038 0.090 N c -0.984 -0.630 0.998 0.366 0.615 0.372 0 3.97 0.451 4.396 0.592 0.066 0.173 1.000 0.715 0.988 0.529 9.682 0.391 . ENSG00000164070.7|ENSG00000261668.1|ENSG00000164066.8|ENSG00000164070.7 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Testis|Thyroid 0.7031 0.8005 0.7789 0.7203 0.6607 0.6358 0.6659 0.7151 0.7747 0.6893 0.7954 0.7578 0.6921 0.6466 0.6384 0.6423 0.6551 hom 2205.95 79 4 128723042 . T C 2205.95 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6427;MQ=57.42;MQ0=0;QD=27.92;VQSLOD=4.7116;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,78:79:99:2239,181,0 4 128807219 128807219 T A exonic PLK4 nonsynonymous SNV PLK4:NM_001190799:exon4:c.T598A:p.S200T,PLK4:NM_001190801:exon5:c.T571A:p.S191T,PLK4:NM_014264:exon5:c.T694A:p.S232T 0.74 0.8 0.77 0.67 0.68 0.77 0.7033 0.7958 0.7737 0.6526 0.6372 0.6722 0.7181 0.7734 0.71 0.8 0.67 0.69 0.68 rs3811740 COSM1426971 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.019 T 0.0 0.026 B 0.001 0.040 B 0.752 0.097 N 1 0.090 P 1.145 0.292 L 1.81 0.252 T 0.31 0.050 N 0.026 0.008 -1.004 0.288 T 0.000 0.000 T . . . -1.302 0.022 0.004 0.316 0.018 0.071 0.130 N c -1.414 -1.422 1.000 0.747 0.707 0.730 0 -6.6 0.016 -0.338 0.078 -1.057 0.020 0.000 0.063 0.976 0.476 12.440 0.548 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain ENSG00000164070.7|ENSG00000261668.1|ENSG00000164066.8|ENSG00000164070.7 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Testis|Thyroid 0.7027 0.7986 0.7792 0.7199 0.6607 0.6358 0.6656 0.7151 0.7708 0.6884 0.7930 0.7566 0.6921 0.6454 0.6385 0.6421 0.6531 hom 7277.38 235 4 128807219 . T A 7277.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.717;DP=235;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5522;MQ=59.92;MQ0=0;MQRankSum=-0.332;QD=30.97;ReadPosRankSum=-0.376;VQSLOD=7.1917;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,234:235:99:7276,575,0 4 128814964 128814964 G T exonic PLK4 nonsynonymous SNV PLK4:NM_001190799:exon12:c.G2394T:p.E798D,PLK4:NM_001190801:exon13:c.G2367T:p.E789D,PLK4:NM_014264:exon13:c.G2490T:p.E830D 0.74 0.8 0.77 0.67 0.68 0.77 0.7032 0.7962 0.7738 0.6525 0.6370 0.6721 0.7196 0.7731 0.71 0.8 0.67 0.69 0.68 rs17012739 COSM4002941 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.677 0.098 T 0.0 0.026 B 0.001 0.040 B 0.857 0.089 N 1 0.090 P -0.875 0.014 N -0.3 0.699 T 0.29 0.076 N 0.011 0.075 -1.091 0.053 T 0.000 0.000 T . . . -2.524 0.003 0.001 0.408 0.029 0.009 0.036 N c -2.604 -2.701 1.0 0.983 0.707 0.730 0 -8.44 0.008 -2.182 0.013 -4.706 0.000 0.000 0.063 0.000 0.016 4.425 0.108 . ENSG00000164070.7|ENSG00000261668.1|ENSG00000164066.8|ENSG00000164070.7 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Testis|Thyroid 0.7028 0.7993 0.7793 0.7198 0.6607 0.6359 0.6655 0.7152 0.7708 0.6891 0.7945 0.7566 0.6921 0.6452 0.6386 0.6428 0.6527 hom 5872.75 205 4 128814964 . G T 5872.75 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;QD=28.65;VQSLOD=8.2594;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:5872,460,0 4 129012638 129012638 A G exonic LARP1B synonymous SNV LARP1B:NM_001278604:exon7:c.A639G:p.A213A,LARP1B:NM_018078:exon7:c.A639G:p.A213A,LARP1B:NM_032239:exon7:c.A639G:p.A213A,LARP1B:NM_178043:exon7:c.A639G:p.A213A 0.64 0.57 0.72 0.53 0.68 0.76 0.6678 0.6152 0.7205 0.5007 0.6039 0.6714 0.6943 0.7610 0.65 0.63 0.67 0.6 0.68 rs1064205 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6675 0.6145 0.7251 0.7161 0.5053 0.6040 0.6661 0.6940 0.7597 0.6251 0.6159 0.7010 0.6722 0.5068 0.6103 0.6416 0.6235 het 1704.02 174 4 129012638 . A G 1704.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.406;DP=174;Dels=0.00;FS=3.529;HRun=0;HaplotypeScore=3.6133;MQ=58.67;MQ0=0;MQRankSum=-1.808;QD=9.79;ReadPosRankSum=0.964;VQSLOD=3.5041;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,73:174:99:1734,0,2654 4 129043204 129043204 C G exonic LARP1B nonsynonymous SNV LARP1B:NM_001350531:exon9:c.C662G:p.P221R,LARP1B:NM_018078:exon11:c.C1385G:p.P462R,LARP1B:NM_178043:exon11:c.C1385G:p.P462R 0.59 0.39 0.7 0.53 0.68 0.76 0.6529 0.4482 0.7149 0.5017 0.6044 0.6712 0.6905 0.7606 0.59 0.46 0.66 0.53 0.69 rs12508837 COSM5003867;COSM5003868 1(pancreas) . . . . . . . . . . . 0.004 0.654 D 1.0 0.899 D 0.999 0.971 D 0.000 0.629 D 0.015 0.810 P 2.66 0.781 M 1.9 0.327 T -4.13 0.772 D 0.506 0.550 -0.953 0.405 T 0.000 0.000 T . . . 3.549 0.484 23.1 0.995 0.705 0.924 0.553 D c 0.085 -0.024 0.006 0.112 0.651 0.465 0 2.54 0.295 1.631 0.365 -1.109 0.018 0.994 0.380 0.008 0.104 7.708 0.277 . . . 0.6570 0.4436 0.7188 0.7161 0.5060 0.6048 0.6662 0.6894 0.7602 0.5796 0.4554 0.6890 0.67 0.5068 0.6112 0.6418 0.6189 het 2326.94 171 4 129043204 . C G 2326.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.945;DP=171;Dels=0.00;FS=3.563;HRun=0;HaplotypeScore=0.7887;MQ=56.08;MQ0=0;MQRankSum=0.846;QD=13.61;ReadPosRankSum=-0.531;VQSLOD=2.5962;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,90:171:99:2357,0,2168 4 129043286 129043286 C T exonic LARP1B synonymous SNV LARP1B:NM_001350531:exon9:c.C744T:p.Y248Y,LARP1B:NM_018078:exon11:c.C1467T:p.Y489Y,LARP1B:NM_178043:exon11:c.C1467T:p.Y489Y 0.59 0.4 0.7 0.53 0.68 0.76 0.6531 0.4494 0.7150 0.5019 0.6042 0.6712 0.6905 0.7608 0.59 0.46 0.66 0.51 0.69 rs3733320 COSM4158793;COSM4158794 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6571 0.4448 0.7186 0.7163 0.5060 0.6049 0.6664 0.6895 0.7605 0.5800 0.4561 0.6878 0.6722 0.5093 0.6115 0.6418 0.6176 het 1935.48 177 4 129043286 . C T 1935.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.361;DP=177;Dels=0.00;FS=10.310;HRun=1;HaplotypeScore=3.7644;MQ=58.40;MQ0=0;MQRankSum=0.858;QD=10.93;ReadPosRankSum=-2.102;VQSLOD=3.7612;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,78:177:99:1965,0,2733 4 129100643 129100643 G A exonic LARP1B nonsynonymous SNV LARP1B:NM_001350531:exon12:c.G1139A:p.R380H,LARP1B:NM_018078:exon15:c.G1979A:p.R660H 0.57 0.33 0.68 0.52 0.68 0.76 0.6468 0.3897 0.7120 0.4932 0.6042 0.6711 0.6850 0.7606 0.58 0.41 0.66 0.52 0.68 rs12645577 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.982 0.249 P -3.125 0.000 N 2.21 0.184 T 6.7 0.000 N 0.059 0.231 -0.918 0.459 T 0.000 0.000 T . . . 0.741 0.165 9.090 0.070 0.000 0.115 0.165 N c -1.186 -0.906 0.501 0.209 0.615 0.372 0 4.16 0.480 5.055 0.639 0.126 0.213 1.000 0.715 0.276 0.233 9.609 0.386 . ENSG00000164070.7 Thyroid 0.6499 0.3810 0.7125 0.7163 0.4944 0.6048 0.6650 0.6833 0.7575 0.5616 0.3948 0.6758 0.6722 0.4988 0.6110 0.6415 0.6127 het 1477.38 132 4 129100643 . G A 1477.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.429;DP=132;Dels=0.00;FS=0.671;HRun=0;HaplotypeScore=6.0650;MQ=59.37;MQ0=0;MQRankSum=0.753;QD=11.19;ReadPosRankSum=0.501;VQSLOD=5.1221;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,57:132:99:1507,0,1827 4 129867280 129867280 T A exonic SCLT1 nonsynonymous SNV SCLT1:NM_144643:exon16:c.A1321T:p.S441C 0.76 0.96 0.76 0.7 0.67 0.64 0.6953 0.9216 0.7517 0.6882 0.6464 0.6577 0.71 0.6867 0.74 0.91 0.65 0.76 0.43 rs10028124 COSM5983423;COSM5983424 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.05 0.395 D 0.973 0.556 D 0.724 0.532 P 0.273 0.151 N 0.919 0.588 P 0.895 0.225 L 1.51 0.309 T -2.12 0.481 N 0.08 0.072 -1.020 0.237 T 0.000 0.000 T . . . 3.767 0.510 23.4 0.989 0.483 0.094 0.150 N c -0.140 -0.233 0.000 0.065 0.732 0.924 0 1.5 0.219 0.031 0.135 1.061 0.807 0.046 0.210 0.997 0.653 6.192 0.196 . ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts 0.6919 0.9255 0.7453 0.6750 0.6934 0.6439 0.6556 0.7026 0.6864 0.7283 0.9172 0.7673 0.6689 0.6904 0.6616 0.6398 0.6779 het 707.44 49 4 129867280 . T A 707.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.738;DP=49;Dels=0.00;FS=4.322;HRun=0;HaplotypeScore=4.4029;MQ=58.24;MQ0=0;MQRankSum=0.717;QD=14.44;ReadPosRankSum=0.515;VQSLOD=4.7296;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,28:49:99:737,0,512 4 129924977 129924977 C A exonic SCLT1 synonymous SNV SCLT1:NM_144643:exon6:c.G345T:p.L115L 0.54 0.22 0.61 0.64 0.64 0.71 0.6267 0.2827 0.5931 0.6308 0.6451 0.6681 0.6079 0.6904 0.54 0.3 0.67 0.53 0.77 rs3113487 COSM1131255;COSM1131256 3(haematopoietic_and_lymphoid_tissue);2(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6283 0.2703 0.5853 0.6717 0.6279 0.6479 0.6670 0.6104 0.6886 0.5624 0.2875 0.5647 0.69 0.6242 0.6386 0.6915 0.6258 hom 1823.11 54 4 129924977 . C A 1823.11 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.27;MQ0=0;QD=33.76;VQSLOD=9.3835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1856,150,0 4 130030652 130030652 A G exonic C4orf33 nonsynonymous SNV C4orf33:NM_001099783:exon5:c.A319G:p.M107V,C4orf33:NM_173487:exon5:c.A319G:p.M107V 0.7 0.39 0.73 0.74 0.81 0.92 0.7845 0.4449 0.7191 0.7635 0.8594 0.8191 0.7896 0.8849 0.7 0.47 0.82 0.62 0.82 rs337277 COSM1131254 1(haematopoietic_and_lymphoid_tissue);2(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.090 P -2.505 0.001 N 1.42 0.332 T 1.64 0.006 N 0.025 0.106 -0.962 0.388 T 0.000 0.000 T . . . -0.299 0.068 0.669 0.254 0.012 0.130 0.174 N c -0.899 -0.608 0.935 0.272 0.706 0.609 0 5.61 0.853 4.981 0.633 0.138 0.222 1.000 0.715 0.088 0.184 13.712 0.620 . ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Stomach|Testis|Thyroid|Whole_Blood 0.7891 0.4428 0.7212 0.8306 0.7594 0.8572 0.8183 0.7872 0.8845 0.7265 0.4609 0.7177 0.8456 0.7704 0.8565 0.8388 0.8051 hom 2553.05 85 4 130030652 . A G 2553.05 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.2434;MQ=58.57;MQ0=0;QD=30.04;VQSLOD=7.4726;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:85:99:2586,199,0 4 138449683 138449683 A G exonic PCDH18 synonymous SNV PCDH18:NM_001300828:exon3:c.T2686C:p.L896L,PCDH18:NM_019035:exon3:c.T2689C:p.L897L 0.57 0.9 0.45 0.51 0.42 0.44 0.4742 0.8256 0.4295 0.4993 0.4820 0.4284 0.4681 0.4531 0.55 0.8 0.42 0.67 0.43 rs10018837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4654 0.8315 0.4354 0.4228 0.5056 0.4801 0.4238 0.4493 0.4502 0.5486 0.8143 0.4474 0.4267 0.5175 0.4853 0.4271 0.4420 het 2893.52 249 4 138449683 . A G 2893.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.450;DP=249;DS;Dels=0.00;FS=0.530;HRun=0;HaplotypeScore=3.1104;MQ=58.61;MQ0=0;MQRankSum=4.370;QD=11.62;ReadPosRankSum=-0.511;VQSLOD=3.1541;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:134,114:249:99:2924,0,3648 4 139093119 139093119 A T exonic SLC7A11 nonsynonymous SNV SLC7A11:NM_014331:exon12:c.T1497A:p.D499E 0.001 . 0.0014 . 0.004 . 0.0017 0.0004 0.0004 0 0.0005 0.0029 0 0 0.0016 0.0002 0.0023 . . rs141122045 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.016 0.280 N 1.000 0.186 N -0.435 0.028 N -2.57 0.897 D 0.07 0.061 N 0.242 0.340 -0.826 0.536 T 0.298 0.670 T 0.016 0.379 T 0.466 0.139 7.168 0.794 0.123 0.328 0.245 N c -1.020 -0.905 0.702 0.227 0.707 0.730 0 0.296 0.149 -0.346 0.077 0.234 0.260 0.229 0.244 0.992 0.562 7.465 0.263 . . . 0.0014 0.0004 0.0002 0 0 0.0011 0.0025 0.0010 0 0.0020 0.0002 0 0 0 0.0014 0.0035 0.0031 het 912.30 94 4 139093119 . A T 912.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.114;DP=94;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=0.042;QD=9.71;ReadPosRankSum=1.943;VQSLOD=4.2820;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,42:94:99:942,0,1180 4 140005294 140005294 A G exonic ELF2 synonymous SNV ELF2:NM_001276457:exon1:c.T51C:p.I17I,ELF2:NM_001276458:exon1:c.T51C:p.I17I,ELF2:NM_001276459:exon1:c.T51C:p.I17I,ELF2:NM_006874:exon1:c.T51C:p.I17I 1. 1. 1. 1. 1. 1. 0.9999 0.9987 1 1 1 1.0000 1 1 1. 1. 1. 0.43 1. rs4863628 COSM4158811 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9984 1 1 1 1 1 1 1 0.9996 0.9987 1 1 1 1 1 1 hom 7582.63 250 4 140005294 . A G 7582.63 Mask AC=2;AF=1.00;AN=2;DP=250;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4261;MQ=59.10;MQ0=0;QD=30.33;VQSLOD=7.2604;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7559,584,0 4 141543997 141543997 G A exonic TBC1D9 synonymous SNV TBC1D9:NM_015130:exon21:c.C3153T:p.H1051H 0.82 0.93 0.83 0.63 0.81 0.88 0.8045 0.8994 0.8227 0.6801 0.8180 0.7852 0.7997 0.8695 0.8 0.89 0.76 0.79 . rs1560440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7919 0.8984 0.8112 0.8218 0.6575 0.7963 0.7681 0.7916 0.8654 0.8051 0.8968 0.8182 0.8377 0.6605 0.7974 0.7680 0.8004 het 306.69 26 4 141543997 . G A 306.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.363;DP=26;Dels=0.00;FS=3.442;HRun=0;HaplotypeScore=0.9987;MQ=59.28;MQ0=0;MQRankSum=0.077;QD=11.80;ReadPosRankSum=0.591;VQSLOD=6.6539;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,12:26:99:337,0,358 4 141590135 141590135 C T exonic TBC1D9 synonymous SNV TBC1D9:NM_015130:exon9:c.G1524A:p.T508T 0.018 0.0015 0.022 . 0.064 0.011 0.0447 0.0109 0.0171 0.0001 0.0908 0.0632 0.0481 0.0139 0.046 0.012 0.063 0.011 . rs61742550 COSM3760406;COSM3760405 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0443 0.0101 0.0186 0.0159 0.0003 0.0896 0.0658 0.0416 0.0128 0.0539 0.0103 0.0215 0.0132 0 0.0893 0.0799 0.0469 het 360.98 40 4 141590135 . C T 360.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.222;DP=40;Dels=0.00;FS=3.210;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.621;QD=9.02;ReadPosRankSum=0.870;VQSLOD=5.5969;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,16:40:99:391,0,705 4 143324094 143324094 G A exonic INPP4B synonymous SNV INPP4B:NM_001101669:exon7:c.C369T:p.D123D,INPP4B:NM_001331040:exon7:c.C369T:p.D123D,INPP4B:NM_003866:exon8:c.C369T:p.D123D 0.25 0.032 0.24 0.29 0.35 0.42 0.3155 0.0735 0.2008 0.2544 0.3626 0.3555 0.3491 0.3978 0.26 0.085 0.35 0.2 0.34 rs1982966 COSM4909329;COSM149743;COSM4158828 1(stomach);13(soft_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3167 0.0652 0.2074 0.3370 0.2555 0.3625 0.3592 0.3294 0.3991 0.2785 0.0757 0.2470 0.3477 0.2472 0.3589 0.3759 0.3653 het 1390.76 122 4 143324094 . G A 1390.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.807;DP=122;Dels=0.00;FS=0.759;HRun=0;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;MQRankSum=-0.974;QD=11.40;ReadPosRankSum=1.115;VQSLOD=6.1128;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,53:122:99:1421,0,1807 4 144442611 144442611 T C exonic SMARCA5 synonymous SNV SMARCA5:NM_003601:exon3:c.T282C:p.Y94Y 0.29 0.22 0.26 0.61 0.21 0.17 0.2275 0.2189 0.2599 0.6106 0.1831 0.1961 0.2013 0.1562 0.2 0.22 0.19 0.22 0.16 rs11100790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2323 0.2179 0.2726 0.2195 0.6078 0.1836 0.1952 0.2258 0.1600 0.2289 0.2110 0.2722 0.2252 0.6242 0.1805 0.2057 0.2254 hom 2015.12 70 4 144442611 . T C 2015.12 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=28.79;VQSLOD=8.7781;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2048,156,0 4 144442735 144442735 C T exonic SMARCA5 synonymous SNV SMARCA5:NM_003601:exon3:c.C406T:p.L136L 0.52 0.51 0.43 0.74 0.42 0.47 0.4613 0.5087 0.4045 0.7369 0.4045 0.4344 0.4492 0.4590 0.46 0.52 0.42 0.48 0.35 rs11541117 COSM3760414 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4568 0.5107 0.4097 0.4572 0.7331 0.4026 0.43 0.4572 0.4632 0.4667 0.5 0.4337 0.5199 0.7401 0.4105 0.4320 0.4589 hom 1290.34 43 4 144442735 . C T 1290.34 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=30.01;VQSLOD=8.4978;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1323,102,0 4 144467104 144467104 T C exonic SMARCA5 synonymous SNV SMARCA5:NM_003601:exon19:c.T2424C:p.N808N 0.99 0.96 1. 1. 1. 1. 0.9982 0.9821 0.9992 1 1 1.0000 1 0.9986 0.99 0.98 1. 0.97 0.82 rs13139128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9987 0.9833 0.9994 1 1 1 1.0000 0.9993 0.9988 0.9959 0.9857 0.9988 1 1 1 1 0.9980 hom 5704.57 182 4 144467104 . T C 5704.57 Mask AC=2;AF=1.00;AN=2;DP=182;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7653;MQ=59.87;MQ0=0;QD=31.34;VQSLOD=8.4330;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5703,484,0 4 144801662 144801662 C T exonic GYPE nonsynonymous SNV GYPE:NM_002102:exon2:c.G38A:p.G13E,GYPE:NM_198682:exon2:c.G38A:p.G13E 0.53 0.62 0.46 0.61 0.49 0.44 0.4329 0.5947 0.3532 0.5770 0.3701 0.4182 0.4137 0.3951 . . . 0.17 . rs1132785 COSM4158833 2(prostate);1(thyroid);7(upper_aerodigestive_tract);1(large_intestine) Benign not_specified RCV000455644.1 MedGen CN169374 . . . . . . 0.937 0.022 T 0.003 0.102 B 0.001 0.040 B . . . 1 0.090 P . . . 4.24 0.026 T 3.46 0.001 N 0.11 0.130 -0.982 0.345 T 0.000 0.000 T . . . -1.875 0.010 0.002 0.229 0.009 0.001 0.008 N c -1.530 -1.809 0.938 0.273 0.554 0.246 0 -3.03 0.051 -2.391 0.011 -1.658 0.008 0.000 0.063 0.005 0.090 4.603 0.117 . ENSG00000251600.1|ENSG00000197465.9|ENSG00000250345.2|ENSG00000197465.9|ENSG00000251600.1|ENSG00000251600.1|ENSG00000250345.2|ENSG00000251600.1|ENSG00000251600.1|ENSG00000197465.9|ENSG00000246448.2|ENSG00000250345.2|ENSG00000251600.1|ENSG00000251600.1|ENSG00000251600.1|ENSG00000251600.1|ENSG00000251600.1|ENSG00000250345.2|ENSG00000251600.1|ENSG00000251600.1|ENSG00000197465.9|ENSG00000251600.1|ENSG00000197465.9|ENSG00000251600.1|ENSG00000197465.9|ENSG00000251600.1|ENSG00000197465.9|ENSG00000251600.1|ENSG00000251600.1|ENSG00000251600.1|ENSG00000197465.9|ENSG00000250345.2|ENSG00000251600.1|ENSG00000250345.2|ENSG00000251600.1|ENSG00000250345.2|ENSG00000251600.1|ENSG00000197465.9|ENSG00000197465.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.4735 0.6352 0.4364 0.4849 0.6275 0.4133 0.4647 0.4733 0.4380 0.5193 0.6351 0.4553 0.4959 0.6145 0.4019 0.4795 0.4563 hom 2749.99 126 4 144801662 . C T 2749.99 Mask AC=2;AF=1.00;AN=2;DP=126;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=52.76;MQ0=4;QD=21.83;VQSLOD=5.8255;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,89:126:99:2783,229,0 4 144918712 144918712 C G exonic GYPB nonsynonymous SNV GYPB:NM_002100:exon4:c.G251C:p.S84T,GYPB:NM_001304382:exon5:c.G173C:p.S58T 0.18 0.067 0.14 0.21 0.18 0.31 0.2190 0.0786 0.1275 0.1973 0.2097 0.2320 0.2483 0.3267 0.18 0.079 0.23 0.22 . rs1132783 COSM5002360 1(pancreas) . . . . . . . . . . . 0.581 0.084 T 0.024 0.178 B 0.01 0.139 B 0.801 0.068 N 1 0.194 P . . . 2.51 0.143 T -0.52 0.262 N 0.119 0.132 -0.913 0.466 T 0.000 0.000 T . . . 0.192 0.112 4.593 0.438 0.033 0.007 0.028 N c -1.316 -1.462 0.128 0.170 0.487 0.133 0 -4.16 0.036 -1.258 0.030 0.622 0.289 0.000 0.063 0.029 0.146 5.188 0.144 . ENSG00000246448.2 Artery_Tibial 0.2160 0.0734 0.1338 0.2587 0.1941 0.2066 0.2312 0.2259 0.3243 0.1784 0.0735 0.1615 0.2616 0.2066 0.2056 0.2250 0.2255 het 1144.05 96 4 144918712 . C G 1144.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.216;DP=96;Dels=0.00;FS=3.945;HRun=0;HaplotypeScore=1.3670;MQ=59.32;MQ0=0;MQRankSum=1.478;QD=11.92;ReadPosRankSum=-0.568;VQSLOD=5.4976;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,46:96:99:1174,0,1311 4 147824864 147824864 G A exonic TTC29 nonsynonymous SNV TTC29:NM_001317806:exon6:c.C418T:p.H140Y,TTC29:NM_031956:exon6:c.C418T:p.H140Y,TTC29:NM_001300761:exon7:c.C496T:p.H166Y 0.55 0.66 0.59 0.55 0.36 0.56 0.4819 0.6136 0.6468 0.5549 0.4222 0.4038 0.4709 0.5855 0.44 0.58 0.37 0.56 . rs17610219 COSM3760420;COSM3760421 1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.090 P -2.9 0.000 N 2.41 0.155 T 4.23 0.000 N 0.088 0.109 -0.940 0.426 T 0.000 0.000 T . . . -0.077 0.086 1.906 0.250 0.011 0.027 0.072 N c -0.980 -0.671 0.005 0.107 0.516 0.203 0 5.62 0.857 4.786 0.619 0.244 0.267 0.997 0.399 0.598 0.288 10.429 0.434 Tetratricopeptide-like helical domain ENSG00000137473.13 Cells_Transformed_fibroblasts 0.4640 0.6085 0.6165 0.4454 0.5391 0.4014 0.3805 0.4580 0.5554 0.4679 0.5975 0.5683 0.4801 0.5257 0.4053 0.3983 0.4199 hom 706.94 25 4 147824864 . G A 706.94 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.73;MQ0=0;QD=28.28;VQSLOD=7.7785;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:57.18:740,57,0 4 148549569 148549569 C T exonic TMEM184C synonymous SNV TMEM184C:NM_018241:exon5:c.C555T:p.F185F . . . . . . 0.0013 0.0003 0.0003 0 0.0006 0.0022 0 0 0.0015 0.0007 0.0019 . . rs148299197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0003 0.0003 0 0 0.0007 0.0019 0.0007 0 0.0009 0.0002 0 0 0 0.0020 0.0013 0.0010 het 1232.99 142 4 148549569 . C T 1232.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.190;DP=142;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7333;MQ=58.82;MQ0=0;MQRankSum=-0.121;QD=8.68;ReadPosRankSum=0.917;VQSLOD=4.3759;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,52:142:99:1263,0,2292 4 148560193 148560193 C T exonic PRMT9 nonsynonymous SNV PRMT9:NM_001350143:exon9:c.G1325A:p.C442Y,PRMT9:NM_001304458:exon10:c.G1901A:p.C634Y,PRMT9:NM_001350141:exon10:c.G1172A:p.C391Y,PRMT9:NM_001350144:exon10:c.G1016A:p.C339Y,PRMT9:NM_138364:exon11:c.G2240A:p.C747Y,PRMT9:NM_001350142:exon12:c.G1901A:p.C634Y 0.0082 . 0.01 . 0.034 . 0.0160 0.0046 0.0110 0 0.0203 0.0241 0.0110 0.0005 0.021 0.0048 0.029 . 0.041 rs11557361 . . . . . . . . . . . . . 0.847 0.028 T 0.947 0.515 P 0.382 0.421 B 0.000 0.843 D 1.000 0.810 D 2.39 0.691 M 1.41 0.334 T -0.45 0.148 N 0.322 0.800 -1.073 0.088 T 0.017 0.070 T . . . 3.681 0.499 23.3 0.900 0.187 0.967 0.705 D c 0.236 0.295 1.000 0.747 0.615 0.372 0 5.25 0.731 5.419 0.660 0.935 0.490 1.000 0.715 0.997 0.653 13.186 0.589 S-adenosyl-L-methionine-dependent methyltransferase . . 0.0160 0.0041 0.0119 0.0024 0 0.0217 0.0256 0.0190 0.0006 0.0164 0.0058 0.0036 0 0 0.0240 0.0238 0.0133 het 888.01 86 4 148560193 . C T 888.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.167;DP=86;Dels=0.00;FS=8.836;HRun=0;HaplotypeScore=2.9423;MQ=59.19;MQ0=0;MQRankSum=-1.430;QD=10.33;ReadPosRankSum=-0.323;VQSLOD=4.1117;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,37:86:99:918,0,1318 4 149356516 149356516 A G exonic NR3C2 synonymous SNV NR3C2:NM_000901:exon2:c.T1497C:p.D499D,NR3C2:NM_001166104:exon2:c.T1497C:p.D499D 0.89 0.93 0.83 0.85 0.92 0.9 0.8819 0.9105 0.7647 0.8567 0.9135 0.8929 0.9064 0.9005 0.9 0.91 0.89 0.88 0.93 rs5525 . . Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_Type_I\x2c_Dominant RCV000253646.1|RCV000348059.1 MedGen|MedGen CN169374|CN239441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8773 0.9079 0.7743 0.9015 0.8618 0.9136 0.8906 0.8791 0.9004 0.8891 0.9023 0.8031 0.8808 0.875 0.9096 0.8835 0.8839 hom 4547.90 146 4 149356516 . A G 4547.90 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4370;MQ=59.53;MQ0=0;QD=31.15;VQSLOD=9.1508;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:146:99:4547,361,0 4 149357475 149357475 C T exonic NR3C2 nonsynonymous SNV NR3C2:NM_000901:exon2:c.G538A:p.V180I,NR3C2:NM_001166104:exon2:c.G538A:p.V180I 0.89 0.93 0.83 0.85 0.92 0.9 0.8812 0.9095 0.7635 0.8561 0.9135 0.8921 0.9042 0.9004 0.9 0.91 0.89 0.87 0.93 rs5522 . . Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_Type_I\x2c_Dominant RCV000245161.1|RCV000313848.1 MedGen|MedGen CN169374|CN239441 . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.040 B 0.958 0.082 N 1 0.090 P . . . -2.46 0.889 D -0.05 0.078 N 0.016 0.007 -1.005 0.284 T 0.000 0.000 T . . . -1.550 0.016 0.002 0.416 0.030 0.011 0.040 N c -1.471 -1.542 0.560 0.214 0.563 0.310 0 -3.8 0.040 -0.321 0.080 -1.085 0.019 0.012 0.185 0.605 0.289 7.615 0.272 . . . 0.8766 0.9072 0.7736 0.8923 0.8618 0.9135 0.8904 0.8781 0.9003 0.8885 0.9020 0.8019 0.8709 0.8745 0.9098 0.8828 0.8822 hom 6384.58 217 4 149357475 . C T 6384.58 Mask AC=2;AF=1.00;AN=2;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0998;MQ=59.05;MQ0=0;QD=29.42;VQSLOD=7.6164;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,215:217:99:6360,494,0 4 151199080 151199080 G A exonic LRBA nonsynonymous SNV LRBA:NM_001199282:exon56:c.C8390T:p.S2797L,LRBA:NM_006726:exon57:c.C8426T:p.S2809L 0.14 0.012 0.13 0.24 0.27 0.095 0.2028 0.0478 0.1019 0.2643 0.2211 0.2579 0.2026 0.1090 0.2 0.053 0.27 0.12 0.22 rs2290846 COSM3760423 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000455932.1 MedGen CN169374 . . . . . . 0.327 0.132 T 0.226 0.288 B 0.028 0.260 B 0.026 0.260 N 0.131 0.355 P 1.175 0.300 L 1.14 0.384 T -0.37 0.132 N 0.12 0.382 -1.017 0.248 T 0.000 0.000 T . . . 5.352 0.725 25.9 0.993 0.570 0.849 0.437 D c -0.203 -0.031 0.893 0.259 0.706 0.609 0 4.37 0.517 3.060 0.494 1.045 0.669 0.997 0.399 0.564 0.282 13.956 0.635 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000170390.10 Whole_Blood 0.2012 0.0440 0.1109 0.1394 0.2639 0.2171 0.2682 0.1996 0.1085 0.1976 0.0501 0.1367 0.1523 0.2960 0.2259 0.2681 0.2393 het 2572.06 170 4 151199080 . G A 2572.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.596;DP=170;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2439;MQ=59.47;MQ0=0;MQRankSum=0.279;QD=15.13;ReadPosRankSum=1.622;VQSLOD=5.5396;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,91:170:99:2602,0,1943 4 151207127 151207127 C T exonic LRBA nonsynonymous SNV LRBA:NM_001199282:exon54:c.G8074A:p.A2692T,LRBA:NM_006726:exon55:c.G8110A:p.A2704T 0.16 0.036 0.16 0.24 0.3 0.12 0.2773 0.0945 0.1852 0.3135 0.3189 0.3392 0.2797 0.1511 0.22 0.079 0.3 0.14 0.16 rs3749574 COSM3760424 1(large_intestine) Benign not_specified RCV000454677.1 MedGen CN169374 . . . . . . 0.239 0.185 T 0.001 0.067 B 0.001 0.104 B 0.000 0.629 D 0.996 0.232 P 0.95 0.239 L 0.89 0.502 T -0.4 0.138 N 0.061 0.479 -1.056 0.128 T 0.000 0.000 T . . . 2.559 0.369 19.85 0.947 0.247 0.562 0.298 D c -0.226 -0.044 0.636 0.220 0.706 0.609 0 4.83 0.617 1.953 0.397 0.935 0.490 0.931 0.321 0.531 0.276 9.317 0.369 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000170390.10 Whole_Blood 0.2091 0.0617 0.1168 0.1620 0.2434 0.2206 0.2796 0.2181 0.1150 0.2192 0.0775 0.1555 0.1921 0.2963 0.2355 0.2914 0.2520 het 259.81 23 4 151207127 . C T 259.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.354;DP=23;Dels=0.00;FS=3.976;HRun=0;HaplotypeScore=0.5784;MQ=58.36;MQ0=0;MQRankSum=-1.446;QD=11.30;ReadPosRankSum=2.739;VQSLOD=3.6330;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,12:23:99:290,0,304 4 152201018 152201018 - CAGGT exonic PRSS48 frameshift insertion PRSS48:NM_183375:exon2:c.123_124insCAGGT:p.S44Rfs*20 0.21 0.079 0.25 0.18 0.42 0.19 0.3391 0.1343 0.1826 0.1977 0.4163 0.4346 0.3508 0.2268 0.34 0.14 0.43 . . rs77216366 COSM4603564;COSM4603563 1(liver);16(upper_aerodigestive_tract);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3337 0.1327 0.1926 0.2898 0.2003 0.4134 0.4416 0.3438 0.2261 0.3337 0.1421 0.2476 0.3079 0.2065 0.4087 0.4442 0.3897 het 6975.81 237 4 152201018 . G GCAGGT 6975.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.313;DP=237;FS=24.184;HRun=0;HaplotypeScore=1109.1055;MQ=51.01;MQ0=0;MQRankSum=-9.291;QD=29.31;ReadPosRankSum=-1.300;set=variant2 GT:AD:DP:GQ:PL 0/1:161,69:237:99:6976,0,6354 4 152212603 152212603 T G exonic PRSS48 stoploss PRSS48:NM_183375:exon5:c.T985G:p.X329E 0.78 0.7 0.87 0.74 0.94 0.69 0.8848 0.7442 0.8786 0.7601 0.8808 0.9603 0.8902 0.7287 0.9 0.75 0.97 0.79 . rs2407221 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . 0.028 0.096 2.857 0.512 0.044 0.002 0.013 N c -0.135 -0.529 0.999 0.398 0.058 0.007 0 0.679 0.171 -0.332 0.079 -0.004 0.134 0.005 0.169 0.031 0.148 0.854 0.011 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000270681.1 Adipose_Subcutaneous 0.8814 0.7340 0.8777 0.9147 0.7490 0.8764 0.9637 0.9081 0.7210 0.8671 0.7315 0.8636 0.9238 0.7326 0.8725 0.9563 0.8929 hom 1151.21 33 4 152212603 . T G 1151.21 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=34.89;VQSLOD=9.8266;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:99:1184,99,0 4 153690842 153690842 T C exonic TIGD4 nonsynonymous SNV TIGD4:NM_145720:exon2:c.A1315G:p.I439V 0.69 0.69 0.75 0.7 0.61 0.75 0.6606 0.6779 0.7914 0.7043 0.6476 0.6121 0.6424 0.7369 0.63 0.67 0.61 0.71 0.56 rs4696354 COSM1131225 2(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.854 0.071 N 1 0.090 P -0.695 0.019 N 2.65 0.127 T 0.02 0.068 N 0.003 0.001 -0.986 0.337 T 0.000 0.000 T . . . -2.974 0.001 0.001 0.157 0.004 0.008 0.032 N c -1.191 -1.092 1.000 0.441 0.615 0.372 0 3.1 0.346 -0.278 0.085 -0.324 0.076 0.000 0.063 0.000 0.016 0.734 0.009 . ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood 0.6646 0.6785 0.7832 0.5482 0.7034 0.6462 0.6173 0.6413 0.7327 0.6502 0.6795 0.7375 0.5298 0.6783 0.6525 0.6285 0.6286 het 930.43 71 4 153690842 . T C 930.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.872;DP=71;Dels=0.00;FS=0.966;HRun=0;HaplotypeScore=1.9092;MQ=58.36;MQ0=0;MQRankSum=0.650;QD=13.10;ReadPosRankSum=-0.869;VQSLOD=5.1872;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,37:71:99:960,0,864 4 153896358 153896358 C T exonic FHDC1 nonsynonymous SNV FHDC1:NM_033393:exon11:c.C1915T:p.R639C 0.48 0.14 0.59 0.55 0.76 0.51 0.6540 0.2225 0.6294 0.5657 0.7416 0.7536 0.6629 0.5434 0.58 0.23 0.76 0.39 0.63 rs3811833 COSM3721816 1(urinary_tract);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.022 0.486 D 0.997 0.689 D 0.563 0.478 P 0.763 0.096 N 1 0.090 P 2.215 0.627 M 1.39 0.338 T -3.32 0.660 D 0.069 0.056 -1.004 0.289 T 0.000 0.000 T . . . 2.680 0.383 20.7 0.998 0.923 0.191 0.203 N c -0.058 -0.213 1.000 0.451 0.635 0.413 0 3.68 0.412 0.609 0.238 0.852 0.362 0.000 0.063 0.003 0.074 13.886 0.631 . . . 0.6600 0.2080 0.6273 0.7621 0.5563 0.7326 0.7533 0.7114 0.5459 0.5936 0.2284 0.6217 0.7881 0.5571 0.7418 0.7644 0.6834 het 1106.95 83 4 153896358 . C T 1106.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.261;DP=83;Dels=0.00;FS=2.996;HRun=0;HaplotypeScore=1.4105;MQ=60.00;MQ0=0;MQRankSum=-0.436;QD=13.34;ReadPosRankSum=-0.241;VQSLOD=6.1975;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,41:83:99:1137,0,1147 4 153896765 153896765 G C exonic FHDC1 synonymous SNV FHDC1:NM_033393:exon11:c.G2322C:p.S774S 0.057 0.12 0.032 0.03 0.043 0.027 0.0463 0.1135 0.0203 0.0239 0.0305 0.0464 0.0446 0.0406 0.064 0.11 0.04 0.15 0.082 rs7688776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0422 0.1133 0.0218 0.0361 0.0230 0.0352 0.0434 0.0380 0.0430 0.0577 0.1139 0.0191 0.0298 0.0216 0.0321 0.0381 0.05 het 2069.93 180 4 153896765 . G C 2069.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.332;DP=180;Dels=0.00;FS=6.396;HRun=1;HaplotypeScore=2.7980;MQ=58.79;MQ0=0;MQRankSum=-0.372;QD=11.50;ReadPosRankSum=-1.843;VQSLOD=4.2653;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,91:180:99:2100,0,2193 4 153897770 153897770 G A exonic FHDC1 synonymous SNV FHDC1:NM_033393:exon11:c.G3327A:p.T1109T 0.46 0.14 0.57 0.55 0.69 0.5 0.6203 0.2362 0.6294 0.5824 0.6457 0.6925 0.6128 0.5465 0.54 0.22 0.7 0.36 0.31 rs3811832 COSM4158864 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6088 0.1959 0.6084 0.7404 0.5555 0.6183 0.6791 0.6651 0.5318 0.5324 0.2160 0.6091 0.7649 0.5576 0.6336 0.6772 0.5992 het 163.20 12 4 153897770 . G A 163.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.869;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.779;QD=13.60;ReadPosRankSum=0.869;VQSLOD=11.4516;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:193,0,153 4 154216710 154216710 G A exonic TRIM2 synonymous SNV TRIM2:NM_001130067:exon6:c.G951A:p.T317T,TRIM2:NM_001351054:exon6:c.G1005A:p.T335T,TRIM2:NM_001351055:exon6:c.G1002A:p.T334T,TRIM2:NM_001351056:exon6:c.G951A:p.T317T,TRIM2:NM_015271:exon6:c.G1032A:p.T344T,TRIM2:NM_001351057:exon7:c.G576A:p.T192T 0.46 0.65 0.4 0.18 0.46 0.51 0.4721 0.6300 0.3680 0.1931 0.5707 0.4902 0.4856 0.4782 0.53 0.63 0.48 0.53 0.37 rs893805 COSM1131224;COSM4002967 1(bone);2(breast);1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4624 0.6350 0.3749 0.4617 0.1944 0.5637 0.4824 0.4662 0.4759 0.5275 0.6330 0.3866 0.4470 0.1896 0.5610 0.5044 0.5288 het 1288.15 101 4 154216710 . G A 1288.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.636;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4947;MQ=58.80;MQ0=0;MQRankSum=0.596;QD=12.75;ReadPosRankSum=1.568;VQSLOD=6.1281;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,50:101:99:1318,0,1287 4 154506081 154506081 G A exonic TMEM131L synonymous SNV TMEM131L:NM_001131007:exon12:c.G1155A:p.Q385Q,TMEM131L:NM_015196:exon12:c.G1152A:p.Q384Q 0.02 . 0.042 0.001 0.064 0.0051 0.0464 0.0115 0.0210 0 0.0654 0.0694 0.0408 0.0107 0.046 0.014 0.063 0.022 0.11 rs11931730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0452 0.0105 0.0240 0.0179 0.0001 0.0691 0.0701 0.0479 0.0114 0.0449 0.0135 0.0239 0.0232 0 0.0616 0.0655 0.0499 het 939.74 81 4 154506081 . G A 939.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.517;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4248;MQ=58.24;MQ0=0;MQRankSum=-0.735;QD=11.60;ReadPosRankSum=1.427;VQSLOD=4.8153;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,37:81:99:970,0,1326 4 154513627 154513627 A G exonic TMEM131L nonsynonymous SNV TMEM131L:NM_001131007:exon18:c.A1813G:p.I605V,TMEM131L:NM_015196:exon18:c.A1810G:p.I604V 0.23 0.15 0.21 0.24 0.31 0.24 0.2838 0.1724 0.1725 0.2460 0.3489 0.3227 0.3029 0.2676 0.27 0.18 0.31 0.2 0.34 rs7669418 COSM149744;COSM3760429 1(stomach);4(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.810 P -2.52 0.001 N 2.72 0.120 T 0.49 0.030 N 0.028 0.009 -0.937 0.431 T 0.000 0.000 T . . . -0.997 0.032 0.016 0.282 0.014 0.049 0.105 N c -0.847 -0.637 1.000 0.489 0.706 0.609 0 3.55 0.396 6.146 0.713 -0.373 0.066 1.000 0.715 0.189 0.215 10.008 0.409 . . . 0.2792 0.1688 0.1725 0.2260 0.2452 0.3488 0.3258 0.2854 0.2667 0.2838 0.1741 0.2184 0.2649 0.2441 0.3443 0.3382 0.3395 hom 1821.80 62 4 154513627 . A G 1821.80 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8835;MQ=58.95;MQ0=0;QD=29.38;VQSLOD=8.4814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1855,144,0 4 154513722 154513722 C T exonic TMEM131L synonymous SNV TMEM131L:NM_001131007:exon18:c.C1908T:p.H636H,TMEM131L:NM_015196:exon18:c.C1905T:p.H635H 0.23 0.15 0.21 0.24 0.31 0.24 0.2836 0.1724 0.1721 0.2459 0.3475 0.3225 0.3029 0.2674 0.27 0.18 0.31 0.2 0.34 rs7669741 COSM149745;COSM3760430 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2793 0.1688 0.1724 0.2263 0.2449 0.3489 0.3259 0.2852 0.2667 0.2839 0.1745 0.2184 0.2667 0.2451 0.3445 0.3380 0.3384 hom 2409.99 86 4 154513722 . C T 2409.99 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5307;MQ=59.13;MQ0=0;QD=28.02;VQSLOD=8.1054;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2443,193,0 4 154514965 154514965 T C exonic TMEM131L nonsynonymous SNV TMEM131L:NM_001131007:exon19:c.T1937C:p.M646T,TMEM131L:NM_015196:exon19:c.T1934C:p.M645T 0.23 0.15 0.22 0.24 0.31 0.24 0.2842 0.1729 0.1731 0.2463 0.3489 0.3231 0.3018 0.2678 0.27 0.18 0.31 0.2 0.34 rs17370297 COSM3760431;COSM149746 1(stomach);1(pancreas);4(prostate);2(large_intestine) . . . . . . . . . . . 0.581 0.151 T 0.527 0.358 P 0.249 0.373 B 0.011 0.296 N 0.961 0.261 P 1.85 0.492 L 2.57 0.171 T -0.06 0.219 N 0.086 0.081 -0.922 0.454 T 0.000 0.000 T . . . 1.016 0.191 10.76 0.689 0.085 0.649 0.323 D c -0.445 -0.341 0.997 0.351 0.707 0.730 0 2.94 0.330 0.800 0.265 0.964 0.580 0.851 0.302 0.996 0.625 5.010 0.136 . . . 0.2795 0.1691 0.1737 0.2264 0.2446 0.3487 0.3259 0.2851 0.2668 0.2843 0.1750 0.2184 0.2649 0.2453 0.3449 0.3384 0.3381 hom 1762.01 63 4 154514965 . T C 1762.01 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.75;MQ0=0;QD=27.97;VQSLOD=6.9628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1795,144,0 4 154624656 154624656 T C exonic TLR2 synonymous SNV TLR2:NM_001318789:exon3:c.T597C:p.N199N,TLR2:NM_001318790:exon3:c.T597C:p.N199N,TLR2:NM_001318791:exon3:c.T597C:p.N199N,TLR2:NM_001318793:exon3:c.T597C:p.N199N,TLR2:NM_001318795:exon3:c.T597C:p.N199N,TLR2:NM_001318796:exon3:c.T597C:p.N199N,TLR2:NM_003264:exon3:c.T597C:p.N199N,TLR2:NM_001318787:exon4:c.T597C:p.N199N 0.41 0.64 0.33 0.28 0.44 0.29 0.4113 0.6113 0.3166 0.2941 0.3755 0.4353 0.3833 0.3322 0.49 0.61 0.44 0.47 0.57 rs3804099 COSM4002970 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4037 0.6137 0.3238 0.4355 0.2895 0.3748 0.4387 0.4191 0.3317 0.4653 0.6145 0.3438 0.4536 0.2794 0.3743 0.4293 0.4274 het 626.45 88 4 154624656 . T C 626.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=88;Dels=0.00;FS=6.153;HRun=0;HaplotypeScore=0.9867;MQ=58.67;MQ0=0;MQRankSum=1.221;QD=7.12;ReadPosRankSum=1.095;VQSLOD=4.1924;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,27:88:99:656,0,1597 4 154631587 154631587 C G exonic RNF175 nonsynonymous SNV RNF175:NM_173662:exon9:c.G921C:p.L307F 0.08 0.0053 0.15 0.004 0.19 0.098 0.2115 0.0453 0.2541 0.0030 0.2784 0.2631 0.1989 0.1441 0.15 0.037 0.2 0.098 . rs1337 COSM3760437;COSM3760438 1(large_intestine) . . . . . . . . . . . 0.117 0.282 T 0.985 0.592 D 0.728 0.534 P 0.001 0.390 N 0.000 0.486 P 1.78 0.463 L 1.54 0.301 T -2.32 0.514 N 0.179 0.260 -1.098 0.044 T 0.000 0.000 T . . . 4.458 0.597 24.2 0.998 0.909 0.902 0.508 D c 0.331 0.247 0.951 0.279 0.693 0.558 0 2.52 0.294 1.302 0.328 0.935 0.490 1.000 0.715 0.997 0.653 3.972 0.089 . ENSG00000137462.6|ENSG00000145428.10 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.1624 0.0300 0.1600 0.1558 0.0022 0.2330 0.2043 0.1675 0.1205 0.1557 0.0335 0.1551 0.1954 0.0012 0.2315 0.2223 0.2006 het 123.35 18 4 154631587 . C G 123.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.763;DP=18;Dels=0.00;FS=2.884;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.890;QD=6.85;ReadPosRankSum=0.421;VQSLOD=5.2822;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,6:18:99:153,0,335 4 154644537 154644537 T C exonic RNF175 nonsynonymous SNV RNF175:NM_173662:exon5:c.A475G:p.M159V 0.093 0.0053 0.16 0.004 0.22 0.12 0.2162 0.0426 0.2110 0.0027 0.2905 0.2705 0.2256 0.1744 0.17 0.041 0.23 0.12 . rs10517577 . . . . . . . . . . . . . 0.127 0.270 T 0.565 0.365 P 0.222 0.362 B 0.000 0.497 N 0.005 0.424 P 1.555 0.395 L -1.08 0.771 T -2.47 0.564 N 0.085 0.172 -1.125 0.020 T 0.000 0.000 T . . . 0.997 0.189 10.65 0.921 0.209 0.857 0.445 D c -0.229 -0.178 0.005 0.110 0.706 0.609 0 0.707 0.172 3.576 0.534 0.146 0.234 1.000 0.715 0.962 0.444 7.410 0.260 . ENSG00000137462.6|ENSG00000145428.10 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.1939 0.0352 0.1830 0.2039 0.0026 0.2670 0.2438 0.2150 0.1513 0.1793 0.0401 0.1763 0.2351 0.0012 0.2615 0.2558 0.2357 het 456.14 45 4 154644537 . T C 456.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.730;DP=45;Dels=0.00;FS=12.588;HRun=0;HaplotypeScore=0.0000;MQ=58.02;MQ0=0;MQRankSum=0.359;QD=10.14;ReadPosRankSum=-1.379;VQSLOD=3.8366;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,18:45:99:486,0,716 4 154709856 154709856 A C exonic SFRP2 synonymous SNV SFRP2:NM_003013:exon1:c.T132G:p.P44P 0.98 0.94 0.99 1. 1. 1. 0.9954 0.9492 0.9976 1 1 0.9999 0.9978 0.9998 0.98 0.95 1. 0.77 0.97 rs6535952 COSM4158870 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9488 0.9972 1 1 1 0.9999 0.9991 0.9999 0.9861 0.9517 0.9964 1 1 1 0.9998 0.9969 hom 4771.91 164 4 154709856 . A C 4771.91 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9315;MQ=59.56;MQ0=0;QD=29.10;VQSLOD=8.2961;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:164:99:4737,388,0 4 155156207 155156207 G A exonic DCHS2 synonymous SNV DCHS2:NM_017639:exon25:c.C8232T:p.D2744D 0.67 0.26 0.65 0.77 0.91 0.89 0.8317 0.3498 0.5921 0.7861 0.9681 0.9217 0.8838 0.9051 0.73 0.36 0.92 0.54 0.89 rs7655799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8322 0.3459 0.5979 0.9084 0.7853 0.9666 0.9224 0.8357 0.9069 0.7538 0.3565 0.6519 0.8808 0.7667 0.9699 0.9262 0.8918 hom 1622.48 50 4 155156207 . G A 1622.48 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=32.45;VQSLOD=9.9160;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1655,132,0 4 155219318 155219318 C T exonic DCHS2 nonsynonymous SNV DCHS2:NM_017639:exon18:c.G4783A:p.E1595K 0.13 0.029 0.1 0.15 0.17 0.24 0.1599 0.0464 0.1268 0.1383 0.1357 0.1752 0.1667 0.2129 0.14 0.066 0.18 0.11 0.16 rs28561984 COSM3760440 3(large_intestine) . . . . . . . . . . . . . . 0.003 0.102 B 0.001 0.040 B 0.817 0.092 N 1 0.090 N 1.08 0.273 L . . . . . . 0.043 0.023 -1.096 0.046 T 0.000 0.001 T . . . 0.948 0.185 10.36 0.839 0.145 0.029 0.076 N c -1.265 -1.249 0.000 0.050 0.487 0.133 0 0.139 0.140 0.565 0.231 -0.815 0.031 0.000 0.063 0.000 0.016 3.095 0.059 Cadherin|Cadherin-like . . 0.1595 0.0437 0.1270 0.2393 0.1411 0.1267 0.1724 0.1779 0.2111 0.1253 0.0430 0.1337 0.2185 0.1578 0.1145 0.1660 0.1857 het 1466.32 102 4 155219318 . C T 1466.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.585;DP=102;Dels=0.00;FS=0.749;HRun=1;HaplotypeScore=3.5296;MQ=59.14;MQ0=0;MQRankSum=-0.127;QD=14.38;ReadPosRankSum=1.693;VQSLOD=5.5943;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,51:102:99:1496,0,1260 4 155219361 155219361 A G exonic DCHS2 synonymous SNV DCHS2:NM_017639:exon18:c.T4740C:p.D1580D 0.17 0.17 0.11 0.15 0.17 0.24 0.1723 0.1742 0.1328 0.1387 0.1357 0.1767 0.1696 0.2130 0.18 0.18 0.18 0.17 0.16 rs17031387 COSM3760441 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1697 0.1753 0.1335 0.2605 0.1412 0.1266 0.1728 0.1832 0.2114 0.1618 0.1698 0.1495 0.2318 0.1574 0.1145 0.1660 0.1914 het 1891.57 119 4 155219361 . A G 1891.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.792;DP=119;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.7882;MQ=59.61;MQ0=0;MQRankSum=1.033;QD=15.90;ReadPosRankSum=-0.122;VQSLOD=5.4110;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,67:119:99:1922,0,1433 4 155219662 155219662 G C exonic DCHS2 nonsynonymous SNV DCHS2:NM_017639:exon18:c.C4439G:p.T1480R 0.17 0.17 0.11 0.15 0.17 0.24 0.1723 0.1741 0.1325 0.1384 0.1356 0.1768 0.1696 0.2135 0.18 0.18 0.18 0.17 0.16 rs17031394 COSM3760442 2(large_intestine) . . . . . . . . . . . . . . 0.001 0.067 B 0.0 0.013 B 0.086 0.024 N 1 0.090 P -0.645 0.021 N . . . . . . 0.083 0.077 -1.038 0.180 T 0.000 0.000 T . . . -1.295 0.022 0.005 0.429 0.032 0.035 0.085 N c -1.523 -1.573 0.976 0.296 0.554 0.246 0 -10.2 0.003 -1.271 0.029 0.154 0.240 0.000 0.063 0.013 0.120 3.735 0.080 Cadherin|Cadherin-like . . 0.1699 0.1753 0.1334 0.2603 0.1412 0.1266 0.1729 0.1830 0.2119 0.1617 0.1701 0.1492 0.2318 0.1561 0.1145 0.1658 0.1914 het 2282.71 186 4 155219662 . G C 2282.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.239;DP=186;Dels=0.00;FS=2.563;HRun=0;HaplotypeScore=6.2055;MQ=58.97;MQ0=0;MQRankSum=-0.280;QD=12.27;ReadPosRankSum=-0.493;VQSLOD=4.2648;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,83:186:99:2313,0,2816 4 155241572 155241572 G A exonic DCHS2 nonsynonymous SNV DCHS2:NM_017639:exon14:c.C3614T:p.S1205L 0.26 0.061 0.3 0.36 0.32 0.36 0.3185 0.0981 0.2903 0.3576 0.4490 0.3294 0.3612 0.3580 0.25 0.1 0.32 0.24 0.31 rs11935573 COSM149748 1(stomach);1(oesophagus);2(prostate);4(large_intestine) . . . . . . . . . . . . . . 0.998 0.715 D 0.891 0.614 P 0.143 0.182 N 0.943 0.267 P 2.66 0.781 M . . . . . . 0.368 0.429 -1.010 0.270 T 0.000 0.000 T . . . 6.423 0.886 29.7 0.999 0.984 0.890 0.490 D c 0.685 0.668 1.000 0.517 0.554 0.246 0 5.56 0.836 4.376 0.591 0.998 0.613 0.988 0.363 1.000 0.888 14.384 0.663 Cadherin|Cadherin-like . . 0.3218 0.0950 0.2834 0.2199 0.3572 0.4513 0.3318 0.3207 0.3594 0.2867 0.0996 0.2768 0.2185 0.3447 0.4605 0.3469 0.3466 het 2381.60 185 4 155241572 . G A 2381.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.614;DP=185;Dels=0.00;FS=2.662;HRun=1;HaplotypeScore=3.2545;MQ=59.06;MQ0=0;MQRankSum=0.238;QD=12.87;ReadPosRankSum=-0.394;VQSLOD=6.3653;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,93:185:99:2412,0,2400 4 155243573 155243573 C T exonic DCHS2 synonymous SNV DCHS2:NM_017639:exon13:c.G2721A:p.S907S 0.79 0.45 0.91 0.88 0.91 0.93 0.8884 0.5115 0.9456 0.8694 0.9517 0.9197 0.9229 0.9427 0.78 0.53 0.92 0.73 0.88 rs13109747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8977 0.5073 0.9404 0.8810 0.8659 0.9494 0.9212 0.9087 0.9436 0.8109 0.5155 0.9260 0.8775 0.8708 0.9513 0.9282 0.9216 hom 2982.07 90 4 155243573 . C T 2982.07 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6584;MQ=59.02;MQ0=0;QD=33.13;VQSLOD=9.6467;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3015,241,0 4 155243604 155243604 T C exonic DCHS2 nonsynonymous SNV DCHS2:NM_017639:exon13:c.A2690G:p.N897S 0.87 0.67 0.96 0.88 0.98 0.94 0.9440 0.7055 0.9754 0.8693 0.9973 0.9788 0.9648 0.9487 0.89 0.72 0.98 0.8 0.93 rs1352714 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.003 0.349 N 1.000 0.182 P -1.135 0.009 N . . . . . . 0.029 0.010 -0.975 0.362 T 0.000 0.000 T . . . -0.054 0.089 2.099 0.482 0.040 0.135 0.177 N c -0.936 -0.689 0.008 0.116 0.487 0.133 0 2.75 0.313 -0.071 0.114 -0.302 0.080 0.630 0.278 0.987 0.523 6.496 0.212 Cadherin|Cadherin-like . . 0.9503 0.7062 0.9735 0.9544 0.866 0.9963 0.9801 0.9567 0.9501 0.9024 0.7154 0.9594 0.9503 0.8693 0.9971 0.9841 0.9705 hom 2670.31 85 4 155243604 . T C 2670.31 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=57.86;MQ0=0;QD=31.42;VQSLOD=7.5644;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,84:85:99:2703,208,0 4 155256177 155256177 A G exonic DCHS2 synonymous SNV DCHS2:NM_001142552:exon4:c.T2556C:p.G852G,DCHS2:NM_017639:exon8:c.T1059C:p.G353G 0.35 0.34 0.32 0.39 0.31 0.38 0.3455 0.3414 0.3140 0.3896 0.3833 0.3370 0.3764 0.3647 0.33 0.33 0.33 0.36 0.35 rs6858157 COSM1131214;COSM149750 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(prostate);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3431 0.3392 0.3047 0.3040 0.3925 0.3887 0.3353 0.3416 0.3668 0.3456 0.3343 0.3098 0.3278 0.3762 0.4021 0.3383 0.3422 het 1393.11 129 4 155256177 . A G 1393.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.875;DP=129;Dels=0.00;FS=5.470;HRun=0;HaplotypeScore=3.2002;MQ=59.28;MQ0=0;MQRankSum=0.636;QD=10.80;ReadPosRankSum=0.222;VQSLOD=5.1513;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,54:129:99:1423,0,1934 4 155256205 155256205 G A exonic DCHS2 nonsynonymous SNV DCHS2:NM_001142552:exon4:c.C2528T:p.S843L,DCHS2:NM_017639:exon8:c.C1031T:p.S344L 0.99 0.95 1. 1. 1. 1. 0.9954 0.9478 0.9989 1 1 0.9999 0.9989 1 0.98 0.95 1. 0.99 0.95 rs6858712 . . . . . . . . . . . . . 0.408 0.102 T 0.017 0.163 B 0.005 0.104 B 0.075 0.023 N 1 0.090 P -0.14 0.045 N 0.62 0.533 T -0.82 0.225 N 0.04 0.039 -0.983 0.344 T 0.000 0.000 T . . . -0.112 0.083 1.643 0.573 0.056 0.007 0.029 N c -1.286 -1.252 0.003 0.097 0.554 0.246 0 -0.301 0.121 0.216 0.172 -0.149 0.108 0.000 0.063 0.001 0.043 2.441 0.042 Cadherin;Cadherin|Cadherin-like . . 0.9964 0.9470 0.9983 0.9999 1 1 0.9999 0.9982 0.9999 0.9860 0.9518 0.9940 1 1 1 0.9998 0.9959 hom 4159.58 132 4 155256205 . G A 4159.58 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.2854;MQ=58.55;MQ0=0;QD=31.51;VQSLOD=9.1848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4159,322,0 4 155287535 155287535 T C exonic DCHS2 nonsynonymous SNV DCHS2:NM_001142552:exon3:c.A2303G:p.H768R,DCHS2:NM_017639:exon5:c.A521G:p.H174R 0.46 0.39 0.41 0.45 0.49 0.58 0.4597 0.4122 0.3816 0.4447 0.4163 0.4591 0.4577 0.5717 0.45 0.41 0.46 0.49 0.43 rs10017772 COSM4416249;COSM4416250 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.978 0.020 T 0.007 0.131 B 0.003 0.080 B 0.823 0.092 N 1 0.090 P -0.83 0.015 N 0.34 0.582 T 1.04 0.013 N 0.052 0.034 -0.914 0.463 T 0.000 0.000 T . . . -0.369 0.064 0.459 0.314 0.018 0.111 0.162 N c -1.089 -0.973 0.884 0.257 0.554 0.246 0 2.1 0.261 0.068 0.143 1.061 0.807 0.004 0.165 0.101 0.189 5.102 0.140 Cadherin|Cadherin conserved site|Cadherin-like . . 0.4562 0.4096 0.3908 0.4299 0.4455 0.4152 0.4643 0.4550 0.5658 0.4369 0.4149 0.3783 0.4735 0.4553 0.4074 0.4561 0.4509 het 1204.48 116 4 155287535 . T C 1204.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.616;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8143;MQ=58.32;MQ0=0;MQRankSum=-0.198;QD=10.38;ReadPosRankSum=-1.690;VQSLOD=4.5546;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,56:116:99:1234,0,1585 4 155295076 155295076 A G exonic DCHS2 nonsynonymous SNV DCHS2:NM_017639:exon4:c.T458C:p.V153A 0.35 0.14 0.36 0.39 0.49 0.44 0.4061 0.1797 0.3550 0.3812 0.4136 0.4435 0.4229 0.4427 0.36 0.19 0.45 0.4 0.39 rs11721758 COSM5008433 3(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.002 0.063 B 0.386 0.044 N 1 0.090 P 1.1 0.281 L . . . . . . 0.053 0.035 -0.929 0.443 T 0.000 0.000 T . . . 0.082 0.102 3.419 0.843 0.147 0.018 0.055 N c -1.207 -1.293 0.007 0.115 0.487 0.133 0 -2.66 0.057 0.060 0.141 -0.268 0.086 0.001 0.137 0.002 0.062 5.159 0.143 Cadherin|Cadherin-like . . 0.4040 0.1739 0.3569 0.4045 0.3701 0.4117 0.4451 0.4112 0.4320 0.3615 0.1903 0.3518 0.4733 0.3782 0.4073 0.4424 0.4306 het 830.73 88 4 155295076 . A G 830.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.249;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=58.24;MQ0=0;MQRankSum=1.773;QD=9.44;ReadPosRankSum=-0.914;VQSLOD=5.8725;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,38:88:99:861,0,1149 4 155488821 155488821 C T exonic FGB synonymous SNV FGB:NM_001184741:exon4:c.C390T:p.S130S,FGB:NM_005141:exon4:c.C567T:p.S189S 0.15 0.076 0.15 0.22 0.2 0.14 0.1745 0.0910 0.1367 0.2338 0.1748 0.1921 0.1993 0.1497 0.16 0.088 0.19 0.14 0.2 rs6056 . . Benign|Benign not_specified|Afibrinogenemia\x2c_congenital RCV000253184.1|RCV000278745.1 MedGen|MedGen:OMIM:Orphanet CN169374|CN071205:202400:ORPHA98880 Fibrinogen . 12.94 20031577 rs6056 8E-39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1717 0.0903 0.1337 0.2037 0.2301 0.1686 0.1871 0.1925 0.1537 0.1707 0.0899 0.1286 0.1722 0.2357 0.1712 0.2107 0.2035 hom 3966.50 138 4 155488821 . C T 3966.50 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=28.74;VQSLOD=8.7239;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:138:99:3966,322,0 4 155490832 155490832 C T exonic FGB synonymous SNV FGB:NM_001184741:exon7:c.C948T:p.Y316Y,FGB:NM_005141:exon7:c.C1125T:p.Y375Y 0.14 0.019 0.15 0.22 0.2 0.14 0.1692 0.0457 0.1349 0.2319 0.1743 0.1902 0.1982 0.1492 0.14 0.05 0.19 0.12 0.2 rs4681 COSM4415328 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Afibrinogenemia\x2c_congenital RCV000247915.1|RCV000339658.1 MedGen|MedGen:OMIM:Orphanet CN169374|CN071205:202400:ORPHA98880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1676 0.0459 0.1319 0.1828 0.2289 0.1682 0.1869 0.1905 0.1535 0.1586 0.0487 0.1289 0.1656 0.2366 0.1709 0.2104 0.1949 hom 2894.88 94 4 155490832 . C T 2894.88 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.689;DP=94;Dels=0.00;FS=3.557;HRun=0;HaplotypeScore=2.7812;MQ=59.26;MQ0=0;MQRankSum=0.950;QD=30.80;ReadPosRankSum=1.397;VQSLOD=4.3945;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,93:94:99:2928,212,0 4 155491759 155491759 G A exonic FGB nonsynonymous SNV FGB:NM_001184741:exon8:c.G1256A:p.R419K,FGB:NM_005141:exon8:c.G1433A:p.R478K 0.15 0.076 0.15 0.22 0.2 0.14 0.1732 0.0905 0.1367 0.2318 0.1744 0.1902 0.1987 0.1497 0.16 0.088 0.19 0.14 0.2 rs4220 COSM4415223 1(breast);1(haematopoietic_and_lymphoid_tissue) other|Benign|Likely benign FIBRINOGEN_BALTIMORE_2|not_specified|Afibrinogenemia\x2c_congenital RCV000017808.1|RCV000244462.1|RCV000285950.1 MedGen|MedGen:OMIM:Orphanet CN169374|CN071205:202400:ORPHA98880 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.000 0.559 N 1.000 0.182 P -1.365 0.006 N -1.19 0.784 T 1.4 0.010 N 0.072 0.061 -1.068 0.098 T 0.000 0.000 T . . . -0.687 0.045 0.077 0.557 0.053 0.101 0.155 N c -1.470 -1.278 0.996 0.344 0.554 0.246 0 -2.97 0.052 3.260 0.510 -1.076 0.019 1.000 0.715 0.936 0.409 7.404 0.260 Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular domain|Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular\x2c subdomain 2 ENSG00000171557.12 Adrenal_Gland 0.1707 0.0904 0.1340 0.1829 0.2287 0.1684 0.1868 0.1920 0.1537 0.1706 0.0899 0.1295 0.16 0.2360 0.1710 0.2107 0.2035 hom 3645.07 107 4 155491759 . G A 3645.07 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=34.07;VQSLOD=10.1368;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3645,280,0 4 155720274 155720274 T C exonic RBM46 synonymous SNV RBM46:NM_001277171:exon4:c.T960C:p.N320N,RBM46:NM_001277173:exon4:c.T960C:p.N320N,RBM46:NM_144979:exon4:c.T960C:p.N320N 0.68 0.92 0.68 0.75 0.42 0.58 0.5310 0.8529 0.7520 0.7447 0.4991 0.4116 0.5374 0.5564 0.56 0.84 0.41 0.78 0.6 rs156502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5349 0.8565 0.7371 0.4050 0.7428 0.4955 0.4129 0.5038 0.5561 0.5759 0.8525 0.6799 0.3377 0.7230 0.4977 0.4224 0.4867 hom 1411.11 48 4 155720274 . T C 1411.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.144;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.65;MQ0=0;MQRankSum=1.660;QD=29.40;ReadPosRankSum=0.866;VQSLOD=8.0170;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,47:48:89.93:1444,90,0 4 156135676 156135676 C T exonic NPY2R synonymous SNV NPY2R:NM_000910:exon2:c.C585T:p.I195I 0.7 0.94 0.5 0.81 0.54 0.56 0.5864 0.8852 0.4555 0.7995 0.6247 0.5374 0.5584 0.5626 0.65 0.87 0.53 0.73 0.6 rs1047214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5766 0.8890 0.4568 0.4829 0.7978 0.6285 0.5391 0.5520 0.5608 0.6689 0.8818 0.4772 0.4735 0.8021 0.6193 0.5624 0.5821 hom 7115.16 220 4 156135676 . C T 7115.16 Mask AC=2;AF=1.00;AN=2;DP=220;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.3375;MQ=58.51;MQ0=0;QD=32.34;VQSLOD=4.7220;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:7114,557,0 4 156136027 156136027 C T exonic NPY2R synonymous SNV NPY2R:NM_000910:exon2:c.C936T:p.I312I 0.66 0.82 0.49 0.76 0.54 0.56 0.5734 0.7785 0.4500 0.7542 0.6238 0.5372 0.5487 0.5628 0.61 0.77 0.53 0.69 0.61 rs2880415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5651 0.7807 0.4507 0.4834 0.7531 0.6277 0.5388 0.5446 0.5560 0.6357 0.7751 0.4712 0.4735 0.7571 0.6191 0.5618 0.5736 hom 5088.15 155 4 156136027 . C T 5088.15 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8884;MQ=59.49;MQ0=0;QD=32.83;VQSLOD=9.4885;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:5088,400,0 4 156273768 156273768 T C exonic MAP9 nonsynonymous SNV MAP9:NM_001039580:exon13:c.A1801G:p.N601D 0.65 0.78 0.53 0.79 0.56 0.52 0.5792 0.7341 0.5130 0.8072 0.7050 0.5413 0.5969 0.5103 0.59 0.72 0.53 0.63 0.56 rs2305050 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.589 0.111 N 1 0.090 P -0.895 0.014 N 2.36 0.164 T -0.02 0.095 N 0.003 0.067 -1.013 0.259 T 0.000 0.000 T . . . 0.507 0.143 7.487 0.733 0.099 0.010 0.038 N c -1.376 -1.209 0.097 0.163 0.638 0.428 0 0.287 0.149 0.108 0.151 -2.092 0.004 0.000 0.063 0.789 0.333 9.443 0.377 . ENSG00000164114.14|ENSG00000250910.3|ENSG00000164114.14|ENSG00000164114.14|ENSG00000250910.3 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Nerve_Tibial|Testis 0.5785 0.7363 0.5174 0.4738 0.8082 0.7153 0.539 0.5663 0.5085 0.6331 0.7284 0.5036 0.4868 0.7969 0.7083 0.5560 0.5801 hom 1586.48 50 4 156273768 . T C 1586.48 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=31.73;VQSLOD=9.3563;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1619,126,0 4 156274377 156274377 T C exonic MAP9 nonsynonymous SNV MAP9:NM_001039580:exon11:c.A1496G:p.K499R 0.41 0.61 0.32 0.59 0.22 0.2 0.2947 0.5437 0.3187 0.5955 0.3431 0.2304 0.2772 0.2048 0.32 0.53 0.22 0.4 0.21 rs1058992 COSM1131208 2(prostate);1(large_intestine) . . . . . . . . . . . 0.22 0.189 T 0.169 0.321 B 0.091 0.319 B 0.014 0.285 N 0.968 0.258 P 1.69 0.435 L 2.98 0.094 T -0.32 0.156 N 0.028 0.040 -1.031 0.201 T 0.000 0.000 T . . . 1.136 0.203 11.41 0.984 0.408 0.528 0.290 D c -0.168 -0.071 0.692 0.226 0.638 0.428 0 4.05 0.462 0.122 0.154 1.061 0.807 0.319 0.253 0.997 0.653 8.684 0.332 . ENSG00000250910.3 Testis 0.2926 0.5508 0.3198 0.2367 0.5945 0.3428 0.2236 0.2648 0.2025 0.3542 0.5405 0.2974 0.2119 0.5918 0.3451 0.2344 0.2634 het 859.78 69 4 156274377 . T C 859.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.054;DP=69;Dels=0.00;FS=2.002;HRun=1;HaplotypeScore=0.8321;MQ=58.76;MQ0=0;MQRankSum=0.858;QD=12.46;ReadPosRankSum=-1.134;VQSLOD=5.9462;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,34:69:99:890,0,970 4 156276289 156276289 C T exonic MAP9 synonymous SNV MAP9:NM_001039580:exon10:c.G1314A:p.V438V 0.74 0.95 0.55 0.93 0.56 0.57 0.5998 0.8984 0.5011 0.9087 0.6977 0.5321 0.5990 0.5542 0.66 0.89 0.54 0.66 0.24 rs2341894 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5790 0.8961 0.4659 0.4856 0.9041 0.7153 0.5173 0.5418 0.5359 0.6981 0.9031 0.5228 0.5166 0.9190 0.7141 0.5707 0.6025 hom 1085.31 41 4 156276289 . C T 1085.31 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.47;VQSLOD=12.3195;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:84.27:1118,84,0 4 156289900 156289900 C T exonic MAP9 synonymous SNV MAP9:NM_001039580:exon5:c.G546A:p.L182L 0.37 0.16 0.4 0.64 0.35 0.36 0.3594 0.1826 0.4226 0.6345 0.4660 0.3312 0.3998 0.3515 0.28 0.18 0.32 0.32 0.41 rs3733390 COSM3760453 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3680 0.1784 0.4155 0.2426 0.6325 0.4816 0.3327 0.3626 0.3496 0.3263 0.1792 0.3935 0.2881 0.6108 0.4774 0.3410 0.3561 het 1534.10 180 4 156289900 . C T 1534.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.594;DP=180;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=2.5165;MQ=59.54;MQ0=0;MQRankSum=-0.024;QD=8.52;ReadPosRankSum=-0.674;VQSLOD=6.1941;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:111,69:180:99:1564,0,3066 4 156289917 156289917 G A exonic MAP9 nonsynonymous SNV MAP9:NM_001039580:exon5:c.C529T:p.R177W 0.17 0.02 0.13 0.21 0.24 0.29 0.2074 0.0484 0.1399 0.2087 0.3235 0.2156 0.2247 0.2738 0.15 0.051 0.21 0.16 0.32 rs3733391 COSM1428168 2(haematopoietic_and_lymphoid_tissue);2(prostate);1(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . 0.066 0.405 T 0.035 0.249 B 0.006 0.145 B 0.736 0.098 N 0.780 0.347 P 1.975 0.537 M 1.92 0.405 T -3.83 0.889 D 0.098 0.312 -1.088 0.059 T 0.000 0.000 T . . . 3.580 0.488 23.2 0.981 0.378 0.805 0.398 D c -0.180 -0.096 0.014 0.125 0.638 0.428 0 3.12 0.348 2.991 0.488 0.897 0.411 0.998 0.411 0.997 0.653 6.310 0.202 . . . 0.2092 0.0434 0.1394 0.1556 0.2106 0.3305 0.2164 0.2040 0.2711 0.1882 0.0471 0.1411 0.1887 0.2 0.3230 0.2364 0.2469 het 1626.46 179 4 156289917 . G A 1626.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.295;DP=179;Dels=0.00;FS=3.783;HRun=1;HaplotypeScore=5.6357;MQ=59.32;MQ0=0;MQRankSum=1.124;QD=9.09;ReadPosRankSum=-0.921;VQSLOD=4.5092;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:111,68:179:99:1656,0,2799 4 156632391 156632391 A G exonic GUCY1A3 synonymous SNV GUCY1A3:NM_001130684:exon5:c.A1074G:p.K358K,GUCY1A3:NM_001130682:exon6:c.A1074G:p.K358K,GUCY1A3:NM_001130683:exon6:c.A1074G:p.K358K,GUCY1A3:NM_001130685:exon6:c.A369G:p.K123K,GUCY1A3:NM_001130687:exon6:c.A1074G:p.K358K,GUCY1A3:NM_001256449:exon6:c.A1074G:p.K358K,GUCY1A3:NM_000856:exon7:c.A1074G:p.K358K 0.98 0.94 0.99 1. 0.99 1. 0.9863 0.9440 0.9938 1 0.9926 0.9859 0.9922 0.9984 0.97 0.95 0.99 0.94 0.97 rs11944673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9871 0.9473 0.9913 0.9867 1 0.9928 0.9850 0.9895 0.9982 0.9755 0.9426 0.9857 0.9934 1 0.9943 0.9856 0.9929 hom 2395.18 74 4 156632391 . A G 2395.18 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=32.37;VQSLOD=9.8915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2428,190,0 4 156721098 156721098 G A exonic GUCY1B3 synonymous SNV GUCY1B3:NM_001291955:exon8:c.G843A:p.T281T,GUCY1B3:NM_000857:exon9:c.G1047A:p.T349T,GUCY1B3:NM_001291954:exon9:c.G1047A:p.T349T,GUCY1B3:NM_001291951:exon10:c.G1113A:p.T371T,GUCY1B3:NM_001291952:exon10:c.G987A:p.T329T,GUCY1B3:NM_001291953:exon10:c.G843A:p.T281T 0.034 0.0015 0.042 0.018 0.052 0.073 0.0371 0.0055 0.0225 0.0357 0.0098 0.0399 0.0567 0.0653 0.027 0.0068 0.037 0.054 . rs17854507 COSM1428186 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0366 0.0058 0.0245 0.0952 0.0344 0.0105 0.0364 0.0471 0.0648 0.0212 0.0052 0.0322 0.09 0.0340 0.0072 0.0305 0.0204 het 2469.55 167 4 156721098 . G A 2469.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.144;DP=167;Dels=0.00;FS=8.272;HRun=0;HaplotypeScore=3.7003;MQ=59.78;MQ0=0;MQRankSum=0.229;QD=14.79;ReadPosRankSum=-1.146;VQSLOD=4.2435;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,98:167:99:2500,0,1797 4 156787340 156787340 G A exonic ASIC5 synonymous SNV ASIC5:NM_017419:exon1:c.C39T:p.N13N 0.85 0.57 0.92 0.96 0.95 0.95 0.9165 0.6178 0.9284 0.9578 0.9535 0.9470 0.9240 0.9363 0.84 0.63 0.94 0.72 0.89 rs6848883 COSM1131206 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9232 0.6142 0.9329 0.9453 0.9598 0.9550 0.9451 0.9293 0.9347 0.8528 0.6231 0.9332 0.9503 0.9509 0.9582 0.9407 0.9150 hom 2778.42 97 4 156787340 . G A 2778.42 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.70;MQ0=0;QD=28.64;VQSLOD=8.5344;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2811,214,0 4 158065038 158065038 T C exonic GLRB synonymous SNV GLRB:NM_000824:exon8:c.T831C:p.T277T,GLRB:NM_001166060:exon8:c.T831C:p.T277T,GLRB:NM_001166061:exon8:c.T831C:p.T277T 0.98 0.93 0.99 1. 1. 1. 0.9937 0.9316 0.9975 1 1 0.9998 0.9989 0.9999 0.98 0.94 1. 0.97 1. rs12507409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9950 0.9279 0.9973 1 1 1 0.9997 0.9980 1.0000 0.9810 0.9332 0.9988 1 1 1 0.9999 0.9980 hom 4479.88 132 4 158065038 . T C 4479.88 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8148;MQ=59.19;MQ0=0;QD=33.94;VQSLOD=8.7332;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4479,352,0 4 158238830 158238830 T C exonic GRIA2 synonymous SNV GRIA2:NM_000826:exon5:c.T687C:p.H229H,GRIA2:NM_001083619:exon5:c.T687C:p.H229H,GRIA2:NM_001083620:exon5:c.T546C:p.H182H 0.66 0.48 0.76 0.79 0.63 0.73 0.6761 0.5180 0.8108 0.8160 0.6480 0.6463 0.6383 0.7322 0.6 0.51 0.65 0.66 0.43 rs4302506 COSM1131203;COSM1131202 1(urinary_tract);1(prostate);1(thymus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6737 0.4982 0.7951 0.6506 0.8144 0.6420 0.6378 0.6443 0.7220 0.6272 0.5129 0.7711 0.6358 0.8201 0.6369 0.6591 0.6802 hom 2177.49 80 4 158238830 . T C 2177.49 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.91;MQ0=0;QD=27.22;VQSLOD=7.8188;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2210,166,0 4 159076826 159076826 C T exonic FAM198B synonymous SNV FAM198B:NM_001128424:exon3:c.G1062A:p.S354S,FAM198B:NM_016613:exon3:c.G1062A:p.S354S,FAM198B:NM_001031700:exon4:c.G1086A:p.S362S 0.77 0.51 0.86 0.95 0.85 0.81 0.8316 0.5533 0.9272 0.9514 0.8370 0.8411 0.8304 0.8370 0.75 0.56 0.84 0.76 0.77 rs6830702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8400 0.5504 0.9153 0.7793 0.9532 0.8363 0.8462 0.8423 0.8380 0.7777 0.5587 0.8914 0.7848 0.9474 0.8419 0.8604 0.8493 hom 2228.75 72 4 159076826 . C T 2228.75 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=58.98;MQ0=0;QD=30.95;VQSLOD=9.5801;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2262,175,0 4 159601676 159601676 C T exonic ETFDH nonsynonymous SNV ETFDH:NM_004453:exon2:c.C92T:p.T31I 0.67 0.15 0.74 0.97 0.86 0.83 0.8119 0.2352 0.7328 0.9750 0.9341 0.8665 0.8546 0.8729 0.66 0.26 0.86 0.6 0.81 rs11559290 COSM4158888 1(thyroid) Benign|Benign not_specified|Glutaric_aciduria\x2c_type_2 RCV000081080.4|RCV000355141.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268596:231680:ORPHA26791:22886006 . . . . . . 0.274 0.158 T 0.0 0.026 B 0.005 0.104 B 0.015 0.285 N 0.964 0.588 P 1.1 0.281 L -4.33 0.972 D -0.73 0.206 N 0.079 0.071 -0.906 0.474 T 0.000 0.000 T . . . 2.025 0.304 16.37 0.976 0.342 0.836 0.424 D c -0.338 -0.164 0.999 0.396 0.706 0.609 0 5.63 0.861 1.101 0.304 0.888 0.391 0.387 0.258 0.383 0.251 8.929 0.346 . ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171497.4|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Nerve_Tibial|Ovary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Uterus 0.8207 0.2314 0.7291 0.8728 0.9755 0.9331 0.8641 0.8335 0.8691 0.7066 0.2434 0.7309 0.8676 0.9802 0.9281 0.8808 0.8517 het 1513.07 125 4 159601676 . C T 1513.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.922;DP=125;Dels=0.00;FS=2.447;HRun=0;HaplotypeScore=4.8907;MQ=59.07;MQ0=0;MQRankSum=2.397;QD=12.10;ReadPosRankSum=-0.161;VQSLOD=4.9363;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,57:125:99:1543,0,1865 4 159631991 159631991 G T exonic PPID nonsynonymous SNV PPID:NM_005038:exon8:c.C904A:p.L302I 0.26 0.37 0.14 0.12 0.29 0.32 0.2700 0.3731 0.1186 0.1322 0.2508 0.2935 0.2472 0.2974 0.33 0.38 0.3 0.3 0.2 rs9410 COSM3760457 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.531 0.070 T 0.0 0.026 B 0.003 0.080 B 0.109 0.195 N 0.997 0.229 P 0.455 0.128 N -0.18 0.658 T 0.44 0.033 N 0.049 0.030 -0.960 0.392 T 0.000 0.000 T . . . 2.182 0.323 17.39 0.835 0.142 0.500 0.283 N c -0.795 -0.627 0.966 0.288 0.719 0.830 0 1.47 0.217 1.260 0.324 -0.207 0.101 1.000 0.715 0.990 0.544 9.251 0.365 Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain ENSG00000171497.4|ENSG00000271817.1|ENSG00000271817.1|ENSG00000171497.4|ENSG00000171503.7|ENSG00000271817.1|ENSG00000271817.1|ENSG00000171503.7|ENSG00000271817.1|ENSG00000171497.4|ENSG00000271817.1|ENSG00000171497.4|ENSG00000171497.4|ENSG00000271817.1|ENSG00000171497.4|ENSG00000271817.1|ENSG00000171503.7|ENSG00000171497.4|ENSG00000171503.7|ENSG00000271817.1|ENSG00000171503.7|ENSG00000171497.4|ENSG00000271817.1|ENSG00000271817.1|ENSG00000171497.4|ENSG00000271817.1|ENSG00000171497.4|ENSG00000271817.1|ENSG00000271817.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.2602 0.3742 0.1309 0.2742 0.1295 0.2555 0.2948 0.2476 0.2936 0.2913 0.3758 0.1587 0.2417 0.1088 0.2639 0.2788 0.2582 het 1185.18 123 4 159631991 . G T 1185.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.342;DP=123;Dels=0.00;FS=13.141;HRun=2;HaplotypeScore=2.7648;MQ=58.90;MQ0=0;MQRankSum=1.273;QD=9.64;ReadPosRankSum=0.901;VQSLOD=3.9176;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,45:123:99:1215,0,1895 4 159881479 159881479 T C exonic C4orf45 synonymous SNV C4orf45:NM_152543:exon3:c.A315G:p.Q105Q 0.2 0.12 0.2 0.24 0.27 0.2 0.2478 0.1404 0.1861 0.2359 0.2740 0.2839 0.2626 0.2022 0.24 0.13 0.29 0.26 . rs9784569 COSM3760464 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2409 0.1327 0.1790 0.2487 0.2278 0.2693 0.2807 0.2570 0.1944 0.2430 0.1453 0.2220 0.27 0.2488 0.2628 0.2944 0.2587 het 364.71 34 4 159881479 . T C 364.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.659;DP=34;Dels=0.00;FS=7.319;HRun=1;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=-0.798;QD=10.73;ReadPosRankSum=-1.145;VQSLOD=4.5976;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,15:34:99:395,0,549 4 159894250 159894250 C T exonic C4orf45 nonsynonymous SNV C4orf45:NM_152543:exon2:c.G278A:p.G93E 0.98 0.93 0.99 1. 1. 1. 0.9934 0.9312 0.9961 1 1 0.9991 0.9966 0.9993 0.98 0.93 1. 0.99 . rs619128 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.804 0.068 N 1 0.090 P -1.95 0.002 N 2.67 0.125 T 3.26 0.001 N 0.026 0.008 -1.031 0.201 T 0.000 0.000 T . . . -1.283 0.023 0.005 0.361 0.023 0.001 0.008 N c -1.772 -1.661 0.008 0.116 0.487 0.133 0 0.268 0.148 -0.341 0.078 -1.694 0.008 0.000 0.063 0.005 0.090 4.688 0.121 . . . 0.9944 0.9298 0.9958 0.9980 1 1 0.9992 0.9943 0.9994 0.9810 0.9351 0.9976 1 1 1 0.9990 0.9949 hom 475.35 17 4 159894250 . C T 475.35 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.17;MQ0=0;QD=27.96;VQSLOD=8.2533;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:39.12:508,39,0 4 159894277 159894277 T C exonic C4orf45 nonsynonymous SNV C4orf45:NM_152543:exon2:c.A251G:p.Y84C 0.083 0.083 0.027 0.22 0.034 0.031 0.0463 0.0665 0.0255 0.2059 0.0770 0.0254 0.0508 0.0371 0.04 0.06 0.031 0.087 . rs17037858 . . . . . . . . . . . . . 0.014 0.531 D 0.019 0.167 B 0.015 0.162 B 0.071 0.215 N 1 0.090 P 1.445 0.365 L 2.28 0.173 T -5.35 0.847 D 0.187 0.228 -1.028 0.211 T 0.000 0.000 T . . . 0.852 0.175 9.783 0.924 0.212 0.022 0.064 N c -0.638 -0.652 0.011 0.122 0.487 0.133 0 1.65 0.229 -0.167 0.098 0.081 0.190 0.000 0.063 0.609 0.290 3.275 0.064 . . . 0.0475 0.0655 0.0310 0.0392 0.2065 0.0780 0.0237 0.0404 0.0357 0.0517 0.0648 0.0310 0.0298 0.2132 0.0745 0.0238 0.0377 het 304.46 26 4 159894277 . T C 304.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.605;DP=26;Dels=0.00;FS=1.580;HRun=0;HaplotypeScore=1.9924;MQ=54.39;MQ0=0;MQRankSum=-1.006;QD=11.71;ReadPosRankSum=-0.190;VQSLOD=2.5882;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,13:26:99:334,0,295 4 159894305 159894305 T C exonic C4orf45 nonsynonymous SNV C4orf45:NM_152543:exon2:c.A223G:p.S75G 0.98 0.93 0.99 1. 1. 1. 0.9946 0.9448 0.9972 1 1 0.9990 0.9978 0.9993 0.98 0.95 1. 0.99 . rs662473 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.396 N 1 0.090 P -2.585 0.000 N 2.84 0.107 T 5.24 0.000 N 0.074 0.064 -0.976 0.359 T 0.000 0.000 T . . . -0.939 0.034 0.021 0.188 0.006 0.002 0.011 N c -1.205 -1.018 0.212 0.183 0.487 0.133 0 4.84 0.620 0.389 0.203 -0.520 0.050 0.001 0.137 0.003 0.074 7.756 0.279 . . . 0.9953 0.9426 0.9966 0.9981 1 1 0.9991 0.9949 0.9994 0.9838 0.9451 0.9976 1 1 0.9997 0.9990 0.9949 hom 666.38 25 4 159894305 . T C 666.38 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.54;MQ0=0;QD=26.66;VQSLOD=8.2698;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:25:54.17:699,54,0 4 159894391 159894391 G A exonic C4orf45 nonsynonymous SNV C4orf45:NM_152543:exon2:c.C137T:p.A46V 0.15 . 0.059 0.33 0.13 0.27 0.1458 0.0235 0.0804 0.3540 0.1568 0.1198 0.1273 0.2564 0.093 0.029 0.12 0.14 . rs17037864 COSM4002983 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.232 0.182 T 0.009 0.139 B 0.003 0.080 B 0.823 0.069 N 1 0.090 P 0.58 0.154 N 2.45 0.150 T -2.01 0.463 N 0.035 0.015 -0.906 0.473 T 0.000 0.000 T . . . -0.448 0.059 0.296 0.769 0.113 0.009 0.036 N c -1.320 -1.394 0.149 0.174 0.487 0.133 0 -4.88 0.029 -0.726 0.050 -1.074 0.019 0.000 0.063 0.020 0.134 7.175 0.248 . . . 0.1421 0.0228 0.0762 0.0421 0.3520 0.1548 0.1231 0.1146 0.2527 0.1078 0.0247 0.0863 0.0199 0.3864 0.1553 0.1175 0.1163 het 675.68 41 4 159894391 . G A 675.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.826;DP=41;Dels=0.00;FS=4.815;HRun=0;HaplotypeScore=0.0000;MQ=57.46;MQ0=0;MQRankSum=0.501;QD=16.48;ReadPosRankSum=0.474;VQSLOD=4.2534;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,26:41:99:706,0,345 4 160277276 160277276 C T exonic RAPGEF2 synonymous SNV RAPGEF2:NM_014247:exon23:c.C4440T:p.P1480P,RAPGEF2:NM_001351727:exon24:c.C4515T:p.P1505P,RAPGEF2:NM_001351728:exon24:c.C4563T:p.P1521P,RAPGEF2:NM_001351725:exon26:c.C4575T:p.P1525P,RAPGEF2:NM_001351726:exon26:c.C4575T:p.P1525P,RAPGEF2:NM_001351724:exon30:c.C4998T:p.P1666P 0.35 0.24 0.55 0.098 0.55 0.42 0.4918 0.2715 0.5458 0.0680 0.5274 0.5832 0.4699 0.4232 0.48 0.26 0.58 0.36 0.5 rs1135004 COSM4158892 1(bone);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4942 0.2662 0.5394 0.4616 0.0680 0.5343 0.5929 0.5068 0.4209 0.4695 0.2692 0.5107 0.4470 0.0821 0.5246 0.6109 0.5082 het 1088.87 75 4 160277276 . C T 1088.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.730;DP=75;Dels=0.00;FS=0.912;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=0.450;QD=14.52;ReadPosRankSum=-0.418;VQSLOD=6.2061;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,40:75:99:1119,0,971 4 162307312 162307312 C A exonic FSTL5 nonsynonymous SNV FSTL5:NM_001128428:exon15:c.G2101T:p.D701Y,FSTL5:NM_001128427:exon16:c.G2128T:p.D710Y,FSTL5:NM_020116:exon16:c.G2131T:p.D711Y 0.091 0.063 0.12 0.07 0.12 0.099 0.1085 0.0658 0.1531 0.0612 0.2002 0.1056 0.1134 0.1037 0.087 0.067 0.097 0.11 0.041 rs3749598 . . . . . . . . . . . . . 0.012 0.555 D 1.0 0.899 D 0.976 0.719 D 0.000 0.843 D 0.000 0.588 P 2.44 0.710 M 1.6 0.286 T -3.13 0.639 D 0.318 0.806 -1.046 0.156 T 0.003 0.010 T . . . 4.897 0.658 24.9 0.994 0.617 0.975 0.752 D c 0.341 0.250 0.028 0.138 0.554 0.246 0 3.98 0.452 4.612 0.606 0.935 0.490 1.000 0.715 0.936 0.409 11.527 0.497 WD40/YVTN repeat-like-containing domain . . 0.1120 0.0652 0.1486 0.0677 0.0624 0.1999 0.1035 0.1118 0.1044 0.1132 0.0644 0.1325 0.07 0.0562 0.1996 0.1249 0.1503 het 1676.91 124 4 162307312 . C A 1676.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.594;DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7187;MQ=58.57;MQ0=1;MQRankSum=0.347;QD=13.52;ReadPosRankSum=-0.534;VQSLOD=5.6597;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,65:124:99:1707,0,1582 4 164085425 164085425 T C exonic NAF1 nonsynonymous SNV NAF1:NM_001128931:exon2:c.A484G:p.I162V,NAF1:NM_138386:exon2:c.A484G:p.I162V 0.79 0.79 0.78 0.79 0.76 0.84 0.7961 0.7812 0.7792 0.7912 0.8167 0.7866 0.8060 0.8489 0.77 0.78 0.77 0.8 0.62 rs4691896 COSM5002604;COSM5002605 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.292 0.039 N 1 0.090 P -1.65 0.004 N 1.59 0.288 T 0.3 0.042 N 0.004 0.000 -0.983 0.344 T 0.000 0.000 T . . . -1.597 0.015 0.002 0.318 0.018 0.004 0.021 N c -1.424 -1.292 1.000 0.458 0.660 0.490 0 -0.137 0.128 -0.735 0.050 -2.889 0.002 0.063 0.217 0.740 0.319 1.487 0.023 . ENSG00000145414.4|ENSG00000250027.1|ENSG00000250027.1|ENSG00000145414.4 Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.7899 0.7761 0.7841 0.7612 0.7854 0.8192 0.7764 0.7775 0.8493 0.7767 0.7672 0.8022 0.7219 0.7860 0.8148 0.7713 0.7894 het 690.65 65 4 164085425 . T C 690.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.516;DP=65;Dels=0.00;FS=0.966;HRun=0;HaplotypeScore=0.9159;MQ=59.43;MQ0=0;MQRankSum=1.201;QD=10.63;ReadPosRankSum=0.912;VQSLOD=6.5673;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,32:65:99:721,0,883 4 164393117 164393117 T A exonic TKTL2 nonsynonymous SNV TKTL2:NM_032136:exon1:c.A1770T:p.Q590H 0.17 0.14 0.078 0.29 0.19 0.13 0.1708 0.1536 0.0635 0.2951 0.1254 0.1834 0.1606 0.1582 0.18 0.16 0.18 0.12 0.11 rs11735477 COSM1131191 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.683 0.044 T 0.009 0.139 B 0.012 0.149 B 0.008 0.309 N 1 0.090 P -1.115 0.009 N -2.76 0.909 D 1.13 0.012 N 0.071 0.059 -1.089 0.056 T 0.000 0.000 T . . . -0.239 0.073 0.906 0.292 0.015 0.020 0.060 N c -1.162 -1.108 0.122 0.169 0.487 0.133 0 -1.18 0.091 -0.532 0.062 -0.962 0.024 0.001 0.137 0.601 0.289 2.006 0.032 Transketolase\x2c C-terminal/Pyruvate-ferredoxin oxidoreductase\x2c domain II ENSG00000198498.5|ENSG00000145416.9|ENSG00000273449.1|ENSG00000198498.5 Cells_Transformed_fibroblasts|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis 0.1589 0.1542 0.0679 0.0847 0.3009 0.1216 0.1839 0.1406 0.1433 0.1676 0.1534 0.1038 0.0762 0.3033 0.1232 0.1778 0.1544 het 2127.09 151 4 164393117 . T A 2127.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.793;DP=151;Dels=0.00;FS=0.597;HRun=0;HaplotypeScore=3.4232;MQ=58.83;MQ0=0;MQRankSum=-0.432;QD=14.09;ReadPosRankSum=-0.564;VQSLOD=6.0794;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,77:151:99:2157,0,1922 4 164435265 164435265 A C exonic TMA16 nonsynonymous SNV TMA16:NM_018352:exon4:c.A194C:p.Q65P 0.38 0.25 0.6 0.34 0.47 0.35 0.4516 0.2746 0.6805 0.3263 0.5309 0.4708 0.4308 0.3520 0.41 0.27 0.47 0.4 0.54 rs2304802 COSM149752 3(haematopoietic_and_lymphoid_tissue);1(stomach);1(urinary_tract);2(prostate);2(large_intestine) . . . . . . . . . . . 0.362 0.130 T 0.0 0.026 B 0.001 0.040 B 0.434 0.127 N 1 0.090 P -0.11 0.046 N 1.53 0.304 T -2.01 0.463 N 0.135 0.459 -0.955 0.400 T 0.000 0.000 T . . . 0.497 0.142 7.408 0.801 0.126 0.172 0.195 N c -0.681 -0.648 1.000 0.480 0.722 0.854 0 2.96 0.332 1.441 0.344 1.199 0.960 0.001 0.137 0.168 0.210 8.714 0.334 . ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1|ENSG00000145416.9|ENSG00000198498.5|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000198498.5|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000198498.5|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Vagina|Vagina|Whole_Blood 0.4599 0.2687 0.6610 0.3957 0.3221 0.5314 0.4720 0.4670 0.3418 0.4236 0.2700 0.6361 0.4470 0.3007 0.5230 0.4868 0.4826 het 1908.22 139 4 164435265 . A C 1908.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.477;DP=139;Dels=0.00;FS=3.033;HRun=4;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;MQRankSum=0.196;QD=13.73;ReadPosRankSum=-0.027;VQSLOD=5.9892;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,75:139:99:1938,0,1568 4 164440581 164440581 T C exonic TMA16 nonsynonymous SNV TMA16:NM_018352:exon7:c.T527C:p.I176T 0.38 0.25 0.61 0.34 0.47 0.35 0.4533 0.2769 0.6814 0.3274 0.5325 0.4734 0.4326 0.3522 0.42 0.28 0.48 0.4 0.41 rs1561736 COSM149753 1(haematopoietic_and_lymphoid_tissue);1(stomach);4(prostate);2(large_intestine) . . . . . . . . . . . 0.763 0.034 T 0.0 0.026 B 0.001 0.040 B 0.398 0.045 N 1 0.090 P 0.755 0.192 N 1.99 0.217 T 1.11 0.012 N 0.051 0.297 -0.929 0.443 T 0.000 0.000 T . . . -1.132 0.027 0.009 0.527 0.047 0.099 0.154 N c -1.135 -1.167 0.038 0.144 0.732 0.924 0 -0.516 0.113 -0.892 0.042 1.061 0.807 0.000 0.063 0.008 0.104 3.462 0.070 . ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1|ENSG00000145416.9|ENSG00000198498.5|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000198498.5|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000198498.5|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Vagina|Vagina|Whole_Blood 0.4589 0.2687 0.6587 0.3967 0.3198 0.5313 0.4718 0.4634 0.3371 0.4238 0.2716 0.6304 0.4470 0.3017 0.5235 0.4865 0.4847 het 772.36 50 4 164440581 . T C 772.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.040;DP=50;Dels=0.00;FS=11.048;HRun=0;HaplotypeScore=0.7340;MQ=59.13;MQ0=0;MQRankSum=0.802;QD=15.45;ReadPosRankSum=1.594;VQSLOD=3.5041;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,30:50:99:802,0,533 4 164466824 164466824 C T exonic MARCH1 synonymous SNV MARCH1:NM_017923:exon3:c.G444A:p.A148A,MARCH1:NM_001166373:exon7:c.G495A:p.A165A 0.39 0.28 0.6 0.35 0.46 0.34 0.4437 0.2843 0.6775 0.3316 0.5287 0.4602 0.4229 0.3393 0.41 0.28 0.47 0.39 0.52 rs13130399 COSM149754;COSM4002986 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4564 0.2820 0.6585 0.4001 0.3274 0.5310 0.4625 0.4604 0.3370 0.4224 0.2811 0.6325 0.4536 0.3017 0.5235 0.4778 0.4806 het 2571.49 182 4 164466824 . C T 2571.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.959;DP=182;Dels=0.00;FS=3.418;HRun=1;HaplotypeScore=7.7658;MQ=59.30;MQ0=0;MQRankSum=-0.145;QD=14.13;ReadPosRankSum=0.869;VQSLOD=4.6683;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,96:182:99:2601,0,2281 4 165878609 165878609 T A exonic FAM218A synonymous SNV FAM218A:NM_153027:exon1:c.T435A:p.S145S 0.24 0.21 0.35 0.094 0.31 0.28 0.2850 0.2253 0.3695 0.0890 0.2083 0.3050 0.3057 0.3151 0.29 0.23 0.32 0.26 0.29 rs3196673 COSM4002987 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2889 0.2258 0.3666 0.3832 0.0858 0.2085 0.3056 0.3164 0.3122 0.2541 0.2244 0.3885 0.4106 0.0939 0.2119 0.2873 0.2617 het 1605.48 110 4 165878609 . T A 1605.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.536;DP=110;Dels=0.00;FS=2.675;HRun=0;HaplotypeScore=5.4275;MQ=58.24;MQ0=0;MQRankSum=0.105;QD=14.60;ReadPosRankSum=-0.759;VQSLOD=4.1332;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,60:110:99:1635,0,1452 4 166021811 166021811 G C exonic TMEM192 synonymous SNV TMEM192:NM_001100389:exon3:c.C408G:p.L136L 0.35 0.63 0.23 0.37 0.19 0.21 0.2595 0.5640 0.2302 0.3446 0.2309 0.2195 0.2472 0.2287 0.32 0.53 0.22 0.37 0.37 rs6536890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2545 0.5706 0.2208 0.2944 0.3404 0.2319 0.2156 0.2389 0.2333 0.3256 0.5627 0.2518 0.3079 0.3360 0.2390 0.2170 0.2403 het 975.07 90 4 166021811 . G C 975.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.275;DP=90;Dels=0.00;FS=2.913;HRun=0;HaplotypeScore=0.9789;MQ=59.74;MQ0=0;MQRankSum=-1.361;QD=10.83;ReadPosRankSum=0.008;VQSLOD=5.8169;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,41:90:99:1005,0,1479 4 166929102 166929102 G A exonic TLL1 synonymous SNV TLL1:NM_001204760:exon7:c.G819A:p.E273E,TLL1:NM_012464:exon7:c.G819A:p.E273E 0.052 0.045 0.053 0.088 0.043 0.033 0.0357 0.0426 0.0362 0.0651 0.0349 0.0301 0.0353 0.0390 0.034 0.042 0.03 0.054 0.025 rs17590218 COSM1131188 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0360 0.0422 0.0358 0.0416 0.0634 0.0325 0.0305 0.0350 0.0383 0.0361 0.0406 0.0396 0.0364 0.0631 0.0349 0.0307 0.0378 het 333.07 36 4 166929102 . G A 333.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.290;DP=36;Dels=0.00;FS=1.619;HRun=1;HaplotypeScore=0.0000;MQ=55.35;MQ0=0;MQRankSum=-0.290;QD=9.25;ReadPosRankSum=0.324;VQSLOD=2.6082;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,14:36:99:363,0,578 4 167012381 167012381 G A exonic TLL1 synonymous SNV TLL1:NM_012464:exon19:c.G2544A:p.L848L 0.91 0.75 0.95 1. 0.97 0.93 0.9510 0.7744 0.9735 0.9969 0.9879 0.9657 0.9558 0.9489 0.9 0.78 0.97 0.88 0.95 rs2654492 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9545 0.7665 0.9697 0.9306 0.9961 0.9834 0.9665 0.9566 0.9509 0.9158 0.7786 0.9581 0.9272 0.9937 0.9857 0.9656 0.9582 hom 1896.40 64 4 167012381 . G A 1896.40 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=57.41;MQ0=0;QD=29.63;VQSLOD=6.9380;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1929,156,0 4 167012480 167012480 T C exonic TLL1 synonymous SNV TLL1:NM_012464:exon19:c.T2643C:p.A881A 0.97 0.89 0.99 1. 1. 1. 0.9920 0.9116 0.9968 1 1 0.9999 1 0.9999 0.97 0.92 1. 0.95 0.98 rs2646914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9937 0.9097 0.9960 1 1 1 0.9999 0.9976 0.9999 0.9744 0.9111 0.9928 1 1 1 0.9999 0.9929 hom 1498.57 52 4 167012480 . T C 1498.57 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=28.82;VQSLOD=7.6764;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1532,114,0 4 167656073 167656073 C T exonic SPOCK3 synonymous SNV SPOCK3:NM_001251967:exon8:c.G1016A:p.X339X,SPOCK3:NM_001204355:exon9:c.G1022A:p.X341X,SPOCK3:NM_001204353:exon10:c.G950A:p.X317X,SPOCK3:NM_001204354:exon10:c.G1034A:p.X345X,SPOCK3:NM_001204356:exon10:c.G1181A:p.X394X,SPOCK3:NM_001040159:exon11:c.G1301A:p.X434X,SPOCK3:NM_001204352:exon12:c.G1157A:p.X386X,SPOCK3:NM_016950:exon12:c.G1310A:p.X437X 0.13 0.011 0.12 0.001 0.26 0.3 0.2038 0.0391 0.1090 0.0020 0.1729 0.2598 0.1996 0.2636 0.19 0.041 0.27 0.076 0.15 rs1057377 COSM4785160;COSM3760471;COSM3760472;COSM5829859 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2000 0.0365 0.1061 0.3201 0.0017 0.1760 0.2551 0.2129 0.2579 0.1681 0.0442 0.1181 0.3179 0.0019 0.1851 0.2507 0.2202 het 369.22 49 4 167656073 . C T 369.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.995;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.28;MQ0=0;MQRankSum=1.716;QD=7.54;ReadPosRankSum=-0.373;VQSLOD=5.4318;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,16:49:99:399,0,982 4 167658622 167658622 A G exonic SPOCK3 synonymous SNV SPOCK3:NM_001251967:exon7:c.T843C:p.D281D,SPOCK3:NM_001204355:exon8:c.T849C:p.D283D,SPOCK3:NM_001204353:exon9:c.T777C:p.D259D,SPOCK3:NM_001204354:exon9:c.T861C:p.D287D,SPOCK3:NM_001204356:exon9:c.T1008C:p.D336D,SPOCK3:NM_001040159:exon10:c.T1128C:p.D376D,SPOCK3:NM_001204352:exon11:c.T984C:p.D328D,SPOCK3:NM_016950:exon11:c.T1137C:p.D379D 0.005 0.003 0.0014 . 0.018 0.002 0.0131 0.0029 0.0036 0 0.0251 0.0196 0.0102 0.0015 0.016 0.0032 0.022 . 0.016 rs34665704 COSM3993536;COSM3993535;COSM4908285 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0128 0.0024 0.0055 0.0051 0 0.0256 0.0197 0.0135 0.0015 0.0180 0.0037 0.0072 0.0099 0.0006 0.0235 0.0273 0.0235 het 2692.41 209 4 167658622 . A G 2692.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.483;DP=209;Dels=0.00;FS=0.543;HRun=0;HaplotypeScore=2.7678;MQ=59.18;MQ0=0;MQRankSum=-1.361;QD=12.88;ReadPosRankSum=0.857;VQSLOD=5.1751;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:109,100:209:99:2722,0,2814 4 169083694 169083694 A C exonic ANXA10 nonsynonymous SNV ANXA10:NM_007193:exon4:c.A211C:p.M71L 0.53 0.74 0.47 0.24 0.59 0.53 0.5411 0.7151 0.4373 0.2296 0.4543 0.5866 0.5442 0.5172 0.63 0.71 0.58 0.49 0.61 rs6836994 COSM149755 1(stomach);2(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.090 P -3.24 0.000 N 3.88 0.036 T 1.83 0.005 N 0.069 0.056 -1.018 0.244 T 0.000 0.000 T . . . -0.677 0.046 0.082 0.466 0.037 0.004 0.020 N c -1.398 -1.129 0.972 0.293 0.487 0.133 0 2.56 0.297 0.828 0.269 0.038 0.153 0.958 0.332 0.374 0.250 6.478 0.211 . ENSG00000109511.6|ENSG00000109511.6 Esophagus_Muscularis|Liver 0.5288 0.7190 0.4448 0.5822 0.2278 0.4531 0.5881 0.5576 0.5117 0.5720 0.7081 0.4532 0.5530 0.2258 0.4631 0.5672 0.5031 het 764.04 65 4 169083694 . A C 764.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.662;DP=65;Dels=0.00;FS=3.060;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.284;QD=11.75;ReadPosRankSum=-0.112;VQSLOD=6.1888;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,29:65:99:794,0,981 4 169086441 169086441 A G exonic ANXA10 synonymous SNV ANXA10:NM_007193:exon6:c.A444G:p.S148S 0.53 0.74 0.47 0.24 0.59 0.53 0.5397 0.7145 0.4341 0.2296 0.4540 0.5857 0.5430 0.5140 0.63 0.71 0.58 0.48 0.57 rs4405979 COSM149756 1(stomach);1(thymus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5249 0.7168 0.4337 0.5801 0.2232 0.4528 0.5854 0.5520 0.5034 0.5722 0.7084 0.4554 0.5530 0.2256 0.4643 0.5668 0.5031 het 1027.66 90 4 169086441 . A G 1027.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.692;DP=90;Dels=0.00;FS=5.203;HRun=2;HaplotypeScore=0.9958;MQ=58.96;MQ0=0;MQRankSum=0.981;QD=11.42;ReadPosRankSum=0.488;VQSLOD=5.5341;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,44:90:99:1058,0,1175 4 169098914 169098914 A G exonic ANXA10 synonymous SNV ANXA10:NM_007193:exon7:c.A504G:p.T168T 0.11 0.11 0.13 0.048 0.23 0.069 0.1548 0.1146 0.0869 0.0408 0.1860 0.2036 0.1454 0.0778 0.18 0.12 0.21 0.087 0.21 rs477897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1540 0.1110 0.0977 0.1637 0.0429 0.1859 0.2076 0.1664 0.0763 0.1594 0.1181 0.1110 0.1556 0.0506 0.1952 0.1906 0.1456 het 1304.34 136 4 169098914 . A G 1304.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.214;DP=136;Dels=0.00;FS=0.664;HRun=1;HaplotypeScore=3.4699;MQ=59.69;MQ0=0;MQRankSum=-0.158;QD=9.59;ReadPosRankSum=-0.705;VQSLOD=6.0160;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,54:136:99:1334,0,2092 4 169282355 169282355 T C exonic DDX60L nonsynonymous SNV DDX60L:NM_001012967:exon37:c.A4936G:p.M1646V,DDX60L:NM_001345927:exon37:c.A4939G:p.M1647V 0.58 0.37 0.62 0.75 0.64 0.59 0.6378 0.4205 0.6504 0.7441 0.6335 0.6597 0.6160 0.6091 0.58 0.41 0.66 0.5 . rs2684348 COSM4005705 1(urinary_tract);1(pancreas) . . . . . . . . . . . 0.241 0.176 T 0.01 0.144 B 0.006 0.112 B . . . 1 0.090 P 0 0.065 N 2.35 0.162 T -0.7 0.199 N 0.088 0.084 -1.037 0.183 T 0.000 0.000 T . . . -0.952 0.034 0.020 0.361 0.023 0.005 0.024 N c -1.356 -1.423 0.998 0.360 0.707 0.730 0 -2.12 0.067 -1.019 0.037 -0.818 0.031 0.000 0.063 0.001 0.043 3.161 0.061 . . . 0.6214 0.3756 0.6238 0.6381 0.7415 0.6107 0.6447 0.6252 0.5898 0.5738 0.3752 0.6411 0.6490 0.7714 0.6196 0.6492 0.6194 hom 350.89 13 4 169282355 . T C 350.89 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=26.99;VQSLOD=6.6319;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:30.09:384,30,0 4 169315760 169315760 C A exonic DDX60L nonsynonymous SNV DDX60L:NM_001012967:exon28:c.G3666T:p.E1222D,DDX60L:NM_001291510:exon28:c.G3669T:p.E1223D,DDX60L:NM_001345927:exon28:c.G3669T:p.E1223D 0.87 0.66 0.97 0.9 1. 0.93 0.9578 0.7077 0.9844 0.9108 0.9989 0.9924 0.9666 0.9551 0.91 0.73 0.99 0.8 . rs3749499 COSM4158897;COSM4909387 1(thyroid) . . . . . . . . . . . 0.454 0.089 T 0.0 0.067 B 0.001 0.040 B 0.155 0.030 N 1 0.090 P 0.655 0.162 N -0.53 0.913 T -1.26 0.318 N 0.011 0.106 -0.962 0.388 T 0.000 0.000 T . . . 0.018 0.095 2.759 0.761 0.110 0.014 0.046 N c -1.199 -1.354 0.949 0.278 0.732 0.924 0 -2.05 0.069 -0.320 0.080 -1.000 0.022 0.000 0.063 0.000 0.016 1.817 0.029 Helicase\x2c C-terminal|P-loop containing nucleoside triphosphate hydrolase . . 0.9618 0.7041 0.9834 0.9347 0.9122 0.9994 0.9952 0.9739 0.9541 0.9079 0.7085 0.9714 0.9106 0.9171 0.9997 0.9935 0.9704 hom 2082.20 73 4 169315760 . C A 2082.20 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.92;MQ0=0;QD=28.52;VQSLOD=8.0877;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2115,166,0 4 169336662 169336662 T C exonic DDX60L nonsynonymous SNV DDX60L:NM_001012967:exon22:c.A2876G:p.Y959C,DDX60L:NM_001291510:exon22:c.A2876G:p.Y959C,DDX60L:NM_001345927:exon22:c.A2876G:p.Y959C 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. . rs4692661 COSM4590183;COSM4590184 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2011.49 60 4 169336662 . T C 2011.49 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=33.52;VQSLOD=10.2021;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2044,157,0 4 169341435 169341435 A G exonic DDX60L nonsynonymous SNV DDX60L:NM_001012967:exon18:c.T2491C:p.C831R,DDX60L:NM_001291510:exon18:c.T2491C:p.C831R,DDX60L:NM_001345927:exon18:c.T2491C:p.C831R 0.98 0.95 0.99 1. 1. 1. 0.9951 0.9465 0.9966 1 1 0.9998 0.9978 0.9998 0.98 0.95 1. 0.96 . rs2130145 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.456 0.124 N 1 0.090 P -3.17 0.000 N 2.59 0.334 T 5.27 0.000 N 0.017 0.383 -1.004 0.287 T 0.000 0.000 T . . . -0.587 0.051 0.134 0.156 0.004 0.000 0.003 N c -1.670 -1.548 0.997 0.351 0.651 0.465 0 1.53 0.221 0.798 0.265 -0.566 0.046 0.026 0.200 0.000 0.016 6.381 0.206 DEAD/DEAH box helicase domain|Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase;Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase . . 0.9960 0.9466 0.9970 1 0.9999 1 0.9998 0.9959 0.9999 0.9852 0.9494 0.9916 1 1 1 0.9995 0.9969 hom 913.31 32 4 169341435 . A G 913.31 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.95;MQ0=0;QD=28.54;VQSLOD=8.0082;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.22:946,81,0 4 169369820 169369820 T A exonic DDX60L synonymous SNV DDX60L:NM_001012967:exon9:c.A1107T:p.I369I,DDX60L:NM_001291510:exon9:c.A1107T:p.I369I,DDX60L:NM_001345927:exon9:c.A1107T:p.I369I 0.82 0.77 0.82 0.91 0.8 0.83 0.8137 0.7807 0.8167 0.8890 0.8730 0.7962 0.8325 0.8357 0.78 0.77 0.79 0.78 . rs2712113 COSM5959996;COSM5959997 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8038 0.7695 0.7958 0.7903 0.8885 0.8649 0.7795 0.7952 0.8283 0.8037 0.7681 0.8165 0.7815 0.8937 0.8640 0.7995 0.8157 het 201.21 26 4 169369820 . T A 201.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.528;DP=26;Dels=0.00;FS=2.764;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.806;QD=7.74;ReadPosRankSum=-0.528;VQSLOD=5.2178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,8:26:99:231,0,516 4 169369853 169369853 A T exonic DDX60L synonymous SNV DDX60L:NM_001012967:exon9:c.T1074A:p.S358S,DDX60L:NM_001291510:exon9:c.T1074A:p.S358S,DDX60L:NM_001345927:exon9:c.T1074A:p.S358S 0.74 0.47 0.79 0.91 0.8 0.83 0.7836 0.5257 0.7909 0.8919 0.8687 0.7840 0.8148 0.8332 0.7 0.53 0.78 0.62 . rs2712114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7841 0.5110 0.7812 0.7517 0.8916 0.8659 0.7797 0.7797 0.8284 0.7290 0.5109 0.7931 0.7384 0.8937 0.8644 0.7978 0.8031 het 478.53 48 4 169369853 . A T 478.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.464;DP=48;Dels=0.00;FS=3.118;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=-0.864;QD=9.97;ReadPosRankSum=-0.148;VQSLOD=5.5018;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,19:48:99:509,0,822 4 169432673 169432673 C T exonic PALLD synonymous SNV PALLD:NM_001166108:exon2:c.C18T:p.S6S,PALLD:NM_016081:exon2:c.C18T:p.S6S 0.18 0.23 0.14 0.19 0.2 0.14 0.1943 0.2310 0.1475 0.1792 0.2051 0.2117 0.2004 0.1378 0.22 0.23 0.21 0.2 0.19 rs61051061 COSM3760473 1(skin);1(large_intestine) Benign Carcinoma_of_pancreas RCV000348927.1 MeSH:MedGen:OMIM:Orphanet:SNOMED_CT C562463:C0235974:260350:ORPHA217074:372142002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1894 0.2257 0.1487 0.2421 0.1723 0.2046 0.2059 0.2082 0.1351 0.2047 0.2269 0.1687 0.2550 0.1640 0.1999 0.1989 0.1959 het 1791.17 188 4 169432673 . C T 1791.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.117;DP=188;Dels=0.00;FS=0.565;HRun=0;HaplotypeScore=4.4878;MQ=58.98;MQ0=0;MQRankSum=0.744;QD=9.53;ReadPosRankSum=-1.308;VQSLOD=5.2726;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:117,71:188:99:1821,0,2923 4 169432841 169432841 G A exonic PALLD synonymous SNV PALLD:NM_001166108:exon2:c.G186A:p.K62K,PALLD:NM_016081:exon2:c.G186A:p.K62K 0.24 0.22 0.18 0.19 0.33 0.24 0.2841 0.2337 0.1756 0.1785 0.4053 0.3258 0.2908 0.2296 0.29 0.24 0.32 0.24 0.2 rs1806729 . . Benign|Benign Carcinoma_of_pancreas|not_specified RCV000295176.1|RCV000454887.1 MeSH:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C562463:C0235974:260350:ORPHA217074:372142002|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2806 0.2303 0.1783 0.2995 0.1731 0.3988 0.3240 0.2977 0.2253 0.3009 0.2344 0.2076 0.2815 0.1681 0.3892 0.3378 0.3194 het 633.12 61 4 169432841 . G A 633.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.596;DP=61;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.4450;MQ=60.00;MQ0=0;MQRankSum=-0.309;QD=10.38;ReadPosRankSum=-0.174;VQSLOD=5.5852;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,25:61:99:663,0,1015 4 169433326 169433326 T C exonic PALLD nonsynonymous SNV PALLD:NM_001166108:exon2:c.T671C:p.M224T,PALLD:NM_016081:exon2:c.T671C:p.M224T 0.24 0.24 0.18 0.19 0.33 0.24 0.2852 0.2483 0.1752 0.1793 0.4050 0.3263 0.2907 0.2267 0.28 0.24 0.3 . 0.19 rs7655494 . . Benign not_specified RCV000455304.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.157 0.178 N 1 0.192 P -2.585 0.000 N 0.14 0.622 T 1.03 0.014 N 0.023 0.006 -1.015 0.254 T 0.000 0.000 T . . . -2.123 0.006 0.001 0.607 0.064 0.019 0.057 N c -1.479 -1.347 1.000 0.747 0.556 0.300 0 3.67 0.411 0.328 0.193 -0.397 0.063 0.000 0.063 0.059 0.170 1.752 0.028 . ENSG00000181381.9 Lung 0.2815 0.2461 0.1789 0.2992 0.1747 0.3989 0.3244 0.2977 0.2225 0.3014 0.2472 0.2069 0.2815 0.1710 0.3876 0.3317 0.3163 het 1654.54 169 4 169433326 . T C 1654.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.513;DP=169;Dels=0.00;FS=0.594;HRun=0;HaplotypeScore=1.7753;MQ=56.86;MQ0=0;MQRankSum=-0.323;QD=9.79;ReadPosRankSum=1.120;VQSLOD=4.1170;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,67:169:99:1685,0,2867 4 169433327 169433327 G A exonic PALLD nonsynonymous SNV PALLD:NM_001166108:exon2:c.G672A:p.M224I,PALLD:NM_016081:exon2:c.G672A:p.M224I 0.24 0.24 0.18 0.19 0.33 0.24 0.2852 0.2483 0.1747 0.1790 0.4051 0.3264 0.2907 0.2267 0.28 0.24 0.31 . 0.19 rs7671781 . . Benign not_specified RCV000455960.1 MedGen CN169374 . . . . . . 0.208 0.198 T 0.0 0.026 B 0.0 0.013 B 0.157 0.178 N 1 0.186 P 0 0.065 N 0.18 0.616 T -0.09 0.127 N 0.026 0.008 -1.071 0.091 T 0.000 0.000 T . . . -1.837 0.010 0.002 0.797 0.124 0.048 0.104 N c -2.154 -2.262 1.000 0.747 0.556 0.300 0 -10.8 0.002 -4.944 0.002 -1.551 0.010 0.000 0.063 0.009 0.108 2.980 0.055 . ENSG00000181381.9 Lung 0.2814 0.2461 0.1786 0.2992 0.1742 0.3988 0.3244 0.2978 0.2225 0.3013 0.2468 0.2074 0.2815 0.1702 0.3879 0.3318 0.3163 het 1610.85 165 4 169433327 . G A 1610.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.489;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7753;MQ=56.78;MQ0=0;MQRankSum=0.362;QD=9.76;ReadPosRankSum=1.222;VQSLOD=3.4602;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:100,65:165:99:1641,0,2941 4 169433333 169433333 C T exonic PALLD synonymous SNV PALLD:NM_001166108:exon2:c.C678T:p.D226D,PALLD:NM_016081:exon2:c.C678T:p.D226D 0.24 0.24 0.18 0.19 0.33 0.24 0.2851 0.2485 0.1749 0.1787 0.4050 0.3263 0.2907 0.2267 0.3 0.25 0.33 0.25 0.18 rs7673220 . . Benign|Benign Carcinoma_of_pancreas|not_specified RCV000305338.1|RCV000454895.1 MeSH:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C562463:C0235974:260350:ORPHA217074:372142002|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2812 0.2460 0.1787 0.2988 0.1742 0.3989 0.3242 0.2977 0.2225 0.3010 0.2463 0.2069 0.2815 0.1700 0.3881 0.3315 0.3160 het 1453.74 157 4 169433333 . C T 1453.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.841;DP=157;Dels=0.00;FS=3.067;HRun=0;HaplotypeScore=2.9858;MQ=56.74;MQ0=0;MQRankSum=1.190;QD=9.26;ReadPosRankSum=0.756;VQSLOD=3.9269;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,62:157:99:1484,0,2662 4 169433444 169433444 C T exonic PALLD synonymous SNV PALLD:NM_001166108:exon2:c.C789T:p.S263S,PALLD:NM_016081:exon2:c.C789T:p.S263S 0.057 0.019 0.078 . 0.12 0.092 0.1049 0.0410 0.0619 0.0001 0.1242 0.1393 0.1194 0.0829 0.1 0.043 0.14 0.033 0.12 rs72695199 COSM3760475;COSM3760474 1(large_intestine) Benign Carcinoma_of_pancreas RCV000306330.1 MeSH:MedGen:OMIM:Orphanet:SNOMED_CT C562463:C0235974:260350:ORPHA217074:372142002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1024 0.0372 0.0633 0.1699 0.0002 0.1211 0.1341 0.1277 0.0814 0.0931 0.0384 0.0800 0.1689 0 0.1165 0.1266 0.1255 het 1593.89 131 4 169433444 . C T 1593.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.539;DP=131;Dels=0.00;FS=1.408;HRun=0;HaplotypeScore=1.6637;MQ=59.51;MQ0=0;MQRankSum=-0.021;QD=12.17;ReadPosRankSum=0.222;VQSLOD=6.1617;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,60:131:99:1624,0,1781 4 169835134 169835134 A G exonic PALLD synonymous SNV PALLD:NM_001166110:exon7:c.A1167G:p.R389R,PALLD:NM_001166109:exon14:c.A1482G:p.R494R,PALLD:NM_016081:exon15:c.A2628G:p.R876R,PALLD:NM_001166108:exon16:c.A2679G:p.R893R 0.11 0.2 0.13 0.028 0.1 0.039 0.0927 0.1985 0.0690 0.0347 0.0472 0.1033 0.0958 0.0480 0.14 0.2 0.11 0.12 0.049 rs1059444 COSM4005712;COSM4005713 1(breast);1(urinary_tract) Benign Carcinoma_of_pancreas RCV000312336.1 MeSH:MedGen:OMIM:Orphanet:SNOMED_CT C562463:C0235974:260350:ORPHA217074:372142002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0910 0.1993 0.0688 0.1846 0.0350 0.0461 0.1021 0.1103 0.0516 0.1152 0.1996 0.0781 0.19 0.0407 0.0507 0.0925 0.0733 het 2553.29 180 4 169835134 . A G 2553.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.326;DP=180;Dels=0.00;FS=2.714;HRun=1;HaplotypeScore=2.4274;MQ=59.62;MQ0=0;MQRankSum=0.196;QD=14.18;ReadPosRankSum=-0.627;VQSLOD=6.2478;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,99:180:99:2583,0,2021 4 170477125 170477125 G A exonic NEK1 nonsynonymous SNV NEK1:NM_001199399:exon16:c.C1313T:p.A438V,NEK1:NM_001199400:exon16:c.C1388T:p.A463V,NEK1:NM_012224:exon16:c.C1388T:p.A463V,NEK1:NM_001199397:exon17:c.C1388T:p.A463V,NEK1:NM_001199398:exon17:c.C1388T:p.A463V 0.016 0.0008 0.032 . 0.05 0.0082 0.0351 0.0105 0.0223 0 0.0195 0.0522 0.0323 0.0145 0.043 0.01 0.057 0.022 . rs34540355 . . Likely benign|Benign Short_Rib_Polydactyly_Syndrome|not_specified RCV000293366.1|RCV000428150.1 MedGen|MedGen C0036996|CN169374 . . . . . . 0.245 0.181 T 0.002 0.154 B 0.005 0.214 B 0.009 0.308 N 0.984 0.258 N 0.92 0.235 L -0.38 0.694 T -0.78 0.227 N 0.025 0.026 -1.030 0.206 T 0.034 0.147 T . . . 1.679 0.263 14.29 0.979 0.359 0.594 0.306 D c -0.403 -0.323 0.950 0.278 0.741 0.978 0 3.95 0.448 1.554 0.356 0.108 0.203 0.791 0.294 0.957 0.436 9.261 0.366 . . . 0.0356 0.0096 0.0241 0.0224 0 0.0190 0.0579 0.0421 0.0150 0.0322 0.0093 0.0310 0.0132 0 0.0200 0.0522 0.0338 het 765.76 72 4 170477125 . G A 765.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.120;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5777;MQ=58.18;MQ0=0;MQRankSum=1.390;QD=10.64;ReadPosRankSum=-1.062;VQSLOD=5.1508;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,33:72:99:796,0,1019 4 170663235 170663235 C T exonic HPF1 nonsynonymous SNV HPF1:NM_017867:exon5:c.G521A:p.R174K 0.79 0.67 0.85 0.91 0.82 0.75 0.8177 0.6978 0.9017 0.9203 0.8418 0.8190 0.8256 0.7645 0.78 0.71 0.82 0.79 0.53 rs1047642 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -2.9 0.000 N 1.21 0.372 T 2.09 0.004 N 0.021 0.005 -0.964 0.385 T 0.000 0.000 T . . . 0.238 0.117 5.078 0.294 0.016 0.093 0.149 N c -1.084 -0.805 0.033 0.141 0.732 0.924 0 4.63 0.570 3.583 0.534 0.090 0.195 1.000 0.715 0.967 0.454 10.439 0.434 . ENSG00000056050.6|ENSG00000137601.11 Esophagus_Mucosa|Thyroid 0.8229 0.6952 0.8971 0.8132 0.9219 0.8388 0.8177 0.8300 0.7592 0.7961 0.6975 0.8744 0.8146 0.9185 0.8329 0.8249 0.8255 hom 1533.43 49 4 170663235 . C T 1533.43 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;QD=31.29;VQSLOD=9.7097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1566,120,0 4 170678993 170678993 T C exonic HPF1 synonymous SNV HPF1:NM_017867:exon1:c.A36G:p.G12G 0.78 0.69 0.8 0.88 0.78 0.77 0.8033 0.7365 0.8677 0.8909 0.8574 0.8105 0.7781 0.7333 0.78 0.71 0.81 0.76 0.057 rs11540095 COSM3749861 10(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7947 0.6871 0.8496 0.7703 0.8877 0.8464 0.7911 0.7824 0.7253 0.7839 0.6876 0.8301 0.7852 0.8784 0.8451 0.8105 0.8184 hom 269.79 10 4 170678993 . T C 269.79 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=55.01;MQ0=0;QD=26.98;VQSLOD=7.8314;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:303,24,0 4 174090004 174090004 G A exonic GALNT7 synonymous SNV GALNT7:NM_017423:exon1:c.G18A:p.G6G 0.64 0.58 0.52 0.72 0.7 0.66 0.6615 0.6202 0.4368 0.6880 0.7277 0.6882 0.6667 0.6954 0.65 0.61 0.68 0.033 0.58 rs3733477 COSM4158914 4(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6543 0.6182 0.4522 0.7386 0.6878 0.7152 0.6847 0.6590 0.6924 0.6713 0.6229 0.4855 0.7852 0.7021 0.7211 0.6912 0.6923 hom 1020.69 37 4 174090004 . G A 1020.69 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=27.59;VQSLOD=8.1343;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:90.24:1054,90,0 4 174253333 174253333 G A exonic HMGB2 synonymous SNV HMGB2:NM_001130689:exon4:c.C528T:p.G176G,HMGB2:NM_001130688:exon5:c.C528T:p.G176G,HMGB2:NM_002129:exon5:c.C528T:p.G176G . . . . . . . . . . . . . . . . . . . . COSM6053231 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1250.80 108 4 174253333 . G A 1250.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.479;DP=108;Dels=0.00;FS=2.640;HRun=0;HaplotypeScore=4.3768;MQ=58.73;MQ0=0;MQRankSum=1.118;QD=11.58;ReadPosRankSum=-0.779;VQSLOD=3.8783;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,50:108:99:1281,0,1488 4 175225452 175225452 G A exonic CEP44 nonsynonymous SNV CEP44:NM_001040157:exon6:c.G439A:p.G147S,CEP44:NM_001145314:exon6:c.G439A:p.G147S 0.44 0.58 0.32 0.16 0.55 0.52 0.4810 0.5787 0.2453 0.1476 0.4882 0.5386 0.4945 0.5227 0.55 0.57 0.54 0.51 0.52 rs4695918 COSM5482495;COSM4002999 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.380 0.134 N 1 0.090 P -1.83 0.003 N 1.08 0.400 T 1.51 0.009 N 0.009 0.001 -0.916 0.461 T 0.000 0.000 T . . . -1.574 0.015 0.002 0.290 0.015 0.004 0.020 N c -1.711 -1.631 0.003 0.099 0.638 0.428 0 0.671 0.170 0.282 0.184 -1.204 0.016 0.000 0.063 0.000 0.016 8.849 0.342 . ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Pituitary|Prostate|Spleen|Stomach|Thyroid 0.4686 0.5761 0.2532 0.4797 0.1561 0.4923 0.5455 0.4926 0.5179 0.5145 0.5614 0.3169 0.5199 0.1722 0.4893 0.5429 0.4856 het 1340.17 111 4 175225452 . G A 1340.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.658;DP=111;Dels=0.00;FS=0.723;HRun=0;HaplotypeScore=2.7374;MQ=58.39;MQ0=0;MQRankSum=0.510;QD=12.07;ReadPosRankSum=0.959;VQSLOD=6.0125;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,54:111:99:1370,0,1404 4 175237408 175237408 T C exonic CEP44 synonymous SNV CEP44:NM_001040157:exon10:c.T1053C:p.T351T,CEP44:NM_001145314:exon10:c.T1053C:p.T351T 0.69 0.7 0.56 0.74 0.74 0.64 0.6860 0.7007 0.4580 0.7466 0.6391 0.7284 0.6949 0.6515 0.72 0.7 0.73 0.71 0.7 rs1553669 COSM149763 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6765 0.6984 0.4726 0.6785 0.7462 0.6437 0.7364 0.7019 0.6502 0.6993 0.6941 0.5609 0.7219 0.7590 0.6430 0.7185 0.6660 het 2588.55 178 4 175237408 . T C 2588.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.532;DP=178;Dels=0.00;FS=4.441;HRun=1;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;MQRankSum=0.853;QD=14.54;ReadPosRankSum=0.734;VQSLOD=6.2498;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,107:178:99:2619,0,1666 4 175443156 175443156 C T exonic HPGD synonymous SNV HPGD:NM_000860:exon2:c.G156A:p.Q52Q,HPGD:NM_001145816:exon2:c.G156A:p.Q52Q,HPGD:NM_001256305:exon2:c.G156A:p.Q52Q,HPGD:NM_001256306:exon2:c.G156A:p.Q52Q 0.34 0.26 0.32 0.46 0.41 0.27 0.3862 0.2697 0.3183 0.4230 0.4067 0.4312 0.4371 0.2948 0.38 0.27 0.43 0.37 0.39 rs1050145 COSM1131179 1(prostate) Benign|Benign Pachydermoperiostosis_syndrome|Digital_clubbing\x2c_isolated_congenital RCV000311547.1|RCV000368531.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM C0029411:259100:ORPHA248095:88220006|C1861514:119900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3835 0.2703 0.3199 0.3613 0.4219 0.4112 0.4326 0.3783 0.2977 0.3813 0.2766 0.3150 0.3543 0.4262 0.3906 0.4380 0.4041 het 4032.17 249 4 175443156 . C T 4032.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.955;DP=249;DS;Dels=0.00;FS=1.549;HRun=1;HaplotypeScore=3.5483;MQ=59.51;MQ0=0;MQRankSum=-0.712;QD=16.19;ReadPosRankSum=-0.112;VQSLOD=5.9415;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:125,124:249:99:3378,0,3586 4 175598334 175598334 T C exonic GLRA3 synonymous SNV GLRA3:NM_001042543:exon7:c.A822G:p.S274S,GLRA3:NM_006529:exon7:c.A822G:p.S274S 0.98 0.91 0.99 1. 1. 1. 0.9931 0.9262 0.9968 1 1 0.9996 0.9978 0.9998 0.98 0.93 1. 0.98 0.98 rs6812439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9946 0.9270 0.9969 0.9982 1 1 0.9996 0.9956 0.9996 0.9796 0.9284 0.9976 1 1 1 0.9999 0.9959 hom 2789.78 92 4 175598334 . T C 2789.78 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=30.32;VQSLOD=8.6480;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2823,232,0 4 175688138 175688138 A G exonic GLRA3 synonymous SNV GLRA3:NM_001042543:exon3:c.T243C:p.F81F,GLRA3:NM_006529:exon3:c.T243C:p.F81F 0.79 0.67 0.73 1. 0.74 0.83 0.7763 0.7031 0.6932 0.9968 0.7738 0.7665 0.7830 0.8047 0.68 0.67 0.68 0.76 0.75 rs7696263 COSM3760485 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7730 0.6991 0.6863 0.7859 0.9971 0.7744 0.7650 0.7612 0.8045 0.7593 0.6921 0.7007 0.77 0.9975 0.7764 0.7692 0.7996 hom 3233.06 115 4 175688138 . A G 3233.06 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.59;MQ0=0;QD=28.11;VQSLOD=8.1002;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3266,256,0 4 175688141 175688141 G A exonic GLRA3 synonymous SNV GLRA3:NM_001042543:exon3:c.C240T:p.S80S,GLRA3:NM_006529:exon3:c.C240T:p.S80S 0.34 0.11 0.32 0.52 0.37 0.43 0.3528 0.1298 0.2809 0.4987 0.3901 0.3532 0.4053 0.4475 0.052 0.012 0.072 0.26 0.29 rs12651268 COSM3760486 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3497 0.1238 0.2842 0.3081 0.4928 0.3861 0.3501 0.3586 0.4385 0.2957 0.1293 0.2964 0.32 0.5124 0.3808 0.3444 0.3661 het 1218.87 116 4 175688141 . G A 1218.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.958;DP=116;Dels=0.00;FS=1.503;HRun=3;HaplotypeScore=0.8667;MQ=58.60;MQ0=0;MQRankSum=-0.030;QD=10.51;ReadPosRankSum=-0.551;VQSLOD=5.8850;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,54:116:99:1249,0,1606 4 177073026 177073026 G A exonic WDR17 nonsynonymous SNV WDR17:NM_181265:exon17:c.G2368A:p.A790T,WDR17:NM_001350727:exon18:c.G2440A:p.A814T,WDR17:NM_170710:exon18:c.G2440A:p.A814T 0.98 0.92 0.99 1. 1. 1. 0.9935 0.9334 0.9955 1 1 0.9995 0.9934 0.9998 0.98 0.94 1. 0.95 0.95 rs4690661 . . . . . . . . . . . . . 0.834 0.029 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.208 P -1.95 0.002 N 0.51 0.558 T 0.39 0.035 N 0.034 0.176 -0.950 0.409 T 0.000 0.000 T . . . 1.645 0.259 14.10 0.235 0.010 0.214 0.212 N c -0.387 -0.243 0.997 0.352 0.638 0.428 0 5.55 0.832 5.863 0.691 0.244 0.267 1.000 0.715 0.312 0.239 11.643 0.503 . . . 0.9947 0.9326 0.9955 0.9997 1 1 0.9993 0.9956 0.9998 0.9814 0.9359 0.9940 1 1 1 0.9994 0.9959 hom 3446.59 127 4 177073026 . G A 3446.59 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.37;MQ0=1;QD=27.14;VQSLOD=7.4776;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3446,268,0 4 177082069 177082069 G C exonic WDR17 nonsynonymous SNV WDR17:NM_181265:exon20:c.G2666C:p.C889S,WDR17:NM_001350727:exon21:c.G2738C:p.C913S,WDR17:NM_170710:exon21:c.G2738C:p.C913S 0.19 0.14 0.14 0.17 0.25 0.26 0.2218 0.1515 0.1106 0.1447 0.2473 0.2460 0.2434 0.2755 0.23 0.16 0.26 0.17 0.12 rs7693453 COSM3760488 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.462 0.098 T 0.381 0.405 B 0.064 0.334 B 0.000 0.843 D 0.000 0.588 P 2.085 0.579 M 0.5 0.563 T -0.84 0.229 N 0.374 0.435 -1.099 0.042 T 0.000 0.000 T . . . 1.487 0.241 13.24 0.672 0.080 0.968 0.710 D c -0.019 -0.002 0.786 0.239 0.554 0.246 0 2.79 0.317 4.495 0.598 0.108 0.203 1.000 0.715 0.985 0.512 13.571 0.611 . . . 0.2207 0.1530 0.1160 0.2969 0.1396 0.2419 0.2457 0.2359 0.2759 0.2153 0.1593 0.1659 0.3146 0.1174 0.2540 0.2496 0.2240 het 779.88 72 4 177082069 . G C 779.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.210;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7653;MQ=58.30;MQ0=0;MQRankSum=1.422;QD=10.83;ReadPosRankSum=-0.663;VQSLOD=5.7591;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,32:72:99:810,0,984 4 177100644 177100644 G A exonic WDR17 nonsynonymous SNV WDR17:NM_181265:exon29:c.G3766A:p.A1256T,WDR17:NM_001350727:exon31:c.G3859A:p.A1287T,WDR17:NM_170710:exon31:c.G3883A:p.A1295T 0.21 0.14 0.21 0.13 0.28 0.31 0.2547 0.1506 0.1807 0.1215 0.2399 0.2829 0.2698 0.3329 0.25 0.15 0.3 0.21 0.33 rs11736872 . . . . . . . . . . . . . 0.41 0.109 T 0.02 0.170 B 0.009 0.133 B 0.002 0.379 N 0.002 0.442 P 1.61 0.413 L 0.37 0.580 T -0.81 0.223 N 0.042 0.275 -0.962 0.389 T 0.000 0.000 T . . . 2.021 0.304 16.34 0.949 0.252 0.377 0.256 N c -0.493 -0.521 0.010 0.119 0.554 0.246 0 -0.869 0.101 0.627 0.240 -0.554 0.047 0.233 0.245 0.973 0.468 10.613 0.444 . . . 0.2505 0.1442 0.1813 0.3234 0.1133 0.2362 0.2811 0.2576 0.3282 0.2361 0.1503 0.2120 0.3 0.1038 0.2475 0.2958 0.2675 het 1605.06 149 4 177100644 . G A 1605.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.812;DP=149;Dels=0.00;FS=3.881;HRun=0;HaplotypeScore=3.5587;MQ=58.25;MQ0=0;MQRankSum=0.230;QD=10.77;ReadPosRankSum=-0.450;VQSLOD=5.2827;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,71:149:99:1635,0,1904 4 177113779 177113779 T C exonic SPATA4 synonymous SNV SPATA4:NM_144644:exon4:c.A687G:p.P229P 0.36 0.27 0.24 0.61 0.31 0.38 0.3222 0.2867 0.2370 0.6063 0.3098 0.3078 0.3322 0.3173 0.3 0.29 0.31 0.3 0.21 rs12502935 COSM3760490 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3186 0.2835 0.2369 0.3541 0.6066 0.3105 0.3027 0.3229 0.3146 0.3073 0.2818 0.2554 0.3709 0.6134 0.3129 0.2904 0.2914 het 357.65 33 4 177113779 . T C 357.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.666;DP=33;Dels=0.00;FS=5.871;HRun=2;HaplotypeScore=3.9929;MQ=58.73;MQ0=0;MQRankSum=0.450;QD=10.84;ReadPosRankSum=0.270;VQSLOD=5.1532;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,16:33:99:388,0,520 4 177113956 177113956 A G exonic SPATA4 synonymous SNV SPATA4:NM_144644:exon4:c.T510C:p.Y170Y 0.23 0.16 0.16 0.38 0.18 0.26 0.1986 0.1662 0.1662 0.3575 0.1950 0.1831 0.2069 0.2220 0.17 0.17 0.17 0.13 0.09 rs2291244 COSM4003002 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1942 0.1639 0.1611 0.1514 0.3581 0.1953 0.1794 0.1958 0.2200 0.1789 0.1603 0.1551 0.1589 0.3541 0.1871 0.1699 0.1894 het 760.38 51 4 177113956 . A G 760.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.919;DP=51;Dels=0.00;FS=1.172;HRun=0;HaplotypeScore=0.0000;MQ=57.97;MQ0=0;MQRankSum=0.890;QD=14.91;ReadPosRankSum=-0.603;VQSLOD=4.9434;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,30:51:99:790,0,519 4 177137988 177137988 C T exonic ASB5 synonymous SNV ASB5:NM_080874:exon6:c.G843A:p.R281R 0.52 0.52 0.55 0.57 0.48 0.47 0.5023 0.4987 0.5591 0.5833 0.5625 0.4780 0.5458 0.4931 0.48 0.5 0.48 0.48 0.52 rs6827525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4990 0.4964 0.5489 0.4552 0.5778 0.5614 0.4719 0.4984 0.4690 0.5024 0.5104 0.5084 0.4603 0.5549 0.5641 0.4773 0.5143 hom 4523.40 143 4 177137988 . C T 4523.40 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9326;MQ=59.25;MQ0=0;QD=31.63;VQSLOD=9.7247;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:143:99:4523,355,0 4 177605082 177605084 TCA - exonic VEGFC nonframeshift deletion VEGFC:NM_005429:exon7:c.1256_1258del:p.M419del 1. 0.99 1. 1. 1. 1. 0.9990 0.9880 0.9999 1 1 1.0000 1 1 1. 0.99 1. . . rs5864401 COSM5713112 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9872 0.9995 1 1 1 1.0000 1 1 0.9958 0.9852 1 1 1 1 1 1 hom 6738.01 148 4 177605081 . CTCA C 6738.01 Mask AC=2;AF=1.00;AN=2;DP=148;FS=0.000;HRun=0;HaplotypeScore=633.8262;MQ=56.79;MQ0=0;QD=45.53;set=variant2 GT:AD:DP:GQ:PL 1/1:9,139:148:99:6738,418,0 4 178262784 178262784 A G exonic NEIL3 nonsynonymous SNV NEIL3:NM_018248:exon6:c.A857G:p.H286R 0.091 0.0053 0.053 0.1 0.16 0.15 0.1284 0.0259 0.0574 0.0951 0.1308 0.1527 0.1171 0.1628 0.11 0.027 0.15 0.043 0.098 rs34193982 COSM4418928;COSM4418927 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.683 0.044 T 0.0 0.026 B 0.001 0.040 B 0.634 0.107 N 1 0.090 P 1.885 0.502 L 3.83 0.037 T -0.78 0.216 N 0.016 0.013 -0.900 0.481 T 0.000 0.000 T . . . -0.183 0.077 1.191 0.762 0.110 0.064 0.122 N c -0.969 -1.015 0.990 0.318 0.615 0.372 0 -4.55 0.032 0.252 0.179 0.237 0.263 0.016 0.191 0.978 0.483 0.015 0.000 . . . 0.1229 0.0245 0.0556 0.1351 0.0896 0.1207 0.1523 0.1163 0.1568 0.1115 0.0284 0.0837 0.1689 0.0773 0.1236 0.1594 0.1376 het 981.53 63 4 178262784 . A G 981.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.335;DP=63;Dels=0.00;FS=3.696;HRun=0;HaplotypeScore=2.6971;MQ=59.04;MQ0=0;MQRankSum=1.611;QD=15.58;ReadPosRankSum=0.021;VQSLOD=5.4821;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,35:63:99:1012,0,694 4 178274565 178274565 A G exonic NEIL3 synonymous SNV NEIL3:NM_018248:exon8:c.A1143G:p.R381R 0.61 0.67 0.63 0.38 0.78 0.58 0.6907 0.6938 0.6597 0.4010 0.7506 0.7555 0.6903 0.5757 0.74 0.7 0.76 0.7 0.75 rs2048074 COSM3760494 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6924 0.6933 0.6764 0.7347 0.3960 0.7528 0.7591 0.6888 0.5771 0.7119 0.6957 0.7026 0.7682 0.3804 0.7453 0.7494 0.6988 hom 2547.09 76 4 178274565 . A G 2547.09 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=33.51;VQSLOD=10.2124;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2580,205,0 4 178274694 178274694 T G exonic NEIL3 synonymous SNV NEIL3:NM_018248:exon8:c.T1272G:p.V424V 0.54 0.44 0.61 0.38 0.76 0.57 0.6661 0.4898 0.6443 0.4006 0.7451 0.7475 0.6788 0.5702 0.67 0.5 0.75 0.56 0.72 rs10007075 COSM3760495 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6715 0.4865 0.6596 0.7320 0.3957 0.7471 0.7503 0.6706 0.5714 0.6496 0.4904 0.6851 0.77 0.3833 0.7401 0.7430 0.6835 hom 2168.91 79 4 178274694 . T G 2168.91 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;QD=27.45;VQSLOD=7.9897;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2202,163,0 4 178274750 178274750 C T exonic NEIL3 nonsynonymous SNV NEIL3:NM_018248:exon8:c.C1328T:p.P443L 0.61 0.67 0.63 0.38 0.77 0.58 0.6899 0.6930 0.6585 0.3993 0.75 0.7549 0.6894 0.5753 0.74 0.7 0.76 0.7 0.72 rs13112358 COSM3760496 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.686 0.043 T 0.0 0.026 B 0.001 0.040 B 0.822 0.069 N 1 0.090 P 0.485 0.132 N 3.84 0.037 T -0.36 0.131 N 0.007 0.000 -1.000 0.300 T 0.000 0.000 T . . . -0.693 0.045 0.075 0.666 0.079 0.010 0.039 N c -1.635 -1.645 0.984 0.307 0.615 0.372 0 -4.99 0.028 -0.395 0.073 -0.563 0.046 0.000 0.063 0.715 0.313 16.941 0.860 . . . 0.6920 0.6928 0.6760 0.7348 0.3956 0.7525 0.7586 0.6884 0.5768 0.7119 0.6950 0.7050 0.7682 0.3794 0.7447 0.7498 0.6996 hom 2404.59 78 4 178274750 . C T 2404.59 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=59.70;MQ0=0;QD=30.83;VQSLOD=9.3030;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2438,190,0 4 178274835 178274835 A C exonic NEIL3 nonsynonymous SNV NEIL3:NM_018248:exon8:c.A1413C:p.Q471H 0.66 0.71 0.71 0.45 0.8 0.64 0.7337 0.7241 0.7344 0.4553 0.7697 0.7885 0.7335 0.6490 0.77 0.73 0.79 0.72 0.76 rs13112390 COSM1131168;COSM1428751 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.642 0.050 T 0.0 0.026 B 0.0 0.013 B 0.000 0.463 N 1 0.090 P -2.515 0.001 N 3.81 0.038 T 1.51 0.007 N 0.032 0.034 -1.063 0.111 T 0.000 0.000 T . . . -0.597 0.050 0.127 0.580 0.058 0.002 0.010 N c -1.681 -1.617 0.703 0.227 0.615 0.372 0 -1.15 0.092 -0.052 0.117 -0.321 0.076 0.002 0.151 0.022 0.137 1.402 0.021 . . . 0.7365 0.7221 0.7479 0.7756 0.4532 0.7742 0.7913 0.7354 0.6510 0.7413 0.7233 0.7691 0.8013 0.4387 0.7638 0.7772 0.7300 hom 3007.25 105 4 178274835 . A C 3007.25 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.699;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5572;MQ=56.89;MQ0=0;MQRankSum=1.072;QD=28.64;ReadPosRankSum=-0.148;VQSLOD=4.2871;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,104:105:99:3040,229,0 4 178281754 178281754 G A exonic NEIL3 nonsynonymous SNV NEIL3:NM_018248:exon9:c.G1558A:p.G520R 0.93 0.89 0.95 0.97 0.97 0.89 0.9539 0.9098 0.9407 0.9780 0.9809 0.9671 0.9780 0.9128 0.95 0.91 0.97 0.96 0.96 rs1876268 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.486 N 1.000 0.090 P -2.8 0.000 N 2.24 0.179 T 2.34 0.003 N 0.04 0.208 -0.977 0.357 T 0.000 0.000 T . . . 0.752 0.166 9.165 0.625 0.068 0.318 0.242 N c -1.043 -0.730 0.979 0.299 0.615 0.372 0 4.74 0.596 2.951 0.485 -0.689 0.038 1.000 0.715 0.398 0.254 9.011 0.351 Zinc finger\x2c GRF-type . . 0.9559 0.9069 0.9462 0.9939 0.9771 0.9811 0.9652 0.9644 0.9134 0.9510 0.9044 0.9605 0.9901 0.9833 0.9791 0.9657 0.9664 hom 3778.41 116 4 178281754 . G A 3778.41 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7005;MQ=59.36;MQ0=0;QD=32.57;VQSLOD=8.9660;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3778,292,0 4 178359960 178359960 G C exonic AGA nonsynonymous SNV AGA:NM_000027:exon4:c.C446G:p.T149S,AGA:NM_001171988:exon4:c.C446G:p.T149S 0.92 0.71 0.97 1. 1. 1. 0.9782 0.7642 0.9877 0.9999 1 0.9994 0.9879 0.9999 0.93 0.78 1. 0.87 0.93 rs2228119 . . Benign|Benign not_specified|Aspartylglycosaminuria RCV000077944.5|RCV000394488.1 MedGen|MedGen:OMIM CN169374|C0268225:208400 . . . . . . 0.726 0.038 T 0.0 0.026 B 0.0 0.013 B 0.035 0.247 N 1 0.090 P -0.92 0.013 N -2.27 0.874 D 0.65 0.031 N 0.017 0.206 -0.973 0.366 T 0.000 0.000 T . . . -1.611 0.014 0.002 0.343 0.021 0.030 0.078 N c -1.858 -1.815 0.452 0.205 0.732 0.924 0 -4.65 0.031 -0.231 0.090 -0.849 0.029 0.000 0.063 0.042 0.158 9.189 0.362 Nucleophile aminohydrolases\x2c N-terminal . . 0.9828 0.7607 0.9873 0.9999 0.9999 1 0.9993 0.9880 0.9998 0.9338 0.7696 0.9797 1 1 1 0.9989 0.9878 hom 1237.46 46 4 178359960 . G C 1237.46 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;QD=26.90;VQSLOD=7.8516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:93.30:1270,93,0 4 183652175 183652175 T C exonic TENM3 synonymous SNV TENM3:NM_001080477:exon16:c.T2850C:p.D950D 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. . rs10866256 COSM4595156 1(upper_aerodigestive_tract) Benign not_specified RCV000249991.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 4235.42 138 4 183652175 . T C 4235.42 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=58.60;MQ0=0;QD=30.69;VQSLOD=8.1953;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:138:99:4235,322,0 4 183664522 183664522 T C exonic TENM3 synonymous SNV TENM3:NM_001080477:exon19:c.T3579C:p.Y1193Y 0.23 0.35 0.14 0.14 0.3 0.17 0.2631 0.3471 0.1274 0.1488 0.3197 0.3038 0.2695 0.1802 0.31 0.32 0.3 0.3 . rs7654255 COSM4003005 3(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign not_specified RCV000253118.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2566 0.3448 0.1338 0.2599 0.1527 0.3274 0.3039 0.2575 0.1804 0.3066 0.3394 0.1587 0.2815 0.1525 0.3289 0.3089 0.2908 het 1403.91 133 4 183664522 . T C 1403.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.312;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3957;MQ=59.55;MQ0=0;MQRankSum=0.332;QD=10.56;ReadPosRankSum=-0.418;VQSLOD=6.6409;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,60:133:99:1434,0,2032 4 183713573 183713573 C T exonic TENM3 synonymous SNV TENM3:NM_001080477:exon26:c.C5748T:p.N1916N 0.0044 . 0.0058 . 0.018 . 0.0132 0.0028 0.0060 0 0.0156 0.0203 0.0089 0.0019 0.014 0.0032 0.02 . . rs80197208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0131 0.0029 0.0052 0.0422 0 0.0137 0.0190 0.0155 0.0023 0.0118 0.0024 0.0084 0.0397 0 0.0149 0.0178 0.0071 het 1351.78 100 4 183713573 . C T 1351.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.862;DP=100;Dels=0.00;FS=4.766;HRun=0;HaplotypeScore=1.7825;MQ=59.21;MQ0=0;MQRankSum=-1.884;QD=13.52;ReadPosRankSum=0.179;VQSLOD=4.7514;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,53:100:99:1382,0,1205 4 183815688 183815688 A G exonic DCTD synonymous SNV DCTD:NM_001012732:exon4:c.T348C:p.V116V,DCTD:NM_001921:exon4:c.T315C:p.V105V,DCTD:NM_001351743:exon5:c.T315C:p.V105V,DCTD:NM_001351744:exon5:c.T315C:p.V105V,DCTD:NM_001351745:exon5:c.T315C:p.V105V,DCTD:NM_001351750:exon5:c.T315C:p.V105V,DCTD:NM_001351753:exon5:c.T315C:p.V105V,DCTD:NM_001351747:exon6:c.T315C:p.V105V,DCTD:NM_001351748:exon6:c.T315C:p.V105V 0.31 0.52 0.2 0.22 0.29 0.22 0.2947 0.5010 0.1277 0.2188 0.3462 0.3076 0.2841 0.2493 0.38 0.51 0.31 0.39 0.42 rs4742 COSM3760499 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2837 0.5044 0.1404 0.2359 0.2255 0.3347 0.3095 0.2706 0.2506 0.3584 0.4961 0.1850 0.2119 0.2330 0.3505 0.3098 0.3041 het 1172.24 94 4 183815688 . A G 1172.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.640;DP=94;Dels=0.00;FS=12.365;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;MQRankSum=0.223;QD=12.47;ReadPosRankSum=-0.359;VQSLOD=4.6958;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,48:94:99:1202,0,1292 4 184203886 184203886 G C exonic WWC2 nonsynonymous SNV WWC2:NM_024949:exon18:c.G2710C:p.D904H 0.25 0.2 0.41 0.24 0.26 0.23 0.3626 0.2934 0.5554 0.3706 0.3108 0.4051 0.3486 0.2481 0.26 0.22 0.29 0.3 . rs3814422 . . . . . . . . . . . . . 0.118 0.433 T 0.773 0.530 P 0.487 0.510 P 0.229 0.160 N 1 0.090 P 2.38 0.688 M 3.46 0.263 T -1.91 0.483 N 0.162 0.195 -0.947 0.416 T 0.000 0.000 T . . . 1.265 0.217 12.09 0.948 0.250 0.241 0.221 N c -0.572 -0.669 0.201 0.181 0.707 0.730 0 2.62 0.302 0.732 0.256 0.139 0.223 0.002 0.151 0.787 0.332 10.708 0.450 WW domain . . 0.2880 0.2150 0.4258 0.4296 0.2309 0.2311 0.2793 0.3177 0.2174 0.2500 0.2165 0.3816 0.3808 0.2092 0.2400 0.2654 0.2617 het 159.53 14 4 184203886 . G C 159.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.839;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.323;QD=11.40;ReadPosRankSum=0.581;VQSLOD=12.0688;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,6:14:99:190,0,211 4 184367559 184367561 CTG - exonic CDKN2AIP nonframeshift deletion CDKN2AIP:NM_017632:exon3:c.722_724del:p.A242del 0.36 0.12 0.42 0.24 0.72 0.4 0.5767 0.1957 0.3546 0.2543 0.7052 0.7349 0.6167 0.4484 0.56 0.21 0.73 0.033 . rs147291711 COSM5713113 3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5752 0.1911 0.3785 0.6212 0.2535 0.7052 0.7402 0.6017 0.4491 0.5483 0.1983 0.4317 0.6913 0.2462 0.7052 0.7440 0.6789 het 3017.86 119 4 184367558 . TCTG T 3017.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.686;DP=119;FS=7.380;HRun=0;HaplotypeScore=470.6816;MQ=57.58;MQ0=0;MQRankSum=-0.012;QD=25.36;ReadPosRankSum=1.382;set=variant2 GT:AD:DP:GQ:PL 0/1:51,68:119:99:3057,0,2940 4 184426387 184426387 C T exonic ING2 synonymous SNV ING2:NM_001564:exon1:c.C39T:p.A13A 0.71 0.72 0.65 0.63 0.8 0.74 0.7597 0.7204 0.6294 0.6532 0.8226 0.8024 0.7677 0.7375 0.76 0.71 0.79 0.21 0.27 rs8872 COSM447656 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7378 0.7032 0.6078 0.7342 0.6156 0.7981 0.7972 0.7468 0.7235 0.7651 0.7209 0.6326 0.7980 0.6128 0.8055 0.8026 0.7944 hom 553.42 17 4 184426387 . C T 553.42 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.55;VQSLOD=13.4181;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:586,48,0 4 184600601 184600601 A G exonic TRAPPC11 synonymous SNV TRAPPC11:NM_021942:exon9:c.A927G:p.A309A,TRAPPC11:NM_199053:exon9:c.A927G:p.A309A 0.49 0.65 0.52 0.53 0.39 0.29 0.4451 0.6238 0.5265 0.5131 0.4755 0.4257 0.4404 0.3062 0.5 0.62 0.43 0.52 0.42 rs4241779 COSM3760504 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) Benign not_specified RCV000252950.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4466 0.6206 0.5185 0.4283 0.5113 0.4740 0.4256 0.4381 0.3098 0.4984 0.6121 0.5371 0.4139 0.5149 0.4751 0.4388 0.4510 het 1162.32 111 4 184600601 . A G 1162.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.261;DP=111;Dels=0.00;FS=3.545;HRun=1;HaplotypeScore=1.7608;MQ=59.66;MQ0=0;MQRankSum=0.722;QD=10.47;ReadPosRankSum=-0.906;VQSLOD=6.3223;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,49:111:99:1192,0,1658 4 184614874 184614874 C T exonic TRAPPC11 synonymous SNV TRAPPC11:NM_021942:exon21:c.C2370T:p.T790T,TRAPPC11:NM_199053:exon21:c.C2370T:p.T790T 0.22 0.33 0.2 0.18 0.22 0.15 0.2203 0.3196 0.1906 0.1697 0.2755 0.2265 0.2042 0.1585 0.26 0.32 0.22 0.22 0.28 rs4862234 COSM5425586 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000247514.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2173 0.3159 0.1926 0.1449 0.1691 0.2772 0.2302 0.2032 0.1573 0.2537 0.3088 0.2177 0.1424 0.1753 0.2729 0.2318 0.2243 het 984.28 92 4 184614874 . C T 984.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.871;DP=92;Dels=0.00;FS=2.878;HRun=0;HaplotypeScore=2.4527;MQ=59.27;MQ0=0;MQRankSum=-0.146;QD=10.70;ReadPosRankSum=-1.154;VQSLOD=6.2646;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,40:92:99:1014,0,1390 4 184615117 184615117 A C exonic TRAPPC11 nonsynonymous SNV TRAPPC11:NM_021942:exon22:c.A2434C:p.T812P,TRAPPC11:NM_199053:exon22:c.A2434C:p.T812P 0.044 0.0045 0.037 0.027 0.094 0.068 0.0828 0.0197 0.0300 0.0266 0.0989 0.1094 0.0672 0.0763 0.084 0.023 0.12 0.033 0.098 rs62358032 . . Benign not_specified RCV000244013.1 MedGen CN169374 . . . . . . 0.146 0.310 T 0.175 0.272 B 0.21 0.356 B 0.021 0.270 N 0.998 0.226 P 1.39 0.351 L . . . -0.59 0.206 N 0.108 0.219 -1.057 0.125 T 0.001 0.005 T . . . 0.595 0.151 8.124 0.947 0.247 0.224 0.215 N c -1.039 -1.024 0.003 0.100 0.707 0.730 0 -1.58 0.080 0.465 0.216 -0.150 0.108 0.004 0.165 0.805 0.338 7.156 0.247 . . . 0.0815 0.0190 0.0320 0.0476 0.0274 0.0965 0.1155 0.0779 0.0749 0.0782 0.0203 0.0442 0.0530 0.0253 0.1 0.1145 0.0855 het 2154.29 171 4 184615117 . A C 2154.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.955;DP=171;Dels=0.00;FS=10.806;HRun=1;HaplotypeScore=1.5983;MQ=59.29;MQ0=0;MQRankSum=1.306;QD=12.60;ReadPosRankSum=0.990;VQSLOD=3.8210;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,80:171:99:2184,0,2321 4 184618936 184618936 G C exonic TRAPPC11 nonsynonymous SNV TRAPPC11:NM_021942:exon25:c.G2799C:p.Q933H,TRAPPC11:NM_199053:exon25:c.G2799C:p.Q933H 0.14 0.035 0.063 0.21 0.13 0.27 0.1371 0.0476 0.0525 0.2434 0.1237 0.1287 0.1416 0.2360 0.097 0.048 0.12 0.16 0.11 rs62617790 COSM149767 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000244729.1 MedGen CN169374 . . . . . . 0.025 0.473 D 0.998 0.764 D 0.942 0.875 D 0.000 0.843 D 0.000 0.588 P 2.095 0.583 M . . . -1.72 0.468 N 0.135 0.427 -1.116 0.026 T 0.000 0.000 T . . . 3.780 0.511 23.4 0.998 0.855 0.992 0.922 D c 0.478 0.441 0.991 0.323 0.745 0.986 0 4.67 0.579 2.680 0.463 0.067 0.174 1.000 0.715 0.993 0.574 11.98 0.522 . . . 0.1332 0.0479 0.0519 0.1669 0.2388 0.1247 0.1252 0.1166 0.2322 0.1026 0.0514 0.0597 0.1556 0.2447 0.1204 0.1123 0.1334 het 1855.50 121 4 184618936 . G C 1855.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.211;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=58.65;MQ0=0;MQRankSum=0.351;QD=15.33;ReadPosRankSum=0.091;VQSLOD=6.1604;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,66:121:99:1885,0,1499 4 184932523 184932523 C T exonic STOX2 synonymous SNV STOX2:NM_020225:exon3:c.C2532T:p.L844L 0.0074 0.0008 0.019 . 0.015 0.0082 0.0119 0.0018 0.0093 0 0.0189 0.0150 0.0167 0.0102 0.012 0.0033 0.017 . . rs17365239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0121 0.0018 0.0087 0.0199 5.801e-05 0.0185 0.0148 0.0170 0.0100 0.0106 0.0033 0.0107 0.0265 0 0.0172 0.0140 0.0122 het 1298.07 92 4 184932523 . C T 1298.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.975;DP=92;Dels=0.00;FS=4.053;HRun=1;HaplotypeScore=0.9996;MQ=58.45;MQ0=0;MQRankSum=0.947;QD=14.11;ReadPosRankSum=-1.025;VQSLOD=4.6875;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,49:92:99:1328,0,1017 4 185310218 185310218 C T exonic IRF2 synonymous SNV IRF2:NM_002199:exon9:c.G744A:p.G248G 0.42 0.35 0.52 0.42 0.36 0.51 0.4220 0.3552 0.6058 0.4033 0.3744 0.3857 0.4042 0.5120 0.38 0.35 0.39 0.47 0.3 rs1131553 COSM149769 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4273 0.3473 0.5830 0.3904 0.4095 0.3715 0.3857 0.4140 0.5094 0.3864 0.3492 0.5312 0.4007 0.4330 0.3788 0.3945 0.4158 het 2415.34 167 4 185310218 . C T 2415.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.191;DP=167;DS;Dels=0.00;FS=5.978;HRun=0;HaplotypeScore=2.8399;MQ=59.67;MQ0=0;MQRankSum=1.037;QD=14.46;ReadPosRankSum=1.148;VQSLOD=5.0913;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,91:167:99:2445,0,1958 4 185587165 185587165 A G exonic PRIMPOL nonsynonymous SNV PRIMPOL:NM_001300767:exon5:c.A116G:p.Q39R,PRIMPOL:NM_001300768:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345891:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345892:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345893:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345895:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345896:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345899:exon6:c.A503G:p.Q168R,PRIMPOL:NM_152683:exon6:c.A503G:p.Q168R 0.97 0.88 0.99 1. 1. 1. 0.9873 0.8833 0.9940 0.9998 0.9989 0.9965 0.9900 0.9997 0.96 0.89 1. 0.96 0.89 rs2463447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9900 0.8804 0.9924 0.9992 0.9999 0.9989 0.9973 0.9941 0.9996 0.9642 0.8792 0.9893 1 1 0.9977 0.9981 0.9919 hom 1863.07 65 4 185587165 . A G 1863.07 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9967;MQ=58.06;MQ0=0;QD=28.66;VQSLOD=8.0195;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1896,150,0 4 185599489 185599489 G A exonic PRIMPOL synonymous SNV PRIMPOL:NM_001345900:exon6:c.G423A:p.Q141Q,PRIMPOL:NM_001345901:exon6:c.G252A:p.Q84Q,PRIMPOL:NM_001300767:exon7:c.G561A:p.Q187Q,PRIMPOL:NM_001345894:exon7:c.G252A:p.Q84Q,PRIMPOL:NM_001345897:exon7:c.G252A:p.Q84Q,PRIMPOL:NM_001345898:exon7:c.G252A:p.Q84Q,PRIMPOL:NM_001300768:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345891:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345892:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345893:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345895:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345896:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_152683:exon8:c.G948A:p.Q316Q 0.061 0.027 0.11 0.001 0.12 0.073 0.1117 0.0418 0.1135 0.0004 0.1380 0.1383 0.1233 0.0942 0.1 0.04 0.14 0.065 0.041 rs34985821 COSM3760507 1(large_intestine) . . . . . . . . . . . 0.311 0.139 T . . . . . . . . . 1 0.090 P . . . . . . 0.04 0.065 N . . -1.005 0.285 T 0.001 0.002 T . . . -0.929 0.035 0.022 0.940 0.234 0.035 0.086 N c -0.704 -0.855 0.717 0.229 0.615 0.372 0 -1.91 0.072 -0.495 0.065 1.048 0.713 0.000 0.063 0.003 0.074 6.479 0.211 . ENSG00000164306.6|ENSG00000151725.7|ENSG00000151725.7|ENSG00000164306.6|ENSG00000164306.6|ENSG00000151725.7|ENSG00000164306.6|ENSG00000151725.7|ENSG00000164306.6|ENSG00000164306.6|ENSG00000164306.6|ENSG00000151725.7|ENSG00000151725.7|ENSG00000164306.6|ENSG00000151725.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid 0.1108 0.0368 0.1099 0.1578 0.0005 0.1371 0.1328 0.1215 0.0932 0.0979 0.0386 0.1332 0.1767 0.0006 0.1412 0.1284 0.1135 het 743.17 58 4 185599489 . G A 743.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.294;DP=58;Dels=0.00;FS=3.871;HRun=1;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;MQRankSum=0.608;QD=12.81;ReadPosRankSum=-0.624;VQSLOD=6.1740;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,27:58:99:773,0,794 4 185615764 185615764 C A exonic PRIMPOL nonsynonymous SNV PRIMPOL:NM_001345899:exon12:c.C1262A:p.T421K,PRIMPOL:NM_001345900:exon12:c.C989A:p.T330K,PRIMPOL:NM_001345901:exon12:c.C818A:p.T273K,PRIMPOL:NM_001300767:exon13:c.C1127A:p.T376K,PRIMPOL:NM_001345897:exon13:c.C818A:p.T273K,PRIMPOL:NM_001345898:exon13:c.C815A:p.T272K,PRIMPOL:NM_001300768:exon14:c.C1511A:p.T504K,PRIMPOL:NM_001345894:exon14:c.C857A:p.T286K,PRIMPOL:NM_001345895:exon14:c.C1514A:p.T505K,PRIMPOL:NM_001345896:exon14:c.C1511A:p.T504K,PRIMPOL:NM_152683:exon14:c.C1514A:p.T505K,PRIMPOL:NM_001345891:exon15:c.C1553A:p.T518K,PRIMPOL:NM_001345892:exon15:c.C1550A:p.T517K,PRIMPOL:NM_001345893:exon15:c.C1550A:p.T517K 0.15 0.3 0.14 0.001 0.15 0.092 0.1473 0.2774 0.1258 0.0003 0.1478 0.1573 0.1523 0.1163 0.2 0.28 0.16 0.17 0.11 rs14969 COSM3760508 1(large_intestine) . . . . . . . . . . . 0.936 0.022 T 0.0 0.026 B 0.0 0.013 B 0.045 0.019 N 1 0.090 P -1.39 0.006 N 1.63 0.280 T -0.32 0.123 N 0.015 0.041 -0.977 0.357 T 0.000 0.000 T . . . -0.914 0.035 0.024 0.520 0.046 0.060 0.119 N c -1.502 -1.439 0.988 0.314 0.719 0.830 0 -0.002 0.133 -0.704 0.051 0.031 0.150 0.000 0.063 0.001 0.043 4.182 0.098 . ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.1441 0.2773 0.1289 0.1691 0.0005 0.1485 0.1567 0.1520 0.1170 0.1759 0.2696 0.1607 0.1921 0.0006 0.1525 0.1495 0.1329 het 839.72 93 4 185615764 . C A 839.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.741;DP=93;Dels=0.00;FS=5.394;HRun=2;HaplotypeScore=0.9159;MQ=59.50;MQ0=0;MQRankSum=-2.716;QD=9.03;ReadPosRankSum=-2.240;VQSLOD=2.6643;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,35:93:99:870,0,1577 4 185615768 185615768 T G exonic PRIMPOL synonymous SNV PRIMPOL:NM_001345899:exon12:c.T1266G:p.G422G,PRIMPOL:NM_001345900:exon12:c.T993G:p.G331G,PRIMPOL:NM_001345901:exon12:c.T822G:p.G274G,PRIMPOL:NM_001300767:exon13:c.T1131G:p.G377G,PRIMPOL:NM_001345897:exon13:c.T822G:p.G274G,PRIMPOL:NM_001345898:exon13:c.T819G:p.G273G,PRIMPOL:NM_001300768:exon14:c.T1515G:p.G505G,PRIMPOL:NM_001345894:exon14:c.T861G:p.G287G,PRIMPOL:NM_001345895:exon14:c.T1518G:p.G506G,PRIMPOL:NM_001345896:exon14:c.T1515G:p.G505G,PRIMPOL:NM_152683:exon14:c.T1518G:p.G506G,PRIMPOL:NM_001345891:exon15:c.T1557G:p.G519G,PRIMPOL:NM_001345892:exon15:c.T1554G:p.G518G,PRIMPOL:NM_001345893:exon15:c.T1554G:p.G518G 0.15 0.3 0.14 0.001 0.15 0.092 0.1473 0.2774 0.1259 0.0003 0.1481 0.1574 0.1520 0.1163 0.2 0.28 0.16 0.17 0.11 rs3184982 COSM3760509 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1441 0.2773 0.1289 0.1691 0.0005 0.1486 0.1568 0.1523 0.1170 0.1758 0.2696 0.1607 0.1921 0.0006 0.1525 0.1492 0.1329 het 853.73 97 4 185615768 . T G 853.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.462;DP=97;Dels=0.00;FS=5.287;HRun=2;HaplotypeScore=0.9159;MQ=59.52;MQ0=0;MQRankSum=-0.638;QD=8.80;ReadPosRankSum=-1.915;VQSLOD=4.7965;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,36:97:99:884,0,1608 4 185634144 185634144 T C exonic CENPU nonsynonymous SNV CENPU:NM_024629:exon7:c.A642G:p.I214M 0.14 0.29 0.14 0.001 0.15 0.092 0.1468 0.2690 0.1258 0.0003 0.1481 0.1578 0.1533 0.1162 0.2 0.27 0.16 0.16 0.09 rs4616798 COSM3760510 1(large_intestine) . . . . . . . . . . . 0.245 0.174 T 0.0 0.090 B 0.002 0.093 B 0.842 0.070 N 1 0.090 P -0.69 0.019 N 1.97 0.221 T 1.07 0.013 N 0.026 0.022 -0.938 0.430 T 0.000 0.000 T . . . -1.343 0.021 0.004 0.055 0.000 0.001 0.005 N c -1.529 -1.500 0.555 0.214 0.732 0.924 0 0.371 0.153 -3.064 0.007 -1.041 0.020 0.000 0.063 0.002 0.062 8.266 0.308 . ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.1423 0.2667 0.1257 0.1664 0.0004 0.1470 0.1556 0.1478 0.1130 0.1743 0.2642 0.1619 0.1933 0.0006 0.1499 0.1495 0.1312 het 800.29 81 4 185634144 . T C 800.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.111;DP=81;Dels=0.00;FS=3.259;HRun=0;HaplotypeScore=6.8871;MQ=58.22;MQ0=0;MQRankSum=0.932;QD=9.88;ReadPosRankSum=-0.768;VQSLOD=4.5086;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,32:81:99:830,0,1179 4 185637699 185637699 A G exonic CENPU nonsynonymous SNV CENPU:NM_024629:exon6:c.T470C:p.I157T 0.14 0.29 0.14 0.001 0.15 0.092 0.1468 0.2691 0.1257 0.0003 0.1479 0.1578 0.1523 0.1164 0.2 0.27 0.16 0.16 0.12 rs6552804 COSM3760511 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.139 B 0.001 0.149 B 0.355 0.043 N 1 0.090 P 0.425 0.126 N 1.94 0.227 T 0.22 0.170 N 0.012 0.001 -0.972 0.367 T 0.000 0.000 T . . . -2.233 0.005 0.001 0.248 0.011 0.006 0.027 N c -1.992 -2.090 1.000 0.480 0.707 0.730 0 -7.79 0.011 -0.816 0.045 -0.781 0.033 0.000 0.063 0.001 0.043 1.544 0.024 . ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.1438 0.2685 0.1285 0.1692 0.0005 0.1488 0.1572 0.1518 0.1172 0.1750 0.2645 0.1615 0.1921 0.0006 0.1521 0.1503 0.1337 het 995.78 68 4 185637699 . A G 995.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.135;DP=68;Dels=0.00;FS=0.937;HRun=0;HaplotypeScore=0.7887;MQ=59.66;MQ0=0;MQRankSum=-1.318;QD=14.64;ReadPosRankSum=0.234;VQSLOD=6.2280;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,37:68:99:1026,0,809 4 185650154 185650154 G A exonic CENPU synonymous SNV CENPU:NM_024629:exon3:c.C132T:p.F44F 0.14 0.29 0.14 0.001 0.15 0.092 0.1468 0.2691 0.1257 0.0005 0.1480 0.1578 0.1520 0.1164 0.2 0.27 0.16 0.16 0.12 rs6818447 COSM3760512 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1435 0.2683 0.1280 0.1686 0.0007 0.1488 0.1569 0.1512 0.1165 0.1746 0.2637 0.1623 0.1921 0.0006 0.1523 0.1500 0.1334 het 1706.99 126 4 185650154 . G A 1706.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.203;DP=126;Dels=0.00;FS=5.451;HRun=2;HaplotypeScore=0.9332;MQ=59.22;MQ0=0;MQRankSum=0.961;QD=13.55;ReadPosRankSum=1.474;VQSLOD=5.5987;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,64:126:99:1737,0,1571 4 185686032 185686032 C T exonic ACSL1 synonymous SNV ACSL1:NM_001286711:exon14:c.G1305A:p.L435L,ACSL1:NM_001286708:exon15:c.G1407A:p.L469L,ACSL1:NM_001286710:exon15:c.G1407A:p.L469L,ACSL1:NM_001995:exon15:c.G1407A:p.L469L,ACSL1:NM_001286712:exon16:c.G894A:p.L298L 0.83 0.95 0.82 0.93 0.65 0.75 0.7348 0.9207 0.8736 0.9211 0.6438 0.6625 0.7084 0.7524 0.75 0.92 0.66 0.89 0.71 rs2292898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7368 0.9235 0.8641 0.7108 0.9246 0.6532 0.6597 0.7127 0.7519 0.7446 0.9187 0.8648 0.6854 0.9172 0.6444 0.6455 0.6994 hom 1829.63 66 4 185686032 . C T 1829.63 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.53;MQ0=0;QD=27.72;VQSLOD=8.5323;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1863,147,0 4 186097045 186097045 C T exonic CFAP97 synonymous SNV CFAP97:NM_001292033:exon3:c.G1215A:p.P405P,CFAP97:NM_020827:exon3:c.G1215A:p.P405P 0.51 0.66 0.46 0.4 0.51 0.44 0.4846 0.6186 0.5229 0.3974 0.4902 0.4745 0.4699 0.4629 0.51 0.61 0.47 0.49 . rs6855305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4828 0.6167 0.5152 0.5234 0.4074 0.4969 0.4658 0.4823 0.4614 0.5023 0.6081 0.4893 0.5033 0.4061 0.4917 0.4562 0.4701 het 1583.69 101 4 186097045 . C T 1583.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.990;DP=101;Dels=0.00;FS=1.788;HRun=0;HaplotypeScore=0.8667;MQ=59.77;MQ0=0;MQRankSum=-0.333;QD=15.68;ReadPosRankSum=-0.079;VQSLOD=6.6211;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,58:101:99:1614,0,1100 4 186111639 186111639 T C exonic CFAP97 nonsynonymous SNV CFAP97:NM_001292033:exon2:c.A712G:p.T238A,CFAP97:NM_020827:exon2:c.A712G:p.T238A 0.43 0.25 0.52 0.58 0.48 0.41 0.4797 0.2946 0.4652 0.5903 0.5077 0.5067 0.4866 0.4213 0.44 0.3 0.51 0.45 . rs1133657 COSM5904787;COSM5904788 1(skin) . . . . . . . . . . . 0.158 0.291 T 0.061 0.217 B 0.023 0.188 B 0.004 0.348 N 1 0.090 P 0.69 0.170 N 1.59 0.414 T 0.13 0.064 N 0.011 0.001 -0.953 0.405 T 0.000 0.000 T . . . -0.677 0.046 0.082 0.805 0.128 0.525 0.289 D c -0.782 -0.724 1.000 0.747 0.757 0.989 0 4.35 0.513 3.576 0.534 0.122 0.211 0.442 0.263 0.017 0.128 11.184 0.477 . ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000109762.11|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.4831 0.2947 0.4707 0.4446 0.5780 0.5001 0.5148 0.4846 0.4222 0.4624 0.3096 0.4916 0.4669 0.5795 0.5009 0.5252 0.5072 het 731.41 60 4 186111639 . T C 731.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.201;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7356;MQ=58.35;MQ0=0;MQRankSum=-0.386;QD=12.19;ReadPosRankSum=0.253;VQSLOD=5.5352;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,27:60:99:761,0,869 4 186112111 186112111 G A exonic CFAP97 synonymous SNV CFAP97:NM_001292033:exon2:c.C240T:p.P80P,CFAP97:NM_020827:exon2:c.C240T:p.P80P 0.54 0.5 0.55 0.6 0.5 0.56 0.5317 0.5379 0.4887 0.6040 0.5121 0.5287 0.5416 0.5399 0.54 0.55 0.54 0.6 . rs3108237 COSM3760515;COSM3760516 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5293 0.5391 0.4943 0.4832 0.5920 0.5032 0.5356 0.5277 0.5391 0.5424 0.5433 0.5227 0.5033 0.5942 0.5080 0.5464 0.5399 het 582.87 52 4 186112111 . G A 582.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.602;DP=52;Dels=0.00;FS=4.124;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;MQRankSum=0.824;QD=11.21;ReadPosRankSum=-1.287;VQSLOD=6.1247;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:613,0,790 4 186112135 186112135 G A exonic CFAP97 synonymous SNV CFAP97:NM_001292033:exon2:c.C216T:p.N72N,CFAP97:NM_020827:exon2:c.C216T:p.N72N 0.0012 . 0.0014 . 0.005 . 0.0042 0.0013 0.0018 0 0.0024 0.0069 0 0.0003 0.005 0.0019 0.0064 . . rs147009616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0012 0.0024 0.0002 0 0.0020 0.0072 0.0035 0.0005 0.0048 0.0016 0.0048 0 0 0.0017 0.0079 0.0071 het 526.73 50 4 186112135 . G A 526.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.268;DP=50;Dels=0.00;FS=2.504;HRun=0;HaplotypeScore=1.9655;MQ=59.54;MQ0=0;MQRankSum=0.885;QD=10.53;ReadPosRankSum=1.760;VQSLOD=4.4586;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,20:50:99:557,0,817 4 186294198 186294198 C T exonic LRP2BP synonymous SNV LRP2BP:NM_018409:exon6:c.G615A:p.G205G 0.23 0.32 0.27 0.18 0.19 0.16 0.2002 0.2848 0.3225 0.1904 0.1367 0.1852 0.2104 0.1518 0.22 0.28 0.19 0.23 0.2 rs3797026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2004 0.2891 0.3067 0.2009 0.1939 0.1270 0.1852 0.1988 0.1526 0.2057 0.2839 0.2758 0.1523 0.1969 0.1342 0.1765 0.1843 het 1511.14 104 4 186294198 . C T 1511.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.367;DP=104;Dels=0.00;FS=5.135;HRun=2;HaplotypeScore=3.8281;MQ=59.46;MQ0=0;MQRankSum=1.755;QD=14.53;ReadPosRankSum=1.396;VQSLOD=4.7128;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,57:104:99:1541,0,1224 4 186299260 186299260 A G exonic LRP2BP synonymous SNV LRP2BP:NM_018409:exon1:c.T81C:p.F27F 0.37 0.61 0.32 0.25 0.26 0.32 0.2943 0.5468 0.3585 0.2546 0.2316 0.2525 0.2941 0.3054 0.35 0.54 0.26 0.36 0.26 rs2030802 COSM1131164 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2891 0.5541 0.3499 0.2449 0.2567 0.2232 0.2525 0.2785 0.3059 0.3304 0.5400 0.3381 0.2086 0.2580 0.2374 0.2429 0.2888 het 1004.74 81 4 186299260 . A G 1004.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.499;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3046;MQ=59.31;MQ0=0;MQRankSum=0.921;QD=12.40;ReadPosRankSum=-0.024;VQSLOD=6.4298;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,40:81:99:1035,0,1018 4 186379371 186379371 G A exonic CCDC110 synonymous SNV CCDC110:NM_001145411:exon5:c.C2259T:p.Y753Y,CCDC110:NM_152775:exon6:c.C2370T:p.Y790Y 0.98 0.92 0.99 1. 1. 1. 0.9928 0.9212 0.9967 1 1 1.0000 0.9978 0.9996 0.97 0.92 1. 0.98 0.98 rs7687202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9944 0.9212 0.9963 1 1 1 0.9999 0.9981 0.9994 0.9783 0.9237 0.9964 1 1 1 0.9999 0.9980 hom 1685.20 53 4 186379371 . G A 1685.20 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.77;MQ0=0;QD=31.80;VQSLOD=9.3816;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1718,141,0 4 186379899 186379899 G C exonic CCDC110 nonsynonymous SNV CCDC110:NM_001145411:exon5:c.C1731G:p.I577M,CCDC110:NM_152775:exon6:c.C1842G:p.I614M 0.38 0.28 0.36 0.28 0.54 0.49 0.4757 0.3337 0.2768 0.2717 0.4638 0.5606 0.5067 0.4689 0.49 0.33 0.56 0.4 0.49 rs35596415 COSM3760519 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.850 0.070 N 1 0.090 P -2.2 0.001 N 1.46 0.322 T 0.46 0.035 N 0.022 0.006 -0.940 0.426 T 0.000 0.000 T . . . -1.935 0.009 0.001 0.117 0.002 0.004 0.020 N c -1.401 -1.292 0.991 0.324 0.609 0.349 0 0.793 0.177 -0.417 0.071 -0.342 0.072 0.001 0.137 0.073 0.177 7.083 0.243 . ENSG00000168491.5 Testis 0.4667 0.3318 0.2983 0.5853 0.2655 0.4607 0.5559 0.5118 0.4637 0.4474 0.3401 0.3565 0.6026 0.2516 0.4610 0.5272 0.4867 hom 2714.82 86 4 186379899 . G C 2714.82 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.73;MQ0=0;QD=31.57;VQSLOD=8.5542;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2748,205,0 4 186380243 186380243 A C exonic CCDC110 nonsynonymous SNV CCDC110:NM_001145411:exon5:c.T1387G:p.Y463D,CCDC110:NM_152775:exon6:c.T1498G:p.Y500D 0.38 0.28 0.36 0.29 0.54 0.49 0.4806 0.3402 0.2802 0.2765 0.4668 0.5667 0.5034 0.4708 0.48 0.33 0.56 0.4 0.28 rs59319722 COSM3760520 1(kidney);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.066 0.219 N 1.000 0.090 P -2.28 0.001 N 3.63 0.044 T 2.28 0.004 N 0.043 0.023 -0.963 0.386 T 0.000 0.000 T . . . -1.353 0.021 0.004 0.223 0.009 0.008 0.033 N c -1.139 -0.924 1.000 0.416 0.581 0.326 0 4.25 0.495 1.150 0.310 0.067 0.174 0.961 0.334 0.664 0.301 7.408 0.260 . ENSG00000168491.5 Testis 0.4611 0.3307 0.2902 0.5802 0.2595 0.4563 0.5517 0.5033 0.4564 0.4472 0.3406 0.3570 0.6026 0.25 0.4601 0.5272 0.4845 hom 1157.70 33 4 186380243 . A C 1157.70 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.86;MQ0=0;QD=35.08;VQSLOD=9.7367;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:93.30:1191,93,0 4 186380295 186380295 A G exonic CCDC110 synonymous SNV CCDC110:NM_001145411:exon5:c.T1335C:p.N445N,CCDC110:NM_152775:exon6:c.T1446C:p.N482N 0.29 0.15 0.32 0.28 0.44 0.34 0.4003 0.2095 0.2523 0.2682 0.3721 0.4913 0.4163 0.3336 0.4 0.21 0.5 0.3 0.39 rs36007437 COSM3760521 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3899 0.2056 0.2619 0.4853 0.2569 0.3730 0.4851 0.4394 0.3201 0.3661 0.2168 0.3106 0.5433 0.2485 0.3725 0.4618 0.3969 hom 2335.07 70 4 186380295 . A G 2335.07 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=59.47;MQ0=0;QD=33.36;VQSLOD=9.6636;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2368,181,0 4 186380515 186380515 G A exonic CCDC110 nonsynonymous SNV CCDC110:NM_001145411:exon5:c.C1115T:p.S372F,CCDC110:NM_152775:exon6:c.C1226T:p.S409F 0.38 0.28 0.36 0.28 0.54 0.49 0.4753 0.3308 0.2772 0.2722 0.4639 0.5607 0.5033 0.4690 0.49 0.33 0.56 0.39 0.49 rs11132306 COSM3760522 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.980 0.078 N 1 0.090 P -1.895 0.002 N 3.3 0.064 T -0.73 0.206 N 0.045 0.029 -0.972 0.368 T 0.000 0.000 T . . . -1.645 0.014 0.002 0.111 0.002 0.003 0.018 N c -1.523 -1.405 0.991 0.321 0.554 0.283 0 0.54 0.163 -0.877 0.043 0.244 0.267 0.000 0.063 0.420 0.257 3.519 0.072 . ENSG00000168491.5 Testis 0.4664 0.3322 0.2984 0.5857 0.2663 0.4612 0.5558 0.5111 0.4636 0.4470 0.3403 0.3573 0.6026 0.2484 0.4603 0.5266 0.4886 hom 4163.70 131 4 186380515 . G A 4163.70 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=59.18;MQ0=0;QD=31.78;VQSLOD=9.2392;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:4163,322,0 4 186380846 186380846 A T exonic CCDC110 nonsynonymous SNV CCDC110:NM_001145411:exon5:c.T784A:p.L262M,CCDC110:NM_152775:exon6:c.T895A:p.L299M 0.39 0.28 0.36 0.28 0.54 0.49 0.4765 0.3398 0.2779 0.2724 0.4638 0.5611 0.5044 0.4690 0.49 0.34 0.56 0.4 0.49 rs7698680 COSM447676 3(haematopoietic_and_lymphoid_tissue);1(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.981 0.081 N 1 0.090 P -1.445 0.006 N 3.35 0.060 T 0.33 0.075 N 0.025 0.009 -0.944 0.420 T 0.000 0.000 T . . . -2.866 0.002 0.001 0.059 0.000 0.014 0.047 N c -1.596 -1.464 0.154 0.175 0.554 0.283 0 2.03 0.256 -0.154 0.100 -1.287 0.014 0.000 0.063 0.003 0.074 3.807 0.082 . ENSG00000168491.5 Testis 0.4677 0.3376 0.3000 0.5856 0.2669 0.4616 0.5563 0.5128 0.4657 0.4486 0.3467 0.3570 0.6026 0.2494 0.4604 0.5261 0.4867 hom 3996.49 131 4 186380846 . A T 3996.49 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5348;MQ=59.53;MQ0=0;QD=30.51;VQSLOD=6.9863;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:3996,313,0 4 186381115 186381115 G T exonic CCDC110 nonsynonymous SNV CCDC110:NM_001145411:exon5:c.C515A:p.P172Q,CCDC110:NM_152775:exon6:c.C626A:p.P209Q 0.39 0.28 0.36 0.28 0.54 0.49 0.4760 0.3357 0.2778 0.2727 0.4645 0.5605 0.5033 0.4688 0.48 0.33 0.56 0.4 0.4 rs7699687 COSM3760523 2(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.128 0.187 N 1 0.090 P -1.485 0.005 N 3.7 0.336 T 2.05 0.004 N 0.237 0.290 -0.913 0.465 T 0.000 0.000 T . . . -2.015 0.008 0.001 0.088 0.001 0.002 0.011 N c -1.460 -1.284 0.414 0.202 0.554 0.283 0 1.82 0.241 1.062 0.300 -0.253 0.089 0.240 0.245 0.018 0.130 8.357 0.313 . ENSG00000168491.5 Testis 0.4667 0.3362 0.2992 0.5855 0.2663 0.4607 0.5554 0.5125 0.4641 0.4485 0.3456 0.3556 0.6026 0.2497 0.4610 0.5266 0.4867 hom 1329.54 40 4 186381115 . G T 1329.54 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=57.77;MQ0=0;QD=33.24;VQSLOD=8.9463;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1363,111,0 4 186381165 186381165 G A exonic CCDC110 synonymous SNV CCDC110:NM_001145411:exon5:c.C465T:p.D155D,CCDC110:NM_152775:exon6:c.C576T:p.D192D 0.39 0.28 0.36 0.28 0.54 0.49 0.4765 0.3364 0.2783 0.2731 0.4636 0.5608 0.5044 0.4694 0.49 0.33 0.56 0.4 0.41 rs7699724 COSM4158945 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4667 0.3364 0.2994 0.5853 0.2668 0.4607 0.5554 0.5121 0.4640 0.4489 0.3461 0.3556 0.6026 0.2488 0.4610 0.5271 0.4877 hom 1131.87 36 4 186381165 . G A 1131.87 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.97;MQ0=0;QD=31.44;VQSLOD=8.2294;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:99:1165,99,0 4 186382206 186382206 A G exonic CCDC110 synonymous SNV CCDC110:NM_152775:exon5:c.T345C:p.D115D 0.38 0.28 0.36 0.28 0.54 0.49 0.4751 0.3309 0.2777 0.2723 0.4639 0.5608 0.5033 0.4672 0.48 0.33 0.56 0.37 0.47 rs11132309 COSM3760524 3(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4604 0.3242 0.2777 0.5812 0.2558 0.4594 0.5528 0.5048 0.4493 0.4229 0.3152 0.3350 0.5922 0.225 0.4372 0.5042 0.4687 hom 3507.55 113 4 186382206 . A G 3507.55 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1928;MQ=53.02;MQ0=0;QD=31.04;VQSLOD=4.0928;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3507,271,0 4 186423637 186423637 G A exonic PDLIM3 synonymous SNV PDLIM3:NM_001257963:exon5:c.C405T:p.V135V,PDLIM3:NM_001114107:exon7:c.C762T:p.V254V,PDLIM3:NM_001257962:exon7:c.C642T:p.V214V,PDLIM3:NM_014476:exon8:c.C906T:p.V302V 0.66 0.31 0.79 0.81 0.82 0.71 0.7830 0.3708 0.7549 0.8066 0.8770 0.8484 0.7881 0.7463 0.7 0.39 0.85 0.61 0.7 rs4635850 COSM4808685;COSM4808684 1(pancreas) Benign not_specified RCV000127429.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7885 0.3658 0.7502 0.7502 0.8093 0.8744 0.8525 0.7823 0.7478 0.7177 0.3719 0.7792 0.7450 0.8156 0.8817 0.8604 0.8 hom 3989.87 131 4 186423637 . G A 3989.87 Mask AC=2;AF=1.00;AN=2;DP=131;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5566;MQ=59.65;MQ0=0;QD=30.46;VQSLOD=8.5237;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:131:99:3989,331,0 4 186541301 186541301 A G exonic SORBS2 synonymous SNV SORBS2:NM_001145674:exon8:c.T2220C:p.R740R,SORBS2:NM_001145675:exon8:c.T684C:p.R228R,SORBS2:NM_001145670:exon14:c.T1140C:p.R380R,SORBS2:NM_001145672:exon14:c.T1191C:p.R397R,SORBS2:NM_021069:exon14:c.T2508C:p.R836R,SORBS2:NM_001145671:exon16:c.T1401C:p.R467R,SORBS2:NM_001145673:exon16:c.T1680C:p.R560R,SORBS2:NM_003603:exon16:c.T1206C:p.R402R,SORBS2:NM_001270771:exon17:c.T2808C:p.R936R 0.041 0.0045 0.049 . 0.1 0.063 0.0797 0.0187 0.0478 0.0003 0.0776 0.1077 0.0672 0.0705 0.08 0.022 0.11 0.065 0.14 rs61753946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0787 0.0177 0.0471 0.1071 0.0003 0.0740 0.1083 0.0933 0.0715 0.0680 0.0217 0.0526 0.1126 0 0.0750 0.1008 0.0663 het 2904.48 245 4 186541301 . A G 2904.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.673;DP=245;DS;Dels=0.00;FS=5.718;HRun=0;HaplotypeScore=12.9968;MQ=59.16;MQ0=0;MQRankSum=-0.315;QD=11.86;ReadPosRankSum=-0.021;VQSLOD=2.8022;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,114:245:99:2934,0,3448 4 186544879 186544879 G C exonic SORBS2 synonymous SNV SORBS2:NM_001145674:exon7:c.C1404G:p.P468P,SORBS2:NM_021069:exon13:c.C1692G:p.P564P,SORBS2:NM_001270771:exon16:c.C1992G:p.P664P 0.049 0.052 0.04 . 0.085 0.067 0.0789 0.0616 0.0438 0.0006 0.0863 0.0993 0.0701 0.0719 0.069 0.046 0.081 0.087 0.09 rs61910743 COSM3760526;COSM3760525 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0767 0.0614 0.0457 0.0979 0.0003 0.0827 0.0974 0.0878 0.0736 0.0750 0.0625 0.0501 0.1060 0 0.0825 0.0900 0.0645 het 874.19 78 4 186544879 . G C 874.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.281;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6988;MQ=59.11;MQ0=0;MQRankSum=0.781;QD=11.21;ReadPosRankSum=-0.303;VQSLOD=5.9722;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:904,0,994 4 187004074 187004074 C T exonic TLR3 nonsynonymous SNV TLR3:NM_003265:exon4:c.C1234T:p.L412F 0.23 0.026 0.31 0.33 0.32 0.26 0.2712 0.0658 0.2852 0.3374 0.3190 0.2952 0.3079 0.2367 0.22 0.071 0.29 0.21 0.27 rs3775291 COSM149771 1(stomach);8(soft_tissue);1(pancreas);1(large_intestine) other|Benign Human_immunodeficiency_virus_type_1\x2c_susceptibility_to|not_specified RCV000034357.3|RCV000455666.1 MedGen:OMIM|MedGen C1836230:609423|CN169374 . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 N 0.000 0.588 P 4.14 0.976 H -1.36 0.801 T -3.54 0.686 D 0.481 0.530 -1.355 0.000 T 0.000 0.000 T . . . 4.185 0.561 23.8 0.999 0.959 0.982 0.800 D c 0.775 0.615 1.000 0.417 0.554 0.283 0 4.95 0.648 4.103 0.573 0.935 0.490 0.999 0.424 0.336 0.243 14.798 0.694 Leucine-rich repeat domain\x2c L domain-like . . 0.2789 0.0649 0.2982 0.2555 0.3381 0.3239 0.2970 0.2930 0.2376 0.2382 0.0688 0.2866 0.2715 0.3458 0.3248 0.2981 0.2959 het 833.91 74 4 187004074 . C T 833.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.637;DP=74;Dels=0.00;FS=1.943;HRun=1;HaplotypeScore=0.0000;MQ=58.41;MQ0=0;MQRankSum=1.914;QD=11.27;ReadPosRankSum=-3.531;VQSLOD=3.2473;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,34:74:99:864,0,1126 4 187004217 187004217 C T exonic TLR3 synonymous SNV TLR3:NM_003265:exon4:c.C1377T:p.F459F 0.27 0.19 0.27 0.34 0.27 0.32 0.3007 0.1997 0.3567 0.3277 0.3010 0.2989 0.2819 0.3185 0.27 0.2 0.31 0.2 0.2 rs3775290 COSM1428947 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000454544.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3023 0.1951 0.3498 0.2385 0.3231 0.2942 0.3026 0.2923 0.3189 0.2733 0.1964 0.3556 0.2133 0.3298 0.2815 0.3045 0.3051 het 1284.11 100 4 187004217 . C T 1284.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.736;DP=100;Dels=0.00;FS=5.084;HRun=4;HaplotypeScore=0.0000;MQ=58.56;MQ0=0;MQRankSum=-1.197;QD=12.84;ReadPosRankSum=0.197;VQSLOD=4.6458;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,48:100:99:1314,0,1381 4 187074833 187074833 A G exonic FAM149A nonsynonymous SNV FAM149A:NM_001006655:exon5:c.A121G:p.K41E,FAM149A:NM_001350178:exon5:c.A121G:p.K41E,FAM149A:NM_001350179:exon5:c.A121G:p.K41E,FAM149A:NM_015398:exon5:c.A121G:p.K41E 0.88 0.93 0.86 0.82 0.89 0.88 0.8617 0.9067 0.7827 0.8125 0.8412 0.8744 0.8711 0.8711 0.89 0.9 0.88 0.84 0.79 rs4862650 COSM3760527;COSM3760528 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.989 0.243 P -3.015 0.000 N 1.29 0.358 T 3.04 0.001 N 0.068 0.312 -0.956 0.399 T 0.000 0.000 T . . . 0.046 0.098 3.039 0.562 0.054 0.014 0.046 N c -0.975 -0.665 0.887 0.257 0.706 0.609 0 5.45 0.796 3.558 0.532 0.092 0.196 1.000 0.715 0.002 0.062 13.780 0.624 . . . 0.8574 0.9020 0.7970 0.8215 0.8080 0.8464 0.8787 0.8671 0.8690 0.8732 0.9008 0.8305 0.8377 0.8265 0.8502 0.8699 0.8837 hom 7036.73 226 4 187074833 . A G 7036.73 Mask AC=2;AF=1.00;AN=2;DP=226;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4542;MQ=59.38;MQ0=0;QD=31.14;VQSLOD=4.2612;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:226:99:6990,590,0 4 187077206 187077206 A G exonic FAM149A nonsynonymous SNV FAM149A:NM_001006655:exon7:c.A436G:p.K146E,FAM149A:NM_001350178:exon7:c.A436G:p.K146E,FAM149A:NM_001350179:exon7:c.A436G:p.K146E,FAM149A:NM_015398:exon7:c.A436G:p.K146E 0.89 0.95 0.86 0.82 0.89 0.88 0.8668 0.9398 0.7791 0.8098 0.8465 0.8796 0.8767 0.8678 0.9 0.94 0.88 0.86 0.95 rs4862653 COSM3760530;COSM3760529 1(large_intestine) . . . . . . . . . . . 0.126 0.341 T 0.021 0.217 B 0.009 0.193 B 0.004 0.340 N 1 0.090 P 2.495 0.729 M 2.28 0.174 T -2.4 0.548 N 0.117 0.217 -1.057 0.124 T 0.000 0.000 T . . . 0.475 0.140 7.240 0.857 0.155 0.239 0.220 N c -0.978 -1.006 0.299 0.192 0.706 0.609 0 3.0 0.336 2.970 0.487 -0.649 0.041 0.037 0.206 0.000 0.016 9.404 0.374 . . . 0.8614 0.9390 0.7936 0.8177 0.8058 0.8513 0.8837 0.8717 0.8663 0.8871 0.9372 0.8317 0.8344 0.8236 0.8562 0.8758 0.8921 hom 3342.42 114 4 187077206 . A G 3342.42 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5213;MQ=59.47;MQ0=0;QD=29.32;VQSLOD=8.7163;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3342,280,0 4 187078785 187078785 A G exonic FAM149A nonsynonymous SNV FAM149A:NM_001006655:exon8:c.A641G:p.H214R,FAM149A:NM_001350178:exon8:c.A641G:p.H214R,FAM149A:NM_001350179:exon8:c.A641G:p.H214R,FAM149A:NM_015398:exon8:c.A641G:p.H214R 0.89 0.96 0.86 0.82 0.89 0.88 0.8691 0.9418 0.7791 0.8134 0.8483 0.8823 0.8797 0.8697 0.9 0.94 0.88 0.83 0.89 rs2276924 COSM3760531;COSM3760532 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.001 0.436 N 1 0.090 P -1.4 0.006 N 2.89 0.102 T 2.29 0.003 N 0.037 0.214 -0.989 0.329 T 0.000 0.000 T . . . -3.023 0.001 0.001 0.238 0.010 0.000 0.003 N c -1.690 -1.558 0.855 0.251 0.706 0.609 0 2.01 0.254 0.392 0.204 -1.001 0.022 0.002 0.151 0.000 0.016 9.476 0.378 . . . 0.8634 0.9412 0.7950 0.8182 0.8087 0.8531 0.8859 0.8736 0.8682 0.8878 0.9379 0.8329 0.8344 0.8245 0.8571 0.8764 0.8941 hom 3565.77 123 4 187078785 . A G 3565.77 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6202;MQ=59.57;MQ0=1;QD=28.99;VQSLOD=7.2668;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,122:123:99:3565,301,0 4 187113041 187113041 C G exonic CYP4V2 nonsynonymous SNV CYP4V2:NM_207352:exon1:c.C64G:p.L22V 0.41 0.43 0.44 0.27 0.52 0.38 0.5289 0.5037 0.4935 0.3795 0.5811 0.5753 0.5312 0.4485 0.46 0.41 0.49 0.011 0.082 rs1055138 COSM3749867 2(thyroid);3(large_intestine) other|Benign|Likely benign|Benign Bietti_crystalline_corneoretinal_dystrophy|not_specified|not_provided|Corneal_Dystrophy\x2c_Recessive RCV000032544.3|RCV000082840.5|RCV000132719.1|RCV000278726.1 MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen C1859486:210370:ORPHA41751|CN169374|CN221809|CN239343 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.490 0.050 N 1 0.090 P -0.895 0.014 N -0.18 0.658 T -0.19 0.100 N 0.031 0.012 -0.947 0.415 T 0.000 0.000 T . . . -1.245 0.024 0.005 0.521 0.046 0.004 0.021 N c -1.409 -1.403 1.000 0.747 0.267 0.040 1 0.679 0.171 -0.996 0.038 -0.649 0.041 0.000 0.063 0.000 0.016 7.120 0.245 . ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000109794.9|ENSG00000109794.9|ENSG00000164344.11|ENSG00000109794.9|ENSG00000109794.9|ENSG00000109794.9|ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000109794.9|ENSG00000109794.9|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000250327.1|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000109794.9|ENSG00000109794.9|ENSG00000145476.11|ENSG00000109794.9|ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000109794.9|ENSG00000164344.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000250327.1|ENSG00000109794.9|ENSG00000145476.11|ENSG00000088926.9|ENSG00000269302.1|ENSG00000109794.9|ENSG00000109794.9|ENSG00000164344.11|ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000269302.1|ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000269302.1|ENSG00000164344.11|ENSG00000145476.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4440 0.4268 0.3864 0.4687 0.2719 0.4526 0.5052 0.4593 0.4035 0.4629 0.4272 0.4005 0.4333 0.2874 0.4630 0.5053 0.4857 het 89.73 10 4 187113041 . C G 89.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.851;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.16;MQ0=0;MQRankSum=0.851;QD=8.97;ReadPosRankSum=-0.336;VQSLOD=5.3340;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:120,0,104 4 187120211 187120211 C A exonic CYP4V2 nonsynonymous SNV CYP4V2:NM_207352:exon6:c.C775A:p.Q259K 0.56 0.6 0.47 0.41 0.65 0.63 0.5852 0.6218 0.3528 0.3977 0.6623 0.6306 0.5837 0.6094 0.63 0.62 0.63 0.54 0.61 rs13146272 COSM4003013 4(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign not_specified|Bietti_crystalline_corneoretinal_dystrophy|Corneal_Dystrophy\x2c_Recessive RCV000244699.1|RCV000268361.1|RCV000358574.1 MedGen|MedGen:OMIM:Orphanet|MedGen CN169374|C1859486:210370:ORPHA41751|CN239343 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.182 P -2.155 0.001 N -0.18 0.658 T 2.03 0.004 N 0.019 0.004 -0.942 0.423 T 0.000 0.000 T . . . 0.485 0.141 7.317 0.271 0.013 0.098 0.153 N c -1.221 -1.027 0.806 0.242 0.615 0.372 0 0.977 0.188 2.225 0.424 -0.215 0.099 0.943 0.325 0.040 0.157 5.992 0.186 . ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5745 0.6164 0.3732 0.5167 0.3938 0.6646 0.6366 0.5509 0.6066 0.6151 0.6127 0.4270 0.5166 0.4045 0.6551 0.6430 0.6063 het 978.57 82 4 187120211 . C A 978.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.030;DP=82;Dels=0.00;FS=0.925;HRun=1;HaplotypeScore=5.8979;MQ=59.47;MQ0=0;MQRankSum=2.758;QD=11.93;ReadPosRankSum=-0.501;VQSLOD=4.0409;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,39:82:99:1009,0,1168 4 187122319 187122319 T G exonic CYP4V2 synonymous SNV CYP4V2:NM_207352:exon7:c.T810G:p.A270A 0.58 0.64 0.49 0.41 0.67 0.63 0.5982 0.6165 0.3643 0.3968 0.6807 0.6489 0.5993 0.6178 0.64 0.62 0.65 0.51 0.59 rs3736455 COSM149773 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign|Benign not_specified|Bietti_crystalline_corneoretinal_dystrophy|Corneal_Dystrophy\x2c_Recessive RCV000153131.4|RCV000273389.1|RCV000356224.1 MedGen|MedGen:OMIM:Orphanet|MedGen CN169374|C1859486:210370:ORPHA41751|CN239343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5893 0.6150 0.3844 0.5282 0.3928 0.6843 0.6576 0.5715 0.6161 0.6288 0.6109 0.4353 0.5364 0.4046 0.6798 0.6650 0.6173 het 1280.90 89 4 187122319 . T G 1280.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.213;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9315;MQ=58.42;MQ0=0;MQRankSum=0.311;QD=14.39;ReadPosRankSum=-1.746;VQSLOD=5.4235;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,51:89:99:1311,0,990 4 187158034 187158034 G A exonic KLKB1 nonsynonymous SNV KLKB1:NM_000892:exon5:c.G428A:p.S143N,KLKB1:NM_001318394:exon6:c.G314A:p.S105N 0.6 0.78 0.59 0.68 0.52 0.39 0.5365 0.7374 0.6354 0.6668 0.5660 0.5037 0.5165 0.3940 0.58 0.74 0.51 0.63 0.54 rs3733402 COSM3760537;COSM149774 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) Pathogenic Prekallikrein_deficiency RCV000012817.25 MedGen:OMIM:Orphanet:SNOMED_CT C0272339:612423:ORPHA749:48976006 Obesity-related traits . -0.04 23251661 rs3733402 9E-8 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.559 N 1 0.090 P . . . -2.33 0.879 D 2.36 0.004 N 0.015 0.115 -1.014 0.258 T 0.000 0.000 T . . . -0.718 0.044 0.065 0.166 0.005 0.001 0.007 N c -0.404 -0.476 0.575 0.215 0.554 0.283 0 4.91 0.638 4.212 0.581 0.168 0.246 0.518 0.269 0.293 0.236 9.204 0.362 Apple domain|PAN/Apple domain;PAN/Apple domain ENSG00000088926.9|ENSG00000088926.9|ENSG00000088926.9|ENSG00000088926.9|ENSG00000145476.11 Artery_Tibial|Brain_Cortex|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.5385 0.7364 0.6300 0.4368 0.6691 0.5768 0.5055 0.5321 0.3928 0.6006 0.7397 0.6456 0.4868 0.6770 0.5929 0.5175 0.5316 het 1050.96 96 4 187158034 . G A 1050.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.862;DP=96;Dels=0.00;FS=0.776;HRun=1;HaplotypeScore=2.7627;MQ=58.67;MQ0=0;MQRankSum=-1.146;QD=10.95;ReadPosRankSum=-0.347;VQSLOD=5.4580;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,44:96:99:1081,0,1326 4 187179210 187179210 T C exonic KLKB1 nonsynonymous SNV KLKB1:NM_001318394:exon15:c.T1507C:p.W503R 0.66 0.63 0.68 0.85 0.7 0.44 0.6682 0.6564 0.7240 0.86 0.6853 0.6804 0.6740 0.4793 0.68 0.66 0.69 0.62 0.66 rs925453 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P . . . . . . . . . . . -0.929 0.443 T 0.000 0.000 T . . . -0.627 0.049 0.107 0.277 0.014 0.020 0.060 N c -2.159 -2.324 1.000 0.747 0.672 0.522 0 -12.1 0.000 -3.631 0.005 -3.087 0.001 0.000 0.063 0.002 0.062 10.770 0.453 Serine proteases\x2c trypsin domain ENSG00000088926.9|ENSG00000088926.9|ENSG00000088926.9|ENSG00000145476.11|ENSG00000088926.9 Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Muscularis 0.6744 0.6575 0.7278 0.6661 0.8598 0.6958 0.6819 0.6934 0.4775 0.6957 0.6677 0.7392 0.6887 0.8533 0.7119 0.6905 0.6704 hom 4182.87 139 4 187179210 . T C 4182.87 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.98;MQ0=0;QD=30.09;VQSLOD=8.8016;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4182,328,0 4 187205402 187205402 A G exonic F11 nonsynonymous SNV F11:NM_000128:exon11:c.A1292G:p.H431R . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.971 0.708 D 0.000 0.441 D 1 0.810 D 3.57 0.936 H -3.77 0.956 D -6.39 0.911 D 0.919 0.910 1.090 0.992 D 0.942 0.981 D 0.320 0.915 D 4.070 0.546 23.7 0.996 0.738 0.986 0.842 D c 0.784 0.638 1.000 0.747 0.487 0.133 0 4.97 0.653 8.501 0.903 1.199 0.960 1.000 0.715 0.298 0.237 13.371 0.600 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . . . . . . . . . . . . . . . . . . het 523.45 48 4 187205402 . A G 523.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.491;DP=48;Dels=0.00;FS=4.158;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=-1.096;QD=10.91;ReadPosRankSum=0.843;VQSLOD=4.1639;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,19:48:99:553,0,823 4 187516880 187516880 A G exonic FAT1 synonymous SNV FAT1:NM_005245:exon26:c.T13101C:p.S4367S 0.49 0.71 0.53 0.57 0.37 0.21 0.4212 0.6739 0.5967 0.6275 0.3884 0.3714 0.4120 0.2553 0.45 0.65 0.36 0.56 . rs1298865 COSM4158952;COSM4158951 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4253 0.6741 0.5907 0.4556 0.6208 0.3875 0.3631 0.4138 0.2575 0.4742 0.6638 0.5299 0.4172 0.6185 0.3804 0.3714 0.4267 het 2774.59 204 4 187516880 . A G 2774.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.828;DP=204;Dels=0.00;FS=1.129;HRun=1;HaplotypeScore=3.9959;MQ=59.34;MQ0=0;MQRankSum=0.110;QD=13.60;ReadPosRankSum=0.990;VQSLOD=6.1413;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,100:204:99:2805,0,2732 4 187519206 187519206 C G exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon23:c.G12177C:p.K4059N 1. 1. 1. 1. 1. 0.99 0.9953 0.9992 0.9979 1 0.9959 0.9937 0.9967 0.9953 1. 1. 0.99 1. . rs1280097 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.201 P -1.635 0.004 N -2.25 0.873 D 1.71 0.006 N 0.058 0.041 -0.950 0.410 T 0.000 0.000 T . . . 0.199 0.113 4.672 0.151 0.004 0.107 0.160 N c -1.425 -1.185 0.951 0.279 0.707 0.730 0 -0.147 0.127 0.353 0.197 -0.328 0.075 0.998 0.411 0.797 0.335 8.460 0.319 EGF-like calcium-binding domain|EGF-like domain;EGF-like domain . . 0.9953 0.9993 0.9976 0.9964 1 0.9957 0.9934 0.9949 0.9949 0.9958 0.9987 0.9976 1 1 0.9969 0.9933 0.9949 hom 3752.44 126 4 187519206 . C G 3752.44 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5439;MQ=59.28;MQ0=1;QD=29.78;VQSLOD=8.3807;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:126:99:3752,289,0 4 187525020 187525020 A C exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon19:c.T10660G:p.S3554A 0.51 0.78 0.54 0.58 0.37 0.21 0.4276 0.7413 0.6005 0.6318 0.3858 0.3721 0.4105 0.2563 0.47 0.71 0.36 0.58 . rs2637777 COSM4984957;COSM4984958 1(haematopoietic_and_lymphoid_tissue);14(soft_tissue);2(pancreas) . . . . . . . . . . . 0.43 0.095 T 0.0 0.026 B 0.0 0.013 B 0.000 0.457 N 1 0.090 P 0.425 0.126 N 1.2 0.374 T -0.74 0.208 N 0.036 0.016 -1.002 0.294 T 0.000 0.000 T . . . -0.348 0.065 0.515 0.454 0.035 0.041 0.095 N c -1.263 -1.235 0.849 0.250 0.672 0.522 0 2.19 0.268 0.198 0.169 -0.333 0.074 0.057 0.215 0.761 0.325 5.734 0.172 Cadherin|Cadherin-like . . 0.4306 0.7413 0.5936 0.4545 0.6254 0.3846 0.3644 0.4149 0.2579 0.4939 0.7324 0.5371 0.4172 0.6255 0.3789 0.3717 0.4233 het 1029.96 76 4 187525020 . A C 1029.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.064;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.45;MQ0=0;MQRankSum=0.827;QD=13.55;ReadPosRankSum=0.463;VQSLOD=6.9226;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,40:76:99:1060,0,958 4 187534363 187534363 G A exonic FAT1 synonymous SNV FAT1:NM_005245:exon13:c.C9363T:p.N3121N 0.61 0.74 0.66 0.67 0.58 0.38 0.5913 0.7093 0.6889 0.6866 0.5977 0.5797 0.5668 0.4486 0.62 0.71 0.58 0.55 . rs2249916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5935 0.7056 0.6814 0.6208 0.6785 0.5911 0.5753 0.5995 0.4520 0.6188 0.6946 0.6430 0.5861 0.6702 0.5823 0.5777 0.6091 het 1940.16 147 4 187534363 . G A 1940.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.259;DP=147;Dels=0.00;FS=9.906;HRun=0;HaplotypeScore=2.7236;MQ=59.30;MQ0=0;MQRankSum=-1.400;QD=13.20;ReadPosRankSum=0.805;VQSLOD=4.1941;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,70:147:99:1970,0,1832 4 187534375 187534375 A G exonic FAT1 synonymous SNV FAT1:NM_005245:exon13:c.T9351C:p.D3117D 0.42 0.54 0.47 0.28 0.47 0.3 0.4408 0.5422 0.5184 0.2862 0.4536 0.4537 0.4196 0.3504 0.47 0.53 0.45 0.46 . rs2249917 COSM4003024;COSM4003025 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4406 0.5383 0.5062 0.4728 0.2771 0.4481 0.4522 0.4565 0.3513 0.4572 0.5304 0.4844 0.4669 0.25 0.4432 0.4395 0.4443 het 1933.99 170 4 187534375 . A G 1933.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.941;DP=170;Dels=0.00;FS=7.542;HRun=0;HaplotypeScore=1.6988;MQ=59.40;MQ0=0;MQRankSum=-0.194;QD=11.38;ReadPosRankSum=0.329;VQSLOD=5.0594;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,79:170:99:1964,0,2403 4 187538330 187538330 G A exonic FAT1 synonymous SNV FAT1:NM_005245:exon11:c.C8904T:p.A2968A 0.42 0.54 0.47 0.28 0.47 0.3 0.4398 0.5402 0.5186 0.2853 0.4530 0.4514 0.4189 0.3539 0.48 0.54 0.45 0.46 . rs1280099 COSM5425427;COSM5425426 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4398 0.5372 0.5070 0.4740 0.2766 0.4490 0.4500 0.4547 0.3505 0.4575 0.5317 0.4820 0.4636 0.25 0.4446 0.4388 0.45 het 782.75 64 4 187538330 . G A 782.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.551;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8893;MQ=59.64;MQ0=0;MQRankSum=-1.282;QD=12.23;ReadPosRankSum=-0.275;VQSLOD=5.8279;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,32:64:99:813,0,777 4 187538942 187538942 T G exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon10:c.A8798C:p.Q2933P 0.59 0.77 0.6 0.63 0.55 0.36 0.5554 0.7118 0.6204 0.6437 0.5358 0.5440 0.5359 0.4249 0.62 0.76 0.56 0.56 . rs1280098 COSM4005727;COSM4005726 1(urinary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.998 0.222 P -2.575 0.000 N 0.79 0.491 T 6.89 0.000 N 0.061 0.045 -0.940 0.426 T 0.000 0.000 T . . . -1.112 0.028 0.009 0.141 0.003 0.155 0.187 N c -1.170 -0.931 1.000 0.747 0.732 0.924 0 4.04 0.461 6.354 0.728 0.136 0.221 1.000 0.715 0.044 0.160 10.101 0.415 Cadherin|Cadherin-like . . 0.5549 0.7098 0.6170 0.5790 0.6354 0.5297 0.5402 0.5670 0.4270 0.5898 0.7045 0.5871 0.5298 0.6355 0.5183 0.5375 0.5682 het 2497.77 238 4 187538942 . T G 2497.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.420;DP=238;DS;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=6.7348;MQ=59.17;MQ0=0;MQRankSum=-1.649;QD=10.49;ReadPosRankSum=-1.240;VQSLOD=2.9783;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:139,99:238:99:2528,0,3822 4 187541131 187541131 G A exonic FAT1 synonymous SNV FAT1:NM_005245:exon10:c.C6609T:p.H2203H 0.014 0.0008 0.016 . 0.036 0.024 0.0211 0.0055 0.0187 0 0.0197 0.0271 0.0200 0.0198 0.021 0.006 0.029 . . rs35389971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0210 0.0054 0.0183 0.0086 0.0001 0.0175 0.0291 0.0281 0.0190 0.0177 0.0057 0.0167 0.0132 0 0.0163 0.0271 0.0173 het 3042.20 199 4 187541131 . G A 3042.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.013;DP=199;DS;Dels=0.00;FS=6.383;HRun=0;HaplotypeScore=3.8604;MQ=59.09;MQ0=0;MQRankSum=0.590;QD=15.29;ReadPosRankSum=0.775;VQSLOD=4.6448;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:90,109:199:99:3072,0,2555 4 187627792 187627792 T C exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon2:c.A3190G:p.R1064G 0.75 0.91 0.72 0.5 0.78 0.77 0.7609 0.8872 0.6490 0.4978 0.7464 0.7875 0.7728 0.7992 0.83 0.89 0.8 0.74 . rs11939575 COSM4003035;COSM4003034 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.996 0.232 P -3.06 0.000 N 0.54 0.549 T 6.26 0.000 N 0.104 0.109 -0.947 0.415 T 0.000 0.000 T . . . 0.930 0.183 10.26 0.362 0.023 0.197 0.206 N c -0.994 -0.682 1.000 0.747 0.672 0.522 0 4.6 0.564 6.177 0.717 0.069 0.176 1.000 0.715 0.007 0.100 12.991 0.578 Cadherin|Cadherin-like . . 0.7551 0.8964 0.6598 0.8075 0.4987 0.7460 0.7880 0.7663 0.8010 0.7963 0.8886 0.6790 0.7517 0.5136 0.7496 0.7913 0.7959 hom 7395.18 247 4 187627792 . T C 7395.18 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9049;MQ=59.44;MQ0=0;QD=29.94;VQSLOD=8.6125;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,247:247:99:7394,581,0 4 187628398 187628398 C G exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon2:c.G2584C:p.V862L 0.69 0.7 0.7 0.5 0.78 0.77 0.7460 0.7131 0.6415 0.4980 0.7468 0.7865 0.7650 0.8030 0.78 0.73 0.8 0.67 . rs1877731 COSM4003036;COSM4003037 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.504 N 1 0.090 P -0.735 0.018 N 0.95 0.433 T 1.74 0.006 N 0.028 0.009 -0.935 0.434 T 0.000 0.000 T . . . -1.358 0.020 0.004 0.123 0.002 0.140 0.180 N c -1.205 -1.062 1.000 0.454 0.672 0.522 0 3.06 0.342 1.422 0.342 0.101 0.200 1.000 0.715 0.035 0.152 11.374 0.488 Cadherin|Cadherin-like . . 0.7426 0.7190 0.6514 0.8067 0.4990 0.7461 0.7868 0.7567 0.8050 0.7483 0.7208 0.6663 0.7533 0.5149 0.7503 0.7906 0.7908 hom 4663.27 138 4 187628398 . C G 4663.27 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.83;MQ0=0;QD=33.79;VQSLOD=9.6614;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4663,367,0 4 187629140 187629140 G C exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon2:c.C1842G:p.F614L 0.69 0.71 0.7 0.5 0.78 0.77 0.7476 0.7276 0.6422 0.4986 0.7474 0.7870 0.7667 0.8025 0.78 0.75 0.8 0.66 . rs367863 COSM4003039;COSM4003038 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.194 P -1.85 0.003 N 1.35 0.346 T 0.22 0.047 N 0.021 0.005 -0.980 0.351 T 0.000 0.000 T . . . -0.701 0.045 0.071 0.213 0.008 0.483 0.279 N c -0.974 -0.734 1.000 0.458 0.638 0.428 0 3.53 0.394 1.182 0.314 0.014 0.141 1.000 0.715 0.206 0.219 4.962 0.133 Cadherin|Cadherin-like . . 0.7438 0.7326 0.6520 0.8072 0.4986 0.7463 0.7873 0.7569 0.8046 0.7519 0.7350 0.6659 0.7517 0.5111 0.7499 0.7907 0.7878 hom 3095.92 93 4 187629140 . G C 3095.92 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.75;MQ0=0;QD=33.29;VQSLOD=8.9697;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:93:99:3129,241,0 4 187629497 187629497 G A exonic FAT1 synonymous SNV FAT1:NM_005245:exon2:c.C1485T:p.N495N 0.42 0.29 0.57 0.22 0.65 0.47 0.5644 0.3407 0.5302 0.2294 0.6309 0.6531 0.5802 0.5097 0.56 0.37 0.65 0.3 . rs458021 COSM4003040;COSM4003041 5(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5653 0.3450 0.5399 0.6267 0.2277 0.6265 0.6515 0.5834 0.5119 0.5399 0.3539 0.5465 0.5927 0.2295 0.6330 0.6530 0.6196 het 4460.83 249 4 187629497 . G A 4460.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.651;DP=249;DS;Dels=0.00;FS=1.564;HRun=0;HaplotypeScore=2.6871;MQ=59.29;MQ0=0;MQRankSum=1.446;QD=17.91;ReadPosRankSum=-0.763;VQSLOD=5.7423;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:115,134:249:99:3795,0,2983 4 187629538 187629538 C T exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon2:c.G1444A:p.V482I 0.34 0.16 0.48 0.14 0.58 0.44 0.4865 0.2166 0.4485 0.1443 0.5027 0.5778 0.4989 0.4755 0.46 0.22 0.58 0.22 . rs3733413 COSM5425520;COSM5425519 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.144 0.252 T 0.059 0.216 B 0.09 0.283 B 0.000 0.629 N 0.000 0.588 P 1.075 0.273 L 0.44 0.606 T -0.6 0.185 N 0.028 0.147 -0.917 0.460 T 0.000 0.000 T . . . 0.580 0.149 8.014 0.976 0.341 0.926 0.558 D c -0.489 -0.431 1.000 0.480 0.672 0.522 0 2.77 0.315 3.416 0.522 0.065 0.171 0.996 0.391 0.069 0.175 11.119 0.473 Cadherin-like;Cadherin|Cadherin-like . . 0.4877 0.2200 0.4517 0.5860 0.1458 0.4937 0.5801 0.5108 0.4772 0.4354 0.2282 0.4594 0.5596 0.1415 0.4957 0.5652 0.5020 het 4086.64 247 4 187629538 . C T 4086.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.298;DP=247;DS;Dels=0.00;FS=1.615;HRun=0;HaplotypeScore=5.8667;MQ=59.43;MQ0=0;MQRankSum=-0.237;QD=16.55;ReadPosRankSum=-0.264;VQSLOD=4.7769;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,125:247:99:3418,0,3574 4 187629770 187629770 A C exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon2:c.T1212G:p.S404R 0.4 0.21 0.57 0.22 0.64 0.47 0.5576 0.2687 0.5264 0.2297 0.6316 0.6535 0.5757 0.5038 0.54 0.3 0.65 0.28 . rs3733414 COSM4003045;COSM4003044 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.531 0.078 T 0.134 0.257 B 0.032 0.208 B 0.001 0.394 N 1 0.090 P 1.32 0.331 L -1.75 0.835 D -0.64 0.326 N 0.142 0.458 -0.899 0.481 T 0.000 0.000 T . . . 0.506 0.143 7.479 0.949 0.252 0.781 0.382 D c -0.550 -0.435 0.993 0.331 0.638 0.428 0 1.45 0.216 0.450 0.213 0.128 0.215 0.921 0.317 0.626 0.294 9.222 0.364 Cadherin|Cadherin-like . . 0.5600 0.2736 0.5371 0.6266 0.2279 0.6272 0.6518 0.5808 0.5065 0.5191 0.2812 0.5453 0.6 0.2302 0.6335 0.6523 0.6186 het 2603.30 211 4 187629770 . A C 2603.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.289;DP=211;Dels=0.00;FS=1.097;HRun=1;HaplotypeScore=5.3865;MQ=58.91;MQ0=0;MQRankSum=-0.444;QD=12.34;ReadPosRankSum=0.288;VQSLOD=5.3989;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,101:211:99:2633,0,2787 4 187630590 187630590 G A exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon2:c.C392T:p.A131V 0.26 0.4 0.12 0.28 0.13 0.29 0.1798 0.3642 0.1113 0.2676 0.1152 0.1326 0.1849 0.2891 0.2 0.34 0.14 0.36 . rs3733415 COSM4416273;COSM4416272 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.002 0.721 D 0.904 0.479 P 0.273 0.383 B 0.001 0.398 N 0.003 0.439 P 2.775 0.813 M 0.21 0.600 T -2.5 0.681 D 0.147 0.387 -1.016 0.249 T 0.000 0.000 T . . . 3.251 0.450 22.8 0.999 0.944 0.955 0.648 D c 0.427 0.412 1.000 0.747 0.672 0.522 0 5.2 0.716 6.493 0.734 0.998 0.613 1.000 0.715 0.155 0.206 18.505 0.908 Cadherin|Cadherin-like ENSG00000083857.9|ENSG00000083857.9|ENSG00000083857.9 Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial 0.1757 0.3653 0.1113 0.1771 0.2706 0.1190 0.1349 0.1720 0.2882 0.2063 0.3610 0.1196 0.1523 0.2834 0.1160 0.1377 0.1670 het 2495.36 220 4 187630590 . G A 2495.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.288;DP=220;DS;Dels=0.00;FS=2.365;HRun=0;HaplotypeScore=4.8395;MQ=59.31;MQ0=0;MQRankSum=0.664;QD=11.34;ReadPosRankSum=-0.681;VQSLOD=5.5898;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:118,101:220:99:2525,0,2925 4 189012728 189012728 G C exonic TRIML2 synonymous SNV TRIML2:NM_173553:exon7:c.C1113G:p.G371G,TRIML2:NM_001303419:exon8:c.C1188G:p.G396G 0.71 0.82 0.57 0.91 0.46 0.72 0.5575 0.7675 0.5194 0.9187 0.4852 0.4674 0.5341 0.6566 0.56 0.76 0.46 0.73 0.47 rs2279550 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5520 0.7718 0.5219 0.5437 0.9183 0.4797 0.4623 0.5099 0.6583 0.5856 0.7521 0.5264 0.5433 0.9370 0.4837 0.4826 0.5285 het 3129.33 241 4 189012728 . G C 3129.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.918;DP=241;Dels=0.00;FS=1.020;HRun=2;HaplotypeScore=3.9058;MQ=58.78;MQ0=0;MQRankSum=-0.926;QD=12.98;ReadPosRankSum=-1.234;VQSLOD=4.6894;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:123,117:241:99:3159,0,3109 4 189061024 189061024 G A exonic TRIML1 synonymous SNV TRIML1:NM_178556:exon1:c.G312A:p.A104A 0.068 0.21 0.029 0.001 0.018 0.025 0.0348 0.1878 0.0205 0.0002 0.0029 0.0244 0.0279 0.0230 0.079 0.18 0.026 0.076 0.033 rs73023226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0310 0.1871 0.0215 0.0466 0.0002 0.0034 0.0236 0.0354 0.0225 0.0679 0.1915 0.0310 0.0397 0 0.0040 0.0234 0.0295 het 1561.28 120 4 189061024 . G A 1561.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.920;DP=120;Dels=0.00;FS=11.462;HRun=0;HaplotypeScore=1.8583;MQ=59.81;MQ0=0;MQRankSum=-0.444;QD=13.01;ReadPosRankSum=-0.173;VQSLOD=3.7870;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,60:120:99:1591,0,1453 4 190862182 190862182 C T exonic FRG1 synonymous SNV FRG1:NM_004477:exon1:c.C18T:p.Y6Y 0.46 0.77 0.28 0.39 0.32 0.4 0.3495 0.7341 0.2001 0.3804 0.3006 0.3133 0.3430 0.3622 0.46 0.73 0.32 0.087 0.25 rs2411530 COSM3760550 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3385 0.7371 0.2156 0.3423 0.3767 0.3011 0.3148 0.3431 0.3643 0.4277 0.7254 0.2772 0.3377 0.3840 0.3011 0.3034 0.3443 hom 2187.22 72 4 190862182 . C T 2187.22 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.54;MQ0=0;QD=30.38;VQSLOD=8.7444;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2220,178,0 5 163260 163260 A C exonic PLEKHG4B nonsynonymous SNV PLEKHG4B:NM_052909:exon13:c.A3073C:p.T1025P 0.97 1. 1. 0.85 1. 1. 0.9882 0.9987 0.9986 0.8530 0.9989 0.9993 0.9909 0.9969 1. 1. 1. 0.97 0.61 rs29674 . . . . . . . . . . . . . 0.312 0.139 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.695 0.019 N 1.57 0.293 T 0.81 0.018 N 0.039 0.019 -1.036 0.185 T 0.000 0.000 T . . . -1.091 0.029 0.010 0.126 0.002 0.001 0.009 N c -1.444 -1.471 0.997 0.354 0.537 0.215 0 -0.258 0.123 -0.594 0.058 -0.920 0.025 0.000 0.063 0.001 0.043 7.346 0.257 . . . 0.9870 0.9996 0.9997 1 0.8470 0.9998 0.9998 0.9923 0.9973 0.9911 0.9995 1 1 0.8350 0.9997 0.9999 0.9980 hom 925.82 29 5 163260 . A C 925.82 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.614;DP=29;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=-0.299;QD=31.92;ReadPosRankSum=1.614;VQSLOD=8.3649;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,28:29:78.23:959,78,0 5 174106 174106 G A exonic PLEKHG4B nonsynonymous SNV PLEKHG4B:NM_052909:exon18:c.G4295A:p.R1432Q 0.34 0.088 0.38 0.27 0.5 0.55 0.4992 0.1783 0.3987 0.2857 0.5369 0.5683 0.4937 0.5576 0.42 0.17 0.55 0.3 0.51 rs4956987 COSM3761114;COSM3761115 1(breast);1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.994 0.647 D 0.862 0.595 P . . . 0.981 0.251 P 1.935 0.520 L 2.79 0.112 T -1.63 0.391 N 0.05 0.031 -0.916 0.461 T 0.000 0.000 T . . . 3.325 0.458 22.9 0.998 0.893 0.738 0.358 D c -0.124 -0.213 0.990 0.318 0.672 0.522 0 0.527 0.162 3.529 0.530 -0.792 0.032 1.000 0.715 0.935 0.408 7.067 0.242 PH domain-like|Pleckstrin homology domain ENSG00000153404.9|ENSG00000073578.12 Lung|Testis 0.4673 0.1546 0.3560 0.469 0.2496 0.4992 0.5515 0.4742 0.5352 0.4109 0.1638 0.3831 0.4338 0.2748 0.4971 0.5439 0.5082 hom 927.03 27 5 174106 . G A 927.03 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;QD=34.33;VQSLOD=9.7618;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:75.24:960,75,0 5 181660 181660 T G exonic PLEKHG4B synonymous SNV PLEKHG4B:NM_052909:exon19:c.T4434G:p.G1478G 0.44 0.29 0.48 0.26 0.63 0.6 0.5746 0.3484 0.4760 0.2420 0.6674 0.6570 0.5563 0.5914 0.56 0.36 0.66 0.46 0.63 rs7717970 COSM3761182 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5709 0.3440 0.4815 0.5356 0.2361 0.6654 0.6598 0.5659 0.5902 0.5567 0.3571 0.4880 0.5530 0.2571 0.6700 0.6775 0.6360 hom 5662.73 178 5 181660 . T G 5662.73 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.5184;MQ=59.11;MQ0=0;QD=31.81;VQSLOD=8.7175;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:5662,448,0 5 181730 181730 C G exonic PLEKHG4B nonsynonymous SNV PLEKHG4B:NM_052909:exon19:c.C4504G:p.R1502G 0.33 0.082 0.37 0.26 0.5 0.54 0.4659 0.1533 0.3535 0.2409 0.4968 0.5440 0.4536 0.5324 0.42 0.16 0.55 0.3 0.51 rs12519352 COSM3761183 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.013 0.538 D 0.997 0.689 D 0.859 0.594 P . . . 1.000 0.201 P 0 0.065 N 1.17 0.379 T -1.42 0.350 N 0.163 0.196 -0.965 0.383 T 0.000 0.000 T . . . 1.995 0.301 16.18 0.935 0.227 0.836 0.424 D c -0.202 -0.319 0.997 0.350 0.707 0.730 0 3.21 0.358 1.313 0.330 0.422 0.276 0.994 0.380 0.001 0.043 7.717 0.277 . ENSG00000153404.9|ENSG00000248925.1|ENSG00000073578.12 Lung|Testis|Testis 0.4620 0.1490 0.3563 0.4584 0.2358 0.4933 0.5464 0.4677 0.5315 0.4048 0.1601 0.3816 0.4470 0.2571 0.4908 0.5375 0.4980 hom 6977.06 227 5 181730 . C G 6977.06 Mask AC=2;AF=1.00;AN=2;DP=227;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.8135;MQ=59.47;MQ0=0;QD=30.74;VQSLOD=8.5400;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,227:227:99:6976,572,0 5 181762 181762 A G exonic PLEKHG4B synonymous SNV PLEKHG4B:NM_052909:exon19:c.A4536G:p.R1512R 0.44 0.27 0.48 0.26 0.63 0.61 0.5757 0.3269 0.4759 0.2416 0.6681 0.6584 0.5597 0.6065 0.55 0.34 0.66 0.43 0.63 rs11133847 COSM3761184 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5720 0.3225 0.4811 0.5358 0.2361 0.6657 0.6614 0.5676 0.6048 0.5521 0.3377 0.4857 0.5530 0.2568 0.6696 0.6792 0.6391 hom 5702.54 175 5 181762 . A G 5702.54 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9198;MQ=59.23;MQ0=0;QD=32.59;VQSLOD=9.9482;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5702,445,0 5 223646 223646 A T exonic SDHA nonsynonymous SNV SDHA:NM_001294332:exon2:c.A113T:p.D38V,SDHA:NM_001330758:exon2:c.A113T:p.D38V,SDHA:NM_004168:exon2:c.A113T:p.D38V 0.019 . 0.016 . 0.032 0.051 0.0353 0.0062 0.0115 0 0.0271 0.0442 0.0198 0.0568 0.033 0.0079 0.046 . 0.049 rs34635677 COSM5020478 1(soft_tissue) Benign|Benign|Benign|Likely benign|Likely benign|Likely benign Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified|Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency RCV000210535.2|RCV000210535.2|RCV000245657.1|RCV000295347.1|RCV000352522.1|RCV000387287.1 MedGen:OMIM:Orphanet|MedGen:OMIM|MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet C1855008:252011:ORPHA3208|C3279992:614165|CN169374|C0031511:171300|C0023264:256000:ORPHA506:29570005|C1855008:252011:ORPHA3208 . . . . . . 0.614 0.059 T 0.001 0.067 B 0.002 0.063 B 0.023 0.266 U 1 0.090 N 0.46 0.130 N -0.6 0.718 T 0.2 0.084 N 0.361 0.422 -1.079 0.076 T 0.039 0.170 T . . . 0.820 0.172 9.589 0.864 0.160 0.598 0.308 D c -0.596 -0.511 1.000 0.480 0.732 0.924 0 1.56 0.223 2.737 0.468 0.233 0.259 0.989 0.365 0.832 0.347 8.397 0.315 . . . 0.0353 0.0064 0.0132 0.0514 5.798e-05 0.0253 0.0458 0.0308 0.0585 0.0291 0.0080 0.0227 0.0364 0 0.0260 0.0444 0.0448 het 1135.83 134 5 223646 . A T 1135.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.545;DP=134;Dels=0.00;FS=1.436;HRun=1;HaplotypeScore=1.6828;MQ=56.54;MQ0=0;MQRankSum=1.448;QD=8.48;ReadPosRankSum=-0.623;VQSLOD=2.9270;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,51:134:99:1166,0,2005 5 231111 231111 T C exonic SDHA synonymous SNV SDHA:NM_001294332:exon6:c.T747C:p.P249P,SDHA:NM_001330758:exon7:c.T891C:p.P297P,SDHA:NM_004168:exon7:c.T891C:p.P297P 0.65 0.79 0.69 0.34 0.75 0.68 0.7078 0.7843 0.6455 0.3281 0.7652 0.7574 0.6872 0.6801 0.77 0.79 0.76 0.62 0.7 rs1126417 COSM4159838 1(thyroid) other|Benign|Likely benign|Likely benign|Likely benign not_specified|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|Leigh_syndrome RCV000118321.3|RCV000162482.1|RCV000308030.1|RCV000347829.1|RCV000400279.1 MedGen|MedGen:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0027672:699346009|C0031511:171300|C1855008:252011:ORPHA3208|C0023264:256000:ORPHA506:29570005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7014 0.7879 0.6539 0.6961 0.3200 0.7581 0.7575 0.7124 0.6797 0.7402 0.7825 0.6516 0.7067 0.3323 0.7666 0.7589 0.7423 hom 3352.04 102 5 231111 . T C 3352.04 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8490;MQ=57.71;MQ0=0;QD=32.86;VQSLOD=7.5629;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3352,259,0 5 311478 311478 T C exonic PDCD6 synonymous SNV PDCD6:NM_001267557:exon3:c.T234C:p.I78I,PDCD6:NM_001267556:exon5:c.T432C:p.I144I,PDCD6:NM_013232:exon5:c.T438C:p.I146I,PDCD6:NM_001267558:exon6:c.T228C:p.I76I 0.61 0.78 0.56 0.26 0.7 0.65 0.6527 0.7672 0.5163 0.2552 0.6990 0.7049 0.6150 0.6578 0.73 0.78 0.71 0.61 0.66 rs2244029 COSM1486710;COSM449516 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6420 0.7718 0.5288 0.5910 0.2490 0.6965 0.7090 0.6398 0.6558 0.7010 0.7697 0.5489 0.6026 0.2633 0.7022 0.7192 0.6908 hom 2595.87 89 5 311478 . T C 2595.87 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3326;MQ=59.53;MQ0=0;QD=29.17;VQSLOD=8.2981;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2629,232,0 5 422955 422955 C G exonic AHRR nonsynonymous SNV AHRR:NM_001242412:exon6:c.C565G:p.P189A,AHRR:NM_020731:exon6:c.C565G:p.P189A . . . . . . 0.3802 0.1422 0.2537 0.3970 0.4505 0.4078 0.4319 0.4598 0.3 0.15 0.38 0.24 0.38 rs2292596 COSM1600015 1(haematopoietic_and_lymphoid_tissue);2(thyroid);2(central_nervous_system);1(biliary_tract) . . . . . . . . . . . 0.072 0.386 T 0.932 0.500 P 0.647 0.505 P 0.000 0.463 D 0.998 0.222 P 2.175 0.612 M 2.24 0.221 T -2.21 0.496 N 0.092 0.327 -0.931 0.441 T 0.000 0.000 T . . . 0.196 0.113 4.639 0.577 0.057 0.676 0.332 D c -0.421 -0.478 0.984 0.307 0.632 0.406 0 3.08 0.344 0.914 0.280 0.077 0.185 0.970 0.340 0.080 0.181 4.648 0.119 . ENSG00000180104.11|ENSG00000225138.3|ENSG00000225138.3|ENSG00000180104.11 Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.3754 0.1407 0.2535 0.4325 0.3943 0.4551 0.3990 0.3960 0.4493 0.3333 0.1501 0.2955 0.4371 0.3945 0.4542 0.4007 0.3998 het 558.82 60 5 422955 . C G 558.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.718;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.412;QD=9.31;ReadPosRankSum=0.563;VQSLOD=10.9401;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,24:60:99:589,0,1019 5 434722 434722 G C exonic AHRR nonsynonymous SNV AHRR:NM_001242412:exon11:c.G1879C:p.D627H,AHRR:NM_020731:exon12:c.G1933C:p.D645H 0.15 0.011 0.24 0.004 0.4 0.19 0.3371 0.0927 0.3670 0.0296 0.4987 0.4290 0.2831 0.2517 0.27 0.071 0.36 0.13 0.14 rs34453673 COSM1437716 1(liver);1(prostate);1(large_intestine) . . . . . . . . . . . 0.712 0.063 T 0.0 0.026 B 0.0 0.013 B 0.748 0.097 N 1 0.090 P -1.385 0.006 N 2.33 0.217 T 2.34 0.004 N 0.03 0.044 -0.902 0.478 T 0.000 0.000 T . . . 0.183 0.111 4.501 0.069 0.000 0.006 0.025 N c -1.348 -1.288 1.000 0.747 0.672 0.522 0 3.32 0.370 0.667 0.246 -0.084 0.118 0.001 0.137 0.000 0.016 5.054 0.138 . ENSG00000180104.11|ENSG00000221990.2|ENSG00000221990.2|ENSG00000180104.11|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000180104.11|ENSG00000180104.11|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000188242.4|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000221990.2|ENSG00000221990.2|ENSG00000180104.11|ENSG00000180104.11|ENSG00000225138.3|ENSG00000221990.2|ENSG00000180104.11|ENSG00000180104.11|ENSG00000250645.1|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000225138.3|ENSG00000221990.2|ENSG00000180104.11|ENSG00000225138.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Prostate|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2938 0.0616 0.2776 0.2470 0.0042 0.3928 0.3853 0.2680 0.2358 0.2754 0.0694 0.2768 0.2483 0.0025 0.3954 0.3923 0.3528 het 57.29 15 5 434722 . G C 57.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.024;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=1.110;QD=3.82;ReadPosRankSum=0.979;VQSLOD=4.5361;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,4:15:87.29:87,0,306 5 453567 453567 G A exonic EXOC3 synonymous SNV EXOC3:NM_007277:exon4:c.G447A:p.E149E 0.58 0.8 0.49 0.53 0.45 0.51 0.5554 0.7632 0.4959 0.5556 0.5490 0.5334 0.5835 0.5538 0.58 0.76 0.49 0.6 . rs2672722 COSM3761243 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5131 0.7573 0.4301 0.5859 0.5181 0.5224 0.4910 0.5377 0.5257 0.5689 0.7546 0.4642 0.5828 0.5275 0.5195 0.4868 0.5031 het 330.78 39 5 453567 . G A 330.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.650;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8936;MQ=60.00;MQ0=0;MQRankSum=0.747;QD=8.48;ReadPosRankSum=-1.186;VQSLOD=5.7279;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,14:39:99:361,0,799 5 475104 475104 A G exonic SLC9A3 nonsynonymous SNV SLC9A3:NM_001284351:exon16:c.T2368C:p.C790R,SLC9A3:NM_004174:exon16:c.T2395C:p.C799R . . . . . . 0.8253 0.8684 0.7179 0.5365 0.9146 0.8798 0.8261 0.7703 0.87 0.87 0.87 0.77 0.7 rs2247114 COSM4006021 1(urinary_tract);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.474 0.122 N 0.161 0.350 P -2.28 0.001 N -0.3 0.679 T 3.25 0.001 N 0.014 0.005 -0.960 0.393 T 0.000 0.000 T . . . 0.220 0.115 4.887 0.561 0.054 0.154 0.187 N c -1.056 -0.773 1.000 0.747 0.726 0.872 0 3.84 0.433 1.546 0.356 0.076 0.183 0.995 0.385 0.840 0.350 7.296 0.254 . ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000066230.6|ENSG00000225138.3|ENSG00000180104.11|ENSG00000225138.3|ENSG00000066230.6|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000221990.2|ENSG00000180104.11|ENSG00000180104.11|ENSG00000225138.3|ENSG00000066230.6|ENSG00000180104.11|ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000180104.11|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000180104.11|ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3|ENSG00000225138.3|ENSG00000066230.6|ENSG00000066230.6|ENSG00000221990.2|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000221990.2|ENSG00000225138.3|ENSG00000066230.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.8144 0.8656 0.7087 0.8339 0.5213 0.9177 0.8765 0.8196 0.7692 0.8586 0.8671 0.7380 0.8344 0.5305 0.9151 0.8827 0.8650 hom 632.06 23 5 475104 . A G 632.06 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=27.48;VQSLOD=8.2726;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.16:665,57,0 5 476353 476353 C T exonic SLC9A3 synonymous SNV SLC9A3:NM_001284351:exon13:c.G2004A:p.A668A,SLC9A3:NM_004174:exon13:c.G2031A:p.A677A 0.21 0.14 0.31 0.035 0.41 0.22 0.3205 0.1775 0.3441 0.0455 0.3964 0.3840 0.3053 0.2523 0.32 0.18 0.39 0.22 0.27 rs2230437 COSM1132153 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3236 0.1736 0.3454 0.2677 0.0418 0.3964 0.3908 0.3088 0.2559 0.3148 0.1764 0.3365 0.2616 0.0543 0.3978 0.4001 0.3755 het 1346.63 95 5 476353 . C T 1346.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.063;DP=95;Dels=0.00;FS=11.433;HRun=0;HaplotypeScore=3.8726;MQ=59.80;MQ0=0;MQRankSum=-0.258;QD=14.18;ReadPosRankSum=0.765;VQSLOD=4.0976;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,45:95:99:1377,0,1319 5 482186 482186 C G exonic SLC9A3 synonymous SNV SLC9A3:NM_001284351:exon8:c.G1416C:p.G472G,SLC9A3:NM_004174:exon8:c.G1443C:p.G481G 0.81 0.98 0.8 0.58 0.88 0.76 0.8631 0.9637 0.8020 0.5850 0.9238 0.9033 0.8780 0.8049 0.92 0.96 0.9 0.47 0.62 rs9885312 COSM4159883 4(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8390 0.9492 0.7776 0.8652 0.5531 0.9167 0.8868 0.8452 0.7892 0.8986 0.9629 0.8128 0.8921 0.5713 0.9201 0.8977 0.8861 hom 831.36 27 5 482186 . C G 831.36 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9336;MQ=56.10;MQ0=0;QD=30.79;VQSLOD=3.5814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:27:66.21:864,66,0 5 639231 639231 C A exonic CEP72 nonsynonymous SNV CEP72:NM_018140:exon8:c.C1234A:p.P412T 0.09 0.0045 0.11 0.0099 0.19 0.17 0.1489 0.0328 0.1601 0.0052 0.1371 0.1781 0.1670 0.1736 0.14 0.038 0.2 0.065 0.15 rs12522955 COSM4159929 1(thyroid) . . . . . . . . . . . 0.068 0.357 T 0.987 0.600 D 0.755 0.544 P 0.013 0.291 N 1 0.225 P 1.525 0.387 L 1.44 0.327 T -2.94 0.614 D 0.084 0.078 -1.041 0.169 T 0.000 0.000 T . . . 2.170 0.322 17.31 0.883 0.173 0.153 0.187 N c -0.314 -0.493 0.961 0.285 0.718 0.821 0 3.58 0.400 0.923 0.282 0.016 0.142 0.002 0.151 0.002 0.062 8.978 0.349 . ENSG00000268885.1|ENSG00000112877.6|ENSG00000268885.1|ENSG00000268885.1|ENSG00000271781.1|ENSG00000066230.6|ENSG00000271781.1|ENSG00000225138.3|ENSG00000066230.6|ENSG00000268885.1|ENSG00000268885.1|ENSG00000112877.6|ENSG00000180104.11|ENSG00000268885.1|ENSG00000268885.1|ENSG00000112877.6|ENSG00000268885.1|ENSG00000112877.6|ENSG00000271781.1|ENSG00000268885.1|ENSG00000112877.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000268885.1|ENSG00000225138.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1507 0.0308 0.1624 0.1428 0.0045 0.1334 0.1841 0.1470 0.1743 0.1193 0.0319 0.1432 0.1523 0.0025 0.1272 0.1762 0.1660 het 1476.49 113 5 639231 . C A 1476.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.286;DP=113;Dels=0.00;FS=2.469;HRun=1;HaplotypeScore=8.6969;MQ=58.65;MQ0=0;MQRankSum=2.495;QD=13.07;ReadPosRankSum=-0.864;VQSLOD=3.5201;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,56:113:99:1506,0,1650 5 665280 665280 T C exonic TPPP synonymous SNV TPPP:NM_007030:exon4:c.A597G:p.S199S 0.72 0.93 0.7 0.69 0.61 0.61 0.6335 0.8893 0.7337 0.6664 0.5005 0.5895 0.6397 0.6145 0.7 0.89 0.61 0.66 0.63 rs1697963 COSM1438473 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6326 0.8920 0.7272 0.6892 0.6640 0.4966 0.5929 0.6197 0.6087 0.6623 0.8848 0.6993 0.7053 0.6665 0.4943 0.5713 0.6153 het 1151.37 143 5 665280 . T C 1151.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.968;DP=143;Dels=0.00;FS=9.501;HRun=2;HaplotypeScore=3.7347;MQ=60.00;MQ0=0;MQRankSum=1.077;QD=8.05;ReadPosRankSum=0.125;VQSLOD=3.7528;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,50:143:99:1181,0,2684 5 665295 665295 A G exonic TPPP synonymous SNV TPPP:NM_007030:exon4:c.T582C:p.D194D 0.096 0.0061 0.16 0.021 0.19 0.15 0.1529 0.0316 0.2372 0.0140 0.1362 0.1744 0.1704 0.1622 0.14 0.038 0.2 0.054 0.15 rs61731455 COSM1438474 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1589 0.0305 0.2377 0.1499 0.0119 0.1317 0.1807 0.1561 0.1630 0.1202 0.0316 0.2010 0.1556 0.0062 0.1266 0.1744 0.1663 het 1283.89 138 5 665295 . A G 1283.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.240;DP=138;Dels=0.00;FS=9.749;HRun=1;HaplotypeScore=0.9987;MQ=60.00;MQ0=0;MQRankSum=0.318;QD=9.30;ReadPosRankSum=-0.049;VQSLOD=3.8823;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,51:138:99:1314,0,2324 5 678062 678062 A G exonic TPPP synonymous SNV TPPP:NM_007030:exon2:c.T114C:p.A38A 0.75 0.97 0.7 0.66 0.65 0.71 0.6676 0.9245 0.6815 0.6605 0.5643 0.6278 0.6551 0.6979 0.74 0.92 0.64 0.69 0.61 rs450628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6567 0.9290 0.6753 0.6809 0.6530 0.5439 0.6267 0.6378 0.6891 0.7005 0.9220 0.6945 0.7417 0.6586 0.5539 0.6133 0.6434 het 542.98 50 5 678062 . A G 542.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.975;DP=50;Dels=0.00;FS=3.457;HRun=1;HaplotypeScore=1.9459;MQ=58.40;MQ0=0;MQRankSum=-0.585;QD=10.86;ReadPosRankSum=-1.098;VQSLOD=4.5628;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,19:50:99:573,0,895 5 766939 766939 G A exonic ZDHHC11B synonymous SNV ZDHHC11B:NM_001351303:exon1:c.C96T:p.N32N . . . . . . 0.2514 0.2938 0.1408 0.1789 0.2131 0.2807 0.2171 0.2394 . . . 0.22 . rs4957103 COSM450069 1(breast);1(thyroid);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2437 0.2869 0.1555 0.2802 0.1556 0.2054 0.2848 0.2408 0.2351 0.2547 0.2726 0.1626 0.2467 0.1422 0.2060 0.2737 0.2447 het 1552.28 127 5 766939 . G A 1552.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.853;DP=127;Dels=0.00;FS=5.580;HRun=0;HaplotypeScore=8.8345;MQ=57.68;MQ0=0;MQRankSum=1.330;QD=12.22;ReadPosRankSum=1.769;VQSLOD=2.5476;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:64,63:127:99:1582,0,1563 5 767033 767033 A C exonic ZDHHC11B startloss ZDHHC11B:NM_001351303:exon1:c.T2G:p.D2_M103del 0.78 0.76 0.8 0.84 0.73 0.78 0.7525 0.7380 0.8644 0.8125 0.7876 0.7211 0.7904 0.7618 . . . 0.81 . rs1809932 . . . . . . . . . . . . . 0.002 0.721 D . . . . . . . . . 0.000 0.810 P . . . 1.46 0.322 T -1.85 0.454 N 0.346 0.543 -1.072 0.089 T 0.000 0.000 T . . . 2.803 0.398 21.4 0.944 0.242 0.746 0.362 D c -0.483 -0.616 0.452 0.205 0.581 0.326 0 1.56 0.223 1.803 0.383 0.099 0.198 0.854 0.303 0.003 0.074 4.527 0.113 . ENSG00000225138.3|ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3 Colon_Transverse|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7537 0.7376 0.8449 0.7185 0.8179 0.7896 0.7120 0.7585 0.7611 0.7457 0.7457 0.8353 0.75 0.8165 0.7896 0.7223 0.7490 het 1337.84 80 5 767033 . A C 1337.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.672;DP=80;Dels=0.00;FS=1.241;HRun=2;HaplotypeScore=4.7849;MQ=58.38;MQ0=0;MQRankSum=-0.365;QD=16.72;ReadPosRankSum=-0.599;VQSLOD=4.0077;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:34,46:80:99:1368,0,887 5 1057615 1057615 A G exonic SLC12A7 synonymous SNV SLC12A7:NM_006598:exon22:c.T2997C:p.S999S 0.49 0.24 0.63 0.48 0.64 0.61 0.6137 0.2948 0.6437 0.5096 0.6357 0.6566 0.6537 0.6641 0.53 0.3 0.65 0.5 0.57 rs2241606 COSM3760857 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6159 0.2867 0.6293 0.5213 0.5071 0.6335 0.6644 0.6390 0.6642 0.5504 0.3119 0.6086 0.5265 0.5130 0.6473 0.6600 0.6721 het 3188.42 247 5 1057615 . A G 3188.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.304;DP=247;DS;Dels=0.00;FS=2.238;HRun=1;HaplotypeScore=5.4583;MQ=59.00;MQ0=0;MQRankSum=-0.523;QD=12.91;ReadPosRankSum=-2.839;VQSLOD=3.8830;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:116,131:247:99:3218,0,3258 5 1063998 1063998 G A exonic SLC12A7 synonymous SNV SLC12A7:NM_006598:exon20:c.C2700T:p.Y900Y 0.3 0.029 0.36 0.32 0.45 0.43 0.4180 0.0927 0.3700 0.3203 0.5083 0.4714 0.4607 0.4531 0.35 0.1 0.47 0.043 0.48 rs7722287 COSM448401 2(haematopoietic_and_lymphoid_tissue);4(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4237 0.0866 0.3721 0.3735 0.3200 0.5123 0.4797 0.4205 0.4548 0.3719 0.1004 0.3623 0.3792 0.3441 0.5069 0.4958 0.4761 het 2150.17 208 5 1063998 . G A 2150.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.641;DP=208;Dels=0.00;FS=0.537;HRun=0;HaplotypeScore=4.7269;MQ=58.34;MQ0=0;MQRankSum=0.466;QD=10.34;ReadPosRankSum=0.575;VQSLOD=5.4948;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:111,97:208:99:2180,0,2592 5 1065514 1065514 A G exonic SLC12A7 nonsynonymous SNV SLC12A7:NM_006598:exon18:c.T2321C:p.M774T 0.0052 . 0.0014 . 0.021 0.0041 0.0135 0.0031 0.0052 0 0.0188 0.0200 0.0146 0.0048 0.016 0.0032 0.023 0.011 0.033 rs56350427 . . . . . . . . . . . . . 0.155 0.241 T 0.0 0.026 B 0.001 0.040 B 0.094 0.202 N 0.995 0.234 N -0.545 0.025 N -3.22 0.934 D -1.66 0.397 N 0.085 0.448 -0.637 0.633 T 0.259 0.630 T . . . 0.690 0.160 8.764 0.793 0.122 0.247 0.223 N c -0.837 -0.756 0.686 0.225 0.707 0.730 0 0.507 0.161 1.506 0.351 -0.265 0.087 0.035 0.205 0.448 0.262 7.179 0.248 SLC12A transporter\x2c C-terminal . . 0.0141 0.0033 0.0064 0.0057 0 0.0176 0.0228 0.0132 0.0050 0.0133 0.0026 0.0072 0.0066 0 0.0183 0.0205 0.0102 het 1344.02 96 5 1065514 . A G 1344.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.540;DP=96;Dels=0.00;FS=0.771;HRun=0;HaplotypeScore=3.8640;MQ=56.93;MQ0=0;MQRankSum=1.246;QD=14.00;ReadPosRankSum=-0.114;VQSLOD=3.5289;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,52:96:99:1374,0,1073 5 1081702 1081702 A G exonic SLC12A7 synonymous SNV SLC12A7:NM_006598:exon9:c.T1287C:p.P429P 0.42 0.48 0.32 0.36 0.48 0.42 0.4624 0.4940 0.3371 0.3625 0.5609 0.4868 0.5 0.4428 0.49 0.5 0.49 0.43 0.4 rs6865765 COSM3760859 5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4566 0.4917 0.3434 0.3603 0.3667 0.5559 0.4926 0.4518 0.4420 0.5041 0.5011 0.3413 0.3344 0.3803 0.5704 0.5144 0.5327 het 1737.99 105 5 1081702 . A G 1737.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.422;DP=105;Dels=0.00;FS=4.301;HRun=3;HaplotypeScore=2.8911;MQ=59.78;MQ0=0;MQRankSum=0.226;QD=16.55;ReadPosRankSum=-0.114;VQSLOD=5.7733;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,63:105:99:1768,0,1141 5 1081767 1081767 C T exonic SLC12A7 nonsynonymous SNV SLC12A7:NM_006598:exon9:c.G1222A:p.A408T 0.53 0.33 0.65 0.67 0.52 0.59 0.5291 0.3405 0.6550 0.6743 0.4407 0.5154 0.4911 0.5749 0.46 0.34 0.51 0.51 0.54 rs4526148 COSM4159348 1(thyroid) . . . . . . . . . . . 0.55 0.066 T 0.0 0.026 B 0.0 0.013 B 0.997 0.079 N 1 0.090 P 0.695 0.181 N -1.85 0.843 D -0.41 0.140 N 0.002 0.000 -0.943 0.422 T 0.000 0.000 T . . . -0.283 0.070 0.724 0.863 0.159 0.020 0.059 N c -1.563 -1.575 0.012 0.123 0.706 0.609 0 -0.282 0.122 0.719 0.254 -0.493 0.052 0.003 0.159 0.000 0.016 3.716 0.079 . ENSG00000113504.15 Whole_Blood 0.5353 0.3378 0.6477 0.6387 0.6669 0.4449 0.5069 0.5413 0.5711 0.4515 0.3424 0.6495 0.6623 0.6459 0.4298 0.4831 0.4603 het 1540.71 132 5 1081767 . C T 1540.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.602;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8633;MQ=59.22;MQ0=0;MQRankSum=0.342;QD=11.67;ReadPosRankSum=0.347;VQSLOD=6.8227;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,61:132:99:1571,0,1830 5 1208964 1208964 T C exonic SLC6A19 synonymous SNV SLC6A19:NM_001003841:exon2:c.T306C:p.G102G . . . . . . 0.3697 0.5460 0.5244 0.3500 0.3721 0.3188 0.3690 0.3632 0.39 0.55 0.31 0.42 0.24 rs60992377 COSM4159372 1(thyroid) Likely benign not_specified RCV000118390.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3691 0.5437 0.5133 0.3945 0.3432 0.3684 0.3053 0.3788 0.3586 0.3820 0.5353 0.5 0.4167 0.3195 0.3766 0.2958 0.3480 het 704.59 64 5 1208964 . T C 704.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.602;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1981;MQ=58.62;MQ0=0;MQRankSum=0.658;QD=11.01;ReadPosRankSum=0.725;VQSLOD=5.1797;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,31:64:99:735,0,981 5 1213668 1213668 G A exonic SLC6A19 nonsynonymous SNV SLC6A19:NM_001003841:exon5:c.G754A:p.V252I 0.19 0.32 0.14 0.18 0.13 0.14 0.1576 0.3066 0.1579 0.1583 0.1399 0.1396 0.1584 0.1434 0.2 0.3 0.14 0.2 0.098 rs7732589 COSM5654015 1(haematopoietic_and_lymphoid_tissue) Likely benign not_specified RCV000118391.2 MedGen CN169374 . . . . . . 0.35 0.123 T 0.001 0.067 B 0.002 0.063 B 0.007 0.319 N 0.997 0.229 P 0.525 0.136 N -0.82 0.741 T -0.41 0.140 N 0.058 0.041 -1.050 0.145 T 0.000 0.000 T . . . 1.106 0.200 11.25 0.960 0.278 0.733 0.356 D c -0.672 -0.515 0.999 0.377 0.403 0.052 0 3.03 0.339 1.916 0.394 0.042 0.156 0.979 0.349 0.937 0.410 8.319 0.311 . . . 0.1529 0.2981 0.1578 0.1185 0.1613 0.1301 0.1416 0.1514 0.1392 0.1786 0.2902 0.1499 0.1126 0.1658 0.1257 0.1341 0.1307 het 664.49 54 5 1213668 . G A 664.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.545;DP=54;Dels=0.00;FS=4.029;HRun=0;HaplotypeScore=0.9789;MQ=59.14;MQ0=0;MQRankSum=-0.840;QD=12.31;ReadPosRankSum=-0.978;VQSLOD=5.9744;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,26:54:99:694,0,673 5 1216775 1216775 A G exonic SLC6A19 synonymous SNV SLC6A19:NM_001003841:exon7:c.A990G:p.T330T 0.84 0.88 0.86 0.68 0.96 0.81 0.9028 0.8819 0.8486 0.6955 0.9791 0.9524 0.9205 0.8304 0.93 0.88 0.95 0.86 0.95 rs4975629 COSM149780 1(stomach);1(liver) Likely benign not_specified RCV000118392.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9012 0.8788 0.8467 0.9526 0.6918 0.9767 0.9518 0.9239 0.8308 0.9194 0.8838 0.8592 0.9437 0.6599 0.9780 0.9557 0.9458 hom 4904.97 149 5 1216775 . A G 4904.97 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=32.92;VQSLOD=10.0631;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4904,409,0 5 1225613 1225613 G A exonic SLC6A18 synonymous SNV SLC6A18:NM_182632:exon1:c.G21A:p.P7P 0.74 0.83 0.76 0.56 0.79 0.75 0.7657 0.8173 0.7710 0.5904 0.8350 0.7767 0.7618 0.7496 0.79 0.82 0.78 0.75 0.61 rs7704058 COSM149781 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7651 0.8244 0.7635 0.7139 0.5871 0.8358 0.7794 0.7659 0.7498 0.7904 0.8228 0.7632 0.7384 0.5525 0.8287 0.7909 0.7920 het 661.25 52 5 1225613 . G A 661.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.305;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=57.38;MQ0=0;MQRankSum=0.198;QD=12.72;ReadPosRankSum=0.857;VQSLOD=6.6038;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,25:52:99:691,0,589 5 1225626 1225626 T A exonic SLC6A18 nonsynonymous SNV SLC6A18:NM_182632:exon1:c.T34A:p.C12S 0.74 0.83 0.76 0.56 0.79 0.75 0.7651 0.8173 0.7725 0.5893 0.8329 0.7758 0.7628 0.7489 0.79 0.82 0.78 0.75 0.69 rs7728667 COSM5452262 1(large_intestine) . . . . . . . . . . . 0.818 0.030 T 0.0 0.026 B 0.0 0.013 B 0.839 0.090 N 1 0.090 P -1.005 0.012 N -0.72 0.730 T 1.58 0.007 N 0.024 0.009 -1.001 0.297 T 0.000 0.000 T . . . -2.466 0.004 0.001 0.530 0.048 0.007 0.030 N c -1.822 -1.878 0.989 0.317 0.487 0.133 0 -5.52 0.023 0.598 0.236 -1.015 0.021 0.000 0.063 0.000 0.016 5.773 0.174 . . . 0.7649 0.8242 0.7641 0.7137 0.5846 0.8355 0.7794 0.7662 0.7497 0.7899 0.8229 0.7608 0.7384 0.5483 0.8287 0.7904 0.7900 het 705.95 63 5 1225626 . T A 705.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.521;DP=63;Dels=0.00;FS=1.329;HRun=0;HaplotypeScore=2.9951;MQ=57.77;MQ0=0;MQRankSum=-1.577;QD=11.21;ReadPosRankSum=-0.050;VQSLOD=3.5479;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,28:63:99:736,0,980 5 1225687 1225687 C T exonic SLC6A18 nonsynonymous SNV SLC6A18:NM_182632:exon1:c.C95T:p.T32I 0.82 0.88 0.86 0.6 0.96 0.82 0.8992 0.8832 0.8480 0.6243 0.9788 0.9520 0.9157 0.8423 0.87 0.79 0.91 0.15 0.94 rs7705355 COSM149782 1(stomach);1(urinary_tract);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.360 0.137 N 1 0.090 P -3.83 0.000 N -0.45 0.699 T 3.73 0.001 N 0.037 0.021 -0.939 0.428 T 0.000 0.000 T . . . -0.709 0.044 0.069 0.453 0.035 0.075 0.134 N c -1.401 -1.145 1.000 0.416 0.487 0.133 0 4.12 0.473 6.089 0.708 0.056 0.163 0.947 0.327 0.008 0.104 9.694 0.391 . . . 0.8983 0.8880 0.8483 0.9539 0.6174 0.9765 0.9518 0.9190 0.8426 0.9159 0.8862 0.8546 0.9437 0.5791 0.9779 0.9557 0.9475 hom 4336.18 139 5 1225687 . C T 4336.18 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2047;MQ=57.40;MQ0=0;QD=31.20;VQSLOD=4.8138;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,138:139:99:4335,352,0 5 1225688 1225688 T C exonic SLC6A18 synonymous SNV SLC6A18:NM_182632:exon1:c.T96C:p.T32T 0.68 0.68 0.74 0.56 0.79 0.67 0.7428 0.6770 0.7663 0.5889 0.8317 0.7754 0.7588 0.6795 0.59 0.6 0.58 . 0.77 rs7728814 COSM149783 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7465 0.6800 0.7593 0.7130 0.5839 0.8355 0.7789 0.7596 0.6829 0.7492 0.6814 0.7584 0.7384 0.5472 0.8286 0.7899 0.7747 het 1631.37 141 5 1225688 . T C 1631.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.464;DP=141;Dels=0.00;FS=3.347;HRun=1;HaplotypeScore=5.2047;MQ=57.43;MQ0=0;MQRankSum=-0.084;QD=11.57;ReadPosRankSum=0.798;VQSLOD=3.6817;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,66:141:99:1661,0,1980 5 1225703 1225703 A G exonic SLC6A18 synonymous SNV SLC6A18:NM_182632:exon1:c.A111G:p.G37G 0.82 0.88 0.86 0.6 0.96 0.82 0.8993 0.8835 0.8487 0.6266 0.9790 0.9520 0.9156 0.8407 0.93 0.89 0.95 0.89 0.94 rs7724858 COSM149784 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8976 0.8875 0.8476 0.9535 0.6169 0.9764 0.9517 0.9180 0.8411 0.9159 0.8860 0.8549 0.9437 0.5788 0.9779 0.9559 0.9487 hom 4753.45 152 5 1225703 . A G 4753.45 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7900;MQ=57.50;MQ0=0;QD=31.27;VQSLOD=7.6678;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,152:152:99:4753,376,0 5 1467004 1467004 A G exonic LPCAT1 nonsynonymous SNV LPCAT1:NM_024830:exon13:c.T1280C:p.M427T 0.17 0.039 0.22 0.13 0.23 0.26 0.2355 0.0760 0.2451 0.1318 0.3173 0.2491 0.2578 0.2950 0.2 0.082 0.26 0.16 0.21 rs35452723 COSM4159609 1(pancreas);1(thyroid) . . . . . . . . . . . 0.002 0.721 D 0.063 0.219 B 0.028 0.201 B 0.000 0.843 D 0.000 0.588 P 2.665 0.782 M -0.27 0.674 T -3.92 0.731 D 0.321 0.810 -1.068 0.098 T 0.000 0.000 T . . . 2.668 0.382 20.6 0.979 0.366 0.957 0.658 D c -0.044 0.012 1.000 0.747 0.707 0.730 0 4.47 0.536 4.624 0.607 1.199 0.960 1.000 0.715 0.459 0.264 12.033 0.525 EF-hand domain pair ENSG00000142319.14 Lung 0.2416 0.0710 0.2525 0.1442 0.1389 0.3138 0.2554 0.2369 0.2943 0.2065 0.0831 0.2428 0.1291 0.1360 0.3153 0.2566 0.2618 het 1148.39 145 5 1467004 . A G 1148.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.809;DP=145;Dels=0.00;FS=3.378;HRun=0;HaplotypeScore=3.8091;MQ=59.32;MQ0=0;MQRankSum=1.470;QD=7.92;ReadPosRankSum=0.468;VQSLOD=4.4651;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,50:145:99:1178,0,2712 5 3600334 3600334 T C exonic IRX1 synonymous SNV IRX1:NM_024337:exon2:c.T1272C:p.N424N 0.85 0.91 0.89 0.76 0.92 0.75 0.8898 0.9113 0.9166 0.7433 0.9017 0.9255 0.9016 0.7873 0.92 0.91 0.92 0.9 0.86 rs844154 COSM4159862 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8861 0.9097 0.9177 0.8537 0.7308 0.8944 0.9283 0.9038 0.7806 0.9021 0.9035 0.9212 0.8212 0.7145 0.8994 0.9230 0.8975 hom 1710.69 60 5 3600334 . T C 1710.69 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;QD=28.51;VQSLOD=8.6294;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1744,150,0 5 5146335 5146335 C G exonic ADAMTS16 nonsynonymous SNV ADAMTS16:NM_139056:exon3:c.C268G:p.P90A 0.7 0.57 0.87 0.5 0.81 0.83 0.7760 0.6248 0.8931 0.5142 0.7498 0.8005 0.8025 0.8304 0.76 0.64 0.82 0.71 0.79 rs2086310 COSM5000715 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.074 0.213 N 1 0.090 P -1.35 0.007 N 3.39 0.057 T 0.71 0.021 N 0.018 0.003 -1.058 0.121 T 0.000 0.000 T . . . -2.667 0.002 0.001 0.377 0.025 0.013 0.044 N c -1.959 -1.852 1.000 0.747 0.563 0.310 0 -0.853 0.101 -0.404 0.072 -1.212 0.016 0.000 0.063 0.000 0.016 2.156 0.035 Peptidase M12B\x2c propeptide . . 0.7842 0.6188 0.8896 0.9170 0.5083 0.7507 0.7992 0.8107 0.8288 0.7374 0.6319 0.8711 0.9172 0.5266 0.7620 0.8022 0.7735 hom 6204.24 189 5 5146335 . C G 6204.24 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=32.83;VQSLOD=9.5619;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:6204,482,0 5 5146377 5146377 T C exonic ADAMTS16 nonsynonymous SNV ADAMTS16:NM_139056:exon3:c.T310C:p.S104P 0.49 0.62 0.6 0.5 0.39 0.35 0.4375 0.5938 0.6942 0.5042 0.4466 0.3847 0.4666 0.3384 0.44 0.57 0.38 0.59 0.39 rs1019747 COSM4003547 1(breast);4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.285 0.152 T 0.0 0.026 B 0.001 0.093 B 0.010 0.302 N 0.999 0.213 P -0.06 0.049 N 3.44 0.054 T -1.29 0.324 N 0.03 0.011 -1.024 0.223 T 0.000 0.000 T . . . 1.450 0.237 13.05 0.962 0.285 0.543 0.293 D c -0.818 -0.696 1.000 0.747 0.707 0.730 0 0.125 0.140 0.242 0.177 -0.247 0.091 0.965 0.337 0.074 0.178 2.485 0.043 Peptidase M12B\x2c propeptide ENSG00000145536.11|ENSG00000145536.11 Cells_Transformed_fibroblasts|Testis 0.4454 0.5984 0.6762 0.3207 0.4963 0.4447 0.3880 0.4328 0.3405 0.4647 0.5946 0.6151 0.3444 0.5130 0.4562 0.3830 0.4201 het 2422.87 196 5 5146377 . T C 2422.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.512;DP=196;Dels=0.00;FS=0.565;HRun=2;HaplotypeScore=5.3823;MQ=59.39;MQ0=0;MQRankSum=1.327;QD=12.36;ReadPosRankSum=-0.912;VQSLOD=4.4755;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,88:196:99:2453,0,3192 5 5146395 5146395 A G exonic ADAMTS16 nonsynonymous SNV ADAMTS16:NM_139056:exon3:c.A328G:p.M110V 0.48 0.35 0.4 0.43 0.61 0.64 0.5537 0.3883 0.3005 0.4224 0.5525 0.6145 0.5244 0.6544 0.55 0.41 0.62 0.39 0.6 rs1863968 COSM4416027;COSM4416026 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.048 0.400 D 0.005 0.119 B 0.004 0.093 B 0.022 0.268 N 0.999 0.215 P 1.35 0.336 L 3.48 0.052 T -1.16 0.301 N 0.062 0.047 -0.902 0.478 T 0.000 0.000 T . . . -1.567 0.015 0.002 0.556 0.053 0.060 0.119 N c -1.413 -1.537 1.000 0.747 0.707 0.730 0 -11.5 0.001 -1.147 0.033 -0.224 0.096 0.014 0.188 0.412 0.256 8.248 0.307 Peptidase M12B\x2c propeptide ENSG00000145536.11|ENSG00000145536.11 Cells_Transformed_fibroblasts|Testis 0.5459 0.3821 0.3178 0.6756 0.4290 0.5549 0.6117 0.5628 0.6521 0.5241 0.3826 0.3816 0.6533 0.4140 0.5435 0.6154 0.5786 het 4132.38 225 5 5146395 . A G 4132.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.745;DP=225;Dels=0.00;FS=0.518;HRun=0;HaplotypeScore=5.9929;MQ=59.30;MQ0=0;MQRankSum=-0.450;QD=18.37;ReadPosRankSum=-1.300;VQSLOD=3.9693;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,128:225:99:3499,0,2758 5 5239921 5239921 C T exonic ADAMTS16 synonymous SNV ADAMTS16:NM_139056:exon16:c.C2406T:p.T802T 0.11 0.0061 0.11 0.076 0.19 0.22 0.1675 0.0327 0.0815 0.0885 0.1405 0.2029 0.1733 0.2165 0.14 0.034 0.2 0.087 0.23 rs11742341 COSM4417723;COSM4417724 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1649 0.0314 0.0870 0.2270 0.0891 0.1391 0.2026 0.1732 0.2188 0.1306 0.0379 0.1014 0.25 0.0841 0.1464 0.1839 0.1497 het 1835.44 139 5 5239921 . C T 1835.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.334;DP=139;Dels=0.00;FS=5.120;HRun=0;HaplotypeScore=1.9452;MQ=59.43;MQ0=0;MQRankSum=0.457;QD=13.20;ReadPosRankSum=0.061;VQSLOD=6.1004;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,67:139:99:1865,0,1955 5 5240002 5240002 C A exonic ADAMTS16 synonymous SNV ADAMTS16:NM_139056:exon16:c.C2487A:p.I829I 0.11 0.0053 0.11 0.073 0.19 0.22 0.1663 0.0320 0.0801 0.0884 0.1478 0.2001 0.1752 0.2163 0.14 0.031 0.19 0.087 0.22 rs11742370 COSM4418360;COSM4418359 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1630 0.0304 0.0846 0.2275 0.0891 0.1443 0.1986 0.1708 0.2183 0.1289 0.0365 0.0967 0.2550 0.0840 0.1515 0.1801 0.1507 het 2298.58 232 5 5240002 . C A 2298.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.385;DP=232;Dels=0.00;FS=1.049;HRun=0;HaplotypeScore=6.1217;MQ=59.32;MQ0=0;MQRankSum=-0.003;QD=9.91;ReadPosRankSum=0.227;VQSLOD=4.9228;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:137,95:232:99:2329,0,3342 5 5303424 5303424 G A exonic ADAMTS16 nonsynonymous SNV ADAMTS16:NM_139056:exon19:c.G2833A:p.G945R 0.0044 0.0008 0.0043 . 0.013 0.0051 0.0152 0.0043 0.0081 0.0003 0.0109 0.0207 0.0093 0.0127 0.014 0.0042 0.019 . . rs34586473 . . . . . . . . . . . . . 0.002 0.721 D 0.99 0.689 D 0.846 0.683 P 0.030 0.254 N 1 0.090 N 2.25 0.640 M 0.63 0.531 T -4.43 0.775 D 0.121 0.135 -0.997 0.307 T 0.105 0.385 T . . . 3.099 0.432 22.5 0.996 0.740 0.064 0.123 N c -0.163 -0.373 1.000 0.500 0.615 0.372 0 2.27 0.274 1.227 0.320 0.953 0.551 0.005 0.169 0.043 0.159 3.131 0.060 . . . 0.0112 0.0040 0.0060 0.0030 0.0001 0.0081 0.0185 0.0098 0.0065 0.0114 0.0032 0.0095 0 0 0.0086 0.0183 0.0112 het 153.13 16 5 5303424 . G A 153.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.790;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5326;MQ=58.55;MQ0=0;MQRankSum=-1.030;QD=9.57;ReadPosRankSum=1.030;VQSLOD=4.6922;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,6:16:99:183,0,265 5 5460569 5460569 C T exonic ICE1 synonymous SNV ICE1:NM_015325:exon13:c.C1122T:p.Y374Y 0.72 0.71 0.82 0.69 0.65 0.76 0.6973 0.7179 0.8505 0.7222 0.6001 0.6612 0.6733 0.7566 0.68 0.73 0.67 0.73 . rs2578565 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6914 0.7156 0.8384 0.6811 0.7178 0.5863 0.6518 0.6868 0.7341 0.6666 0.7104 0.8182 0.6987 0.7198 0.5890 0.6435 0.6792 hom 540.07 19 5 5460569 . C T 540.07 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.42;VQSLOD=13.6511;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:45.14:573,45,0 5 5460619 5460619 G C exonic ICE1 nonsynonymous SNV ICE1:NM_015325:exon13:c.G1172C:p.C391S 0.72 0.71 0.82 0.69 0.65 0.77 0.6964 0.7212 0.8530 0.7227 0.5998 0.6590 0.6738 0.7498 0.69 0.73 0.67 0.74 . rs2619844 COSM4159896;COSM4159897 1(thyroid) . . . . . . . . . . . 0.616 0.054 T 0.0 0.026 B 0.0 0.013 B 0.685 0.102 N 1 0.090 P -1.75 0.003 N 1.37 0.342 T 1.09 0.013 N 0.016 0.003 -0.991 0.324 T 0.000 0.000 T . . . -1.570 0.015 0.002 0.189 0.006 0.001 0.007 N c -1.460 -1.374 0.990 0.321 0.563 0.310 0 2.5 0.292 -0.693 0.052 -0.563 0.046 0.000 0.063 0.028 0.145 7.318 0.255 . . . 0.6981 0.7232 0.8431 0.6897 0.7210 0.5894 0.6571 0.6918 0.7451 0.6686 0.7160 0.8198 0.7020 0.7199 0.5892 0.6440 0.6810 hom 826.32 27 5 5460619 . G C 826.32 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.60;VQSLOD=14.0078;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:66.21:859,66,0 5 5462148 5462148 G A exonic ICE1 nonsynonymous SNV ICE1:NM_015325:exon13:c.G2701A:p.V901I 0.71 0.71 0.78 0.68 0.65 0.76 0.6852 0.7223 0.7507 0.7171 0.5989 0.6591 0.6756 0.7413 0.69 0.73 0.67 0.74 . rs2578500 COSM4159898;COSM4159899 1(thyroid) . . . . . . . . . . . 0.648 0.049 T 0.0 0.026 B 0.0 0.013 B 0.038 0.018 N 1 0.090 P 0.46 0.130 N 2.84 0.107 T -0.17 0.096 N 0.016 0.003 -0.981 0.349 T 0.000 0.000 T . . . -1.573 0.015 0.002 0.255 0.012 0.011 0.041 N c -2.043 -2.074 1.000 0.500 0.707 0.730 0 -5.57 0.023 -1.302 0.028 -1.211 0.016 0.000 0.063 0.000 0.016 7.260 0.252 . . . 0.6859 0.7241 0.7553 0.6899 0.7137 0.5903 0.6596 0.6818 0.7400 0.6655 0.7155 0.7375 0.7020 0.7102 0.5893 0.6438 0.6782 hom 5953.15 197 5 5462148 . G A 5953.15 Mask AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5661;MQ=59.88;MQ0=0;QD=30.22;VQSLOD=8.6151;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:5952,472,0 5 6633779 6633779 C G exonic SRD5A1 nonsynonymous SNV SRD5A1:NM_001324322:exon1:c.C116G:p.A39G 0.57 0.69 0.68 0.39 0.55 0.5 0.6079 0.7042 0.6838 0.5294 0.6406 0.6109 0.6028 0.5483 0.61 0.68 0.57 0.14 0.4 rs248793 COSM3761283;COSM3761282 2(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5476 0.6538 0.6223 0.5441 0.4047 0.5560 0.5424 0.5571 0.5166 0.5676 0.6487 0.6187 0.4868 0.4005 0.5629 0.5397 0.5463 het 164.26 13 5 6633779 . C G 164.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.660;DP=13;Dels=0.00;FS=7.160;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.312;QD=12.64;ReadPosRankSum=1.093;VQSLOD=4.2542;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,6:13:99:194,0,203 5 6651970 6651970 A G exonic SRD5A1 synonymous SNV SRD5A1:NM_001047:exon2:c.A309G:p.P103P,SRD5A1:NM_001324323:exon3:c.A90G:p.P30P 0.29 0.33 0.39 0.16 0.39 0.19 0.3274 0.3279 0.3176 0.1729 0.3122 0.3784 0.3190 0.2153 0.36 0.33 0.37 0.24 0.45 rs3822430 COSM149787 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3294 0.3340 0.3316 0.4604 0.1704 0.3107 0.3746 0.3515 0.2175 0.3382 0.3492 0.3544 0.4067 0.1669 0.3169 0.3543 0.3194 het 1904.45 166 5 6651970 . A G 1904.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.761;DP=166;Dels=0.00;FS=4.334;HRun=0;HaplotypeScore=0.9159;MQ=58.83;MQ0=0;MQRankSum=0.549;QD=11.47;ReadPosRankSum=0.918;VQSLOD=6.0151;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:85,81:166:99:1934,0,2126 5 6652009 6652009 G A exonic SRD5A1 synonymous SNV SRD5A1:NM_001047:exon2:c.G348A:p.A116A,SRD5A1:NM_001324323:exon3:c.G129A:p.A43A 0.29 0.33 0.39 0.16 0.39 0.2 0.3289 0.3279 0.3176 0.1729 0.3120 0.3785 0.3216 0.2261 0.36 0.33 0.37 0.23 0.48 rs8192186 COSM149788 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3318 0.3345 0.3338 0.4609 0.1711 0.3110 0.3754 0.3546 0.2298 0.3383 0.3492 0.3532 0.4067 0.1675 0.3170 0.3545 0.3198 het 2856.02 201 5 6652009 . G A 2856.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.085;DP=201;Dels=0.00;FS=2.562;HRun=0;HaplotypeScore=5.6945;MQ=59.20;MQ0=0;MQRankSum=0.174;QD=14.14;ReadPosRankSum=0.509;VQSLOD=4.9126;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,105:201:99:2886,0,2286 5 6656210 6656210 G A exonic SRD5A1 synonymous SNV SRD5A1:NM_001324322:exon2:c.G339A:p.T113T,SRD5A1:NM_001047:exon3:c.G480A:p.T160T,SRD5A1:NM_001324323:exon4:c.G261A:p.T87T 0.29 0.33 0.39 0.16 0.39 0.19 0.3277 0.3300 0.3171 0.1733 0.3123 0.3787 0.3190 0.2152 0.36 0.33 0.37 0.28 0.46 rs3736316 COSM149789 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3305 0.3363 0.3334 0.4608 0.1717 0.3109 0.3753 0.3538 0.2194 0.3387 0.3497 0.3561 0.4033 0.1683 0.3168 0.3548 0.3194 het 751.29 84 5 6656210 . G A 751.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.665;DP=84;Dels=0.00;FS=4.609;HRun=0;HaplotypeScore=3.9901;MQ=59.14;MQ0=0;MQRankSum=0.174;QD=8.94;ReadPosRankSum=-1.896;VQSLOD=4.1959;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,33:84:99:781,0,1305 5 6748659 6748659 T C exonic PAPD7 synonymous SNV PAPD7:NM_001171806:exon2:c.T252C:p.A84A,PAPD7:NM_001171805:exon8:c.T792C:p.A264A,PAPD7:NM_006999:exon8:c.T792C:p.A264A 0.56 0.4 0.58 0.58 0.68 0.64 0.6585 0.4405 0.6360 0.6062 0.6389 0.7095 0.6443 0.6416 0.62 0.44 0.7 0.7 0.7 rs274681 COSM149790 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6590 0.4318 0.6336 0.7060 0.6043 0.6390 0.7083 0.6777 0.6474 0.6150 0.4418 0.6587 0.6921 0.6137 0.6485 0.7006 0.6680 hom 8048.58 250 5 6748659 . T C 8048.58 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.1010;MQ=59.04;MQ0=0;QD=32.19;VQSLOD=2.8902;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:250:99:8014,692,0 5 6750496 6750496 G A exonic PAPD7 synonymous SNV PAPD7:NM_001171806:exon4:c.G450A:p.T150T,PAPD7:NM_001171805:exon10:c.G990A:p.T330T,PAPD7:NM_006999:exon10:c.G990A:p.T330T . . . . . . 4.129e-05 0 8.651e-05 0 0 6.008e-05 0 0 0.0001 . 0.0001 . . rs145632942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.27e-05 0 6.015e-05 0 0 0 3.603e-05 0.0004 0 3.229e-05 0.0001 0 0 0 0 0 0 het 972.55 89 5 6750496 . G A 972.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.936;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.96;MQ0=0;MQRankSum=0.252;QD=10.93;ReadPosRankSum=1.761;VQSLOD=4.6723;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,40:89:99:1003,0,1321 5 7520881 7520881 G T exonic ADCY2 nonsynonymous SNV ADCY2:NM_020546:exon3:c.G439T:p.V147L 0.092 0.054 0.099 . 0.21 0.11 0.1820 0.0803 0.0807 0.0042 0.2241 0.2460 0.1784 0.1353 0.19 0.088 0.25 0.11 0.25 rs13166360 COSM3761325 1(large_intestine) . . . . . . . . . . . 0.035 0.437 D 0.598 0.374 P 0.26 0.377 B 0.000 0.843 D 0.056 0.374 P 2.215 0.627 M -1.0 0.760 T -1.5 0.366 N 0.203 0.249 -1.130 0.018 T 0.000 0.000 T . . . 3.416 0.469 23.0 0.997 0.789 0.972 0.731 D c 0.432 0.518 1.000 0.747 0.732 0.924 0 5.45 0.796 6.139 0.713 1.048 0.713 1.000 0.715 1.000 0.888 16.452 0.838 Adenylate cyclase\x2c N-terminal . . 0.1816 0.0798 0.0967 0.2281 0.0013 0.2361 0.2462 0.1827 0.1370 0.1825 0.0856 0.1026 0.2483 0.0019 0.2332 0.2469 0.2286 het 1943.16 167 5 7520881 . G T 1943.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.930;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.8466;MQ=59.72;MQ0=0;MQRankSum=-0.776;QD=11.64;ReadPosRankSum=-0.983;VQSLOD=4.1221;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:84,83:167:99:1973,0,2389 5 7743787 7743787 C T exonic ADCY2 synonymous SNV ADCY2:NM_020546:exon15:c.C1878T:p.S626S 0.32 0.3 0.32 0.059 0.58 0.38 0.4690 0.3348 0.2407 0.0607 0.5733 0.5832 0.5110 0.4215 0.5 0.34 0.58 0.43 0.49 rs62342477 COSM4159997;COSM4159996 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4632 0.3297 0.2544 0.6196 0.0566 0.5718 0.5814 0.5007 0.4195 0.4809 0.3597 0.2919 0.6358 0.0582 0.5796 0.5771 0.5438 hom 7924.23 246 5 7743787 . C T 7924.23 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7875;MQ=58.62;MQ0=0;QD=32.21;VQSLOD=9.1710;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7924,608,0 5 7835555 7835555 C G exonic C5orf49 nonsynonymous SNV C5orf49:NM_001089584:exon2:c.G204C:p.Q68H 0.18 0.18 0.17 0.097 0.22 0.22 0.2134 0.2007 0.1064 0.0908 0.1428 0.2515 0.1964 0.2352 0.23 0.2 0.24 0.23 0.19 rs6883562 . . . . . . . . . . . . . 0.037 0.465 D 0.965 0.541 D 0.471 0.450 P . . . 0.838 0.286 P 2.595 0.761 M 1.47 0.320 T -2.4 0.527 N 0.179 0.218 -1.035 0.188 T 0.000 0.000 T . . . 5.301 0.717 25.8 0.996 0.743 0.693 0.339 D c 0.087 0.048 0.757 0.234 0.554 0.246 0 1.68 0.231 0.855 0.273 0.071 0.179 0.982 0.353 0.977 0.480 5.371 0.153 . . . 0.2060 0.1984 0.1102 0.2767 0.0902 0.1574 0.2503 0.2223 0.2264 0.2098 0.2077 0.1388 0.2815 0.0989 0.1675 0.2367 0.1914 het 2201.79 171 5 7835555 . C G 2201.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.162;DP=171;Dels=0.00;FS=0.607;HRun=0;HaplotypeScore=5.3860;MQ=58.63;MQ0=0;MQRankSum=-2.915;QD=12.88;ReadPosRankSum=0.357;VQSLOD=3.0266;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,86:171:99:2232,0,2350 5 7866967 7866967 G C exonic FASTKD3 synonymous SNV FASTKD3:NM_024091:exon2:c.C1230G:p.A410A 0.82 0.93 0.85 0.67 0.82 0.8 0.8198 0.9014 0.8282 0.7023 0.8348 0.8254 0.8062 0.7962 0.85 0.89 0.82 0.8 0.79 rs162030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8197 0.9032 0.8351 0.7895 0.6992 0.8215 0.8304 0.8178 0.7986 0.8448 0.8987 0.8329 0.8113 0.7176 0.8128 0.8369 0.8279 hom 1579.56 52 5 7866967 . G C 1579.56 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=30.38;VQSLOD=9.4031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1613,132,0 5 7868030 7868030 T C exonic FASTKD3 nonsynonymous SNV FASTKD3:NM_024091:exon2:c.A167G:p.K56R 0.82 0.93 0.85 0.67 0.82 0.8 0.8201 0.9034 0.8288 0.7035 0.8348 0.8254 0.8062 0.7961 0.85 0.89 0.82 0.8 0.78 rs2966952 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.377 0.044 N 1 0.090 P -1.83 0.003 N 2.2 0.186 T 0.49 0.030 N 0.113 0.123 -0.976 0.358 T 0.000 0.000 T . . . -2.078 0.007 0.001 0.238 0.010 0.009 0.036 N c -1.738 -1.607 1.000 0.458 0.609 0.349 0 0.974 0.188 -0.480 0.066 -0.364 0.068 0.000 0.063 0.001 0.043 5.499 0.160 . ENSG00000124275.10|ENSG00000124275.10|ENSG00000124275.10 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal 0.8199 0.9054 0.8354 0.7895 0.6994 0.8214 0.8305 0.8182 0.7986 0.8453 0.9009 0.8329 0.8113 0.7184 0.8130 0.8366 0.8296 hom 4177.62 128 5 7868030 . T C 4177.62 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7300;MQ=59.71;MQ0=0;QD=32.64;VQSLOD=8.8038;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4177,328,0 5 7870973 7870973 A G exonic MTRR nonsynonymous SNV MTRR:NM_002454:exon2:c.A66G:p.I22M,MTRR:NM_024010:exon2:c.A147G:p.I49M 0.36 0.25 0.28 0.26 0.52 0.52 0.4730 0.2773 0.2250 0.2811 0.5779 0.5485 0.5044 0.5220 0.45 0.27 0.55 0.32 0.49 rs1801394 COSM5001933 2(pancreas) other|other|Benign|Uncertain significance|drug response|Benign Neural_tube_defects\x2c_folate-sensitive\x2c_susceptibility_to|Down_syndrome\x2c_susceptibility_to|not_specified|Gastrointestinal_stromal_tumor|methotrexate_response_-_Toxicity/ADR|Disorders_of_Intracellular_Cobalamin_Metabolism RCV000007444.2|RCV000007445.2|RCV000126873.4|RCV000144926.1|RCV000211244.1|RCV000264714.1 MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen|MedGen CN169374|D046152:C0238198:606764:ORPHA44890|CN236607|CN043592 . . . . . . 0.002 0.721 D 1.0 0.899 D 0.99 0.774 D 0.000 0.629 D 0.997 0.232 P 2.29 0.655 M -1.04 0.766 T -2.22 0.593 N 0.45 0.658 -0.905 0.474 T 0.000 0.000 T . . . 3.759 0.509 23.3 0.993 0.593 0.105 0.158 N c -0.070 -0.272 1.000 0.458 0.737 0.974 0 0.334 0.151 0.098 0.149 1.199 0.960 0.012 0.185 0.996 0.625 8.87 0.343 Flavodoxin/nitric oxide synthase|Flavoprotein-like domain ENSG00000124275.10|ENSG00000124275.10|ENSG00000124275.10|ENSG00000124275.10|ENSG00000124275.10 Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Cells_EBV-transformed_lymphocytes|Esophagus_Muscularis 0.4678 0.2733 0.2492 0.4564 0.2808 0.5664 0.5546 0.4714 0.5244 0.4607 0.2831 0.2823 0.4702 0.2784 0.5655 0.5647 0.5256 hom 4241.43 128 5 7870973 . A G 4241.43 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=59.64;MQ0=0;QD=33.14;VQSLOD=9.4305;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4241,325,0 5 9154659 9154659 G C exonic SEMA5A synonymous SNV SEMA5A:NM_003966:exon12:c.C1422G:p.G474G 0.27 0.037 0.32 0.23 0.57 0.3 0.4224 0.1033 0.2456 0.2512 0.4649 0.5435 0.4347 0.3293 0.4 0.11 0.55 0.26 0.58 rs1806151 COSM4003627 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4251 0.1002 0.2670 0.5822 0.2476 0.4675 0.5472 0.4558 0.3304 0.3906 0.1156 0.2818 0.6093 0.2640 0.4785 0.5435 0.4244 het 2520.45 196 5 9154659 . G C 2520.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.263;DP=196;Dels=0.00;FS=10.361;HRun=3;HaplotypeScore=5.7504;MQ=59.36;MQ0=0;MQRankSum=-0.362;QD=12.86;ReadPosRankSum=-0.365;VQSLOD=4.1045;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,91:196:99:2550,0,2818 5 9629529 9629529 G A exonic TAS2R1 nonsynonymous SNV TAS2R1:NM_019599:exon1:c.C616T:p.R206W 0.11 0.028 0.13 0.11 0.15 0.19 0.1505 0.0495 0.1152 0.1167 0.1703 0.1673 0.1604 0.1777 0.13 0.049 0.17 0.12 0.15 rs2234233 COSM149792 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.101 0.303 T 0.002 0.090 B 0.001 0.040 B 0.655 0.059 N 1 0.090 P 0.365 0.121 N 5.47 0.010 T -1.19 0.303 N 0.105 0.111 -0.902 0.478 T 0.000 0.000 T . . . 0.456 0.138 7.085 0.741 0.102 0.020 0.060 N c -1.796 -1.892 1.000 0.747 0.487 0.133 0 -11.3 0.001 -0.132 0.104 -0.877 0.028 0.000 0.063 0.003 0.074 2.355 0.040 . . . 0.1506 0.0505 0.1166 0.1755 0.1210 0.1615 0.1673 0.1529 0.1775 0.1370 0.0516 0.1038 0.2219 0.1247 0.1652 0.1795 0.1697 het 715.94 57 5 9629529 . G A 715.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.204;DP=57;Dels=0.00;FS=3.740;HRun=0;HaplotypeScore=1.9978;MQ=58.71;MQ0=0;MQRankSum=0.184;QD=12.56;ReadPosRankSum=0.312;VQSLOD=6.1414;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,27:57:99:746,0,792 5 10239278 10239278 C T exonic FAM173B synonymous SNV FAM173B:NM_001258388:exon2:c.G207A:p.P69P,FAM173B:NM_001258389:exon2:c.G207A:p.P69P,FAM173B:NM_199133:exon2:c.G207A:p.P69P 0.62 0.29 0.72 0.84 0.64 0.73 0.6524 0.3468 0.8008 0.8498 0.6374 0.6326 0.6470 0.7127 0.55 0.37 0.63 0.52 0.61 rs2252505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6598 0.3390 0.7888 0.6544 0.8467 0.6437 0.6254 0.6396 0.7153 0.5584 0.3452 0.7452 0.6954 0.8260 0.6372 0.6174 0.6319 hom 6028.13 180 5 10239278 . C T 6028.13 Mask AC=2;AF=1.00;AN=2;DP=180;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0053;MQ=59.02;MQ0=0;QD=33.49;VQSLOD=8.2807;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,179:180:99:6027,484,0 5 10254817 10254817 A G exonic CCT5 synonymous SNV CCT5:NM_001306153:exon3:c.A135G:p.G45G,CCT5:NM_001306156:exon3:c.A84G:p.G28G,CCT5:NM_012073:exon3:c.A198G:p.G66G 0.69 0.39 0.78 0.88 0.85 0.65 0.7895 0.4455 0.7962 0.8697 0.8556 0.8563 0.8007 0.6621 0.72 0.45 0.85 0.58 0.72 rs2578617 . . Benign Sensory_Neuropathy_with_Spastic_Paraplegia RCV000292326.1 MedGen CN239462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7993 0.4469 0.8025 0.8660 0.8634 0.8572 0.8552 0.8261 0.6645 0.7418 0.4596 0.7962 0.8576 0.8331 0.8603 0.8578 0.8166 hom 6398.38 202 5 10254817 . A G 6398.38 Mask AC=2;AF=1.00;AN=2;DP=202;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.3882;MQ=59.24;MQ0=0;QD=31.68;VQSLOD=7.6064;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:202:99:6398,488,0 5 10256161 10256161 T C exonic CCT5 synonymous SNV CCT5:NM_001306154:exon3:c.T261C:p.R87R,CCT5:NM_001306155:exon3:c.T147C:p.R49R,CCT5:NM_001306153:exon4:c.T363C:p.R121R,CCT5:NM_001306156:exon4:c.T312C:p.R104R,CCT5:NM_012073:exon4:c.T426C:p.R142R 0.69 0.4 0.78 0.88 0.86 0.66 0.7948 0.4623 0.7991 0.8777 0.8559 0.8612 0.8064 0.6635 0.73 0.46 0.86 0.56 0.75 rs1042392 COSM5513979 1(biliary_tract) Benign Sensory_Neuropathy_with_Spastic_Paraplegia RCV000349478.1 MedGen CN239462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8044 0.4611 0.8051 0.8669 0.8724 0.8575 0.8615 0.8283 0.6659 0.7493 0.4732 0.7983 0.8576 0.8465 0.8612 0.8637 0.8177 hom 2138.57 73 5 10256161 . T C 2138.57 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;QD=29.30;VQSLOD=8.6712;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:73:99:2172,178,0 5 10282396 10282396 A G exonic CMBL synonymous SNV CMBL:NM_138809:exon5:c.T471C:p.I157I 0.43 0.48 0.44 0.075 0.72 0.42 0.5655 0.5023 0.3238 0.0940 0.6900 0.7023 0.5852 0.4179 0.63 0.5 0.7 0.46 0.63 rs10067744 COSM149793 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5593 0.4955 0.3454 0.7153 0.0923 0.6869 0.7036 0.5969 0.4137 0.6008 0.5046 0.3902 0.7053 0.1049 0.6912 0.6984 0.6092 het 440.94 58 5 10282396 . A G 440.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.724;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;MQRankSum=-0.368;QD=7.60;ReadPosRankSum=-0.221;VQSLOD=5.9618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,20:58:99:471,0,1044 5 13701525 13701525 T C exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon77:c.A13359G:p.T4453T 0.45 0.34 0.49 0.44 0.54 0.46 0.5013 0.3736 0.4868 0.4192 0.5339 0.5446 0.5132 0.4446 0.49 0.37 0.55 0.36 0.47 rs3734111 COSM3760927 1(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000155500.2|RCV000284933.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5041 0.3706 0.4940 0.5278 0.4194 0.5289 0.5475 0.5117 0.4448 0.4755 0.3687 0.4868 0.5265 0.4486 0.5376 0.5243 0.4784 hom 3590.42 135 5 13701525 . T C 3590.42 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.653;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7712;MQ=58.76;MQ0=0;MQRankSum=0.236;QD=26.60;ReadPosRankSum=-0.236;VQSLOD=7.4015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,134:135:99:3566,259,0 5 13701536 13701536 T C exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon77:c.A13348G:p.I4450V 0.5 0.53 0.52 0.45 0.55 0.47 0.5190 0.5247 0.5006 0.4215 0.5340 0.5478 0.5308 0.4563 0.53 0.5 0.55 0.49 0.51 rs3734110 COSM3760928 2(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150463.2|RCV000342133.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.254 0.169 T 0.0 0.026 B 0.001 0.040 B 0.019 0.273 N 1.000 0.189 P -0.175 0.042 N 3.11 0.082 T 0.67 0.023 N 0.02 0.004 -0.982 0.345 T 0.000 0.000 T . . . 1.664 0.261 14.20 0.954 0.263 0.087 0.144 N c -0.552 -0.325 0.999 0.381 0.487 0.133 0 4.91 0.638 0.805 0.266 -0.377 0.066 0.655 0.280 0.932 0.405 7.674 0.275 Dynein heavy chain domain . . 0.5189 0.5187 0.5080 0.5394 0.4211 0.5290 0.5504 0.5283 0.4558 0.5174 0.5089 0.5012 0.5397 0.4484 0.5382 0.5272 0.4907 hom 3426.56 119 5 13701536 . T C 3426.56 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6126;MQ=58.02;MQ0=0;QD=28.79;VQSLOD=7.6140;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3426,253,0 5 13719022 13719022 T G exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon72:c.A12468C:p.G4156G 0.42 0.39 0.41 0.44 0.4 0.47 0.4156 0.3967 0.4483 0.4087 0.3239 0.4133 0.4317 0.4529 0.41 0.39 0.42 0.34 0.39 rs30169 . . Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000155502.2|RCV000358362.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4143 0.3955 0.4428 0.4165 0.4100 0.3265 0.4153 0.4174 0.4535 0.3867 0.3943 0.4378 0.4371 0.4338 0.3313 0.3871 0.3719 het 1357.01 108 5 13719022 . T G 1357.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.907;DP=108;Dels=0.00;FS=0.834;HRun=1;HaplotypeScore=2.7280;MQ=59.02;MQ0=0;MQRankSum=0.165;QD=12.56;ReadPosRankSum=2.147;VQSLOD=5.6371;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,53:108:99:1387,0,1353 5 13719089 13719089 G A exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon72:c.C12401T:p.A4134V 0.47 0.55 0.43 0.44 0.4 0.47 0.4290 0.5392 0.4542 0.4090 0.3238 0.4142 0.4372 0.4539 0.46 0.54 0.42 0.4 0.4 rs30168 COSM5895759 1(skin) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000155503.2|RCV000265989.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.001 0.416 N 1.000 0.202 P -1.26 0.008 N 3.16 0.077 T 2.65 0.002 N 0.03 0.011 -0.969 0.374 T 0.000 0.000 T . . . 0.414 0.134 6.739 0.176 0.005 0.033 0.082 N c -1.424 -1.214 0.005 0.109 0.554 0.246 0 1.72 0.234 1.044 0.297 0.168 0.246 0.167 0.237 0.992 0.562 3.023 0.057 Dynein heavy chain domain . . 0.4249 0.5371 0.4507 0.4226 0.4104 0.3262 0.4158 0.4253 0.4544 0.4264 0.5331 0.4533 0.4470 0.4352 0.3314 0.3866 0.3814 het 1564.15 125 5 13719089 . G A 1564.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.474;DP=125;Dels=0.00;FS=1.403;HRun=1;HaplotypeScore=1.7336;MQ=58.99;MQ0=0;MQRankSum=0.669;QD=12.51;ReadPosRankSum=-0.649;VQSLOD=6.7304;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,63:125:99:1594,0,1722 5 13737444 13737444 G A exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon66:c.C11372T:p.T3791I 0.066 0.02 0.085 0.048 0.15 0.043 0.1012 0.0307 0.0529 0.0384 0.2107 0.1340 0.1079 0.0355 0.094 0.031 0.13 0.065 0.18 rs17263496 . . Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000155504.2|RCV000300910.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.001 0.784 D 0.994 0.647 D 0.987 0.759 D 0.000 0.843 D 0.000 0.588 P 3.44 0.923 M 0.56 0.546 T -5.33 0.846 D 0.346 0.407 -0.928 0.444 T 0.006 0.021 T . . . 6.362 0.878 29.4 0.999 0.978 0.992 0.933 D c 0.942 0.889 1.000 0.747 0.487 0.133 0 5.44 0.793 8.042 0.891 1.048 0.713 1.000 0.715 0.995 0.604 19.267 0.940 . . . 0.1049 0.0294 0.0614 0.1474 0.0403 0.2041 0.1330 0.1112 0.0379 0.1115 0.0337 0.0585 0.1167 0.0433 0.2099 0.1432 0.1255 het 2503.48 184 5 13737444 . G A 2503.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.725;DP=184;Dels=0.00;FS=2.609;HRun=0;HaplotypeScore=3.7801;MQ=59.06;MQ0=0;MQRankSum=2.310;QD=13.61;ReadPosRankSum=-1.294;VQSLOD=5.1389;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,98:184:99:2533,0,2344 5 13788886 13788886 C A exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon51:c.G8586T:p.L2862F 0.21 0.13 0.26 0.22 0.27 0.21 0.2524 0.1594 0.2502 0.2134 0.2176 0.2820 0.2522 0.2270 0.25 0.16 0.29 0.22 0.18 rs10513155 COSM3760931 1(thyroid);1(large_intestine) Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000155505.2|RCV000330798.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.695 0.042 T 0.0 0.026 B 0.003 0.080 B 0.442 0.126 N 0.960 0.261 P 1.545 0.392 L 1.78 0.257 T -1.76 0.416 N 0.024 0.007 -0.946 0.416 T 0.000 0.000 T . . . 2.949 0.415 22.1 0.939 0.233 0.236 0.219 N c -0.583 -0.460 0.018 0.131 0.554 0.246 0 4.02 0.458 -0.376 0.075 0.077 0.185 0.001 0.137 0.578 0.284 5.576 0.164 . . . 0.2542 0.1583 0.2521 0.3342 0.2182 0.2197 0.2801 0.2771 0.2259 0.2244 0.1664 0.2518 0.3841 0.2522 0.2074 0.2541 0.2285 het 884.19 95 5 13788886 . C A 884.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.377;DP=95;Dels=0.00;FS=4.104;HRun=2;HaplotypeScore=4.7973;MQ=56.91;MQ0=0;MQRankSum=1.277;QD=9.31;ReadPosRankSum=-0.234;VQSLOD=3.7476;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,36:95:99:914,0,1552 5 13811775 13811775 T C exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon44:c.A7388G:p.Q2463R 0.26 0.19 0.18 0.56 0.21 0.17 0.2149 0.1985 0.1582 0.5430 0.1904 0.2024 0.2048 0.1542 0.2 0.2 0.2 0.24 0.26 rs10078391 . . Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150473.2|RCV000390072.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.017 0.512 D 0.389 0.328 B 0.194 0.349 B 0.000 0.843 D 0.000 0.588 P 3.015 0.864 M 1.79 0.255 T -2.24 0.501 N 0.28 0.339 -0.922 0.453 T 0.000 0.000 T . . . 3.051 0.427 22.4 0.995 0.657 0.992 0.929 D c 0.292 0.329 1.000 0.747 0.554 0.283 0 5.78 0.914 7.949 0.872 0.993 0.603 1.000 0.715 0.979 0.486 16.119 0.811 . . . 0.2134 0.2030 0.1582 0.1444 0.5514 0.1943 0.2064 0.1896 0.1549 0.2192 0.1935 0.1758 0.1391 0.5689 0.2020 0.2079 0.1694 het 1539.08 125 5 13811775 . T C 1539.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.846;DP=125;Dels=0.00;FS=0.718;HRun=0;HaplotypeScore=1.9951;MQ=59.65;MQ0=0;MQRankSum=1.202;QD=12.31;ReadPosRankSum=-0.186;VQSLOD=6.6511;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,57:125:99:1569,0,1821 5 13829799 13829799 G A exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon38:c.C6264T:p.A2088A 0.44 0.47 0.42 0.63 0.37 0.31 0.3863 0.4627 0.3759 0.6157 0.3180 0.3668 0.3673 0.3321 0.4 0.46 0.36 0.5 0.38 rs1348689 COSM3760935 1(thyroid);1(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150476.2|RCV000308110.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3831 0.4642 0.3727 0.3602 0.6218 0.3249 0.3668 0.3740 0.3308 0.4030 0.4680 0.3878 0.3874 0.6455 0.3295 0.3622 0.3313 hom 3047.52 96 5 13829799 . G A 3047.52 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9985;MQ=59.52;MQ0=0;QD=31.75;VQSLOD=8.9623;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3081,235,0 5 13845045 13845045 G A exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon32:c.C5172T:p.A1724A 0.45 0.52 0.41 0.62 0.36 0.33 0.3824 0.5018 0.3657 0.6206 0.3128 0.3530 0.3502 0.3422 0.4 0.5 0.35 0.5 0.36 rs10041113 COSM3760936 1(breast);1(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000155509.2|RCV000354737.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3773 0.5025 0.3620 0.3394 0.6282 0.3204 0.3520 0.3607 0.3396 0.4102 0.5052 0.3789 0.3642 0.6484 0.3283 0.3563 0.3296 hom 4189.31 123 5 13845045 . G A 4189.31 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=34.06;VQSLOD=9.6927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4189,325,0 5 13900345 13900345 A G exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon15:c.T2229C:p.D743D 0.6 0.68 0.52 0.87 0.45 0.43 0.5015 0.6642 0.4717 0.8929 0.4104 0.4562 0.4824 0.4363 0.52 0.66 0.45 0.66 0.41 rs1445823 COSM3760941 1(large_intestine) Likely benign\x2cBenign|Benign not_specified\x2cnot_specified|Primary_ciliary_dyskinesia RCV000252572.1\x2cRCV000155515.2|RCV000327249.1 MedGen\x2cMedGen|MedGen:Orphanet CN169374\x2cCN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4976 0.6660 0.4709 0.4869 0.8905 0.4280 0.4534 0.4819 0.4398 0.5320 0.6719 0.4736 0.4768 0.8832 0.4323 0.4449 0.4622 hom 3485.06 115 5 13900345 . A G 3485.06 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;QD=30.30;VQSLOD=9.1460;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3485,259,0 5 13902220 13902220 T C exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon13:c.A1672G:p.T558A 0.39 0.15 0.43 0.76 0.4 0.29 0.4186 0.1968 0.3978 0.7634 0.3724 0.4374 0.4259 0.3168 0.33 0.19 0.41 0.43 0.19 rs1530498 . . Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150488.2|RCV000394892.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.786 0.032 T 0.002 0.090 B 0.016 0.166 B 0.000 0.537 N 0.000 0.479 P 2.465 0.718 M 0.67 0.522 T -1.68 0.401 N 0.173 0.210 -0.934 0.436 T 0.000 0.000 T . . . 2.086 0.312 16.76 0.804 0.127 0.929 0.567 D c -0.447 -0.326 0.989 0.317 0.487 0.133 0 2.56 0.297 1.213 0.318 1.061 0.807 0.905 0.313 0.999 0.750 8.861 0.342 Dynein heavy chain\x2c domain-1 . . 0.3970 0.1811 0.3830 0.4301 0.7604 0.3684 0.4021 0.4006 0.3031 0.3557 0.1953 0.3962 0.4470 0.7639 0.3688 0.3960 0.3845 hom 1269.06 45 5 13902220 . T C 1269.06 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=28.20;VQSLOD=8.6592;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:96.31:1302,96,0 5 13913885 13913885 A G exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon11:c.T1503C:p.I501I 0.53 0.57 0.45 0.85 0.38 0.36 0.4220 0.5354 0.3931 0.8619 0.3218 0.3794 0.4084 0.3539 0.43 0.53 0.38 0.59 0.34 rs3213936 COSM5429024 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150489.2|RCV000394893.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4186 0.5366 0.3923 0.4220 0.8606 0.3304 0.3766 0.4034 0.3585 0.4404 0.5411 0.4117 0.4338 0.8571 0.3315 0.3672 0.3914 het 889.18 70 5 13913885 . A G 889.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.577;DP=70;Dels=0.00;FS=4.779;HRun=0;HaplotypeScore=4.9857;MQ=58.41;MQ0=0;MQRankSum=1.059;QD=12.70;ReadPosRankSum=-0.600;VQSLOD=5.0077;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,37:70:99:919,0,800 5 13944512 13944512 A C exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon1:c.T36G:p.H12Q 0.91 0.87 0.96 0.89 0.93 0.94 0.9358 0.8875 0.9610 0.8855 0.9769 0.9454 0.9394 0.9197 0.93 0.89 0.94 0.89 0.92 rs339445 . . Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000155520.2|RCV000303227.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.008 0.312 N 1.000 0.090 P -2.095 0.002 N 2.0 0.215 T 1.25 0.010 N 0.064 0.049 -0.982 0.346 T 0.000 0.000 T . . . 0.644 0.155 8.459 0.629 0.069 0.033 0.083 N c -0.873 -0.559 1.000 0.517 0.487 0.133 0 3.81 0.429 0.762 0.260 0.067 0.174 1.000 0.715 0.997 0.653 3.054 0.058 . . . 0.9365 0.8845 0.9561 0.9522 0.8812 0.9776 0.9423 0.9324 0.9176 0.9302 0.8850 0.9535 0.9603 0.8682 0.9785 0.9487 0.9511 hom 3825.65 127 5 13944512 . A C 3825.65 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.93;MQ0=0;QD=30.12;VQSLOD=9.1235;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3825,289,0 5 14397238 14397238 T C exonic TRIO synonymous SNV TRIO:NM_007118:exon29:c.T4398C:p.D1466D 0.39 0.7 0.38 0.098 0.33 0.36 0.3826 0.6631 0.4718 0.0966 0.3331 0.3615 0.3551 0.3805 0.44 0.65 0.34 0.5 0.32 rs30774 COSM449031 1(kidney);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3427 0.6517 0.4108 0.4346 0.0748 0.2738 0.3255 0.3544 0.3529 0.3992 0.6575 0.4129 0.4172 0.0858 0.2722 0.3139 0.3595 het 155.22 17 5 14397238 . T C 155.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.165;DP=17;Dels=0.00;FS=1.957;HRun=0;HaplotypeScore=0.9332;MQ=57.39;MQ0=0;MQRankSum=0.818;QD=9.13;ReadPosRankSum=-0.818;VQSLOD=4.5995;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,8:17:99:185,0,239 5 14420027 14420027 A C exonic TRIO synonymous SNV TRIO:NM_007118:exon34:c.A5100C:p.T1700T 0.82 0.99 0.83 0.7 0.88 0.65 0.8298 0.9669 0.8129 0.7022 0.8507 0.8637 0.8348 0.6760 0.9 0.96 0.86 0.92 0.78 rs30612 COSM4159595 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8272 0.9703 0.8148 0.8892 0.7004 0.8447 0.8614 0.8479 0.6806 0.8768 0.9709 0.8305 0.8974 0.7165 0.8351 0.8536 0.8405 hom 2639.85 78 5 14420027 . A C 2639.85 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4691;MQ=59.11;MQ0=0;QD=33.84;VQSLOD=8.9652;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2673,211,0 5 14741984 14741984 T C exonic ANKH synonymous SNV ANKH:NM_054027:exon8:c.A963G:p.A321A 0.084 0.079 0.14 0.12 0.043 0.051 0.0672 0.0817 0.1957 0.1190 0.0349 0.0433 0.0442 0.0515 0.058 0.085 0.045 0.087 0.09 rs2288474 COSM149799 1(stomach) Benign|Benign Craniometaphyseal_dysplasia|Chondrocalcinosis RCV000268651.1|RCV000363328.1 MedGen:OMIM:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen C0265292:269300:ORPHA85184:36601008|HP:0000934:C0553730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0701 0.0810 0.1832 0.0266 0.1177 0.0327 0.0443 0.0572 0.0517 0.0596 0.0810 0.1447 0.0199 0.0931 0.0326 0.0465 0.0499 het 367.96 58 5 14741984 . T C 367.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.437;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6584;MQ=60.00;MQ0=0;MQRankSum=-0.077;QD=6.34;ReadPosRankSum=1.428;VQSLOD=4.7957;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,20:58:99:398,0,934 5 14769103 14769103 G A exonic ANKH synonymous SNV ANKH:NM_054027:exon2:c.C294T:p.A98A 0.12 0.042 0.12 0.024 0.18 0.26 0.1646 0.0589 0.0920 0.0293 0.1383 0.1930 0.1883 0.2471 0.15 0.06 0.19 0.21 0.13 rs17251667 COSM4419469 1(haematopoietic_and_lymphoid_tissue) Benign|Benign Craniometaphyseal_dysplasia|Chondrocalcinosis RCV000263336.1|RCV000355854.1 MedGen:OMIM:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen C0265292:269300:ORPHA85184:36601008|HP:0000934:C0553730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1615 0.0539 0.0926 0.1877 0.0283 0.1414 0.1939 0.1820 0.2501 0.1351 0.0566 0.1265 0.1656 0.0370 0.1329 0.1900 0.1619 het 1569.87 118 5 14769103 . G A 1569.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.024;DP=118;Dels=0.00;FS=10.895;HRun=0;HaplotypeScore=5.6555;MQ=59.41;MQ0=0;MQRankSum=-0.111;QD=13.30;ReadPosRankSum=0.713;VQSLOD=4.3993;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,61:118:99:1600,0,1435 5 15937010 15937010 C T exonic FBXL7 synonymous SNV FBXL7:NM_001278317:exon4:c.C1050T:p.L350L,FBXL7:NM_012304:exon4:c.C1191T:p.L397L 0.01 0.0015 0.013 . 0.032 0.0082 0.0248 0.0067 0.0157 0.0006 0.0198 0.0356 0.0247 0.0128 0.023 0.0062 0.032 0.011 . rs61748187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0240 0.0065 0.0162 0.0185 0.0003 0.0208 0.0366 0.0252 0.0127 0.0230 0.0076 0.0179 0.0166 0 0.0260 0.0347 0.0163 het 637.04 87 5 15937010 . C T 637.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.697;DP=87;Dels=0.00;FS=2.020;HRun=1;HaplotypeScore=3.5766;MQ=57.74;MQ0=0;MQRankSum=2.075;QD=7.32;ReadPosRankSum=-1.607;VQSLOD=2.8707;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,29:87:99:667,0,1559 5 16478200 16478200 G A exonic RETREG1 synonymous SNV RETREG1:NM_019000:exon5:c.C393T:p.D131D,RETREG1:NM_001034850:exon7:c.C816T:p.D272D 0.68 0.82 0.6 0.55 0.74 0.61 0.6661 0.8074 0.5488 0.5290 0.6213 0.7018 0.6435 0.6094 0.73 0.8 0.7 0.73 0.39 rs162848 . . Benign Hereditary_sensory_and_autonomic_neuropathy_type_II RCV000360491.1 MedGen C0020072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6530 0.8074 0.5541 0.7153 0.5225 0.6180 0.6958 0.6766 0.6046 0.7038 0.8002 0.5983 0.7067 0.5513 0.6227 0.6910 0.6667 het 496.42 32 5 16478200 . G A 496.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.151;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.09;MQ0=0;MQRankSum=0.833;QD=15.51;ReadPosRankSum=0.996;VQSLOD=6.6336;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,22:32:99:526,0,275 5 16673975 16673975 C G exonic MYO10 nonsynonymous SNV MYO10:NM_012334:exon36:c.G4988C:p.S1663T 0.82 0.98 0.81 0.77 0.67 0.84 0.7407 0.9430 0.8471 0.7753 0.7511 0.6651 0.7283 0.8298 0.75 0.93 0.67 0.87 . rs25901 COSM4159700;COSM4159701 1(pancreas);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.006 0.112 B . . . 0.994 0.235 P -0.325 0.035 N -2.88 0.915 D 1.23 0.012 N 0.03 0.017 -0.921 0.454 T 0.000 0.000 T . . . 2.021 0.304 16.35 0.377 0.025 0.124 0.171 N c -0.476 -0.198 1.000 0.747 0.707 0.730 0 5.41 0.782 8.161 0.895 0.073 0.181 1.000 0.715 0.997 0.653 16.411 0.835 MyTH4 domain . . 0.7408 0.9449 0.8356 0.6386 0.7781 0.7378 0.6643 0.7263 0.8301 0.7681 0.9382 0.8150 0.6225 0.7708 0.7398 0.6780 0.7321 hom 3977.59 134 5 16673975 . C G 3977.59 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=29.68;VQSLOD=8.8345;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:3977,307,0 5 16681986 16681986 C T exonic MYO10 nonsynonymous SNV MYO10:NM_012334:exon31:c.G4183A:p.V1395M 0.0002 . 0.0014 . . . 0.0004 0.0002 0.0003 0 0.0003 0.0006 0 0 0.0006 0.0002 0.0008 . . rs180896948 . . . . . . . . . . . . . 0.098 0.496 T 0.99 0.715 D 0.724 0.610 P . . . 0.999 0.454 D 2.015 0.552 M -0.89 0.748 T -0.95 0.344 N 0.67 0.680 0.007 0.824 D 0.526 0.824 D 0.014 0.338 T 5.681 0.775 26.7 0.998 0.926 0.958 0.658 D c 0.590 0.608 1.000 0.747 0.672 0.522 0 5.74 0.900 2.298 0.430 0.935 0.490 0.989 0.365 0.998 0.697 19.902 0.970 PH domain-like|Pleckstrin homology domain . . 0.0005 0.0002 0.0004 0 0 0.0003 0.0008 0 0 0.0005 0.0003 0 0 0 0 0.0009 0 het 1291.89 125 5 16681986 . C T 1291.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.353;DP=125;Dels=0.00;FS=10.170;HRun=0;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;MQRankSum=-0.241;QD=10.34;ReadPosRankSum=-1.221;VQSLOD=2.6394;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,48:125:99:1322,0,2138 5 16769273 16769273 G A exonic MYO10 nonsynonymous SNV MYO10:NM_012334:exon10:c.C970T:p.R324W 0.48 0.34 0.4 0.54 0.6 0.55 0.5558 0.3838 0.3377 0.5736 0.5598 0.6075 0.5963 0.5815 0.53 0.39 0.6 0.43 . rs11750538 COSM3761089;COSM3761090 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.199 0.204 T 0.989 0.609 D 0.72 0.530 P . . . 0.002 0.448 P 0.775 0.195 N -2.39 0.884 D -2.0 0.716 N 0.439 0.494 -0.928 0.445 T 0.000 0.000 T . . . 5.494 0.746 26.2 0.967 0.300 0.917 0.538 D c 0.283 0.288 1.000 0.747 0.707 0.730 0 4.82 0.615 2.924 0.483 0.975 0.595 0.999 0.424 0.940 0.414 13.502 0.608 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.5431 0.3724 0.3413 0.6518 0.5616 0.5602 0.6016 0.5550 0.5731 0.5242 0.3874 0.3556 0.6933 0.5405 0.5524 0.5972 0.5867 het 746.79 42 5 16769273 . G A 746.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.186;DP=42;Dels=0.00;FS=3.067;HRun=2;HaplotypeScore=1.9402;MQ=58.55;MQ0=0;MQRankSum=0.158;QD=17.78;ReadPosRankSum=-0.358;VQSLOD=5.3439;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,29:42:99:777,0,281 5 19721490 19721490 T C exonic CDH18 synonymous SNV CDH18:NM_001167667:exon5:c.A609G:p.Q203Q,CDH18:NM_001291957:exon5:c.A609G:p.Q203Q,CDH18:NM_001349559:exon5:c.A609G:p.Q203Q,CDH18:NM_001349560:exon5:c.A609G:p.Q203Q,CDH18:NM_001349561:exon5:c.A609G:p.Q203Q,CDH18:NM_004934:exon5:c.A609G:p.Q203Q,CDH18:NM_001349556:exon6:c.A609G:p.Q203Q,CDH18:NM_001291956:exon7:c.A609G:p.Q203Q,CDH18:NM_001349558:exon8:c.A609G:p.Q203Q 0.96 0.87 0.99 1. 1. 1. 0.9887 0.8775 0.9939 1 1 0.9998 0.9967 0.9995 0.96 0.88 1. 0.98 1. rs12187552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9912 0.8747 0.9947 1 1 1 0.9997 0.9940 0.9998 0.9665 0.8826 0.9976 1 1 1 0.9996 0.9949 hom 7053.74 217 5 19721490 . T C 7053.74 Mask AC=2;AF=1.00;AN=2;DP=217;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.5623;MQ=58.58;MQ0=0;QD=32.51;VQSLOD=6.9106;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:7053,542,0 5 21752050 21752050 A G exonic CDH12 synonymous SNV CDH12:NM_001317227:exon12:c.T2181C:p.D727D,CDH12:NM_001317228:exon12:c.T2061C:p.D687D,CDH12:NM_004061:exon15:c.T2181C:p.D727D 0.55 0.38 0.63 0.44 0.75 0.64 0.6569 0.4443 0.5477 0.4593 0.7309 0.7336 0.6971 0.6289 0.64 0.46 0.74 0.53 0.7 rs6451992 COSM149801 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6586 0.4324 0.5572 0.7825 0.4656 0.7264 0.7307 0.6964 0.6325 0.6245 0.4344 0.6365 0.7933 0.4595 0.7348 0.7188 0.6872 het 1555.08 130 5 21752050 . A G 1555.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.045;DP=130;Dels=0.00;FS=0.670;HRun=2;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;MQRankSum=-1.257;QD=11.96;ReadPosRankSum=-0.443;VQSLOD=5.3606;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,58:130:99:1585,0,1783 5 21752056 21752056 A G exonic CDH12 synonymous SNV CDH12:NM_001317227:exon12:c.T2175C:p.D725D,CDH12:NM_001317228:exon12:c.T2055C:p.D685D,CDH12:NM_004061:exon15:c.T2175C:p.D725D 0.55 0.38 0.63 0.44 0.75 0.64 0.6577 0.4437 0.5508 0.4591 0.7306 0.7346 0.7004 0.6290 0.64 0.45 0.74 0.53 0.7 rs6451993 COSM149802 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6596 0.4321 0.5608 0.7879 0.4656 0.7265 0.7313 0.6996 0.6325 0.6248 0.4337 0.6434 0.7987 0.4583 0.7347 0.7195 0.6887 het 1377.41 123 5 21752056 . A G 1377.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.393;DP=123;Dels=0.00;FS=3.290;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;MQRankSum=1.310;QD=11.20;ReadPosRankSum=-0.593;VQSLOD=6.3894;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,55:123:99:1407,0,1842 5 21760731 21760731 T C exonic CDH12 synonymous SNV CDH12:NM_001317227:exon10:c.A1569G:p.Q523Q,CDH12:NM_001317228:exon10:c.A1449G:p.Q483Q,CDH12:NM_004061:exon13:c.A1569G:p.Q523Q 0.059 0.023 0.12 0.017 0.061 0.11 0.0780 0.0293 0.1581 0.0165 0.0746 0.0705 0.0762 0.1162 0.055 0.033 0.067 0.043 0.041 rs2303749 COSM3761188 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0811 0.0291 0.1549 0.0596 0.0134 0.0761 0.0710 0.0690 0.1139 0.0588 0.0297 0.1050 0.0430 0.0149 0.0713 0.0744 0.0724 het 2060.88 165 5 21760731 . T C 2060.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.457;DP=165;Dels=0.00;FS=1.931;HRun=0;HaplotypeScore=5.9153;MQ=59.30;MQ0=0;MQRankSum=-1.662;QD=12.49;ReadPosRankSum=0.322;VQSLOD=4.3159;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:89,76:165:99:2091,0,2354 5 21842436 21842436 A G exonic CDH12 synonymous SNV CDH12:NM_001317227:exon5:c.T648C:p.G216G,CDH12:NM_001317228:exon5:c.T528C:p.G176G,CDH12:NM_004061:exon8:c.T648C:p.G216G 0.061 0.043 0.11 0.018 0.049 0.11 0.0729 0.0414 0.1580 0.0182 0.0647 0.0599 0.0636 0.1200 0.049 0.043 0.052 0.054 0.041 rs17839323 COSM3761189 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0755 0.0402 0.1615 0.0448 0.0152 0.0661 0.0603 0.0638 0.1199 0.0541 0.0403 0.1038 0.0397 0.0161 0.0610 0.0615 0.0642 het 1586.03 103 5 21842436 . A G 1586.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.012;DP=103;Dels=0.00;FS=4.422;HRun=0;HaplotypeScore=3.8160;MQ=59.00;MQ0=0;MQRankSum=1.422;QD=15.40;ReadPosRankSum=0.985;VQSLOD=4.3922;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,56:103:99:1616,0,1131 5 22078584 22078584 C T exonic CDH12 nonsynonymous SNV CDH12:NM_001317227:exon2:c.G202A:p.V68M,CDH12:NM_001317228:exon3:c.G202A:p.V68M,CDH12:NM_004061:exon5:c.G202A:p.V68M 0.36 0.68 0.28 0.14 0.24 0.35 0.2988 0.6330 0.3024 0.1522 0.2886 0.2554 0.2930 0.3419 0.37 0.62 0.24 0.48 0.21 rs4371716 COSM3761190 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.454 0.089 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.204 P -0.7 0.018 N 9.26 0.000 T 0.71 0.021 N 0.072 0.124 -1.103 0.037 T 0.000 0.000 T . . . 2.996 0.420 22.2 0.982 0.385 0.217 0.213 N c -0.524 -0.235 0.172 0.178 0.487 0.133 0 5.5 0.813 5.781 0.684 0.154 0.240 1.000 0.715 0.999 0.750 11.527 0.497 Cadherin . . 0.2905 0.6397 0.3112 0.1788 0.1453 0.2914 0.2575 0.2600 0.3357 0.3598 0.6234 0.2709 0.1987 0.1283 0.2944 0.2589 0.3004 het 1602.30 112 5 22078584 . C T 1602.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.316;DP=112;Dels=0.00;FS=2.002;HRun=0;HaplotypeScore=1.8279;MQ=57.47;MQ0=0;MQRankSum=-0.359;QD=14.31;ReadPosRankSum=1.582;VQSLOD=4.3683;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,62:112:99:1632,0,1251 5 24511490 24511490 C T exonic CDH10 nonsynonymous SNV CDH10:NM_001317224:exon5:c.G948A:p.M316I,CDH10:NM_006727:exon6:c.G948A:p.M316I 0.0004 . . . . 0.002 0.0002 0 0.0002 0 0 0.0001 0.0011 0.0005 0.0001 . 0.0001 . . rs145397210 . . . . . . . . . . . . . 0.417 0.099 T 0.014 0.156 B 0.028 0.201 B 0.001 0.405 N 0.959 0.381 D 0.28 0.100 N 4.76 0.016 T -0.73 0.206 N 0.279 0.374 -0.750 0.580 T 0.005 0.015 T 0.008 0.202 T 2.196 0.325 17.49 0.959 0.275 0.774 0.378 D c -0.279 -0.075 0.935 0.272 0.554 0.246 0 5.22 0.722 2.331 0.433 0.852 0.362 1.000 0.715 0.994 0.587 11.263 0.481 Cadherin|Cadherin-like . . 0.0001 0 0.0002 0 0 0 7.166e-05 0.0004 0.0005 0.0001 0 0.0012 0 0 0 0.0002 0 het 2495.45 204 5 24511490 . C T 2495.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.548;DP=204;DS;Dels=0.00;FS=12.043;HRun=0;HaplotypeScore=5.7544;MQ=58.78;MQ0=0;MQRankSum=-0.170;QD=12.23;ReadPosRankSum=0.329;VQSLOD=2.3118;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,96:204:99:2525,0,3031 5 26988328 26988328 G A exonic CDH9 nonsynonymous SNV CDH9:NM_016279:exon2:c.C113T:p.A38V 0.38 0.69 0.27 0.15 0.47 0.19 0.4350 0.6894 0.2374 0.1594 0.5868 0.5027 0.4568 0.2205 0.56 0.69 0.5 0.42 0.46 rs2288466 COSM3761195 2(large_intestine) . . . . . . . . . . . 0.286 0.152 T 0.001 0.067 B 0.001 0.040 B 0.717 0.063 N 1 0.090 P -1.04 0.011 N 0.51 0.573 T -0.12 0.088 N 0.021 0.400 -0.922 0.454 T 0.000 0.000 T . . . 1.454 0.237 13.07 0.752 0.106 0.007 0.030 N c -1.075 -0.971 0.000 0.060 0.554 0.246 0 3.28 0.365 0.489 0.219 -0.158 0.107 0.000 0.063 0.027 0.143 8.432 0.317 . . . 0.4275 0.6913 0.2573 0.5029 0.1535 0.5794 0.5029 0.4400 0.2271 0.5442 0.6888 0.2847 0.4801 0.1510 0.5706 0.5157 0.4898 het 741.60 67 5 26988328 . G A 741.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.196;DP=67;Dels=0.00;FS=6.967;HRun=0;HaplotypeScore=3.7905;MQ=57.68;MQ0=0;MQRankSum=2.041;QD=11.07;ReadPosRankSum=1.925;VQSLOD=3.7043;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,29:67:99:772,0,963 5 26988424 26988424 T C exonic CDH9 nonsynonymous SNV CDH9:NM_016279:exon2:c.A17G:p.Y6C 0.33 0.49 0.25 0.15 0.47 0.19 0.4194 0.5206 0.2288 0.1601 0.5868 0.5022 0.4502 0.2206 0.51 0.52 0.5 0.33 0.47 rs2288467 COSM5009599 1(large_intestine) . . . . . . . . . . . 0.512 0.238 T 0.0 0.026 B 0.001 0.040 B 0.166 0.175 N 1 0.090 P -1.28 0.007 N 0.5 0.568 T 1.85 0.006 N 0.059 0.472 -0.913 0.465 T 0.000 0.000 T . . . -0.523 0.054 0.193 0.116 0.002 0.017 0.054 N c -1.093 -0.978 0.000 0.055 0.638 0.428 0 2.69 0.308 -0.001 0.128 -0.007 0.133 0.760 0.290 0.134 0.200 4.153 0.096 . . . 0.4150 0.5181 0.2481 0.5037 0.1538 0.5798 0.5023 0.4333 0.2270 0.4944 0.5147 0.2787 0.4801 0.1508 0.5711 0.5150 0.4816 het 1288.03 99 5 26988424 . T C 1288.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.611;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9977;MQ=59.06;MQ0=0;MQRankSum=0.045;QD=13.01;ReadPosRankSum=-0.150;VQSLOD=6.6722;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,50:99:99:1318,0,1183 5 31409252 31409252 A G exonic DROSHA synonymous SNV DROSHA:NM_001100412:exon32:c.T3654C:p.N1218N,DROSHA:NM_013235:exon32:c.T3765C:p.N1255N 0.31 0.25 0.28 0.48 0.21 0.32 0.2457 0.2547 0.3218 0.4699 0.2011 0.1893 0.2646 0.3163 0.21 0.24 0.19 0.35 . rs2241337 COSM4003496 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2475 0.2578 0.3156 0.2774 0.4630 0.1974 0.1827 0.2326 0.3118 0.2202 0.2524 0.3222 0.3046 0.4433 0.2109 0.1741 0.1957 hom 791.50 26 5 31409252 . A G 791.50 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;QD=30.44;VQSLOD=9.4097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:63.20:824,63,0 5 31423007 31423007 T C exonic DROSHA synonymous SNV DROSHA:NM_001100412:exon28:c.A3195G:p.P1065P,DROSHA:NM_013235:exon28:c.A3306G:p.P1102P 0.45 0.56 0.32 0.67 0.25 0.38 0.3302 0.5273 0.3666 0.6731 0.2630 0.2388 0.3429 0.3885 0.3 0.5 0.22 0.52 . rs2287584 COSM4003497 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3095 0.5188 0.3433 0.3053 0.6637 0.2479 0.2136 0.2857 0.3672 0.3292 0.5145 0.3421 0.3344 0.6485 0.2531 0.2087 0.2602 hom 855.61 29 5 31423007 . T C 855.61 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=29.50;VQSLOD=8.6474;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:81.20:889,81,0 5 32058115 32058115 A G exonic PDZD2 synonymous SNV PDZD2:NM_178140:exon12:c.A2106G:p.S702S 0.88 0.91 0.89 0.76 0.94 0.88 0.9057 0.9092 0.8496 0.7340 0.9160 0.9378 0.9108 0.8985 0.94 0.91 0.95 0.84 0.96 rs151861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9036 0.9139 0.8530 0.9211 0.7360 0.9179 0.9404 0.9137 0.8965 0.9087 0.9083 0.8522 0.92 0.7313 0.9199 0.9288 0.9090 hom 1746.65 54 5 32058115 . A G 1746.65 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=60.00;MQ0=0;QD=32.35;VQSLOD=9.2106;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1780,147,0 5 32403346 32403346 C T exonic ZFR nonsynonymous SNV ZFR:NM_016107:exon8:c.G1381A:p.V461I 0.92 0.98 0.88 0.86 0.96 0.88 0.9362 0.9804 0.9173 0.8518 0.9741 0.9522 0.9416 0.8858 0.96 0.98 0.95 0.9 0.97 rs4867440 . . . . . . . . . . . . . 0.489 0.080 T 0.0 0.026 B 0.0 0.013 B 0.306 0.145 N 1.000 0.090 P 2.295 0.656 M 3.47 0.052 T -0.26 0.112 N 0.022 0.005 -1.001 0.296 T 0.000 0.000 T . . . 1.446 0.236 13.03 0.861 0.158 0.152 0.186 N c -0.892 -0.789 0.997 0.355 0.707 0.730 0 0.807 0.178 0.344 0.196 -0.303 0.080 0.968 0.339 0.997 0.653 6.477 0.211 . ENSG00000150712.6 Skin_Sun_Exposed_Lower_leg 0.9355 0.9801 0.9200 0.9473 0.8439 0.9713 0.9519 0.9478 0.8899 0.9552 0.9770 0.9212 0.9238 0.8364 0.9751 0.9531 0.9562 hom 7205.96 226 5 32403346 . C T 7205.96 Mask AC=2;AF=1.00;AN=2;DP=226;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5743;MQ=59.24;MQ0=0;QD=31.88;VQSLOD=9.2876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:7205,569,0 5 33535060 33535060 G A exonic ADAMTS12 nonsynonymous SNV ADAMTS12:NM_001324512:exon21:c.C4229T:p.T1410I,ADAMTS12:NM_030955:exon23:c.C4484T:p.T1495I 0.6 0.65 0.5 0.77 0.36 0.67 0.4902 0.6138 0.6099 0.7787 0.3851 0.3894 0.4536 0.6291 0.46 0.61 0.39 0.55 0.4 rs25754 COSM4003504 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.203 0.225 T 0.129 0.254 B 0.067 0.261 B 0.006 0.324 N 0.851 0.285 P 1.96 0.533 M 0.65 0.527 T -0.78 0.216 N 0.253 0.371 -0.943 0.422 T 0.000 0.000 T . . . 4.466 0.598 24.2 0.990 0.490 0.626 0.316 D c -0.081 0.020 0.099 0.163 0.638 0.428 0 4.1 0.470 1.367 0.336 1.048 0.713 0.875 0.306 0.597 0.288 8.619 0.328 . . . 0.4894 0.6161 0.5981 0.3144 0.7841 0.3787 0.3964 0.4361 0.6272 0.4735 0.6027 0.5635 0.3433 0.7983 0.3794 0.3852 0.4398 het 1190.53 101 5 33535060 . G A 1190.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.800;DP=101;Dels=0.00;FS=2.655;HRun=1;HaplotypeScore=3.6599;MQ=59.34;MQ0=0;MQRankSum=-0.207;QD=11.79;ReadPosRankSum=0.545;VQSLOD=6.1539;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,49:101:99:1221,0,1393 5 33549387 33549387 G A exonic ADAMTS12 synonymous SNV ADAMTS12:NM_001324512:exon19:c.C3972T:p.A1324A,ADAMTS12:NM_030955:exon21:c.C4227T:p.A1409A 0.044 0.019 0.052 . 0.11 0.049 0.0866 0.0315 0.0498 0.0015 0.0851 0.1196 0.0837 0.0590 0.089 0.033 0.12 0.022 0.11 rs61748195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0854 0.0275 0.0530 0.1041 0.0012 0.0826 0.1212 0.0981 0.0609 0.0771 0.0314 0.0513 0.1225 0.0019 0.0776 0.1119 0.0818 het 1595.82 106 5 33549387 . G A 1595.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.608;DP=106;Dels=0.00;FS=1.674;HRun=0;HaplotypeScore=1.8279;MQ=58.91;MQ0=0;MQRankSum=0.409;QD=15.05;ReadPosRankSum=1.025;VQSLOD=6.0731;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,58:106:99:1626,0,1263 5 33624430 33624430 A G exonic ADAMTS12 synonymous SNV ADAMTS12:NM_030955:exon14:c.T2049C:p.D683D 0.16 0.14 0.11 0.27 0.074 0.2 0.1095 0.1348 0.0912 0.2983 0.0695 0.0707 0.1068 0.1816 0.094 0.12 0.078 0.26 0.14 rs61748198 COSM4417860 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1079 0.1376 0.0863 0.0762 0.2968 0.0710 0.0728 0.0883 0.1786 0.1076 0.1358 0.0895 0.1026 0.3048 0.0773 0.0797 0.0857 het 1252.88 89 5 33624430 . A G 1252.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.617;DP=89;Dels=0.00;FS=0.855;HRun=0;HaplotypeScore=0.9665;MQ=60.00;MQ0=0;MQRankSum=-0.620;QD=14.08;ReadPosRankSum=-1.334;VQSLOD=5.8319;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,46:89:99:1283,0,1217 5 33881252 33881252 G A exonic ADAMTS12 nonsynonymous SNV ADAMTS12:NM_001324511:exon2:c.C461T:p.T154M,ADAMTS12:NM_001324512:exon2:c.C461T:p.T154M,ADAMTS12:NM_030955:exon2:c.C461T:p.T154M 0.033 0.012 0.01 0.082 0.012 0.046 0.0219 0.0091 0.0143 0.0816 0.0005 0.0071 0.0302 0.0713 0.0074 0.0089 0.0066 0.011 0.033 rs117518215 COSM4003506;COSM4003505 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.295 0.233 T 0.789 0.899 P 0.055 0.708 B 0.010 0.301 N 1 0.090 N 2.42 0.702 M 3.37 0.059 T -0.52 0.204 N 0.18 0.271 -1.070 0.094 T 0.003 0.010 T . . . 3.561 0.486 23.1 0.996 0.723 0.081 0.139 N c -0.131 -0.225 0.993 0.331 0.706 0.609 0 1.89 0.246 1.048 0.298 0.108 0.203 0.014 0.188 0.267 0.231 5.137 0.142 Peptidase M12B\x2c propeptide . . 0.0204 0.0077 0.0105 0.0042 0.0787 0.0013 0.0072 0.0248 0.0710 0.0098 0.0070 0.0095 0.0033 0.0718 0.0003 0.0073 0.0071 het 1416.59 104 5 33881252 . G A 1416.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.029;DP=104;Dels=0.00;FS=2.602;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;MQRankSum=-1.070;QD=13.62;ReadPosRankSum=-0.344;VQSLOD=6.0162;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,58:104:99:1447,0,1235 5 33951693 33951693 C G exonic SLC45A2 nonsynonymous SNV SLC45A2:NM_001012509:exon5:c.G1122C:p.L374F,SLC45A2:NM_016180:exon5:c.G1122C:p.L374F 0.28 0.036 0.46 0.006 0.94 0.059 0.6403 0.1546 0.3391 0.0022 0.9794 0.9523 0.6498 0.0929 0.7 0.18 0.96 0.27 0.87 rs16891982 COSM5002370;COSM5002371 2(pancreas);1(skin) other|other\x2cBenign Skin/hair/eye_pigmentation\x2c_variation_in\x2c_5|Malignant_melanoma_of_skin\x2cnot_specified RCV000004763.4|RCV000022392.1\x2cRCV000178963.1 MedGen:OMIM|MeSH:MedGen:SNOMED_CT\x2cMedGen C2673584:227240|C562393:C0151779:93655004\x2cCN169374 Skin pigmentation 0.21 . 17999355 rs16891982 3E-11 0.003 0.682 D 0.995 0.657 D 0.962 0.706 D 0.000 0.629 D 0.000 0.810 P 3.005 0.862 M -1.61 0.823 D -2.68 0.609 D 0.381 0.714 -0.961 0.391 T 0.000 0.000 T . . . 5.884 0.807 27.4 0.999 0.953 0.933 0.575 D c 0.580 0.518 1.000 0.462 0.487 0.133 0 4.32 0.507 1.547 0.356 0.935 0.490 1.000 0.715 1.000 0.888 13.001 0.579 Major facilitator superfamily domain . . 0.6478 0.1454 0.379 0.9094 0.0016 0.9820 0.9553 0.7253 0.0973 0.6714 0.1632 0.4296 0.91 0.0049 0.9843 0.9650 0.8023 hom 6430.82 195 5 33951693 . C G 6430.82 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0539;MQ=59.12;MQ0=0;QD=32.98;VQSLOD=6.3892;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:6430,509,0 5 33954511 33954511 T C exonic SLC45A2 nonsynonymous SNV SLC45A2:NM_001297417:exon3:c.A661G:p.S221G 0.83 0.88 0.9 0.82 0.99 0.58 0.8968 0.8995 0.8230 0.8089 0.9961 0.9884 0.8916 0.5822 0.96 0.9 0.99 0.85 1. rs2287949 COSM5424465;COSM5424464 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000178307.1 MedGen CN169374 . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.810 P . . . . . . 0.06 0.063 N . . -0.937 0.431 T 0.000 0.000 T . . . 0.092 0.102 3.522 0.686 0.084 0.039 0.091 N c -1.502 -1.512 1.000 0.747 0.487 0.133 0 -9.46 0.005 -2.362 0.012 -0.820 0.031 0.000 0.063 0.987 0.523 0.877 0.011 . . . 0.8988 0.8984 0.8409 0.9810 0.8115 0.9962 0.9890 0.9275 0.5820 0.9518 0.8960 0.8708 0.9834 0.8296 0.9974 0.9911 0.9440 hom 2670.56 88 5 33954511 . T C 2670.56 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7801;MQ=59.21;MQ0=0;QD=30.35;VQSLOD=8.6892;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:88:99:2704,223,0 5 33989518 33989518 C T exonic AMACR nonsynonymous SNV AMACR:NM_001167595:exon5:c.G829A:p.E277K,AMACR:NM_014324:exon5:c.G829A:p.E277K 0.7 0.79 0.65 0.88 0.73 0.38 0.7016 0.7825 0.6460 0.8556 0.7561 0.7429 0.6700 0.4216 0.76 0.78 0.75 0.71 0.71 rs2278008 COSM3761202 1(large_intestine) other|Benign|Benign not_specified|Alpha-methylacyl-CoA_racemase_deficiency|Oculocutaneous_albinism RCV000116324.3|RCV000302812.1|RCV000368392.1 MedGen|MedGen:OMIM|MedGen:Orphanet:SNOMED_CT CN169374|C1858325:614307|C0078918:ORPHA55:63844009 . . . . . . 1.0 0.047 T 0.0 0.026 B 0.001 0.040 B 0.001 0.404 N 0.999 0.588 P -0.57 0.023 N 0.75 0.502 T -0.36 0.134 N 0.018 0.017 -0.948 0.414 T 0.000 0.000 T . . . 2.431 0.353 19.02 0.886 0.176 0.408 0.263 N c -0.635 -0.368 1.000 0.747 0.732 0.924 0 5.7 0.886 2.058 0.408 0.147 0.235 1.000 0.715 1.000 0.888 6.320 0.203 CoA-transferase family III domain ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.6997 0.7849 0.6452 0.7418 0.8513 0.7590 0.7420 0.6943 0.4233 0.7488 0.7848 0.6456 0.7384 0.8630 0.7577 0.7227 0.7 hom 3798.66 111 5 33989518 . C T 3798.66 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.79;MQ0=0;QD=34.22;VQSLOD=9.7371;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:111:99:3798,304,0 5 33998883 33998883 A G exonic AMACR nonsynonymous SNV AMACR:NM_001167595:exon4:c.T602C:p.L201S,AMACR:NM_014324:exon4:c.T602C:p.L201S 0.71 0.82 0.71 0.85 0.69 0.46 0.6994 0.8165 0.7390 0.8286 0.7247 0.7070 0.6718 0.4907 0.75 0.82 0.71 0.74 0.68 rs2287939 COSM5941251;COSM5941250 1(skin) other|Benign not_specified|Alpha-methylacyl-CoA_racemase_deficiency RCV000116322.3|RCV000276161.1 MedGen|MedGen:OMIM CN169374|C1858325:614307 . . . . . . 0.437 0.093 T 0.001 0.067 B 0.007 0.121 B 0.089 0.024 N 1 0.090 P 0.47 0.131 N 0.49 0.558 T -2.61 0.572 D 0.073 0.078 -0.990 0.325 T 0.000 0.000 T . . . -0.658 0.047 0.090 0.375 0.025 0.052 0.109 N c -1.752 -1.809 1.000 0.747 0.706 0.609 0 -6.14 0.019 -0.718 0.050 -1.807 0.007 0.000 0.063 0.000 0.016 10.022 0.410 CoA-transferase family III domain ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Testis|Thyroid|Whole_Blood 0.7017 0.8189 0.7367 0.7518 0.8241 0.7299 0.7043 0.6950 0.4918 0.7389 0.8167 0.6981 0.7649 0.8346 0.7367 0.6893 0.6814 hom 3099.90 112 5 33998883 . A G 3099.90 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=27.68;VQSLOD=8.2173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3133,241,0 5 34004707 34004707 C T exonic AMACR nonsynonymous SNV AMACR:NM_001167595:exon3:c.G524A:p.G175D,AMACR:NM_014324:exon3:c.G524A:p.G175D 0.25 0.024 0.4 0.35 0.5 0.1 0.4108 0.0938 0.3959 0.3293 0.5328 0.5318 0.3921 0.1265 0.38 0.11 0.52 0.27 0.46 rs10941112 COSM5941249 1(skin) other|Benign not_specified|Alpha-methylacyl-CoA_racemase_deficiency RCV000116321.3|RCV000333635.1 MedGen|MedGen:OMIM CN169374|C1858325:614307 . . . . . . 0.049 0.421 D 0.915 0.499 P 0.622 0.563 P 0.000 0.843 D 0.000 0.810 P 3.885 0.961 H -0.66 0.724 T -4.78 0.812 D 0.345 0.550 -1.012 0.264 T 0.000 0.000 T . . . 6.788 0.924 32 0.999 0.939 0.967 0.705 D c 0.920 0.858 1.0 0.983 0.745 0.986 0 5.92 0.955 4.504 0.599 0.935 0.490 1.000 0.715 0.997 0.653 20.321 0.987 CoA-transferase family III domain ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000164175.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Uterus|Whole_Blood 0.4203 0.0879 0.4117 0.5402 0.3297 0.5302 0.5292 0.4572 0.1260 0.3891 0.0972 0.4057 0.5233 0.3393 0.5545 0.5194 0.4347 hom 6207.01 204 5 34004707 . C T 6207.01 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.715;DP=204;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9833;MQ=59.29;MQ0=0;MQRankSum=-0.323;QD=30.43;ReadPosRankSum=-0.306;VQSLOD=8.0674;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,203:204:99:6206,506,0 5 34008100 34008100 C T exonic AMACR nonsynonymous SNV AMACR:NM_001167595:exon1:c.G25A:p.V9M,AMACR:NM_014324:exon1:c.G25A:p.V9M,AMACR:NM_203382:exon1:c.G25A:p.V9M 0.29 0.14 0.41 0.35 0.51 0.1 0.4227 0.2032 0.4097 0.3309 0.5393 0.5344 0.4114 0.1282 0.42 0.21 0.52 0.32 0.43 rs3195676 COSM4982414;COSM449566 1(oesophagus) other|Benign not_specified|Alpha-methylacyl-CoA_racemase_deficiency RCV000116320.3|RCV000318434.1 MedGen|MedGen:OMIM CN169374|C1858325:614307 . . . . . . 0.038 0.443 D 0.888 0.468 P 0.301 0.483 B 0.172 0.173 N 1.000 0.191 P 3.025 0.866 M 0.32 0.585 T -0.46 0.176 N 0.094 0.196 -0.902 0.478 T 0.000 0.000 T . . . 0.941 0.184 10.32 0.980 0.366 0.065 0.124 N c -1.334 -1.633 1.0 0.983 0.442 0.072 0 -9.44 0.005 -0.850 0.044 -1.196 0.016 0.000 0.063 0.003 0.074 14.296 0.657 CoA-transferase family III domain ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Uterus 0.4243 0.1912 0.4248 0.5405 0.3333 0.5259 0.5291 0.4601 0.127 0.4205 0.2011 0.4212 0.52 0.3426 0.5559 0.5213 0.4405 hom 966.03 36 5 34008100 . C T 966.03 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;QD=26.83;VQSLOD=7.3863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:75.24:999,75,0 5 34807928 34807928 C T exonic RAI14 synonymous SNV RAI14:NM_001145523:exon5:c.C321T:p.V107V,RAI14:NM_001145520:exon6:c.C345T:p.V115V,RAI14:NM_001145522:exon6:c.C345T:p.V115V,RAI14:NM_015577:exon6:c.C345T:p.V115V,RAI14:NM_001145521:exon7:c.C345T:p.V115V,RAI14:NM_001145525:exon8:c.C354T:p.V118V 0.39 0.24 0.55 0.36 0.43 0.47 0.4079 0.2698 0.5676 0.3618 0.3624 0.4034 0.4207 0.4427 0.37 0.28 0.42 0.33 0.43 rs6895634 COSM3761205;COSM3761206;COSM5830109 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4170 0.2672 0.5571 0.3901 0.3575 0.3662 0.4098 0.4197 0.4430 0.3623 0.2775 0.4916 0.3874 0.3741 0.3603 0.4009 0.3969 het 1682.24 166 5 34807928 . C T 1682.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.147;DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7569;MQ=59.06;MQ0=0;MQRankSum=-0.106;QD=10.13;ReadPosRankSum=0.090;VQSLOD=6.5263;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,74:166:99:1712,0,2268 5 34811131 34811131 G A exonic RAI14 synonymous SNV RAI14:NM_001145523:exon7:c.G441A:p.P147P,RAI14:NM_001145520:exon8:c.G465A:p.P155P,RAI14:NM_001145522:exon8:c.G465A:p.P155P,RAI14:NM_015577:exon8:c.G465A:p.P155P,RAI14:NM_001145521:exon9:c.G465A:p.P155P,RAI14:NM_001145525:exon10:c.G474A:p.P158P 0.08 0.0091 0.11 0.011 0.16 0.14 0.1624 0.0288 0.0848 0.0088 0.2709 0.1998 0.1806 0.1859 0.14 0.034 0.19 0.043 0.22 rs35607113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1632 0.0258 0.0854 0.2043 0.0080 0.2752 0.1961 0.1805 0.1870 0.1494 0.0336 0.1017 0.16 0.0111 0.2665 0.2034 0.2061 het 4050.62 248 5 34811131 . G A 4050.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.374;DP=248;DS;Dels=0.00;FS=7.057;HRun=0;HaplotypeScore=2.5218;MQ=59.34;MQ0=0;MQRankSum=1.186;QD=16.33;ReadPosRankSum=0.067;VQSLOD=4.0047;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:121,127:248:99:3387,0,3132 5 34811137 34811137 T G exonic RAI14 synonymous SNV RAI14:NM_001145523:exon7:c.T447G:p.L149L,RAI14:NM_001145520:exon8:c.T471G:p.L157L,RAI14:NM_001145522:exon8:c.T471G:p.L157L,RAI14:NM_015577:exon8:c.T471G:p.L157L,RAI14:NM_001145521:exon9:c.T471G:p.L157L,RAI14:NM_001145525:exon10:c.T480G:p.L160L 0.32 0.074 0.49 0.36 0.39 0.42 0.3503 0.1184 0.5273 0.3714 0.3364 0.3456 0.3709 0.3843 0.28 0.12 0.36 0.3 0.28 rs2271522 COSM4003508;COSM4003507 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3609 0.1154 0.5181 0.3420 0.3669 0.3369 0.3467 0.3575 0.3841 0.2871 0.1234 0.4544 0.3411 0.3829 0.3359 0.3461 0.3507 het 4151.82 244 5 34811137 . T G 4151.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.026;DP=244;DS;Dels=0.00;FS=12.880;HRun=0;HaplotypeScore=1.9970;MQ=59.42;MQ0=0;MQRankSum=0.028;QD=17.02;ReadPosRankSum=-1.201;VQSLOD=3.8710;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:123,120:244:99:3513,0,3222 5 34824555 34824555 G T exonic RAI14 nonsynonymous SNV RAI14:NM_001145522:exon14:c.G2521T:p.A841S,RAI14:NM_001145523:exon14:c.G2584T:p.A862S,RAI14:NM_001145520:exon15:c.G2608T:p.A870S,RAI14:NM_015577:exon15:c.G2608T:p.A870S,RAI14:NM_001145521:exon16:c.G2608T:p.A870S,RAI14:NM_001145525:exon17:c.G2617T:p.A873S 0.44 0.29 0.59 0.37 0.49 0.55 0.4919 0.3213 0.6029 0.3746 0.5032 0.4931 0.5136 0.5624 0.43 0.31 0.49 0.37 0.32 rs1048944 COSM3761207;COSM3761208;COSM5830114 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.28 0.001 N 2.02 0.211 T 0.15 0.053 N 0.037 0.017 -0.959 0.394 T 0.000 0.000 T . . . 1.243 0.215 11.97 0.968 0.308 0.033 0.083 N c -1.132 -0.930 1.000 0.489 0.707 0.730 0 4.43 0.528 0.624 0.240 0.152 0.238 0.266 0.248 0.863 0.360 8.811 0.339 . . . 0.4945 0.3100 0.5946 0.5127 0.3676 0.5094 0.4876 0.5084 0.5550 0.4431 0.3220 0.5444 0.4768 0.3901 0.4983 0.4959 0.5081 het 425.07 48 5 34824555 . G T 425.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.024;DP=48;Dels=0.00;FS=10.403;HRun=0;HaplotypeScore=0.9332;MQ=58.34;MQ0=0;MQRankSum=0.401;QD=8.86;ReadPosRankSum=-1.940;VQSLOD=3.7216;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,19:48:99:455,0,743 5 34840841 34840841 A G exonic TTC23L nonsynonymous SNV TTC23L:NM_001317949:exon2:c.A92G:p.H31R,TTC23L:NM_144725:exon2:c.A65G:p.H22R 0.54 0.9 0.41 0.26 0.55 0.42 0.5281 0.8561 0.3933 0.2680 0.5873 0.5479 0.5402 0.4596 0.64 0.86 0.54 0.6 . rs6451173 COSM4003509 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.678 0.044 T 0.0 0.026 B 0.002 0.063 B 0.812 0.092 N 1 0.090 P 2.3 0.659 M 2.69 0.123 T -1.1 0.285 N 0.006 0.010 -0.912 0.466 T 0.000 0.000 T . . . -1.446 0.018 0.003 0.261 0.012 0.032 0.081 N c -1.368 -1.397 1.000 0.480 0.615 0.372 0 -1.25 0.089 0.327 0.193 -0.241 0.092 0.022 0.197 0.703 0.310 5.621 0.166 . . . 0.5173 0.8676 0.3976 0.5823 0.2694 0.5824 0.5406 0.5393 0.4568 0.6278 0.8603 0.4581 0.5861 0.2732 0.5926 0.5533 0.5625 hom 6383.64 198 5 34840841 . A G 6383.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.026;DP=198;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6514;MQ=59.39;MQ0=0;MQRankSum=0.818;QD=32.24;ReadPosRankSum=-0.308;VQSLOD=8.2888;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,197:198:99:6345,484,0 5 34998877 34998877 C A exonic AGXT2 nonsynonymous SNV AGXT2:NM_001306173:exon12:c.G1267T:p.V423L,AGXT2:NM_031900:exon14:c.G1492T:p.V498L 0.24 0.046 0.26 0.42 0.23 0.29 0.2369 0.0693 0.2876 0.4198 0.2320 0.2248 0.2687 0.2599 0.18 0.076 0.23 0.21 0.25 rs16899974 . . . . . . . . . . . . . 0.243 0.564 T 0.088 0.235 B 0.041 0.226 B 0.052 0.229 N 0.993 0.238 P 1.835 0.484 L 2.26 0.387 T -1.46 0.358 N 0.098 0.150 -0.916 0.461 T 0.000 0.000 T . . . 0.954 0.185 10.39 0.896 0.184 0.678 0.333 D c -0.742 -0.614 0.989 0.318 0.487 0.133 0 3.85 0.434 1.502 0.351 -0.401 0.062 0.997 0.399 0.370 0.249 10.616 0.444 Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 2 ENSG00000168724.10 Thyroid 0.2407 0.0664 0.2801 0.1856 0.4204 0.2288 0.2267 0.2381 0.2610 0.1894 0.0703 0.2410 0.1689 0.4157 0.2155 0.2226 0.2373 hom 2835.59 97 5 34998877 . C A 2835.59 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9933;MQ=59.33;MQ0=0;QD=29.23;VQSLOD=7.9520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2869,220,0 5 35010138 35010138 A G exonic AGXT2 synonymous SNV AGXT2:NM_001306173:exon10:c.T1080C:p.G360G,AGXT2:NM_031900:exon12:c.T1305C:p.G435G 0.89 0.86 0.94 0.79 1. 0.91 0.9586 0.8721 0.9600 0.8018 0.9983 0.9992 0.9714 0.9134 0.96 0.88 1. 0.84 1. rs466067 COSM4003510 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9608 0.8696 0.9608 0.9949 0.8052 0.9988 0.9993 0.9814 0.9114 0.9500 0.8677 0.9618 1 0.7948 0.9997 0.9992 0.9827 hom 3548.49 116 5 35010138 . A G 3548.49 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.583;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5908;MQ=59.26;MQ0=0;MQRankSum=-1.075;QD=30.59;ReadPosRankSum=1.314;VQSLOD=8.5229;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,115:116:99:3548,268,0 5 35033605 35033605 G A exonic AGXT2 nonsynonymous SNV AGXT2:NM_001306173:exon6:c.C635T:p.T212I,AGXT2:NM_031900:exon6:c.C635T:p.T212I 0.88 0.8 0.93 0.78 1. 0.91 0.9491 0.8249 0.9281 0.7873 0.9949 0.9976 0.9614 0.9118 0.94 0.83 1. 0.85 0.98 rs180749 . . . . . . . . . . . . . 0.299 0.156 T 0.099 0.241 B 0.06 0.253 B 0.001 0.006 N 1 0.090 P 1.41 0.357 L -2.04 0.857 D -3.22 0.649 D 0.046 0.117 -0.934 0.435 T 0.000 0.000 T . . . -0.442 0.059 0.305 0.803 0.127 0.039 0.092 N c -1.128 -1.218 0.991 0.322 0.497 0.185 0 -5.24 0.026 -0.914 0.041 -0.200 0.102 0.000 0.063 0.017 0.128 3.214 0.062 Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 1 . . 0.9517 0.8224 0.9334 0.9948 0.7881 0.9959 0.9982 0.9730 0.9093 0.9339 0.8206 0.9391 1 0.7739 0.9983 0.9977 0.9745 hom 3982.01 141 5 35033605 . G A 3982.01 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7098;MQ=59.17;MQ0=0;QD=28.24;VQSLOD=7.4884;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,140:141:99:3981,316,0 5 35039437 35039437 A G exonic AGXT2 synonymous SNV AGXT2:NM_001306173:exon3:c.T354C:p.H118H,AGXT2:NM_031900:exon3:c.T354C:p.H118H 0.4 0.43 0.41 0.23 0.58 0.33 0.4957 0.4322 0.3254 0.2436 0.5537 0.5902 0.5088 0.3807 0.54 0.42 0.6 0.4 0.3 rs2279651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4914 0.4312 0.3371 0.5484 0.2382 0.5482 0.5962 0.5322 0.3857 0.5170 0.4293 0.3986 0.5861 0.2441 0.5558 0.5919 0.5429 het 2320.01 222 5 35039437 . A G 2320.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.060;DP=222;Dels=0.00;FS=1.054;HRun=0;HaplotypeScore=5.6179;MQ=59.12;MQ0=0;MQRankSum=-0.898;QD=10.45;ReadPosRankSum=-0.156;VQSLOD=4.9370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:127,95:222:99:2350,0,3248 5 35039486 35039486 C T exonic AGXT2 nonsynonymous SNV AGXT2:NM_001306173:exon3:c.G305A:p.S102N,AGXT2:NM_031900:exon3:c.G305A:p.S102N 0.81 0.98 0.71 0.54 0.91 0.82 0.8437 0.9729 0.5964 0.5279 0.8989 0.9031 0.8480 0.8389 0.93 0.97 0.91 0.84 0.8 rs37370 . . . . . . . . . . . . . 0.33 0.141 T 0.0 0.026 B 0.0 0.013 B 0.001 0.422 N 1 0.090 P -2.13 0.001 N 2.41 0.372 T 0.9 0.016 N 0.01 0.002 -0.949 0.412 T 0.000 0.000 T . . . 2.049 0.307 16.53 0.974 0.330 0.147 0.184 N c -1.011 -0.713 0.698 0.226 0.487 0.133 0 3.34 0.372 0.330 0.193 0.154 0.240 0.149 0.234 0.998 0.697 8.049 0.296 Pyridoxal phosphate-dependent transferase . . 0.8320 0.9759 0.6220 0.8811 0.5255 0.8959 0.9032 0.8503 0.8383 0.8945 0.9745 0.7029 0.8874 0.5409 0.9041 0.8962 0.8697 hom 4792.49 162 5 35039486 . C T 4792.49 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4023;MQ=59.36;MQ0=0;QD=29.58;VQSLOD=8.0915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:4792,376,0 5 35700598 35700598 T C exonic SPEF2 synonymous SNV SPEF2:NM_024867:exon16:c.T2142C:p.N714N 0.44 0.53 0.41 0.26 0.57 0.4 0.5095 0.5610 0.3369 0.2679 0.6022 0.5672 0.5536 0.4519 0.56 0.56 0.56 0.47 0.51 rs6451206 COSM449580 3(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000455265.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5013 0.5601 0.3519 0.5777 0.2629 0.5990 0.5618 0.5382 0.4506 0.5496 0.5666 0.3974 0.5927 0.2794 0.6026 0.5632 0.5653 hom 2275.70 84 5 35700598 . T C 2275.70 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=58.45;MQ0=0;QD=27.09;VQSLOD=6.9740;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2309,175,0 5 35709095 35709095 C T exonic SPEF2 nonsynonymous SNV SPEF2:NM_024867:exon19:c.C2711T:p.A904V . . . . . . 0.7556 0.6634 0.6575 0.7779 0.7734 0.7952 0.7795 0.6987 0.76 0.67 0.8 0.7 0.68 rs13170082 COSM3761216 1(large_intestine) Benign not_specified RCV000456071.1 MedGen CN169374 . . . . . . 0.575 0.079 T 0.001 0.067 B 0.002 0.063 B 0.803 0.068 N 1 0.090 P 1.01 0.254 L 3.31 0.068 T -0.67 0.193 N 0.029 0.013 -1.043 0.163 T 0.000 0.000 T . . . 1.316 0.222 12.35 0.778 0.116 0.011 0.040 N c -0.989 -0.981 0.008 0.117 0.554 0.246 0 -2.83 0.054 -0.059 0.116 0.065 0.171 0.031 0.203 0.932 0.405 6.649 0.220 . ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8 Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Nerve_Tibial 0.7554 0.6598 0.6815 0.8048 0.7774 0.7704 0.7951 0.7705 0.6975 0.7523 0.6615 0.7105 0.7980 0.7803 0.7778 0.7951 0.7898 hom 2699.71 94 5 35709095 . C T 2699.71 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.695;DP=94;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.3437;MQ=58.46;MQ0=0;MQRankSum=-1.471;QD=28.72;ReadPosRankSum=-0.615;VQSLOD=7.2069;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,93:94:99:2733,220,0 5 35709184 35709184 G C exonic SPEF2 nonsynonymous SNV SPEF2:NM_024867:exon19:c.G2800C:p.A934P . . . . . . 0.7556 0.6639 0.6573 0.7775 0.7732 0.7954 0.7795 0.6987 0.76 0.67 0.79 0.7 0.69 rs13170390 COSM3761217 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000454880.1 MedGen CN169374 . . . . . . 0.543 0.099 T 0.0 0.026 B 0.0 0.013 B 0.198 0.033 N 1 0.090 P -1.43 0.006 N 3.29 0.067 T -0.23 0.121 N 0.024 0.011 -0.985 0.339 T 0.000 0.000 T . . . -0.949 0.034 0.020 0.477 0.039 0.002 0.013 N c -1.724 -1.689 0.007 0.115 0.554 0.246 0 -2.15 0.067 -2.473 0.011 -1.127 0.018 0.000 0.063 0.015 0.124 0.399 0.004 . ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8 Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Nerve_Tibial 0.7551 0.6597 0.6809 0.8043 0.7772 0.7704 0.7951 0.7702 0.6970 0.7523 0.6619 0.7081 0.7980 0.7799 0.7779 0.7950 0.7882 hom 5252.76 185 5 35709184 . G C 5252.76 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6717;MQ=58.44;MQ0=0;QD=28.39;VQSLOD=6.3335;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,184:185:99:5252,397,0 5 35861068 35861068 T C exonic IL7R nonsynonymous SNV IL7R:NM_002185:exon2:c.T197C:p.I66T 0.6 0.76 0.54 0.43 0.7 0.5 0.6279 0.7506 0.4888 0.4231 0.7318 0.6748 0.6586 0.5219 0.7 0.75 0.67 0.62 0.79 rs1494558 COSM149813 1(stomach);18(soft_tissue);2(large_intestine) Pathogenic|Benign|Benign Severe_combined_immunodeficiency\x2c_autosomal_recessive\x2c_T_cell-negative\x2c_B_cell-positive\x2c_NK_cell-positive|not_specified|Severe_Combined_Immune_Deficiency RCV000015964.25|RCV000121212.2|RCV000340761.1 MedGen:OMIM|MedGen|MedGen C1837028:608971|CN169374|CN239264 . . . . . . 0.881 0.025 T 0.0 0.026 B 0.0 0.013 B 0.505 0.119 N 1.000 0.090 P . . . -0.76 0.734 T 2.11 0.004 N 0.021 0.009 -0.953 0.406 T 0.000 0.000 T . . . -0.950 0.034 0.020 0.548 0.051 0.365 0.253 N c -1.029 -0.907 1.000 0.747 0.615 0.372 0 2.16 0.265 0.311 0.190 -2.331 0.003 0.984 0.356 0.292 0.236 3.678 0.078 . ENSG00000168685.10 Testis 0.6189 0.7511 0.4872 0.6192 0.4223 0.7321 0.6743 0.6607 0.5170 0.6843 0.7474 0.5358 0.6556 0.4071 0.7387 0.6751 0.6612 hom 4086.43 135 5 35861068 . T C 4086.43 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8689;MQ=58.71;MQ0=0;QD=30.27;VQSLOD=8.6676;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4086,316,0 5 35871190 35871190 G A exonic IL7R nonsynonymous SNV IL7R:NM_002185:exon4:c.G412A:p.V138I 0.67 0.93 0.56 0.48 0.7 0.54 0.6519 0.8770 0.4982 0.4741 0.7403 0.6804 0.6799 0.5588 0.75 0.87 0.68 0.76 0.79 rs1494555 COSM149814 1(stomach);18(soft_tissue);1(pancreas);1(thyroid);2(large_intestine) Pathogenic|Benign|Benign Severe_combined_immunodeficiency\x2c_autosomal_recessive\x2c_T_cell-negative\x2c_B_cell-positive\x2c_NK_cell-positive|not_specified|Severe_Combined_Immune_Deficiency RCV000015965.26|RCV000121214.2|RCV000397982.1 MedGen:OMIM|MedGen|MedGen C1837028:608971|CN169374|CN239264 . . . . . . 0.664 0.046 T 0.0 0.026 B 0.0 0.013 B 0.488 0.121 N 1 0.090 P . . . -1.12 0.776 T -0.77 0.214 N 0.059 0.043 -0.974 0.363 T 0.000 0.000 T . . . -0.630 0.048 0.106 0.283 0.014 0.003 0.015 N c -1.365 -1.402 0.956 0.282 0.615 0.372 0 -1.61 0.079 0.106 0.151 -1.534 0.010 0.000 0.063 0.008 0.104 11.700 0.506 Fibronectin type III|Immunoglobulin-like fold ENSG00000168685.10 Testis 0.6398 0.8759 0.4953 0.6339 0.4741 0.7396 0.6791 0.6768 0.5531 0.7252 0.8671 0.5530 0.6689 0.4719 0.7443 0.6789 0.6797 hom 2934.14 99 5 35871190 . G A 2934.14 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6493;MQ=59.20;MQ0=0;QD=29.64;VQSLOD=9.1223;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2967,232,0 5 35871273 35871273 C T exonic IL7R synonymous SNV IL7R:NM_002185:exon4:c.C495T:p.H165H 0.13 0.13 0.17 0.15 0.14 0.062 0.1268 0.1273 0.1564 0.1540 0.1051 0.1358 0.1067 0.0651 0.14 0.12 0.14 0.087 0.066 rs2228141 COSM3761218 7(soft_tissue);1(large_intestine) Benign|Likely benign not_specified|Severe_Combined_Immune_Deficiency RCV000125412.1|RCV000273504.1 MedGen|MedGen CN169374|CN239264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1265 0.1272 0.1531 0.1194 0.1527 0.0995 0.1380 0.1347 0.0611 0.1268 0.1249 0.1531 0.1490 0.1518 0.1143 0.1270 0.1141 het 845.85 64 5 35871273 . C T 845.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.379;DP=64;Dels=0.00;FS=7.592;HRun=0;HaplotypeScore=4.6421;MQ=58.83;MQ0=0;MQRankSum=-0.591;QD=13.22;ReadPosRankSum=-0.605;VQSLOD=4.7106;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,33:64:99:876,0,724 5 35874575 35874575 C T exonic IL7R nonsynonymous SNV IL7R:NM_002185:exon6:c.C731T:p.T244I 0.17 0.066 0.18 0.17 0.27 0.21 0.2327 0.1016 0.1834 0.1727 0.3378 0.2640 0.2665 0.2109 0.21 0.11 0.27 0.14 0.34 rs6897932 COSM132904 2(haematopoietic_and_lymphoid_tissue);1(stomach);5(soft_tissue);1(pancreas);4(large_intestine) Benign|Benign not_specified|Severe_Combined_Immune_Deficiency RCV000121219.2|RCV000267316.1 MedGen|MedGen CN169374|CN239264 Type 1 diabetes 1.12 . 17554260 rs6897932 8E-6 0.522 0.072 T 0.0 0.026 B 0.001 0.040 B 0.188 0.032 N 1 0.090 P 0.46 0.130 N -3.91 0.961 D -0.15 0.093 N 0.073 0.062 -0.806 0.548 T 0.000 0.000 T . . . -0.235 0.073 0.925 0.714 0.093 0.011 0.040 N c -1.091 -1.060 0.996 0.343 0.615 0.372 0 -2.49 0.060 -0.430 0.070 0.023 0.146 0.000 0.063 0.543 0.278 7.369 0.258 . ENSG00000164187.6 Lung 0.2329 0.1006 0.1782 0.2196 0.1706 0.3359 0.2631 0.2532 0.2101 0.2188 0.0963 0.1802 0.2781 0.1460 0.3400 0.2687 0.25 het 1875.16 159 5 35874575 . C T 1875.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.871;DP=159;Dels=0.00;FS=1.990;HRun=0;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;MQRankSum=0.298;QD=11.79;ReadPosRankSum=1.917;VQSLOD=6.0063;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,75:159:99:1905,0,2081 5 35910529 35910529 C T exonic CAPSL nonsynonymous SNV CAPSL:NM_001042625:exon3:c.G254A:p.R85Q,CAPSL:NM_144647:exon3:c.G254A:p.R85Q 0.53 0.23 0.59 0.76 0.45 0.71 0.5051 0.2649 0.7029 0.7438 0.4923 0.4404 0.5209 0.6588 0.39 0.28 0.44 0.43 0.44 rs1445898 . . . . . . . Type 1 diabetes 1.12 . 17554260 rs1445898 8E-6 0.475 0.083 T 0.001 0.067 B 0.001 0.040 B 0.114 0.193 N 1 0.090 P 0.55 0.145 N -0.67 0.725 T 0.83 0.018 N 0.008 0.007 -0.977 0.357 T 0.000 0.000 T . . . 0.624 0.154 8.320 0.814 0.132 0.041 0.094 N c -1.184 -1.118 0.990 0.318 0.487 0.133 0 0.531 0.162 -0.981 0.038 -1.555 0.009 0.000 0.063 0.837 0.349 6.870 0.231 EF-hand domain|EF-hand domain pair . . 0.5154 0.2633 0.6856 0.4318 0.7452 0.4903 0.4369 0.4967 0.6590 0.4259 0.2693 0.6160 0.4901 0.7333 0.4928 0.4520 0.4918 het 863.76 69 5 35910529 . C T 863.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DP=69;Dels=0.00;FS=0.908;HRun=0;HaplotypeScore=1.7608;MQ=59.67;MQ0=0;MQRankSum=0.499;QD=12.52;ReadPosRankSum=0.487;VQSLOD=6.8282;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,33:69:99:894,0,979 5 35965970 35965970 A C exonic UGT3A1 nonsynonymous SNV UGT3A1:NM_152404:exon4:c.T361G:p.C121G,UGT3A1:NM_001171873:exon5:c.T199G:p.C67G 0.21 0.017 0.22 0.38 0.14 0.37 0.1941 0.0389 0.2395 0.4059 0.1302 0.1470 0.1811 0.3542 0.1 0.036 0.14 0.22 0.098 rs3756669 COSM3761220;COSM3761219 5(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.009 0.412 P 3.275 0.903 M -1.23 0.789 T -9.29 0.984 D 0.298 0.397 -1.230 0.000 T 0.000 0.000 T . . . 3.893 0.525 23.5 0.971 0.318 0.176 0.197 N c 0.131 -0.146 0.996 0.346 0.554 0.246 0 3.0 0.336 1.525 0.353 0.898 0.412 0.003 0.159 0.003 0.074 10.794 0.455 . . . 0.1916 0.0353 0.2394 0.1465 0.4071 0.1252 0.1449 0.1595 0.3381 0.1312 0.0392 0.2184 0.1060 0.4115 0.1302 0.1475 0.1762 het 898.21 82 5 35965970 . A C 898.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.391;DP=82;Dels=0.00;FS=1.902;HRun=1;HaplotypeScore=0.0000;MQ=58.26;MQ0=0;MQRankSum=0.769;QD=10.95;ReadPosRankSum=0.309;VQSLOD=5.6547;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,35:82:99:928,0,1087 5 36269551 36269551 G C exonic RANBP3L nonsynonymous SNV RANBP3L:NM_001161429:exon4:c.C209G:p.T70R,RANBP3L:NM_001323273:exon4:c.C209G:p.T70R,RANBP3L:NM_001323274:exon4:c.C209G:p.T70R,RANBP3L:NM_001323277:exon4:c.C209G:p.T70R,RANBP3L:NM_001323279:exon4:c.C209G:p.T70R,RANBP3L:NM_145000:exon4:c.C209G:p.T70R 0.81 0.65 0.83 0.71 0.96 0.94 0.9060 0.6990 0.7945 0.6907 0.9785 0.9706 0.9251 0.9363 0.89 0.72 0.97 0.79 0.96 rs1035480 . . . . . . . . . . . . . 0.23 0.255 T 0.0 0.026 B 0.0 0.013 B 0.002 0.381 N 1.000 0.182 P -2.56 0.000 N 2.15 0.384 T 1.07 0.015 N 0.163 0.314 -0.971 0.370 T 0.000 0.000 T . . . 1.157 0.206 11.52 0.548 0.051 0.005 0.024 N c -0.844 -0.542 0.900 0.260 0.487 0.133 0 4.66 0.577 2.568 0.454 0.067 0.174 1.000 0.715 0.829 0.346 11.579 0.500 . . . 0.9074 0.6983 0.8099 0.9399 0.6965 0.9791 0.9722 0.9272 0.9343 0.8795 0.7120 0.8305 0.9238 0.7031 0.9757 0.9707 0.9470 hom 4214.30 137 5 36269551 . G C 4214.30 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5652;MQ=59.10;MQ0=0;QD=30.76;VQSLOD=8.0739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:137:99:4214,322,0 5 37036492 37036492 C T exonic NIPBL synonymous SNV NIPBL:NM_015384:exon33:c.C5874T:p.S1958S,NIPBL:NM_133433:exon33:c.C5874T:p.S1958S 0.17 0.03 0.12 0.3 0.17 0.27 0.2284 0.0740 0.2456 0.4095 0.2934 0.2178 0.2110 0.2574 0.1 0.047 0.13 0.065 0.016 rs61748200 . . Benign|Benign not_specified|Cornelia_de_Lange_Syndrome RCV000082497.7|RCV000330558.1 MedGen|MedGen CN169374|CN239271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1504 0.0360 0.0896 0.1785 0.2455 0.1671 0.1386 0.1370 0.2275 0.1398 0.0509 0.1417 0.1690 0.3480 0.1698 0.1634 0.1514 het 104.53 11 5 37036492 . C T 104.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.466;QD=9.50;ReadPosRankSum=0.143;VQSLOD=11.1652;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:135,0,143 5 37167274 37167274 C T exonic C5orf42 synonymous SNV C5orf42:NM_023073:exon35:c.G7275A:p.A2425A 0.0002 . . . 0.001 . 0.0004 9.634e-05 0 0 0 0.0006 0 0.0001 0.0002 . 0.0003 . . rs137899908 . . Likely benign not_specified RCV000250589.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0001 0 0 0 0 0.0006 0.0002 0.0002 0.0002 0 0 0 0 0 0.0003 0 het 762.04 80 5 37167274 . C T 762.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.876;DP=80;Dels=0.00;FS=3.367;HRun=0;HaplotypeScore=1.8625;MQ=59.24;MQ0=0;MQRankSum=0.701;QD=9.53;ReadPosRankSum=-1.353;VQSLOD=4.3779;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,31:80:99:792,0,1258 5 37333727 37333727 A G exonic NUP155 synonymous SNV NUP155:NM_001278312:exon13:c.T1356C:p.A452A,NUP155:NM_004298:exon13:c.T1179C:p.A393A,NUP155:NM_153485:exon13:c.T1356C:p.A452A 0.35 0.85 0.22 0.12 0.15 0.22 0.2343 0.7619 0.2341 0.1224 0.2121 0.1704 0.2209 0.2204 0.35 0.73 0.16 0.38 0.2 rs150594 COSM4003519 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2175 0.7664 0.2306 0.1817 0.1146 0.2062 0.1620 0.1998 0.2121 0.3383 0.7576 0.2302 0.1788 0.1225 0.1943 0.1693 0.2082 het 452.48 53 5 37333727 . A G 452.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.790;DP=53;Dels=0.00;FS=2.728;HRun=1;HaplotypeScore=2.4534;MQ=58.73;MQ0=0;MQRankSum=-0.306;QD=8.54;ReadPosRankSum=-0.362;VQSLOD=5.7928;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,19:53:99:482,0,915 5 37364443 37364443 C T exonic NUP155 synonymous SNV NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L 0.97 0.89 1. 1. 1. 1. 0.9905 0.8955 0.9950 1 1 1.0000 0.9967 0.9999 0.97 0.9 1. 0.94 1. rs217852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9927 0.8951 0.9950 0.9999 1 1 0.9999 0.9987 0.9996 0.9711 0.9000 0.9869 1 1 1 0.9999 0.9908 hom 2082.26 73 5 37364443 . C T 2082.26 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=28.52;VQSLOD=8.0771;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2115,169,0 5 38370537 38370537 T C exonic EGFLAM nonsynonymous SNV EGFLAM:NM_001205301:exon6:c.T685C:p.W229R,EGFLAM:NM_152403:exon6:c.T685C:p.W229R 0.26 0.44 0.14 0.18 0.2 0.24 0.2117 0.4073 0.1573 0.1816 0.1954 0.1953 0.2016 0.2148 0.26 0.4 0.19 0.28 0.19 rs1465567 COSM149818;COSM4383313 1(stomach);1(large_intestine) . . . . . . . . . . . 0.663 0.055 T 0.0 0.026 B 0.0 0.013 B 0.018 0.015 N 1 0.090 P -0.925 0.013 N 0.68 0.520 T 0.0 0.070 N 0.016 0.003 -0.977 0.356 T 0.000 0.000 T . . . 0.039 0.097 2.969 0.677 0.082 0.017 0.054 N c -1.415 -1.313 1.000 0.401 0.487 0.133 0 -2.02 0.069 -0.303 0.082 -1.484 0.011 0.000 0.063 0.088 0.184 5.516 0.161 Fibronectin type III|Immunoglobulin-like fold . . 0.2024 0.4088 0.1543 0.2198 0.1755 0.1876 0.1917 0.1959 0.2125 0.2424 0.3967 0.1623 0.1854 0.1772 0.1787 0.1830 0.1996 het 612.64 45 5 38370537 . T C 612.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.309;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9713;MQ=58.02;MQ0=0;MQRankSum=-1.321;QD=13.61;ReadPosRankSum=0.264;VQSLOD=4.4256;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,26:45:99:643,0,469 5 38486065 38486065 C T exonic LIFR nonsynonymous SNV LIFR:NM_001127671:exon17:c.G2353A:p.V785I,LIFR:NM_002310:exon17:c.G2353A:p.V785I 0.14 0.12 0.27 0.022 0.19 0.15 0.1909 0.1204 0.3176 0.0240 0.1981 0.2092 0.1289 0.1608 0.19 0.12 0.22 0.11 0.18 rs3110234 COSM5019427;COSM5019428 10(soft_tissue) Benign Stuve-Wiedemann_syndrome RCV000368247.1 MedGen:OMIM:Orphanet C0796176:601559:ORPHA3206 . . . . . . 0.373 0.114 T 0.451 0.342 B 0.097 0.288 B 0.024 0.263 N 0.961 0.261 P 1.4 0.355 L 0.45 0.565 T -0.17 0.096 N 0.033 0.030 -1.018 0.243 T 0.000 0.000 T . . . 2.442 0.355 19.09 0.967 0.303 0.627 0.316 D c -0.236 -0.129 0.982 0.303 0.651 0.465 0 3.61 0.403 0.395 0.204 0.023 0.146 0.988 0.363 0.970 0.461 8.535 0.323 Fibronectin type III|Immunoglobulin-like fold ENSG00000244968.2 Testis 0.1931 0.1165 0.2963 0.1285 0.0226 0.1949 0.2140 0.1833 0.1592 0.1740 0.125 0.2667 0.1225 0.0210 0.1989 0.2065 0.2159 het 829.20 79 5 38486065 . C T 829.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.751;DP=79;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.8886;MQ=58.94;MQ0=0;MQRankSum=0.917;QD=10.50;ReadPosRankSum=0.817;VQSLOD=6.4478;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,36:79:99:859,0,1121 5 38950776 38950776 G A exonic RICTOR synonymous SNV RICTOR:NM_001285439:exon31:c.C3174T:p.S1058S,RICTOR:NM_001285440:exon31:c.C2319T:p.S773S,RICTOR:NM_152756:exon31:c.C3174T:p.S1058S 0.95 0.91 0.97 0.99 0.99 0.91 0.9658 0.9054 0.9711 0.9920 0.9924 0.9805 0.9746 0.9157 0.95 0.9 0.98 0.91 0.98 rs2115949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9688 0.9030 0.9745 0.9893 0.9917 0.9920 0.9804 0.9774 0.9156 0.9624 0.9120 0.9665 0.9834 0.9926 0.9914 0.9802 0.9755 hom 1979.12 70 5 38950776 . G A 1979.12 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.06;MQ0=0;QD=28.27;VQSLOD=8.4097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2012,162,0 5 40852451 40852451 C G exonic CARD6 synonymous SNV CARD6:NM_032587:exon3:c.C1017G:p.T339T 1. 1. 1. 0.99 1. 1. 0.9995 0.9999 1 0.9933 1 1 1 0.9999 . . . 1. 0.98 rs188934 COSM4594670 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9997 1 1 0.9942 1 1.0000 0.9998 1.0000 0.9995 0.9998 1 1 0.9926 1 0.9999 1 hom 1595.45 51 5 40852451 . C G 1595.45 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.06;MQ0=0;QD=31.28;VQSLOD=8.3521;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1628,132,0 5 40955561 40955561 G C exonic C7 nonsynonymous SNV C7:NM_000587:exon10:c.G1166C:p.S389T 0.48 0.3 0.53 0.52 0.59 0.53 0.5700 0.3275 0.5765 0.5720 0.6390 0.6052 0.6069 0.5365 0.53 0.34 0.61 0.54 . rs1063499 COSM3761227;COSM5830136 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.067 0.359 T 0.939 0.507 P 0.666 0.512 P 0.047 0.233 N 1.000 0.194 P 2.785 0.815 M -0.1 0.643 T -1.93 0.448 N 0.071 0.120 -0.903 0.477 T 0.000 0.000 T . . . 3.833 0.517 23.4 0.991 0.528 0.623 0.315 D c 0.043 -0.101 0.006 0.110 0.487 0.133 0 1.41 0.214 1.416 0.341 -0.282 0.084 0.787 0.293 0.008 0.104 7.182 0.248 Membrane attack complex component/perforin (MACPF) domain . . 0.5752 0.3198 0.5856 0.6648 0.5689 0.6404 0.5977 0.5904 0.5343 0.5283 0.3368 0.5538 0.6324 0.5675 0.6567 0.5981 0.5857 het 2110.01 181 5 40955561 . G C 2110.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.126;DP=181;Dels=0.00;FS=4.349;HRun=0;HaplotypeScore=6.9293;MQ=58.80;MQ0=0;MQRankSum=0.415;QD=11.66;ReadPosRankSum=0.080;VQSLOD=4.9413;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,83:181:99:2140,0,2582 5 40998196 40998196 T C exonic MROH2B synonymous SNV MROH2B:NM_173489:exon42:c.A4716G:p.Q1572Q 0.62 0.6 0.59 0.73 0.65 0.55 0.6354 0.6093 0.5806 0.7001 0.7210 0.6550 0.6370 0.5423 0.65 0.62 0.66 0.61 . rs704040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6347 0.6097 0.5858 0.6006 0.6991 0.7173 0.6555 0.6386 0.5382 0.6588 0.6163 0.6029 0.6026 0.6788 0.7211 0.6710 0.6592 hom 7840.11 250 5 40998196 . T C 7840.11 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5267;MQ=58.76;MQ0=0;QD=31.36;VQSLOD=6.1234;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7839,617,0 5 40998235 40998235 C T exonic MROH2B synonymous SNV MROH2B:NM_173489:exon42:c.G4677A:p.P1559P 0.33 0.29 0.36 0.3 0.39 0.3 0.3737 0.3077 0.3800 0.2987 0.4646 0.3970 0.3931 0.3164 0.37 0.31 0.4 0.35 . rs722575 COSM149820 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3758 0.3055 0.3830 0.3148 0.2979 0.4688 0.4003 0.3703 0.3106 0.3827 0.3070 0.3993 0.3113 0.2789 0.4662 0.4187 0.3855 hom 6888.19 213 5 40998235 . C T 6888.19 Mask AC=2;AF=1.00;AN=2;DP=213;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9678;MQ=59.23;MQ0=0;QD=32.34;VQSLOD=9.1581;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,213:213:99:6887,554,0 5 41000343 41000343 G A exonic MROH2B synonymous SNV MROH2B:NM_173489:exon39:c.C4461T:p.Y1487Y 0.64 0.6 0.63 0.71 0.68 0.56 0.6620 0.6198 0.6053 0.6861 0.7391 0.6948 0.6704 0.5500 0.68 0.63 0.7 0.62 . rs1001420 COSM149821 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6607 0.6183 0.6092 0.6605 0.6830 0.7355 0.6945 0.6721 0.5471 0.6827 0.6251 0.6307 0.6556 0.6617 0.7403 0.7086 0.6810 hom 2910.02 110 5 41000343 . G A 2910.02 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.481;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.1567;MQ=58.78;MQ0=0;MQRankSum=-0.682;QD=26.45;ReadPosRankSum=0.615;VQSLOD=7.4816;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,108:110:99:2943,190,0 5 41008780 41008780 A G exonic MROH2B nonsynonymous SNV MROH2B:NM_173489:exon33:c.T3536C:p.L1179P 0.78 0.87 0.83 0.59 0.81 0.79 0.8028 0.8759 0.8461 0.6166 0.7759 0.8121 0.7929 0.7999 0.84 0.88 0.82 0.86 . rs2271704 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.113 0.193 N 0.501 0.323 P -2.67 0.000 N 4.93 0.014 T 5.19 0.000 N 0.199 0.244 -1.034 0.190 T 0.000 0.000 T . . . 1.720 0.268 14.52 0.067 0.000 0.016 0.052 N c -0.888 -0.651 0.150 0.174 0.500 0.196 0 4.18 0.483 1.823 0.385 0.138 0.222 0.993 0.376 0.039 0.156 7.49 0.265 . . . 0.8041 0.8752 0.8441 0.7881 0.6185 0.7765 0.8202 0.7933 0.7979 0.8185 0.8683 0.8600 0.7848 0.6309 0.7755 0.8193 0.8006 het 801.25 89 5 41008780 . A G 801.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.740;DP=89;Dels=0.00;FS=3.125;HRun=1;HaplotypeScore=3.1324;MQ=59.74;MQ0=0;MQRankSum=1.081;QD=9.00;ReadPosRankSum=-0.022;VQSLOD=5.7954;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,30:89:99:831,0,1752 5 41042204 41042204 T A exonic MROH2B nonsynonymous SNV MROH2B:NM_173489:exon19:c.A1943T:p.D648V 0.088 0.089 0.11 0.21 0.019 0.017 0.1016 0.1632 0.3159 0.3281 0.1008 0.0429 0.0874 0.0322 0.043 0.099 0.018 0.054 . rs16870720 COSM3761230 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.435 0.538 T 0.835 0.443 P 0.531 0.468 P 0.016 0.281 N 0.462 0.320 P 2.08 0.576 M 4.93 0.014 T -0.86 0.334 N 0.562 0.596 -0.502 0.686 T 0.000 0.000 T . . . 4.041 0.543 23.7 0.713 0.093 0.745 0.361 D c 0.108 0.147 0.779 0.238 0.487 0.133 0 5.79 0.917 3.644 0.539 1.011 0.635 0.870 0.305 0.926 0.400 12.522 0.552 Armadillo-type fold . . 0.0573 0.1022 0.1267 0.0068 0.2154 0.0587 0.0165 0.0398 0.0263 0.0616 0.1015 0.1089 0.0099 0.2270 0.0639 0.0198 0.0418 het 63.18 11 5 41042204 . T A 63.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;MQRankSum=0.597;QD=5.74;ReadPosRankSum=-1.769;VQSLOD=4.4308;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,4:11:93.17:93,0,145 5 41049389 41049389 T C exonic MROH2B synonymous SNV MROH2B:NM_173489:exon14:c.A1494G:p.T498T 0.81 0.8 0.83 0.68 0.89 0.85 0.8485 0.8134 0.7749 0.6644 0.8339 0.8919 0.8613 0.8464 0.87 0.81 0.89 0.76 . rs325863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8460 0.8120 0.7839 0.9121 0.6617 0.8347 0.8933 0.8709 0.8451 0.8447 0.8107 0.8062 0.9272 0.6563 0.8315 0.8878 0.8476 het 622.31 70 5 41049389 . T C 622.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.392;DP=70;Dels=0.00;FS=3.733;HRun=2;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=-1.825;QD=8.89;ReadPosRankSum=0.340;VQSLOD=4.9391;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,24:70:99:652,0,1253 5 41049397 41049397 C T exonic MROH2B nonsynonymous SNV MROH2B:NM_173489:exon14:c.G1486A:p.V496I 0.81 0.8 0.83 0.68 0.89 0.85 0.8485 0.8134 0.7746 0.6640 0.8341 0.8919 0.8594 0.8462 0.87 0.82 0.89 0.76 . rs325864 . . . . . . . . . . . . . 0.435 0.094 T 0.0 0.026 B 0.001 0.040 B 0.378 0.134 N 1.000 0.186 P -1.12 0.009 N 3.15 0.078 T -0.31 0.121 N 0.038 0.018 -1.087 0.059 T 0.000 0.000 T . . . 1.235 0.214 11.93 0.673 0.081 0.001 0.009 N c -1.212 -1.077 0.001 0.077 0.487 0.133 0 -1.98 0.070 -1.765 0.019 -0.208 0.100 0.169 0.237 0.998 0.697 5.380 0.154 . . . 0.8460 0.8118 0.7841 0.9120 0.6618 0.8346 0.8934 0.8708 0.8449 0.8448 0.8107 0.8055 0.9272 0.6586 0.8315 0.8878 0.8473 het 721.19 70 5 41049397 . C T 721.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.768;DP=70;Dels=0.00;FS=3.635;HRun=0;HaplotypeScore=0.9993;MQ=58.80;MQ0=0;MQRankSum=-1.051;QD=10.30;ReadPosRankSum=-0.719;VQSLOD=4.8284;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,27:70:99:751,0,1072 5 41049410 41049410 C T exonic MROH2B synonymous SNV MROH2B:NM_173489:exon14:c.G1473A:p.S491S 0.049 0.087 0.033 0.001 0.053 0.052 0.0434 0.0726 0.0239 0.0008 0.0202 0.0468 0.0380 0.0574 0.058 0.079 0.048 0.054 . rs116584060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0415 0.0691 0.0269 0.0496 0.0006 0.0212 0.0471 0.0489 0.0573 0.0444 0.0687 0.0215 0.0467 0 0.0221 0.0419 0.0387 het 613.48 70 5 41049410 . C T 613.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.188;DP=70;Dels=0.00;FS=3.515;HRun=1;HaplotypeScore=2.6309;MQ=58.80;MQ0=0;MQRankSum=-1.313;QD=8.76;ReadPosRankSum=1.088;VQSLOD=4.5611;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,23:70:99:643,0,1244 5 41061716 41061716 A G exonic MROH2B nonsynonymous SNV MROH2B:NM_173489:exon6:c.T571C:p.W191R 0.78 0.81 0.76 0.66 0.85 0.83 0.8166 0.8155 0.6867 0.6536 0.8106 0.8586 0.8185 0.8257 0.85 0.81 0.86 0.5 . rs865093 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.016 0.281 N 1.000 0.197 P -2.425 0.001 N 3.6 0.045 T 4.03 0.001 N 0.068 0.055 -0.983 0.343 T 0.000 0.000 T . . . 0.876 0.178 9.925 0.814 0.132 0.039 0.092 N c -0.730 -0.413 0.003 0.097 0.487 0.133 0 3.94 0.446 1.485 0.349 0.138 0.222 0.977 0.347 0.992 0.562 5.056 0.138 Armadillo-like helical . . 0.8126 0.8158 0.6991 0.9042 0.6522 0.8102 0.8590 0.8315 0.8256 0.8241 0.8153 0.7315 0.9172 0.6509 0.8049 0.8557 0.8228 het 2743.53 201 5 41061716 . A G 2743.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.964;DP=201;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5368;MQ=58.97;MQ0=0;MQRankSum=-0.925;QD=13.65;ReadPosRankSum=0.473;VQSLOD=5.9350;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,107:201:99:2774,0,2458 5 41158863 41158863 G A exonic C6 synonymous SNV C6:NM_000065:exon13:c.C1881T:p.D627D,C6:NM_001115131:exon13:c.C1881T:p.D627D 1. 1. 1. 0.99 1. 1. 0.9996 1 1 0.9937 1 1 1 1 . . . 0.99 1. rs6866352 COSM4594733 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 1 1 1 0.9945 1 1 0.9996 1 0.9996 1 1 1 0.9932 1 1 1 hom 2277.53 77 5 41158863 . G A 2277.53 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;QD=29.58;VQSLOD=8.4070;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2311,178,0 5 41186220 41186220 T G exonic C6 synonymous SNV C6:NM_000065:exon6:c.A678C:p.T226T,C6:NM_001115131:exon6:c.A678C:p.T226T 0.042 0.068 0.03 0.001 0.058 0.042 0.0400 0.0580 0.0220 0.0001 0.0358 0.0430 0.0385 0.0513 0.051 0.065 0.044 0.054 0.0082 rs61733159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0393 0.0554 0.0257 0.0577 0.0002 0.0386 0.0421 0.0471 0.0514 0.0402 0.0553 0.0227 0.0530 0 0.0295 0.0388 0.0428 het 1099.39 93 5 41186220 . T G 1099.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.167;DP=93;Dels=0.00;FS=1.694;HRun=1;HaplotypeScore=2.9039;MQ=59.30;MQ0=0;MQRankSum=1.235;QD=11.82;ReadPosRankSum=0.496;VQSLOD=6.2329;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,44:93:99:1129,0,1290 5 41199959 41199959 G T exonic C6 nonsynonymous SNV C6:NM_000065:exon4:c.C356A:p.A119E,C6:NM_001115131:exon4:c.C356A:p.A119E 0.55 0.55 0.55 0.44 0.65 0.58 0.5936 0.5529 0.5306 0.4329 0.6063 0.6273 0.5804 0.6065 0.61 0.56 0.63 0.53 0.57 rs1801033 COSM4159876 1(thyroid) Benign not_specified RCV000455652.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.195 P -2.15 0.001 N 2.28 0.173 T 0.33 0.039 N 0.073 0.356 -1.009 0.273 T 0.000 0.000 T . . . 0.944 0.184 10.34 0.304 0.017 0.107 0.159 N c -0.669 -0.402 0.088 0.161 0.487 0.133 0 6.02 0.975 2.675 0.463 0.152 0.238 0.992 0.373 0.991 0.552 12.774 0.566 . . . 0.5935 0.5560 0.5394 0.5850 0.4304 0.6007 0.6356 0.6044 0.6054 0.5991 0.5689 0.5658 0.6026 0.4338 0.5834 0.6384 0.6202 het 843.39 76 5 41199959 . G T 843.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.220;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=-0.891;QD=11.10;ReadPosRankSum=0.147;VQSLOD=6.0061;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,33:76:99:873,0,1128 5 42700044 42700044 A G exonic GHR synonymous SNV GHR:NM_001242460:exon4:c.A492G:p.G164G,GHR:NM_001242406:exon5:c.A558G:p.G186G,GHR:NM_001242462:exon5:c.A558G:p.G186G,GHR:NM_000163:exon6:c.A558G:p.G186G,GHR:NM_001242399:exon6:c.A579G:p.G193G,GHR:NM_001242402:exon6:c.A558G:p.G186G,GHR:NM_001242403:exon6:c.A558G:p.G186G,GHR:NM_001242404:exon6:c.A558G:p.G186G,GHR:NM_001242405:exon6:c.A558G:p.G186G,GHR:NM_001242400:exon7:c.A558G:p.G186G,GHR:NM_001242401:exon7:c.A558G:p.G186G 0.64 0.4 0.77 0.82 0.68 0.66 0.7122 0.4408 0.8285 0.8565 0.6932 0.7261 0.7097 0.6785 0.63 0.45 0.73 0.66 0.69 rs6179 . . Benign|Benign not_specified|Laron-type_isolated_somatotropin_defect RCV000179264.2|RCV000323565.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0271568:262500:ORPHA633:38196001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7176 0.4322 0.8113 0.6929 0.8500 0.6939 0.7274 0.7031 0.6758 0.6466 0.4455 0.7721 0.7013 0.8292 0.7012 0.7167 0.7388 het 1863.89 118 5 42700044 . A G 1863.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.419;DP=118;Dels=0.00;FS=0.849;HRun=2;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;MQRankSum=-1.027;QD=15.80;ReadPosRankSum=-0.155;VQSLOD=5.7422;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,68:118:99:1894,0,1407 5 42719239 42719239 A C exonic GHR nonsynonymous SNV GHR:NM_001242460:exon8:c.A1564C:p.I522L,GHR:NM_001242406:exon9:c.A1630C:p.I544L,GHR:NM_000163:exon10:c.A1630C:p.I544L,GHR:NM_001242399:exon10:c.A1651C:p.I551L,GHR:NM_001242402:exon10:c.A1630C:p.I544L,GHR:NM_001242403:exon10:c.A1630C:p.I544L,GHR:NM_001242404:exon10:c.A1630C:p.I544L,GHR:NM_001242405:exon10:c.A1630C:p.I544L,GHR:NM_001242400:exon11:c.A1630C:p.I544L,GHR:NM_001242401:exon11:c.A1630C:p.I544L 0.44 0.38 0.4 0.57 0.42 0.46 0.4434 0.3888 0.3247 0.5955 0.3683 0.4533 0.4742 0.4694 0.44 0.39 0.46 0.4 0.39 rs6180 COSM3761233 1(large_intestine);1(central_nervous_system) other|Benign|Benign Familial_hypercholesterolemia|not_specified|Laron-type_isolated_somatotropin_defect RCV000009190.4|RCV000173652.2|RCV000392579.1 MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT C0020445:143890:397915002:398036000|CN169374|C0271568:262500:ORPHA633:38196001 . . . . . . 0.009 0.574 D 0.933 0.501 P 0.897 0.619 P 0.074 0.213 N 1.000 0.203 P 3.415 0.920 M 1.3 0.356 T -1.16 0.297 N 0.285 0.345 -0.908 0.471 T 0.000 0.000 T . . . 2.552 0.368 19.80 0.984 0.407 0.551 0.295 D c 0.507 0.397 1.000 0.500 0.554 0.246 0 3.43 0.382 1.579 0.359 1.140 0.893 0.992 0.373 0.943 0.417 5.415 0.156 Growth hormone-binding protein . . 0.4356 0.3844 0.3247 0.4307 0.5996 0.3711 0.4548 0.4532 0.4653 0.4260 0.3929 0.3266 0.4702 0.5881 0.3571 0.4486 0.4267 het 1007.53 78 5 42719239 . A C 1007.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.763;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7333;MQ=58.68;MQ0=0;MQRankSum=-1.141;QD=12.92;ReadPosRankSum=-1.071;VQSLOD=5.6028;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,37:78:99:1038,0,1011 5 42801268 42801268 C T exonic SELENOP unknown UNKNOWN 0.17 0.27 0.15 0.002 0.29 0.12 0.2019 0.2669 0.1189 0.0006 0.2874 0.2412 0.2328 0.1316 0.24 0.25 0.23 0.21 0.21 rs3877899 COSM4159877 1(thyroid) . . . . . . . . . . . 0.821 0.038 T . . . . . . 0.048 0.020 N 1.000 0.090 P 0.345 0.112 N 1.57 0.293 T -0.13 0.105 N 0.04 0.196 -1.010 0.268 T 0.000 0.000 T . . . 3.286 0.454 22.8 0.832 0.141 0.143 0.181 N c -0.791 -0.829 0.968 0.290 0.706 0.609 0 0.615 0.167 -0.840 0.044 0.049 0.161 0.000 0.063 0.003 0.074 9.637 0.388 Selenoprotein P\x2c N-terminal ENSG00000198865.5|ENSG00000198865.5 Artery_Aorta|Artery_Tibial 0.2014 0.2719 0.1335 0.2655 0.0003 0.2875 0.2386 0.2366 0.1318 0.2395 0.2625 0.1579 0.2483 0.0006 0.2790 0.2496 0.2037 het 1562.93 124 5 42801268 . C T 1562.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.391;DP=124;Dels=0.00;FS=11.376;HRun=0;HaplotypeScore=6.2591;MQ=59.51;MQ0=0;MQRankSum=1.640;QD=12.60;ReadPosRankSum=-0.654;VQSLOD=3.9719;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,67:124:99:1593,0,1474 5 43039793 43039793 T C exonic ANXA2R nonsynonymous SNV ANXA2R:NM_001014279:exon1:c.A356G:p.Q119R 0.18 0.12 0.35 0.0089 0.33 0.18 0.2673 0.15 0.3391 0.0061 0.2125 0.3236 0.2841 0.2206 0.27 0.15 0.33 0.14 0.31 rs1054428 COSM3761234 1(large_intestine) . . . . . . . . . . . 0.105 0.298 T 0.994 0.647 D 0.81 0.568 P . . . 1 0.090 P 0.695 0.181 N 1.47 0.320 T -1.64 0.393 N 0.047 0.030 -1.097 0.044 T 0.000 0.000 T . . . -1.567 0.015 0.002 0.602 0.062 0.010 0.039 N c -1.043 -1.345 1.0 0.983 0.623 0.393 0 -6.01 0.020 -0.537 0.062 -1.083 0.019 0.000 0.063 0.000 0.016 1.570 0.024 . ENSG00000172262.7|ENSG00000172262.7 Adipose_Subcutaneous|Artery_Tibial 0.2683 0.1467 0.3314 0.3293 0.0060 0.2111 0.3242 0.3063 0.2195 0.2436 0.1510 0.3389 0.3444 0.0062 0.2138 0.3199 0.2857 het 1975.26 165 5 43039793 . T C 1975.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.145;DP=165;Dels=0.00;FS=7.035;HRun=1;HaplotypeScore=5.8751;MQ=59.19;MQ0=0;MQRankSum=1.387;QD=11.97;ReadPosRankSum=0.015;VQSLOD=4.7458;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,77:165:99:2005,0,2573 5 43175103 43175103 C T exonic ZNF131 synonymous SNV ZNF131:NM_001330705:exon6:c.C903T:p.S301S,ZNF131:NM_001330710:exon6:c.C903T:p.S301S,ZNF131:NM_001297548:exon7:c.C1740T:p.S580S,ZNF131:NM_001330707:exon7:c.C1740T:p.S580S,ZNF131:NM_001330708:exon7:c.C1740T:p.S580S,ZNF131:NM_001330709:exon7:c.C903T:p.S301S,ZNF131:NM_001330712:exon7:c.C1740T:p.S580S,ZNF131:NM_001330714:exon7:c.C1740T:p.S580S,ZNF131:NM_001330704:exon8:c.C903T:p.S301S,ZNF131:NM_001330706:exon8:c.C1638T:p.S546S,ZNF131:NM_001330711:exon8:c.C1638T:p.S546S,ZNF131:NM_001330713:exon8:c.C1638T:p.S546S,ZNF131:NM_001330715:exon8:c.C1638T:p.S546S,ZNF131:NM_001330716:exon8:c.C1551T:p.S517S,ZNF131:NM_001330717:exon8:c.C1401T:p.S467S,ZNF131:NM_003432:exon8:c.C1638T:p.S546S 0.12 0.046 0.082 0.21 0.12 0.14 0.1141 0.0505 0.0987 0.1900 0.0445 0.1225 0.1289 0.1162 0.099 0.047 0.12 0.054 0.09 rs35397154 COSM4003541;COSM4003540 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1122 0.0497 0.1006 0.1227 0.1937 0.0437 0.1227 0.1220 0.1171 0.0906 0.0506 0.0943 0.1424 0.1892 0.0432 0.1132 0.0886 het 2100.92 157 5 43175103 . C T 2100.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.590;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9973;MQ=59.76;MQ0=0;MQRankSum=-0.753;QD=13.38;ReadPosRankSum=-0.128;VQSLOD=6.3831;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,80:157:99:2131,0,2023 5 43245922 43245922 C T exonic NIM1K synonymous SNV NIM1K:NM_153361:exon2:c.C45T:p.H15H 0.29 0.29 0.26 0.14 0.43 0.3 0.3542 0.2817 0.2073 0.1419 0.4828 0.4132 0.4009 0.3207 0.38 0.29 0.42 0.3 0.36 rs13176855 COSM3761239 1(breast);2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3518 0.2837 0.2233 0.3817 0.1413 0.4811 0.4159 0.3744 0.3057 0.3711 0.2864 0.2446 0.4536 0.1315 0.4948 0.4214 0.3924 hom 6305.91 198 5 43245922 . C T 6305.91 Mask AC=2;AF=1.00;AN=2;DP=198;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.7139;MQ=59.30;MQ0=0;QD=31.85;VQSLOD=4.8898;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,198:198:99:6305,503,0 5 43492978 43492978 G A exonic C5orf34 synonymous SNV C5orf34:NM_198566:exon9:c.C1329T:p.N443N 0.99 0.98 1. 1. 1. 1. 0.9984 0.9822 0.9995 1 1 1.0000 1 0.9999 0.99 0.98 1. 1. 1. rs10039298 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9823 0.9994 1 1 1 1.0000 0.9994 0.9999 0.9945 0.9810 0.9988 1 1 1 0.9999 0.9990 hom 3677.45 117 5 43492978 . G A 3677.45 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.16;MQ0=0;QD=31.43;VQSLOD=8.2448;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3677,289,0 5 43509348 43509348 T A exonic C5orf34 nonsynonymous SNV C5orf34:NM_198566:exon2:c.A94T:p.T32S 0.99 0.98 1. 1. 1. 1. 0.9984 0.9823 0.9995 1 1 1.0000 1 0.9999 0.99 0.98 1. 1. 1. rs6872851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9824 0.9994 1 1 1 1.0000 0.9995 0.9999 0.9945 0.9809 0.9988 1 1 1 0.9999 0.9990 hom 3339.47 104 5 43509348 . T A 3339.47 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7791;MQ=59.64;MQ0=0;QD=32.11;VQSLOD=8.3722;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3339,265,0 5 44809162 44809162 G C exonic MRPS30 nonsynonymous SNV MRPS30:NM_016640:exon1:c.G98C:p.C33S 0.4 0.25 0.46 0.54 0.37 0.45 0.4130 0.2804 0.4656 0.5489 0.3950 0.3861 0.4455 0.4732 0.33 0.27 0.37 0.36 0.3 rs3747479 . . . . . . . . . . . . . 0.779 0.033 T 0.0 0.026 B 0.002 0.063 B 0.018 0.015 N 1 0.090 P -1.39 0.006 N 2.35 0.162 T 0.17 0.051 N 0.009 0.001 -0.923 0.452 T 0.000 0.000 T . . . -1.488 0.017 0.003 0.488 0.040 0.053 0.110 N c -1.145 -1.138 1.000 0.747 0.442 0.072 0 -0.478 0.114 1.940 0.396 -0.247 0.091 0.018 0.193 0.001 0.043 4.966 0.134 . ENSG00000272335.1|ENSG00000272335.1|ENSG00000272335.1|ENSG00000251141.1|ENSG00000251141.1|ENSG00000272335.1|ENSG00000272335.1|ENSG00000272335.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Thyroid 0.4039 0.2553 0.4488 0.4013 0.5468 0.3741 0.3733 0.3997 0.4696 0.3597 0.2727 0.4341 0.3874 0.5456 0.3781 0.3800 0.3811 het 247.72 25 5 44809162 . G C 247.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.560;DP=25;Dels=0.00;FS=5.409;HRun=2;HaplotypeScore=0.0000;MQ=58.13;MQ0=0;MQRankSum=-0.465;QD=9.91;ReadPosRankSum=-0.575;VQSLOD=4.4969;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,11:25:99:278,0,453 5 50057729 50057729 G A exonic PARP8 synonymous SNV PARP8:NM_001178056:exon6:c.G420A:p.G140G,PARP8:NM_001331028:exon6:c.G357A:p.G119G,PARP8:NM_024615:exon6:c.G420A:p.G140G,PARP8:NM_001178055:exon7:c.G420A:p.G140G 0.47 0.16 0.58 0.67 0.63 0.43 0.5754 0.2255 0.5905 0.6397 0.6790 0.6367 0.5795 0.4624 0.52 0.25 0.66 0.43 0.66 rs282547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5811 0.2084 0.5892 0.5581 0.6398 0.6783 0.6351 0.5862 0.4613 0.5303 0.2207 0.6022 0.6093 0.6479 0.6804 0.6514 0.6189 hom 2142.78 78 5 50057729 . G A 2142.78 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=58.90;MQ0=0;QD=27.47;VQSLOD=7.7015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2176,172,0 5 52096889 52096889 C A exonic PELO nonsynonymous SNV PELO:NM_015946:exon2:c.C661A:p.L221M 0.9 0.91 0.9 0.85 0.93 0.92 0.9074 0.8988 0.9059 0.8299 0.9357 0.9154 0.9194 0.9107 0.91 0.89 0.92 0.91 0.93 rs1499280 COSM4408640 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.09 0.236 B 0.136 0.317 B 0.001 0.437 N 0.000 0.810 P -0.05 0.049 N 0.73 0.507 T 1.18 0.011 N 0.065 0.051 -0.983 0.344 T 0.000 0.000 T . . . 0.800 0.170 9.461 0.914 0.201 0.226 0.216 N c -0.609 -0.354 1.000 0.747 0.442 0.072 0 5.25 0.731 2.879 0.480 0.242 0.267 1.000 0.715 1.000 0.888 11.210 0.478 eRF1 domain 2 ENSG00000152684.10|ENSG00000152684.10 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.9077 0.8943 0.9040 0.9167 0.8225 0.9364 0.9159 0.9137 0.9116 0.9053 0.8905 0.8962 0.8808 0.8127 0.9310 0.9185 0.9114 hom 3860.06 116 5 52096889 . C A 3860.06 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.80;MQ0=0;QD=33.28;VQSLOD=9.6687;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3860,313,0 5 52157374 52157374 T C exonic ITGA1 synonymous SNV ITGA1:NM_181501:exon3:c.T276C:p.C92C 0.76 0.84 0.71 0.6 0.83 0.79 0.7928 0.8478 0.6704 0.5755 0.8399 0.8313 0.8084 0.7827 0.84 0.85 0.84 0.75 0.85 rs2447867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7884 0.8535 0.6730 0.8543 0.5744 0.8450 0.8318 0.8074 0.7788 0.8225 0.8474 0.7134 0.8344 0.5627 0.8599 0.8340 0.8106 hom 2756.75 102 5 52157374 . T C 2756.75 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.471;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.63;MQ0=0;MQRankSum=2.401;QD=27.03;ReadPosRankSum=1.629;VQSLOD=5.7137;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,100:102:99:2790,190,0 5 52193287 52193287 C T exonic ITGA1 synonymous SNV ITGA1:NM_181501:exon10:c.C1092T:p.A364A 0.63 0.73 0.62 0.62 0.51 0.65 0.5547 0.7006 0.6476 0.6000 0.4458 0.5015 0.5498 0.6323 0.57 0.69 0.5 0.56 0.36 rs1531545 COSM149830 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5532 0.7013 0.6340 0.6087 0.5992 0.4481 0.4970 0.5537 0.6271 0.5606 0.6951 0.6271 0.5397 0.5984 0.4619 0.5003 0.5255 hom 1226.19 39 5 52193287 . C T 1226.19 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.32;MQ0=0;QD=31.44;VQSLOD=9.3536;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1259,99,0 5 52201722 52201722 C T exonic ITGA1 nonsynonymous SNV ITGA1:NM_181501:exon12:c.C1439T:p.T480M 0.096 0.019 0.27 0.15 0.06 0.06 0.0900 0.0278 0.3592 0.1525 0.0593 0.0557 0.0738 0.0596 0.052 0.031 0.063 0.12 0.016 rs4145748 COSM149831 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas);2(large_intestine) . . . . . . . . . . . 0.013 0.538 D 0.941 0.509 P 0.587 0.485 P 0.000 0.559 D 0.002 0.447 P 1.77 0.460 L 2.7 0.122 T -2.03 0.466 N 0.165 0.199 -1.085 0.064 T 0.000 0.000 T . . . 6.819 0.926 32 0.998 0.920 0.846 0.434 D c 0.503 0.541 0.988 0.313 0.638 0.428 0 5.77 0.910 1.880 0.390 0.935 0.490 0.983 0.354 0.971 0.463 15.830 0.784 . . . 0.1008 0.0235 0.3348 0.0857 0.1462 0.0596 0.0555 0.0918 0.0596 0.0589 0.0265 0.2667 0.0894 0.1389 0.0587 0.0565 0.0652 het 1814.67 167 5 52201722 . C T 1814.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.366;DP=167;DS;Dels=0.00;FS=0.654;HRun=0;HaplotypeScore=3.4232;MQ=59.03;MQ0=0;MQRankSum=1.547;QD=10.87;ReadPosRankSum=0.458;VQSLOD=6.2540;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,74:167:99:1845,0,2233 5 52214581 52214581 G A exonic ITGA1 nonsynonymous SNV ITGA1:NM_181501:exon16:c.G2008A:p.V670I 0.098 0.018 0.27 0.15 0.062 0.06 0.0909 0.0281 0.3596 0.1573 0.0594 0.0560 0.0757 0.0605 0.053 0.032 0.064 0.12 0.016 rs2279587 COSM149832 1(stomach);1(prostate);2(large_intestine) . . . . . . . . . . . 0.16 0.237 T 0.722 0.404 P 0.576 0.482 P 0.000 0.537 D 0.019 0.397 P 1.74 0.453 L 1.12 0.387 T -0.12 0.088 N 0.095 0.095 -1.086 0.061 T 0.000 0.001 T . . . 3.698 0.502 23.3 0.993 0.569 0.838 0.426 D c 0.289 0.378 0.934 0.271 0.615 0.372 0 5.51 0.817 2.402 0.439 1.048 0.713 1.000 0.715 1.000 0.888 13.053 0.582 Integrin alpha-2|Integrin domain . . 0.1001 0.0234 0.3325 0.0856 0.1515 0.0593 0.0555 0.0910 0.0579 0.0590 0.0264 0.2626 0.0927 0.1436 0.0587 0.0566 0.0645 het 524.33 49 5 52214581 . G A 524.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.593;DP=49;Dels=0.00;FS=1.202;HRun=1;HaplotypeScore=0.6651;MQ=58.76;MQ0=0;MQRankSum=-1.055;QD=10.70;ReadPosRankSum=-1.095;VQSLOD=5.7267;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,22:49:99:554,0,789 5 52229745 52229745 T G exonic ITGA1 nonsynonymous SNV ITGA1:NM_181501:exon23:c.T2883G:p.I961M 0.097 0.018 0.27 0.15 0.061 0.056 0.0901 0.0288 0.3583 0.1577 0.0587 0.0557 0.0791 0.0547 0.052 0.031 0.063 0.12 0.016 rs12520591 . . . . . . . . . . . . . 0.083 0.330 T 0.91 0.483 P 0.77 0.550 P 0.009 0.304 N 0.031 0.387 P 2.42 0.702 M 0.84 0.475 T -0.79 0.219 N 0.274 0.332 -1.091 0.054 T 0.000 0.001 T . . . 4.438 0.594 24.2 0.997 0.795 0.821 0.411 D c 0.389 0.440 0.983 0.305 0.554 0.246 0 5.77 0.910 2.507 0.449 1.059 0.766 1.000 0.715 0.996 0.625 12.482 0.550 Integrin alpha-2|Integrin domain . . 0.0930 0.0235 0.3392 0.0833 0.1438 0.0586 0.0537 0.0830 0.0524 0.0586 0.0264 0.2664 0.0927 0.1422 0.0564 0.0566 0.0606 het 531.68 38 5 52229745 . T G 531.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.464;DP=38;Dels=0.00;FS=1.310;HRun=0;HaplotypeScore=0.9933;MQ=57.26;MQ0=0;MQRankSum=0.000;QD=13.99;ReadPosRankSum=0.147;VQSLOD=4.4055;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,21:38:99:562,0,371 5 52347369 52347369 C T exonic ITGA2 synonymous SNV ITGA2:NM_002203:exon7:c.C759T:p.F253F 0.34 0.28 0.44 0.28 0.4 0.33 0.3822 0.2933 0.4568 0.3018 0.3983 0.3966 0.3929 0.3628 0.37 0.3 0.4 0.35 0.45 rs1126643 COSM4003552;COSM4003553 1(haematopoietic_and_lymphoid_tissue) Benign Platelet-type_bleeding_disorder_9 RCV000264523.1 MedGen:OMIM:Orphanet C3280114:614200:ORPHA98886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3863 0.2886 0.4564 0.3772 0.3024 0.3959 0.3969 0.3817 0.3637 0.3667 0.2909 0.4580 0.4040 0.2863 0.3989 0.4050 0.3822 het 1242.03 95 5 52347369 . C T 1242.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.196;DP=95;Dels=0.00;FS=0.805;HRun=2;HaplotypeScore=4.6295;MQ=57.57;MQ0=1;MQRankSum=0.875;QD=13.07;ReadPosRankSum=1.522;VQSLOD=4.6514;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,50:95:99:1272,0,979 5 52351413 52351413 G A exonic ITGA2 synonymous SNV ITGA2:NM_002203:exon8:c.G825A:p.T275T . . . . . . 0.3847 0.3143 0.4574 0.3012 0.3988 0.3979 0.3932 0.3629 0.37 0.33 0.4 0.36 0.45 rs1062535 COSM3749933;COSM3749934 1(breast);1(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign Platelet-type_bleeding_disorder_9 RCV000268212.1 MedGen:OMIM:Orphanet C3280114:614200:ORPHA98886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3885 0.3087 0.4574 0.3768 0.3017 0.3964 0.3987 0.3840 0.3638 0.3726 0.3118 0.4606 0.4040 0.2807 0.3980 0.4054 0.3857 het 2337.04 141 5 52351413 . G A 2337.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.926;DP=141;Dels=0.00;FS=1.749;HRun=3;HaplotypeScore=5.5902;MQ=57.80;MQ0=0;MQRankSum=0.304;QD=16.57;ReadPosRankSum=0.974;VQSLOD=4.2748;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:58,83:141:99:2367,0,1412 5 52379277 52379277 C T exonic ITGA2 synonymous SNV ITGA2:NM_002203:exon27:c.C3252T:p.F1084F 0.33 0.28 0.43 0.29 0.37 0.33 0.3631 0.2897 0.4420 0.3115 0.3960 0.3659 0.3742 0.3567 0.34 0.3 0.36 0.34 0.4 rs2303122 COSM3761251;COSM3761252 1(NS);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Platelet-type_bleeding_disorder_9 RCV000302029.1 MedGen:OMIM:Orphanet C3280114:614200:ORPHA98886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3682 0.2850 0.4446 0.3508 0.3110 0.3941 0.3656 0.3574 0.3565 0.3511 0.2873 0.4366 0.4007 0.2932 0.3903 0.3781 0.3724 het 952.45 81 5 52379277 . C T 952.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.848;DP=81;Dels=0.00;FS=3.617;HRun=3;HaplotypeScore=3.5250;MQ=59.14;MQ0=0;MQRankSum=0.752;QD=11.76;ReadPosRankSum=-1.154;VQSLOD=5.7967;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,38:81:99:982,0,977 5 52942083 52942083 A C exonic NDUFS4 synonymous SNV NDUFS4:NM_001318051:exon3:c.A198C:p.G66G,NDUFS4:NM_002495:exon3:c.A198C:p.G66G 0.94 0.97 0.97 0.87 0.96 0.94 0.9553 0.9754 0.9838 0.8517 0.9445 0.9644 0.9489 0.9434 0.97 0.98 0.97 0.95 0.84 rs31304 . . Likely benign|Benign|Benign not_specified|Mitochondrial_complex_I_deficiency|Leigh_syndrome RCV000117714.2|RCV000280222.1|RCV000342200.1 MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C1838979:252010|C0023264:256000:ORPHA506:29570005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9554 0.9769 0.9842 0.9467 0.8517 0.9444 0.9660 0.9507 0.9444 0.9594 0.9765 0.9845 0.9437 0.8461 0.9492 0.9626 0.9663 hom 1206.71 37 5 52942083 . A C 1206.71 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=32.61;VQSLOD=9.7385;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1240,99,0 5 52942197 52942197 A G exonic NDUFS4 synonymous SNV NDUFS4:NM_001318051:exon3:c.A312G:p.R104R,NDUFS4:NM_002495:exon3:c.A312G:p.R104R 0.8 0.86 0.82 0.79 0.76 0.76 0.7734 0.8540 0.8022 0.7631 0.7512 0.7599 0.7808 0.7711 0.79 0.85 0.76 0.79 0.71 rs31303 COSM4159887 1(thyroid) Likely benign|Benign|Benign not_specified|Leigh_syndrome|Mitochondrial_complex_I_deficiency RCV000117715.2|RCV000302455.1|RCV000398452.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM CN169374|C0023264:256000:ORPHA506:29570005|C1838979:252010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7742 0.8574 0.8036 0.7394 0.7699 0.7522 0.7618 0.7686 0.7760 0.7860 0.8534 0.7864 0.7616 0.7665 0.7607 0.7564 0.7704 het 1838.31 125 5 52942197 . A G 1838.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.086;DP=125;Dels=0.00;FS=5.590;HRun=1;HaplotypeScore=2.8402;MQ=58.54;MQ0=0;MQRankSum=-0.481;QD=14.71;ReadPosRankSum=-0.386;VQSLOD=5.0168;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,71:125:99:1868,0,1371 5 53606295 53606295 T C exonic ARL15 synonymous SNV ARL15:NM_019087:exon1:c.A15G:p.R5R 0.83 0.94 0.8 0.72 0.84 0.79 0.8298 0.9304 0.7606 0.7206 0.8584 0.8443 0.8270 0.8051 0.87 0.93 0.84 0.87 . rs35941 COSM4159890 3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8165 0.9330 0.7589 0.7569 0.7096 0.8503 0.8418 0.8119 0.7906 0.8638 0.9324 0.7890 0.7947 0.7261 0.8448 0.8496 0.8495 het 278.67 28 5 53606295 . T C 278.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.488;DP=28;Dels=0.00;FS=9.428;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.415;QD=9.95;ReadPosRankSum=-0.829;VQSLOD=4.1991;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,13:28:99:309,0,411 5 53751901 53751901 G A exonic HSPB3 synonymous SNV HSPB3:NM_006308:exon1:c.G282A:p.L94L 0.48 0.43 0.46 0.37 0.62 0.54 0.5543 0.4500 0.4561 0.3509 0.6080 0.6082 0.5969 0.5532 0.55 0.46 0.6 0.47 0.59 rs7699 COSM4416599 3(haematopoietic_and_lymphoid_tissue) Benign Distal_hereditary_motor_neuronopathy RCV000286420.1 MedGen CN169884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5525 0.4492 0.4588 0.6074 0.3524 0.6150 0.6065 0.5883 0.5539 0.5339 0.4379 0.4869 0.62 0.3568 0.6189 0.5873 0.5739 het 2494.50 227 5 53751901 . G A 2494.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.636;DP=227;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7141;MQ=59.55;MQ0=0;MQRankSum=0.278;QD=10.99;ReadPosRankSum=1.439;VQSLOD=4.5646;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:126,101:227:99:2524,0,3556 5 53751988 53751988 T C exonic HSPB3 synonymous SNV HSPB3:NM_006308:exon1:c.T369C:p.G123G 0.58 0.76 0.49 0.38 0.64 0.55 0.5918 0.7391 0.4728 0.3566 0.6205 0.6222 0.6189 0.5698 0.66 0.73 0.62 0.63 0.61 rs7823 COSM1132147 4(haematopoietic_and_lymphoid_tissue);1(prostate) Benign Distal_hereditary_motor_neuronopathy RCV000347126.1 MedGen CN169884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5848 0.7412 0.4779 0.5980 0.3580 0.6275 0.6237 0.6074 0.5702 0.6279 0.7323 0.5084 0.6033 0.3590 0.6301 0.6044 0.6041 het 2317.03 188 5 53751988 . T C 2317.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.574;DP=188;Dels=0.00;FS=5.163;HRun=0;HaplotypeScore=2.7456;MQ=59.34;MQ0=0;MQRankSum=0.347;QD=12.32;ReadPosRankSum=-0.255;VQSLOD=5.8265;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,92:188:99:2347,0,2442 5 53814394 53814394 T C exonic SNX18 synonymous SNV SNX18:NM_001102575:exon1:c.T612C:p.G204G,SNX18:NM_001145427:exon1:c.T612C:p.G204G,SNX18:NM_052870:exon1:c.T612C:p.G204G 0.99 0.97 0.99 1. 0.99 0.99 0.9869 0.9737 0.9947 0.9980 0.9879 0.9859 0.9828 0.9851 0.98 0.98 0.98 0.76 0.3 rs2548614 COSM3749935;COSM3749936 2(thyroid);13(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9866 0.9746 0.9933 0.9983 0.9983 0.9872 0.9835 0.9889 0.9845 0.9830 0.9766 0.9916 1 0.9988 0.9894 0.9826 0.9827 hom 831.66 26 5 53814394 . T C 831.66 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.99;VQSLOD=13.1047;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:69.20:865,69,0 5 53815240 53815240 G C exonic SNX18 synonymous SNV SNX18:NM_001102575:exon1:c.G1458C:p.S486S,SNX18:NM_001145427:exon1:c.G1458C:p.S486S,SNX18:NM_052870:exon1:c.G1458C:p.S486S 0.32 0.24 0.35 0.48 0.23 0.35 0.2929 0.2427 0.4273 0.4641 0.2457 0.2540 0.2550 0.3187 0.24 0.23 0.25 0.25 0.2 rs61739378 COSM149834;COSM3761259 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2969 0.2465 0.4111 0.2160 0.4619 0.2384 0.2573 0.2753 0.3199 0.2757 0.2536 0.3732 0.2053 0.4596 0.2388 0.2749 0.2510 het 1409.24 97 5 53815240 . G C 1409.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.081;DP=97;Dels=0.00;FS=6.605;HRun=1;HaplotypeScore=3.5666;MQ=60.00;MQ0=0;MQRankSum=-1.139;QD=14.38;ReadPosRankSum=-0.857;VQSLOD=3.9857;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,52:97:99:1439,0,1207 5 53815495 53815495 A C exonic SNX18 nonsynonymous SNV SNX18:NM_001145427:exon1:c.A1713C:p.E571D,SNX18:NM_052870:exon1:c.A1713C:p.E571D 0.49 0.45 0.53 0.45 0.57 0.46 0.5227 0.4685 0.4714 0.4537 0.6413 0.5547 0.5419 0.4509 0.53 0.48 0.55 0.48 0.48 rs2548612 COSM4003556 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(oesophagus);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.066 0.218 N 1 0.090 P 0 0.065 N 2.71 0.132 T 0.0 0.070 N 0.019 0.005 -0.951 0.408 T 0.000 0.000 T . . . -1.130 0.027 0.009 0.062 0.000 0.001 0.007 N c -1.552 -1.576 1.000 0.480 0.033 0.002 3 -0.586 0.111 -1.124 0.033 0.014 0.141 0.000 0.063 0.000 0.016 0.470 0.005 . ENSG00000169271.1|ENSG00000178996.8|ENSG00000178996.8|ENSG00000169271.1 Artery_Tibial|Brain_Putamen_basal_ganglia|Esophagus_Muscularis|Nerve_Tibial 0.5236 0.4630 0.4841 0.4819 0.4521 0.6445 0.5538 0.5317 0.4516 0.5262 0.4603 0.5048 0.5235 0.4511 0.6486 0.5431 0.5605 het 1754.52 123 5 53815495 . A C 1754.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.718;DP=123;Dels=0.00;FS=3.258;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;MQRankSum=1.284;QD=14.26;ReadPosRankSum=0.965;VQSLOD=6.2510;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,65:123:99:1785,0,1554 5 54403957 54403957 T C exonic GZMA nonsynonymous SNV GZMA:NM_006144:exon4:c.T362C:p.M121T 0.98 0.95 0.99 1. 0.98 1. 0.9835 0.9428 0.9945 0.9998 0.9891 0.9816 0.9878 0.9980 0.97 0.94 0.98 1. 0.95 rs3104233 . . . . . . . . . . . . . 0.391 0.108 T 0.0 0.026 B 0.0 0.013 B 0.492 0.120 N 1 0.090 P -0.59 0.022 N -2.3 0.877 D 0.99 0.014 N 0.18 0.219 -0.994 0.315 T 0.000 0.000 T . . . -1.588 0.015 0.002 0.354 0.022 0.037 0.089 N c -1.746 -1.663 0.000 0.069 0.487 0.133 0 -0.872 0.101 1.054 0.299 -1.234 0.015 0.000 0.063 0.000 0.016 1.653 0.026 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9849 0.9421 0.9935 0.9963 1 0.9884 0.9802 0.9888 0.9981 0.9702 0.9413 0.9940 0.9934 1 0.9891 0.9767 0.9827 hom 1483.91 53 5 54403957 . T C 1483.91 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=28.00;VQSLOD=7.6776;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1517,114,0 5 54404015 54404015 C T exonic GZMA synonymous SNV GZMA:NM_006144:exon4:c.C420T:p.D140D 0.98 0.95 0.99 1. 0.98 1. 0.9836 0.9431 0.9946 0.9999 0.9891 0.9818 0.9890 0.9981 0.97 0.94 0.98 1. 1. rs1875506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9850 0.9422 0.9937 0.9978 1 0.9884 0.9803 0.9892 0.9981 0.9703 0.9418 0.9940 0.9934 1 0.9891 0.9768 0.9827 hom 2054.79 66 5 54404015 . C T 2054.79 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;QD=31.13;VQSLOD=8.7355;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2088,166,0 5 54410120 54410120 A C exonic CDC20B nonsynonymous SNV CDC20B:NM_001145734:exon11:c.T1360G:p.S454A,CDC20B:NM_001170402:exon12:c.T1486G:p.S496A,CDC20B:NM_152623:exon12:c.T1474G:p.S492A 0.98 0.95 0.99 1. 0.98 1. 0.9835 0.9413 0.9943 0.9999 0.9891 0.9818 0.9890 0.9980 0.97 0.94 0.98 1. . rs3104230 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.174 0.173 N 1.000 0.588 P -0.44 0.028 N 0.33 0.583 T 2.38 0.003 N 0.033 0.022 -0.945 0.418 T 0.000 0.000 T . . . 0.590 0.150 8.088 0.768 0.112 0.008 0.034 N c -0.883 -0.672 0.001 0.082 0.487 0.133 0 2.84 0.321 0.696 0.250 -0.405 0.062 0.998 0.411 0.994 0.587 8.888 0.344 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.9849 0.9399 0.9936 0.9978 1 0.9884 0.9804 0.9888 0.9981 0.9698 0.9399 0.9940 0.9934 1 0.9891 0.9768 0.9827 hom 5623.71 167 5 54410120 . A C 5623.71 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4035;MQ=59.22;MQ0=0;QD=33.67;VQSLOD=7.6125;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,166:167:99:5589,433,0 5 54420799 54420799 A C exonic CDC20B synonymous SNV CDC20B:NM_001145734:exon9:c.T1047G:p.V349V,CDC20B:NM_001170402:exon9:c.T1047G:p.V349V,CDC20B:NM_152623:exon9:c.T1047G:p.V349V 0.17 0.042 0.15 0.19 0.21 0.3 0.2022 0.0580 0.1669 0.1932 0.2602 0.1997 0.2252 0.3078 0.15 0.065 0.19 0.065 0.14 rs382402 COSM3761261;COSM149837 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2043 0.0561 0.1684 0.2201 0.1986 0.2614 0.1961 0.2014 0.3036 0.1628 0.0597 0.1782 0.2185 0.2006 0.2547 0.1923 0.2092 het 3853.92 232 5 54420799 . A C 3853.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.748;DP=232;DS;Dels=0.00;FS=4.692;HRun=2;HaplotypeScore=2.4858;MQ=58.98;MQ0=0;MQRankSum=1.046;QD=16.61;ReadPosRankSum=-0.453;VQSLOD=5.4808;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:114,118:232:99:3288,0,3004 5 54439466 54439466 G A exonic CDC20B nonsynonymous SNV CDC20B:NM_001145734:exon4:c.C361T:p.R121C,CDC20B:NM_001170402:exon4:c.C361T:p.R121C,CDC20B:NM_152623:exon4:c.C361T:p.R121C 0.74 0.56 0.87 0.73 0.83 0.84 0.8118 0.5815 0.9183 0.7363 0.8122 0.8300 0.8040 0.8482 0.75 0.6 0.83 0.69 0.82 rs1021580 COSM5001471;COSM5001470;COSM5001473;COSM5001472 1(pancreas) . . . . . . . . . . . 0.203 0.211 T 0.0 0.026 B 0.001 0.040 B 0.308 0.040 N 1 0.090 P -0.69 0.019 N 3.1 0.083 T -0.29 0.117 N 0.017 0.013 -1.007 0.279 T 0.000 0.000 T . . . 0.732 0.164 9.038 0.619 0.067 0.014 0.048 N c -1.676 -1.652 0.027 0.138 0.497 0.185 0 -1.69 0.077 -0.271 0.085 -1.172 0.016 0.000 0.063 0.002 0.062 0.908 0.012 . ENSG00000145649.7|ENSG00000164287.8 Testis|Testis 0.8194 0.5751 0.9131 0.8841 0.7345 0.8119 0.8300 0.8363 0.8461 0.7553 0.5885 0.8926 0.8642 0.75 0.8215 0.8247 0.7977 hom 1461.78 45 5 54439466 . G A 1461.78 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;QD=32.48;VQSLOD=9.2086;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1495,120,0 5 54459961 54459961 A G exonic GPX8 nonsynonymous SNV GPX8:NM_001008397:exon3:c.A545G:p.K182R,GPX8:NM_001306197:exon3:c.A392G:p.K131R,GPX8:NM_001306201:exon3:c.A266G:p.K89R 0.83 0.91 0.86 0.83 0.79 0.75 0.8095 0.8918 0.8385 0.8225 0.7416 0.8154 0.7919 0.7352 0.85 0.88 0.83 0.91 0.88 rs381852 . . . . . . . . . . . . . 0.577 0.072 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.000 0.810 P -1.455 0.005 N 3.87 0.036 T -0.03 0.075 N 0.054 0.078 -1.032 0.196 T 0.000 0.000 T . . . 2.063 0.309 16.61 0.994 0.642 0.192 0.204 N c -0.509 -0.223 1.000 0.747 0.707 0.730 0 5.92 0.955 2.012 0.403 0.132 0.216 1.000 0.715 1.000 0.888 15.410 0.745 Thioredoxin-like fold ENSG00000152669.8|ENSG00000152669.8|ENSG00000240535.4 Artery_Tibial|Nerve_Tibial|Testis 0.8087 0.8919 0.8381 0.8151 0.8197 0.7402 0.8190 0.8115 0.7387 0.8292 0.8886 0.8282 0.8113 0.8214 0.7487 0.8169 0.7953 het 1044.66 70 5 54459961 . A G 1044.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.718;DP=70;Dels=0.00;FS=0.918;HRun=1;HaplotypeScore=0.9973;MQ=59.47;MQ0=0;MQRankSum=1.549;QD=14.92;ReadPosRankSum=-0.445;VQSLOD=6.3778;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,40:70:99:1075,0,864 5 54572163 54572163 T C exonic DHX29 synonymous SNV DHX29:NM_001345964:exon14:c.A2205G:p.K735K,DHX29:NM_001345965:exon14:c.A450G:p.K150K,DHX29:NM_019030:exon14:c.A2358G:p.K786K 0.18 0.29 0.097 0.29 0.099 0.08 0.1185 0.2461 0.0595 0.2678 0.1008 0.1012 0.1361 0.0789 0.14 0.22 0.1 0.22 0.09 rs3761764 COSM4003560 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1103 0.2360 0.0555 0.0945 0.2665 0.1002 0.0975 0.1104 0.0774 0.1413 0.2340 0.0709 0.1391 0.2580 0.0828 0.0939 0.1171 het 835.78 70 5 54572163 . T C 835.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.907;DP=70;Dels=0.00;FS=3.288;HRun=0;HaplotypeScore=1.9775;MQ=58.33;MQ0=0;MQRankSum=0.754;QD=11.94;ReadPosRankSum=2.451;VQSLOD=4.8806;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,30:70:99:866,0,1035 5 54645411 54645411 G A exonic SKIV2L2 synonymous SNV SKIV2L2:NM_015360:exon12:c.G1251A:p.K417K 0.18 0.29 0.094 0.29 0.098 0.079 0.1174 0.2476 0.0553 0.2661 0.1007 0.0998 0.1302 0.0789 0.14 0.22 0.099 0.21 0.074 rs2061242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1110 0.2425 0.0551 0.0962 0.2714 0.1003 0.0968 0.1098 0.0801 0.1419 0.2387 0.0658 0.1358 0.2568 0.0828 0.0932 0.1143 het 1494.81 143 5 54645411 . G A 1494.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.909;DP=143;Dels=0.00;FS=0.625;HRun=4;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;MQRankSum=-0.103;QD=10.45;ReadPosRankSum=-0.480;VQSLOD=6.5488;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,65:143:99:1525,0,1910 5 54674296 54674296 A G exonic SKIV2L2 synonymous SNV SKIV2L2:NM_015360:exon17:c.A1965G:p.Q655Q 0.18 0.29 0.094 0.29 0.097 0.079 0.1179 0.2509 0.0553 0.2668 0.1013 0.1001 0.1308 0.0785 0.14 0.23 0.099 0.2 0.074 rs10471413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1112 0.2453 0.0551 0.0958 0.2704 0.1005 0.0966 0.1097 0.0807 0.1427 0.2411 0.0644 0.1358 0.2596 0.0832 0.0931 0.1125 het 798.91 58 5 54674296 . A G 798.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.770;DP=58;Dels=0.00;FS=1.029;HRun=0;HaplotypeScore=0.8667;MQ=59.60;MQ0=0;MQRankSum=-0.717;QD=13.77;ReadPosRankSum=-0.826;VQSLOD=6.2061;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:829,0,626 5 55081694 55081694 A G exonic DDX4 nonsynonymous SNV DDX4:NM_001166534:exon6:c.A412G:p.I138V,DDX4:NM_001142549:exon12:c.A757G:p.I253V,DDX4:NM_001166533:exon12:c.A799G:p.I267V,DDX4:NM_024415:exon13:c.A859G:p.I287V 0.099 0.029 0.12 0.16 0.13 0.092 0.1108 0.0412 0.1074 0.1606 0.1083 0.1218 0.1236 0.0862 0.094 0.046 0.12 0.076 0.082 rs2305123 COSM4159907;COSM4159908;COSM4159909 1(thyroid) . . . . . . . . . . . 0.036 0.433 D 0.057 0.327 B 0.123 0.325 B 0.000 0.629 D 0.000 0.588 P 1.61 0.413 L 0.99 0.418 T -0.88 0.240 N 0.252 0.314 -1.051 0.141 T 0.001 0.003 T . . . 3.364 0.463 22.9 0.995 0.693 0.975 0.747 D c 0.051 0.189 0.059 0.152 0.487 0.133 0 5.03 0.669 3.816 0.551 1.199 0.960 0.999 0.424 1.000 0.888 10.707 0.450 P-loop containing nucleoside triphosphate hydrolase . . 0.1116 0.0412 0.1026 0.1423 0.1632 0.1108 0.1198 0.1191 0.0874 0.0923 0.0418 0.1172 0.1424 0.1607 0.0982 0.1091 0.1158 het 1058.03 93 5 55081694 . A G 1058.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.911;DP=93;Dels=0.00;FS=1.775;HRun=0;HaplotypeScore=0.9992;MQ=59.40;MQ0=0;MQRankSum=0.977;QD=11.38;ReadPosRankSum=-1.803;VQSLOD=6.2642;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,42:93:99:1088,0,1264 5 55082474 55082474 C T exonic DDX4 synonymous SNV DDX4:NM_001166534:exon7:c.C546T:p.C182C,DDX4:NM_001142549:exon13:c.C891T:p.C297C,DDX4:NM_001166533:exon13:c.C933T:p.C311C,DDX4:NM_024415:exon14:c.C993T:p.C331C 0.47 0.63 0.55 0.5 0.31 0.3 0.3720 0.5976 0.6395 0.4805 0.2631 0.3046 0.3333 0.3037 0.41 0.59 0.32 0.51 0.33 rs957459 COSM4415677;COSM4415679;COSM4415678 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3760 0.6005 0.6101 0.3231 0.4805 0.2655 0.3053 0.3628 0.3061 0.3893 0.5950 0.5757 0.3675 0.4727 0.2563 0.2862 0.3197 het 1892.76 152 5 55082474 . C T 1892.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.862;DP=152;Dels=0.00;FS=3.847;HRun=0;HaplotypeScore=3.3980;MQ=58.53;MQ0=0;MQRankSum=0.516;QD=12.45;ReadPosRankSum=0.258;VQSLOD=5.6869;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,73:152:99:1923,0,1831 5 55155402 55155402 C T exonic IL31RA synonymous SNV IL31RA:NM_001242636:exon2:c.C72T:p.P24P,IL31RA:NM_001242637:exon2:c.C129T:p.P43P,IL31RA:NM_001297570:exon2:c.C129T:p.P43P,IL31RA:NM_139017:exon2:c.C129T:p.P43P,IL31RA:NM_001242638:exon4:c.C72T:p.P24P 0.63 0.65 0.49 0.45 0.73 0.77 0.6877 0.6581 0.3942 0.4625 0.7743 0.7393 0.7258 0.7844 0.71 0.66 0.73 0.63 0.8 rs1009639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6779 0.6599 0.4213 0.7407 0.4673 0.7689 0.7366 0.6979 0.7825 0.7081 0.6695 0.4605 0.7053 0.4765 0.7761 0.7527 0.7224 hom 5581.62 191 5 55155402 . C T 5581.62 Mask AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2199;MQ=59.08;MQ0=0;QD=29.22;VQSLOD=7.6536;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:5581,421,0 5 55178976 55178976 G A exonic IL31RA nonsynonymous SNV IL31RA:NM_001242636:exon5:c.G502A:p.D168N,IL31RA:NM_001242637:exon5:c.G559A:p.D187N,IL31RA:NM_001297570:exon5:c.G559A:p.D187N,IL31RA:NM_001297572:exon5:c.G133A:p.D45N,IL31RA:NM_139017:exon5:c.G559A:p.D187N,IL31RA:NM_001242639:exon6:c.G133A:p.D45N,IL31RA:NM_001242638:exon7:c.G502A:p.D168N 0.01 0.0008 0.014 . 0.036 0.0031 0.0223 0.0053 0.0129 0 0.0147 0.0352 0.0176 0.0026 0.025 0.0068 0.035 0.011 0.0082 rs13184107 COSM4159910;COSM4159911;COSM4159912 1(thyroid) . . . . . . . . . . . 0.428 0.096 T 0.0 0.112 B 0.002 0.093 B 0.000 0.002 N 1 0.090 N 0.09 0.084 N 0.35 0.580 T 0.33 0.039 N 0.038 0.055 -1.049 0.147 T 0.012 0.044 T . . . -1.755 0.012 0.002 0.685 0.084 0.005 0.025 N c -2.142 -2.177 1.000 0.747 0.638 0.428 0 -11.1 0.001 -0.861 0.043 -0.720 0.036 0.000 0.063 0.037 0.154 5.247 0.147 Fibronectin type III|Immunoglobulin-like fold;Fibronectin type III|Immunoglobulin-like fold|Type I cytokine receptor\x2c cytokine-binding domain . . 0.0228 0.0050 0.0135 0.0401 0 0.0157 0.0369 0.0266 0.0023 0.0211 0.0070 0.0107 0.0265 0 0.0166 0.0326 0.0276 het 969.01 73 5 55178976 . G A 969.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.856;DP=73;Dels=0.01;FS=3.165;HRun=1;HaplotypeScore=2.9448;MQ=59.44;MQ0=0;MQRankSum=0.966;QD=13.09;ReadPosRankSum=0.668;VQSLOD=6.3318;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,35:73:99:999,0,990 5 55206444 55206444 G A exonic IL31RA nonsynonymous SNV IL31RA:NM_001242636:exon12:c.G1529A:p.S510N,IL31RA:NM_001242637:exon12:c.G1586A:p.S529N,IL31RA:NM_139017:exon12:c.G1586A:p.S529N,IL31RA:NM_001242639:exon13:c.G1160A:p.S387N,IL31RA:NM_001242638:exon14:c.G1529A:p.S510N 0.31 0.33 0.22 0.33 0.3 0.34 0.3014 0.3401 0.1831 0.3343 0.2827 0.2975 0.2896 0.3665 0.31 0.34 0.29 0.28 0.33 rs161704 COSM4003561;COSM4003562 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.096 T 0.17 0.270 B 0.068 0.262 B 0.007 0.315 N 0.046 0.380 P 1.385 0.346 L 0.41 0.571 T -0.1 0.116 N 0.11 0.120 -0.993 0.319 T 0.000 0.000 T . . . 1.225 0.213 11.88 0.246 0.011 0.508 0.285 D c -0.139 -0.034 0.999 0.372 0.615 0.372 0 3.33 0.371 0.327 0.193 0.135 0.219 0.993 0.376 0.998 0.697 6.205 0.197 Fibronectin type III;Fibronectin type III|Immunoglobulin-like fold . . 0.2935 0.3439 0.1901 0.2170 0.3305 0.2812 0.3025 0.2756 0.3645 0.3094 0.3399 0.2045 0.2033 0.3245 0.2808 0.3051 0.3041 het 2416.68 175 5 55206444 . G A 2416.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.086;DP=175;Dels=0.00;FS=3.859;HRun=1;HaplotypeScore=4.3121;MQ=59.74;MQ0=0;MQRankSum=-0.294;QD=13.81;ReadPosRankSum=1.798;VQSLOD=4.9002;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,88:175:99:2447,0,2519 5 55406952 55406952 T C exonic ANKRD55 synonymous SNV ANKRD55:NM_024669:exon10:c.A1623G:p.P541P 0.22 0.086 0.13 0.31 0.28 0.3 0.2546 0.1127 0.1308 0.3062 0.2956 0.2669 0.2889 0.3430 0.22 0.12 0.27 0.16 0.3 rs321775 COSM149840 1(stomach);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2500 0.1056 0.1403 0.2869 0.3034 0.2893 0.2643 0.2606 0.3185 0.2244 0.1124 0.1818 0.3079 0.2695 0.2959 0.2653 0.2771 het 2933.67 238 5 55406952 . T C 2933.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.472;DP=238;Dels=0.00;FS=0.508;HRun=0;HaplotypeScore=3.6229;MQ=59.05;MQ0=0;MQRankSum=-1.926;QD=12.33;ReadPosRankSum=1.469;VQSLOD=4.8634;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,111:238:99:2964,0,3259 5 55407542 55407542 C T exonic ANKRD55 nonsynonymous SNV ANKRD55:NM_024669:exon10:c.G1033A:p.V345M 0.21 0.066 0.13 0.29 0.28 0.3 0.2430 0.0930 0.1275 0.2907 0.2956 0.2648 0.2835 0.3175 0.21 0.097 0.27 0.15 0.28 rs321776 COSM4407235 1(liver);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.001 0.102 B 0.001 0.040 B 0.000 0.504 N 1.000 0.090 P -1.01 0.011 N 1.41 0.370 T 0.44 0.055 N 0.055 0.055 -0.942 0.423 T 0.000 0.000 T . . . -1.592 0.015 0.002 0.096 0.001 0.020 0.060 N c -1.943 -1.914 0.999 0.375 0.554 0.283 0 -3.45 0.045 -0.275 0.085 -2.123 0.004 0.001 0.137 0.196 0.216 13.739 0.622 Ankyrin repeat-containing domain . . 0.2451 0.0867 0.1447 0.2919 0.2903 0.2907 0.2632 0.2617 0.3183 0.2174 0.0917 0.1782 0.3079 0.2544 0.2958 0.2651 0.2755 het 4491.64 250 5 55407542 . C T 4491.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.235;DP=250;DS;Dels=0.00;FS=2.928;HRun=0;HaplotypeScore=4.4009;MQ=59.30;MQ0=0;MQRankSum=-0.345;QD=17.97;ReadPosRankSum=-1.847;VQSLOD=4.4780;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,142:250:99:3849,0,2732 5 56161787 56161787 G A exonic MAP3K1 synonymous SNV MAP3K1:NM_005921:exon6:c.G1284A:p.T428T 0.8 0.77 0.72 0.72 0.87 0.94 0.8479 0.7949 0.6854 0.7038 0.8939 0.8787 0.8430 0.9254 0.85 0.8 0.88 0.83 0.84 rs832575 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8428 0.7990 0.6993 0.8723 0.7044 0.8958 0.8775 0.8386 0.9255 0.8481 0.7975 0.7005 0.8907 0.7163 0.9001 0.8844 0.8890 hom 1876.10 64 5 56161787 . G A 1876.10 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.59;MQ0=0;QD=29.31;VQSLOD=8.9668;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1909,150,0 5 56177443 56177443 G A exonic MAP3K1 nonsynonymous SNV MAP3K1:NM_005921:exon14:c.G2416A:p.D806N 0.48 0.46 0.49 0.24 0.71 0.48 0.5984 0.4878 0.3976 0.2066 0.7210 0.7105 0.6178 0.5051 0.65 0.49 0.72 0.53 0.67 rs702689 COSM4003565;COSM4003564 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.195 0.207 T 0.999 0.764 D 0.915 0.633 D 0.000 0.843 D 0.000 0.548 P 2.085 0.579 M 0.82 0.481 T -0.1 0.085 N 0.075 0.084 -0.975 0.361 T 0.000 0.000 T . . . 2.329 0.341 18.36 0.995 0.679 0.982 0.807 D c 0.683 0.722 1.000 0.489 0.566 0.321 0 5.56 0.836 8.193 0.896 1.048 0.713 1.000 0.715 1.000 0.888 19.881 0.969 . ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.5951 0.4903 0.4147 0.7317 0.2057 0.7222 0.7114 0.6248 0.5003 0.6061 0.4892 0.4555 0.7748 0.2011 0.7146 0.6930 0.6704 hom 3721.58 125 5 56177443 . G A 3721.58 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9734;MQ=59.18;MQ0=0;QD=29.77;VQSLOD=9.0278;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3721,292,0 5 56177743 56177743 G A exonic MAP3K1 nonsynonymous SNV MAP3K1:NM_005921:exon14:c.G2716A:p.V906I 0.71 0.71 0.65 0.57 0.81 0.78 0.7648 0.7433 0.5773 0.5700 0.8067 0.8192 0.7595 0.7734 0.8 0.75 0.82 0.74 0.77 rs832582 COSM4416190;COSM4416191 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.847 0.028 T 0.0 0.026 B 0.0 0.013 B 0.279 0.150 N 1 0.090 P 0.11 0.085 N 1.56 0.296 T 0.11 0.057 N 0.009 0.001 -1.009 0.273 T 0.000 0.000 T . . . -2.273 0.005 0.001 0.138 0.003 0.767 0.374 D c -0.978 -0.901 0.262 0.188 0.566 0.321 0 3.58 0.400 1.446 0.345 -0.216 0.099 0.989 0.365 0.036 0.153 12.236 0.536 . ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000271828.1|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Vagina|Whole_Blood 0.7583 0.7471 0.5915 0.8222 0.5679 0.8061 0.8197 0.7591 0.7753 0.7760 0.7459 0.6089 0.8477 0.5902 0.8130 0.8112 0.8004 hom 2665.41 83 5 56177743 . G A 2665.41 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=32.11;VQSLOD=9.7485;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2698,214,0 5 56177849 56177851 CAA - exonic MAP3K1 nonframeshift deletion MAP3K1:NM_005921:exon14:c.2822_2824del:p.T949del . . . . . . 0.7393 0.7181 0.5716 0.5585 0.7889 0.7914 0.7338 0.7348 . . . . . rs869264361 COSM4594439;COSM4594440 1(upper_aerodigestive_tract);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7413 0.7298 0.5781 0.8072 0.5516 0.7911 0.8045 0.7408 0.7555 0.7706 0.7403 0.5958 0.8425 0.5813 0.8033 0.8077 0.7961 hom 2297.08 70 5 56177848 . TCAA T 2297.08 Mask AC=2;AF=1.00;AN=2;DP=70;FS=0.000;HRun=0;HaplotypeScore=312.9599;MQ=58.99;MQ0=0;QD=32.82;set=variant2 GT:AD:DP:GQ:PL 1/1:14,53:70:99:2339,171,0 5 56178217 56178217 A C exonic MAP3K1 synonymous SNV MAP3K1:NM_005921:exon14:c.A3190C:p.R1064R 0.71 0.71 0.65 0.57 0.81 0.78 0.7653 0.7430 0.5777 0.5712 0.8071 0.8195 0.7595 0.7748 0.8 0.75 0.82 0.74 0.79 rs832583 COSM4159918;COSM4159919 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7587 0.7471 0.5917 0.8225 0.5680 0.8068 0.8199 0.7587 0.7767 0.7764 0.7465 0.6089 0.8477 0.5897 0.8130 0.8117 0.8010 hom 3230.05 101 5 56178217 . A C 3230.05 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9150;MQ=58.95;MQ0=0;QD=31.98;VQSLOD=9.3306;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3263,268,0 5 56207123 56207123 T A exonic SETD9 nonsynonymous SNV SETD9:NM_001171990:exon2:c.T226A:p.S76T,SETD9:NM_001323018:exon2:c.T148A:p.S50T,SETD9:NM_001323019:exon2:c.T226A:p.S76T,SETD9:NM_001323020:exon2:c.T148A:p.S50T,SETD9:NM_153706:exon2:c.T226A:p.S76T 0.49 0.42 0.51 0.26 0.76 0.53 0.6323 0.4742 0.4259 0.2285 0.7554 0.7522 0.6674 0.5509 0.66 0.48 0.76 0.49 0.67 rs2257505 COSM4003566 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.325 0.142 N 1 0.090 P -1.1 0.010 N 1.57 0.293 T 0.08 0.060 N 0.027 0.009 -0.976 0.360 T 0.000 0.000 T . . . -0.247 0.072 0.873 0.766 0.111 0.022 0.064 N c -1.275 -1.082 1.000 0.462 0.609 0.349 0 1.49 0.219 -0.061 0.116 0.115 0.208 0.001 0.137 0.996 0.625 3.615 0.076 . ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Vagina|Whole_Blood 0.6298 0.4724 0.4436 0.7740 0.2242 0.7543 0.7543 0.6711 0.5424 0.6317 0.4737 0.4892 0.8079 0.2073 0.7516 0.7405 0.7121 hom 1426.95 48 5 56207123 . T A 1426.95 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.73;VQSLOD=13.2877;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:48:99:1460,123,0 5 56209735 56209735 A G exonic SETD9 nonsynonymous SNV SETD9:NM_001171990:exon4:c.A625G:p.K209E,SETD9:NM_001323018:exon4:c.A547G:p.K183E,SETD9:NM_001323019:exon4:c.A625G:p.K209E,SETD9:NM_001323020:exon4:c.A547G:p.K183E,SETD9:NM_001323022:exon4:c.A169G:p.K57E,SETD9:NM_153706:exon4:c.A625G:p.K209E 0.14 0.079 0.18 0.031 0.34 0.12 0.2417 0.1141 0.1439 0.0261 0.2715 0.3261 0.2732 0.1487 0.26 0.12 0.34 0.14 0.34 rs40497 COSM4159920 1(breast);1(pancreas);1(liver);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.673 0.045 T 0.105 0.244 B 0.009 0.133 B 0.003 0.357 N 1.000 0.090 P 1.04 0.263 L 1.49 0.315 T -1.33 0.332 N 0.063 0.048 -0.967 0.378 T 0.000 0.000 T . . . 0.740 0.165 9.089 0.993 0.600 0.400 0.261 N c -0.474 -0.374 1.000 0.517 0.706 0.609 0 3.33 0.371 0.582 0.234 1.088 0.866 0.093 0.224 0.994 0.587 7.101 0.244 SET domain ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7 Artery_Aorta|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.2426 0.1075 0.1515 0.3853 0.0242 0.2742 0.3269 0.2897 0.1489 0.2285 0.1113 0.1782 0.4172 0.0160 0.2845 0.3021 0.2872 het 980.33 94 5 56209735 . A G 980.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.638;DP=94;Dels=0.00;FS=5.439;HRun=0;HaplotypeScore=1.9658;MQ=59.11;MQ0=0;MQRankSum=1.389;QD=10.43;ReadPosRankSum=0.926;VQSLOD=5.4406;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,43:94:99:1010,0,1301 5 56526783 56526783 G A exonic GPBP1 synonymous SNV GPBP1:NM_001127236:exon3:c.G195A:p.G65G,GPBP1:NM_001127235:exon4:c.G195A:p.G65G,GPBP1:NM_001331037:exon4:c.G174A:p.G58G,GPBP1:NM_022913:exon4:c.G174A:p.G58G 0.85 0.97 0.83 1. 0.65 0.77 0.7490 0.9314 0.8647 0.9983 0.6648 0.6785 0.7196 0.7437 0.76 0.93 0.68 0.88 0.57 rs1130203 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7488 0.9339 0.8540 0.6665 0.9989 0.6623 0.6802 0.7333 0.7434 0.7705 0.9277 0.8329 0.6954 0.9988 0.6497 0.6830 0.7296 hom 4562.41 160 5 56526783 . G A 4562.41 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8824;MQ=59.10;MQ0=0;QD=28.52;VQSLOD=7.3513;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4562,361,0 5 60982841 60982841 G A exonic C5orf64 nonsynonymous SNV C5orf64:NM_173667:exon3:c.G169A:p.A57T 0.5 0.45 0.49 0.65 0.34 0.57 0.4214 0.4571 0.6381 0.6803 0.3662 0.3170 0.3717 0.5604 0.36 0.43 0.32 0.49 . rs16893687 COSM3761272 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4312 0.4547 0.6247 0.2771 0.6860 0.3675 0.3230 0.3807 0.5618 0.3904 0.4387 0.6112 0.2517 0.6917 0.3725 0.3262 0.3633 het 2125.50 185 5 60982841 . G A 2125.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.044;DP=185;Dels=0.01;FS=3.421;HRun=0;HaplotypeScore=6.8855;MQ=58.48;MQ0=0;MQRankSum=1.058;QD=11.43;ReadPosRankSum=-0.522;VQSLOD=4.8266;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,85:185:99:2155,0,2490 5 60999768 60999768 C T exonic C5orf64 nonsynonymous SNV C5orf64:NM_173667:exon4:c.C301T:p.R101W 0.22 0.34 0.21 0.003 0.33 0.17 0.2958 0.3430 0.1868 0.0008 0.2673 0.3687 0.3087 0.1946 0.34 0.32 0.35 0.23 . rs436696 COSM1438081 1(skin);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2689 0.3276 0.1729 0.3544 0.0008 0.2528 0.3510 0.3093 0.1755 0.3014 0.3364 0.1794 0.2748 0.0019 0.2642 0.3309 0.2776 het 482.66 59 5 60999768 . C T 482.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.857;DP=59;Dels=0.00;FS=3.822;HRun=0;HaplotypeScore=0.9867;MQ=59.37;MQ0=0;MQRankSum=-0.505;QD=8.18;ReadPosRankSum=0.649;VQSLOD=5.8324;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,23:59:99:513,0,956 5 61694379 61694379 T C exonic DIMT1 synonymous SNV DIMT1:NM_001348076:exon6:c.A405G:p.S135S,DIMT1:NM_014473:exon6:c.A405G:p.S135S 0.58 0.72 0.5 0.68 0.48 0.47 0.5119 0.6970 0.5227 0.6521 0.4621 0.4781 0.5033 0.4717 0.55 0.7 0.47 0.55 0.43 rs247264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5095 0.6974 0.5227 0.5206 0.6513 0.4667 0.4748 0.5077 0.4755 0.5417 0.6888 0.4904 0.4768 0.6694 0.4645 0.4681 0.4857 het 1716.07 148 5 61694379 . T C 1716.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.290;DP=148;DS;Dels=0.00;FS=0.625;HRun=0;HaplotypeScore=7.4720;MQ=59.18;MQ0=0;MQRankSum=0.324;QD=11.60;ReadPosRankSum=-1.592;VQSLOD=3.7270;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,70:148:99:1746,0,2080 5 61772535 61772535 G T exonic IPO11 synonymous SNV IPO11:NM_001134779:exon9:c.G903T:p.V301V,IPO11:NM_016338:exon9:c.G783T:p.V261V 0.44 0.41 0.49 0.32 0.49 0.53 0.4703 0.4245 0.4727 0.3482 0.4560 0.4812 0.4604 0.5233 0.46 0.41 0.49 0.47 0.34 rs26635 COSM4407357;COSM149841 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4569 0.4150 0.4396 0.3981 0.3258 0.4510 0.4788 0.4493 0.5070 0.4581 0.4344 0.5109 0.4437 0.3340 0.4532 0.4819 0.4856 het 868.81 93 5 61772535 . G T 868.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.273;DP=93;Dels=0.00;FS=2.783;HRun=1;HaplotypeScore=4.9554;MQ=57.85;MQ0=0;MQRankSum=0.845;QD=9.34;ReadPosRankSum=1.109;VQSLOD=4.6112;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,39:93:99:899,0,1388 5 63905068 63905068 A G exonic RGS7BP nonsynonymous SNV RGS7BP:NM_001271890:exon4:c.A364G:p.I122V,RGS7BP:NM_001029875:exon6:c.A763G:p.I255V 0.78 0.84 0.85 0.61 0.84 0.78 0.8321 0.8456 0.8900 0.5921 0.7442 0.8620 0.8172 0.8235 0.86 0.85 0.86 0.81 0.84 rs889248 COSM149845 1(stomach);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.497 N 1.000 0.090 P -0.895 0.014 N 1.79 0.255 T 0.43 0.033 N 0.01 0.052 -0.972 0.367 T 0.000 0.000 T . . . 0.016 0.095 2.739 0.595 0.061 0.065 0.123 N c -0.628 -0.352 0.000 0.062 0.549 0.223 0 4.6 0.564 3.776 0.548 0.076 0.183 1.000 0.715 0.974 0.471 9.057 0.354 . ENSG00000186479.4 Testis 0.8316 0.8426 0.8869 0.8986 0.5961 0.7442 0.8620 0.8532 0.8256 0.8225 0.8415 0.8957 0.8808 0.5844 0.7520 0.8476 0.8200 hom 1535.64 50 5 63905068 . A G 1535.64 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.84;MQ0=0;QD=30.71;VQSLOD=8.4715;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1569,126,0 5 64097145 64097145 C G exonic CWC27 nonsynonymous SNV CWC27:NM_001297644:exon9:c.C766G:p.P256A,CWC27:NM_001297645:exon9:c.C766G:p.P256A,CWC27:NM_001318000:exon9:c.C766G:p.P256A,CWC27:NM_005869:exon9:c.C766G:p.P256A 0.41 0.5 0.22 0.51 0.34 0.41 0.3205 0.4467 0.1395 0.4581 0.3116 0.2970 0.3248 0.3907 0.35 0.43 0.31 0.37 0.057 rs7735338 COSM1754311 3(urinary_tract);1(large_intestine) . . . . . . . . . . . 0.69 0.329 T 0.0 0.026 B 0.0 0.040 B 0.409 0.046 N 1 0.090 P 0 0.065 N 1.14 0.384 T 0.44 0.033 N 0.018 0.003 -0.930 0.442 T 0.000 0.000 T . . . -1.947 0.009 0.001 0.124 0.002 0.007 0.029 N c -1.470 -1.380 0.826 0.246 0.732 0.924 0 0.351 0.152 0.333 0.194 -1.313 0.013 0.995 0.385 0.017 0.128 0.394 0.004 . ENSG00000153015.11 Testis 0.2855 0.4127 0.1256 0.2402 0.4260 0.3281 0.2662 0.2760 0.3580 0.3789 0.4817 0.2014 0.2450 0.5143 0.3520 0.3261 0.3384 hom 469.81 20 5 64097145 . C G 469.81 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.91;MQ0=0;QD=23.49;VQSLOD=7.1492;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:36.12:503,36,0 5 64267595 64267595 T C exonic CWC27 synonymous SNV CWC27:NM_001297644:exon12:c.T1108C:p.L370L,CWC27:NM_005869:exon12:c.T1108C:p.L370L 0.34 0.41 0.18 0.47 0.24 0.33 0.2683 0.3494 0.1215 0.4565 0.3259 0.2369 0.2841 0.3247 0.27 0.34 0.23 0.28 0.22 rs2278351 COSM3761277 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2604 0.3533 0.1185 0.2712 0.4553 0.3287 0.2298 0.2536 0.3211 0.2905 0.3552 0.1313 0.2616 0.4584 0.3190 0.2377 0.2887 hom 2966.85 113 5 64267595 . T C 2966.85 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.96;MQ0=0;QD=26.26;VQSLOD=7.6588;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3000,217,0 5 65317181 65317181 C T exonic ERBIN synonymous SNV ERBIN:NM_001006600:exon8:c.C565T:p.L189L,ERBIN:NM_001253697:exon8:c.C565T:p.L189L,ERBIN:NM_001253698:exon8:c.C565T:p.L189L,ERBIN:NM_001253699:exon8:c.C565T:p.L189L,ERBIN:NM_001253701:exon8:c.C565T:p.L189L,ERBIN:NM_018695:exon8:c.C565T:p.L189L 0.67 0.48 0.67 0.54 0.88 0.86 0.7708 0.5284 0.5289 0.5172 0.8561 0.8530 0.8113 0.8559 0.74 0.52 0.86 0.56 0.8 rs706679 COSM5426487;COSM5426486 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7623 0.5180 0.5341 0.7293 0.5139 0.8517 0.8604 0.7940 0.8510 0.7348 0.5346 0.5537 0.7367 0.5224 0.8509 0.8512 0.8234 hom 1887.16 68 5 65317181 . C T 1887.16 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.79;MQ0=0;QD=27.75;VQSLOD=7.4152;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:1920,147,0 5 65321311 65321311 C T exonic ERBIN nonsynonymous SNV ERBIN:NM_001006600:exon11:c.C821T:p.S274L,ERBIN:NM_001253697:exon11:c.C821T:p.S274L,ERBIN:NM_001253698:exon11:c.C821T:p.S274L,ERBIN:NM_001253699:exon11:c.C821T:p.S274L,ERBIN:NM_001253701:exon11:c.C821T:p.S274L,ERBIN:NM_018695:exon11:c.C821T:p.S274L 0.12 0.0091 0.17 0.094 0.15 0.23 0.1546 0.0288 0.1712 0.0989 0.1660 0.1551 0.1435 0.2449 0.12 0.035 0.16 0.098 0.082 rs3213837 COSM5002091;COSM5002092;COSM5002090 4(soft_tissue);1(pancreas) . . . . . . . . . . . 0.551 0.135 T 0.024 0.178 B 0.018 0.173 B 0.000 0.559 D 0.001 0.470 P 1.5 0.380 L 1.83 0.248 T -0.85 0.232 N 0.113 0.134 -1.022 0.230 T 0.000 0.001 T . . . 2.079 0.311 16.72 0.842 0.146 0.369 0.254 N c -0.717 -0.604 0.938 0.273 0.707 0.730 0 2.3 0.276 1.287 0.327 0.007 0.138 0.653 0.280 0.987 0.523 4.465 0.110 Leucine-rich repeat domain\x2c L domain-like . . 0.1538 0.0259 0.1610 0.1079 0.0948 0.1585 0.1574 0.1536 0.2408 0.1203 0.0297 0.1337 0.1192 0.1015 0.1702 0.1603 0.1585 het 2149.46 180 5 65321311 . C T 2149.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.878;DP=180;Dels=0.00;FS=0.563;HRun=2;HaplotypeScore=3.9840;MQ=58.47;MQ0=0;MQRankSum=0.836;QD=11.94;ReadPosRankSum=-1.249;VQSLOD=5.6723;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:93,86:180:99:2179,0,2269 5 66459878 66459878 G C exonic MAST4 nonsynonymous SNV MAST4:NM_001290227:exon26:c.G4088C:p.R1363P,MAST4:NM_001297651:exon26:c.G4289C:p.R1430P,MAST4:NM_001290226:exon27:c.G4253C:p.R1418P,MAST4:NM_015183:exon28:c.G4304C:p.R1435P,MAST4:NM_001164664:exon29:c.G4871C:p.R1624P 0.95 0.98 0.96 0.9 0.95 0.95 0.9583 0.9821 0.9659 0.9035 0.9403 0.9645 0.9527 0.9503 0.97 0.98 0.97 0.83 . rs1705399 COSM3761291;COSM3761288;COSM3761290;COSM3761289 3(large_intestine) . . . . . . . . . . . 0.36 0.126 T 0.0 0.026 B 0.0 0.013 B 0.744 0.064 N 1 0.090 P -0.895 0.014 N -0.12 0.650 T 1.82 0.005 N 0.015 0.458 -0.975 0.362 T 0.000 0.000 T . . . 0.584 0.150 8.045 0.390 0.027 0.026 0.070 N c -1.623 -1.603 1.000 0.473 0.659 0.489 0 -0.23 0.124 0.064 0.142 -1.120 0.018 0.000 0.063 0.000 0.016 5.375 0.154 . . . 0.9560 0.9805 0.9648 0.9809 0.8961 0.9378 0.9642 0.9587 0.9467 0.9596 0.9765 0.9570 0.9934 0.8951 0.9416 0.9607 0.9541 hom 458.53 15 5 66459878 . G C 458.53 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.57;VQSLOD=13.7648;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:42.11:492,42,0 5 66460390 66460390 G A exonic MAST4 nonsynonymous SNV MAST4:NM_001290227:exon26:c.G4600A:p.V1534I,MAST4:NM_001297651:exon26:c.G4801A:p.V1601I,MAST4:NM_001290226:exon27:c.G4765A:p.V1589I,MAST4:NM_015183:exon28:c.G4816A:p.V1606I,MAST4:NM_001164664:exon29:c.G5383A:p.V1795I 0.0098 0.0015 0.017 . 0.024 0.011 0.0188 0.0034 0.0050 0 0.0437 0.0254 0.0211 0.0104 0.016 0.0038 0.021 0.011 . rs17221458 . . . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.987 0.807 D 0.000 0.504 D 0.983 0.400 D 1.73 0.448 L -0.55 0.712 T -0.46 0.150 N 0.134 0.155 -0.267 0.759 T 0.274 0.646 T . . . 6.328 0.874 29.3 0.999 0.977 0.955 0.647 D c 0.688 0.698 1.000 0.747 0.707 0.730 0 5.14 0.699 7.619 0.821 1.048 0.713 1.000 0.715 0.943 0.417 18.805 0.920 . . . 0.0179 0.0031 0.0040 0.0091 0 0.0453 0.0242 0.0197 0.0105 0.0189 0.0037 0.0072 0.0033 0 0.0467 0.0238 0.0275 het 2343.54 163 5 66460390 . G A 2343.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.429;DP=163;Dels=0.00;FS=2.790;HRun=0;HaplotypeScore=4.9232;MQ=59.32;MQ0=0;MQRankSum=0.693;QD=14.38;ReadPosRankSum=-1.341;VQSLOD=5.1954;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,86:163:99:2374,0,2016 5 66480004 66480004 T C exonic CD180 nonsynonymous SNV CD180:NM_005582:exon3:c.A667G:p.I223V 0.99 1. 1. 0.98 1. 1. 0.9979 1 0.9996 0.9740 1 0.9999 0.9934 0.9996 1. 1. 1. 1. 1. rs1697144 . . . . . . . . . . . . . 0.783 0.033 T 0.0 0.026 B 0.0 0.013 B 0.599 0.056 N 1 0.090 P -0.13 0.045 N 1.38 0.340 T 0.22 0.047 N 0.005 0.000 -1.003 0.291 T 0.000 0.000 T . . . -2.289 0.005 0.001 0.167 0.005 0.022 0.063 N c -1.330 -1.331 0.991 0.324 0.624 0.395 0 -0.748 0.105 -0.932 0.040 -0.328 0.075 0.000 0.063 0.095 0.187 1.026 0.014 Leucine-rich repeat domain\x2c L domain-like . . 0.9981 1 0.9997 0.9997 0.9756 1 0.9999 0.9989 0.9996 0.9991 1 1 1 0.9827 0.9997 1 1 hom 2282.41 72 5 66480004 . T C 2282.41 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=31.70;VQSLOD=8.7072;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2315,178,0 5 67575548 67575548 T C exonic PIK3R1 synonymous SNV PIK3R1:NM_181523:exon5:c.T621C:p.I207I 0.019 0.0015 0.017 . 0.038 0.046 0.0358 0.0054 0.0174 0 0.0623 0.0424 0.0375 0.0495 0.03 0.0064 0.042 0.011 0.033 rs61749601 COSM5019326 1(haematopoietic_and_lymphoid_tissue);2(soft_tissue) other not_specified RCV000147278.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0357 0.0049 0.0184 0.0476 5.798e-05 0.0627 0.0404 0.0380 0.0491 0.0326 0.0042 0.0167 0.0364 0 0.0644 0.0444 0.0570 het 2180.65 153 5 67575548 . T C 2180.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.753;DP=153;Dels=0.00;FS=2.102;HRun=0;HaplotypeScore=6.0383;MQ=59.21;MQ0=0;MQRankSum=0.488;QD=14.25;ReadPosRankSum=-0.746;VQSLOD=4.7525;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,87:153:99:2211,0,1728 5 68531253 68531253 C T exonic CDK7 nonsynonymous SNV CDK7:NM_001324071:exon2:c.C65T:p.T22I 0.63 0.77 0.64 0.5 0.54 0.66 0.5842 0.7165 0.6562 0.5091 0.5757 0.5433 0.5650 0.6591 0.6 0.71 0.54 0.6 0.6 rs2972388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5808 0.7190 0.6450 0.5447 0.5026 0.5786 0.5379 0.5709 0.6564 0.5993 0.7158 0.6295 0.5298 0.4963 0.5807 0.5476 0.5840 het 1046.48 120 5 68531253 . C T 1046.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.672;DP=120;Dels=0.00;FS=8.819;HRun=0;HaplotypeScore=0.9995;MQ=59.69;MQ0=0;MQRankSum=-1.038;QD=8.72;ReadPosRankSum=-0.065;VQSLOD=3.5731;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,47:120:99:1076,0,1840 5 68616331 68616331 C T exonic CCDC125 nonsynonymous SNV CCDC125:NM_001297696:exon2:c.G37A:p.V13M,CCDC125:NM_176816:exon2:c.G37A:p.V13M 0.26 0.062 0.3 0.28 0.45 0.28 0.3684 0.1205 0.2863 0.2950 0.4215 0.4439 0.4029 0.2926 0.34 0.13 0.44 0.29 0.35 rs10471774 . . . . . . . . . . . . . 0.054 0.390 T 0.994 0.647 D 0.649 0.506 P 0.631 0.107 N 1 0.245 P 1.95 0.526 M 0.91 0.468 T -0.62 0.208 N 0.043 0.025 -0.914 0.464 T 0.000 0.000 T . . . 3.465 0.474 23.0 0.997 0.821 0.255 0.225 N c -0.187 -0.320 0.002 0.093 0.706 0.609 0 4.02 0.458 1.404 0.340 0.934 0.450 0.001 0.137 0.272 0.232 11.374 0.488 . ENSG00000183323.8|ENSG00000213830.3|ENSG00000197822.6|ENSG00000197822.6|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3|ENSG00000153044.5|ENSG00000085231.9|ENSG00000253203.2|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3|ENSG00000183323.8|ENSG00000197822.6|ENSG00000183323.8|ENSG00000085231.9|ENSG00000253203.2|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3|ENSG00000253203.2|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3|ENSG00000183323.8|ENSG00000134056.7|ENSG00000183323.8|ENSG00000197822.6|ENSG00000183323.8|ENSG00000213830.3|ENSG00000253203.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3720 0.1193 0.2965 0.3522 0.3038 0.4172 0.4526 0.3985 0.2957 0.3398 0.1277 0.3043 0.3433 0.3022 0.4169 0.4473 0.4008 het 1823.50 147 5 68616331 . C T 1823.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.008;DP=147;Dels=0.00;FS=5.247;HRun=0;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;MQRankSum=0.281;QD=12.40;ReadPosRankSum=-0.757;VQSLOD=5.8568;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,74:147:99:1853,0,1726 5 68695940 68695940 T G exonic RAD17 nonsynonymous SNV RAD17:NM_133339:exon14:c.T1670G:p.L557R,RAD17:NM_133340:exon14:c.T1142G:p.L381R,RAD17:NM_133341:exon14:c.T1379G:p.L460R,RAD17:NM_002873:exon15:c.T1637G:p.L546R,RAD17:NM_133344:exon15:c.T1637G:p.L546R,RAD17:NM_001278622:exon16:c.T1637G:p.L546R,RAD17:NM_133342:exon16:c.T1637G:p.L546R,RAD17:NM_133343:exon16:c.T1637G:p.L546R,RAD17:NM_133338:exon17:c.T1637G:p.L546R 0.25 0.045 0.3 0.32 0.32 0.37 0.2992 0.0771 0.2388 0.3119 0.3198 0.3219 0.3097 0.3740 0.24 0.084 0.32 0.18 0.28 rs1045051 COSM3761298;COSM3761297 1(liver);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.588 P 2.56 0.750 M 1.79 0.255 T -2.82 0.629 D 0.405 0.700 -1.039 0.176 T 0.000 0.000 T . . . 6.449 0.890 29.8 0.998 0.886 0.980 0.786 D c 0.756 0.740 1.000 0.429 0.732 0.924 0 5.73 0.897 7.445 0.795 1.011 0.635 1.000 0.715 0.997 0.653 15.060 0.715 . ENSG00000183323.8|ENSG00000153044.5|ENSG00000152942.14|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3|ENSG00000134056.7|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood|Whole_Blood 0.2932 0.0684 0.2330 0.2710 0.3031 0.3232 0.3178 0.2894 0.3622 0.2485 0.0798 0.2386 0.2919 0.3064 0.3063 0.3247 0.3132 het 652.29 86 5 68695940 . T G 652.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.583;DP=86;Dels=0.00;FS=1.828;HRun=0;HaplotypeScore=0.0000;MQ=58.00;MQ0=0;MQRankSum=0.059;QD=7.58;ReadPosRankSum=-1.285;VQSLOD=3.5300;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,33:86:99:682,0,1270 5 68715310 68715310 C T exonic MARVELD2 nonsynonymous SNV MARVELD2:NM_001038603:exon2:c.C98T:p.T33I,MARVELD2:NM_001244734:exon2:c.C98T:p.T33I 0.48 0.42 0.54 0.49 0.49 0.52 0.4997 0.4215 0.5209 0.4862 0.5825 0.4918 0.5253 0.5382 0.47 0.42 0.49 0.4 0.48 rs1185246 COSM4407145 1(liver);1(oesophagus) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000036814.3|RCV000352210.1 MedGen|MedGen CN169374|CN239439 . . . . . . 0.074 0.413 T 0.078 0.423 B 0.054 0.385 B 0.262 0.037 N 1 0.090 P 1.59 0.404 L 1.49 0.456 T -0.71 0.202 N 0.049 0.271 -0.946 0.417 T 0.000 0.000 T . . . 0.849 0.175 9.763 0.949 0.251 0.201 0.207 N c -0.829 -0.924 0.002 0.091 0.732 0.924 0 0.193 0.144 -0.537 0.062 0.801 0.324 0.000 0.063 0.002 0.062 9.938 0.405 . ENSG00000183323.8|ENSG00000197822.6|ENSG00000183323.8|ENSG00000183323.8|ENSG00000134058.6|ENSG00000183323.8|ENSG00000213830.3|ENSG00000153044.5|ENSG00000085231.9|ENSG00000253203.2|ENSG00000183323.8|ENSG00000213830.3|ENSG00000152942.14|ENSG00000085231.9|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3|ENSG00000253203.2|ENSG00000183323.8|ENSG00000183323.8|ENSG00000134056.7|ENSG00000183323.8|ENSG00000085231.9|ENSG00000213830.3|ENSG00000183323.8|ENSG00000085231.9|ENSG00000213830.3 Adipose_Subcutaneous|Artery_Aorta|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5020 0.4169 0.5184 0.5256 0.4781 0.5856 0.4836 0.5150 0.5360 0.4832 0.4109 0.5120 0.5066 0.4708 0.5819 0.4991 0.5204 het 947.72 82 5 68715310 . C T 947.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.870;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9881;MQ=58.95;MQ0=0;MQRankSum=0.699;QD=11.56;ReadPosRankSum=1.230;VQSLOD=6.3221;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,37:82:99:978,0,1214 5 70307189 70307189 G A exonic NAIP nonsynonymous SNV NAIP:NM_001346870:exon5:c.C581T:p.T194M,NAIP:NM_004536:exon5:c.C581T:p.T194M 0.0004 . 0.0029 . . . 0.0002 0 0 0.0001 0.0002 0.0004 0 0 0.0002 . 0.0002 . . rs201023314 COSM3072328;COSM3072327 1(prostate) . . . . . . . . . . . 0.005 0.632 D 1.0 0.899 D 1.0 0.971 D . . . 0.999 0.470 D 1.185 0.302 L -0.68 0.726 T -1.85 0.446 N 0.248 0.303 -0.610 0.644 T 0.398 0.750 T 0.030 0.528 D 3.898 0.525 23.5 0.995 0.671 0.071 0.130 N c -0.371 -0.626 1.000 0.747 0.554 0.246 0 1.09 0.194 -0.397 0.073 0.841 0.343 0.002 0.151 0.767 0.326 10.447 0.435 . . . 0.0003 0 0 0 0.0001 4.512e-05 0.0006 0 0 0.0003 0.0005 0 0 0 0 0.0004 0 het 735.78 68 5 70307189 . G A 735.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.608;DP=68;Dels=0.00;FS=4.951;HRun=0;HaplotypeScore=3.6379;MQ=58.80;MQ0=0;MQRankSum=0.744;QD=10.82;ReadPosRankSum=-0.273;VQSLOD=3.6790;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,29:68:99:766,0,958 5 70308251 70308251 C T exonic NAIP synonymous SNV NAIP:NM_001346870:exon4:c.G492A:p.A164A,NAIP:NM_004536:exon4:c.G492A:p.A164A 0.87 0.98 0.87 0.9 0.73 0.85 0.8021 0.9501 0.8854 0.9029 0.8167 0.7495 0.7808 0.8049 0.82 0.95 0.75 0.88 0.7 rs28409706 COSM4159964;COSM4159963 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8009 0.9531 0.8738 0.6146 0.9057 0.8274 0.7537 0.7714 0.8037 0.8339 0.9508 0.8633 0.6443 0.9102 0.8208 0.7644 0.8043 hom 3825.60 124 5 70308251 . C T 3825.60 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7502;MQ=59.81;MQ0=0;QD=30.85;VQSLOD=8.7435;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3825,304,0 5 70751818 70751818 T G exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon1:c.T114G:p.D38E 0.78 0.56 0.85 0.89 0.83 0.86 0.8247 0.6045 0.9033 0.8875 0.8123 0.8333 0.8337 0.8303 0.77 0.63 0.83 0.71 0.73 rs3748043 COSM4408387 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.247 0.156 N 1.000 0.588 P -1.485 0.005 N 2.19 0.187 T 0.95 0.015 N 0.046 0.026 -0.989 0.330 T 0.000 0.000 T . . . -0.101 0.084 1.721 0.704 0.090 0.006 0.027 N c -1.271 -1.116 1.000 0.747 0.267 0.040 1 0.309 0.150 -0.747 0.049 -0.290 0.083 0.016 0.191 0.026 0.142 0.429 0.004 . ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.8311 0.5966 0.8989 0.8913 0.8851 0.8199 0.8304 0.8430 0.8287 0.7663 0.6040 0.8723 0.8940 0.8891 0.8130 0.8225 0.8493 hom 996 32 5 70751818 . T G 996 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.13;VQSLOD=13.8999;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.25:1029,81,0 5 70800538 70800538 G A exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon16:c.G2332A:p.V778M 0.43 0.39 0.34 0.38 0.49 0.56 0.4618 0.3795 0.2736 0.3796 0.5294 0.4867 0.4644 0.5574 0.45 0.37 0.48 0.4 0.37 rs3761967 COSM3761302 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.128 0.269 T 0.426 0.389 B 0.14 0.366 B 0.036 0.018 N 1 0.090 P 2.125 0.592 M 2.58 0.134 T -0.99 0.262 N 0.029 0.010 -0.948 0.413 T 0.000 0.000 T . . . -0.546 0.053 0.169 0.865 0.160 0.022 0.064 N c -1.169 -1.301 0.008 0.115 0.732 0.924 0 -3.44 0.045 0.016 0.132 -0.831 0.030 0.000 0.063 0.000 0.016 1.310 0.019 . ENSG00000145734.14|ENSG00000205565.6|ENSG00000131844.11|ENSG00000131844.11 Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Cells_Transformed_fibroblasts 0.4562 0.3779 0.2855 0.4824 0.3754 0.5361 0.4845 0.4629 0.5558 0.4474 0.3794 0.2835 0.5199 0.3667 0.5333 0.4810 0.4846 hom 1616.44 52 5 70800538 . G A 1616.44 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.31;MQ0=0;QD=31.09;VQSLOD=8.6645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1649,132,0 5 70806649 70806649 T A exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon17:c.T3730A:p.F1244I 0.44 0.41 0.34 0.38 0.49 0.56 0.4632 0.3949 0.2742 0.3793 0.5292 0.4868 0.4644 0.5576 0.45 0.39 0.48 0.4 0.34 rs1961760 COSM1132128 1(haematopoietic_and_lymphoid_tissue);6(prostate);1(thyroid);2(large_intestine);1(thymus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.060 0.021 N 1 0.090 P -1.875 0.003 N 2.84 0.107 T 0.93 0.016 N 0.019 0.004 -0.918 0.458 T 0.000 0.000 T . . . -1.043 0.030 0.013 0.190 0.006 0.003 0.015 N c -1.792 -1.791 0.548 0.213 0.563 0.310 0 -4.49 0.032 -0.071 0.114 -1.733 0.007 0.000 0.063 0.000 0.016 3.264 0.064 . ENSG00000145734.14|ENSG00000131844.11|ENSG00000131844.11 Artery_Aorta|Brain_Cerebellum|Cells_Transformed_fibroblasts 0.4575 0.3929 0.2869 0.4823 0.3755 0.5364 0.4849 0.4626 0.5563 0.4523 0.3940 0.2825 0.5199 0.3695 0.5341 0.4816 0.4898 hom 3893.92 126 5 70806649 . T A 3893.92 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;QD=30.90;VQSLOD=9.0527;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3893,313,0 5 70806711 70806711 C G exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon17:c.C3792G:p.I1264M 0.79 0.61 0.85 0.89 0.83 0.86 0.8254 0.6279 0.9034 0.8878 0.8123 0.8329 0.8344 0.8298 0.77 0.64 0.83 0.75 0.74 rs715747 COSM4407216 1(liver) . . . . . . . . . . . 0.475 0.083 T 0.0 0.026 B 0.0 0.013 B 0.302 0.040 N 1 0.090 P -0.55 0.024 N 2.79 0.112 T 0.32 0.040 N 0.023 0.006 -1.021 0.234 T 0.000 0.000 T . . . -0.335 0.066 0.551 0.100 0.001 0.000 0.003 N c -1.425 -1.398 0.039 0.144 0.707 0.730 0 0.726 0.173 -0.648 0.054 0.101 0.200 0.000 0.063 0.005 0.090 4.537 0.114 . ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.8325 0.6237 0.8998 0.8913 0.8853 0.8201 0.8303 0.8447 0.8289 0.7735 0.6291 0.8747 0.8940 0.8883 0.8130 0.8228 0.8469 hom 4414.24 146 5 70806711 . C G 4414.24 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;QD=30.23;VQSLOD=8.5661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:146:99:4414,334,0 5 70806958 70806958 G A exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon17:c.G4039A:p.V1347M 0.82 0.72 0.87 0.88 0.83 0.85 0.8343 0.7326 0.9103 0.8811 0.8122 0.8332 0.8419 0.8301 0.8 0.74 0.83 0.84 0.76 rs6886336 COSM4407110 1(liver) . . . . . . . . . . . 0.628 0.052 T 0.001 0.067 B 0.001 0.040 B 0.004 0.010 N 1 0.090 P 0.49 0.133 N 2.96 0.096 T 0.1 0.058 N 0.008 0.000 -1.004 0.287 T 0.000 0.000 T . . . -1.513 0.017 0.003 0.179 0.005 0.010 0.038 N c -2.153 -2.262 0.997 0.355 0.707 0.730 0 -6.46 0.017 -1.746 0.019 -2.445 0.003 0.000 0.063 0.000 0.016 8.131 0.300 . ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.8394 0.7298 0.9047 0.8908 0.8781 0.8202 0.8304 0.8506 0.8290 0.8041 0.7367 0.8842 0.8940 0.8835 0.8133 0.8231 0.8513 hom 3580.89 125 5 70806958 . G A 3580.89 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.40;MQ0=0;QD=28.65;VQSLOD=7.9765;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3580,274,0 5 70809169 70809169 A G exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon19:c.A4405G:p.K1469E 0.4 0.38 0.31 0.36 0.46 0.47 0.4265 0.3698 0.2298 0.3662 0.4944 0.4549 0.4378 0.4870 0.43 0.36 0.46 0.38 0.24 rs1698063 COSM3761304 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.266 0.162 T 0.001 0.273 B 0.002 0.223 B 0.916 0.085 N 1 0.090 P 0.69 0.170 N 3.01 0.091 T 0.39 0.035 N 0.033 0.013 -0.922 0.453 T 0.000 0.000 T . . . 0.218 0.115 4.872 0.693 0.087 0.002 0.009 N c -1.106 -1.110 0.003 0.097 0.563 0.310 0 2.1 0.261 1.010 0.293 -0.574 0.046 0.001 0.137 0.032 0.149 4.048 0.092 . ENSG00000145734.14|ENSG00000131844.11|ENSG00000131844.11 Artery_Aorta|Brain_Cerebellum|Cells_Transformed_fibroblasts 0.4213 0.3667 0.2429 0.4563 0.3605 0.5 0.4542 0.4360 0.4864 0.4203 0.3653 0.2482 0.4934 0.3473 0.4893 0.4509 0.4524 hom 5989.87 210 5 70809169 . A G 5989.87 Mask AC=2;AF=1.00;AN=2;DP=210;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1095;MQ=58.24;MQ0=0;QD=28.52;VQSLOD=4.9924;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,209:210:99:5988,490,0 5 70837295 70837295 A C exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon29:c.A6037C:p.I2013L 0.82 0.72 0.87 0.89 0.83 0.86 0.8353 0.7335 0.9105 0.8877 0.8123 0.8330 0.8438 0.8334 0.8 0.74 0.83 0.83 0.74 rs6453014 COSM4408394 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.290 N 1 0.090 P -1.795 0.003 N 3.35 0.060 T 0.89 0.016 N 0.091 0.362 -1.030 0.205 T 0.000 0.000 T . . . -0.842 0.038 0.035 0.716 0.094 0.019 0.057 N c -1.368 -1.165 0.257 0.187 0.732 0.924 0 2.57 0.298 0.423 0.209 -0.355 0.069 0.990 0.367 0.303 0.238 3.357 0.067 . ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.8400 0.7296 0.9086 0.8918 0.8860 0.8208 0.8313 0.8517 0.8327 0.8042 0.7362 0.8825 0.8933 0.8888 0.8155 0.8240 0.8498 hom 5082.77 163 5 70837295 . A C 5082.77 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.389;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5738;MQ=58.22;MQ0=0;MQRankSum=1.888;QD=31.18;ReadPosRankSum=0.933;VQSLOD=6.8678;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,161:163:99:5082,403,0 5 70840233 70840233 C T exonic BDP1 synonymous SNV BDP1:NM_018429:exon31:c.C6462T:p.L2154L 0.4 0.38 0.31 0.36 0.46 0.47 0.4266 0.3700 0.2296 0.3658 0.4950 0.4550 0.4388 0.4870 0.43 0.36 0.46 0.38 0.34 rs182190 COSM3761305 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4220 0.3672 0.2439 0.4578 0.3617 0.5005 0.4546 0.4374 0.4870 0.4221 0.3671 0.2506 0.4934 0.3488 0.4868 0.4528 0.4571 hom 4926.09 159 5 70840233 . C T 4926.09 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.98;VQSLOD=13.6900;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4926,379,0 5 70849021 70849021 G T exonic BDP1 synonymous SNV BDP1:NM_018429:exon35:c.G7074T:p.P2358P 0.43 0.39 0.34 0.38 0.49 0.56 0.4620 0.3802 0.2743 0.3796 0.5300 0.4867 0.4644 0.5573 0.45 0.37 0.48 0.4 0.32 rs469039 COSM3761306 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4561 0.3781 0.2861 0.4825 0.3753 0.5360 0.4844 0.4631 0.5559 0.4477 0.3800 0.2835 0.5167 0.3658 0.5333 0.4811 0.4867 hom 1703.68 54 5 70849021 . G T 1703.68 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.52;MQ0=0;QD=31.55;VQSLOD=8.5809;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1737,135,0 5 70945075 70945075 A G exonic MCCC2 synonymous SNV MCCC2:NM_022132:exon14:c.A1368G:p.A456A 0.85 0.68 0.87 0.98 0.85 0.94 0.8781 0.7010 0.9255 0.9838 0.8900 0.8696 0.8866 0.9298 0.81 0.71 0.87 0.81 0.87 rs10064079 COSM4407210 1(liver) Benign|Benign not_specified|3-MCC_Deficiency RCV000082093.5|RCV000333305.1 MedGen|MedGen CN169374|CN239165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8845 0.6994 0.9201 0.9103 0.9861 0.8960 0.8666 0.8852 0.9291 0.8332 0.7095 0.9045 0.9040 0.9864 0.8907 0.8663 0.8847 hom 3952.53 131 5 70945075 . A G 3952.53 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5317;MQ=58.72;MQ0=0;QD=30.17;VQSLOD=8.7227;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:3952,310,0 5 71492734 71492734 C T exonic MAP1B synonymous SNV MAP1B:NM_001324255:exon4:c.C3174T:p.N1058N,MAP1B:NM_005909:exon5:c.C3552T:p.N1184N 0.075 0.12 0.039 0.032 0.076 0.091 0.0824 0.1119 0.0408 0.0410 0.0795 0.0847 0.1046 0.1051 0.093 0.11 0.084 0.087 0.12 rs7716079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0796 0.1100 0.0424 0.0938 0.0430 0.0813 0.0845 0.0713 0.1032 0.0820 0.0973 0.0382 0.1033 0.0574 0.0847 0.0776 0.0733 het 1097.06 95 5 71492734 . C T 1097.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.656;DP=95;Dels=0.00;FS=6.638;HRun=0;HaplotypeScore=2.9948;MQ=59.21;MQ0=0;MQRankSum=0.213;QD=11.55;ReadPosRankSum=-0.410;VQSLOD=5.2032;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,43:95:99:1127,0,1254 5 71494906 71494906 G A exonic MAP1B synonymous SNV MAP1B:NM_001324255:exon4:c.G5346A:p.K1782K,MAP1B:NM_005909:exon5:c.G5724A:p.K1908K 0.082 0.1 0.046 0.032 0.12 0.097 0.1066 0.1106 0.0554 0.0414 0.1066 0.1223 0.1289 0.1101 0.12 0.11 0.12 0.087 0.11 rs61734262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1041 0.1073 0.0573 0.1776 0.0432 0.1075 0.1183 0.1110 0.1090 0.1015 0.0961 0.0561 0.1689 0.0569 0.1131 0.1075 0.1071 het 1237.48 92 5 71494906 . G A 1237.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.187;DP=92;Dels=0.00;FS=4.046;HRun=2;HaplotypeScore=10.7713;MQ=59.45;MQ0=0;MQRankSum=-0.695;QD=13.45;ReadPosRankSum=-0.250;VQSLOD=3.6037;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:46,45:92:99:1267,0,1329 5 71739602 71739602 G C exonic ZNF366 nonsynonymous SNV ZNF366:NM_152625:exon5:c.C2216G:p.A739G 0.072 0.06 0.039 0.071 0.096 0.089 0.0932 0.0681 0.0437 0.0806 0.0779 0.1097 0.0947 0.0888 0.091 0.059 0.11 0.043 0.12 rs13188519 COSM5904818 1(skin) . . . . . . . . . . . 0.014 0.531 D 0.546 0.361 P 0.141 0.320 B 0.001 0.414 D 0.539 0.320 D 1.935 0.520 L 2.89 0.102 T -0.87 0.236 N 0.093 0.092 -1.089 0.057 T 0.001 0.002 T . . . 4.340 0.581 24.0 0.996 0.750 0.972 0.730 D c 0.283 0.439 1.000 0.747 0.554 0.283 0 5.87 0.942 4.356 0.590 0.137 0.221 1.000 0.715 0.997 0.653 16.112 0.810 . . . 0.0897 0.0657 0.0438 0.1108 0.0770 0.0771 0.1096 0.0914 0.0882 0.0855 0.0641 0.0480 0.1093 0.0993 0.0853 0.0964 0.1100 hom 1227.64 44 5 71739602 . G C 1227.64 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.74;MQ0=0;QD=27.90;VQSLOD=8.1628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:93.30:1261,93,0 5 71756102 71756102 G A exonic ZNF366 synonymous SNV ZNF366:NM_152625:exon2:c.C1222T:p.L408L 0.53 0.5 0.41 0.86 0.34 0.5 0.4100 0.5043 0.4542 0.8534 0.3226 0.3248 0.4425 0.4644 0.39 0.51 0.33 0.45 0.38 rs7721922 COSM1178497 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4108 0.5071 0.4459 0.3522 0.8550 0.3251 0.3265 0.4077 0.4629 0.4102 0.5106 0.4498 0.3179 0.8399 0.3199 0.3296 0.3574 het 1280.70 94 5 71756102 . G A 1280.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.542;DP=94;Dels=0.00;FS=5.584;HRun=1;HaplotypeScore=1.6553;MQ=59.26;MQ0=0;MQRankSum=0.616;QD=13.62;ReadPosRankSum=-1.327;VQSLOD=5.5620;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,48:94:99:1311,0,1256 5 71756896 71756896 T C exonic ZNF366 nonsynonymous SNV ZNF366:NM_152625:exon2:c.A428G:p.E143G 0.006 . 0.0029 . 0.018 0.01 0.0118 0.0037 0.0035 0.0001 0.0129 0.0160 0.0121 0.0110 0.013 0.0039 0.017 . 0.041 rs143061545 . . . . . . . . . . . . . 0.002 0.721 D 0.016 0.161 B 0.007 0.121 B 0.000 0.629 D 0.974 0.391 D 2.32 0.666 M 0.89 0.456 T -2.29 0.510 N 0.096 0.097 -1.081 0.072 T 0.041 0.178 T . . . 3.657 0.497 23.2 0.998 0.924 0.901 0.507 D c -0.305 -0.151 1.000 0.747 0.554 0.283 0 4.75 0.598 1.865 0.389 0.033 0.151 0.989 0.365 0.254 0.228 12.286 0.539 . . . 0.0118 0.0026 0.0034 0.0087 0 0.0137 0.0175 0.0097 0.0112 0.0110 0.0039 0.0024 0.0033 0 0.0152 0.0156 0.0163 het 2837.83 250 5 71756896 . T C 2837.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.514;DP=250;DS;Dels=0.00;FS=3.691;HRun=2;HaplotypeScore=7.0729;MQ=59.37;MQ0=0;MQRankSum=0.892;QD=11.35;ReadPosRankSum=1.079;VQSLOD=2.9750;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:139,111:250:99:2868,0,3571 5 72184098 72184098 C T exonic TNPO1 synonymous SNV TNPO1:NM_002270:exon13:c.C1497T:p.D499D,TNPO1:NM_153188:exon13:c.C1473T:p.D491D 0.8 0.74 0.84 0.86 0.87 0.74 0.8318 0.7596 0.8144 0.8460 0.8684 0.8614 0.8146 0.7486 0.82 0.75 0.85 0.81 0.78 rs17606 COSM4407621 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8312 0.7539 0.8178 0.8132 0.8432 0.8699 0.8608 0.8406 0.7465 0.8295 0.7528 0.8325 0.8113 0.8470 0.8711 0.8613 0.8480 hom 4569.34 150 5 72184098 . C T 4569.34 Mask AC=2;AF=1.00;AN=2;DP=150;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7480;MQ=59.44;MQ0=0;QD=30.46;VQSLOD=8.5876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4568,376,0 5 72348272 72348272 A G exonic FCHO2 nonsynonymous SNV FCHO2:NM_001146032:exon12:c.A1012G:p.M338V,FCHO2:NM_138782:exon13:c.A1111G:p.M371V 0.26 0.46 0.17 0.17 0.13 0.27 0.2482 0.4490 0.2911 0.2502 0.1766 0.1960 0.2536 0.2997 0.23 0.41 0.15 0.22 . rs185435 . . . . . . . . . . . . . 0.304 0.144 T 0.002 0.163 B 0.004 0.121 B 0.121 0.190 N 0.998 0.226 P 0.93 0.236 L 2.33 0.165 T -0.09 0.085 N 0.076 0.072 -0.906 0.473 T 0.000 0.000 T . . . 0.161 0.109 4.260 0.583 0.058 0.177 0.198 N c -0.868 -0.800 0.000 0.029 0.732 0.924 0 -1.4 0.085 0.688 0.249 -0.114 0.115 0.250 0.246 0.990 0.544 6.281 0.201 . ENSG00000157107.9|ENSG00000157107.9|ENSG00000157107.9 Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.1850 0.4142 0.1898 0.2124 0.2022 0.1294 0.1388 0.1662 0.2633 0.2252 0.4238 0.1859 0.2053 0.2059 0.1297 0.1412 0.1585 het 151.23 19 5 72348272 . A G 151.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.479;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.01;MQ0=0;MQRankSum=1.817;QD=7.96;ReadPosRankSum=-1.733;VQSLOD=5.0546;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,7:19:99:181,0,313 5 72419267 72419267 T C exonic TMEM171 nonsynonymous SNV TMEM171:NM_001161342:exon2:c.T67C:p.F23L,TMEM171:NM_173490:exon2:c.T67C:p.F23L 0.17 0.086 0.35 0.096 0.29 0.11 0.2496 0.1102 0.3867 0.0900 0.2589 0.2919 0.2522 0.1493 0.23 0.12 0.28 0.18 0.19 rs638333 COSM4003581;COSM4999932 1(breast);1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.05 0.518 D 0.087 0.234 B 0.027 0.198 B 0.000 0.559 N 0.004 0.432 P 2.65 0.778 M 1.38 0.340 T -4.35 0.769 D 0.163 0.207 -1.029 0.208 T 0.000 0.000 T . . . 5.587 0.760 26.5 0.999 0.953 0.872 0.464 D c 0.079 0.187 1.000 0.747 0.507 0.198 0 5.09 0.685 5.395 0.658 0.986 0.600 1.000 0.715 0.997 0.653 14.870 0.700 . ENSG00000157107.9|ENSG00000157111.8|ENSG00000157111.8|ENSG00000157111.8 Adipose_Subcutaneous|Brain_Caudate_basal_ganglia|Brain_Hippocampus|Colon_Transverse 0.2570 0.1106 0.3845 0.2596 0.0871 0.2602 0.2925 0.2717 0.1508 0.2144 0.1105 0.3672 0.2285 0.0858 0.2590 0.2657 0.2755 het 1728.33 152 5 72419267 . T C 1728.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.882;DP=152;Dels=0.00;FS=2.926;HRun=1;HaplotypeScore=4.5391;MQ=59.33;MQ0=0;MQRankSum=0.998;QD=11.37;ReadPosRankSum=-2.545;VQSLOD=4.5146;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,67:152:99:1758,0,2426 5 72419410 72419410 A G exonic TMEM171 synonymous SNV TMEM171:NM_001161342:exon2:c.A210G:p.G70G,TMEM171:NM_173490:exon2:c.A210G:p.G70G 1. 1. 1. 1. 1. 1. 0.9997 0.9998 0.9999 1 1 0.9995 1 1 1. 1. 1. 1. 0.98 rs7731777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9998 1.0000 1 1 1 0.9994 0.9996 1 0.9996 0.9999 0.9976 1 1 1 0.9994 1 hom 3011.32 88 5 72419410 . A G 3011.32 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8533;MQ=59.48;MQ0=0;QD=34.22;VQSLOD=8.5117;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:3044,244,0 5 72419617 72419617 C A exonic TMEM171 nonsynonymous SNV TMEM171:NM_001161342:exon2:c.C417A:p.N139K,TMEM171:NM_173490:exon2:c.C417A:p.N139K 0.45 0.57 0.33 0.59 0.27 0.41 0.3235 0.5324 0.3161 0.5970 0.2536 0.2507 0.2965 0.3773 0.34 0.53 0.25 0.39 0.3 rs636926 COSM4159974 1(thyroid) . . . . . . . . . . . 0.159 0.238 T 0.02 0.170 B 0.023 0.188 B 0.107 0.196 N 1.000 0.203 P 0.345 0.112 N 1.98 0.219 T -1.61 0.387 N 0.012 0.001 -0.956 0.400 T 0.000 0.000 T . . . 0.966 0.186 10.47 0.955 0.266 0.091 0.147 N c -1.013 -0.933 1.000 0.517 0.653 0.482 0 1.2 0.201 0.327 0.193 -0.319 0.077 0.070 0.219 0.031 0.148 2.939 0.054 . ENSG00000157107.9 Nerve_Tibial 0.3193 0.5392 0.3140 0.2617 0.5944 0.2596 0.2509 0.2802 0.3775 0.3587 0.5229 0.3222 0.2417 0.5788 0.2636 0.2704 0.2953 het 2229.32 182 5 72419617 . C A 2229.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.900;DP=182;Dels=0.00;FS=1.163;HRun=2;HaplotypeScore=9.3048;MQ=58.91;MQ0=0;MQRankSum=2.760;QD=12.25;ReadPosRankSum=0.888;VQSLOD=3.6512;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,82:182:99:2259,0,2683 5 72427404 72427404 C G exonic TMEM171 nonsynonymous SNV TMEM171:NM_001161342:exon4:c.C819G:p.D273E,TMEM171:NM_173490:exon4:c.C822G:p.D274E 0.031 0.0045 0.029 0.001 0.086 0.045 0.0649 0.0142 0.0347 0.0016 0.1030 0.0841 0.0843 0.0572 0.056 0.016 0.076 . 0.041 rs61746311 COSM4407421;COSM4407422 1(liver) . . . . . . . . . . . 0.189 0.212 T 0.002 0.090 B 0.004 0.093 B 0.487 0.121 N 1 0.090 N 1.01 0.254 L 1.79 0.255 T -2.06 0.471 N 0.033 0.013 -1.082 0.070 T 0.003 0.008 T . . . -1.315 0.022 0.004 0.628 0.069 0.010 0.036 N c -1.820 -2.008 1.000 0.747 0.706 0.609 0 -10.1 0.003 -4.261 0.003 -1.247 0.015 0.000 0.063 0.000 0.016 5.660 0.168 . . . 0.0660 0.0145 0.0390 0.1073 0.0006 0.1014 0.0831 0.0780 0.0549 0.0626 0.0163 0.0443 0.0861 0.0006 0.1022 0.0864 0.0794 het 1306.60 96 5 72427404 . C G 1306.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.452;DP=96;Dels=0.00;FS=1.662;HRun=0;HaplotypeScore=0.0000;MQ=59.76;MQ0=0;MQRankSum=-0.474;QD=13.61;ReadPosRankSum=-0.783;VQSLOD=6.1696;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,52:96:99:1337,0,1210 5 73072354 73072354 T C exonic ARHGEF28 nonsynonymous SNV ARHGEF28:NM_001080479:exon6:c.T673C:p.W225R,ARHGEF28:NM_001177693:exon6:c.T673C:p.W225R 0.37 0.34 0.37 0.32 0.46 0.38 0.4284 0.3667 0.4378 0.3234 0.4729 0.4556 0.4431 0.3842 0.42 0.36 0.45 0.33 . rs7714670 COSM450035;COSM450036 1(urinary_tract);1(large_intestine) Benign not_specified RCV000243131.1 MedGen CN169374 . . . . . . 0.883 0.026 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.795 0.003 N 3.38 0.058 T 0.51 0.029 N 0.067 0.054 -0.947 0.415 T 0.000 0.000 T . . . -1.015 0.031 0.015 0.459 0.036 0.005 0.024 N c -1.648 -1.523 0.947 0.277 0.722 0.854 0 0.823 0.179 0.243 0.177 -0.651 0.041 0.000 0.063 0.045 0.161 4.501 0.112 . . . 0.4273 0.3636 0.4246 0.3899 0.3284 0.4706 0.4585 0.4286 0.3846 0.4246 0.375 0.4296 0.3874 0.3342 0.4799 0.4494 0.4447 hom 3564.80 108 5 73072354 . T C 3564.80 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3002;MQ=59.79;MQ0=0;QD=33.01;VQSLOD=9.4421;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3564,289,0 5 73090261 73090261 T C exonic ARHGEF28 synonymous SNV ARHGEF28:NM_001080479:exon8:c.T945C:p.A315A,ARHGEF28:NM_001177693:exon8:c.T945C:p.A315A 0.61 0.82 0.53 0.53 0.51 0.58 0.6060 0.8043 0.6600 0.5815 0.5898 0.5737 0.6033 0.5891 0.6 0.79 0.52 0.53 . rs7716253 COSM3761314;COSM3761313 1(large_intestine) Benign not_specified RCV000242791.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5515 0.8002 0.5916 0.4450 0.5366 0.5505 0.5187 0.5261 0.5527 0.5965 0.7955 0.5778 0.4338 0.5337 0.5512 0.5066 0.5307 hom 642.56 24 5 73090261 . T C 642.56 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.77;VQSLOD=13.8967;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:51.16:676,51,0 5 73181913 73181913 T C exonic ARHGEF28 synonymous SNV ARHGEF28:NM_001244364:exon17:c.T2355C:p.A785A,ARHGEF28:NM_001080479:exon25:c.T3294C:p.A1098A,ARHGEF28:NM_001177693:exon25:c.T3294C:p.A1098A 0.016 . 0.019 0.001 0.059 0.0092 0.0374 0.0073 0.0186 0 0.0523 0.0545 0.0497 0.0121 0.038 0.006 0.053 0.011 . rs61734875 . . Benign not_specified RCV000245569.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0390 0.0071 0.0212 0.1193 0 0.0515 0.0523 0.0427 0.0121 0.0356 0.0084 0.0251 0.1225 0 0.0592 0.0478 0.0490 het 1078.16 88 5 73181913 . T C 1078.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.986;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9526;MQ=58.81;MQ0=0;MQRankSum=0.234;QD=12.25;ReadPosRankSum=1.185;VQSLOD=5.5137;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,42:88:99:1108,0,1133 5 73207372 73207372 T A exonic ARHGEF28 nonsynonymous SNV ARHGEF28:NM_001244364:exon27:c.T3981A:p.H1327Q,ARHGEF28:NM_001080479:exon35:c.T4920A:p.H1640Q,ARHGEF28:NM_001177693:exon35:c.T4920A:p.H1640Q 0.3 0.38 0.22 0.22 0.42 0.22 0.3809 0.4015 0.2277 0.2687 0.3774 0.4468 0.3566 0.2407 0.38 0.36 0.4 0.34 . rs1478453 COSM4880437;COSM4880438 1(prostate) Benign not_specified RCV000245791.1 MedGen CN169374 . . . . . . 0.576 0.061 T 0.001 0.119 B 0.001 0.080 B 0.826 0.069 N 1 0.090 P 1.06 0.271 L 3.28 0.280 T 0.49 0.030 N 0.041 0.021 -0.932 0.439 T 0.000 0.000 T . . . -0.039 0.090 2.224 0.477 0.039 0.030 0.078 N c -1.755 -1.720 1.000 0.422 0.707 0.730 0 -1.84 0.073 -0.484 0.066 -1.999 0.005 0.001 0.137 0.547 0.279 0.851 0.011 . . . 0.3293 0.3694 0.1876 0.4805 0.2284 0.3415 0.3987 0.3455 0.2111 0.3697 0.3776 0.2172 0.4664 0.2382 0.3466 0.3914 0.3694 het 303.33 28 5 73207372 . T A 303.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.830;DP=28;Dels=0.00;FS=1.792;HRun=1;HaplotypeScore=0.9734;MQ=59.33;MQ0=0;MQRankSum=-1.091;QD=10.83;ReadPosRankSum=0.255;VQSLOD=6.0999;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,12:28:99:333,0,423 5 73930751 73930751 C T exonic ENC1 synonymous SNV ENC1:NM_001256576:exon2:c.G1341A:p.K447K,ENC1:NM_003633:exon2:c.G1560A:p.K520K,ENC1:NM_001256574:exon3:c.G1560A:p.K520K,ENC1:NM_001256575:exon3:c.G1560A:p.K520K 0.62 0.53 0.75 0.62 0.69 0.57 0.6427 0.5580 0.7674 0.6544 0.6129 0.6541 0.6512 0.5680 0.62 0.55 0.65 0.6 0.66 rs300239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6503 0.5578 0.7660 0.7323 0.6506 0.6168 0.6491 0.6647 0.5701 0.6103 0.5542 0.7566 0.7517 0.6569 0.6194 0.6243 0.6153 het 1757.58 142 5 73930751 . C T 1757.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.280;DP=142;Dels=0.00;FS=4.085;HRun=2;HaplotypeScore=8.3093;MQ=58.96;MQ0=0;MQRankSum=1.803;QD=12.38;ReadPosRankSum=-0.043;VQSLOD=4.1372;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,64:142:99:1788,0,2007 5 73931246 73931246 T C exonic ENC1 synonymous SNV ENC1:NM_001256576:exon2:c.A846G:p.S282S,ENC1:NM_003633:exon2:c.A1065G:p.S355S,ENC1:NM_001256574:exon3:c.A1065G:p.S355S,ENC1:NM_001256575:exon3:c.A1065G:p.S355S 0.75 0.86 0.82 0.62 0.81 0.65 0.7583 0.8501 0.8141 0.6580 0.7282 0.7746 0.7472 0.6608 0.8 0.84 0.78 0.77 0.78 rs442425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7599 0.8520 0.8180 0.8134 0.6531 0.7238 0.7744 0.7673 0.6655 0.7744 0.8409 0.8146 0.8344 0.6571 0.7312 0.7573 0.7377 hom 4856.31 154 5 73931246 . T C 4856.31 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.350;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9638;MQ=59.57;MQ0=0;MQRankSum=-0.427;QD=31.53;ReadPosRankSum=0.112;VQSLOD=9.5876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,153:154:99:4824,363,0 5 73981270 73981270 T C exonic HEXB nonsynonymous SNV HEXB:NM_000521:exon1:c.T185C:p.L62S 0.98 1. 0.98 1. 0.96 0.96 0.9708 0.9923 0.9834 0.9999 0.9789 0.9620 0.9725 0.9659 0.97 0.99 0.96 0.12 0.68 rs820878 COSM450042 1(thyroid);1(large_intestine) Pathogenic\x2cBenign Sandhoff_disease\x2c_infantile_type\x2cnot_specified RCV000004086.3\x2cRCV000153357.2 MedGen\x2cMedGen C1849322\x2cCN169374 . . . . . . 1.0 0.010 T . . . . . . 0.013 0.290 N 1 0.211 P . . . -0.42 0.695 T 2.73 0.002 N 0.063 0.234 -0.909 0.469 T 0.000 0.000 T . . . -0.640 0.048 0.100 0.703 0.090 0.000 0.004 N c -0.764 -0.847 1.000 0.747 0.733 0.969 0 3.99 0.454 0.769 0.261 -0.093 0.117 0.001 0.137 0.006 0.095 8.757 0.336 Beta-hexosaminidase\x2c eukaryotic type\x2c N-terminal|Chitobiase/beta-hexosaminidase domain 2-like . . 0.9716 0.9930 0.9831 0.9722 0.9998 0.9795 0.9603 0.9690 0.9668 0.9739 0.9924 0.9833 0.9765 1 0.9813 0.9589 0.9575 hom 1131.21 36 5 73981270 . T C 1131.21 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=31.42;VQSLOD=9.1561;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:96.28:1164,96,0 5 74021847 74021852 ACTCAA - exonic GFM2 nonframeshift deletion GFM2:NM_170691:exon17:c.1685_1690del:p.F562_E563del,GFM2:NM_032380:exon18:c.1826_1831del:p.F609_E610del,GFM2:NM_001281302:exon19:c.1922_1927del:p.F641_E642del 0.38 0.76 0.34 0.2 0.24 0.24 0.2691 0.6872 0.3582 0.1899 0.1660 0.2210 0.2489 0.2219 . . . . . rs5868753 COSM5713114 1(large_intestine);4(central_nervous_system) Benign not_specified RCV000199019.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2563 0.6945 0.3438 0.2577 0.1901 0.1587 0.2119 0.2627 0.2092 0.3337 0.6702 0.3614 0.24 0.2030 0.1536 0.2054 0.2156 het 1251.75 91 5 74021846 . TACTCAA T 1251.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.091;DP=91;FS=6.160;HRun=0;HaplotypeScore=523.1682;MQ=52.79;MQ0=0;MQRankSum=-5.355;QD=13.76;ReadPosRankSum=-1.195;set=variant2 GT:AD:DP:GQ:PL 0/1:64,27:91:99:1291,0,5714 5 74046464 74046464 C T exonic GFM2 synonymous SNV GFM2:NM_032380:exon7:c.G459A:p.E153E,GFM2:NM_170681:exon7:c.G459A:p.E153E,GFM2:NM_170691:exon7:c.G459A:p.E153E,GFM2:NM_001281302:exon8:c.G555A:p.E185E 0.18 0.25 0.2 0.19 0.1 0.16 0.1320 0.2291 0.2710 0.1795 0.0531 0.0969 0.125 0.1261 0.14 0.21 0.098 0.17 0.098 rs17852781 COSM3761322 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000125232.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1313 0.2240 0.2533 0.1106 0.1812 0.0524 0.0952 0.1244 0.1205 0.1347 0.2231 0.2566 0.0695 0.1859 0.0487 0.0950 0.0949 het 1076.78 89 5 74046464 . C T 1076.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.273;DP=89;Dels=0.00;FS=7.317;HRun=1;HaplotypeScore=1.8730;MQ=59.20;MQ0=0;MQRankSum=-0.062;QD=12.10;ReadPosRankSum=-0.283;VQSLOD=4.4305;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,43:89:99:1107,0,1159 5 74069863 74069863 A G exonic NSA2 synonymous SNV NSA2:NM_014886:exon5:c.A693G:p.T231T 0.38 0.75 0.34 0.21 0.24 0.24 0.2716 0.6847 0.3588 0.2029 0.1671 0.2220 0.2528 0.2286 0.37 0.67 0.22 0.48 0.34 rs6874609 COSM3761323 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2663 0.6899 0.3549 0.2793 0.2047 0.1662 0.2202 0.2740 0.2282 0.3391 0.6773 0.3699 0.2450 0.2108 0.1552 0.2077 0.2147 het 1758.30 180 5 74069863 . A G 1758.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.235;DP=180;Dels=0.00;FS=1.919;HRun=0;HaplotypeScore=3.8433;MQ=59.32;MQ0=0;MQRankSum=0.306;QD=9.77;ReadPosRankSum=0.792;VQSLOD=6.0596;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,73:180:99:1788,0,2622 5 75427935 75427935 G A exonic SV2C synonymous SNV SV2C:NM_001297716:exon2:c.G360A:p.R120R,SV2C:NM_014979:exon2:c.G360A:p.R120R 0.47 0.26 0.45 0.32 0.74 0.66 0.6329 0.3185 0.3677 0.3253 0.6833 0.7503 0.6514 0.6694 0.63 0.35 0.76 0.39 0.64 rs10070440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6266 0.3146 0.3877 0.7355 0.3306 0.6844 0.7545 0.6553 0.6634 0.6032 0.3317 0.4330 0.7715 0.3319 0.7062 0.7671 0.6813 hom 4142.77 137 5 75427935 . G A 4142.77 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.707;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7352;MQ=59.25;MQ0=0;MQRankSum=-1.732;QD=30.24;ReadPosRankSum=0.102;VQSLOD=8.3506;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,136:137:99:4142,340,0 5 75884734 75884734 G A exonic IQGAP2 synonymous SNV IQGAP2:NM_001285460:exon5:c.G312A:p.L104L,IQGAP2:NM_006633:exon6:c.G462A:p.L154L 0.7 0.76 0.67 0.75 0.49 0.79 0.5752 0.7066 0.7080 0.7356 0.4780 0.4806 0.5551 0.7368 0.55 0.7 0.48 0.73 0.39 rs1131232 COSM4159989 1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5743 0.7105 0.6915 0.5783 0.7376 0.4811 0.4711 0.5563 0.7363 0.5561 0.7042 0.6575 0.5960 0.7658 0.4685 0.4638 0.5102 hom 2072.07 74 5 75884734 . G A 2072.07 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=58.43;MQ0=0;QD=28.00;VQSLOD=7.1796;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2105,163,0 5 75923285 75923285 C T exonic IQGAP2 synonymous SNV IQGAP2:NM_001285461:exon3:c.C231T:p.A77A,IQGAP2:NM_001285462:exon3:c.C231T:p.A77A,IQGAP2:NM_001285460:exon13:c.C1422T:p.A474A,IQGAP2:NM_006633:exon14:c.C1572T:p.A524A 0.54 0.54 0.49 0.47 0.59 0.61 0.5529 0.5392 0.4050 0.4838 0.5703 0.5764 0.5617 0.5987 0.56 0.54 0.58 0.54 0.55 rs2431351 COSM149858 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5475 0.5404 0.4182 0.6005 0.4702 0.5601 0.5768 0.5598 0.5979 0.5545 0.5402 0.4737 0.5927 0.4577 0.5651 0.5736 0.5684 het 2826.85 245 5 75923285 . C T 2826.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.487;DP=245;DS;Dels=0.00;FS=4.464;HRun=0;HaplotypeScore=5.6196;MQ=58.39;MQ0=0;MQRankSum=-0.592;QD=11.54;ReadPosRankSum=-0.387;VQSLOD=4.7401;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:134,110:245:99:2857,0,3545 5 75923294 75923294 T G exonic IQGAP2 nonsynonymous SNV IQGAP2:NM_001285461:exon3:c.T240G:p.D80E,IQGAP2:NM_001285462:exon3:c.T240G:p.D80E,IQGAP2:NM_001285460:exon13:c.T1431G:p.D477E,IQGAP2:NM_006633:exon14:c.T1581G:p.D527E 0.9 0.94 0.73 0.86 0.96 0.96 0.9132 0.9274 0.6379 0.8848 0.9209 0.9498 0.9306 0.9603 0.95 0.93 0.95 0.9 0.96 rs2431352 . . . . . . . . . . . . . 0.942 0.056 T 0.0 0.026 B 0.001 0.040 B 0.062 0.221 N 1.000 0.191 P -1.06 0.011 N 1.67 0.273 T 0.1 0.070 N 0.068 0.114 -0.964 0.384 T 0.000 0.000 T . . . -1.396 0.019 0.003 0.515 0.045 0.138 0.179 N c -1.507 -1.353 0.991 0.324 0.732 0.924 0 -1.2 0.090 0.715 0.253 -0.794 0.032 1.000 0.715 0.008 0.104 0.239 0.002 Calponin homology domain . . 0.9051 0.9293 0.6632 0.9705 0.8820 0.9229 0.9517 0.9153 0.9599 0.9276 0.9267 0.7076 0.9702 0.8722 0.9195 0.9479 0.9224 hom 7760.84 247 5 75923294 . T G 7760.84 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0818;MQ=58.12;MQ0=0;QD=31.42;VQSLOD=4.0542;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:247:99:7760,599,0 5 75923307 75923307 A G exonic IQGAP2 nonsynonymous SNV IQGAP2:NM_001285461:exon3:c.A253G:p.K85E,IQGAP2:NM_001285462:exon3:c.A253G:p.K85E,IQGAP2:NM_001285460:exon13:c.A1444G:p.K482E,IQGAP2:NM_006633:exon14:c.A1594G:p.K532E 1. 1. 1. 1. 1. 1. 0.9998 0.9998 0.9998 1 0.9998 0.9997 0.9978 1 1. 1. 1. 1. 0.97 rs2909888 . . . . . . . . . . . . . 0.631 0.088 T 0.0 0.026 B 0.001 0.040 B 0.955 0.077 N 1 0.090 P 0.02 0.080 N 1.6 0.286 T 0.4 0.036 N 0.251 0.397 -0.995 0.314 T 0.000 0.000 T . . . -1.339 0.021 0.004 0.393 0.027 0.016 0.052 N c -1.587 -1.645 0.999 0.387 0.732 0.924 0 -4.28 0.035 -0.267 0.086 -0.570 0.046 0.001 0.137 0.001 0.043 4.447 0.109 Calponin homology domain . . 0.9997 0.9997 0.9998 0.9998 1 0.9999 0.9995 0.9996 1.0000 0.9997 1 0.9976 1 1 1 0.9996 0.9990 hom 7318 244 5 75923307 . A G 7318 Mask AC=2;AF=1.00;AN=2;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6995;MQ=58.29;MQ0=0;QD=29.99;VQSLOD=8.3579;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,244:244:99:7316,593,0 5 75932869 75932869 C T exonic IQGAP2 synonymous SNV IQGAP2:NM_001285461:exon5:c.C450T:p.D150D,IQGAP2:NM_001285462:exon5:c.C450T:p.D150D,IQGAP2:NM_001285460:exon15:c.C1641T:p.D547D,IQGAP2:NM_006633:exon16:c.C1791T:p.D597D 0.55 0.54 0.49 0.47 0.61 0.62 0.5625 0.5470 0.4140 0.4857 0.5727 0.5895 0.5765 0.6022 0.58 0.55 0.59 0.54 0.57 rs2910819 COSM149859 1(stomach);1(large_intestine) . . . . . . . . . . . 0.003 0.682 D . . . . . . . . . 0.000 0.588 P . . . 1.17 0.379 T -0.72 0.204 N . . -0.934 0.436 T 0.000 0.000 T . . . 1.814 0.279 15.07 0.996 0.755 0.498 0.283 N c -0.352 -0.337 0.988 0.312 0.706 0.609 0 0.504 0.161 1.372 0.336 -0.121 0.113 1.000 0.715 0.717 0.313 6.178 0.195 . . . 0.5554 0.5470 0.4263 0.6159 0.4706 0.5623 0.5895 0.5680 0.5937 0.5631 0.5498 0.4880 0.6233 0.4588 0.5668 0.5833 0.5745 het 761.59 91 5 75932869 . C T 761.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.524;DP=91;Dels=0.00;FS=1.879;HRun=0;HaplotypeScore=4.8535;MQ=59.06;MQ0=0;MQRankSum=0.153;QD=8.37;ReadPosRankSum=0.541;VQSLOD=5.2664;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,33:91:99:792,0,1491 5 75932965 75932965 G C exonic IQGAP2 nonsynonymous SNV IQGAP2:NM_001285461:exon5:c.G546C:p.L182F,IQGAP2:NM_001285462:exon5:c.G546C:p.L182F,IQGAP2:NM_001285460:exon15:c.G1737C:p.L579F,IQGAP2:NM_006633:exon16:c.G1887C:p.L629F 0.55 0.55 0.49 0.47 0.61 0.62 0.5627 0.5568 0.4148 0.4862 0.5732 0.5893 0.5782 0.5972 0.58 0.56 0.59 0.56 0.58 rs2455230 COSM149860 1(haematopoietic_and_lymphoid_tissue);2(stomach) . . . . . . . . . . . 0.706 0.123 T 0.071 0.224 B 0.213 0.357 B 0.696 0.062 N 1 0.090 P 2.47 0.719 M 0.17 0.605 T -1.65 0.402 N 0.2 0.290 -0.909 0.470 T 0.000 0.000 T . . . -0.045 0.089 2.175 0.952 0.258 0.060 0.118 N c -1.005 -1.060 0.987 0.312 0.706 0.609 0 0.233 0.146 0.227 0.174 0.103 0.200 0.000 0.063 0.703 0.310 4.889 0.130 Calponin homology domain . . 0.5567 0.5574 0.4290 0.6171 0.4724 0.5620 0.5899 0.5704 0.5949 0.5658 0.5609 0.4857 0.6258 0.4556 0.5662 0.5830 0.5746 het 922 90 5 75932965 . G C 922 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.597;DP=90;Dels=0.00;FS=6.995;HRun=0;HaplotypeScore=0.0000;MQ=58.79;MQ0=0;MQRankSum=-0.226;QD=10.24;ReadPosRankSum=0.334;VQSLOD=4.2492;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,36:90:99:952,0,1595 5 75960865 75960865 T C exonic IQGAP2 synonymous SNV IQGAP2:NM_001285461:exon10:c.T1032C:p.H344H,IQGAP2:NM_001285462:exon10:c.T1032C:p.H344H,IQGAP2:NM_001285460:exon21:c.T2394C:p.H798H,IQGAP2:NM_006633:exon22:c.T2544C:p.H848H 0.96 0.95 0.96 0.92 0.99 0.99 0.9842 0.9618 0.9670 0.9169 0.9988 0.9955 0.9878 0.9936 0.98 0.96 1. 0.96 0.77 rs253093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9839 0.9592 0.9660 0.9999 0.9181 0.9993 0.9953 0.9876 0.9937 0.9818 0.9612 0.9749 1 0.9069 0.9991 0.9973 0.9908 hom 926.28 28 5 75960865 . T C 926.28 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.08;VQSLOD=14.2153;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:28:75.24:959,75,0 5 75967722 75967722 C T exonic IQGAP2 synonymous SNV IQGAP2:NM_001285461:exon12:c.C1470T:p.D490D,IQGAP2:NM_001285462:exon12:c.C1470T:p.D490D,IQGAP2:NM_001285460:exon23:c.C2832T:p.D944D,IQGAP2:NM_006633:exon24:c.C2982T:p.D994D 0.0026 . 0.0058 . 0.0089 . 0.0078 0.0014 0.0084 0 0.0150 0.0106 0.0100 0.0013 0.0065 0.0016 0.009 . 0.0082 rs76979655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0082 0.0010 0.0063 0.0286 0 0.0138 0.0098 0.0128 0.0016 0.0075 0.0014 0.0036 0.0430 0 0.0120 0.0102 0.0082 het 757.93 82 5 75967722 . C T 757.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.003;DP=82;Dels=0.00;FS=5.931;HRun=0;HaplotypeScore=3.8814;MQ=58.93;MQ0=0;MQRankSum=1.214;QD=9.24;ReadPosRankSum=0.784;VQSLOD=4.0036;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,31:82:99:788,0,1230 5 75996909 75996909 G A exonic IQGAP2 nonsynonymous SNV IQGAP2:NM_001285461:exon22:c.G2864A:p.R955Q,IQGAP2:NM_001285462:exon22:c.G2864A:p.R955Q,IQGAP2:NM_001285460:exon33:c.G4226A:p.R1409Q,IQGAP2:NM_006633:exon34:c.G4376A:p.R1459Q 0.014 0.0008 0.023 . 0.045 0.0082 0.0259 0.0062 0.0133 0 0.0415 0.0371 0.0254 0.0093 0.031 0.0084 0.043 0.011 0.016 rs34592828 . . . . . . . . . . . . . 0.063 0.531 T 0.119 0.419 B 0.034 0.400 B 0.000 0.454 D 1 0.810 D 2.42 0.702 M 0.96 0.429 T -1.8 0.448 N 0.307 0.669 -0.979 0.352 T 0.041 0.174 T . . . 5.589 0.761 26.5 0.999 0.996 0.932 0.574 D c 0.279 0.352 1.000 0.747 0.706 0.609 0 4.58 0.559 7.585 0.817 1.048 0.713 1.000 0.715 0.766 0.326 15.147 0.722 Ras GTPase-activating protein|Rho GTPase activation protein;RasGAP protein\x2c C-terminal . . 0.0253 0.0056 0.0139 0.0260 0 0.0395 0.0370 0.0255 0.0086 0.0258 0.0085 0.0132 0.0232 0 0.0375 0.0363 0.0316 het 848.42 62 5 75996909 . G A 848.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.458;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.03;MQ0=0;MQRankSum=-0.275;QD=13.68;ReadPosRankSum=-0.740;VQSLOD=6.4053;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,32:62:99:878,0,741 5 76128521 76128521 G A exonic F2RL1 nonsynonymous SNV F2RL1:NM_005242:exon2:c.G89A:p.S30N 0.97 1. 1. 0.83 1. 0.99 0.9869 0.9989 0.9997 0.8259 1 0.9999 0.9922 0.9972 1. 1. 1. 0.97 1. rs616235 COSM4159992 1(thyroid) . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.007 0.011 N 1 0.090 P . . . -0.6 0.717 T 0.44 0.033 N 0.016 0.006 -0.922 0.454 T 0.000 0.000 T . . . -1.451 0.018 0.003 0.376 0.025 0.029 0.075 N c -1.293 -1.452 1.000 0.747 0.706 0.609 0 -5.18 0.026 -1.283 0.029 -0.532 0.049 0.000 0.063 0.001 0.043 13.263 0.594 . . . 0.9867 0.9993 0.9997 0.9999 0.8231 0.9997 0.9999 0.9948 0.9972 0.9904 0.9990 0.9988 1 0.8253 0.9997 0.9999 0.9980 hom 4300.57 139 5 76128521 . G A 4300.57 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=30.94;VQSLOD=9.2084;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4300,337,0 5 76129053 76129053 T C exonic F2RL1 synonymous SNV F2RL1:NM_005242:exon2:c.T621C:p.I207I 0.88 1. 0.95 0.53 0.96 0.95 0.9225 0.9894 0.9230 0.5168 0.9365 0.9556 0.9295 0.9521 0.97 0.99 0.95 0.88 0.96 rs631465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9207 0.9891 0.9267 0.9807 0.5127 0.9363 0.9543 0.9412 0.9527 0.9372 0.9878 0.9356 0.9636 0.5025 0.9365 0.9534 0.9469 hom 6134.12 180 5 76129053 . T C 6134.12 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.3885;MQ=59.15;MQ0=0;QD=34.08;VQSLOD=9.5764;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:6133,487,0 5 76171252 76171252 A C exonic S100Z nonsynonymous SNV S100Z:NM_130772:exon3:c.A68C:p.E23A 0.55 0.57 0.66 0.56 0.7 0.29 0.6166 0.5738 0.6759 0.5687 0.6681 0.6788 0.6311 0.3523 0.64 0.57 0.68 0.59 0.75 rs1320308 COSM4416058 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.017 0.512 D 1.0 0.899 D 0.986 0.754 D 0.000 0.843 D 0.000 0.537 P . . . 2.7 0.122 T -5.3 0.844 D 0.105 0.134 -1.003 0.290 T 0.000 0.000 T . . . 3.540 0.483 23.1 0.996 0.732 0.975 0.747 D c 0.519 0.477 1.000 0.747 0.646 0.440 1 5.58 0.843 5.915 0.695 1.199 0.960 1.000 0.715 0.879 0.368 15.418 0.746 EF-hand domain pair|S100/CaBP-9k-type\x2c calcium binding\x2c subdomain ENSG00000145708.6|ENSG00000145708.6|ENSG00000145708.6|ENSG00000145708.6 Adrenal_Gland|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.6205 0.5710 0.6783 0.6282 0.5626 0.6773 0.6805 0.6340 0.3507 0.6455 0.5682 0.6902 0.6623 0.5677 0.6885 0.6871 0.6258 het 1967.17 126 5 76171252 . A C 1967.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.380;DP=126;Dels=0.00;FS=8.473;HRun=0;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=0.689;QD=15.61;ReadPosRankSum=0.860;VQSLOD=4.1134;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,67:126:99:1997,0,1533 5 76343999 76343999 T C exonic AGGF1 synonymous SNV AGGF1:NM_018046:exon7:c.T1215C:p.I405I 0.22 0.24 0.23 0.16 0.24 0.24 0.2387 0.2256 0.2899 0.1525 0.1922 0.2470 0.1894 0.2443 0.25 0.22 0.26 0.22 0.34 rs13155212 COSM4003592 2(haematopoietic_and_lymphoid_tissue);1(liver);1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2414 0.2260 0.2829 0.2311 0.1554 0.1932 0.2539 0.2381 0.2457 0.2382 0.2235 0.2924 0.2416 0.1479 0.1936 0.2648 0.2224 het 1553.76 137 5 76343999 . T C 1553.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.938;DP=137;Dels=0.00;FS=1.578;HRun=0;HaplotypeScore=6.4927;MQ=59.11;MQ0=0;MQRankSum=0.416;QD=11.34;ReadPosRankSum=0.477;VQSLOD=5.0804;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:78,58:137:99:1584,0,2079 5 76704849 76704849 T C exonic PDE8B synonymous SNV PDE8B:NM_001029851:exon11:c.T1206C:p.P402P,PDE8B:NM_001029853:exon13:c.T1437C:p.P479P,PDE8B:NM_001029854:exon13:c.T1356C:p.P452P,PDE8B:NM_001349748:exon14:c.T1494C:p.P498P,PDE8B:NM_001349751:exon14:c.T1494C:p.P498P,PDE8B:NM_001349752:exon14:c.T1191C:p.P397P,PDE8B:NM_003719:exon14:c.T1497C:p.P499P,PDE8B:NM_001349749:exon15:c.T1560C:p.P520P,PDE8B:NM_001349750:exon15:c.T1257C:p.P419P,PDE8B:NM_001349753:exon15:c.T1125C:p.P375P . . . . . . 1 1 1 1 1 1 1 1 . . . 1. 1. rs186753 COSM4595169 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2088.95 64 5 76704849 . T C 2088.95 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;QD=32.64;VQSLOD=8.6825;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2122,163,0 5 76708987 76708987 A G exonic PDE8B synonymous SNV PDE8B:NM_001029851:exon14:c.A1473G:p.E491E,PDE8B:NM_001029852:exon16:c.A1599G:p.E533E,PDE8B:NM_001029853:exon16:c.A1704G:p.E568E,PDE8B:NM_001029854:exon16:c.A1623G:p.E541E,PDE8B:NM_001349748:exon17:c.A1761G:p.E587E,PDE8B:NM_001349751:exon17:c.A1761G:p.E587E,PDE8B:NM_001349752:exon17:c.A1458G:p.E486E,PDE8B:NM_003719:exon17:c.A1764G:p.E588E,PDE8B:NM_001349749:exon18:c.A1827G:p.E609E,PDE8B:NM_001349750:exon18:c.A1524G:p.E508E,PDE8B:NM_001349753:exon18:c.A1392G:p.E464E 0.77 0.82 0.73 0.82 0.67 0.76 0.7031 0.7962 0.7340 0.8201 0.7226 0.6583 0.7026 0.7350 0.7 0.79 0.65 0.8 0.61 rs335614 COSM4159993 1(liver);1(thyroid) Benign Striatal_Degeneration RCV000287477.1 MedGen CN239279 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7000 0.7957 0.7290 0.6597 0.8229 0.7211 0.6498 0.7013 0.7310 0.7164 0.7911 0.7201 0.5993 0.8212 0.7215 0.6670 0.6499 hom 6902.66 222 5 76708987 . A G 6902.66 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.716;DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5061;MQ=58.90;MQ0=0;MQRankSum=1.685;QD=31.09;ReadPosRankSum=1.544;VQSLOD=7.5650;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,221:222:99:6902,527,0 5 76734084 76734084 C T exonic WDR41 nonsynonymous SNV WDR41:NM_018268:exon10:c.G985A:p.V329I 0.53 0.64 0.61 0.46 0.42 0.51 0.4881 0.5938 0.6807 0.4615 0.4463 0.4468 0.4438 0.4865 0.5 0.59 0.45 0.53 0.47 rs33204 COSM3761327 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.003 0.349 N 1 0.090 P -0.24 0.039 N 0.14 0.609 T 0.1 0.075 N 0.026 0.250 -0.911 0.468 T 0.000 0.000 T . . . -0.090 0.085 1.803 0.234 0.010 0.051 0.108 N c -1.258 -1.183 0.838 0.248 0.732 0.924 0 -2.41 0.061 1.035 0.296 -0.691 0.038 1.000 0.715 0.588 0.286 12.808 0.568 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000164253.8 Pituitary 0.4957 0.5966 0.6689 0.6240 0.4613 0.4446 0.4386 0.4850 0.4810 0.4855 0.5932 0.6367 0.6567 0.4689 0.4444 0.4226 0.4837 het 2963.88 239 5 76734084 . C T 2963.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.590;DP=239;DS;Dels=0.00;FS=0.486;HRun=0;HaplotypeScore=1.9459;MQ=58.82;MQ0=0;MQRankSum=-0.673;QD=12.40;ReadPosRankSum=-0.718;VQSLOD=6.2560;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:124,115:239:99:2994,0,3066 5 76926578 76926578 T C exonic OTP synonymous SNV OTP:NM_032109:exon3:c.A489G:p.K163K 0.99 1. 0.99 1. 0.98 0.99 0.9852 0.9970 0.9936 1 0.9728 0.9795 0.9744 0.9928 0.99 1. 0.98 0.98 0.69 rs13357072 COSM3761328 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9864 0.9975 0.9934 0.9928 0.9999 0.9714 0.9798 0.9851 0.9928 0.9854 0.9957 0.9940 0.9967 1 0.9731 0.9799 0.9878 hom 832.03 30 5 76926578 . T C 832.03 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.94;MQ0=0;QD=27.73;VQSLOD=7.5400;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:66.21:865,66,0 5 77425028 77425028 A T exonic AP3B1 nonsynonymous SNV AP3B1:NM_001271769:exon16:c.T1607A:p.V536E,AP3B1:NM_003664:exon16:c.T1754A:p.V585E . . . . . . 0.8628 0.9500 0.8407 0.4310 0.8920 0.9220 0.8678 0.7984 0.93 0.95 0.92 0.88 0.88 rs6453373 . . Benign|Benign not_specified|Hermansky-Pudlak_syndrome RCV000150163.2|RCV000324616.1 MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.940 0.268 P 0 0.065 N 2.7 0.122 T 4.67 0.000 N 0.189 0.376 -0.939 0.428 T 0.000 0.000 T . . . 1.032 0.193 10.84 0.829 0.139 0.257 0.225 N c -0.536 -0.272 0.960 0.284 0.706 0.609 0 5.41 0.782 6.286 0.725 0.152 0.238 1.000 0.715 0.998 0.697 11.854 0.515 Armadillo-like helical|Armadillo-type fold;Armadillo-like helical|Armadillo-type fold|Clathrin/coatomer adaptor\x2c adaptin-like\x2c N-terminal . . 0.8620 0.9549 0.8476 0.9078 0.4283 0.8908 0.9271 0.8851 0.7990 0.9047 0.9517 0.8819 0.9272 0.4318 0.8918 0.9321 0.9049 hom 1607.68 49 5 77425028 . A T 1607.68 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.6828;MQ=59.05;MQ0=0;QD=32.81;VQSLOD=9.7331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1641,129,0 5 77745853 77745853 - A exonic SCAMP1 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 0.9998 1 1 1 1.0000 1 1 1. 1. 1. . . rs66744502 COSN15647777;COSN15647782;COSN15647799;COSN15647796;COSN15647790;COSN15647785;COSN15647793;COSN15647789;COSN20101414;COSN15647778;COSN15647797;COSN20101411;COSN20101412;COSN15647788;COSN15647784;COSN20101415;COSN15647781;COSN15647787;COSN20101410;COSN15647779;COSN15647792;COSN15647791;COSN15647794;COSN15647780;COSN15647798;COSN15647795;COSN20101413;COSN15647783;COSN15647786 23(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1 1 1.0000 1.0000 0.9999 1 1 1 1 1 1 hom 4474.31 108 5 77745853 . C CA 4474.31 Mask AC=2;AF=1.00;AN=2;DP=108;FS=0.000;HRun=1;HaplotypeScore=227.2648;MQ=60.31;MQ0=0;QD=41.43;set=variant2 GT:AD:DP:GQ:PL 1/1:3,105:108:99:4474,307,0 5 77784738 77784738 A G exonic LHFPL2 synonymous SNV LHFPL2:NM_005779:exon5:c.T669C:p.N223N . . . . . . 0.7285 0.8784 0.4219 0.6756 0.7513 0.7564 0.7599 0.7531 0.81 0.88 0.77 0.83 0.8 rs2241566 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7153 0.8798 0.4484 0.7447 0.6747 0.7495 0.7580 0.7291 0.7557 0.7836 0.8720 0.4940 0.7417 0.6780 0.7596 0.7683 0.7495 hom 4672.46 144 5 77784738 . A G 4672.46 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.88;MQ0=0;QD=32.45;VQSLOD=9.7324;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4672,361,0 5 78135201 78135201 C T exonic ARSB synonymous SNV ARSB:NM_000046:exon6:c.G1191A:p.P397P,ARSB:NM_198709:exon7:c.G1191A:p.P397P 0.26 0.56 0.15 0.049 0.18 0.22 0.2007 0.5154 0.1012 0.0439 0.1200 0.1904 0.2170 0.2272 0.29 0.5 0.19 0.33 0.19 rs25413 COSM3761329;COSM3761330 1(thyroid);1(large_intestine) Benign|Benign not_specified|Mucopolysaccharidosis_type_VI RCV000078001.5|RCV000372416.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0026709:253200:ORPHA583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1900 0.5213 0.1097 0.2729 0.0433 0.1194 0.1880 0.1943 0.2263 0.2574 0.4997 0.1480 0.2550 0.0507 0.1225 0.1822 0.1752 hom 3036.45 108 5 78135201 . C T 3036.45 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=59.83;MQ0=0;QD=28.12;VQSLOD=7.5778;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3069,232,0 5 78324352 78324352 A G exonic DMGDH nonsynonymous SNV DMGDH:NM_013391:exon12:c.T1936C:p.S646P 0.3 0.49 0.2 0.14 0.3 0.3 0.2798 0.4590 0.1375 0.1529 0.2726 0.2875 0.2941 0.3044 0.34 0.45 0.29 0.38 0.35 rs1805074 COSM4003597;COSM4003598 2(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign not_specified RCV000424897.1 MedGen CN169374 . . . . . . 0.167 0.231 T 0.002 0.147 B 0.023 0.188 B 0.150 0.180 N 0.999 0.217 P 1.08 0.273 L -1.65 0.826 D -2.45 0.535 N 0.081 0.074 -0.951 0.408 T 0.000 0.000 T . . . 2.075 0.310 16.69 0.990 0.491 0.148 0.184 N c -0.596 -0.485 0.055 0.150 0.487 0.133 0 2.11 0.262 0.081 0.146 0.189 0.248 0.029 0.202 0.998 0.697 1.547 0.024 GTP-binding protein TrmE/Glycine cleavage system T protein\x2c domain 1|Glycine cleavage T-protein-like\x2c N-terminal ENSG00000132840.5|ENSG00000132840.5 Adipose_Subcutaneous|Nerve_Tibial 0.2737 0.4655 0.1532 0.3262 0.1508 0.2705 0.2907 0.2836 0.3011 0.3290 0.4628 0.1746 0.2748 0.1542 0.2832 0.2946 0.2659 het 2549.08 183 5 78324352 . A G 2549.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.123;DP=183;Dels=0.00;FS=1.914;HRun=2;HaplotypeScore=3.3715;MQ=58.56;MQ0=0;MQRankSum=0.063;QD=13.93;ReadPosRankSum=1.570;VQSLOD=5.6180;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,94:183:99:2579,0,2350 5 78326750 78326750 G C exonic DMGDH nonsynonymous SNV DMGDH:NM_013391:exon10:c.C1589G:p.A530G 0.31 0.5 0.2 0.14 0.3 0.3 0.2808 0.4703 0.1379 0.1527 0.2730 0.2873 0.2947 0.3044 0.35 0.47 0.29 0.39 0.35 rs1805073 COSM4003601;COSM4003602 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000437524.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.040 B 0.000 0.843 N 0.964 0.260 P -2.2 0.001 N -1.34 0.800 T 5.18 0.000 N 0.12 0.175 -0.978 0.355 T 0.000 0.000 T . . . 1.618 0.256 13.95 0.812 0.131 0.432 0.268 N c -0.639 -0.328 1.0 0.983 0.554 0.246 0 5.86 0.939 6.094 0.709 0.014 0.141 1.000 0.715 0.973 0.468 17.248 0.869 GTP-binding protein TrmE/Glycine cleavage system T protein\x2c domain 1|Glycine cleavage T-protein-like\x2c N-terminal ENSG00000132840.5|ENSG00000132840.5 Adipose_Subcutaneous|Nerve_Tibial 0.2743 0.4769 0.1533 0.3261 0.1508 0.2703 0.2904 0.2839 0.3011 0.3333 0.4758 0.1746 0.2767 0.1530 0.2836 0.2960 0.2638 het 1118.59 102 5 78326750 . G C 1118.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.868;DP=102;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.5394;MQ=59.77;MQ0=0;MQRankSum=-0.868;QD=10.97;ReadPosRankSum=1.503;VQSLOD=3.6488;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,44:102:99:1149,0,1560 5 78328560 78328560 G A exonic DMGDH synonymous SNV DMGDH:NM_013391:exon9:c.C1467T:p.G489G 0.2 0.24 0.13 0.14 0.2 0.25 0.1888 0.2399 0.0912 0.1527 0.1805 0.1876 0.2048 0.2509 0.2 0.23 0.19 0.23 0.17 rs1805072 COSM4003603;COSM4003604 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000427724.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1848 0.2365 0.1023 0.2324 0.1501 0.1791 0.1870 0.1935 0.2477 0.1972 0.2391 0.1193 0.1788 0.1524 0.1790 0.1883 0.1728 het 4372.99 250 5 78328560 . G A 4372.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.831;DP=250;DS;Dels=0.00;FS=10.663;HRun=1;HaplotypeScore=7.4408;MQ=58.92;MQ0=0;MQRankSum=1.135;QD=17.49;ReadPosRankSum=0.415;VQSLOD=3.4322;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,136:250:99:3695,0,3174 5 78340257 78340257 C G exonic DMGDH synonymous SNV DMGDH:NM_013391:exon6:c.G864C:p.L288L 0.62 0.63 0.59 0.78 0.51 0.56 0.5614 0.5976 0.5848 0.7779 0.5380 0.5265 0.5121 0.5621 0.55 0.6 0.53 0.56 0.46 rs248385 COSM5983383;COSM5983382 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5590 0.6045 0.5827 0.4743 0.7813 0.5298 0.5240 0.5346 0.5655 0.5543 0.5895 0.5811 0.4735 0.7930 0.5206 0.5171 0.5378 het 1784.94 138 5 78340257 . C G 1784.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.551;DP=138;Dels=0.00;FS=0.653;HRun=2;HaplotypeScore=0.6651;MQ=59.63;MQ0=0;MQRankSum=-0.173;QD=12.93;ReadPosRankSum=-1.023;VQSLOD=5.8223;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,64:138:99:1815,0,2135 5 78340286 78340286 A G exonic DMGDH nonsynonymous SNV DMGDH:NM_013391:exon6:c.T835C:p.S279P 0.62 0.63 0.59 0.78 0.51 0.56 0.5614 0.5976 0.5847 0.7781 0.5383 0.5264 0.5132 0.5621 0.55 0.6 0.53 0.56 0.46 rs532964 COSM4160005;COSM4160004 1(breast);1(pancreas);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.903 0.810 P -2.715 0.000 N 1.78 0.257 T 5.89 0.000 N 0.205 0.251 -0.956 0.400 T 0.000 0.000 T . . . 1.444 0.236 13.02 0.273 0.013 0.095 0.151 N c -0.792 -0.479 1.000 0.467 0.487 0.133 0 5.29 0.743 7.960 0.873 0.076 0.183 1.000 0.715 0.855 0.357 14.534 0.674 FAD dependent oxidoreductase ENSG00000145692.10|ENSG00000145692.10|ENSG00000145692.10|ENSG00000145692.10|ENSG00000132837.10|ENSG00000132840.5|ENSG00000145692.10|ENSG00000145692.10|ENSG00000145692.10 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.5589 0.6045 0.5826 0.4742 0.7814 0.5298 0.5239 0.5349 0.5655 0.5545 0.5900 0.5811 0.4735 0.7927 0.5206 0.5174 0.5378 het 1216.11 112 5 78340286 . A G 1216.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.366;DP=112;Dels=0.00;FS=5.162;HRun=1;HaplotypeScore=3.2090;MQ=58.92;MQ0=0;MQRankSum=0.051;QD=10.86;ReadPosRankSum=0.199;VQSLOD=5.4787;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,48:112:99:1246,0,1699 5 78351636 78351636 A C exonic DMGDH synonymous SNV DMGDH:NM_013391:exon3:c.T372G:p.G124G 0.65 0.59 0.65 0.78 0.63 0.62 0.6448 0.6039 0.6291 0.7769 0.6751 0.6408 0.6135 0.6184 0.63 0.61 0.64 0.55 0.5 rs2253262 . . Benign not_specified RCV000438144.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6437 0.6055 0.6333 0.5373 0.7805 0.6674 0.6429 0.6316 0.6195 0.6402 0.6026 0.6244 0.5333 0.7930 0.6721 0.6411 0.6398 het 791.45 60 5 78351636 . A C 791.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.423;DP=60;Dels=0.00;FS=2.348;HRun=2;HaplotypeScore=1.9942;MQ=58.46;MQ0=0;MQRankSum=-1.405;QD=13.19;ReadPosRankSum=-1.864;VQSLOD=4.6671;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,31:60:99:821,0,657 5 78373431 78373431 C T exonic BHMT2 synonymous SNV BHMT2:NM_001178005:exon2:c.C162T:p.D54D,BHMT2:NM_017614:exon2:c.C162T:p.D54D 0.49 0.24 0.6 0.6 0.6 0.51 0.5679 0.2812 0.5990 0.6203 0.6717 0.6065 0.5396 0.5034 0.5 0.29 0.61 0.4 0.57 rs682985 COSM4160006 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5749 0.2809 0.6005 0.4396 0.6276 0.6638 0.6134 0.5688 0.5049 0.5266 0.2888 0.5811 0.4205 0.6453 0.6634 0.6145 0.5982 het 1777.09 152 5 78373431 . C T 1777.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.345;DP=152;Dels=0.00;FS=3.027;HRun=0;HaplotypeScore=4.6559;MQ=58.75;MQ0=0;MQRankSum=1.212;QD=11.69;ReadPosRankSum=0.162;VQSLOD=5.5154;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,75:152:99:1807,0,1876 5 78421959 78421959 G A exonic BHMT nonsynonymous SNV BHMT:NM_001713:exon6:c.G716A:p.R239Q 0.29 0.2 0.38 0.32 0.32 0.29 0.2953 0.2204 0.3841 0.3213 0.2419 0.2953 0.2826 0.2886 0.27 0.22 0.3 0.26 0.38 rs3733890 COSM4418474 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.051 0.393 T 0.78 0.423 P 0.064 0.257 B 0.070 0.216 N 1 0.090 P 1.385 0.346 L 1.57 0.293 T -0.16 0.095 N 0.066 0.052 -0.936 0.432 T 0.000 0.000 T . . . 2.891 0.408 21.8 0.996 0.755 0.218 0.213 N c -0.541 -0.474 0.080 0.158 0.615 0.372 0 3.51 0.391 2.864 0.479 1.048 0.713 0.094 0.225 0.840 0.350 4.661 0.119 Homocysteine-binding domain ENSG00000132837.10 Brain_Frontal_Cortex_BA9 0.3018 0.2191 0.3811 0.3420 0.3243 0.2388 0.2983 0.3091 0.2881 0.2688 0.2237 0.3565 0.3212 0.3561 0.2382 0.2875 0.2582 het 1108.94 91 5 78421959 . G A 1108.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.656;DP=91;Dels=0.01;FS=15.843;HRun=1;HaplotypeScore=4.5425;MQ=59.50;MQ0=0;MQRankSum=0.290;QD=12.05;ReadPosRankSum=1.602;VQSLOD=3.4033;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,43:91:99:1139,0,1199 5 78573790 78573790 A T exonic JMY nonsynonymous SNV JMY:NM_152405:exon2:c.A1090T:p.M364L 0.48 0.36 0.56 0.49 0.62 0.43 0.5465 0.3839 0.5575 0.4689 0.5688 0.6049 0.5589 0.4300 0.55 0.4 0.62 0.49 0.66 rs13182512 COSM4003606 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.185 0.215 T 0.001 0.067 B 0.002 0.063 B 0.007 0.315 N 0.910 0.275 P -0.145 0.044 N 3.23 0.070 T -0.88 0.238 N 0.058 0.041 -0.966 0.379 T 0.000 0.000 T . . . 0.238 0.117 5.076 0.565 0.054 0.639 0.320 D c -0.943 -0.850 0.001 0.085 0.651 0.465 0 -4.71 0.030 1.538 0.355 -0.149 0.108 1.000 0.715 0.998 0.697 5.503 0.160 JMY/WHAMM\x2c middle domain ENSG00000132837.10|ENSG00000132837.10|ENSG00000145692.10|ENSG00000132837.10|ENSG00000132840.5|ENSG00000145692.10|ENSG00000152409.8|ENSG00000145692.10 Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Testis|Testis 0.5520 0.3871 0.5575 0.6083 0.4704 0.5710 0.6104 0.5763 0.4252 0.5343 0.3925 0.5251 0.6060 0.4647 0.5616 0.6135 0.5902 het 1307.01 155 5 78573790 . A T 1307.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.145;DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6498;MQ=59.33;MQ0=0;MQRankSum=-0.160;QD=8.43;ReadPosRankSum=-0.477;VQSLOD=5.9718;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,53:155:99:1337,0,2677 5 78596044 78596044 T C exonic JMY synonymous SNV JMY:NM_152405:exon5:c.T1596C:p.D532D 0.68 0.94 0.58 0.63 0.62 0.51 0.6030 0.8912 0.5790 0.5935 0.5156 0.5974 0.5789 0.5126 0.7 0.88 0.61 0.73 0.66 rs10514159 COSM3761333 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5978 0.8959 0.5805 0.6448 0.5901 0.5056 0.6012 0.6046 0.5121 0.6682 0.8849 0.5538 0.6556 0.6053 0.5063 0.5974 0.6031 het 1890.50 138 5 78596044 . T C 1890.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.113;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5802;MQ=59.56;MQ0=0;MQRankSum=1.270;QD=13.70;ReadPosRankSum=-0.409;VQSLOD=6.4343;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,71:138:99:1920,0,1614 5 79361265 79361265 G C exonic THBS4 nonsynonymous SNV THBS4:NM_001306214:exon9:c.G886C:p.A296P,THBS4:NM_003248:exon9:c.G1159C:p.A387P,THBS4:NM_001306212:exon10:c.G886C:p.A296P,THBS4:NM_001306213:exon10:c.G886C:p.A296P 0.13 0.069 0.13 0.051 0.23 0.17 0.1783 0.1007 0.1017 0.0400 0.1688 0.2186 0.1949 0.1935 0.18 0.099 0.22 0.15 0.21 rs1866389 COSM4985517 7(soft_tissue) . . . . . . . . . . . 0.013 0.538 D 0.568 0.366 P 0.352 0.411 B 0.000 0.629 D 0.114 0.358 P -1.165 0.009 N -3.0 0.922 D -2.08 0.475 N 0.184 0.225 -0.903 0.477 T 0.000 0.001 T . . . 4.877 0.655 24.9 0.995 0.691 0.929 0.565 D c -0.277 -0.115 1.000 0.747 0.706 0.609 0 5.19 0.713 3.008 0.490 1.048 0.713 0.997 0.399 0.878 0.368 15.989 0.799 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain ENSG00000113296.10|ENSG00000113296.10|ENSG00000251050.1 Cells_Transformed_fibroblasts|Lung|Testis 0.1744 0.0996 0.1057 0.1811 0.0394 0.1669 0.2220 0.1888 0.1897 0.1667 0.1036 0.1244 0.2351 0.0401 0.1632 0.2164 0.2045 het 1858.95 192 5 79361265 . G C 1858.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.800;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.9198;MQ=59.16;MQ0=0;MQRankSum=0.062;QD=9.68;ReadPosRankSum=0.567;VQSLOD=4.3414;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:108,84:192:99:1889,0,2783 5 79616083 79616083 G C exonic SPZ1 nonsynonymous SNV SPZ1:NM_032567:exon1:c.G49C:p.V17L 0.79 0.86 0.67 0.94 0.63 0.8 0.7154 0.8241 0.6725 0.9525 0.6580 0.6666 0.7016 0.7782 0.72 0.83 0.67 0.81 0.67 rs1862136 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.468 0.049 N 1 0.090 P -1.355 0.007 N 0.85 0.471 T -0.67 0.193 N 0.019 0.363 -0.980 0.350 T 0.000 0.000 T . . . -1.614 0.014 0.002 0.545 0.051 0.001 0.004 N c -1.703 -1.641 0.000 0.029 0.497 0.185 0 1.24 0.203 -0.423 0.070 -0.469 0.054 0.000 0.063 0.000 0.016 4.162 0.097 . . . 0.7131 0.8257 0.6753 0.7513 0.9520 0.6541 0.6622 0.7034 0.7808 0.7192 0.8311 0.6850 0.7583 0.9568 0.6636 0.6456 0.6694 hom 8044.37 247 5 79616083 . G C 8044.37 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7286;MQ=59.30;MQ0=0;QD=32.57;VQSLOD=8.8520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,247:247:99:8044,629,0 5 79733079 79733079 T C exonic ZFYVE16 nonsynonymous SNV ZFYVE16:NM_001284237:exon3:c.T575C:p.I192T,ZFYVE16:NM_014733:exon3:c.T575C:p.I192T,ZFYVE16:NM_001105251:exon4:c.T575C:p.I192T,ZFYVE16:NM_001284236:exon4:c.T575C:p.I192T,ZFYVE16:NM_001349434:exon4:c.T575C:p.I192T 0.76 0.44 0.88 0.92 0.89 0.82 0.8639 0.4731 0.9329 0.9315 0.9142 0.9118 0.8814 0.7979 0.76 0.48 0.91 0.72 0.91 rs2544600 COSM4407126 1(liver) . . . . . . . . . . . 0.14 0.256 T 0.0 0.214 B 0.0 0.166 B 0.044 0.019 N 1 0.090 P 0.69 0.170 N 1.21 0.372 T -0.59 0.176 N 0.008 0.001 -0.985 0.338 T 0.000 0.000 T . . . -3.234 0.001 0.001 0.208 0.008 0.037 0.089 N c -1.707 -1.751 0.817 0.244 0.651 0.465 0 -6.06 0.020 -0.335 0.079 -0.273 0.086 0.000 0.063 0.679 0.305 1.210 0.018 . . . 0.8717 0.4569 0.9265 0.9277 0.9297 0.9147 0.9098 0.8807 0.7964 0.7890 0.4782 0.9069 0.9338 0.9139 0.9064 0.9127 0.8859 het 651.33 68 5 79733079 . T C 651.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.666;DP=68;Dels=0.00;FS=3.637;HRun=1;HaplotypeScore=0.7887;MQ=59.32;MQ0=0;MQRankSum=-1.256;QD=9.58;ReadPosRankSum=-0.057;VQSLOD=5.8448;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,26:68:99:681,0,1114 5 79734297 79734297 T C exonic ZFYVE16 nonsynonymous SNV ZFYVE16:NM_001284237:exon3:c.T1793C:p.I598T,ZFYVE16:NM_014733:exon3:c.T1793C:p.I598T,ZFYVE16:NM_001105251:exon4:c.T1793C:p.I598T,ZFYVE16:NM_001284236:exon4:c.T1793C:p.I598T,ZFYVE16:NM_001349434:exon4:c.T1793C:p.I598T 0.85 0.69 0.93 0.92 0.93 0.86 0.9097 0.7153 0.9592 0.9330 0.9212 0.9408 0.9237 0.8508 0.87 0.72 0.94 0.85 0.9 rs259028 COSM4408698 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.347 N 1 0.090 P -2.255 0.001 N 1.35 0.346 T 1.59 0.007 N 0.015 0.193 -0.955 0.400 T 0.000 0.000 T . . . -0.258 0.071 0.824 0.251 0.011 0.010 0.038 N c -1.021 -0.785 0.683 0.225 0.651 0.465 0 4.56 0.555 0.508 0.222 0.069 0.176 0.002 0.151 0.993 0.574 10.668 0.447 . ENSG00000039319.12|ENSG00000152380.5 Thyroid|Whole_Blood 0.9146 0.7066 0.9537 0.9463 0.9311 0.9222 0.9419 0.9198 0.8510 0.8737 0.7181 0.9510 0.9503 0.9154 0.9164 0.9405 0.9224 het 1039.67 74 5 79734297 . T C 1039.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.191;DP=74;Dels=0.00;FS=8.264;HRun=0;HaplotypeScore=1.9945;MQ=58.99;MQ0=0;MQRankSum=1.044;QD=14.05;ReadPosRankSum=-1.671;VQSLOD=4.5169;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,38:74:99:1070,0,902 5 79734409 79734409 G A exonic ZFYVE16 synonymous SNV ZFYVE16:NM_001284237:exon3:c.G1905A:p.S635S,ZFYVE16:NM_014733:exon3:c.G1905A:p.S635S,ZFYVE16:NM_001105251:exon4:c.G1905A:p.S635S,ZFYVE16:NM_001284236:exon4:c.G1905A:p.S635S,ZFYVE16:NM_001349434:exon4:c.G1905A:p.S635S 0.87 0.75 0.94 0.92 0.94 0.87 0.9218 0.7617 0.9664 0.9329 0.9260 0.9510 0.9371 0.8648 0.89 0.76 0.95 0.87 0.97 rs259029 COSM4407170 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9262 0.7542 0.9622 0.9610 0.9309 0.9272 0.9517 0.9365 0.8639 0.8930 0.7673 0.9594 0.9669 0.9155 0.9239 0.9488 0.9297 het 1629.69 107 5 79734409 . G A 1629.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.355;DP=107;Dels=0.00;FS=3.643;HRun=0;HaplotypeScore=3.9490;MQ=58.65;MQ0=0;MQRankSum=2.997;QD=15.23;ReadPosRankSum=0.066;VQSLOD=4.1515;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,60:107:99:1660,0,1242 5 79735858 79735858 A G exonic ZFYVE16 nonsynonymous SNV ZFYVE16:NM_001284237:exon4:c.A2426G:p.Y809C 0.74 0.38 0.87 0.92 0.89 0.82 0.8573 0.4250 0.9282 0.9316 0.9141 0.9109 0.8778 0.7987 0.74 0.43 0.91 0.67 0.89 rs168939 COSM4407270 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8686 0.4101 0.9235 0.9212 0.9302 0.9150 0.9096 0.8746 0.7991 0.7737 0.4265 0.9043 0.9305 0.9140 0.9057 0.9117 0.8814 het 1564.70 98 5 79735858 . A G 1564.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.291;DP=98;Dels=0.00;FS=9.348;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;MQRankSum=-0.115;QD=15.97;ReadPosRankSum=1.675;VQSLOD=4.1114;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,55:98:99:1595,0,1083 5 79745469 79745469 A G exonic ZFYVE16 nonsynonymous SNV ZFYVE16:NM_014733:exon8:c.A3163G:p.S1055G,ZFYVE16:NM_001105251:exon9:c.A3163G:p.S1055G,ZFYVE16:NM_001284236:exon9:c.A3163G:p.S1055G,ZFYVE16:NM_001349434:exon9:c.A3163G:p.S1055G 0.85 0.69 0.93 0.92 0.93 0.86 0.9092 0.7153 0.9594 0.9330 0.9212 0.9408 0.9238 0.8507 0.87 0.72 0.94 0.85 0.94 rs249038 COSM4408020 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.259 0.153 N 1.000 0.186 P -2.22 0.001 N 1.35 0.346 T 4.07 0.001 N 0.002 0.020 -0.963 0.386 T 0.000 0.000 T . . . -0.592 0.050 0.131 0.160 0.004 0.060 0.118 N c -1.053 -0.813 0.032 0.140 0.732 0.924 0 5.05 0.674 2.464 0.445 -0.234 0.093 1.000 0.715 0.022 0.137 12.569 0.555 . ENSG00000039319.12|ENSG00000152380.5 Thyroid|Whole_Blood 0.9145 0.7055 0.9537 0.9463 0.9313 0.9222 0.9418 0.9193 0.8497 0.8735 0.7184 0.9499 0.9503 0.9153 0.9164 0.9401 0.9223 het 2032.60 198 5 79745469 . A G 2032.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.257;DP=198;Dels=0.00;FS=8.343;HRun=1;HaplotypeScore=5.8415;MQ=59.15;MQ0=0;MQRankSum=2.516;QD=10.27;ReadPosRankSum=-0.010;VQSLOD=3.4737;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,83:198:99:2063,0,2893 5 79815658 79815658 T C exonic FAM151B nonsynonymous SNV FAM151B:NM_205548:exon4:c.T464C:p.I155T 0.73 0.83 0.7 0.61 0.79 0.71 0.7495 0.8224 0.6489 0.6087 0.7185 0.7846 0.7533 0.7179 0.8 0.83 0.79 0.69 0.75 rs369998 COSM5438086 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.959 0.021 T 0.0 0.026 B 0.0 0.013 B 0.001 0.397 N 1.000 0.182 P -2.52 0.001 N 2.88 0.103 T 2.88 0.002 N 0.014 0.017 -1.014 0.257 T 0.000 0.000 T . . . 1.405 0.232 12.82 0.416 0.030 0.012 0.042 N c -0.845 -0.533 0.004 0.105 0.638 0.428 0 5.76 0.907 1.173 0.313 0.008 0.138 0.659 0.280 0.992 0.562 10.351 0.429 . ENSG00000228716.2|ENSG00000113318.9|ENSG00000113318.9|ENSG00000113318.9 Adrenal_Gland|Cells_Transformed_fibroblasts|Muscle_Skeletal|Thyroid 0.7440 0.8263 0.6649 0.7895 0.6066 0.7177 0.7861 0.7464 0.7184 0.7714 0.8192 0.6782 0.7748 0.6258 0.7268 0.7767 0.7439 hom 4483.60 153 5 79815658 . T C 4483.60 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.73;MQ0=0;QD=29.30;VQSLOD=8.2760;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:4483,334,0 5 79855372 79855372 A G exonic ANKRD34B nonsynonymous SNV ANKRD34B:NM_001004441:exon5:c.T467C:p.L156S 0.94 0.99 0.92 1. 0.87 0.9 0.8916 0.9769 0.9477 0.9987 0.8981 0.8586 0.9031 0.8729 0.89 0.97 0.85 0.95 0.79 rs32857 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.065 0.219 N 1.000 0.201 P -2.24 0.001 N 2.28 0.173 T 3.26 0.001 N 0.087 0.083 -0.947 0.415 T 0.000 0.000 T . . . -0.416 0.061 0.354 0.193 0.006 0.151 0.186 N c -0.989 -0.748 0.503 0.209 0.615 0.372 0 5.82 0.927 2.734 0.468 0.136 0.221 0.891 0.310 0.032 0.149 13.929 0.633 . ENSG00000189127.3|ENSG00000228716.2 Whole_Blood|Whole_Blood 0.8918 0.9782 0.9418 0.9116 0.9986 0.8956 0.8521 0.8931 0.8686 0.9010 0.9725 0.9475 0.9106 0.9994 0.8871 0.8501 0.8880 het 3121.44 209 5 79855372 . A G 3121.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.962;DP=209;Dels=0.00;FS=7.853;HRun=0;HaplotypeScore=5.4482;MQ=59.20;MQ0=0;MQRankSum=1.439;QD=14.94;ReadPosRankSum=0.631;VQSLOD=4.5477;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,114:209:99:3151,0,2638 5 79966029 79966029 G A exonic MSH3 synonymous SNV MSH3:NM_002439:exon4:c.G693A:p.P231P 0.18 0.2 0.27 0.34 0.054 0.078 0.1263 0.1912 0.3692 0.3260 0.0700 0.0654 0.0980 0.0803 0.1 0.18 0.061 0.2 0.049 rs1805355 COSM4003614;COSM4003615 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1337 0.1903 0.3506 0.1374 0.3271 0.0701 0.0591 0.1136 0.0802 0.1261 0.1932 0.3038 0.1167 0.3223 0.0745 0.0695 0.1084 het 572.21 58 5 79966029 . G A 572.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.683;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6921;MQ=60.00;MQ0=0;MQRankSum=0.874;QD=9.87;ReadPosRankSum=-0.191;VQSLOD=6.0456;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,23:58:99:602,0,881 5 80149981 80149981 A G exonic MSH3 nonsynonymous SNV MSH3:NM_002439:exon21:c.A2846G:p.Q949R 0.9 0.9 0.87 1. 0.86 0.87 0.8731 0.8984 0.9204 0.9993 0.8746 0.8417 0.8711 0.8844 0.86 0.89 0.84 0.88 0.84 rs184967 COSM4160036 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.460 N 1.000 0.090 P -0.32 0.035 N -1.93 0.849 D 0.58 0.026 N 0.023 0.006 -0.948 0.414 T 0.000 0.000 T . . . 0.224 0.116 4.933 0.864 0.159 0.178 0.198 N c -0.780 -0.615 0.000 0.044 0.706 0.609 0 0.287 0.149 0.429 0.210 -0.231 0.094 0.880 0.307 0.991 0.552 12.456 0.549 DNA mismatch repair protein MutS\x2c C-terminal|P-loop containing nucleoside triphosphate hydrolase ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000113318.9|ENSG00000228716.2|ENSG00000189127.3|ENSG00000228716.2 Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Testis|Whole_Blood|Whole_Blood 0.8733 0.8936 0.9140 0.8304 0.9994 0.8781 0.8408 0.8375 0.8824 0.8711 0.8881 0.9189 0.8067 1 0.8713 0.8461 0.8684 hom 2054.02 73 5 80149981 . A G 2054.02 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=59.08;MQ0=0;QD=28.14;VQSLOD=7.9000;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2087,171,0 5 80168937 80168937 G A exonic MSH3 nonsynonymous SNV MSH3:NM_002439:exon23:c.G3133A:p.A1045T 0.72 0.66 0.69 0.75 0.72 0.79 0.7305 0.6733 0.7601 0.7438 0.7199 0.7176 0.7280 0.7953 0.69 0.67 0.71 0.64 0.66 rs26279 COSM4416274;COSM4416275 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.551 0.066 T 0.075 0.227 B 0.035 0.214 B 0.570 0.112 N 1 0.090 P -0.245 0.039 N -2.14 0.864 D -0.1 0.085 N 0.027 0.009 -0.949 0.412 T 0.000 0.000 T . . . 0.480 0.140 7.280 0.730 0.098 0.548 0.295 D c -1.032 -1.015 0.000 0.064 0.706 0.609 0 -2.54 0.059 1.922 0.394 -0.089 0.118 0.994 0.380 0.009 0.108 2.363 0.040 DNA mismatch repair protein MutS\x2c C-terminal|P-loop containing nucleoside triphosphate hydrolase ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000113318.9|ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2 Artery_Aorta|Artery_Tibial|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7300 0.6653 0.7578 0.7069 0.7463 0.7317 0.7145 0.6859 0.7928 0.7083 0.6658 0.7524 0.6987 0.7423 0.7239 0.7223 0.7249 hom 3337.82 115 5 80168937 . G A 3337.82 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9402;MQ=58.70;MQ0=0;QD=29.02;VQSLOD=8.6698;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3337,262,0 5 80409526 80409526 T C exonic RASGRF2 nonsynonymous SNV RASGRF2:NM_006909:exon15:c.T2257C:p.S753P 0.051 0.0098 0.066 0.011 0.073 0.12 0.0692 0.0148 0.0415 0.0102 0.0398 0.0822 0.0738 0.1125 0.06 0.019 0.081 0.054 0.066 rs34193571 COSM4406935 1(liver) . . . . . . . . . . . 0.3 0.145 T 0.002 0.090 B 0.004 0.093 B 0.005 0.334 U 0.997 0.439 D 1.1 0.281 L -0.89 0.748 T -1.32 0.330 N 0.072 0.081 -1.048 0.150 T 0.021 0.088 T . . . 1.836 0.281 15.20 0.988 0.465 0.865 0.456 D c -0.431 -0.258 0.176 0.178 0.615 0.372 0 4.15 0.478 1.980 0.400 0.084 0.191 0.447 0.263 0.998 0.697 10.755 0.452 Ras-like guanine nucleotide exchange factor\x2c N-terminal . . 0.0685 0.0141 0.0468 0.1140 0.0090 0.0414 0.0810 0.0845 0.1091 0.0541 0.0165 0.0430 0.0596 0.0068 0.0464 0.0818 0.0764 het 2028.67 137 5 80409526 . T C 2028.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.952;DP=137;Dels=0.00;FS=1.368;HRun=1;HaplotypeScore=0.9832;MQ=59.66;MQ0=0;MQRankSum=-0.062;QD=14.81;ReadPosRankSum=-0.919;VQSLOD=5.8645;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,70:137:99:2059,0,1800 5 80409729 80409729 T C exonic RASGRF2 synonymous SNV RASGRF2:NM_006909:exon15:c.T2460C:p.S820S 0.44 0.61 0.33 0.25 0.44 0.46 0.4160 0.5958 0.2534 0.2515 0.2731 0.4393 0.4165 0.4667 0.5 0.59 0.45 0.59 0.56 rs10942942 COSM1132101 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4048 0.5982 0.2671 0.5289 0.2450 0.2730 0.4433 0.4440 0.4591 0.4442 0.5958 0.3281 0.4735 0.2593 0.2901 0.4233 0.3609 het 1747.08 121 5 80409729 . T C 1747.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.231;DP=121;Dels=0.00;FS=8.537;HRun=0;HaplotypeScore=0.9665;MQ=59.64;MQ0=0;MQRankSum=1.322;QD=14.44;ReadPosRankSum=0.283;VQSLOD=4.6533;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,64:121:99:1777,0,1399 5 80604430 80604430 C T exonic ZCCHC9 synonymous SNV ZCCHC9:NM_001131035:exon3:c.C435T:p.A145A,ZCCHC9:NM_001131036:exon3:c.C435T:p.A145A,ZCCHC9:NM_032280:exon3:c.C435T:p.A145A 0.14 0.099 0.3 0.015 0.18 0.15 0.1909 0.1028 0.3636 0.0201 0.1984 0.1981 0.1905 0.1828 0.17 0.11 0.2 0.17 0.23 rs1055383 COSM4416891 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1972 0.1009 0.3507 0.1521 0.0177 0.2031 0.1994 0.1920 0.1834 0.1720 0.0982 0.3505 0.1523 0.0154 0.2034 0.2121 0.2169 het 1725.17 140 5 80604430 . C T 1725.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.030;DP=140;Dels=0.00;FS=1.336;HRun=0;HaplotypeScore=7.5841;MQ=59.30;MQ0=0;MQRankSum=0.071;QD=12.32;ReadPosRankSum=1.225;VQSLOD=3.9223;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,69:140:99:1755,0,1705 5 80736444 80736444 A G exonic SSBP2 synonymous SNV SSBP2:NM_001256733:exon13:c.T801C:p.G267G,SSBP2:NM_001256734:exon13:c.T795C:p.G265G,SSBP2:NM_001256735:exon13:c.T771C:p.G257G,SSBP2:NM_001256736:exon13:c.T771C:p.G257G,SSBP2:NM_001256732:exon14:c.T885C:p.G295G,SSBP2:NM_001345886:exon14:c.T885C:p.G295G,SSBP2:NM_012446:exon14:c.T861C:p.G287G 0.45 0.89 0.39 0.18 0.33 0.32 0.3555 0.8073 0.3475 0.1650 0.2724 0.3293 0.3263 0.3164 0.49 0.79 0.34 0.59 0.39 rs9596 COSM3761356 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3546 0.8128 0.3639 0.3778 0.1691 0.2734 0.3362 0.3560 0.3330 0.4463 0.7972 0.3580 0.3576 0.1667 0.2643 0.3291 0.3299 het 629.06 57 5 80736444 . A G 629.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.691;DP=57;Dels=0.00;FS=3.842;HRun=2;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=1.091;QD=11.04;ReadPosRankSum=0.008;VQSLOD=5.9176;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,24:57:99:659,0,783 5 81354389 81354389 T C exonic ATG10 nonsynonymous SNV ATG10:NM_031482:exon3:c.T184C:p.S62P,ATG10:NM_001131028:exon4:c.T184C:p.S62P 0.19 0.058 0.16 0.22 0.2 0.35 0.2092 0.0773 0.1316 0.2090 0.2458 0.2007 0.2192 0.3662 0.16 0.082 0.2 0.14 0.24 rs3734114 COSM4003616 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.29 0.187 T 0.005 0.235 B 0.004 0.214 B 0.038 0.243 N 1 0.090 P 1.59 0.404 L 1.51 0.456 T -0.55 0.266 N 0.055 0.071 -1.050 0.144 T 0.000 0.000 T . . . 0.130 0.106 3.933 0.953 0.260 0.032 0.080 N c -0.928 -0.962 0.695 0.226 0.706 0.609 0 0.709 0.172 0.770 0.261 0.813 0.334 0.042 0.209 0.028 0.145 1.210 0.018 . . . 0.2077 0.0744 0.1289 0.1817 0.2112 0.2412 0.2009 0.1974 0.3683 0.1677 0.0771 0.1435 0.1523 0.2118 0.2293 0.2009 0.2002 het 2465.16 213 5 81354389 . T C 2465.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.372;DP=213;Dels=0.00;FS=3.192;HRun=1;HaplotypeScore=6.1276;MQ=58.88;MQ0=0;MQRankSum=1.108;QD=11.57;ReadPosRankSum=-0.579;VQSLOD=5.0036;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,97:213:99:2495,0,2702 5 81549216 81549216 C T exonic ATG10 nonsynonymous SNV ATG10:NM_031482:exon7:c.C635T:p.T212M,ATG10:NM_001131028:exon8:c.C635T:p.T212M 0.52 0.17 0.57 0.89 0.46 0.63 0.5092 0.1943 0.6960 0.8823 0.4820 0.4602 0.4956 0.5907 0.38 0.21 0.46 0.46 0.45 rs1864183 COSM5983373 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.142 0.254 T 0.113 0.248 B 0.006 0.112 B 0.769 0.066 N 1 0.090 P 0 0.065 N 1.93 0.229 T -0.15 0.093 N 0.065 0.051 -1.013 0.259 T 0.000 0.000 T . . . 1.102 0.200 11.23 0.903 0.189 0.022 0.063 N c -0.985 -0.927 0.709 0.228 0.706 0.609 0 1.65 0.229 -0.082 0.112 0.935 0.490 0.000 0.063 0.012 0.117 5.670 0.169 . ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7 Adipose_Subcutaneous|Adrenal_Gland|Artery_Coronary|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.5187 0.1886 0.6806 0.3912 0.8858 0.4811 0.4597 0.4974 0.5862 0.4210 0.1978 0.6687 0.3642 0.8745 0.4765 0.4710 0.5010 het 2051.72 162 5 81549216 . C T 2051.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.699;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8917;MQ=58.89;MQ0=0;MQRankSum=-2.065;QD=12.66;ReadPosRankSum=-0.627;VQSLOD=4.7390;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,83:162:99:2082,0,1923 5 81549240 81549240 C A exonic ATG10 nonsynonymous SNV ATG10:NM_031482:exon7:c.C659A:p.P220H,ATG10:NM_001131028:exon8:c.C659A:p.P220H 0.56 0.18 0.61 0.91 0.55 0.7 0.5788 0.2104 0.7197 0.9077 0.5855 0.5452 0.5606 0.6743 0.45 0.22 0.56 0.48 0.51 rs1864182 . . . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B 0.016 0.014 N 1 0.090 P 0 0.065 N 1.89 0.237 T 0.45 0.032 N 0.023 0.013 -0.923 0.452 T 0.000 0.000 T . . . 1.734 0.269 14.60 0.467 0.037 0.000 0.003 N c -1.462 -1.470 0.817 0.244 0.706 0.609 0 -2.66 0.057 -0.142 0.102 -0.115 0.114 0.000 0.063 0.000 0.016 0.810 0.010 . ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000152348.11|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000186468.8|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000152348.11|ENSG00000205464.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Stomach|Testis|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.5887 0.2027 0.7089 0.4637 0.9100 0.5861 0.5473 0.5640 0.6659 0.4857 0.2141 0.7017 0.4172 0.8958 0.5873 0.5583 0.5867 het 1448.38 115 5 81549240 . C A 1448.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.860;DP=115;Dels=0.00;FS=4.265;HRun=0;HaplotypeScore=2.6566;MQ=59.16;MQ0=0;MQRankSum=-0.378;QD=12.59;ReadPosRankSum=-0.300;VQSLOD=6.0181;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,55:115:99:1478,0,1627 5 82554375 82554375 A G exonic XRCC4 nonsynonymous SNV XRCC4:NM_001318012:exon7:c.A772G:p.I258V,XRCC4:NM_001318013:exon7:c.A772G:p.I258V,XRCC4:NM_003401:exon7:c.A772G:p.I258V,XRCC4:NM_022406:exon7:c.A772G:p.I258V,XRCC4:NM_022550:exon7:c.A772G:p.I258V . . . . . . 0.0002 9.701e-05 0 0 0 0.0004 0 0 0.0004 0.0002 0.0005 . . rs141122119 . . . . . . . . . . . . . 0.48 0.085 T 0.023 0.254 B 0.029 0.262 B 0.079 0.210 N 1.000 0.196 N 1.01 0.254 L 2.83 0.108 T -0.07 0.080 N 0.064 0.049 -0.965 0.383 T 0.013 0.051 T 0.007 0.175 T 2.357 0.344 18.54 0.927 0.217 0.432 0.268 N c -0.734 -0.637 0.008 0.117 0.706 0.609 0 -0.566 0.111 0.074 0.144 0.158 0.243 0.439 0.262 0.997 0.653 1.461 0.022 . . . 0.0002 0.0001 0.0001 0 0 0 0.0004 0 0 9.695e-05 0 0 0 0 0 0.0002 0 het 1320.89 94 5 82554375 . A G 1320.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.544;DP=94;Dels=0.00;FS=0.779;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;MQRankSum=0.688;QD=14.05;ReadPosRankSum=1.038;VQSLOD=4.7029;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,52:94:99:1351,0,1022 5 82786194 82786194 T C exonic VCAN synonymous SNV VCAN:NM_001126336:exon3:c.T348C:p.T116T,VCAN:NM_001164097:exon3:c.T348C:p.T116T,VCAN:NM_001164098:exon3:c.T348C:p.T116T,VCAN:NM_004385:exon3:c.T348C:p.T116T 0.34 0.5 0.38 0.2 0.39 0.19 0.3483 0.4718 0.4127 0.1746 0.3819 0.3655 0.3524 0.2328 0.41 0.47 0.38 0.4 0.37 rs12332199 COSM3761357 1(haematopoietic_and_lymphoid_tissue);3(large_intestine) Benign|Benign|Benign not_specified|Wagner_syndrome|Vitreoretinopathy RCV000254535.1|RCV000260409.1|RCV000300511.1 MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|C0339540:143200:232064001|HP:0007773:C1850109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3511 0.4780 0.4059 0.3248 0.1788 0.3818 0.3710 0.3623 0.2370 0.3994 0.4770 0.4187 0.3808 0.1809 0.3818 0.3839 0.3586 het 2633.84 186 5 82786194 . T C 2633.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.493;DP=186;Dels=0.00;FS=2.602;HRun=1;HaplotypeScore=0.9665;MQ=59.10;MQ0=0;MQRankSum=1.816;QD=14.16;ReadPosRankSum=0.738;VQSLOD=6.1658;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,102:186:99:2664,0,2204 5 82789647 82789647 A G exonic VCAN synonymous SNV VCAN:NM_001126336:exon5:c.A645G:p.V215V,VCAN:NM_001164097:exon5:c.A645G:p.V215V,VCAN:NM_001164098:exon5:c.A645G:p.V215V,VCAN:NM_004385:exon5:c.A645G:p.V215V 0.24 0.23 0.28 0.089 0.41 0.19 0.3210 0.2386 0.2660 0.0694 0.3827 0.3908 0.3282 0.2363 0.35 0.24 0.41 0.2 0.43 rs4470745 COSM3761358 3(large_intestine) Benign|Benign|Benign not_specified|Vitreoretinopathy|Wagner_syndrome RCV000244690.1|RCV000298722.1|RCV000338361.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|HP:0007773:C1850109|C0339540:143200:232064001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3230 0.2382 0.2710 0.3639 0.0681 0.3756 0.3976 0.3502 0.2385 0.3378 0.2371 0.3110 0.4040 0.0810 0.3795 0.4135 0.3531 het 1626.44 120 5 82789647 . A G 1626.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.163;DP=120;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.6651;MQ=59.81;MQ0=0;MQRankSum=-1.963;QD=13.55;ReadPosRankSum=0.703;VQSLOD=5.7998;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,59:120:99:1656,0,1699 5 82833145 82833145 G A exonic VCAN synonymous SNV VCAN:NM_001164097:exon7:c.G1362A:p.Q454Q,VCAN:NM_004385:exon8:c.G4323A:p.Q1441Q . . . . . . 0.6478 0.8053 0.5819 0.6347 0.6572 0.6218 0.6452 0.7024 0.67 0.79 0.61 0.76 0.66 rs2548541 COSM4407603 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) Benign|Benign|Benign not_specified|Wagner_syndrome|Vitreoretinopathy RCV000180254.2|RCV000267291.1|RCV000297799.1 MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|C0339540:143200:232064001|HP:0007773:C1850109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6422 0.8086 0.5879 0.7176 0.6288 0.6515 0.6124 0.6412 0.7028 0.6733 0.8134 0.5831 0.7053 0.6010 0.6460 0.6108 0.6633 hom 3417.79 113 5 82833145 . G A 3417.79 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7653;MQ=59.09;MQ0=0;QD=30.25;VQSLOD=8.9607;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3417,262,0 5 82833369 82833369 A G exonic VCAN nonsynonymous SNV VCAN:NM_001164097:exon7:c.A1586G:p.K529R,VCAN:NM_004385:exon8:c.A4547G:p.K1516R 0.47 0.51 0.53 0.39 0.53 0.4 0.4840 0.5115 0.5132 0.4105 0.5210 0.5054 0.4746 0.3840 0.5 0.51 0.5 0.53 0.52 rs309559 COSM4407147 1(liver);2(large_intestine) Benign|Benign|Benign not_specified|Wagner_syndrome|Vitreoretinopathy RCV000154116.4|RCV000288593.1|RCV000328381.1 MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|C0339540:143200:232064001|HP:0007773:C1850109 . . . . . . 0.112 0.564 T 0.019 0.167 B 0.026 0.195 B 0.111 0.194 N 1 0.090 P 0 0.065 N -1.89 0.847 D -0.37 0.132 N 0.016 0.005 -0.933 0.438 T 0.000 0.000 T . . . -0.828 0.039 0.037 0.314 0.018 0.087 0.144 N c -1.235 -1.164 1.000 0.439 0.672 0.522 0 2.79 0.317 0.310 0.190 -0.866 0.028 0.003 0.159 0.000 0.016 9.256 0.366 . . . 0.4850 0.5083 0.5195 0.5775 0.3997 0.5109 0.4981 0.4974 0.3861 0.4950 0.5103 0.5192 0.5567 0.3628 0.5069 0.4934 0.5174 hom 3050.94 97 5 82833369 . A G 3050.94 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.26;MQ0=0;QD=31.45;VQSLOD=8.8779;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3084,238,0 5 82834299 82834299 G A exonic VCAN nonsynonymous SNV VCAN:NM_001164097:exon7:c.G2516A:p.R839H,VCAN:NM_004385:exon8:c.G5477A:p.R1826H 0.36 0.34 0.46 0.32 0.43 0.27 0.3811 0.3568 0.4585 0.3522 0.4044 0.4001 0.3742 0.2713 0.38 0.35 0.4 0.32 0.43 rs188703 COSM4407162 1(pancreas);1(liver);1(large_intestine) Benign|Benign|Benign not_specified|Vitreoretinopathy|Wagner_syndrome RCV000154119.4|RCV000282165.1|RCV000337159.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|HP:0007773:C1850109|C0339540:143200:232064001 . . . . . . 0.002 0.784 D 0.347 0.318 B 0.077 0.270 B 0.964 0.082 N 1 0.090 P 0 0.065 N -1.85 0.845 D 0.18 0.098 N 0.027 0.009 -1.025 0.222 T 0.000 0.000 T . . . 1.532 0.246 13.49 0.823 0.136 0.131 0.175 N c -0.863 -0.877 1.000 0.408 0.672 0.522 0 0.253 0.147 1.737 0.376 1.048 0.713 0.157 0.235 0.008 0.104 2.050 0.033 . . . 0.3836 0.3487 0.4570 0.4830 0.3447 0.3898 0.3921 0.3988 0.2732 0.3726 0.3493 0.4435 0.4570 0.31 0.3877 0.3821 0.3969 hom 4813.16 146 5 82834299 . G A 4813.16 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9679;MQ=59.35;MQ0=0;QD=32.97;VQSLOD=6.8360;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,145:146:99:4776,382,0 5 82834630 82834630 T C exonic VCAN synonymous SNV VCAN:NM_001164097:exon7:c.T2847C:p.G949G,VCAN:NM_004385:exon8:c.T5808C:p.G1936G 0.47 0.5 0.53 0.39 0.53 0.4 0.4838 0.5101 0.5136 0.4091 0.5206 0.5057 0.4746 0.3826 0.5 0.5 0.5 0.53 0.52 rs309557 COSM4407356 1(liver);2(large_intestine) Benign|Benign|Benign not_specified|Wagner_syndrome|Vitreoretinopathy RCV000154120.4|RCV000286138.1|RCV000381744.1 MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|C0339540:143200:232064001|HP:0007773:C1850109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4849 0.5051 0.5198 0.5779 0.3994 0.5109 0.4984 0.4971 0.3849 0.4950 0.5075 0.5215 0.5596 0.3640 0.5063 0.4950 0.5143 hom 3343.98 108 5 82834630 . T C 3343.98 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.79;MQ0=0;QD=30.96;VQSLOD=8.9190;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3343,280,0 5 82835545 82835545 A G exonic VCAN synonymous SNV VCAN:NM_001164097:exon7:c.A3762G:p.R1254R,VCAN:NM_004385:exon8:c.A6723G:p.R2241R 0.47 0.51 0.53 0.39 0.52 0.4 0.4835 0.5066 0.5131 0.4092 0.5201 0.5055 0.4755 0.3842 0.5 0.5 0.5 0.53 0.53 rs160279 COSM4407224 1(liver);2(large_intestine) Benign|Benign|Benign not_specified|Vitreoretinopathy|Wagner_syndrome RCV000180248.2|RCV000302059.1|RCV000338406.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|HP:0007773:C1850109|C0339540:143200:232064001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4847 0.5032 0.5196 0.5778 0.3997 0.5111 0.4980 0.4969 0.3862 0.4940 0.5044 0.5215 0.5596 0.3658 0.5072 0.4943 0.5173 hom 2462.84 71 5 82835545 . A G 2462.84 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=34.69;VQSLOD=9.4348;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2496,199,0 5 82835724 82835724 T A exonic VCAN nonsynonymous SNV VCAN:NM_001164097:exon7:c.T3941A:p.F1314Y,VCAN:NM_004385:exon8:c.T6902A:p.F2301Y 0.47 0.51 0.52 0.39 0.52 0.4 0.4814 0.5062 0.5108 0.4092 0.5189 0.5030 0.4703 0.3813 0.5 0.5 0.49 0.53 0.52 rs160278 COSM4408003 1(liver);2(large_intestine) Benign|Benign|Benign\x2cUncertain significance|Likely benign|Likely benign not_specified|Vitreoretinopathy|Wagner_syndrome\x2cnot_specified|Wagner_syndrome|Vitreoretinopathy RCV000180249.2|RCV000272515.1|RCV000327636.1\x2cRCV000180252.1|RCV000273472.1|RCV000333214.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT\x2cMedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|HP:0007773:C1850109|C0339540:143200:232064001\x2cCN169374|C0339540:143200:232064001|HP:0007773:C1850109 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.701 0.062 N 1 0.090 P -2.08 0.002 N 2.33 0.165 T 0.74 0.020 N 0.043 0.028 -0.933 0.437 T 0.000 0.000 T . . . -1.546 0.016 0.002 0.446 0.034 0.009 0.036 N c -1.411 -1.311 1.000 0.500 0.732 0.924 0 3.61 0.403 0.451 0.213 -0.811 0.031 0.009 0.180 0.002 0.062 6.622 0.219 . . . 0.4825 0.5029 0.5173 0.5780 0.3996 0.5092 0.4953 0.4938 0.3832 0.4928 0.5045 0.5239 0.5596 0.3667 0.5054 0.4920 0.5163 hom 3356.48 108 5 82835724 . T A 3356.48 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7653;MQ=58.16;MQ0=0;QD=31.08;VQSLOD=7.6951;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3356,271,0 5 82837631 82837631 G T exonic VCAN nonsynonymous SNV VCAN:NM_001164097:exon7:c.G5848T:p.D1950Y,VCAN:NM_004385:exon8:c.G8809T:p.D2937Y 0.36 0.36 0.46 0.32 0.43 0.27 0.3812 0.3720 0.4574 0.3514 0.4041 0.3983 0.3731 0.2711 0.39 0.37 0.4 0.36 0.43 rs160277 COSM4406919 1(liver);1(large_intestine) Benign|Benign|Benign not_specified|Vitreoretinopathy|Wagner_syndrome RCV000180253.2|RCV000277745.1|RCV000316409.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|HP:0007773:C1850109|C0339540:143200:232064001 . . . . . . 0.003 0.682 D 0.987 0.600 D 0.706 0.525 P 0.904 0.074 N 1 0.090 P 0.69 0.170 N 2.22 0.182 T -1.78 0.522 N 0.067 0.054 -0.917 0.460 T 0.000 0.000 T . . . 3.696 0.501 23.3 0.788 0.120 0.074 0.133 N c -0.524 -0.661 1.000 0.409 0.635 0.413 0 0.819 0.179 0.658 0.245 0.205 0.253 0.001 0.137 0.002 0.062 2.397 0.041 . . . 0.3843 0.3686 0.4566 0.4788 0.3444 0.3889 0.3916 0.3981 0.2731 0.3777 0.3685 0.4438 0.4570 0.3123 0.3877 0.3810 0.3965 hom 3819.89 121 5 82837631 . G T 3819.89 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.85;MQ0=0;QD=31.57;VQSLOD=9.5567;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3820,292,0 5 82875800 82875800 C T exonic VCAN synonymous SNV VCAN:NM_001126336:exon12:c.C1659T:p.V553V,VCAN:NM_001164097:exon13:c.C6921T:p.V2307V,VCAN:NM_001164098:exon13:c.C4620T:p.V1540V,VCAN:NM_004385:exon14:c.C9882T:p.V3294V 0.99 1. 0.99 1. 0.98 1. 0.9755 0.9940 0.9906 1 0.9584 0.9649 0.9791 0.9900 0.97 0.99 0.97 0.97 0.93 rs308365 . . Benign|Benign|Benign not_specified|Vitreoretinopathy|Wagner_syndrome RCV000245890.1|RCV000269869.1|RCV000308582.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|HP:0007773:C1850109|C0339540:143200:232064001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9755 0.9940 0.9889 0.9834 1 0.9584 0.9638 0.9717 0.9906 0.9680 0.9919 0.9845 0.9801 0.9994 0.9602 0.9516 0.9654 hom 4254.46 138 5 82875800 . C T 4254.46 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8893;MQ=58.98;MQ0=0;QD=30.83;VQSLOD=9.5310;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4254,325,0 5 82940273 82940273 C G exonic HAPLN1 synonymous SNV HAPLN1:NM_001884:exon4:c.G684C:p.G228G 0.74 0.87 0.76 0.58 0.72 0.73 0.7017 0.8570 0.7386 0.5741 0.6407 0.6876 0.6958 0.7273 0.74 0.85 0.68 0.73 0.7 rs2242128 COSM4407163 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6983 0.8621 0.7392 0.7486 0.5608 0.6416 0.6824 0.6982 0.7320 0.7157 0.8582 0.7368 0.7020 0.5378 0.6352 0.6701 0.7133 hom 2514.95 85 5 82940273 . C G 2514.95 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.96;MQ0=0;QD=29.59;VQSLOD=8.4149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2548,199,0 5 87498849 87498849 G A exonic TMEM161B synonymous SNV TMEM161B:NM_001349405:exon7:c.C298T:p.L100L,TMEM161B:NM_001349402:exon8:c.C298T:p.L100L,TMEM161B:NM_001349403:exon8:c.C298T:p.L100L,TMEM161B:NM_001289007:exon9:c.C844T:p.L282L,TMEM161B:NM_001349400:exon9:c.C298T:p.L100L,TMEM161B:NM_001349407:exon9:c.C844T:p.L282L,TMEM161B:NM_153354:exon9:c.C844T:p.L282L,TMEM161B:NM_001289008:exon10:c.C811T:p.L271L 0.48 0.1 0.61 0.79 0.59 0.47 0.5602 0.1773 0.6394 0.7674 0.6217 0.5988 0.5319 0.4581 0.47 0.19 0.61 0.47 0.6 rs3097146 COSM5021476 1(bone);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5708 0.1705 0.6300 0.4269 0.7706 0.6238 0.6107 0.5655 0.4572 0.5041 0.1860 0.6178 0.43 0.7887 0.6308 0.6197 0.5758 hom 2701.44 92 5 87498849 . G A 2701.44 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=29.36;VQSLOD=8.4820;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2734,205,0 5 89703641 89703641 C G exonic CETN3 nonsynonymous SNV CETN3:NM_001297765:exon2:c.G28C:p.V10L,CETN3:NM_001297768:exon2:c.G28C:p.V10L,CETN3:NM_004365:exon2:c.G28C:p.V10L 0.19 0.063 0.16 0.2 0.26 0.28 0.2291 0.0898 0.1445 0.2306 0.1904 0.2581 0.2444 0.2726 0.21 0.094 0.27 0.17 0.12 rs4873 . . . . . . . . . . . . . 0.332 0.130 T 0.0 0.026 B 0.001 0.040 B 0.120 0.190 N 0.971 0.257 P 0.345 0.112 N -0.13 0.734 T -0.43 0.154 N 0.047 0.059 -1.091 0.054 T 0.000 0.000 T . . . 2.311 0.339 18.24 0.983 0.398 0.878 0.472 D c -0.496 -0.274 1.000 0.747 0.706 0.609 0 3.64 0.407 1.077 0.301 0.935 0.490 0.998 0.411 0.994 0.587 8.043 0.295 . ENSG00000113356.6 Adrenal_Gland 0.2250 0.0838 0.1476 0.2309 0.2374 0.1835 0.2616 0.2191 0.2650 0.1984 0.0861 0.1711 0.2086 0.2460 0.1964 0.2593 0.2181 het 771.77 68 5 89703641 . C G 771.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.098;DP=68;Dels=0.00;FS=0.899;HRun=0;HaplotypeScore=0.0000;MQ=57.53;MQ0=0;MQRankSum=0.822;QD=11.35;ReadPosRankSum=-0.920;VQSLOD=4.5613;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,33:68:99:802,0,834 5 89769728 89769728 T C exonic MBLAC2 nonsynonymous SNV MBLAC2:NM_203406:exon1:c.A382G:p.T128A 0.98 1. 1. 0.92 1. 1. 0.9948 0.9991 0.9997 0.9339 1 0.9999 0.9956 0.9994 1. 1. 1. 0.98 0.69 rs2162986 COSM1754361 1(urinary_tract) . . . . . . . . . . . 0.539 0.068 T 0.0 0.026 B 0.0 0.013 B 0.001 0.416 N 1.000 0.090 P -1.655 0.004 N -0.52 0.707 T 1.03 0.015 N 0.03 0.054 -0.959 0.393 T 0.000 0.000 T . . . 0.726 0.163 8.996 0.847 0.149 0.096 0.151 N c -0.770 -0.488 1.000 0.747 0.493 0.174 0 4.47 0.536 1.385 0.338 0.016 0.142 1.000 0.715 0.998 0.697 8.176 0.303 Metallo-beta-lactamase . . 0.9945 0.9988 0.9998 1 0.9276 1 0.9999 0.9976 0.9994 0.9958 0.9991 0.9988 1 0.9277 1 0.9999 0.9990 hom 429.44 16 5 89769728 . T C 429.44 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.84;VQSLOD=13.6640;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:36.10:462,36,0 5 89820984 89820984 T C exonic LYSMD3 synonymous SNV LYSMD3:NM_001286812:exon2:c.A123G:p.E41E,LYSMD3:NM_198273:exon2:c.A123G:p.E41E 0.61 0.77 0.43 0.61 0.54 0.61 0.5627 0.7307 0.4075 0.5911 0.5409 0.5530 0.5791 0.6037 0.61 0.72 0.56 0.62 0.44 rs10069050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5518 0.7318 0.4135 0.5652 0.5933 0.5367 0.5507 0.5274 0.6052 0.6046 0.7257 0.4545 0.5533 0.5759 0.5556 0.5622 0.5420 hom 3641.65 121 5 89820984 . T C 3641.65 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6147;MQ=59.31;MQ0=0;QD=30.10;VQSLOD=8.5015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3641,271,0 5 90024735 90024735 G A exonic ADGRV1 nonsynonymous SNV ADGRV1:NM_032119:exon49:c.G10411A:p.E3471K 0.83 0.94 0.83 0.82 0.7 0.83 0.7484 0.9126 0.8576 0.7844 0.7301 0.6851 0.7136 0.8196 0.75 0.9 0.69 0.87 . rs2366928 . . other not_specified RCV000039504.6 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.333 N 1.000 0.189 P -2.43 0.001 N 1.81 0.252 T 0.86 0.017 N 0.084 0.507 -0.960 0.391 T 0.000 0.000 T . . . 2.022 0.304 16.35 0.309 0.017 0.024 0.067 N c -0.884 -0.581 0.072 0.156 0.651 0.465 0 5.6 0.849 4.391 0.592 0.244 0.267 1.000 0.715 0.975 0.474 11.643 0.503 . . . 0.7500 0.9098 0.8530 0.7209 0.7831 0.7270 0.6816 0.7374 0.8153 0.7566 0.9025 0.8170 0.7318 0.7915 0.7171 0.6754 0.7388 het 495.54 52 5 90024735 . G A 495.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.528;DP=52;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.9665;MQ=58.83;MQ0=0;MQRankSum=-0.417;QD=9.53;ReadPosRankSum=1.287;VQSLOD=6.2056;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:526,0,764 5 90107108 90107108 A G exonic ADGRV1 nonsynonymous SNV ADGRV1:NM_032119:exon74:c.A16031G:p.E5344G 0.95 0.83 0.97 1. 0.98 1. 0.9686 0.8514 0.9809 1 0.9804 0.9723 0.9697 0.9934 0.94 0.85 0.97 0.96 . rs2438374 . . other not_specified RCV000039538.9 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.559 N 1.000 0.182 P -1.655 0.004 N 1.84 0.258 T 1.9 0.005 N 0.029 0.022 -0.970 0.371 T 0.000 0.000 T . . . 1.122 0.202 11.33 0.240 0.010 0.136 0.178 N c -0.797 -0.581 0.004 0.104 0.706 0.609 0 4.61 0.566 1.710 0.373 0.138 0.222 0.966 0.337 0.798 0.336 7.885 0.286 Na-Ca exchanger/integrin-beta4 . . 0.9697 0.8457 0.9797 0.9243 1 0.9810 0.9744 0.9679 0.9932 0.9407 0.8437 0.9702 0.8874 1 0.9814 0.9789 0.9654 hom 1544.61 50 5 90107108 . A G 1544.61 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8218;MQ=58.66;MQ0=0;QD=30.89;VQSLOD=8.9685;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1578,120,0 5 90119324 90119324 G A exonic ADGRV1 nonsynonymous SNV ADGRV1:NM_032119:exon76:c.G16279A:p.V5427M 0.97 0.9 0.99 1. 1. 1. 0.9920 0.9120 0.9955 1 1 0.9994 0.9944 0.9998 0.97 0.91 1. 0.98 . rs2438378 . . other not_specified RCV000039541.6 MedGen CN169374 . . . . . . 0.301 0.183 T 0.003 0.119 B 0.009 0.176 B 0.286 0.039 N 1 0.090 P 0 0.065 N 1.61 0.284 T 0.33 0.049 N 0.005 0.000 -0.978 0.354 T 0.000 0.000 T . . . -1.122 0.028 0.009 0.552 0.052 0.013 0.045 N c -2.256 -2.309 0.919 0.266 0.706 0.609 0 -9.65 0.004 -0.120 0.105 -1.926 0.005 0.000 0.063 0.001 0.043 14.119 0.646 Na-Ca exchanger/integrin-beta4 . . 0.9930 0.9078 0.9950 0.9965 1 1 0.9995 0.9936 0.9997 0.9734 0.9083 0.9916 1 1 1 0.9995 0.9898 hom 5142.58 180 5 90119324 . G A 5142.58 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.38;MQ0=0;QD=28.57;VQSLOD=8.4390;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:5142,400,0 5 90449154 90449154 G A exonic ADGRV1 synonymous SNV ADGRV1:NM_032119:exon89:c.G18741A:p.G6247G 0.14 0.15 0.086 0.12 0.12 0.2 0.1275 0.1474 0.0889 0.1328 0.1162 0.1163 0.1047 0.1927 0.12 0.14 0.11 0.17 . rs13158963 COSM3761375 1(large_intestine) other not_specified RCV000039556.6 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1175 0.1384 0.0886 0.1180 0.1241 0.1085 0.1088 0.1087 0.1755 0.1163 0.1401 0.0889 0.1159 0.1300 0.1037 0.1049 0.1232 het 268.03 27 5 90449154 . G A 268.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.949;DP=27;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=0.0000;MQ=57.73;MQ0=0;MQRankSum=-0.123;QD=9.93;ReadPosRankSum=0.370;VQSLOD=4.9361;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,11:27:99:298,0,484 5 94749723 94749723 G A exonic FAM81B synonymous SNV FAM81B:NM_152548:exon4:c.G366A:p.A122A 0.22 0.24 0.24 0.11 0.33 0.16 0.2495 0.2532 0.1778 0.1255 0.2214 0.3020 0.2733 0.1597 0.28 0.25 0.29 0.36 0.3 rs7726891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2479 0.2529 0.1856 0.4151 0.1242 0.2179 0.2985 0.2816 0.1613 0.2661 0.2712 0.2237 0.3742 0.1309 0.2135 0.2903 0.2659 hom 4377.26 142 5 94749723 . G A 4377.26 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=30.83;VQSLOD=9.4240;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:142:99:4377,352,0 5 94772540 94772540 C T exonic FAM81B nonsynonymous SNV FAM81B:NM_152548:exon7:c.C823T:p.P275S 1. 1. 1. 1. 1. 1. 0.9999 1 1 1 1 1.0000 1 0.9995 . . . 1. 1. rs6878669 COSM4591005 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1 1 1 1 1 1 1 0.9994 1.0000 1 1 1 1 1 0.9999 1 hom 2192.10 81 5 94772540 . C T 2192.10 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.06;VQSLOD=13.8638;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2225,166,0 5 94826655 94826655 C A exonic TTC37 nonsynonymous SNV TTC37:NM_014639:exon37:c.G3888T:p.R1296S 0.23 0.4 0.18 0.12 0.17 0.2 0.1824 0.3932 0.1622 0.1294 0.1164 0.1629 0.1785 0.1976 0.23 0.37 0.16 0.29 0.17 rs2303650 COSM3761382 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.086 0.326 T 0.704 0.400 P 0.231 0.366 B 0.000 0.843 N 0.117 0.358 P 2.135 0.597 M -1.18 0.783 T -1.54 0.373 N 0.174 0.211 -0.994 0.316 T 0.000 0.000 T . . . 3.883 0.523 23.5 0.993 0.588 0.946 0.615 D c -0.127 -0.040 0.933 0.271 0.732 0.924 0 3.23 0.360 1.327 0.331 0.063 0.168 0.962 0.335 0.992 0.562 5.884 0.180 . ENSG00000153347.5|ENSG00000153347.5|ENSG00000198677.6|ENSG00000153347.5|ENSG00000198677.6|ENSG00000198677.6 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.1781 0.3982 0.1652 0.3329 0.1243 0.1197 0.1521 0.1969 0.1966 0.2113 0.3909 0.1933 0.3013 0.1136 0.1077 0.1434 0.1724 het 1020.70 79 5 94826655 . C A 1020.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.558;DP=79;Dels=0.00;FS=6.130;HRun=0;HaplotypeScore=0.9987;MQ=59.76;MQ0=0;MQRankSum=-0.662;QD=12.92;ReadPosRankSum=-1.143;VQSLOD=5.3228;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,41:79:99:1051,0,1054 5 94861118 94861118 G C exonic TTC37 nonsynonymous SNV TTC37:NM_014639:exon15:c.C1309G:p.L437V 0.24 0.42 0.18 0.12 0.18 0.23 0.1927 0.4056 0.1665 0.1303 0.1176 0.1688 0.1839 0.2375 0.24 0.39 0.16 0.29 0.13 rs17084873 COSM3761383 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.288 0.151 T 0.002 0.102 B 0.004 0.112 B 0.212 0.163 N 1 0.090 P 0.205 0.094 N 0.31 0.759 T -0.66 0.191 N 0.069 0.056 -1.007 0.279 T 0.000 0.000 T . . . 1.439 0.236 12.99 0.970 0.316 0.533 0.291 D c -0.461 -0.259 0.925 0.268 0.732 0.924 0 3.87 0.437 1.213 0.318 -0.297 0.082 0.845 0.301 0.983 0.502 5.587 0.165 Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain ENSG00000153347.5|ENSG00000153347.5|ENSG00000198677.6|ENSG00000153347.5|ENSG00000198677.6|ENSG00000198677.6 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.1876 0.4105 0.1701 0.3412 0.1247 0.1204 0.1582 0.2026 0.2343 0.2174 0.4036 0.2005 0.3079 0.1119 0.1078 0.1475 0.1857 het 1681.02 145 5 94861118 . G C 1681.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.632;DP=145;Dels=0.00;FS=0.619;HRun=0;HaplotypeScore=7.9333;MQ=58.51;MQ0=0;MQRankSum=0.927;QD=11.59;ReadPosRankSum=0.967;VQSLOD=4.7644;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,71:145:99:1711,0,1732 5 94939193 94939193 A G exonic ARSK nonsynonymous SNV ARSK:NM_198150:exon8:c.A1574G:p.Q525R 0.073 0.036 0.059 0.11 0.057 0.11 0.0633 0.0326 0.1025 0.1254 0.0380 0.0458 0.0727 0.1032 0.039 0.033 0.042 0.033 0.057 rs17084927 COSM3761384 1(large_intestine) . . . . . . . . . . . 0.809 0.030 T 0.0 0.026 B 0.0 0.013 B 0.756 0.097 N 1 0.090 P 0.11 0.085 N -4.75 0.981 D -0.11 0.087 N 0.038 0.018 -0.502 0.686 T 0.033 0.140 T . . . -0.983 0.033 0.017 0.419 0.030 0.056 0.113 N c -1.267 -1.231 0.133 0.171 0.615 0.372 0 -2.58 0.058 0.249 0.179 1.194 0.916 0.000 0.063 0.489 0.269 8.007 0.293 . . . 0.0639 0.0319 0.0943 0.1167 0.1185 0.0421 0.0404 0.0720 0.0997 0.0449 0.0345 0.0859 0.0762 0.1056 0.0361 0.0420 0.0692 het 558.31 49 5 94939193 . A G 558.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.707;DP=49;Dels=0.00;FS=1.171;HRun=1;HaplotypeScore=2.9978;MQ=57.89;MQ0=0;MQRankSum=-0.197;QD=11.39;ReadPosRankSum=0.714;VQSLOD=5.2348;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,23:49:99:588,0,687 5 95728898 95728898 C G exonic PCSK1 nonsynonymous SNV PCSK1:NM_000439:exon14:c.G2069C:p.S690T,PCSK1:NM_001177875:exon14:c.G1928C:p.S643T 0.24 0.13 0.23 0.36 0.26 0.28 0.2653 0.1525 0.2065 0.3096 0.2939 0.2745 0.2742 0.3048 0.24 0.16 0.28 0.2 0.26 rs6235 COSM3761392 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign|Likely benign Monogenic_Non-Syndromic_Obesity|Proprotein_convertase_1/3_deficiency RCV000304198.1|RCV000404859.1 MedGen|MedGen:OMIM:Orphanet CN239457|C1833053:600955:ORPHA71528 Proinsulin levels . . 21873549 rs6235 1E-26 0.186 0.214 T 0.003 0.102 B 0.004 0.093 B 0.001 0.404 N 1.000 0.207 P 0.805 0.203 L -0.05 0.661 T -0.85 0.232 N 0.032 0.014 -1.051 0.140 T 0.000 0.000 T . . . 1.362 0.227 12.59 0.932 0.223 0.129 0.174 N c -0.394 -0.292 0.462 0.206 0.615 0.372 0 3.95 0.448 1.038 0.297 0.935 0.490 0.001 0.137 0.982 0.498 9.522 0.381 . . . 0.2630 0.1497 0.1988 0.2888 0.3069 0.2854 0.2732 0.2531 0.3047 0.2345 0.1566 0.1811 0.2933 0.3178 0.2823 0.2580 0.2883 het 1649.21 107 5 95728898 . C G 1649.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.081;DP=107;Dels=0.00;FS=0.785;HRun=0;HaplotypeScore=4.7262;MQ=58.50;MQ0=0;MQRankSum=-1.345;QD=15.41;ReadPosRankSum=1.557;VQSLOD=3.9921;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,64:107:99:1679,0,1180 5 95728974 95728974 G C exonic PCSK1 nonsynonymous SNV PCSK1:NM_000439:exon14:c.C1993G:p.Q665E,PCSK1:NM_001177875:exon14:c.C1852G:p.Q618E 0.26 0.18 0.23 0.36 0.26 0.28 0.2688 0.1879 0.2079 0.3085 0.2939 0.2749 0.2726 0.3066 0.25 0.19 0.28 0.21 0.24 rs6234 COSM5003991 1(pancreas) Likely benign|Likely benign Proprotein_convertase_1/3_deficiency|Monogenic_Non-Syndromic_Obesity RCV000342685.1|RCV000397598.1 MedGen:OMIM:Orphanet|MedGen C1833053:600955:ORPHA71528|CN239457 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.463 0.124 N 1 0.090 P -0.695 0.019 N 0.05 0.645 T 0.13 0.055 N 0.008 0.009 -1.002 0.294 T 0.000 0.000 T . . . -2.504 0.003 0.001 0.603 0.063 0.015 0.049 N c -1.590 -1.511 0.122 0.169 0.615 0.372 0 -0.272 0.122 0.110 0.152 -0.883 0.027 0.006 0.172 0.040 0.157 11.181 0.477 . . . 0.2659 0.1874 0.2004 0.2887 0.3053 0.2856 0.2737 0.2533 0.3070 0.2447 0.1916 0.1830 0.2947 0.3165 0.2827 0.2583 0.2920 het 925.46 76 5 95728974 . G C 925.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.265;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8229;MQ=58.23;MQ0=0;MQRankSum=0.344;QD=12.18;ReadPosRankSum=0.111;VQSLOD=4.9675;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,38:76:99:955,0,1011 5 95733112 95733112 A G exonic PCSK1 synonymous SNV PCSK1:NM_000439:exon12:c.T1650C:p.N550N,PCSK1:NM_001177875:exon12:c.T1509C:p.N503N 0.34 0.41 0.41 0.24 0.37 0.29 0.3528 0.4194 0.4585 0.2742 0.2121 0.3623 0.3477 0.2955 0.39 0.41 0.38 0.41 0.39 rs6233 . . Likely benign|Likely benign Proprotein_convertase_1/3_deficiency|Monogenic_Non-Syndromic_Obesity RCV000275790.1|RCV000368049.1 MedGen:OMIM:Orphanet|MedGen C1833053:600955:ORPHA71528|CN239457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3573 0.4174 0.4672 0.4226 0.2696 0.2171 0.3676 0.3732 0.2971 0.3581 0.4192 0.4653 0.3907 0.2974 0.2223 0.3564 0.3235 het 1310.65 85 5 95733112 . A G 1310.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.094;DP=85;Dels=0.00;FS=9.238;HRun=0;HaplotypeScore=0.9973;MQ=59.49;MQ0=0;MQRankSum=-0.076;QD=15.42;ReadPosRankSum=-1.013;VQSLOD=4.5627;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,50:85:99:1341,0,957 5 96116808 96116808 G A exonic ERAP1 synonymous SNV ERAP1:NM_001040458:exon17:c.C2542T:p.L848L,ERAP1:NM_001198541:exon17:c.C2542T:p.L848L,ERAP1:NM_001349244:exon17:c.C2542T:p.L848L,ERAP1:NM_016442:exon17:c.C2542T:p.L848L 0.06 0.0053 0.11 . 0.14 0.076 0.1011 0.0209 0.0639 0.0029 0.1179 0.1373 0.1079 0.0754 0.098 0.023 0.14 0.022 0.13 rs17481856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1003 0.0201 0.0725 0.1272 0.0011 0.1187 0.1346 0.1179 0.0771 0.0885 0.0223 0.0813 0.1258 0.0006 0.1163 0.1267 0.1330 het 1183.90 111 5 96116808 . G A 1183.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.445;DP=111;Dels=0.00;FS=9.035;HRun=1;HaplotypeScore=7.2934;MQ=59.46;MQ0=0;MQRankSum=-1.458;QD=10.67;ReadPosRankSum=0.775;VQSLOD=3.1162;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,49:111:99:1214,0,1746 5 96118852 96118852 G C exonic ERAP1 nonsynonymous SNV ERAP1:NM_001040458:exon15:c.C2188G:p.Q730E,ERAP1:NM_001198541:exon15:c.C2188G:p.Q730E,ERAP1:NM_001349244:exon15:c.C2188G:p.Q730E,ERAP1:NM_016442:exon15:c.C2188G:p.Q730E 0.68 0.71 0.65 0.57 0.71 0.73 0.6939 0.7107 0.6677 0.4948 0.6973 0.7131 0.6784 0.7275 0.71 0.71 0.71 0.7 0.7 rs27044 COSM4419727 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.62 0.056 T 0.022 0.196 B 0.035 0.214 B 0.042 0.239 N 1.000 0.202 P 1.065 0.271 L 3.41 0.056 T 0.2 0.049 N 0.038 0.100 -0.976 0.359 T 0.000 0.000 T . . . -0.586 0.051 0.135 0.612 0.065 0.296 0.236 N c -0.637 -0.492 1.000 0.446 0.706 0.609 0 4.78 0.605 0.778 0.262 0.095 0.197 0.051 0.212 0.791 0.333 5.458 0.158 ERAP1-like C-terminal domain ENSG00000164307.8|ENSG00000272109.1|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164308.12|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000272109.1|ENSG00000164307.8|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000272109.1|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000272109.1|ENSG00000248734.2|ENSG00000164307.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Whole_Blood|Whole_Blood 0.6917 0.7170 0.6573 0.6928 0.4955 0.6951 0.7183 0.6893 0.7273 0.7098 0.7257 0.6739 0.7252 0.5081 0.7041 0.7275 0.6765 het 4070.61 249 5 96118852 . G C 4070.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.553;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3697;MQ=59.31;MQ0=0;MQRankSum=-1.548;QD=16.35;ReadPosRankSum=0.134;VQSLOD=3.6414;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:123,126:249:99:3432,0,3383 5 96121524 96121524 C T exonic ERAP1 synonymous SNV ERAP1:NM_001040458:exon13:c.G1911A:p.A637A,ERAP1:NM_001198541:exon13:c.G1911A:p.A637A,ERAP1:NM_001349244:exon13:c.G1911A:p.A637A,ERAP1:NM_016442:exon13:c.G1911A:p.A637A 0.56 0.59 0.54 0.54 0.56 0.55 0.5531 0.5853 0.5897 0.4749 0.5780 0.5537 0.5198 0.5376 0.56 0.57 0.56 0.53 0.45 rs469783 COSM4419152 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5533 0.5861 0.5784 0.4425 0.4780 0.5798 0.5628 0.5327 0.5375 0.5776 0.5861 0.5916 0.4636 0.4957 0.5956 0.5814 0.5367 het 1035.28 89 5 96121524 . C T 1035.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.531;DP=89;Dels=0.00;FS=4.141;HRun=1;HaplotypeScore=3.9227;MQ=57.64;MQ0=0;MQRankSum=-1.748;QD=11.63;ReadPosRankSum=0.502;VQSLOD=3.7526;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,41:89:99:1065,0,1197 5 96124330 96124330 T C exonic ERAP1 nonsynonymous SNV ERAP1:NM_001040458:exon11:c.A1583G:p.K528R,ERAP1:NM_001198541:exon11:c.A1583G:p.K528R,ERAP1:NM_001349244:exon11:c.A1583G:p.K528R,ERAP1:NM_016442:exon11:c.A1583G:p.K528R 0.6 0.6 0.6 0.55 0.65 0.59 0.6211 0.6050 0.6215 0.4776 0.6570 0.6453 0.5969 0.5952 0.63 0.6 0.64 0.63 0.57 rs30187 COSM4160065 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . Ankylosing spondylitis . . 21743469 rs30187 2E-27 0.073 0.359 T 0.991 0.715 D 0.889 0.699 P 0.000 0.843 D 0.001 0.454 P 3.695 0.947 H 3.58 0.046 T -1.92 0.446 N 0.188 0.444 -1.002 0.295 T 0.000 0.000 T . . . 5.577 0.759 26.4 0.998 0.913 0.992 0.932 D c 0.791 0.783 1.000 0.747 0.672 0.522 0 6.17 0.997 7.427 0.793 1.061 0.807 1.000 0.715 0.998 0.697 16.484 0.839 . ENSG00000164307.8|ENSG00000272109.1|ENSG00000272109.1|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164308.12|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000272109.1|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000272109.1|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000272109.1|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000272109.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.6203 0.6072 0.6117 0.5557 0.4792 0.6540 0.6533 0.6053 0.5944 0.6380 0.6137 0.6283 0.5533 0.4957 0.6706 0.6644 0.6020 het 1298.76 81 5 96124330 . T C 1298.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.387;DP=81;Dels=0.00;FS=15.312;HRun=3;HaplotypeScore=2.9979;MQ=59.72;MQ0=0;MQRankSum=-0.102;QD=16.03;ReadPosRankSum=-1.329;VQSLOD=3.5669;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,46:81:99:1329,0,991 5 96126308 96126308 A G exonic ERAP1 synonymous SNV ERAP1:NM_001040458:exon9:c.T1359C:p.S453S,ERAP1:NM_001198541:exon9:c.T1359C:p.S453S,ERAP1:NM_001349244:exon9:c.T1359C:p.S453S,ERAP1:NM_016442:exon9:c.T1359C:p.S453S 0.6 0.6 0.6 0.55 0.65 0.59 0.6202 0.6042 0.6194 0.4759 0.6563 0.6445 0.5969 0.5948 0.63 0.6 0.64 0.63 0.56 rs27529 COSM4417795 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6199 0.6068 0.6111 0.5559 0.4790 0.6539 0.6529 0.6051 0.5943 0.6377 0.6132 0.6277 0.5563 0.4950 0.6704 0.6640 0.6043 het 927.78 109 5 96126308 . A G 927.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.784;DP=109;Dels=0.00;FS=3.795;HRun=0;HaplotypeScore=3.4317;MQ=60.00;MQ0=0;MQRankSum=-0.419;QD=8.51;ReadPosRankSum=-1.142;VQSLOD=4.7785;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,37:109:99:958,0,1984 5 96127833 96127833 G A exonic ERAP1 synonymous SNV ERAP1:NM_001040458:exon8:c.C1251T:p.H417H,ERAP1:NM_001198541:exon8:c.C1251T:p.H417H,ERAP1:NM_001349244:exon8:c.C1251T:p.H417H,ERAP1:NM_016442:exon8:c.C1251T:p.H417H 0.097 0.014 0.25 0.027 0.15 0.12 0.1318 0.0296 0.2293 0.0290 0.1393 0.1473 0.1322 0.1158 0.11 0.032 0.14 0.054 0.14 rs3213809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1357 0.0288 0.2270 0.1308 0.0282 0.1404 0.1431 0.1470 0.1188 0.1031 0.0290 0.2088 0.1291 0.0285 0.1437 0.135 0.1538 het 1259.84 91 5 96127833 . G A 1259.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.190;DP=91;Dels=0.00;FS=2.851;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;MQRankSum=-0.784;QD=13.84;ReadPosRankSum=-0.283;VQSLOD=6.1745;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,49:91:99:1290,0,1151 5 96129512 96129512 A G exonic ERAP1 synonymous SNV ERAP1:NM_001040458:exon6:c.T1068C:p.A356A,ERAP1:NM_001198541:exon6:c.T1068C:p.A356A,ERAP1:NM_001349244:exon6:c.T1068C:p.A356A,ERAP1:NM_016442:exon6:c.T1068C:p.A356A 0.65 0.58 0.71 0.55 0.79 0.67 0.7221 0.6096 0.6848 0.4808 0.7755 0.7834 0.7056 0.6761 0.72 0.6 0.78 0.64 0.66 rs27434 COSM4416463 1(haematopoietic_and_lymphoid_tissue) . . . . . Ankylosing spondylitis 0.84 . 20062062 rs27434 5E-12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7192 0.6089 0.6831 0.6838 0.4801 0.7724 0.7874 0.7227 0.6730 0.7216 0.6184 0.7086 0.6833 0.4963 0.7873 0.7909 0.7372 hom 1472.71 45 5 96129512 . A G 1472.71 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.73;VQSLOD=14.1456;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1506,117,0 5 96139250 96139250 C G exonic ERAP1 nonsynonymous SNV ERAP1:NM_001040458:exon2:c.G380C:p.R127P,ERAP1:NM_001198541:exon2:c.G380C:p.R127P,ERAP1:NM_001349244:exon2:c.G380C:p.R127P,ERAP1:NM_016442:exon2:c.G380C:p.R127P 0.56 0.48 0.59 0.52 0.72 0.54 0.6387 0.5209 0.5549 0.4533 0.7179 0.7109 0.6289 0.5454 0.65 0.53 0.71 0.6 0.62 rs26653 COSM4160066 1(pancreas);1(thyroid) . . . . . . . . . . . 0.229 0.184 T 0.0 0.026 B 0.002 0.063 B 0.575 0.112 N 1 0.090 P -1.615 0.004 N 4.21 0.301 T 1.17 0.054 N 0.127 0.144 -0.993 0.319 T 0.000 0.000 T . . . 0.569 0.148 7.937 0.646 0.073 0.002 0.012 N c -1.227 -1.139 1.000 0.443 0.706 0.609 0 3.71 0.416 0.537 0.227 0.133 0.217 0.000 0.063 0.016 0.126 6.188 0.196 Peptidase M1\x2c membrane alanine aminopeptidase\x2c N-terminal ENSG00000164307.8|ENSG00000272109.1|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000272109.1|ENSG00000248734.2|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Whole_Blood|Whole_Blood 0.6381 0.5249 0.5585 0.5799 0.4542 0.7164 0.7194 0.6544 0.5485 0.6481 0.5393 0.5801 0.5867 0.4689 0.7229 0.7165 0.6714 hom 2516.73 71 5 96139250 . C G 2516.73 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.8941;MQ=59.41;MQ0=0;QD=35.45;VQSLOD=9.3113;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2550,205,0 5 96139464 96139464 C T exonic ERAP1 nonsynonymous SNV ERAP1:NM_001040458:exon2:c.G166A:p.E56K,ERAP1:NM_001198541:exon2:c.G166A:p.E56K,ERAP1:NM_001349244:exon2:c.G166A:p.E56K,ERAP1:NM_016442:exon2:c.G166A:p.E56K 0.086 0.081 0.086 0.17 0.041 0.05 0.0664 0.0679 0.1614 0.1446 0.0999 0.0402 0.0573 0.0509 0.046 0.059 0.04 0.043 0.041 rs3734016 COSM4418606 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.706 0.095 T 0.004 0.135 B 0.01 0.139 B 0.036 0.246 N 1 0.090 P -0.535 0.025 N 3.71 0.041 T -0.05 0.078 N 0.059 0.071 -0.933 0.437 T 0.000 0.000 T . . . 0.872 0.177 9.899 0.903 0.190 0.036 0.087 N c -0.850 -0.697 1.000 0.434 0.706 0.609 0 2.44 0.287 -0.024 0.123 0.848 0.348 0.000 0.063 0.931 0.405 1.208 0.018 Peptidase M1\x2c membrane alanine aminopeptidase\x2c N-terminal ENSG00000248734.2|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000248734.2|ENSG00000248734.2|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8 Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Lung|Lung|Skin_Not_Sun_Exposed_Suprapubic|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.0704 0.0655 0.1513 0.0255 0.1447 0.0974 0.0393 0.0623 0.0522 0.0648 0.0695 0.1313 0.0167 0.1557 0.1029 0.0403 0.0692 het 1918.40 142 5 96139464 . C T 1918.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.110;DP=142;Dels=0.00;FS=11.072;HRun=1;HaplotypeScore=4.8600;MQ=59.21;MQ0=0;MQRankSum=-2.008;QD=13.51;ReadPosRankSum=-0.029;VQSLOD=3.3707;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,73:142:99:1948,0,2065 5 96139595 96139595 G A exonic ERAP1 nonsynonymous SNV ERAP1:NM_001040458:exon2:c.C35T:p.T12I,ERAP1:NM_001198541:exon2:c.C35T:p.T12I,ERAP1:NM_001349244:exon2:c.C35T:p.T12I,ERAP1:NM_016442:exon2:c.C35T:p.T12I 0.071 0.0053 0.16 0.004 0.14 0.096 0.1113 0.0214 0.1328 0.0061 0.1182 0.1378 0.1175 0.0977 0.098 0.024 0.14 0.043 0.15 rs72773968 . . . . . . . . . . . . . 0.04 0.450 D 0.624 0.410 P 0.206 0.418 B 0.542 0.053 N 1 0.090 P 0.805 0.203 L 5.03 0.361 T 0.25 0.061 N 0.303 0.363 -1.008 0.275 T 0.000 0.002 T . . . 1.432 0.235 12.95 0.976 0.341 0.070 0.129 N c -0.705 -0.758 1.000 0.480 0.706 0.609 0 2.49 0.291 0.505 0.222 -0.419 0.060 0.001 0.137 0.004 0.083 14.431 0.667 . ENSG00000248734.2|ENSG00000248734.2|ENSG00000248734.2|ENSG00000248734.2|ENSG00000164308.12 Breast_Mammary_Tissue|Lung|Nerve_Tibial|Thyroid|Whole_Blood 0.1122 0.0205 0.1332 0.1291 0.0044 0.1207 0.1347 0.1280 0.0997 0.0900 0.0226 0.1283 0.1258 0.0031 0.1160 0.1266 0.1367 het 1356.44 127 5 96139595 . G A 1356.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.189;DP=127;Dels=0.00;FS=4.430;HRun=0;HaplotypeScore=2.7472;MQ=59.71;MQ0=0;MQRankSum=0.265;QD=10.68;ReadPosRankSum=-0.609;VQSLOD=5.0881;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,56:127:99:1386,0,1911 5 96231000 96231000 G T exonic ERAP2 nonsynonymous SNV ERAP2:NM_001329229:exon6:c.G1041T:p.K347N,ERAP2:NM_001130140:exon7:c.G1176T:p.K392N,ERAP2:NM_022350:exon7:c.G1176T:p.K392N 0.55 0.6 0.58 0.53 0.52 0.53 0.5476 0.5763 0.6186 0.5876 0.5334 0.5198 0.5749 0.5752 0.54 0.58 0.52 0.55 0.52 rs2549782 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.460 N 0.998 0.225 P -2.385 0.001 N 4.9 0.015 T 5.23 0.000 N 0.055 0.202 -1.043 0.165 T 0.000 0.000 T . . . 0.126 0.106 3.882 0.733 0.100 0.029 0.076 N c -1.520 -1.240 0.989 0.315 0.651 0.465 0 0.68 0.171 0.181 0.166 -0.451 0.056 0.991 0.370 0.961 0.442 3.452 0.070 Peptidase M1\x2c membrane alanine aminopeptidase\x2c N-terminal ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000113441.11|ENSG00000164307.8|ENSG00000213702.2|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000113441.11|ENSG00000213702.2|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.5482 0.5747 0.6203 0.5765 0.5899 0.5251 0.5116 0.5457 0.5743 0.5347 0.5681 0.5971 0.5497 0.5829 0.5230 0.5081 0.5483 het 1309.12 108 5 96231000 . G T 1309.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.138;DP=108;Dels=0.00;FS=0.717;HRun=0;HaplotypeScore=4.2329;MQ=58.46;MQ0=0;MQRankSum=0.946;QD=12.12;ReadPosRankSum=-1.997;VQSLOD=5.1339;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,55:108:99:1339,0,1393 5 96232142 96232142 T A exonic ERAP2 synonymous SNV ERAP2:NM_001329229:exon7:c.T1170A:p.P390P,ERAP2:NM_001130140:exon8:c.T1305A:p.P435P,ERAP2:NM_022350:exon8:c.T1305A:p.P435P 0.55 0.6 0.58 0.53 0.52 0.53 0.5479 0.5786 0.6194 0.5878 0.5340 0.5198 0.5762 0.5753 0.54 0.58 0.52 0.55 0.52 rs2548538 COSM5420120 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5484 0.5741 0.6213 0.5764 0.5896 0.5252 0.5114 0.5458 0.5756 0.5345 0.5679 0.5959 0.5533 0.5817 0.5238 0.5078 0.5491 het 440.99 41 5 96232142 . T A 440.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.771;DP=41;Dels=0.00;FS=2.699;HRun=1;HaplotypeScore=2.5584;MQ=58.29;MQ0=0;MQRankSum=0.850;QD=10.76;ReadPosRankSum=0.745;VQSLOD=4.9715;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,19:41:99:471,0,617 5 96237326 96237326 G A exonic ERAP2 synonymous SNV ERAP2:NM_001329229:exon10:c.G1554A:p.Q518Q,ERAP2:NM_001130140:exon11:c.G1689A:p.Q563Q,ERAP2:NM_022350:exon11:c.G1689A:p.Q563Q 0.55 0.6 0.58 0.53 0.52 0.53 0.5478 0.5772 0.6191 0.5882 0.5340 0.5198 0.5762 0.5754 0.54 0.58 0.52 0.55 0.52 rs2287988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5484 0.5746 0.6211 0.5768 0.5897 0.5251 0.5113 0.5453 0.5755 0.5342 0.5675 0.5971 0.5570 0.5813 0.5238 0.5073 0.5479 het 1146.28 76 5 96237326 . G A 1146.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.821;DP=76;Dels=0.00;FS=8.754;HRun=1;HaplotypeScore=1.8110;MQ=58.78;MQ0=0;MQRankSum=0.197;QD=15.08;ReadPosRankSum=-1.684;VQSLOD=4.4311;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,39:76:99:1176,0,1070 5 96245343 96245343 C T exonic ERAP2 synonymous SNV ERAP2:NM_001329229:exon14:c.C2094T:p.G698G,ERAP2:NM_001130140:exon15:c.C2229T:p.G743G,ERAP2:NM_022350:exon15:c.C2229T:p.G743G 0.5 0.44 0.57 0.53 0.52 0.51 0.5330 0.4308 0.6116 0.5861 0.5331 0.5208 0.5672 0.5615 0.49 0.43 0.52 0.52 0.53 rs2549796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5370 0.4238 0.6136 0.5988 0.5890 0.5251 0.5113 0.5403 0.5620 0.4931 0.4220 0.5827 0.5833 0.5800 0.5235 0.5081 0.5407 het 2692.28 185 5 96245343 . C T 2692.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.970;DP=185;Dels=0.00;FS=3.442;HRun=1;HaplotypeScore=4.5117;MQ=59.37;MQ0=0;MQRankSum=-0.071;QD=14.55;ReadPosRankSum=0.315;VQSLOD=5.5413;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:80,105:185:99:2722,0,2231 5 96245439 96245439 C T exonic ERAP2 synonymous SNV ERAP2:NM_001329229:exon14:c.C2190T:p.S730S,ERAP2:NM_001130140:exon15:c.C2325T:p.S775S,ERAP2:NM_022350:exon15:c.C2325T:p.S775S 0.55 0.6 0.58 0.53 0.52 0.53 0.5484 0.5767 0.6196 0.5870 0.5335 0.5210 0.5773 0.5754 0.54 0.58 0.52 0.55 0.54 rs1056893 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5495 0.5748 0.6215 0.5999 0.5899 0.5251 0.5115 0.5469 0.5756 0.5352 0.5678 0.5959 0.5861 0.5798 0.5235 0.5090 0.5479 het 1049.52 82 5 96245439 . C T 1049.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.707;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5741;MQ=58.55;MQ0=0;MQRankSum=-0.915;QD=12.80;ReadPosRankSum=-0.924;VQSLOD=5.6422;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,45:82:99:1080,0,1091 5 96249115 96249115 C T exonic ERAP2 synonymous SNV ERAP2:NM_001329229:exon16:c.C2476T:p.L826L,ERAP2:NM_001130140:exon17:c.C2611T:p.L871L,ERAP2:NM_022350:exon17:c.C2611T:p.L871L 0.55 0.6 0.58 0.53 0.52 0.53 0.5488 0.5764 0.6199 0.5860 0.5335 0.5218 0.5774 0.5759 0.54 0.58 0.52 0.55 0.5 rs2255546 COSM5445221 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5491 0.5743 0.6209 0.5996 0.5887 0.5253 0.5112 0.5465 0.5754 0.5353 0.5679 0.5979 0.5861 0.5831 0.5235 0.5086 0.5480 het 858.13 81 5 96249115 . C T 858.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.198;DP=81;Dels=0.00;FS=4.256;HRun=1;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=1.216;QD=10.59;ReadPosRankSum=0.186;VQSLOD=6.0279;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,35:81:99:888,0,1427 5 96498783 96498783 G A exonic RIOK2 synonymous SNV RIOK2:NM_018343:exon10:c.C1641T:p.A547A 0.55 0.51 0.57 0.52 0.58 0.61 0.5867 0.5214 0.5504 0.5303 0.6572 0.5935 0.6031 0.6258 0.57 0.52 0.6 0.53 0.57 rs8654 COSM3765217 1(thyroid);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5894 0.5141 0.5485 0.6217 0.5364 0.6504 0.5960 0.5970 0.6222 0.5892 0.5238 0.5600 0.6067 0.5217 0.6500 0.6216 0.5881 het 540.32 44 5 96498783 . G A 540.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.480;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=58.37;MQ0=0;MQRankSum=-0.658;QD=12.28;ReadPosRankSum=-0.893;VQSLOD=6.2149;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,21:44:99:570,0,539 5 96503523 96503523 C T exonic RIOK2 nonsynonymous SNV RIOK2:NM_001159749:exon8:c.G1045A:p.G349R,RIOK2:NM_018343:exon8:c.G1045A:p.G349R 0.56 0.52 0.57 0.52 0.58 0.61 0.5864 0.5260 0.5504 0.5290 0.6569 0.5928 0.5936 0.6248 0.57 0.53 0.6 0.53 0.62 rs160632 COSM4160069;COSM4160068 1(thyroid) . . . . . . . . . . . 0.568 0.062 T 0.0 0.026 B 0.0 0.013 B 0.165 0.175 N 1 0.090 P -1.785 0.003 N 2.53 0.140 T 0.5 0.030 N 0.03 0.011 -1.003 0.290 T 0.000 0.000 T . . . 0.789 0.169 9.397 0.712 0.093 0.034 0.083 N c -1.537 -1.433 1.000 0.454 0.707 0.730 0 -0.033 0.132 -0.111 0.107 0.119 0.209 0.000 0.063 0.017 0.128 1.488 0.023 . ENSG00000058729.6|ENSG00000058729.6|ENSG00000058729.6|ENSG00000058729.6|ENSG00000058729.6 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.5903 0.5188 0.5495 0.6216 0.5372 0.6520 0.5964 0.5966 0.6222 0.5902 0.5275 0.5609 0.6026 0.5242 0.6488 0.6216 0.5888 het 3006.78 250 5 96503523 . C T 3006.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.969;DP=250;DS;Dels=0.00;FS=1.563;HRun=0;HaplotypeScore=5.0877;MQ=59.61;MQ0=0;MQRankSum=1.382;QD=12.03;ReadPosRankSum=-0.293;VQSLOD=5.3228;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,112:250:99:3037,0,3446 5 96512865 96512865 T A exonic RIOK2 synonymous SNV RIOK2:NM_001159749:exon4:c.A453T:p.L151L,RIOK2:NM_018343:exon4:c.A453T:p.L151L 0.69 0.78 0.64 0.64 0.67 0.68 0.6814 0.7790 0.5972 0.6562 0.7584 0.6725 0.6998 0.6960 0.71 0.78 0.68 0.69 0.48 rs2548319 COSM4160071;COSM4160070 1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6803 0.7765 0.6020 0.6687 0.6590 0.7554 0.6764 0.6747 0.6947 0.7177 0.7782 0.6202 0.6433 0.6380 0.7435 0.6948 0.6759 het 1942.73 136 5 96512865 . T A 1942.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.498;DP=136;Dels=0.00;FS=10.900;HRun=1;HaplotypeScore=1.8561;MQ=59.83;MQ0=0;MQRankSum=-1.314;QD=14.28;ReadPosRankSum=0.502;VQSLOD=3.7881;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,73:136:99:1973,0,1630 5 96512871 96512871 T A exonic RIOK2 synonymous SNV RIOK2:NM_001159749:exon4:c.A447T:p.S149S,RIOK2:NM_018343:exon4:c.A447T:p.S149S 0.69 0.78 0.64 0.64 0.67 0.68 0.6814 0.7790 0.5972 0.6561 0.7584 0.6725 0.6998 0.6960 0.71 0.78 0.68 0.69 0.51 rs2544772 COSM4160073;COSM4160072 1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6804 0.7765 0.6022 0.6689 0.6589 0.7555 0.6764 0.6749 0.6951 0.7176 0.7777 0.6202 0.6409 0.6372 0.7435 0.6949 0.6770 het 2147.57 142 5 96512871 . T A 2147.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.848;DP=142;Dels=0.00;FS=12.291;HRun=1;HaplotypeScore=4.6636;MQ=59.84;MQ0=0;MQRankSum=1.310;QD=15.12;ReadPosRankSum=-0.023;VQSLOD=3.3534;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,78:142:99:2178,0,1741 5 96513471 96513471 G C exonic RIOK2 nonsynonymous SNV RIOK2:NM_001159749:exon3:c.C287G:p.S96C,RIOK2:NM_018343:exon3:c.C287G:p.S96C 0.34 0.075 0.43 0.48 0.41 0.43 0.3972 0.1243 0.4455 0.4870 0.5132 0.4036 0.3733 0.4175 0.31 0.13 0.4 0.26 0.4 rs2544773 COSM3736395;COSM3736396 1(skin) . . . . . . . . . . . 0.002 0.784 D 1.0 0.899 D 0.984 0.745 D 0.000 0.843 D 0.000 0.588 P 3.825 0.957 H 3.49 0.057 T -4.69 0.797 D 0.257 0.501 -0.977 0.358 T 0.000 0.000 T . . . 6.209 0.857 28.7 0.993 0.588 0.995 0.972 D c 1.028 0.975 1.000 0.747 0.719 0.830 0 5.7 0.886 9.354 0.965 1.048 0.713 1.000 0.715 0.998 0.697 19.433 0.948 RIO kinase ENSG00000058729.6 Cells_Transformed_fibroblasts 0.4070 0.1197 0.4398 0.3497 0.4951 0.5044 0.4080 0.3973 0.4109 0.3571 0.1262 0.4173 0.3311 0.4685 0.5043 0.4383 0.4213 het 1475.05 118 5 96513471 . G C 1475.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.172;DP=118;Dels=0.00;FS=8.460;HRun=0;HaplotypeScore=0.8667;MQ=58.63;MQ0=0;MQRankSum=-1.050;QD=12.50;ReadPosRankSum=-0.258;VQSLOD=3.9133;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,59:118:99:1505,0,1556 5 101575091 101575091 C T exonic SLCO4C1 synonymous SNV SLCO4C1:NM_180991:exon12:c.G1878A:p.G626G 0.33 0.34 0.27 0.26 0.46 0.29 0.3975 0.3597 0.2302 0.2342 0.4629 0.4674 0.3949 0.3084 0.42 0.36 0.46 0.37 0.32 rs62370437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3926 0.3570 0.2419 0.4310 0.2288 0.4598 0.4638 0.4018 0.2931 0.4152 0.3601 0.2584 0.4834 0.2137 0.4597 0.4652 0.4264 het 504.24 44 5 101575091 . C T 504.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.415;DP=44;Dels=0.00;FS=1.424;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-1.138;QD=11.46;ReadPosRankSum=-1.091;VQSLOD=5.7242;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,22:44:99:534,0,641 5 101631761 101631761 T C exonic SLCO4C1 nonsynonymous SNV SLCO4C1:NM_180991:exon1:c.A206G:p.N69S 0.027 0.003 0.042 0.024 0.059 0.021 0.0386 0.0086 0.0352 0.0340 0.0194 0.0505 0.0407 0.0216 0.038 0.0098 0.052 0.011 0.033 rs76381196 . . . . . . . . . . . . . 0.663 0.046 T 0.0 0.026 B 0.0 0.013 B 0.233 0.035 N 1 0.090 N 0.345 0.112 N 1.2 0.374 T 0.29 0.042 N 0.001 0.000 -1.077 0.079 T 0.010 0.037 T . . . -1.954 0.009 0.001 0.339 0.020 0.061 0.119 N c -1.351 -1.393 1.000 0.747 0.652 0.477 0 0.017 0.134 0.316 0.191 -0.794 0.032 0.000 0.063 0.000 0.016 3.828 0.083 . . . 0.0393 0.0079 0.0375 0.0651 0.0332 0.0196 0.0511 0.0468 0.0219 0.0294 0.0091 0.0406 0.0430 0.0328 0.0189 0.0418 0.0397 het 2244.21 132 5 101631761 . T C 2244.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.482;DP=132;Dels=0.00;FS=1.454;HRun=0;HaplotypeScore=3.8697;MQ=59.37;MQ0=0;MQRankSum=0.650;QD=17.00;ReadPosRankSum=0.622;VQSLOD=5.5420;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,81:132:99:2274,0,1293 5 101631790 101631790 T G exonic SLCO4C1 synonymous SNV SLCO4C1:NM_180991:exon1:c.A177C:p.P59P 0.14 0.012 0.14 0.16 0.28 0.16 0.2181 0.0386 0.1362 0.1300 0.4188 0.2636 0.2709 0.1672 0.18 0.047 0.24 0.14 0.25 rs10479190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2201 0.0374 0.1348 0.2992 0.1301 0.4195 0.2514 0.2357 0.1681 0.2119 0.0424 0.1400 0.3245 0.1295 0.4233 0.2676 0.2780 het 776.51 94 5 101631790 . T G 776.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.161;DP=94;Dels=0.00;FS=1.967;HRun=2;HaplotypeScore=3.8193;MQ=59.51;MQ0=0;MQRankSum=1.295;QD=8.26;ReadPosRankSum=0.362;VQSLOD=5.6277;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,31:94:99:807,0,1793 5 101724448 101724448 G C exonic SLCO6A1 nonsynonymous SNV SLCO6A1:NM_001308014:exon7:c.C1202G:p.T401R,SLCO6A1:NM_001289004:exon11:c.C1775G:p.T592R,SLCO6A1:NM_001289002:exon12:c.C1961G:p.T654R,SLCO6A1:NM_173488:exon12:c.C1961G:p.T654R 0.2 0.17 0.17 0.17 0.3 0.21 0.2575 0.1718 0.1571 0.1629 0.4109 0.2936 0.3119 0.2219 0.23 0.17 0.27 0.26 0.2 rs10055840 . . . . . . . . . . . . . 0.412 0.101 T 0.001 0.182 B 0.003 0.282 B 0.038 0.018 N 1 0.090 P 0.165 0.090 N 1.27 0.361 T 1.15 0.012 N 0.067 0.094 -1.092 0.052 T 0.000 0.000 T . . . -2.504 0.003 0.001 0.270 0.013 0.004 0.022 N c -2.035 -2.169 1.000 0.747 0.487 0.133 0 -10.1 0.003 -3.026 0.007 -1.372 0.012 0.000 0.063 0.000 0.016 2.546 0.044 Major facilitator superfamily domain ENSG00000173930.8 Testis 0.2466 0.1656 0.1452 0.2922 0.1593 0.4106 0.2723 0.2586 0.2106 0.2599 0.1733 0.1667 0.3146 0.1573 0.4158 0.2874 0.2864 het 820.41 68 5 101724448 . G C 820.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.069;DP=68;Dels=0.00;FS=2.058;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=1.742;QD=12.06;ReadPosRankSum=0.610;VQSLOD=6.0258;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,36:68:99:850,0,755 5 102345546 102345546 A C exonic PAM synonymous SNV PAM:NM_138821:exon19:c.A1986C:p.I662I,PAM:NM_000919:exon20:c.A2307C:p.I769I,PAM:NM_001177306:exon20:c.A2307C:p.I769I,PAM:NM_138766:exon20:c.A2307C:p.I769I,PAM:NM_138822:exon20:c.A2307C:p.I769I,PAM:NM_001319943:exon22:c.A2361C:p.I787I 0.23 0.11 0.23 0.43 0.28 0.16 0.2598 0.1416 0.1923 0.4216 0.3192 0.2836 0.2666 0.1751 0.24 0.15 0.29 0.25 0.3 rs2230457 COSM4407105;COSM4407106;COSM4407104 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2642 0.1395 0.2047 0.2300 0.4310 0.3221 0.2911 0.2502 0.1712 0.2630 0.1396 0.2172 0.2682 0.4384 0.3232 0.3039 0.2695 het 519.51 41 5 102345546 . A C 519.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.579;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4972;MQ=58.87;MQ0=0;MQRankSum=0.575;QD=12.67;ReadPosRankSum=0.067;VQSLOD=6.2702;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,25:41:99:550,0,390 5 102433409 102433409 G A exonic GIN1 nonsynonymous SNV GIN1:NM_001317954:exon4:c.C275T:p.T92M,GIN1:NM_017676:exon5:c.C716T:p.T239M 0.24 0.13 0.22 0.45 0.28 0.14 0.2648 0.1475 0.1962 0.4330 0.3251 0.2954 0.2711 0.1466 0.25 0.14 0.3 0.32 0.36 rs34813 COSM149894 1(stomach);1(pancreas);1(liver);3(prostate) . . . . . . . . . . . 0.107 0.295 T 0.431 0.338 B 0.081 0.275 B 0.876 0.072 N 1 0.090 P 1.65 0.424 L 1.55 0.299 T 0.39 0.035 N 0.037 0.019 -0.928 0.445 T 0.000 0.000 T . . . -0.105 0.084 1.696 0.257 0.012 0.051 0.107 N c -0.997 -1.027 0.000 0.046 0.651 0.465 0 1.24 0.203 0.585 0.234 -0.366 0.067 0.053 0.213 0.001 0.043 2.504 0.043 Integrase\x2c catalytic core|Ribonuclease H-like domain ENSG00000145725.15|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145725.15|ENSG00000175749.11|ENSG00000145725.15|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145725.15|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145725.15|ENSG00000175749.11|ENSG00000145730.16|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145725.15|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145723.12|ENSG00000145725.15|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145725.15|ENSG00000145725.15|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145725.15|ENSG00000145730.16 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood 0.2690 0.1450 0.2077 0.2275 0.4406 0.3273 0.3046 0.2571 0.1458 0.2715 0.1459 0.2249 0.26 0.4473 0.3264 0.3158 0.2709 het 1725.28 138 5 102433409 . G A 1725.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.144;DP=138;Dels=0.00;FS=1.399;HRun=0;HaplotypeScore=1.9125;MQ=58.94;MQ0=0;MQRankSum=0.954;QD=12.50;ReadPosRankSum=-0.013;VQSLOD=6.7314;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,72:138:99:1755,0,1646 5 102520400 102520400 A C exonic PPIP5K2 synonymous SNV PPIP5K2:NM_001345871:exon25:c.A2950C:p.R984R,PPIP5K2:NM_001345874:exon25:c.A2950C:p.R984R,PPIP5K2:NM_001345875:exon25:c.A2950C:p.R984R,PPIP5K2:NM_001345877:exon25:c.A2947C:p.R983R,PPIP5K2:NM_001276277:exon26:c.A3124C:p.R1042R,PPIP5K2:NM_001345873:exon26:c.A3121C:p.R1041R,PPIP5K2:NM_001345876:exon26:c.A3124C:p.R1042R,PPIP5K2:NM_001345878:exon26:c.A3121C:p.R1041R,PPIP5K2:NM_015216:exon26:c.A3124C:p.R1042R 0.31 0.39 0.24 0.45 0.28 0.13 0.2847 0.3715 0.2060 0.4308 0.3294 0.2967 0.2844 0.1420 0.33 0.37 0.31 0.45 0.36 rs26821 COSM4407414;COSM4407413 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2845 0.3722 0.2165 0.2306 0.4384 0.3318 0.3051 0.2676 0.1410 0.3350 0.3626 0.2339 0.2583 0.4458 0.3304 0.3186 0.2864 het 858.75 71 5 102520400 . A C 858.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.030;DP=71;Dels=0.00;FS=4.821;HRun=0;HaplotypeScore=0.9995;MQ=58.61;MQ0=0;MQRankSum=0.040;QD=12.10;ReadPosRankSum=-0.904;VQSLOD=5.5688;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,34:71:99:889,0,922 5 102891695 102891695 A G exonic NUDT12 synonymous SNV NUDT12:NM_001300741:exon4:c.T847C:p.L283L,NUDT12:NM_031438:exon4:c.T901C:p.L301L 0.59 0.56 0.53 0.5 0.69 0.69 0.6546 0.5470 0.4879 0.5501 0.7068 0.7026 0.6689 0.6777 0.64 0.53 0.69 0.56 0.7 rs10045774 COSM4159342 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6495 0.5423 0.4967 0.7625 0.5493 0.7024 0.6961 0.6599 0.6781 0.6494 0.5405 0.5541 0.7781 0.5344 0.7090 0.7125 0.6728 het 713.30 57 5 102891695 . A G 713.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.376;DP=57;Dels=0.00;FS=1.007;HRun=0;HaplotypeScore=2.9923;MQ=58.27;MQ0=0;MQRankSum=1.285;QD=12.51;ReadPosRankSum=-1.030;VQSLOD=5.3277;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,28:57:99:743,0,728 5 102894977 102894977 T C exonic NUDT12 synonymous SNV NUDT12:NM_001300741:exon3:c.A345G:p.R115R,NUDT12:NM_031438:exon3:c.A399G:p.R133R 0.1 0.14 0.15 0.013 0.16 0.04 0.1330 0.1264 0.1049 0.0074 0.1324 0.1669 0.1597 0.0751 0.15 0.13 0.17 0.087 0.2 rs7734923 COSM3760855 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1294 0.1243 0.1173 0.2337 0.0080 0.1250 0.1606 0.1476 0.0649 0.1324 0.1248 0.1331 0.2550 0.0068 0.1202 0.1504 0.1391 het 646.94 51 5 102894977 . T C 646.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.046;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;MQRankSum=-1.554;QD=12.69;ReadPosRankSum=-0.104;VQSLOD=5.7799;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,25:51:99:677,0,744 5 102895124 102895124 G A exonic NUDT12 synonymous SNV NUDT12:NM_001300741:exon3:c.C198T:p.D66D,NUDT12:NM_031438:exon3:c.C252T:p.D84D 0.1 0.14 0.15 0.013 0.16 0.041 0.1327 0.1274 0.1049 0.0074 0.1321 0.1675 0.1582 0.0721 0.15 0.12 0.17 0.087 0.2 rs7723689 COSM3760856 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1313 0.1247 0.1186 0.2409 0.0081 0.1259 0.1625 0.1512 0.0671 0.1325 0.1249 0.1352 0.2550 0.0068 0.1198 0.1503 0.1408 het 332.13 72 5 102895124 . G A 332.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.518;DP=72;Dels=0.00;FS=3.915;HRun=0;HaplotypeScore=0.0000;MQ=58.24;MQ0=0;MQRankSum=0.423;QD=4.61;ReadPosRankSum=-0.579;VQSLOD=3.1115;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,18:72:99:362,0,1456 5 108281909 108281909 C G exonic FER nonsynonymous SNV FER:NM_001308031:exon2:c.C208G:p.L70V,FER:NM_001308028:exon9:c.C790G:p.L264V,FER:NM_005246:exon11:c.C1315G:p.L439V 0.058 0.0045 0.026 0.086 0.054 0.13 0.0592 0.0099 0.0176 0.0657 0.1127 0.0564 0.0695 0.1047 0.04 0.0095 0.056 0.043 0.057 rs2229086 . . . . . . . . . . . . . 0.196 0.207 T 0.321 0.313 B 0.03 0.205 B 0.007 0.318 N 0.038 0.487 P 2.395 0.694 M -1.03 0.764 T -0.79 0.219 N 0.066 0.052 -0.983 0.343 T 0.019 0.081 T . . . 0.132 0.106 3.947 0.544 0.050 0.555 0.296 D c -0.699 -0.718 0.002 0.086 0.638 0.428 0 0.156 0.141 -0.081 0.112 0.892 0.403 0.790 0.294 0.824 0.344 4.882 0.130 F-BAR domain|FCH domain . . 0.0590 0.0090 0.0156 0.0543 0.0625 0.1114 0.0557 0.0569 0.1062 0.0540 0.0097 0.0155 0.0563 0.0433 0.1076 0.0687 0.0837 het 1556.07 130 5 108281909 . C G 1556.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.186;DP=130;Dels=0.00;FS=4.249;HRun=0;HaplotypeScore=0.7887;MQ=58.43;MQ0=0;MQRankSum=-1.595;QD=11.97;ReadPosRankSum=2.205;VQSLOD=3.6846;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,64:130:99:1586,0,1691 5 108672946 108672946 C T exonic PJA2 nonsynonymous SNV PJA2:NM_014819:exon10:c.G2113A:p.A705T 0.3 0.12 0.28 0.56 0.25 0.35 0.2756 0.1556 0.2609 0.6094 0.2590 0.2430 0.2566 0.3259 0.21 0.16 0.23 0.23 0.25 rs246105 COSM4407229 1(liver) . . . . . . . . . . . 0.046 0.405 D 0.0 0.026 B 0.0 0.013 B 0.387 0.133 N 1.000 0.195 P 1.04 0.263 L 2.8 0.111 T -0.42 0.142 N 0.016 0.003 -0.998 0.306 T 0.000 0.000 T . . . 3.155 0.439 22.6 0.975 0.340 0.036 0.088 N c -0.910 -0.867 0.981 0.302 0.732 0.924 0 0.451 0.158 -0.010 0.126 0.071 0.179 0.152 0.235 0.001 0.043 3.747 0.080 . ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood 0.2758 0.1547 0.2680 0.2873 0.6038 0.2590 0.2361 0.2516 0.3178 0.2377 0.1568 0.2794 0.3212 0.5850 0.2646 0.2357 0.2597 het 1103.22 147 5 108672946 . C T 1103.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.231;DP=147;Dels=0.00;FS=2.245;HRun=0;HaplotypeScore=3.6560;MQ=58.86;MQ0=0;MQRankSum=0.187;QD=7.50;ReadPosRankSum=-1.806;VQSLOD=4.9250;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,54:147:99:1133,0,2283 5 108713970 108713970 C T exonic PJA2 synonymous SNV PJA2:NM_014819:exon4:c.G1218A:p.E406E 0.68 0.87 0.64 0.44 0.74 0.65 0.6984 0.8209 0.6070 0.3815 0.6699 0.7462 0.7104 0.6683 0.77 0.81 0.76 0.74 0.72 rs10042721 COSM4003251 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6921 0.8210 0.6064 0.7119 0.3844 0.6708 0.7535 0.7181 0.6759 0.7373 0.8212 0.6289 0.6733 0.4024 0.6701 0.7495 0.7065 het 1513.30 103 5 108713970 . C T 1513.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.114;DP=103;Dels=0.00;FS=4.978;HRun=1;HaplotypeScore=4.0802;MQ=58.73;MQ0=0;MQRankSum=0.127;QD=14.69;ReadPosRankSum=-1.152;VQSLOD=4.9800;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,54:103:99:1543,0,1473 5 108713982 108713982 T C exonic PJA2 synonymous SNV PJA2:NM_014819:exon4:c.A1206G:p.A402A 0.33 0.064 0.47 0.057 0.59 0.58 0.4998 0.1438 0.4860 0.0444 0.5796 0.5822 0.5607 0.6043 0.45 0.16 0.59 0.23 0.49 rs12523186 COSM4159349 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5071 0.1371 0.4801 0.5218 0.0419 0.5816 0.5906 0.5542 0.6114 0.4315 0.1436 0.4819 0.5166 0.0408 0.5759 0.5944 0.5673 het 1674.37 110 5 108713982 . T C 1674.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.350;DP=110;Dels=0.00;FS=3.617;HRun=2;HaplotypeScore=2.6556;MQ=58.60;MQ0=0;MQRankSum=0.913;QD=15.22;ReadPosRankSum=-0.320;VQSLOD=5.3972;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,58:110:99:1704,0,1490 5 108714298 108714298 T C exonic PJA2 nonsynonymous SNV PJA2:NM_014819:exon4:c.A890G:p.Q297R 0.32 0.064 0.47 0.057 0.59 0.56 0.4965 0.1436 0.4844 0.0443 0.5797 0.5809 0.5518 0.5872 0.44 0.16 0.59 0.23 0.49 rs1045706 COSM4003252 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.648 0.049 T 0.001 0.067 B 0.001 0.040 B 0.035 0.247 N 1.000 0.090 P 1.355 0.339 L 3.43 0.055 T -0.32 0.123 N 0.05 0.031 -0.921 0.454 T 0.000 0.000 T . . . -1.419 0.019 0.003 0.281 0.014 0.222 0.214 N c -0.836 -0.752 0.779 0.238 0.707 0.730 0 2.88 0.325 0.426 0.209 0.143 0.228 0.138 0.233 0.043 0.159 1.742 0.028 . ENSG00000198961.5|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000198961.5|ENSG00000249476.1|ENSG00000198961.5|ENSG00000249476.1|ENSG00000198961.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.5042 0.1369 0.4788 0.5217 0.0418 0.5815 0.5894 0.5511 0.5947 0.4307 0.1428 0.4809 0.5166 0.0408 0.5758 0.5932 0.5673 het 1934.34 154 5 108714298 . T C 1934.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.497;DP=154;Dels=0.00;FS=3.142;HRun=0;HaplotypeScore=1.6498;MQ=59.70;MQ0=0;MQRankSum=-0.257;QD=12.56;ReadPosRankSum=-0.502;VQSLOD=6.6234;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,79:154:99:1964,0,2044 5 109117171 109117171 A G exonic MAN2A1 synonymous SNV MAN2A1:NM_002372:exon9:c.A1449G:p.Q483Q 0.28 0.058 0.24 0.62 0.15 0.38 0.2369 0.0738 0.2503 0.6521 0.225 0.1761 0.2778 0.3620 0.14 0.072 0.17 0.24 0.12 rs13189822 COSM4409165 2(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2368 0.0731 0.2361 0.1710 0.6543 0.2218 0.1729 0.1995 0.3572 0.1893 0.0792 0.2213 0.1457 0.6434 0.2360 0.1910 0.2177 het 776.86 56 5 109117171 . A G 776.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.341;DP=56;Dels=0.00;FS=2.258;HRun=0;HaplotypeScore=0.0000;MQ=57.12;MQ0=0;MQRankSum=0.288;QD=13.87;ReadPosRankSum=-0.895;VQSLOD=4.4923;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,30:56:99:807,0,636 5 109181682 109181682 A T exonic MAN2A1 synonymous SNV MAN2A1:NM_002372:exon18:c.A2817T:p.S939S 0.75 0.9 0.64 0.88 0.61 0.61 0.6546 0.8710 0.6227 0.9058 0.6338 0.6087 0.6189 0.6044 0.7 0.86 0.62 0.75 0.58 rs3186988 COSM3760861 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6461 0.8757 0.6223 0.5466 0.9061 0.6182 0.6093 0.6151 0.6029 0.7027 0.8661 0.6265 0.5467 0.9225 0.6275 0.6144 0.6196 hom 6101.19 196 5 109181682 . A T 6101.19 Mask AC=2;AF=1.00;AN=2;DP=196;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.3626;MQ=59.04;MQ0=0;QD=31.13;VQSLOD=8.1085;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,196:196:99:6101,466,0 5 109190936 109190938 CTC - exonic MAN2A1 nonframeshift deletion MAN2A1:NM_002372:exon20:c.3072_3074del:p.S1026del 0.27 0.042 0.25 0.61 0.15 0.36 0.2327 0.0624 0.2446 0.6398 0.2233 0.1792 0.2566 0.3366 0.18 0.11 0.21 . . rs3217225 COSM5829992 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2232 0.0580 0.2220 0.1638 0.6280 0.2167 0.1711 0.1834 0.3193 0.1866 0.0659 0.2267 0.1490 0.6341 0.2347 0.1947 0.2163 het 1357.61 82 5 109190935 . TCTC T 1357.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.711;DP=82;FS=0.000;HRun=0;HaplotypeScore=320.1485;MQ=58.02;MQ0=0;MQRankSum=2.212;QD=16.56;ReadPosRankSum=0.641;set=variant2 GT:AD:DP:GQ:PL 0/1:49,33:82:99:1397,0,2857 5 110819753 110819753 G C exonic CAMK4 synonymous SNV CAMK4:NM_001323376:exon9:c.G420C:p.S140S,CAMK4:NM_001323377:exon10:c.G420C:p.S140S,CAMK4:NM_001744:exon11:c.G1011C:p.S337S,CAMK4:NM_001323374:exon12:c.G1011C:p.S337S,CAMK4:NM_001323375:exon12:c.G1011C:p.S337S 0.73 0.97 0.72 0.53 0.78 0.58 0.7600 0.9436 0.6403 0.5534 0.8338 0.7927 0.7616 0.6651 0.84 0.94 0.79 0.75 0.73 rs25925 COSM3760867 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7502 0.9489 0.6499 0.7444 0.5585 0.8238 0.7979 0.7552 0.6416 0.8333 0.9529 0.6874 0.7318 0.5514 0.8339 0.8065 0.7949 het 1548.75 115 5 110819753 . G C 1548.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.854;DP=115;Dels=0.00;FS=12.562;HRun=1;HaplotypeScore=3.5944;MQ=59.11;MQ0=0;MQRankSum=0.912;QD=13.47;ReadPosRankSum=0.768;VQSLOD=4.0830;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,54:115:99:1579,0,1513 5 112162854 112162854 T C exonic APC synonymous SNV APC:NM_001127511:exon10:c.T1404C:p.Y468Y,APC:NM_000038:exon12:c.T1458C:p.Y486Y,APC:NM_001127510:exon13:c.T1458C:p.Y486Y 0.51 0.16 0.67 0.66 0.58 0.64 0.5780 0.2053 0.7159 0.6791 0.5059 0.5906 0.5916 0.6412 0.46 0.21 0.59 0.43 0.58 rs2229992 COSM1432175 1(thyroid);2(large_intestine) Benign|other|Benign|Benign not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders RCV000035064.9|RCV000074147.1|RCV000131423.2|RCV000275522.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen CN169374|CN029768|C0027672:699346009|CN239210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5854 0.1944 0.6995 0.5644 0.6740 0.5068 0.5930 0.6071 0.6384 0.4692 0.2085 0.6579 0.5894 0.6538 0.5003 0.5762 0.5430 het 1430.68 125 5 112162854 . T C 1430.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.718;DP=125;Dels=0.00;FS=8.975;HRun=0;HaplotypeScore=0.9973;MQ=58.88;MQ0=0;MQRankSum=1.495;QD=11.45;ReadPosRankSum=1.122;VQSLOD=4.6506;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,55:125:99:1461,0,1770 5 112164561 112164561 G A exonic APC synonymous SNV APC:NM_001127511:exon12:c.G1581A:p.A527A,APC:NM_000038:exon14:c.G1635A:p.A545A,APC:NM_001127510:exon15:c.G1635A:p.A545A 0.67 0.52 0.72 0.82 0.6 0.75 0.6481 0.5365 0.7478 0.8230 0.5574 0.6170 0.6432 0.7196 0.59 0.53 0.62 0.7 0.54 rs351771 COSM3760868 1(large_intestine) Benign|other|Benign|Benign|Benign not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders|Familial_adenomatous_polyposis_1 RCV000035066.9|RCV000074153.1|RCV000162371.1|RCV000375983.1|RCV000411329.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen|MedGen:OMIM CN169374|CN029768|C0027672:699346009|CN239210|C2713442:175100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6493 0.5317 0.7344 0.5806 0.8218 0.5595 0.6193 0.6551 0.7132 0.5927 0.5342 0.6926 0.5894 0.8064 0.5564 0.6048 0.6212 het 1005.45 90 5 112164561 . G A 1005.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.420;DP=90;Dels=0.00;FS=3.636;HRun=1;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;MQRankSum=0.804;QD=11.17;ReadPosRankSum=-0.107;VQSLOD=6.4797;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,37:90:99:1035,0,1234 5 112175770 112175770 G A exonic APC synonymous SNV APC:NM_001127511:exon14:c.G4425A:p.T1475T,APC:NM_000038:exon16:c.G4479A:p.T1493T,APC:NM_001127510:exon17:c.G4479A:p.T1493T 0.67 0.52 0.72 0.82 0.6 0.74 0.6486 0.5370 0.7486 0.8227 0.5590 0.6172 0.6432 0.7186 0.59 0.53 0.62 0.7 0.67 rs41115 COSM3760869 1(breast);16(soft_tissue);2(large_intestine) Benign|other|Benign|Benign not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders RCV000035071.9|RCV000074234.1|RCV000162372.1|RCV000383485.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen CN169374|CN029768|C0027672:699346009|CN239210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6496 0.5330 0.7351 0.5816 0.8217 0.5600 0.6193 0.6567 0.7125 0.5933 0.5356 0.6918 0.5927 0.8082 0.5563 0.6050 0.6209 het 900.83 93 5 112175770 . G A 900.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.723;DP=93;Dels=0.00;FS=2.790;HRun=0;HaplotypeScore=7.0212;MQ=58.59;MQ0=0;MQRankSum=-1.465;QD=9.69;ReadPosRankSum=-0.442;VQSLOD=3.8285;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,38:93:99:931,0,1589 5 112176325 112176325 G A exonic APC synonymous SNV APC:NM_001127511:exon14:c.G4980A:p.G1660G,APC:NM_000038:exon16:c.G5034A:p.G1678G,APC:NM_001127510:exon17:c.G5034A:p.G1678G 0.67 0.52 0.72 0.82 0.6 0.74 0.6514 0.5418 0.7501 0.8236 0.5604 0.6214 0.6475 0.7185 0.59 0.53 0.62 0.7 0.66 rs42427 COSM3760870 1(large_intestine) Benign|other|Benign|Benign not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders RCV000035074.9|RCV000074235.1|RCV000162373.1|RCV000390083.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen CN169374|CN029768|C0027672:699346009|CN239210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6524 0.5352 0.7377 0.5822 0.8219 0.5610 0.6240 0.6594 0.7124 0.5956 0.5373 0.6950 0.5927 0.8068 0.5573 0.6082 0.6255 het 345.75 43 5 112176325 . G A 345.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.489;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.46;MQ0=0;MQRankSum=0.754;QD=8.04;ReadPosRankSum=-1.335;VQSLOD=6.1475;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,13:43:99:376,0,773 5 112176559 112176559 T G exonic APC synonymous SNV APC:NM_001127511:exon14:c.T5214G:p.S1738S,APC:NM_000038:exon16:c.T5268G:p.S1756S,APC:NM_001127510:exon17:c.T5268G:p.S1756S 0.67 0.52 0.72 0.82 0.6 0.75 0.6508 0.5388 0.7491 0.8223 0.5603 0.6207 0.6430 0.7194 0.59 0.53 0.62 0.7 0.67 rs866006 . . Likely benign|Benign|Likely benign\x2cBenign|other|Benign|Benign Hereditary_cancer-predisposing_syndrome|not_specified|Familial_adenomatous_polyposis_1\x2cnot_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders RCV000166360.1|RCV000424383.1|RCV000468969.1\x2cRCV000035076.9|RCV000074236.1|RCV000162374.1|RCV000359973.1 MedGen:SNOMED_CT|MedGen|MedGen:OMIM\x2cMedGen|MedGen|MedGen:SNOMED_CT|MedGen C0027672:699346009|CN169374|C2713442:175100\x2cCN169374|CN029768|C0027672:699346009|CN239210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6513 0.5340 0.7355 0.5915 0.8213 0.5610 0.6215 0.6570 0.7132 0.5942 0.5361 0.6933 0.5993 0.8055 0.5574 0.6065 0.6214 het 457.29 38 5 112176559 . T G 457.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.652;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=60.00;MQ0=0;MQRankSum=-0.365;QD=12.03;ReadPosRankSum=-0.453;VQSLOD=6.7186;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,18:38:99:487,0,538 5 112176756 112176756 T A exonic APC nonsynonymous SNV APC:NM_001127511:exon14:c.T5411A:p.V1804D,APC:NM_000038:exon16:c.T5465A:p.V1822D,APC:NM_001127510:exon17:c.T5465A:p.V1822D 0.87 0.99 0.82 0.9 0.77 0.8 0.7981 0.9566 0.8304 0.9018 0.6886 0.7685 0.7610 0.7869 0.83 0.95 0.77 0.92 0.75 rs459552 COSM3760871 1(large_intestine) Benign|Benign|Benign|other|Benign|Benign\x2cUncertain significance|Uncertain significance Familial_adenomatous_polyposis_1|not_provided|not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders\x2cHereditary_cancer-predisposing_syndrome|Familial_adenomatous_polyposis_1 RCV000020089.2|RCV000034393.1|RCV000035078.10|RCV000074239.1|RCV000132160.2|RCV000358689.1\x2cRCV000216852.1|RCV000471267.1 MedGen:OMIM|MedGen|MedGen|MedGen|MedGen:SNOMED_CT|MedGen\x2cMedGen:SNOMED_CT|MedGen:OMIM C2713442:175100|CN221809|CN169374|CN029768|C0027672:699346009|CN239210\x2cC0027672:699346009|C2713442:175100 . . . . . . 0.672 0.045 T 0.0 0.026 B 0.0 0.013 B 0.000 0.469 N 0.981 0.250 P -0.895 0.014 N -2.3 0.877 D 0.59 0.026 N 0.147 0.174 -0.947 0.415 T 0.000 0.000 T . . . 1.486 0.241 13.24 0.809 0.129 0.050 0.107 N c -0.653 -0.403 0.017 0.130 0.732 0.924 0 3.59 0.401 2.360 0.436 -0.197 0.102 0.997 0.399 0.991 0.552 9.399 0.374 . . . 0.7938 0.9595 0.8279 0.7662 0.9030 0.6885 0.7708 0.7891 0.7816 0.8113 0.9616 0.8062 0.7767 0.8937 0.6910 0.7465 0.7719 het 540.21 34 5 112176756 . T A 540.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.820;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.52;MQ0=0;MQRankSum=1.387;QD=15.89;ReadPosRankSum=0.090;VQSLOD=6.8932;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,22:34:99:570,0,310 5 112177171 112177171 G A exonic APC synonymous SNV APC:NM_001127511:exon14:c.G5826A:p.P1942P,APC:NM_000038:exon16:c.G5880A:p.P1960P,APC:NM_001127510:exon17:c.G5880A:p.P1960P 0.67 0.52 0.72 0.82 0.6 0.74 0.6488 0.5414 0.7483 0.8224 0.5593 0.6175 0.6446 0.7179 0.59 0.53 0.62 0.7 0.66 rs465899 COSM3760872 1(breast);2(large_intestine) Benign|other|Benign|Benign not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders RCV000035080.9|RCV000074242.1|RCV000162375.1|RCV000270059.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen CN169374|CN029768|C0027672:699346009|CN239210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6497 0.5369 0.7350 0.5819 0.8218 0.5602 0.6193 0.6567 0.7119 0.5952 0.5409 0.6938 0.5927 0.8097 0.5564 0.6055 0.6224 het 594.65 43 5 112177171 . G A 594.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.733;DP=43;Dels=0.00;FS=4.591;HRun=0;HaplotypeScore=0.9789;MQ=58.48;MQ0=0;MQRankSum=-1.227;QD=13.83;ReadPosRankSum=0.765;VQSLOD=4.9160;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,21:43:99:625,0,594 5 112312676 112312676 T C exonic DCP2 nonsynonymous SNV DCP2:NM_001242377:exon1:c.T46C:p.F16L,DCP2:NM_152624:exon1:c.T46C:p.F16L 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.97 rs33555 COSM4591842 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 5518.65 173 5 112312676 . T C 5518.65 Mask AC=2;AF=1.00;AN=2;DP=173;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1099;MQ=58.91;MQ0=0;QD=31.90;VQSLOD=8.1739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5518,436,0 5 112328377 112328377 A G exonic DCP2 synonymous SNV DCP2:NM_001242377:exon4:c.A342G:p.L114L,DCP2:NM_152624:exon4:c.A342G:p.L114L 0.77 0.8 0.78 0.76 0.75 0.75 0.7585 0.8189 0.7640 0.7893 0.7037 0.7550 0.7395 0.7372 0.78 0.82 0.76 0.77 0.65 rs3733969 COSM4408461 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7490 0.8169 0.7465 0.7866 0.7857 0.6991 0.7475 0.7467 0.7310 0.7545 0.8263 0.7506 0.7550 0.7611 0.7069 0.7256 0.7204 hom 2400.73 78 5 112328377 . A G 2400.73 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=30.78;VQSLOD=9.2848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2434,184,0 5 112349070 112349070 T C exonic DCP2 synonymous SNV DCP2:NM_001242377:exon10:c.T1047C:p.A349A,DCP2:NM_152624:exon11:c.T1152C:p.A384A 0.78 0.84 0.78 0.78 0.74 0.75 0.7559 0.8525 0.7604 0.7975 0.6775 0.7483 0.7302 0.7340 0.79 0.85 0.76 0.79 0.73 rs9326869 COSM4159365 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7519 0.8563 0.7557 0.7524 0.7973 0.6772 0.7494 0.7450 0.7346 0.7619 0.8618 0.7536 0.7053 0.7673 0.6816 0.7263 0.7184 hom 6004.70 193 5 112349070 . T C 6004.70 Mask AC=2;AF=1.00;AN=2;DP=193;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8109;MQ=58.95;MQ0=0;QD=31.11;VQSLOD=8.2435;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,193:193:99:6004,475,0 5 112379289 112379289 G A exonic MCC synonymous SNV MCC:NM_002387:exon15:c.C2124T:p.A708A,MCC:NM_001085377:exon17:c.C2694T:p.A898A . . . . . . 0.5302 0.4281 0.6387 0.6357 0.4735 0.5096 0.5232 0.5691 0.49 0.44 0.51 0.5 0.52 rs2227948 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5341 0.4264 0.6303 0.5693 0.6389 0.4731 0.5041 0.5349 0.5658 0.4790 0.4308 0.6196 0.5563 0.6205 0.4779 0.4817 0.4949 hom 2253.65 72 5 112379289 . G A 2253.65 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9789;MQ=58.15;MQ0=0;QD=31.30;VQSLOD=7.8625;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:72:99:2287,175,0 5 112384802 112384802 G A exonic MCC synonymous SNV MCC:NM_002387:exon14:c.C2073T:p.D691D,MCC:NM_001085377:exon16:c.C2643T:p.D881D 0.86 0.59 0.95 0.94 0.96 0.98 0.9420 0.6211 0.9720 0.9481 0.9406 0.9753 0.9636 0.9848 0.86 0.63 0.97 0.79 0.97 rs6594664 COSM4159366;COSM4159367 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9480 0.6145 0.9678 0.9839 0.9464 0.9425 0.9751 0.9633 0.9852 0.8631 0.6092 0.9523 0.9868 0.9462 0.9419 0.9703 0.9418 hom 7247.20 234 5 112384802 . G A 7247.20 Mask AC=2;AF=1.00;AN=2;DP=234;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6159;MQ=60.56;MQ0=0;QD=30.97;VQSLOD=7.7362;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,234:234:99:7246,602,0 5 112399791 112399791 G A exonic MCC synonymous SNV MCC:NM_002387:exon12:c.C1533T:p.N511N,MCC:NM_001085377:exon14:c.C2103T:p.N701N 0.51 0.14 0.67 0.63 0.66 0.63 0.6034 0.2045 0.6806 0.6684 0.5939 0.6402 0.6145 0.6192 0.5 0.21 0.64 0.4 0.57 rs2227947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6093 0.1923 0.6755 0.6307 0.6662 0.5983 0.6357 0.6280 0.6148 0.4991 0.2034 0.6504 0.6060 0.6553 0.5970 0.6152 0.5878 hom 4382.09 134 5 112399791 . G A 4382.09 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=59.50;MQ0=0;QD=32.70;VQSLOD=8.8618;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4382,352,0 5 112439941 112439941 T C exonic MCC nonsynonymous SNV MCC:NM_002387:exon5:c.A569G:p.K190R,MCC:NM_001085377:exon7:c.A1139G:p.K380R 0.99 0.98 1. 1. 1. 1. 0.9981 0.9788 0.9996 1 1 1.0000 0.9978 1 0.99 0.98 1. 0.99 0.98 rs6594681 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P 0.205 0.094 N -1.24 0.790 T -0.17 0.144 N 0.2 0.398 -0.963 0.386 T 0.000 0.000 T . . . 1.926 0.292 15.75 0.217 0.008 0.140 0.180 N c -0.519 -0.273 1.000 0.517 0.563 0.310 0 5.26 0.734 4.622 0.607 0.016 0.142 1.000 0.715 0.996 0.625 14.089 0.644 . . . 0.9986 0.9792 0.9991 1 1 1 1.0000 0.9991 1 0.9934 0.9766 0.9988 1 1 1 1 1 hom 8526.07 248 5 112439941 . T C 8526.07 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8920;MQ=59.48;MQ0=0;QD=34.38;VQSLOD=9.4366;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,247:248:99:8525,668,0 5 112479004 112479004 T C exonic MCC synonymous SNV MCC:NM_002387:exon3:c.A225G:p.T75T,MCC:NM_001085377:exon5:c.A795G:p.T265T 0.99 0.98 1. 1. 1. 1. 0.9984 0.9828 0.9990 0.9997 1 1.0000 0.9989 1 0.99 0.99 1. 1. 1. rs2227949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9986 0.9820 0.9987 1 0.9996 1 1.0000 0.9991 0.9999 0.9953 0.9837 0.9988 1 0.9994 1 1 0.9980 hom 3170.30 99 5 112479004 . T C 3170.30 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.77;MQ0=0;QD=32.02;VQSLOD=8.9854;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3203,262,0 5 112770027 112770027 T G exonic TSSK1B synonymous SNV TSSK1B:NM_032028:exon1:c.A510C:p.A170A 0.051 0.02 0.032 0.029 0.12 0.055 0.0997 0.0344 0.0378 0.0178 0.2384 0.1231 0.1222 0.0759 0.09 0.035 0.12 0.033 . rs26980 COSM4406921;COSM4406920 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1005 0.0315 0.0407 0.0996 0.0175 0.2402 0.1201 0.0976 0.0756 0.1100 0.0328 0.0525 0.0828 0.0204 0.2305 0.1381 0.1418 hom 3545.60 98 5 112770027 . T G 3545.60 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.15;MQ0=0;QD=36.18;VQSLOD=9.8066;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3545,280,0 5 112929013 112929013 T A exonic YTHDC2 nonsynonymous SNV YTHDC2:NM_001345976:exon27:c.T3326A:p.L1109Q,YTHDC2:NM_001345975:exon28:c.T3740A:p.L1247Q,YTHDC2:NM_022828:exon29:c.T4226A:p.L1409Q 0.57 0.97 0.59 0.32 0.5 0.36 0.5271 0.9090 0.6612 0.3049 0.5406 0.5027 0.4956 0.4039 0.64 0.9 0.51 0.71 0.48 rs1132528 COSM3760886 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.537 N 1.000 0.205 P -1.505 0.005 N 1.65 0.276 T 1.67 0.006 N 0.072 0.061 -0.949 0.413 T 0.000 0.000 T . . . 1.908 0.290 15.64 0.337 0.020 0.088 0.145 N c -0.708 -0.396 0.947 0.277 0.706 0.609 0 5.98 0.971 2.409 0.440 0.242 0.267 1.000 0.715 1.000 0.888 10.669 0.448 YTH domain ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11 Adipose_Visceral_Omentum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.5250 0.9148 0.6483 0.3651 0.3041 0.5354 0.5149 0.4998 0.4054 0.6275 0.9060 0.6325 0.3642 0.3456 0.5195 0.5308 0.5441 hom 1627.56 53 5 112929013 . T A 1627.56 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.98;MQ0=0;QD=30.71;VQSLOD=8.9109;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1661,129,0 5 113698544 113698544 G C exonic KCNN2 synonymous SNV KCNN2:NM_021614:exon1:c.G72C:p.L24L 0.54 0.34 0.53 0.85 0.46 0.57 0.5110 0.3801 0.5562 0.8605 0.4809 0.4610 0.4975 0.5741 0.42 0.37 0.45 0.3 0.38 rs40179 COSM3760887;COSM3760888 1(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5112 0.3648 0.5573 0.4657 0.8619 0.4697 0.4524 0.4801 0.5743 0.4563 0.3671 0.5120 0.4295 0.8727 0.4640 0.4563 0.4928 het 156.45 28 5 113698544 . G C 156.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.297;DP=28;Dels=0.00;FS=1.637;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-0.432;QD=5.59;ReadPosRankSum=-0.280;VQSLOD=4.0255;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,8:28:99:186,0,594 5 113829121 113829121 A G exonic KCNN2 synonymous SNV KCNN2:NM_170775:exon5:c.A360G:p.E120E,KCNN2:NM_001278204:exon6:c.A360G:p.E120E,KCNN2:NM_021614:exon7:c.A1404G:p.E468E 0.97 0.9 0.99 1. 1. 1. 0.9917 0.9084 0.9964 1 1 0.9998 0.9967 0.9999 0.97 0.91 1. 0.95 0.98 rs1841251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9934 0.9057 0.9962 1 1 1 0.9998 0.9965 0.9998 0.9730 0.9061 0.9928 1 1 1 0.9995 0.9969 hom 3300.03 107 5 113829121 . A G 3300.03 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7452;MQ=59.55;MQ0=0;QD=30.84;VQSLOD=8.8844;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3300,250,0 5 114462355 114462355 C T exonic TRIM36 nonsynonymous SNV TRIM36:NM_001300752:exon9:c.G1567A:p.D523N,TRIM36:NM_001300759:exon10:c.G1996A:p.D666N,TRIM36:NM_018700:exon10:c.G2032A:p.D678N 0.94 0.87 0.96 0.93 0.96 0.99 0.9495 0.8819 0.9851 0.9297 0.9333 0.9480 0.9657 0.9889 0.93 0.88 0.95 0.9 0.97 rs2974617 COSM1178499 1(prostate) . . . . . . . . . . . 0.462 0.087 T 0.0 0.026 B 0.0 0.040 B 0.024 0.264 N 1 0.090 P 0 0.065 N 0.23 0.597 T 0.79 0.019 N 0.046 0.026 -1.006 0.282 T 0.000 0.000 T . . . 0.777 0.168 9.323 0.947 0.248 0.039 0.092 N c -1.044 -0.977 0.000 0.052 0.554 0.246 0 1.04 0.191 0.376 0.201 -0.215 0.099 0.000 0.063 0.829 0.346 11.233 0.480 B30.2/SPRY domain|Butyrophylin-like|Concanavalin A-like lectin/glucanase domain . . 0.9533 0.8833 0.9841 0.9849 0.9279 0.9318 0.9489 0.9597 0.9892 0.9283 0.8866 0.9797 0.9868 0.9259 0.9347 0.9457 0.9532 het 990.55 79 5 114462355 . C T 990.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.103;DP=79;Dels=0.00;FS=1.865;HRun=1;HaplotypeScore=1.9972;MQ=58.88;MQ0=0;MQRankSum=1.456;QD=12.54;ReadPosRankSum=0.034;VQSLOD=6.1833;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,39:79:99:1021,0,1175 5 114480364 114480364 C T exonic TRIM36 synonymous SNV TRIM36:NM_001300752:exon3:c.G237A:p.L79L,TRIM36:NM_001300759:exon4:c.G666A:p.L222L,TRIM36:NM_018700:exon4:c.G702A:p.L234L 0.34 0.58 0.29 0.43 0.079 0.23 0.1953 0.5289 0.3196 0.3883 0.1342 0.1017 0.1468 0.2021 0.24 0.52 0.097 0.37 0.074 rs7716270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1920 0.5381 0.3104 0.0788 0.3998 0.1332 0.0991 0.1538 0.1977 0.2503 0.5406 0.2864 0.0629 0.3995 0.1193 0.1054 0.1385 het 1466.58 111 5 114480364 . C T 1466.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.753;DP=111;Dels=0.00;FS=7.974;HRun=0;HaplotypeScore=1.8268;MQ=58.72;MQ0=0;MQRankSum=-0.535;QD=13.21;ReadPosRankSum=-1.374;VQSLOD=4.6592;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,59:111:99:1497,0,1405 5 115298378 115298378 C T exonic LVRN synonymous SNV LVRN:NM_173800:exon1:c.C64T:p.L22L 0.78 0.85 0.81 0.75 0.78 0.67 0.7832 0.8492 0.7666 0.7527 0.8202 0.8068 0.7786 0.6711 0.84 0.86 0.82 0.26 0.67 rs10062297 COSM1130961 1(prostate);2(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7826 0.8484 0.7750 0.7796 0.7576 0.8242 0.8072 0.7809 0.6623 0.8251 0.8480 0.7596 0.79 0.7804 0.8214 0.8233 0.8033 het 578.45 58 5 115298378 . C T 578.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.851;DP=58;Dels=0.00;FS=2.415;HRun=1;HaplotypeScore=2.5210;MQ=58.84;MQ0=0;MQRankSum=-1.258;QD=9.97;ReadPosRankSum=-0.264;VQSLOD=4.9004;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,27:58:99:608,0,787 5 115298475 115298475 T C exonic LVRN nonsynonymous SNV LVRN:NM_173800:exon1:c.T161C:p.L54S 0.77 0.85 0.8 0.75 0.78 0.66 0.7815 0.8438 0.7660 0.7467 0.8175 0.8045 0.7800 0.6711 0.82 0.85 0.81 0.38 0.72 rs12520255 . . . . . . . . . . . . . 0.724 0.039 T 0.0 0.026 B 0.0 0.013 B 0.257 0.037 N 1 0.090 P -1.1 0.010 N 5.13 0.013 T 0.95 0.015 N 0.035 0.015 -1.067 0.101 T 0.000 0.000 T . . . -0.904 0.036 0.025 0.420 0.030 0.006 0.027 N c -1.479 -1.469 0.999 0.376 0.598 0.340 0 -0.439 0.116 -0.905 0.042 -0.401 0.062 0.000 0.063 0.001 0.043 3.740 0.080 . . . 0.7817 0.8460 0.7747 0.7793 0.7545 0.8275 0.8051 0.7798 0.6628 0.8249 0.8478 0.7602 0.7914 0.7782 0.8219 0.8232 0.8020 het 633.20 71 5 115298475 . T C 633.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.380;DP=71;Dels=0.00;FS=3.744;HRun=0;HaplotypeScore=1.7608;MQ=59.32;MQ0=0;MQRankSum=-0.030;QD=8.92;ReadPosRankSum=-0.302;VQSLOD=6.1787;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,27:71:99:663,0,1206 5 115298518 115298518 A G exonic LVRN synonymous SNV LVRN:NM_173800:exon1:c.A204G:p.P68P . . . . . . 0.7814 0.8353 0.7661 0.7495 0.8171 0.8052 0.7795 0.6706 0.82 0.84 0.81 0.62 0.79 rs12522632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7818 0.8375 0.7744 0.7792 0.7560 0.8273 0.8061 0.7791 0.6624 0.8221 0.8371 0.7572 0.7914 0.7783 0.8225 0.8236 0.8002 het 1115.34 117 5 115298518 . A G 1115.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.968;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5088;MQ=59.28;MQ0=0;MQRankSum=-0.089;QD=9.53;ReadPosRankSum=-0.434;VQSLOD=4.3464;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,52:117:99:1145,0,1688 5 115336862 115336862 T C exonic LVRN synonymous SNV LVRN:NM_173800:exon10:c.T1746C:p.N582N 0.25 0.31 0.24 0.23 0.33 0.14 0.2895 0.3188 0.1807 0.2245 0.3447 0.3403 0.3436 0.1511 0.34 0.31 0.35 0.3 0.3 rs7712021 COSM4003258;COSM4003259 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2871 0.3214 0.1919 0.3034 0.2272 0.3540 0.3422 0.2979 0.1514 0.3362 0.3283 0.2303 0.2947 0.2367 0.3444 0.3577 0.3163 het 1861.78 127 5 115336862 . T C 1861.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.589;DP=127;Dels=0.00;FS=3.212;HRun=0;HaplotypeScore=1.7331;MQ=59.33;MQ0=0;MQRankSum=-1.515;QD=14.66;ReadPosRankSum=-0.337;VQSLOD=5.8622;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,70:127:99:1892,0,1447 5 115341611 115341611 G T exonic LVRN synonymous SNV LVRN:NM_173800:exon13:c.G2040T:p.A680A 0.78 0.81 0.8 0.78 0.81 0.69 0.8040 0.7974 0.7688 0.7765 0.8816 0.8286 0.8227 0.7155 0.82 0.8 0.83 0.78 0.85 rs10078748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8057 0.7965 0.7724 0.7960 0.7770 0.8868 0.8313 0.8108 0.7133 0.8322 0.7902 0.7727 0.8179 0.7766 0.8872 0.8525 0.8469 hom 2728.25 92 5 115341611 . G T 2728.25 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=29.65;VQSLOD=9.0604;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2761,208,0 5 115341638 115341638 G C exonic LVRN nonsynonymous SNV LVRN:NM_173800:exon13:c.G2067C:p.L689F . . . . . . 0.8044 0.7992 0.7712 0.7770 0.8814 0.8284 0.8227 0.7166 0.82 0.8 0.83 0.78 0.85 rs10078759 . . . . . . . . . . . . . 0.046 0.405 D 0.413 0.333 B 0.148 0.324 B 0.058 0.224 N 1.000 0.182 P 2.105 0.586 M 3.04 0.088 T -2.55 0.551 D 0.41 0.501 -1.111 0.030 T 0.000 0.000 T . . . 4.621 0.619 24.5 0.995 0.660 0.763 0.371 D c -0.039 0.024 0.000 0.038 0.554 0.246 0 2.97 0.333 0.933 0.283 1.048 0.713 0.994 0.380 0.952 0.428 7.875 0.286 ERAP1-like C-terminal domain . . 0.8062 0.7986 0.7747 0.7945 0.7770 0.8868 0.8312 0.8110 0.7148 0.8323 0.7916 0.7710 0.8146 0.7759 0.8869 0.8523 0.8456 hom 2878.77 96 5 115341638 . G C 2878.77 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=29.99;VQSLOD=9.2024;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2912,217,0 5 115428334 115428334 G T exonic COMMD10 synonymous SNV COMMD10:NM_001308080:exon4:c.G294T:p.T98T,COMMD10:NM_016144:exon4:c.G336T:p.T112T 0.44 0.17 0.53 0.38 0.66 0.57 0.5733 0.2441 0.5027 0.4008 0.6158 0.6494 0.5958 0.5946 0.51 0.26 0.64 0.49 0.68 rs1129494 COSM149901 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5753 0.2344 0.5022 0.5897 0.4068 0.6172 0.6545 0.5907 0.5917 0.5064 0.2412 0.5407 0.6060 0.4332 0.6003 0.6369 0.5988 hom 3014.25 97 5 115428334 . G T 3014.25 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9868;MQ=59.55;MQ0=0;QD=31.07;VQSLOD=9.2263;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:97:99:3047,232,0 5 115469773 115469773 C T exonic COMMD10 synonymous SNV COMMD10:NM_001308080:exon5:c.C366T:p.T122T,COMMD10:NM_016144:exon5:c.C408T:p.T136T 0.43 0.14 0.54 0.38 0.66 0.57 0.5698 0.2159 0.5003 0.4017 0.6144 0.6485 0.5936 0.5923 0.5 0.23 0.64 0.45 0.66 rs1129496 COSM149902 1(stomach);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5733 0.2068 0.5051 0.5891 0.4098 0.6149 0.6535 0.5915 0.5923 0.4992 0.2154 0.5420 0.6093 0.4379 0.5991 0.6362 0.6 hom 2479.18 78 5 115469773 . C T 2479.18 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=31.78;VQSLOD=9.6383;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2512,193,0 5 115813726 115813726 A G exonic SEMA6A nonsynonymous SNV SEMA6A:NM_001300780:exon14:c.T1552C:p.Y518H,SEMA6A:NM_020796:exon14:c.T1552C:p.Y518H 1. 1. 1. 1. 1. 1. 1.0000 1 0.9999 1 1 1.0000 1 1 . . . 1. . rs34966 COSM4591691 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 0.9999 1 1 0.9999 1 1 1 1 1 0.9999 1 hom 7614.67 245 5 115813726 . A G 7614.67 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4048;MQ=59.43;MQ0=0;QD=31.08;VQSLOD=7.9589;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,245:245:99:7614,581,0 5 118484804 118484804 G A exonic DMXL1 synonymous SNV DMXL1:NM_001290321:exon18:c.G3282A:p.E1094E,DMXL1:NM_001290322:exon18:c.G2763A:p.E921E,DMXL1:NM_005509:exon18:c.G3282A:p.E1094E,DMXL1:NM_001349239:exon19:c.G3282A:p.E1094E,DMXL1:NM_001349240:exon19:c.G3282A:p.E1094E 0.62 0.46 0.63 0.95 0.48 0.63 0.5545 0.4885 0.7344 0.9684 0.6086 0.4638 0.5341 0.5996 0.48 0.48 0.48 0.6 0.4 rs7734532 COSM4880439;COSM4880440 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5670 0.4828 0.7210 0.3800 0.9678 0.6065 0.4728 0.5088 0.5996 0.5380 0.4900 0.6806 0.4139 0.9688 0.5974 0.4990 0.5611 het 2108.40 215 5 118484804 . G A 2108.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.493;DP=215;Dels=0.00;FS=6.944;HRun=1;HaplotypeScore=3.7909;MQ=58.74;MQ0=0;MQRankSum=1.235;QD=9.81;ReadPosRankSum=-1.017;VQSLOD=4.2939;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:132,83:215:99:2138,0,3637 5 118513876 118513876 G A exonic DMXL1 nonsynonymous SNV DMXL1:NM_001290321:exon28:c.G7072A:p.A2358T,DMXL1:NM_001290322:exon28:c.G6553A:p.A2185T,DMXL1:NM_005509:exon28:c.G7072A:p.A2358T,DMXL1:NM_001349239:exon29:c.G7072A:p.A2358T,DMXL1:NM_001349240:exon29:c.G7072A:p.A2358T 0.03 0.0038 0.032 0.011 0.061 0.053 0.0496 0.0105 0.0354 0.0067 0.0632 0.0635 0.0606 0.0441 0.044 0.012 0.061 0.033 0.066 rs79460759 . . . . . . . . . . . . . 0.476 0.085 T 0.629 0.383 P 0.109 0.298 B 0.000 0.559 D 1.000 0.489 D 1.62 0.416 L 2.95 0.097 T -1.39 0.344 N 0.259 0.678 -0.956 0.400 T 0.003 0.010 T . . . 2.132 0.317 17.06 0.974 0.334 0.952 0.636 D c 0.114 0.294 0.998 0.368 0.707 0.730 0 5.72 0.893 7.325 0.782 1.048 0.713 1.000 0.715 0.965 0.450 19.896 0.969 . . . 0.0509 0.0094 0.0369 0.0776 0.0066 0.0678 0.0628 0.0642 0.0449 0.0473 0.0091 0.0312 0.0795 0.0074 0.0722 0.0674 0.0611 het 959.98 60 5 118513876 . G A 959.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.546;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7334;MQ=59.23;MQ0=0;MQRankSum=-1.079;QD=16.00;ReadPosRankSum=1.049;VQSLOD=5.0723;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,37:60:99:990,0,587 5 118811533 118811533 G A exonic HSD17B4 nonsynonymous SNV HSD17B4:NM_001199292:exon5:c.G263A:p.R88H,HSD17B4:NM_000414:exon6:c.G317A:p.R106H,HSD17B4:NM_001199291:exon7:c.G392A:p.R131H,HSD17B4:NM_001292027:exon7:c.G245A:p.R82H 0.36 0.11 0.51 0.51 0.45 0.36 0.4400 0.1695 0.5682 0.5166 0.5176 0.4643 0.4603 0.3511 0.36 0.18 0.46 0.29 0.42 rs25640 COSM1432658 5(prostate) Benign|Benign|Benign\x2cPathogenic not_specified|Perrault_Syndrome|Bifunctional_peroxisomal_enzyme_deficiency\x2cBifunctional_peroxisomal_enzyme_deficiency RCV000179310.3|RCV000362861.1|RCV000391832.1\x2cRCV000008096.2 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239459|C0342870:261515:ORPHA300:238068007\x2cC0342870:261515:ORPHA300:238068007 . . . . . . 0.02 0.586 D 0.996 0.670 D 0.687 0.518 P 0.000 0.629 D 0.000 0.810 P 0.995 0.252 L -2.29 0.876 D -3.39 0.669 D 0.624 0.662 -0.975 0.361 T 0.000 0.000 T . . . 7.301 0.948 34 0.998 0.912 0.990 0.904 D c 0.523 0.617 1.000 0.747 0.732 0.924 0 5.67 0.876 7.758 0.840 1.048 0.713 1.000 0.715 0.997 0.653 19.358 0.944 NAD(P)-binding domain ENSG00000133835.10|ENSG00000133835.10|ENSG00000133835.10 Cells_Transformed_fibroblasts|Nerve_Tibial|Stomach 0.4514 0.1648 0.5608 0.5064 0.5204 0.5080 0.4579 0.4627 0.3520 0.3954 0.1780 0.5180 0.4735 0.5075 0.5159 0.4671 0.4990 het 463 75 5 118811533 . G A 463 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.926;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=59.69;MQ0=0;MQRankSum=0.273;QD=6.17;ReadPosRankSum=-0.471;VQSLOD=5.6986;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,22:75:99:493,0,1332 5 118835033 118835033 C T exonic HSD17B4 nonsynonymous SNV HSD17B4:NM_001199292:exon12:c.C940T:p.L314F,HSD17B4:NM_000414:exon13:c.C994T:p.L332F,HSD17B4:NM_001292028:exon13:c.C574T:p.L192F,HSD17B4:NM_001199291:exon14:c.C1069T:p.L357F,HSD17B4:NM_001292027:exon14:c.C922T:p.L308F . . . . . . 5.799e-05 0 0 0 0 0.0001 0 0 0.0001 . 0.0001 . . rs370579120 . . . . . . . . . . . . . 0.517 0.183 T 0.009 0.139 B 0.005 0.133 B 0.008 0.312 N 0.676 0.332 D 0.75 0.191 N -1.22 0.788 T 0.0 0.073 N 0.15 0.192 -0.952 0.407 T 0.168 0.508 T 0.018 0.400 T -0.202 0.076 1.087 0.676 0.082 0.029 0.076 N c -1.369 -1.362 0.092 0.162 0.732 0.924 0 -1.54 0.081 -1.455 0.025 -0.486 0.053 0.000 0.063 0.926 0.400 5.753 0.173 HotDog domain . . 6.102e-05 0 5.958e-05 0 0 0 0.0001 0 0 3.23e-05 0 0 0 0 0 6.662e-05 0 het 755.45 67 5 118835033 . C T 755.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.560;DP=67;Dels=0.00;FS=5.207;HRun=1;HaplotypeScore=2.7802;MQ=58.34;MQ0=0;MQRankSum=1.456;QD=11.28;ReadPosRankSum=-1.161;VQSLOD=3.1750;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,34:67:99:785,0,909 5 118861713 118861713 A G exonic HSD17B4 nonsynonymous SNV HSD17B4:NM_001199292:exon18:c.A1621G:p.I541V,HSD17B4:NM_000414:exon19:c.A1675G:p.I559V,HSD17B4:NM_001292028:exon19:c.A1255G:p.I419V,HSD17B4:NM_001199291:exon20:c.A1750G:p.I584V,HSD17B4:NM_001292027:exon20:c.A1603G:p.I535V 0.4 0.41 0.47 0.42 0.41 0.31 0.4110 0.3914 0.5341 0.4060 0.5089 0.4153 0.3943 0.2844 0.4 0.4 0.41 0.37 0.43 rs11205 COSM1130959 1(haematopoietic_and_lymphoid_tissue);5(prostate);4(large_intestine);1(biliary_tract) Benign|Benign|Benign not_specified|Bifunctional_peroxisomal_enzyme_deficiency|Perrault_Syndrome RCV000221678.2|RCV000290935.1|RCV000385277.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0342870:261515:ORPHA300:238068007|CN239459 . . . . . . 0.275 0.241 T 0.791 0.427 P 0.332 0.404 B 0.000 0.843 D 0.000 0.588 P 1.4 0.355 L -1.4 0.805 T -0.48 0.166 N 0.112 0.390 -0.983 0.344 T 0.000 0.000 T . . . 2.758 0.392 21.1 0.994 0.644 0.968 0.708 D c 0.052 0.202 1.000 0.747 0.706 0.609 0 5.39 0.775 4.202 0.580 1.140 0.893 1.000 0.715 0.995 0.604 14.383 0.663 HotDog domain|MaoC-like domain ENSG00000133835.10|ENSG00000145779.7|ENSG00000133835.10|ENSG00000133835.10 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial|Stomach 0.4185 0.3873 0.5296 0.4586 0.4128 0.5036 0.4066 0.4079 0.2868 0.4172 0.3921 0.4746 0.4631 0.3986 0.5094 0.4070 0.4446 het 826.92 65 5 118861713 . A G 826.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.271;DP=65;Dels=0.00;FS=6.343;HRun=0;HaplotypeScore=0.9789;MQ=57.88;MQ0=0;MQRankSum=-0.518;QD=12.72;ReadPosRankSum=0.046;VQSLOD=4.8369;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,32:65:99:857,0,935 5 118969960 118969960 C T exonic FAM170A nonsynonymous SNV FAM170A:NM_001163991:exon2:c.C376T:p.P126S,FAM170A:NM_182761:exon3:c.C517T:p.P173S 0.44 0.35 0.39 0.49 0.45 0.56 0.4473 0.3467 0.3606 0.5096 0.4197 0.4478 0.4467 0.5446 0.41 0.34 0.44 0.37 0.43 rs328694 COSM1130958 1(haematopoietic_and_lymphoid_tissue);5(prostate);1(large_intestine) . . . . . . . . . . . 0.268 0.161 T 1.0 0.899 D 0.998 0.916 D 0.000 0.629 D 1 0.090 P 2.81 0.821 M 0.98 0.421 T -2.28 0.508 N 0.022 0.005 -0.914 0.464 T 0.000 0.000 T . . . 3.125 0.435 22.6 0.990 0.501 0.033 0.082 N c -0.289 -0.504 0.001 0.074 0.487 0.133 0 2.11 0.262 0.996 0.291 0.068 0.175 0.025 0.199 0.157 0.207 3.731 0.080 . . . 0.4465 0.3430 0.3639 0.5485 0.5096 0.4297 0.4420 0.4648 0.5453 0.4071 0.3401 0.3998 0.5633 0.4981 0.4186 0.4307 0.4122 het 2485.71 190 5 118969960 . C T 2485.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.512;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6567;MQ=59.32;MQ0=0;MQRankSum=-0.684;QD=13.08;ReadPosRankSum=-0.586;VQSLOD=6.4903;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:96,94:190:99:2516,0,2665 5 120021819 120021819 G A exonic PRR16 synonymous SNV PRR16:NM_001300783:exon2:c.G330A:p.P110P,PRR16:NM_001308087:exon2:c.G120A:p.P40P,PRR16:NM_016644:exon3:c.G261A:p.P87P,PRR16:NM_001308088:exon4:c.G120A:p.P40P 0.98 0.93 1. 1. 1. 1. 0.9942 0.9362 0.9983 1 1 0.9997 0.9978 0.9999 0.98 0.94 1. 0.88 0.98 rs1158194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9954 0.9350 0.9978 0.9969 1 1 0.9999 0.9978 0.9999 0.9814 0.9347 0.9988 1 1 1 0.9999 0.9949 hom 6082.58 192 5 120021819 . G A 6082.58 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1983;MQ=58.86;MQ0=0;QD=31.68;VQSLOD=7.5384;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:192:99:6082,487,0 5 121488506 121488506 C G exonic ZNF474 nonsynonymous SNV ZNF474:NM_207317:exon2:c.C821G:p.S274C 0.25 0.09 0.24 0.39 0.27 0.3 0.2858 0.1100 0.2366 0.3883 0.3347 0.2886 0.3051 0.3453 0.23 0.12 0.28 0.21 0.35 rs35262183 COSM4003272 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.025 0.473 D 0.985 0.592 D 0.408 0.429 B 0.537 0.116 U 1 0.090 P 2.39 0.691 M 0.78 0.494 T -1.97 0.456 N 0.06 0.044 -0.957 0.397 T 0.000 0.000 T . . . 0.841 0.174 9.713 0.908 0.194 0.034 0.084 N c -0.625 -0.776 1.000 0.437 0.487 0.133 0 2.52 0.294 1.001 0.292 -0.477 0.053 0.002 0.151 0.002 0.062 7.621 0.272 . . . 0.2875 0.1060 0.2257 0.3421 0.3849 0.3361 0.2854 0.2824 0.3465 0.2478 0.1091 0.2136 0.3113 0.3986 0.3452 0.2893 0.2638 het 1378.29 95 5 121488506 . C G 1378.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.431;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.76;MQ0=0;MQRankSum=-1.113;QD=14.51;ReadPosRankSum=-0.633;VQSLOD=6.2369;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,53:95:99:1408,0,1180 5 122682348 122682348 A G exonic CEP120 synonymous SNV CEP120:NM_001166226:exon20:c.T2748C:p.D916D,CEP120:NM_153223:exon21:c.T2826C:p.D942D 0.68 0.72 0.67 0.59 0.74 0.67 0.6938 0.7500 0.6247 0.5782 0.7158 0.7158 0.7280 0.6675 0.73 0.76 0.71 0.76 0.64 rs1047438 COSM1432712 1(breast);1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6904 0.7523 0.6344 0.7341 0.5750 0.7113 0.7141 0.7046 0.6678 0.7113 0.7528 0.6459 0.7649 0.5887 0.7158 0.7036 0.6813 hom 4881.29 163 5 122682348 . A G 4881.29 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=58.82;MQ0=0;QD=29.95;VQSLOD=9.1962;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:4880,403,0 5 122718736 122718736 G C exonic CEP120 nonsynonymous SNV CEP120:NM_001166226:exon12:c.C1726G:p.L576V,CEP120:NM_153223:exon13:c.C1804G:p.L602V 0.41 0.29 0.41 0.51 0.45 0.45 0.4280 0.3271 0.3966 0.4865 0.4447 0.4296 0.4382 0.4666 0.39 0.32 0.43 0.38 0.049 rs6595440 . . . . . . . . . . . . . 0.005 0.632 D 1.0 0.899 D 0.999 0.916 D 0.000 0.513 N 0.001 0.452 P 2.78 0.814 M 0.14 0.609 T -2.15 0.503 N 0.124 0.240 -0.910 0.469 T 0.000 0.000 T . . . 4.672 0.626 24.5 0.998 0.856 0.918 0.540 D c 0.245 0.160 0.678 0.224 0.651 0.465 0 1.93 0.249 2.835 0.476 0.142 0.226 1.000 0.715 0.994 0.587 6.920 0.234 . . . 0.4211 0.3165 0.3909 0.3463 0.4775 0.4422 0.4281 0.4137 0.4595 0.4028 0.3212 0.3914 0.3179 0.4793 0.4527 0.4317 0.4194 het 155.75 21 5 122718736 . G C 155.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.426;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=55.81;MQ0=0;MQRankSum=0.872;QD=7.42;ReadPosRankSum=1.902;VQSLOD=4.7123;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,8:21:99:186,0,291 5 122727026 122727026 G A exonic CEP120 synonymous SNV CEP120:NM_001166226:exon7:c.C738T:p.H246H,CEP120:NM_153223:exon8:c.C816T:p.H272H 0.46 0.47 0.42 0.51 0.45 0.45 0.4398 0.4670 0.3997 0.4848 0.4463 0.4301 0.4420 0.4649 0.44 0.47 0.43 0.48 0.34 rs6876883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4378 0.4693 0.4029 0.3554 0.4792 0.4454 0.4365 0.4280 0.4643 0.4463 0.4645 0.3995 0.3278 0.4801 0.4541 0.4361 0.4328 het 1702.49 125 5 122727026 . G A 1702.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.278;DP=125;DS;Dels=0.00;FS=3.736;HRun=0;HaplotypeScore=7.9747;MQ=59.12;MQ0=0;MQRankSum=0.989;QD=13.62;ReadPosRankSum=-0.605;VQSLOD=4.7169;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:60,63:125:99:1732,0,1726 5 123983915 123983915 G T exonic ZNF608 nonsynonymous SNV ZNF608:NM_020747:exon4:c.C2162A:p.T721N 0.63 0.71 0.45 0.75 0.55 0.61 0.5625 0.6605 0.4546 0.7503 0.6210 0.5296 0.5665 0.5873 0.56 0.66 0.51 0.71 0.45 rs6862252 . . . . . . . . . . . . . 0.484 0.081 T 0.0 0.026 B 0.0 0.013 B 0.032 0.251 N 1 0.090 P -1.905 0.002 N 0.98 0.421 T 0.62 0.029 N 0.012 0.001 -1.006 0.281 T 0.000 0.000 T . . . -0.422 0.060 0.342 0.783 0.118 0.026 0.072 N c -1.129 -0.974 1.000 0.415 0.707 0.730 0 -0.826 0.102 -0.380 0.074 0.145 0.233 0.035 0.205 0.994 0.587 7.473 0.264 . . . 0.5553 0.6656 0.4576 0.4979 0.7459 0.6145 0.5260 0.5301 0.5864 0.5836 0.6564 0.4569 0.4934 0.7423 0.6025 0.5307 0.5499 het 1117.32 80 5 123983915 . G T 1117.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.247;DP=80;Dels=0.00;FS=8.818;HRun=1;HaplotypeScore=0.8667;MQ=58.10;MQ0=0;MQRankSum=1.405;QD=13.97;ReadPosRankSum=0.847;VQSLOD=4.5638;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,41:80:99:1147,0,1090 5 123984763 123984763 C T exonic ZNF608 synonymous SNV ZNF608:NM_020747:exon4:c.G1314A:p.A438A 0.76 0.89 0.6 0.76 0.75 0.72 0.7449 0.8707 0.5570 0.7554 0.8166 0.7540 0.7550 0.7306 0.79 0.87 0.74 0.89 0.8 rs7708070 COSM4159379 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7346 0.8721 0.5641 0.7512 0.7495 0.8147 0.7492 0.7312 0.7297 0.7793 0.8583 0.6038 0.7219 0.7497 0.8050 0.7440 0.7429 het 1726.98 113 5 123984763 . C T 1726.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.084;DP=113;Dels=0.00;FS=1.668;HRun=1;HaplotypeScore=1.3990;MQ=59.59;MQ0=0;MQRankSum=0.451;QD=15.28;ReadPosRankSum=-1.078;VQSLOD=6.5617;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,59:113:99:1757,0,1296 5 125887715 125887715 T G exonic ALDH7A1 nonsynonymous SNV ALDH7A1:NM_001202404:exon12:c.A1123C:p.K375Q,ALDH7A1:NM_001182:exon14:c.A1315C:p.K439Q,ALDH7A1:NM_001201377:exon14:c.A1231C:p.K411Q 0.097 0.022 0.16 0.17 0.1 0.079 0.1059 0.0430 0.2606 0.1418 0.1256 0.0897 0.1079 0.0760 0.074 0.044 0.089 0.065 0.14 rs12514417 . . other|Likely benign not_specified|Pyridoxine-dependent_epilepsy RCV000116310.4|RCV000382229.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1849508:266100:ORPHA3006 . . . . . . 0.207 0.198 T 0.019 0.167 B 0.026 0.195 B 0.000 0.843 N 0.901 0.498 P 2.075 0.572 M -2.85 0.914 D -1.17 0.324 N 0.087 0.294 -0.814 0.544 T 0.008 0.029 T . . . 2.169 0.322 17.31 0.948 0.249 0.987 0.851 D c -0.199 -0.076 0.028 0.138 0.707 0.730 0 3.52 0.393 4.918 0.628 0.082 0.190 1.000 0.715 0.997 0.653 11.714 0.507 Aldehyde dehydrogenase domain|Aldehyde dehydrogenase\x2c C-terminal|Aldehyde/histidinol dehydrogenase . . 0.1139 0.0447 0.2412 0.0768 0.1407 0.1320 0.0908 0.1065 0.0785 0.0887 0.0399 0.1998 0.0695 0.1489 0.1280 0.0947 0.1029 het 377.22 42 5 125887715 . T G 377.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.251;DP=42;Dels=0.00;FS=2.755;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=-0.966;QD=8.98;ReadPosRankSum=0.437;VQSLOD=5.7980;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,17:42:99:407,0,662 5 126746277 126746277 C T exonic MEGF10 synonymous SNV MEGF10:NM_001256545:exon9:c.C1114T:p.L372L,MEGF10:NM_001308121:exon9:c.C1114T:p.L372L,MEGF10:NM_001308119:exon10:c.C1114T:p.L372L,MEGF10:NM_032446:exon10:c.C1114T:p.L372L 0.97 1. 0.96 1. 0.93 0.97 0.9447 0.9865 0.9676 0.9999 0.9266 0.9234 0.9499 0.9662 0.94 0.98 0.92 0.97 0.92 rs31483 . . Benign|Benign not_specified|Myopathy\x2c_areflexia\x2c_respiratory_distress\x2c_and_dysphagia\x2c_early-onset RCV000246324.2|RCV000305410.1 MedGen|MedGen:OMIM:Orphanet CN169374|C3280679:614399:ORPHA439212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9443 0.9872 0.9665 0.9508 0.9997 0.9252 0.9202 0.9377 0.9645 0.9399 0.9864 0.9582 0.9735 0.9994 0.9201 0.9111 0.9134 hom 1477.10 44 5 126746277 . C T 1477.10 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=58.95;MQ0=0;QD=33.57;VQSLOD=9.5848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1510,120,0 5 126792974 126792974 T A exonic MEGF10 synonymous SNV MEGF10:NM_001256545:exon25:c.T3387A:p.G1129G,MEGF10:NM_032446:exon26:c.T3387A:p.G1129G 0.38 0.16 0.47 0.3 0.64 0.42 0.5275 0.2226 0.4574 0.2906 0.6038 0.6241 0.5573 0.4698 0.49 0.24 0.62 0.29 0.57 rs3812052 COSM4003273 1(breast);3(haematopoietic_and_lymphoid_tissue);1(liver) Benign|Likely benign not_specified|Myopathy\x2c_areflexia\x2c_respiratory_distress\x2c_and_dysphagia\x2c_early-onset RCV000252848.2|RCV000268761.1 MedGen|MedGen:OMIM:Orphanet CN169374|C3280679:614399:ORPHA439212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5301 0.2164 0.4622 0.6034 0.2922 0.5999 0.6247 0.5645 0.4718 0.4799 0.2239 0.4904 0.6093 0.2816 0.6080 0.6135 0.5389 hom 3668.84 111 5 126792974 . T A 3668.84 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.25;MQ0=0;QD=33.05;VQSLOD=9.3209;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3668,286,0 5 126887569 126887569 G A exonic PRRC1 synonymous SNV PRRC1:NM_001286808:exon9:c.G1299A:p.A433A,PRRC1:NM_130809:exon9:c.G1299A:p.A433A 0.39 0.32 0.45 0.55 0.29 0.37 0.3421 0.3015 0.4747 0.5531 0.2536 0.3055 0.3311 0.3483 0.31 0.31 0.31 0.41 0.42 rs7522 COSM3760897;COSM3760898 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3481 0.3056 0.4672 0.3636 0.5493 0.2666 0.3017 0.3402 0.3496 0.3097 0.2953 0.4439 0.3311 0.5529 0.2564 0.2958 0.3198 het 1264.56 101 5 126887569 . G A 1264.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.267;DP=101;Dels=0.00;FS=1.648;HRun=0;HaplotypeScore=3.4091;MQ=58.90;MQ0=0;MQRankSum=0.162;QD=12.52;ReadPosRankSum=-0.438;VQSLOD=6.3740;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,48:101:99:1295,0,1276 5 126993249 126993249 G C exonic CTXN3 synonymous SNV CTXN3:NM_001048252:exon3:c.G36C:p.V12V,CTXN3:NM_001127385:exon3:c.G36C:p.V12V 0.65 0.76 0.6 0.61 0.66 0.57 0.6498 0.7604 0.5809 0.6168 0.6723 0.6649 0.6876 0.5734 0.71 0.77 0.67 0.61 0.6 rs45074 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6482 0.7607 0.5907 0.7092 0.6226 0.6670 0.6637 0.6478 0.5802 0.6892 0.7638 0.5766 0.6887 0.6238 0.6688 0.6662 0.6544 hom 3687.43 107 5 126993249 . G C 3687.43 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.699;DP=107;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.8656;MQ=59.57;MQ0=0;MQRankSum=1.471;QD=34.46;ReadPosRankSum=1.634;VQSLOD=8.0721;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,105:107:99:3652,289,0 5 126993263 126993263 A T exonic CTXN3 nonsynonymous SNV CTXN3:NM_001048252:exon3:c.A50T:p.E17V,CTXN3:NM_001127385:exon3:c.A50T:p.E17V 0.65 0.77 0.6 0.61 0.66 0.57 0.6504 0.7637 0.5806 0.6179 0.6725 0.6648 0.6861 0.5757 0.71 0.77 0.67 0.61 0.6 rs248709 . . . . . . . . . . . . . 0.291 0.149 T 0.0 0.026 B 0.0 0.013 B 0.076 0.023 N 1 0.090 P . . . 1.49 0.315 T 0.81 0.018 N 0.05 0.036 -0.981 0.347 T 0.000 0.000 T . . . -0.303 0.068 0.655 0.764 0.111 0.004 0.021 N c -1.323 -1.429 0.092 0.162 0.487 0.133 0 -4.23 0.035 0.143 0.158 -0.798 0.032 0.000 0.063 0.002 0.062 5.049 0.137 . . . 0.6487 0.7639 0.5909 0.7094 0.6231 0.6670 0.6637 0.6479 0.5824 0.6902 0.7673 0.5779 0.69 0.6238 0.6684 0.6661 0.6548 hom 4196.35 129 5 126993263 . A T 4196.35 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=59.35;MQ0=0;QD=32.53;VQSLOD=9.0101;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4196,352,0 5 127469859 127469859 A G exonic SLC12A2 synonymous SNV SLC12A2:NM_001046:exon6:c.A1191G:p.E397E,SLC12A2:NM_001256461:exon6:c.A1191G:p.E397E 0.39 0.73 0.4 0.33 0.19 0.21 0.2795 0.6348 0.4158 0.3329 0.2050 0.2191 0.2379 0.2082 0.36 0.62 0.22 0.46 0.2 rs2228112 COSM3760899 4(haematopoietic_and_lymphoid_tissue);1(cervix);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2768 0.6421 0.4062 0.2616 0.3329 0.2128 0.2129 0.2469 0.2104 0.3443 0.6284 0.3624 0.2616 0.3364 0.2165 0.2162 0.2469 het 1334.37 115 5 127469859 . A G 1334.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.713;DP=115;Dels=0.00;FS=1.997;HRun=0;HaplotypeScore=1.6006;MQ=59.40;MQ0=0;MQRankSum=1.798;QD=11.60;ReadPosRankSum=-1.018;VQSLOD=6.2896;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,53:115:99:1364,0,1782 5 127597518 127597518 G A exonic FBN2 synonymous SNV FBN2:NM_001999:exon64:c.C8274T:p.S2758S 0.11 0.2 0.086 0.048 0.12 0.076 0.1043 0.1724 0.0710 0.0261 0.1466 0.1154 0.1101 0.0630 0.14 0.17 0.12 0.15 0.09 rs10070365 COSM4407171;COSM4407172 1(liver) Benign|Benign|Benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Congenital_contractural_arachnodactyly RCV000117034.4|RCV000243294.1|RCV000403969.1 MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN118826:ORPHA91387|C0220668:121050:ORPHA115:205821003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1020 0.1735 0.0691 0.0524 0.0273 0.1441 0.1197 0.1107 0.0642 0.1328 0.1751 0.0823 0.0629 0.0334 0.1368 0.1237 0.1115 het 2604.74 197 5 127597518 . G A 2604.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.540;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4960;MQ=59.58;MQ0=0;MQRankSum=0.967;QD=13.22;ReadPosRankSum=0.621;VQSLOD=5.9433;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,95:197:99:2635,0,2949 5 127614472 127614472 A G exonic FBN2 synonymous SNV FBN2:NM_001999:exon57:c.T7200C:p.S2400S 0.73 0.61 0.71 0.85 0.7 0.79 0.7281 0.6259 0.6958 0.8721 0.7797 0.7167 0.7412 0.7649 0.68 0.63 0.7 0.64 0.71 rs190450 COSM5654035;COSM5654036 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Congenital_contractural_arachnodactyly RCV000117030.4|RCV000254449.1|RCV000269057.1 MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN118826:ORPHA91387|C0220668:121050:ORPHA115:205821003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7267 0.6232 0.6903 0.7178 0.8776 0.7787 0.7088 0.7257 0.7634 0.7155 0.6347 0.6766 0.7119 0.8793 0.7811 0.7281 0.7694 hom 4119 126 5 127614472 . A G 4119 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=32.69;VQSLOD=9.4700;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4119,316,0 5 127685135 127685135 C T exonic FBN2 nonsynonymous SNV FBN2:NM_001999:exon23:c.G2893A:p.V965I 0.73 0.6 0.76 0.92 0.67 0.76 0.7234 0.6221 0.8277 0.9366 0.7146 0.6911 0.7196 0.7366 0.66 0.63 0.68 0.73 0.7 rs154001 COSM4984959;COSM4984960 1(haematopoietic_and_lymphoid_tissue);16(soft_tissue) Benign|Benign|Benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Congenital_contractural_arachnodactyly RCV000117020.4|RCV000244792.1|RCV000342582.1 MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN118826:ORPHA91387|C0220668:121050:ORPHA115:205821003 . . . . . . 0.331 0.131 T 0.118 0.250 B 0.073 0.266 B 0.000 0.504 D 0.044 0.380 P -0.39 0.030 N -3.01 0.922 D -0.3 0.142 N 0.356 0.417 -0.947 0.416 T 0.000 0.000 T . . . 3.009 0.422 22.3 0.987 0.440 0.858 0.446 D c -0.267 -0.101 1.000 0.747 0.719 0.830 0 3.32 0.370 4.113 0.574 0.935 0.490 0.999 0.424 1.000 0.888 13.229 0.592 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|TB domain ENSG00000138829.6|ENSG00000138829.6|ENSG00000138829.6 Adipose_Subcutaneous|Artery_Tibial|Lung 0.7280 0.6180 0.8193 0.7722 0.9397 0.7092 0.6825 0.7102 0.7319 0.6947 0.6250 0.7655 0.7682 0.9442 0.7234 0.6936 0.7357 het 858.09 81 5 127685135 . C T 858.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.600;DP=81;Dels=0.00;FS=1.867;HRun=0;HaplotypeScore=0.9665;MQ=58.38;MQ0=0;MQRankSum=-0.630;QD=10.59;ReadPosRankSum=-0.495;VQSLOD=5.6530;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,33:81:99:888,0,1164 5 128301885 128301885 T G exonic SLC27A6 nonsynonymous SNV SLC27A6:NM_001017372:exon1:c.T55G:p.L19V,SLC27A6:NM_001317984:exon2:c.T55G:p.L19V,SLC27A6:NM_014031:exon2:c.T55G:p.L19V 0.21 0.19 0.25 0.059 0.37 0.19 0.3000 0.2093 0.2161 0.0665 0.2921 0.3719 0.3341 0.2337 0.32 0.22 0.38 0.15 0.45 rs2526247 COSM4408397 1(liver);1(skin) . . . . . . . . . . . 0.475 0.083 T 0.001 0.067 B 0.002 0.063 B 0.850 0.070 N 1 0.090 P 0.9 0.233 L 0.61 0.535 T -0.91 0.245 N 0.034 0.015 -1.026 0.217 T 0.000 0.000 T . . . -1.605 0.015 0.002 0.613 0.065 0.012 0.043 N c -1.886 -2.007 1.000 0.747 0.767 0.994 0 -8.9 0.007 -7.556 0.000 -1.693 0.008 0.000 0.063 0.021 0.135 2.438 0.042 . ENSG00000113396.8|ENSG00000113396.8|ENSG00000113396.8|ENSG00000113396.8|ENSG00000113396.8|ENSG00000113396.8|ENSG00000113396.8|ENSG00000066583.7|ENSG00000113396.8 Adipose_Subcutaneous|Brain_Caudate_basal_ganglia|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Esophagus_Mucosa|Nerve_Tibial|Testis|Testis 0.2872 0.2030 0.2093 0.3884 0.0632 0.2937 0.3717 0.3239 0.1995 0.2895 0.2048 0.2434 0.3742 0.0556 0.2931 0.3617 0.3262 het 1170.42 117 5 128301885 . T G 1170.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.882;DP=117;Dels=0.00;FS=3.150;HRun=0;HaplotypeScore=2.5257;MQ=59.28;MQ0=0;MQRankSum=0.003;QD=10.00;ReadPosRankSum=-1.279;VQSLOD=6.0786;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,51:117:99:1200,0,1967 5 128301971 128301971 T C exonic SLC27A6 synonymous SNV SLC27A6:NM_001017372:exon1:c.T141C:p.Y47Y,SLC27A6:NM_001317984:exon2:c.T141C:p.Y47Y,SLC27A6:NM_014031:exon2:c.T141C:p.Y47Y 0.2 0.17 0.26 0.059 0.37 0.19 0.2919 0.2004 0.2141 0.0663 0.2921 0.3700 0.3259 0.2038 0.32 0.22 0.38 0.16 0.52 rs2577541 COSM4408686 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2915 0.1960 0.2125 0.3965 0.0637 0.2984 0.3750 0.3310 0.2050 0.2866 0.1957 0.2386 0.3742 0.0557 0.2930 0.3616 0.3235 het 2644.62 217 5 128301971 . T C 2644.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.688;DP=217;Dels=0.00;FS=3.084;HRun=0;HaplotypeScore=7.3946;MQ=58.74;MQ0=0;MQRankSum=2.036;QD=12.19;ReadPosRankSum=0.034;VQSLOD=4.5156;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,113:217:99:2675,0,2644 5 128430757 128430757 T C exonic ISOC1 synonymous SNV ISOC1:NM_016048:exon1:c.T298C:p.L100L 0.81 0.97 0.75 0.87 0.6 0.78 0.7043 0.9192 0.8050 0.8736 0.6616 0.6201 0.6650 0.7760 0.71 0.91 0.61 0.72 0.48 rs1127827 COSM3760902 1(oesophagus);2(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6989 0.9222 0.7976 0.6199 0.8790 0.6540 0.6080 0.6686 0.7648 0.7290 0.9181 0.7560 0.6433 0.8888 0.6632 0.6200 0.6875 het 329.68 32 5 128430757 . T C 329.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6644;MQ=59.28;MQ0=0;MQRankSum=-0.361;QD=10.30;ReadPosRankSum=0.171;VQSLOD=6.6498;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,14:32:99:360,0,572 5 128863471 128863471 A G exonic ADAMTS19 nonsynonymous SNV ADAMTS19:NM_133638:exon5:c.A1117G:p.S373G 1. 1. 1. 1. 1. 1. 0.9954 0.9996 0.9969 1 0.9977 0.9933 0.9944 0.9969 1. 1. 0.99 1. 0.66 rs6595908 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.765 0.000 N -0.06 0.636 T 5.38 0.000 N 0.065 0.051 -0.956 0.400 T 0.000 0.000 T . . . 1.132 0.203 11.39 0.845 0.148 0.057 0.115 N c -0.633 -0.347 0.005 0.109 0.706 0.609 0 4.41 0.524 5.505 0.665 0.138 0.222 1.000 0.715 0.997 0.653 11.874 0.516 Metallopeptidase\x2c catalytic domain|Peptidase M12B\x2c ADAM/reprolysin . . 0.9960 0.9993 0.9971 0.9997 1 0.9982 0.9937 0.9955 0.9965 0.9973 0.9994 1 0.9967 1 0.9970 0.9958 0.9969 hom 2285.93 85 5 128863471 . A G 2285.93 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4972;MQ=59.01;MQ0=0;QD=26.89;VQSLOD=6.9401;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2319,169,0 5 129040056 129040056 A T exonic ADAMTS19 nonsynonymous SNV ADAMTS19:NM_133638:exon21:c.A3284T:p.Y1095F 0.071 0.0083 0.1 0.002 0.16 0.11 0.1357 0.0323 0.0818 0.0005 0.1553 0.1824 0.1449 0.1125 0.14 0.04 0.18 0.033 0.23 rs11749126 COSM3736365 1(skin) . . . . . . . . . . . 0.149 0.247 T 0.058 0.215 B 0.022 0.184 B 0.000 0.629 D 0.000 0.494 P 1.285 0.324 L 0.19 0.603 T -1.64 0.393 N 0.289 0.348 -1.088 0.058 T 0.000 0.001 T . . . 2.498 0.361 19.45 0.968 0.305 0.912 0.527 D c -0.102 0.058 0.971 0.292 0.707 0.730 0 4.29 0.502 3.718 0.544 1.199 0.960 0.997 0.399 0.997 0.653 14.489 0.671 . . . 0.1346 0.0311 0.0828 0.1109 0.0004 0.1510 0.1905 0.1355 0.1108 0.1249 0.0344 0.1014 0.0993 0 0.1551 0.1838 0.1558 het 2348.29 182 5 129040056 . A T 2348.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.755;DP=182;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7232;MQ=59.75;MQ0=0;MQRankSum=0.978;QD=12.90;ReadPosRankSum=1.651;VQSLOD=4.2919;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:93,89:182:99:2378,0,2442 5 129521126 129521126 A G exonic CHSY3 nonsynonymous SNV CHSY3:NM_175856:exon3:c.A2291G:p.D764G 0.57 0.23 0.67 0.66 0.76 0.65 0.6882 0.3247 0.6574 0.6490 0.7446 0.7500 0.7368 0.6824 0.61 0.34 0.75 0.48 0.79 rs2015018 COSM4003281 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.139 0.257 T 0.001 0.067 B 0.001 0.040 B 0.339 0.140 N 0.792 0.292 P 1.005 0.253 L 2.4 0.156 T -1.56 0.377 N 0.03 0.011 -1.047 0.153 T 0.000 0.000 T . . . -0.364 0.064 0.472 0.824 0.137 0.836 0.424 D c -0.786 -0.777 0.000 0.042 0.638 0.428 0 1.72 0.234 2.906 0.482 -0.214 0.099 1.000 0.715 0.299 0.237 6.830 0.229 Nucleotide-diphospho-sugar transferases . . 0.6974 0.3220 0.6704 0.7669 0.6493 0.7464 0.7509 0.7389 0.6815 0.6116 0.3374 0.6842 0.7867 0.6161 0.7352 0.7273 0.7168 het 1760.24 130 5 129521126 . A G 1760.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.594;DP=130;Dels=0.00;FS=11.159;HRun=1;HaplotypeScore=3.7304;MQ=58.71;MQ0=0;MQRankSum=-0.892;QD=13.54;ReadPosRankSum=0.453;VQSLOD=4.2015;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,67:130:99:1790,0,1593 5 130766662 130766662 T C exonic RAPGEF6 nonsynonymous SNV RAPGEF6:NM_016340:exon26:c.A4355G:p.Q1452R,RAPGEF6:NM_001164386:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164388:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164387:exon28:c.A4394G:p.Q1465R 0.9 0.98 0.9 0.9 0.83 0.85 0.8598 0.9629 0.8931 0.8893 0.8296 0.8372 0.8447 0.8606 0.88 0.96 0.84 0.94 0.77 rs1291602 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.999 0.211 P -1.955 0.002 N 2.77 0.114 T 0.95 0.015 N 0.061 0.059 -0.959 0.393 T 0.000 0.000 T . . . 0.699 0.161 8.821 0.847 0.149 0.159 0.189 N c -0.762 -0.430 1.000 0.747 0.719 0.830 0 5.22 0.722 4.828 0.622 0.069 0.176 1.000 0.715 0.980 0.490 14.342 0.660 . ENSG00000158985.9|ENSG00000158985.9|ENSG00000158987.15|ENSG00000158985.9 Artery_Aorta|Artery_Tibial|Testis|Thyroid 0.8608 0.9651 0.8920 0.8938 0.8876 0.8264 0.8372 0.8584 0.8603 0.8759 0.9603 0.8822 0.8808 0.8748 0.8193 0.8401 0.8676 hom 6795.46 224 5 130766662 . T C 6795.46 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2517;MQ=59.60;MQ0=0;QD=30.34;VQSLOD=8.6210;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,224:224:99:6794,551,0 5 131008194 131008194 T C exonic FNIP1 nonsynonymous SNV FNIP1:NM_001008738:exon13:c.A1859G:p.Q620R,FNIP1:NM_001346114:exon13:c.A1808G:p.Q603R,FNIP1:NM_133372:exon14:c.A1943G:p.Q648R 0.87 0.9 0.81 0.79 0.94 0.87 0.8901 0.9030 0.7325 0.7947 0.8781 0.9324 0.9141 0.8753 0.93 0.9 0.94 0.87 0.97 rs26008 . . . . . . . . . . . . . 0.805 0.031 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.227 P 0 0.065 N 2.62 0.130 T 0.02 0.068 N 0.007 0.005 -1.005 0.285 T 0.000 0.000 T . . . -1.940 0.009 0.001 0.728 0.098 0.035 0.085 N c -1.284 -1.267 1.000 0.747 0.507 0.198 0 -1.92 0.072 -0.007 0.126 -0.597 0.044 0.018 0.193 0.714 0.313 14.746 0.690 . ENSG00000239642.1 Whole_Blood 0.8845 0.9042 0.7502 0.9317 0.7933 0.8775 0.9357 0.9033 0.8756 0.9031 0.9010 0.8067 0.9570 0.8014 0.8812 0.9252 0.8939 hom 6524.73 211 5 131008194 . T C 6524.73 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9920;MQ=59.34;MQ0=0;QD=30.92;VQSLOD=8.9989;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:6524,533,0 5 131066725 131066725 C A exonic FNIP1 nonsynonymous SNV FNIP1:NM_001008738:exon3:c.G226T:p.G76C,FNIP1:NM_001346113:exon3:c.G226T:p.G76C,FNIP1:NM_133372:exon3:c.G226T:p.G76C 1. 1. 1. 1. 0.99 1. 0.9957 0.9990 0.9996 0.9999 0.9806 0.9946 0.9967 0.9990 1. 1. 1. 1. 0.98 rs7730228 . . . . . . . . . . . . . 0.474 0.191 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P 0.345 0.112 N 0.97 0.425 T 1.56 0.007 N 0.074 0.291 -0.974 0.364 T 0.000 0.000 T . . . 3.263 0.451 22.8 0.436 0.033 0.181 0.199 N c -0.510 -0.272 0.014 0.125 0.651 0.465 0 5.16 0.704 3.808 0.551 0.242 0.267 1.000 0.715 0.998 0.697 11.428 0.491 Folliculin-interacting protein\x2c N-terminal domain . . 0.9957 0.9991 0.9988 0.9956 0.9999 0.9833 0.9952 0.9958 0.9991 0.9944 0.9998 0.9988 0.9967 1 0.9831 0.9932 0.9919 hom 2675.71 84 5 131066725 . C A 2675.71 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;QD=31.85;VQSLOD=9.0590;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2709,211,0 5 131602166 131602166 T C exonic PDLIM4 synonymous SNV PDLIM4:NM_001131027:exon3:c.T255C:p.G85G,PDLIM4:NM_003687:exon3:c.T255C:p.G85G 0.48 0.59 0.51 0.38 0.61 0.3 0.5389 0.5965 0.4201 0.3299 0.4834 0.6352 0.5223 0.3293 0.63 0.6 0.65 0.56 0.6 rs1007602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5347 0.5961 0.4295 0.6508 0.3375 0.4768 0.6445 0.5727 0.3319 0.5808 0.6020 0.4928 0.68 0.3051 0.4736 0.6274 0.5645 hom 2118.57 68 5 131602166 . T C 2118.57 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.73;MQ0=0;QD=31.16;VQSLOD=9.3742;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2152,163,0 5 131663062 131663062 T C exonic SLC22A4 nonsynonymous SNV SLC22A4:NM_003059:exon5:c.T917C:p.I306T 0.55 0.77 0.68 0.35 0.59 0.34 0.5767 0.7433 0.6920 0.3759 0.5005 0.6133 0.5342 0.3808 0.66 0.74 0.62 0.66 0.58 rs272893 COSM3760910 1(large_intestine) . . . . . . . . . . . 0.046 0.405 D 0.002 0.090 B 0.012 0.149 B 0.506 0.119 N 1 0.090 P 1.075 0.273 L -0.75 0.733 T -3.38 0.667 D 0.034 0.014 -0.982 0.344 T 0.000 0.000 T . . . 1.357 0.227 12.57 0.890 0.178 0.339 0.247 N c -0.867 -0.887 0.999 0.384 0.651 0.465 0 -1.15 0.092 2.299 0.430 1.061 0.807 0.030 0.202 0.670 0.303 4.280 0.102 Major facilitator superfamily domain ENSG00000131435.8|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000072682.14|ENSG00000233006.2|ENSG00000237714.1|ENSG00000072682.14|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000131435.8|ENSG00000197375.8|ENSG00000233006.2|ENSG00000237714.1|ENSG00000233006.2|ENSG00000197375.8|ENSG00000072682.14|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000197375.8|ENSG00000233006.2|ENSG00000197208.5|ENSG00000237714.1|ENSG00000233006.2|ENSG00000072682.14|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000197375.8|ENSG00000131435.8|ENSG00000233006.2|ENSG00000197375.8|ENSG00000233006.2|ENSG00000131435.8|ENSG00000233006.2|ENSG00000237714.1|ENSG00000233006.2|ENSG00000197208.5|ENSG00000072682.14|ENSG00000234290.2|ENSG00000197375.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5778 0.7472 0.6915 0.6014 0.3737 0.4952 0.6194 0.5924 0.3833 0.6142 0.7474 0.6782 0.6324 0.3620 0.4920 0.5925 0.5531 hom 1821.07 64 5 131663062 . T C 1821.07 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9970;MQ=58.26;MQ0=0;QD=28.45;VQSLOD=8.2874;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1854,141,0 5 131670546 131670546 C G ex