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Chr Start End Ref Alt Func Gene GeneDetail ExonicFunc AAChange 1000G ALL 1000G AFR 1000G AMR 1000G EAS 1000G EUR 1000G SAS ExAC Freq ExAC AFR ExAC AMR ExAC EAS ExAC FIN ExAC NFE ExAC OTH ExAC SAS ESP6500si ALL ESP6500si AA ESP6500si EA CG46 NCI60 dbSNP COSMIC ID COSMIC DIS ClinVar SIG ClinVar DIS ClinVar STATUS ClinVar ID ClinVar DB ClinVar DBID GWAS DIS GWAS OR GWAS BETA GWAS PUBMED GWAS SNP GWAS P SIFT score SIFT pred Polyphen2 HDIV score Polyphen2 HDIV pred Polyphen2 HVAR score Polyphen2 HVAR pred LRT score LRT pred MutationTaster score MutationTaster pred MutationAssessor score MutationAssessor pred FATHMM score FATHMM pred RadialSVM score RadialSVM pred LR score LR pred VEST3 score CADD raw CADD phred GERP++ RS phyloP46way placental phyloP100way vertebrate SiPhy 29way logOdds Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo
1 881627 881627 G A exonic NOC2L synonymous SNV NOC2L:NM_015658:exon16:c.C1843T:p.L615L 0.44 0.064 0.44 0.62 0.63 0.57 0.5653 0.1397 0.4840 0.6560 0.6221 0.6283 0.5737 0.5648 0.47 0.16 0.64 0.42 0.52 rs2272757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 2284.93 67 1 881627 . G A 2284.93 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6594;MQ=59.10;MQ0=0;QD=34.10;VQSLOD=9.2260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2318,184,0
1 881918 881918 G A exonic NOC2L nonsynonymous SNV NOC2L:NM_015658:exon15:c.C1667T:p.S556L 0.029 0.0038 0.026 . 0.057 0.069 0.0470 0.0114 0.0212 0.0002 0.0264 0.0609 0.0403 0.0657 0.046 0.015 0.062 0.011 0.057 rs35471880 . . . . . . . . . . . . . . 0.03 D 0.81 P 0.183 B 0.000 D 0.999 D 1.655 L 0.92 T -1.137 T 0.012 T 0.163 2.503 14.33 4.09 1.097 7.449 12.671 het 861.50 83 1 881918 . G A 861.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.048;DP=83;Dels=0.00;FS=1.848;HRun=1;HaplotypeScore=0.7887;MQ=58.53;MQ0=0;MQRankSum=0.265;QD=10.38;ReadPosRankSum=-0.749;VQSLOD=5.7609;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,33:83:99:891,0,1300
1 887801 887801 A G exonic NOC2L synonymous SNV NOC2L:NM_015658:exon10:c.T1182C:p.T394T 0.92 0.91 0.92 0.92 0.95 0.92 0.9355 0.9094 0.9558 0.9127 0.9599 0.9406 0.9521 0.9184 0.93 0.91 0.94 0.91 0.87 rs3828047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1723.16 53 1 887801 . A G 1723.16 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8154;MQ=57.26;MQ0=0;QD=32.51;VQSLOD=6.9285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1756,138,0
1 888639 888639 T C exonic NOC2L synonymous SNV NOC2L:NM_015658:exon9:c.A918G:p.E306E 0.92 0.91 0.92 0.92 0.95 0.92 0.9356 0.9096 0.9558 0.9124 0.9601 0.9407 0.9511 0.9184 0.93 0.91 0.94 0.91 0.87 rs3748596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1861.39 59 1 888639 . T C 1861.39 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.83;MQ0=0;QD=31.55;VQSLOD=7.5017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1894,150,0
1 888659 888659 T C exonic NOC2L nonsynonymous SNV NOC2L:NM_015658:exon9:c.A898G:p.I300V 0.92 0.91 0.92 0.92 0.95 0.92 0.9355 0.9096 0.9557 0.9126 0.9600 0.9407 0.9509 0.9183 0.93 0.91 0.94 0.91 0.87 rs3748597 . . . . . . . . . . . . . . 1 T 0.0 B 0.0 B 0.070 N 1.000 P -2.24 N -0.39 T -0.957 T 0.000 T 0.091 -2.241 0.004 4.28 0.578 0.538 7.695 hom 1257.45 39 1 888659 . T C 1257.45 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.53;MQ0=0;QD=32.24;VQSLOD=8.1358;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1290,105,0
1 897325 897325 G C exonic KLHL17 synonymous SNV KLHL17:NM_198317:exon4:c.G609C:p.A203A 0.86 0.7 0.88 0.92 0.94 0.92 0.9077 0.7210 0.9401 0.9079 0.9345 0.9261 0.9283 0.9161 0.86 0.73 0.93 0.77 0.85 rs4970441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 4465.20 148 1 897325 . G C 4465.20 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4583;MQ=59.34;MQ0=0;QD=30.17;VQSLOD=7.0370;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,146:148:99:4430,340,0
1 909238 909238 G C exonic PLEKHN1 nonsynonymous SNV PLEKHN1:NM_001160184:exon13:c.G1355C:p.R452P,PLEKHN1:NM_032129:exon14:c.G1460C:p.R487P 0.78 0.82 0.69 0.89 0.62 0.83 0.6685 0.7890 0.6912 0.8778 0.5664 0.5916 0.6964 0.8120 0.65 0.78 0.58 0.84 0.45 rs3829740 . . . . . . . . . . . . . . 0.28 T 0.0 B 0.0 B 0.414 N 1.000 P -0.55 N 1.0 T -1.043 T 0.000 T 0.09 -0.295 2.592 2.45 0.456 0.311 2.650 het 1019.26 66 1 909238 . G C 1019.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.146;DP=66;Dels=0.00;FS=0.949;HRun=1;HaplotypeScore=0.9665;MQ=60.00;MQ0=0;MQRankSum=0.201;QD=15.44;ReadPosRankSum=-0.590;VQSLOD=6.1256;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,38:66:99:1049,0,717
1 949654 949654 A G exonic ISG15 synonymous SNV ISG15:NM_005101:exon2:c.A294G:p.V98V 0.83 0.51 0.92 0.93 0.95 0.96 0.9122 0.5636 0.9528 0.9254 0.9472 0.9446 0.9202 0.9501 0.82 0.57 0.95 0.69 0.83 rs8997 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 2541.96 76 1 949654 . A G 2541.96 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3692;MQ=59.39;MQ0=0;QD=33.45;VQSLOD=9.1752;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2575,208,0
1 978762 978762 G A exonic AGRN nonsynonymous SNV AGRN:NM_198576:exon8:c.G1528A:p.G510S 0.003 0.0015 0.0043 . 0.0099 . 0.0083 0.0027 0.0043 0 0.0110 0.0123 0.0076 0.0019 0.0092 0.0025 0.013 . . rs138288952 . . . . . . . . . . . . . . 0.51 T 0.991 D 0.949 D 0.000 D 1.000 D 0.49 N 3.85 T -0.773 T 0.014 T 0.185 3.177 16.63 4.76 2.195 3.205 17.782 het 224.89 20 1 978762 . G A 224.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.821;DP=20;Dels=0.00;FS=2.392;HRun=0;HaplotypeScore=7.6397;MQ=58.84;MQ0=0;MQRankSum=-0.222;QD=11.24;ReadPosRankSum=1.288;VQSLOD=2.8342;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:10,9:20:99:255,0,244
1 981931 981931 A G exonic AGRN synonymous SNV AGRN:NM_198576:exon18:c.A3066G:p.S1022S 0.8 0.46 0.89 0.96 0.91 0.91 0.8767 0.5130 0.9312 0.9649 0.9266 0.9018 0.8983 0.8890 0.78 0.53 0.91 0.2 0.73 rs2465128 . . non-pathogenic not_specified single RCV000116259.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 951.32 32 1 981931 . A G 951.32 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=29.73;VQSLOD=8.3029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.24:984,81,0
1 982994 982994 T C exonic AGRN synonymous SNV AGRN:NM_198576:exon21:c.T3558C:p.F1186F 0.84 0.52 0.9 1. 0.92 0.97 0.8989 0.5354 0.9420 0.9995 0.9490 0.9151 0.9256 0.9543 0.79 0.54 0.92 0.72 0.86 rs10267 . . non-pathogenic not_specified single RCV000116264.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 4089.18 131 1 982994 . T C 4089.18 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7449;MQ=58.65;MQ0=0;QD=31.22;VQSLOD=7.9157;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,130:131:99:4089,319,0
1 1158631 1158631 A G exonic SDF4 synonymous SNV SDF4:NM_016176:exon4:c.T570C:p.D190D,SDF4:NM_016547:exon4:c.T570C:p.D190D 0.95 1. 0.93 1. 0.86 0.96 0.9166 0.9825 0.9568 0.9998 0.8569 0.8864 0.9106 0.9499 0.92 0.98 0.89 0.96 0.79 rs6603781 . . . . . . . . . . . . . . . . . . . . . . 0.000 P . . . . . . . . . -1.117 0.128 -8.16 -2.462 -0.115 17.336 hom 3725.20 124 1 1158631 . A G 3725.20 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5233;MQ=60.00;MQ0=0;QD=30.04;VQSLOD=8.5809;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:124:99:3724,322,0
1 1222963 1222963 C T exonic SCNN1D synonymous SNV SCNN1D:NM_001130413:exon10:c.C1386T:p.P462P 0.009 0.0015 0.0072 . 0.02 0.018 0.0140 0.0036 0.0051 0.0002 0.0096 0.0180 0.0187 0.0227 0.014 0.0034 0.019 0.011 0.057 rs74735644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1374.17 95 1 1222963 . C T 1374.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.531;DP=95;Dels=0.00;FS=3.021;HRun=0;HaplotypeScore=3.8646;MQ=60.00;MQ0=0;MQRankSum=1.578;QD=14.46;ReadPosRankSum=0.595;VQSLOD=4.4969;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,53:95:99:1404,0,1003
1 1249187 1249187 G A exonic CPSF3L synonymous SNV CPSF3L:NM_001256462:exon7:c.C588T:p.F196F,CPSF3L:NM_001256463:exon7:c.C579T:p.F193F,CPSF3L:NM_017871:exon9:c.C882T:p.F294F,CPSF3L:NM_001256460:exon10:c.C795T:p.F265F,CPSF3L:NM_001256456:exon11:c.C900T:p.F300F 0.31 0.065 0.44 0.019 0.81 0.34 0.5791 0.1560 0.3152 0.0138 0.7382 0.7965 0.6473 0.3875 0.59 0.17 0.8 0.28 0.84 rs12142199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 4417.18 135 1 1249187 . G A 4417.18 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.9937;MQ=59.38;MQ0=0;QD=32.72;VQSLOD=9.2520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4417,346,0
1 1254841 1254841 C G exonic CPSF3L synonymous SNV CPSF3L:NM_017871:exon4:c.G264C:p.G88G,CPSF3L:NM_001256460:exon5:c.G177C:p.G59G,CPSF3L:NM_001256456:exon6:c.G282C:p.G94G 0.71 0.3 0.85 0.84 0.92 0.83 0.8476 0.3848 0.7911 0.8258 0.8814 0.9295 0.8330 0.8477 0.75 0.4 0.93 0.59 0.85 rs10907179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 4734.14 141 1 1254841 . C G 4734.14 Mask AC=2;AF=1.00;AN=2;DP=141;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.4913;MQ=59.14;MQ0=0;QD=33.58;VQSLOD=8.7662;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4734,373,0
1 1262966 1262966 C T exonic CPTP synonymous SNV CPTP:NM_001029885:exon3:c.C468T:p.R156R 0.76 0.48 0.87 0.83 0.92 0.83 0.8716 0.6069 0.8069 0.8336 0.8795 0.9301 0.8512 0.8483 0.81 0.58 0.93 0.69 0.84 rs307349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1352.95 41 1 1262966 . C T 1352.95 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.00;VQSLOD=13.7986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:41:99:1386,120,0
1 1269554 1269554 T C exonic TAS1R3 nonsynonymous SNV TAS1R3:NM_152228:exon6:c.T2269C:p.C757R 0.95 0.98 0.98 0.91 0.97 0.92 0.9613 0.9873 0.988 0.9128 0.9366 0.9721 0.9321 0.9239 0.98 0.99 0.97 0.98 0.78 rs307377 . . . . . . . . . . . . . . 0.33 T 0.0 B 0.0 B 0.048 N 1.000 P -1.79 N -2.22 D -0.948 T 0.000 T 0.141 -2.570 0.003 -0.839 -0.627 0.423 1.084 hom 912.95 26 1 1269554 . T C 912.95 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=35.11;VQSLOD=9.2646;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:78.23:946,78,0
1 1425700 1425700 T C exonic ATAD3B synonymous SNV ATAD3B:NM_001317238:exon12:c.T1263C:p.I421I,ATAD3B:NM_031921:exon14:c.T1401C:p.I467I 0.49 0.85 0.34 0.62 0.099 0.36 0.2546 0.7544 0.3993 0.6331 0.2016 0.0867 0.2287 0.3351 0.3 0.73 0.083 0.53 0.074 rs819980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1404.29 144 1 1425700 . T C 1404.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.147;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1669;MQ=58.73;MQ0=0;MQRankSum=0.018;QD=9.75;ReadPosRankSum=-1.253;VQSLOD=5.9270;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,60:144:99:1434,0,2525
1 1430985 1430985 C T exonic ATAD3B nonsynonymous SNV ATAD3B:NM_001317238:exon14:c.C1597T:p.R533C,ATAD3B:NM_031921:exon16:c.C1735T:p.R579C 0.079 0.037 0.091 0.13 0.058 0.098 0.0760 0.0344 0.1495 0.1308 0.1019 0.0565 0.0824 0.0893 0.048 0.033 0.056 0.087 0.025 rs139902189 . . . . . . . . . . . . . . 0.02 D 0.99 D 0.556 P 0.732 U 1.000 P 1.1 L -3.31 D -0.688 T 0.024 T 0.136 1.373 10.52 0.203 0.070 -2.162 3.358 het 993.69 87 1 1430985 . C T 993.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.170;DP=87;Dels=0.00;FS=0.998;HRun=0;HaplotypeScore=3.9004;MQ=59.25;MQ0=0;MQRankSum=0.999;QD=11.42;ReadPosRankSum=-0.004;VQSLOD=4.5955;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,40:87:99:1024,0,1117
1 1479333 1479333 A G exonic SSU72 synonymous SNV SSU72:NM_014188:exon4:c.T399C:p.P133P 0.69 0.91 0.56 0.87 0.31 0.71 0.4601 0.8304 0.5888 0.8837 0.3289 0.2840 0.4447 0.6767 0.47 0.82 0.29 0.67 0.24 rs7533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1254.51 102 1 1479333 . A G 1254.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.293;DP=102;Dels=0.00;FS=2.574;HRun=2;HaplotypeScore=3.7255;MQ=58.81;MQ0=0;MQRankSum=0.405;QD=12.30;ReadPosRankSum=-0.385;VQSLOD=5.7718;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,48:102:99:1285,0,1488
1 1551927 1551927 T C exonic MIB2 nonsynonymous SNV MIB2:NM_001170686:exon2:c.T214C:p.F72L,MIB2:NM_001170687:exon2:c.T214C:p.F72L,MIB2:NM_001170688:exon2:c.T214C:p.F72L,MIB2:NM_080875:exon2:c.T214C:p.F72L 0.48 0.54 0.48 0.21 0.71 0.44 0.6228 0.5830 0.3726 0.2442 0.7421 0.7375 0.6557 0.5010 0.67 0.56 0.72 0.54 0.61 rs7418389 . . . . . . . . . . . . . . 1 T 0.0 B 0.0 B . . 0.999 P 0 N 1.45 T -0.931 T 0.000 T 0.099 -0.435 1.975 0.364 0.044 0.221 1.104 hom 899.80 35 1 1551927 . T C 899.80 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3990;MQ=58.26;MQ0=0;QD=25.71;VQSLOD=5.6157;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:69.22:933,69,0
1 1558792 1558792 T C exonic MIB2 nonsynonymous SNV MIB2:NM_001170686:exon3:c.T305C:p.M102T,MIB2:NM_001170688:exon3:c.T305C:p.M102T,MIB2:NM_080875:exon3:c.T305C:p.M102T 0.77 0.71 0.87 0.55 0.94 0.86 0.8797 0.7673 0.8125 0.6241 0.9004 0.9411 0.9115 0.8605 0.89 0.77 0.94 0.76 0.6 rs12755088 . . . . . . . . . . . . . . 0.31 T 0.013 B 0.004 B 0.135 U 1.000 P 0 N 1.44 T -1.000 T 0.000 T 0.13 0.617 7.321 -2.47 -0.339 . 4.729 hom 357.42 16 1 1558792 . T C 357.42 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=22.34;VQSLOD=13.1025;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:33.08:390,33,0
1 1647893 1647893 - TTTCTT exonic CDK11A,CDK11B nonframeshift insertion CDK11B:NM_001291345:exon5:c.349_350insAAGAAA:p.R117delinsKER,CDK11A:NM_001313896:exon5:c.349_350insAAGAAA:p.R117delinsKER,CDK11A:NM_001313982:exon5:c.349_350insAAGAAA:p.R117delinsKER,CDK11B:NM_001787:exon5:c.379_380insAAGAAA:p.R127delinsKER,CDK11A:NM_024011:exon5:c.379_380insAAGAAA:p.R127delinsKER,CDK11B:NM_033486:exon5:c.379_380insAAGAAA:p.R127delinsKER,CDK11A:NM_033529:exon5:c.349_350insAAGAAA:p.R117delinsKER,CDK11B:NM_033489:exon6:c.277_278insAAGAAA:p.R93delinsKER . . . . . . 0.4974 0.4974 0.4983 0.4938 0.4982 0.4969 0.4989 0.4998 . . . . . rs199866927 COSM1335905;COSM1335906 2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1790.86 100 1 1647893 . C CTTTCTT 1790.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.605;DP=100;FS=10.963;HRun=0;HaplotypeScore=620.7623;MQ=52.65;MQ0=0;MQRankSum=-6.299;QD=17.56;ReadPosRankSum=-0.015;set=variant2 GT:AD:DP:GQ:PL 0/1:81,16:100:99:1830,0,3732
1 1686040 1686040 G T exonic NADK nonsynonymous SNV NADK:NM_001198995:exon6:c.C690A:p.N230K,NADK:NM_001198993:exon8:c.C786A:p.N262K,NADK:NM_023018:exon8:c.C786A:p.N262K,NADK:NM_001198994:exon10:c.C1221A:p.N407K 0.25 0.05 0.27 0.28 0.41 0.31 0.3564 0.0973 0.2580 0.2600 0.3780 0.4307 0.3789 0.3291 0.32 0.11 0.42 0.18 0.37 rs4751 . . . . . . . . . . . . . . 0.45 T 0.562 P 0.229 B 0.000 D 0.867 P 1.59 L 0.94 T -0.956 T 0.000 T 0.099 0.426 6.316 -1.93 -0.622 -0.842 13.146 hom 5146.84 153 1 1686040 . G T 5146.84 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.2100;MQ=59.88;MQ0=0;QD=33.64;VQSLOD=8.4095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:5146,397,0
1 1916890 1916890 C T exonic CFAP74 synonymous SNV CFAP74:NM_001304360:exon6:c.G435A:p.L145L 0.44 0.66 0.28 0.43 0.31 0.39 0.3733 0.6239 0.2815 0.4395 0.3922 0.3375 0.3460 0.3930 0.41 0.58 0.33 0.51 0.28 rs3795280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 2498.65 202 1 1916890 . C T 2498.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.409;DP=202;Dels=0.00;FS=2.513;HRun=0;HaplotypeScore=2.8715;MQ=59.77;MQ0=0;MQRankSum=-1.208;QD=12.37;ReadPosRankSum=-1.205;VQSLOD=5.3726;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,98:202:99:2529,0,2768
1 1957037 1957037 T C exonic GABRD synonymous SNV GABRD:NM_000815:exon4:c.T330C:p.G110G 0.56 0.75 0.51 0.35 0.68 0.44 0.5934 0.7290 0.4569 0.3148 0.6309 0.6578 0.6473 0.4732 0.68 0.73 0.66 0.53 0.72 rs2229110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 5016.54 157 1 1957037 . T C 5016.54 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7050;MQ=59.44;MQ0=0;QD=31.95;VQSLOD=7.7508;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5016,391,0
1 2161153 2161153 G A exonic SKI synonymous SNV SKI:NM_003036:exon1:c.G948A:p.K316K . . . . . . 0.0001 0 0.0010 0 0 0.0001 0 0 0.0002 . 0.0002 . . rs368128582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 147.17 14 1 2161153 . G A 147.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.065;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.194;QD=10.51;ReadPosRankSum=2.517;VQSLOD=9.2967;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,6:14:99:177,0,217
1 2340200 2340200 T C exonic PEX10 synonymous SNV PEX10:NM_002617:exon3:c.A291G:p.T97T,PEX10:NM_153818:exon3:c.A291G:p.T97T 0.7 0.57 0.77 0.73 0.79 0.7 0.7714 0.6008 0.7699 0.7265 0.8119 0.8116 0.7595 0.7258 0.74 0.6 0.82 0.54 0.74 rs2494598 . . probable-non-pathogenic not_specified single RCV000117902.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1624.59 51 1 2340200 . T C 1624.59 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2778;MQ=59.55;MQ0=0;QD=31.85;VQSLOD=9.0933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1658,138,0
1 2430617 2430617 C T exonic PLCH2 synonymous SNV PLCH2:NM_001303012:exon19:c.C2448T:p.I816I,PLCH2:NM_001303013:exon19:c.C2589T:p.I863I,PLCH2:NM_014638:exon19:c.C2529T:p.I843I 0.37 0.17 0.45 0.48 0.48 0.33 0.4352 0.2208 0.4693 0.5221 0.4063 0.4689 0.4543 0.3643 0.39 0.22 0.47 0.37 . rs2296442 . . . . . . . . . . . . . . . . . . . . . . 0.000 P . . . . -0.928 T 0.000 T . 0.119 4.641 -1.71 -0.659 -1.564 11.363 het 254.75 33 1 2430617 . C T 254.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.125;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.430;QD=7.72;ReadPosRankSum=0.692;VQSLOD=10.4700;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,12:33:99:285,0,540
1 2444414 2444414 G A exonic PANK4 nonsynonymous SNV PANK4:NM_018216:exon13:c.C1664T:p.A555V 0.23 0.014 0.3 0.3 0.39 0.21 0.3141 0.0663 0.2257 0.3693 0.3522 0.3738 0.3457 0.2456 0.27 0.072 0.37 0.21 0.43 rs7535528 . . . . . . . . . . . . . . 0.02 D 0.769 P 0.119 B 0.364 N 1.000 P 1.585 L 3.19 T -0.867 T 0.000 T 0.359 1.822 12.05 5.59 2.635 3.927 18.568 het 2224.67 160 1 2444414 . G A 2224.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.842;DP=160;Dels=0.00;FS=4.777;HRun=0;HaplotypeScore=5.4332;MQ=59.30;MQ0=0;MQRankSum=0.874;QD=13.90;ReadPosRankSum=-1.720;VQSLOD=4.5545;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,83:160:99:2255,0,1884
1 2452569 2452569 T C exonic PANK4 synonymous SNV PANK4:NM_018216:exon3:c.A417G:p.K139K 0.85 0.91 0.81 0.96 0.73 0.79 0.7806 0.9020 0.8555 0.9625 0.6845 0.7384 0.7655 0.7655 0.8 0.9 0.74 0.87 0.71 rs2985862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1909.27 145 1 2452569 . T C 1909.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.430;DP=145;Dels=0.00;FS=2.179;HRun=1;HaplotypeScore=0.0000;MQ=59.79;MQ0=1;MQRankSum=1.065;QD=13.17;ReadPosRankSum=-0.094;VQSLOD=6.5538;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,70:145:99:1939,0,1978
1 2488153 2488153 A G exonic TNFRSF14 nonsynonymous SNV TNFRSF14:NM_001297605:exon1:c.A50G:p.K17R,TNFRSF14:NM_003820:exon1:c.A50G:p.K17R 0.61 0.78 0.53 0.54 0.47 0.67 0.5443 0.7367 0.5341 0.5096 0.5385 0.4939 0.5566 0.6529 0.56 0.73 0.47 0.53 0.38 rs4870 . . untested not_specified not RCV000122164.1 MedGen CN169374 . . . . . . 0.43 T 0.61 P 0.159 B . . 1.000 P 1.61 L -2.17 D -0.931 T 0.000 T 0.176 1.438 10.75 -1.09 -0.205 -0.251 7.533 het 146.56 16 1 2488153 . A G 146.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.573;QD=9.16;ReadPosRankSum=-2.115;VQSLOD=10.0782;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,6:16:99:177,0,265
1 2526746 2526746 A G exonic MMEL1 nonsynonymous SNV MMEL1:NM_033467:exon16:c.T1553C:p.M518T 0.54 0.73 0.49 0.54 0.33 0.54 0.4142 0.6816 0.4535 0.4994 0.3765 0.3345 0.4195 0.5090 0.45 0.68 0.34 0.52 0.27 rs3748816 . . . . . . . . . . . . . . 0.77 T 0.0 B 0.0 B 0.090 N 1.000 P -1.495 N -1.51 D -1.028 T 0.000 T 0.038 -2.756 0 -5.48 -1.671 -3.199 2.161 het 779.20 62 1 2526746 . A G 779.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.317;DP=62;Dels=0.00;FS=1.044;HRun=0;HaplotypeScore=1.8934;MQ=59.63;MQ0=0;MQRankSum=0.063;QD=12.57;ReadPosRankSum=-0.768;VQSLOD=6.7565;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,32:62:99:809,0,840
1 2535613 2535613 C A exonic MMEL1 synonymous SNV MMEL1:NM_033467:exon10:c.G924T:p.V308V 0.5 0.61 0.45 0.53 0.31 0.53 0.3908 0.5739 0.4242 0.4897 0.3592 0.3183 0.4080 0.4999 0.4 0.57 0.32 0.45 0.16 rs4648562 . . . . . . . . . . . . . . . . . . . . . . 0.000 P . . . . . . . . . -0.946 0.350 3.52 0.930 0.369 2.464 het 749.71 64 1 2535613 . C A 749.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.083;DP=64;Dels=0.00;FS=1.422;HRun=1;HaplotypeScore=4.3874;MQ=59.64;MQ0=0;MQRankSum=1.715;QD=11.71;ReadPosRankSum=-1.083;VQSLOD=4.5776;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,30:64:99:780,0,972
1 2541269 2541269 A G exonic MMEL1 synonymous SNV MMEL1:NM_033467:exon5:c.T294C:p.A98A 0.53 0.7 0.49 0.54 0.33 0.53 0.4114 0.6580 0.4510 0.4963 0.3750 0.3330 0.4188 0.5257 0.44 0.66 0.33 0.51 0.23 rs10797440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1438.58 128 1 2541269 . A G 1438.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.886;DP=128;Dels=0.00;FS=0.718;HRun=1;HaplotypeScore=4.5071;MQ=59.64;MQ0=0;MQRankSum=0.983;QD=11.24;ReadPosRankSum=-0.386;VQSLOD=5.7703;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,56:128:99:1469,0,1866
1 2938265 2938265 C T exonic ACTRT2 synonymous SNV ACTRT2:NM_080431:exon1:c.C15T:p.H5H 0.2 0.13 0.24 0.4 0.16 0.11 0.1941 0.1510 0.3204 0.4222 0.1367 0.1753 0.1787 0.1055 0.17 0.14 0.18 0.24 0.17 rs4576609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 995.23 79 1 2938265 . C T 995.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.844;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4661;MQ=59.53;MQ0=0;MQRankSum=0.103;QD=12.60;ReadPosRankSum=-0.958;VQSLOD=5.7858;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,42:79:99:1025,0,925
1 2938408 2938410 AGA - exonic ACTRT2 nonframeshift deletion ACTRT2:NM_080431:exon1:c.158_160del:p.53_54del 0.11 0.011 0.22 0.19 0.16 0.046 0.1552 0.0360 0.3108 0.2243 0.1315 0.1676 0.1456 0.0454 0.12 0.036 0.17 . . rs4013154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1707.72 93 1 2938407 . CAGA C 1707.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.003;DP=93;FS=14.114;HRun=0;HaplotypeScore=363.2259;MQ=56.20;MQ0=0;MQRankSum=-1.278;QD=18.36;ReadPosRankSum=0.166;set=variant2 GT:AD:DP:GQ:PL 0/1:51,42:93:99:1747,0,2678
1 2938697 2938697 T G exonic ACTRT2 synonymous SNV ACTRT2:NM_080431:exon1:c.T447G:p.S149S 0.21 0.17 0.24 0.4 0.16 0.098 0.1923 0.1778 0.3208 0.4170 0.1364 0.1740 0.1786 0.0906 0.18 0.17 0.18 0.25 0.18 rs3795262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1475.26 142 1 2938697 . T G 1475.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.120;DP=142;Dels=0.00;FS=4.136;HRun=1;HaplotypeScore=6.7389;MQ=59.02;MQ0=0;MQRankSum=0.251;QD=10.39;ReadPosRankSum=-3.017;VQSLOD=3.0503;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,60:142:99:1505,0,2410
1 3301721 3301721 C T exonic PRDM16 synonymous SNV PRDM16:NM_022114:exon4:c.C444T:p.S148S,PRDM16:NM_199454:exon4:c.C444T:p.S148S 0.34 0.039 0.33 0.62 0.27 0.54 0.3295 0.0802 0.4145 0.5966 0.3095 0.2706 0.3158 0.5226 0.2 0.082 0.27 0.26 0.22 rs2282198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 2361.94 198 1 3301721 . C T 2361.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.048;DP=198;Dels=0.00;FS=0.546;HRun=0;HaplotypeScore=4.7806;MQ=59.34;MQ0=0;MQRankSum=0.238;QD=11.93;ReadPosRankSum=-0.281;VQSLOD=5.5801;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,86:198:99:2392,0,2971
1 3328358 3328358 T C exonic PRDM16 nonsynonymous SNV PRDM16:NM_022114:exon9:c.T1597C:p.S533P,PRDM16:NM_199454:exon9:c.T1597C:p.S533P 0.95 0.99 0.9 1. 0.84 0.96 0.8897 0.9721 0.9243 0.9998 0.9099 0.8404 0.8873 0.9508 0.88 0.97 0.84 0.91 0.76 rs870124 . . . . . . . . . . . . . . 0.53 T 0.0 B 0.0 B 0.005 N 0.821 P -0.55 N 3.42 T -0.955 T 0.000 T 0.028 -0.285 2.636 5.33 1.290 1.977 14.274 hom 6598.71 212 1 3328358 . T C 6598.71 Mask AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4079;MQ=59.64;MQ0=0;QD=31.13;VQSLOD=7.4685;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6598,512,0
1 3389727 3389727 C T exonic ARHGEF16 nonsynonymous SNV ARHGEF16:NM_014448:exon7:c.C1108T:p.H370Y 0.68 0.39 0.76 0.67 0.86 0.86 0.8050 0.4548 0.6769 0.6607 0.9028 0.8731 0.8497 0.8753 0.74 0.47 0.87 0.61 0.82 rs2185639 . . . . . . . . . . . . . . 0.71 T 0.011 B 0.038 B 0.000 D 0.000 P 1.355 L 0.07 T -0.940 T 0.000 T 0.255 0.546 6.952 3.43 2.269 2.105 7.811 hom 3696.05 126 1 3389727 . C T 3696.05 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9388;MQ=60.00;MQ0=0;QD=29.33;VQSLOD=5.2251;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,124:126:99:3695,310,0
1 3394456 3394456 T C exonic ARHGEF16 synonymous SNV ARHGEF16:NM_014448:exon11:c.T1491C:p.S497S 0.97 0.9 0.99 1. 1. 1. 0.9903 0.9036 0.9943 1 1 0.9986 0.9944 0.9986 0.97 0.91 1. 0.86 0.98 rs4638054 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 2735.21 93 1 3394456 . T C 2735.21 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;QD=29.41;VQSLOD=8.6753;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2768,220,0
1 3395039 3395039 G A exonic ARHGEF16 synonymous SNV ARHGEF16:NM_014448:exon12:c.G1677A:p.V559V 0.69 0.39 0.76 0.68 0.86 0.86 0.8037 0.4608 0.6739 0.6602 0.9019 0.8707 0.8517 0.8743 0.73 0.47 0.87 0.6 0.81 rs10797395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 6409.18 206 1 3395039 . G A 6409.18 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4783;MQ=59.53;MQ0=0;QD=31.11;VQSLOD=8.9549;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:6408,497,0
1 3428160 3428160 T G exonic MEGF6 synonymous SNV MEGF6:NM_001409:exon9:c.A1068C:p.T356T 0.5 0.75 0.4 0.64 0.29 0.3 0.3713 0.6994 0.4680 0.6653 0.2605 0.2988 0.3200 0.2928 0.42 0.67 0.3 0.62 0.24 rs2820999 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 896.33 66 1 3428160 . T G 896.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.176;DP=66;Dels=0.00;FS=2.605;HRun=1;HaplotypeScore=2.6159;MQ=59.88;MQ0=0;MQRankSum=-0.578;QD=13.58;ReadPosRankSum=0.989;VQSLOD=5.8717;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,31:66:99:926,0,935
1 3428608 3428608 G A exonic MEGF6 nonsynonymous SNV MEGF6:NM_001409:exon8:c.C938T:p.A313V 0.26 0.34 0.19 0.4 0.15 0.14 0.1840 0.3202 0.1761 0.4212 0.1373 0.1513 0.1705 0.1355 0.2 0.3 0.15 0.37 0.2 rs11585362 . . . . . . . . . . . . . . 0.3 T 0.95 P 0.36 B 0.000 D 1.000 P 1.295 L -3.01 D -1.110 T 0.000 T 0.279 1.271 10.15 3.71 0.909 5.545 8.415 het 1665.84 109 1 3428608 . G A 1665.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.690;DP=109;Dels=0.00;FS=3.943;HRun=0;HaplotypeScore=2.5922;MQ=59.10;MQ0=0;MQRankSum=2.449;QD=15.28;ReadPosRankSum=-0.948;VQSLOD=5.0504;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,65:109:99:1696,0,1053
1 3496479 3496479 T C exonic MEGF6 nonsynonymous SNV MEGF6:NM_001409:exon4:c.A391G:p.S131G 0.85 0.87 0.89 0.71 0.92 0.89 0.8831 0.8634 0.8712 0.6875 0.9095 0.9112 0.9132 0.8815 0.9 0.88 0.92 0.85 0.59 rs2794340 . . . . . . . . . . . . . . 0.7 T 0.0 B 0.0 B 0.014 N 0.954 P 0.53 N -2.92 D -0.951 T 0.000 T 0.023 -1.895 0.008 4.35 0.847 0.213 8.494 hom 473.69 20 1 3496479 . T C 473.69 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.520;DP=20;Dels=0.00;FS=5.006;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=1.561;QD=23.68;ReadPosRankSum=1.561;VQSLOD=3.2560;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,19:20:14.70:506,15,0
1 3511934 3511934 A G exonic MEGF6 nonsynonymous SNV MEGF6:NM_001409:exon3:c.T344C:p.M115T 0.23 0.24 0.19 0.33 0.15 0.21 0.1900 0.2205 0.2274 0.3726 0.1567 0.1532 0.1828 0.2087 0.16 0.19 0.14 0.13 0.16 rs7513275 . . . . . . . . . . . . . . 0.92 T 0.0 B 0.0 B 0.702 N 0.000 P -0.205 N -1.75 D -1.101 T 0.000 T 0.051 -1.711 0.011 -0.333 -0.170 0.713 2.150 het 587.91 62 1 3511934 . A G 587.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.029;DP=62;Dels=0.00;FS=4.349;HRun=0;HaplotypeScore=2.7658;MQ=59.02;MQ0=0;MQRankSum=1.366;QD=9.48;ReadPosRankSum=0.955;VQSLOD=5.2348;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,27:62:99:618,0,768
1 3548136 3548136 T C exonic WRAP73 synonymous SNV WRAP73:NM_017818:exon11:c.A1134G:p.A378A 0.91 0.89 0.85 0.99 0.84 0.95 0.8727 0.8771 0.8693 0.9971 0.8891 0.8402 0.8681 0.9303 0.85 0.88 0.84 0.77 0.79 rs2760321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 698.35 66 1 3548136 . T C 698.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.177;DP=66;Dels=0.00;FS=7.734;HRun=0;HaplotypeScore=3.5362;MQ=58.89;MQ0=0;MQRankSum=1.298;QD=10.58;ReadPosRankSum=-1.231;VQSLOD=4.5648;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,28:66:99:728,0,1070
1 3638674 3638674 C T exonic TP73 synonymous SNV TP73:NM_001126240:exon3:c.C372T:p.T124T,TP73:NM_001126241:exon3:c.C372T:p.T124T,TP73:NM_001126242:exon3:c.C372T:p.T124T,TP73:NM_001204189:exon3:c.C372T:p.T124T,TP73:NM_001204190:exon3:c.C372T:p.T124T,TP73:NM_001204191:exon3:c.C372T:p.T124T,TP73:NM_001204192:exon3:c.C306T:p.T102T,TP73:NM_001204184:exon5:c.C519T:p.T173T,TP73:NM_001204185:exon5:c.C519T:p.T173T,TP73:NM_001204186:exon5:c.C519T:p.T173T,TP73:NM_001204187:exon5:c.C519T:p.T173T,TP73:NM_001204188:exon5:c.C519T:p.T173T,TP73:NM_005427:exon5:c.C519T:p.T173T 0.74 0.77 0.72 0.53 0.91 0.73 0.8101 0.7695 0.6204 0.5180 0.8475 0.8972 0.8303 0.7576 0.85 0.77 0.89 0.79 0.91 rs1801174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 2033.73 144 1 3638674 . C T 2033.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.903;DP=144;Dels=0.00;FS=4.538;HRun=0;HaplotypeScore=9.5367;MQ=58.28;MQ0=0;MQRankSum=1.418;QD=14.12;ReadPosRankSum=-0.559;VQSLOD=3.6388;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,74:144:99:2064,0,1582
1 3745924 3745924 G A exonic CEP104 nonsynonymous SNV CEP104:NM_014704:exon15:c.C2057T:p.A686V 0.21 0.08 0.13 0.52 0.056 0.28 0.1428 0.0947 0.2680 0.5181 0.0941 0.0510 0.1272 0.2774 0.06 0.088 0.046 0.17 0.016 rs2275831 . . . . . . . . . . . . . . 0.3 T 0.061 B 0.019 B 0.019 N 0.000 P 1.155 L 1.05 T -0.916 T 0.000 T 0.082 0.645 7.460 4.39 1.208 2.063 7.149 het 590.05 61 1 3745924 . G A 590.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.974;DP=61;Dels=0.00;FS=2.321;HRun=0;HaplotypeScore=4.6547;MQ=58.46;MQ0=0;MQRankSum=1.787;QD=9.67;ReadPosRankSum=0.007;VQSLOD=5.1125;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,28:61:99:620,0,866
1 3753136 3753136 A T exonic CEP104 nonsynonymous SNV CEP104:NM_014704:exon10:c.T1240A:p.L414I 0.3 0.06 0.49 0.34 0.43 0.33 0.3698 0.1096 0.4091 0.3225 0.3356 0.4291 0.3491 0.3058 0.33 0.12 0.43 0.26 0.47 rs2275824 . . . . . . . . . . . . . . 0.3 T 0.022 B 0.018 B 0.863 N 1.000 P 0 N 2.35 T -0.898 T 0.000 T 0.2 2.179 13.24 -3.25 -0.328 -0.281 2.575 het 2012.37 178 1 3753136 . A T 2012.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.250;DP=178;Dels=0.00;FS=2.004;HRun=0;HaplotypeScore=1.9722;MQ=58.97;MQ0=0;MQRankSum=-0.001;QD=11.31;ReadPosRankSum=-0.254;VQSLOD=5.9230;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,83:178:99:2042,0,2380
1 3755675 3755675 T C exonic CEP104 synonymous SNV CEP104:NM_014704:exon8:c.A744G:p.E248E 0.79 0.92 0.87 0.48 0.94 0.72 0.8584 0.9075 0.7321 0.4837 0.9061 0.9496 0.8733 0.7233 0.94 0.91 0.95 0.83 0.98 rs1891941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 2278.97 163 1 3755675 . T C 2278.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.938;DP=163;Dels=0.00;FS=2.268;HRun=0;HaplotypeScore=3.3471;MQ=58.84;MQ0=0;MQRankSum=1.213;QD=13.98;ReadPosRankSum=-0.090;VQSLOD=6.1581;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,79:163:99:2309,0,2185
1 3761479 3761479 C T exonic CEP104 synonymous SNV CEP104:NM_014704:exon6:c.G558A:p.T186T 0.35 0.23 0.49 0.34 0.43 0.33 0.3832 0.2530 0.4161 0.3233 0.3356 0.4297 0.3557 0.3060 0.38 0.26 0.43 0.38 0.46 rs2275822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1081.43 101 1 3761479 . C T 1081.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.358;DP=101;Dels=0.00;FS=13.589;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;MQRankSum=0.430;QD=10.71;ReadPosRankSum=-0.194;VQSLOD=4.4158;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,45:101:99:1111,0,1420
1 3786189 3786189 G A exonic DFFB synonymous SNV DFFB:NM_001282669:exon5:c.G603A:p.T201T,DFFB:NM_004402:exon5:c.G531A:p.T177T 0.21 0.14 0.23 0.13 0.35 0.26 0.2939 0.1677 0.1520 0.1384 0.3086 0.3653 0.2860 0.2606 0.31 0.18 0.37 0.22 0.3 rs1141070 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1257.72 92 1 3786189 . G A 1257.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.015;DP=92;Dels=0.00;FS=0.798;HRun=0;HaplotypeScore=3.7097;MQ=59.59;MQ0=0;MQRankSum=0.698;QD=13.67;ReadPosRankSum=-0.149;VQSLOD=6.0042;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,44:92:99:1288,0,1235
1 3800242 3800242 A G exonic DFFB synonymous SNV DFFB:NM_001282669:exon7:c.A1026G:p.P342P,DFFB:NM_004402:exon7:c.A954G:p.P318P 0.36 0.31 0.33 0.35 0.41 0.39 0.3971 0.3391 0.2580 0.3335 0.3716 0.4409 0.4108 0.3969 0.41 0.34 0.45 0.4 0.43 rs3205087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 2262.07 232 1 3800242 . A G 2262.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.416;DP=232;DS;Dels=0.00;FS=1.046;HRun=0;HaplotypeScore=11.5315;MQ=58.73;MQ0=0;MQRankSum=2.244;QD=9.75;ReadPosRankSum=1.413;VQSLOD=3.0018;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,96:232:99:2292,0,3572
1 3807593 3807593 G C exonic C1orf174 nonsynonymous SNV C1orf174:NM_207356:exon3:c.C158G:p.T53R 1. 1. 1. 1. 0.99 1. 0.9941 0.9988 0.9980 0.9999 0.9941 0.9912 0.9978 0.9968 0.99 1. 0.99 1. 0.99 rs4274008 . . . . . . . . . . . . . . 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.895 N 3.42 T -1.001 T 0.000 T 0.071 -1.993 0.007 4.36 0.620 0.103 5.550 hom 6394.95 205 1 3807593 . G C 6394.95 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6109;MQ=59.02;MQ0=0;QD=31.19;VQSLOD=6.9033;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:6394,488,0
1 4772717 4772717 G A exonic AJAP1 nonsynonymous SNV AJAP1:NM_001042478:exon2:c.G787A:p.G263R,AJAP1:NM_018836:exon2:c.G787A:p.G263R 0.36 0.17 0.38 0.27 0.64 0.41 0.5284 0.2346 0.2865 0.2568 0.5495 0.6596 0.5527 0.4748 0.52 0.25 0.67 0.46 0.68 rs242056 . . . . . . . . . . . . . . 0.32 T 0.999 D 0.892 P 0.004 N 0.829 P 0.55 N 0.9 T -1.012 T 0.000 T 0.13 1.268 10.14 4.76 2.179 3.781 13.265 het 2517.43 197 1 4772717 . G A 2517.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.649;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1268;MQ=58.31;MQ0=0;MQRankSum=0.293;QD=12.78;ReadPosRankSum=-0.865;VQSLOD=4.3708;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,100:197:99:2547,0,2435
1 5926507 5926507 T C exonic NPHP4 synonymous SNV NPHP4:NM_001291594:exon22:c.A2034G:p.E678E,NPHP4:NM_001291593:exon23:c.A2031G:p.E677E,NPHP4:NM_015102:exon26:c.A3570G:p.E1190E 0.32 0.16 0.38 0.28 0.41 0.43 0.4604 0.2681 0.4606 0.3327 0.4990 0.4929 0.4565 0.4711 0.35 0.2 0.42 0.28 . rs555164 . . non-pathogenic not_specified single RCV000081716.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 161.67 18 1 5926507 . T C 161.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.532;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.133;QD=8.98;ReadPosRankSum=1.022;VQSLOD=11.4778;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:192,0,275
1 5937168 5937168 G A exonic NPHP4 synonymous SNV NPHP4:NM_001291594:exon16:c.C1266T:p.R422R,NPHP4:NM_001291593:exon17:c.C1263T:p.R421R,NPHP4:NM_015102:exon20:c.C2802T:p.R934R 0.45 0.29 0.46 0.73 0.42 0.42 0.4751 0.3408 0.5633 0.7722 0.4541 0.4302 0.4315 0.4962 0.35 0.29 0.38 0.46 . rs3747992 . . non-pathogenic not_specified single RCV000081712.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 324.81 22 1 5937168 . G A 324.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.670;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;MQRankSum=-1.883;QD=14.76;ReadPosRankSum=-0.604;VQSLOD=6.1520;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,13:22:99:355,0,247
1 6046264 6046264 G A exonic NPHP4 nonsynonymous SNV NPHP4:NM_015102:exon2:c.C86T:p.T29M 0.038 0.098 0.0086 0.001 0.027 0.029 0.0323 0.0868 0.0114 0.0002 0.0427 0.0310 0.0361 0.0326 0.043 0.078 0.025 0.022 . rs12142270 . . . . . . . . . . . . . . 0.02 D 0.992 D 0.59 P 0.104 N 1.000 N 1.39 L -2.25 D -0.953 T 0.027 T 0.259 2.013 12.69 3.77 1.408 0.670 9.094 het 720.32 52 1 6046264 . G A 720.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.710;DP=52;Dels=0.00;FS=4.076;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=-0.653;QD=13.85;ReadPosRankSum=1.278;VQSLOD=5.8022;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,29:52:99:750,0,613
1 6158562 6158562 A G exonic KCNAB2 synonymous SNV KCNAB2:NM_001199863:exon14:c.A831G:p.S277S,KCNAB2:NM_172130:exon15:c.A990G:p.S330S,KCNAB2:NM_001199860:exon16:c.A1032G:p.S344S,KCNAB2:NM_001199861:exon16:c.A1032G:p.S344S,KCNAB2:NM_001199862:exon16:c.A1176G:p.S392S,KCNAB2:NM_003636:exon16:c.A1032G:p.S344S 0.54 0.64 0.61 0.4 0.61 0.44 0.5750 0.6385 0.6817 0.4055 0.5546 0.6044 0.5343 0.4419 0.61 0.64 0.6 0.63 0.63 rs2229002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 924.45 98 1 6158562 . A G 924.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.619;DP=98;Dels=0.00;FS=1.679;HRun=0;HaplotypeScore=3.5159;MQ=58.52;MQ0=0;MQRankSum=0.181;QD=9.43;ReadPosRankSum=-0.414;VQSLOD=5.8335;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,39:98:99:954,0,1441
1 6184092 6184092 A G exonic CHD5 nonsynonymous SNV CHD5:NM_015557:exon31:c.T4615C:p.S1539P 0.73 0.61 0.6 0.99 0.6 0.83 0.6570 0.6074 0.6040 0.9969 0.7162 0.5919 0.6765 0.7811 0.59 0.6 0.58 0.63 0.57 rs2843493 . . . . . . . . . . . . . . 0.35 T 0.0 B 0.0 B 0.024 N 1.000 P -0.345 N 2.15 T -0.976 T 0.000 T 0.022 1.539 11.10 3.35 0.939 0.402 6.147 hom 1107.11 36 1 6184092 . A G 1107.11 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;QD=30.75;VQSLOD=9.3692;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:93.27:1140,93,0
1 6196869 6196869 A G exonic CHD5 synonymous SNV CHD5:NM_015557:exon16:c.T2493C:p.I831I 0.52 0.34 0.47 0.8 0.39 0.63 0.4835 0.3458 0.5081 0.7965 0.5425 0.4241 0.5155 0.6030 0.39 0.34 0.41 0.43 0.38 rs2250358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1914.65 68 1 6196869 . A G 1914.65 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;QD=28.16;VQSLOD=8.0494;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:1948,159,0
1 6204161 6204161 G A exonic CHD5 synonymous SNV CHD5:NM_015557:exon12:c.C1857T:p.Y619Y 0.083 0.015 0.21 0.034 0.12 0.096 0.1142 0.0316 0.1675 0.0197 0.1234 0.1296 0.1435 0.1109 0.092 0.033 0.12 0.076 0.066 rs17436816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 3976.52 250 1 6204161 . G A 3976.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.371;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8629;MQ=59.48;MQ0=0;MQRankSum=2.252;QD=15.91;ReadPosRankSum=-0.716;VQSLOD=5.4455;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:124,126:250:99:3340,0,3181
1 6209363 6209363 T C exonic CHD5 synonymous SNV CHD5:NM_015557:exon8:c.A1104G:p.V368V 0.52 0.72 0.21 0.65 0.31 0.56 0.4012 0.6645 0.2514 0.6691 0.4357 0.3113 0.3968 0.5383 0.41 0.65 0.29 0.58 0.34 rs12565328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 981.27 78 1 6209363 . T C 981.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.624;DP=78;Dels=0.00;FS=1.059;HRun=0;HaplotypeScore=1.8920;MQ=59.70;MQ0=0;MQRankSum=-0.225;QD=12.58;ReadPosRankSum=-0.205;VQSLOD=6.7843;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:1011,0,1129
1 6211183 6211183 G A exonic CHD5 synonymous SNV CHD5:NM_015557:exon7:c.C903T:p.F301F 0.51 0.69 0.21 0.65 0.3 0.53 0.3806 0.6243 0.2336 0.6627 0.4215 0.2984 0.3675 0.4989 0.39 0.61 0.28 0.56 0.34 rs9434711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1409.44 99 1 6211183 . G A 1409.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.257;DP=99;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5887;MQ=60.00;MQ0=0;MQRankSum=0.256;QD=14.24;ReadPosRankSum=0.370;VQSLOD=5.6038;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,51:99:99:1439,0,1236
1 6215736 6215736 C G exonic CHD5 synonymous SNV CHD5:NM_015557:exon4:c.G429C:p.L143L 0.15 0.37 0.06 0.0079 0.081 0.13 0.0956 0.3194 0.0390 0.0067 0.0607 0.0791 0.0956 0.1213 0.16 0.32 0.075 0.16 0.11 rs12074369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 924.96 104 1 6215736 . C G 924.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.053;DP=104;Dels=0.00;FS=0.796;HRun=0;HaplotypeScore=0.9992;MQ=59.42;MQ0=0;MQRankSum=1.052;QD=8.89;ReadPosRankSum=-0.707;VQSLOD=5.6722;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,40:104:99:955,0,1884
1 6313938 6313938 C T exonic GPR153 nonsynonymous SNV GPR153:NM_207370:exon3:c.G626A:p.R209H 0.7 0.7 0.79 0.61 0.71 0.7 0.7075 0.7225 0.8217 0.5941 0.7000 0.7036 0.7235 0.6936 . . . 0.63 0.58 rs12735670 . . . . . . . . . . . . . . 0.44 T 0.012 B 0.011 B 0.002 N 0.411 P 0.345 N 0.97 T -1.009 T 0.000 T 0.146 0.246 5.326 2.03 0.147 0.366 7.468 hom 1192.73 36 1 6313938 . C T 1192.73 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.36;MQ0=0;QD=33.13;VQSLOD=9.0164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:99:1226,102,0
1 6314822 6314822 T C exonic GPR153 synonymous SNV GPR153:NM_207370:exon2:c.A144G:p.T48T 0.73 0.81 0.8 0.62 0.71 0.71 0.7092 0.7926 0.8205 0.5927 0.6900 0.6961 0.7195 0.6999 0.73 0.79 0.7 0.7 0.53 rs11590458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 4410.28 140 1 6314822 . T C 4410.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.866;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3171;MQ=59.17;MQ0=0;MQRankSum=-1.658;QD=31.50;ReadPosRankSum=-0.619;VQSLOD=8.2040;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,139:140:99:4378,347,0
1 6614535 6614535 G A exonic NOL9 nonsynonymous SNV NOL9:NM_024654:exon1:c.C28T:p.R10W 0.72 0.43 0.85 0.79 0.86 0.82 0.8446 0.5262 0.9255 0.7922 0.9116 0.8716 0.8178 0.8249 0.79 0.57 0.89 0.62 0.57 rs4908923 . . . . . . . . . . . . . . 0 D 1.0 D 0.925 D 0.092 N 1.000 P 0.805 L 1.96 T -1.090 T 0.000 T 0.238 3.545 18.08 2.15 1.112 0.459 6.737 hom 410.80 20 1 6614535 . G A 410.80 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.84;MQ0=0;QD=20.54;VQSLOD=6.1364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:20:39.09:444,39,0
1 6635231 6635231 A G exonic TAS1R1 nonsynonymous SNV TAS1R1:NM_138697:exon3:c.A1039G:p.K347E 0.92 0.72 0.98 1. 1. 1. 0.9769 0.7550 0.9886 1 1 0.9991 0.9863 0.9989 0.92 0.76 1. 0.85 0.97 rs10864628 . . . . . . . . . . . . . . 1 T 0.056 B 0.028 B 0.834 N 1.000 P 0 N -2.1 D -0.971 T 0.000 T 0.285 -1.577 0.014 -0.461 -0.214 0.442 6.901 hom 1878.02 56 1 6635231 . A G 1878.02 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;QD=33.54;VQSLOD=9.6260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1911,150,0
1 6659505 6659505 G A exonic KLHL21 synonymous SNV KLHL21:NM_014851:exon2:c.C1029T:p.S343S 0.35 0.27 0.31 0.38 0.32 0.48 0.3456 0.2716 0.2667 0.4095 0.2836 0.3385 0.3747 0.4686 0.31 0.27 0.34 0.41 0.31 rs2232460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1146.02 36 1 6659505 . G A 1146.02 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.36;MQ0=0;QD=31.83;VQSLOD=9.0316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:93.28:1179,93,0
1 6693097 6693097 A G exonic THAP3 nonsynonymous SNV THAP3:NM_001195752:exon5:c.A677G:p.Q226R,THAP3:NM_001195753:exon6:c.A680G:p.Q227R 0.37 0.31 0.34 0.39 0.33 0.49 0.3911 0.3605 0.3266 0.4572 0.3063 0.3782 0.3925 0.4864 0.33 0.31 0.34 0.4 . rs3174820 . . . . . . . . . . . . . . 0.83 T 0.0 B 0.0 B 0.000 N 1.000 P -0.695 N -3.4 D -0.934 T 0.000 T 0.022 -1.511 0.017 -7.5 -3.278 -2.490 1.286 het 317.03 28 1 6693097 . A G 317.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.091;DP=28;Dels=0.00;FS=7.402;HRun=3;HaplotypeScore=2.4432;MQ=57.03;MQ0=0;MQRankSum=0.534;QD=11.32;ReadPosRankSum=-1.370;VQSLOD=2.9647;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,12:28:99:347,0,415
1 6704635 6704635 A G exonic DNAJC11 synonymous SNV DNAJC11:NM_018198:exon10:c.T1080C:p.G360G 0.83 0.87 0.96 0.57 0.92 0.87 0.8836 0.8781 0.9655 0.5977 0.8741 0.9093 0.8612 0.8803 0.9 0.88 0.91 0.86 0.87 rs200458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 3233.06 104 1 6704635 . A G 3233.06 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4972;MQ=59.60;MQ0=0;QD=31.09;VQSLOD=9.3102;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3266,271,0
1 7723534 7723534 G A exonic CAMTA1 synonymous SNV CAMTA1:NM_015215:exon9:c.G927A:p.S309S 0.15 0.18 0.25 0.24 0.063 0.051 0.1189 0.1491 0.3579 0.2544 0.0634 0.0714 0.0928 0.0551 0.091 0.14 0.068 0.16 0.041 rs3737907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 3029.02 161 1 7723534 . G A 3029.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.677;DP=161;DS;Dels=0.01;FS=1.408;HRun=0;HaplotypeScore=8.6476;MQ=59.58;MQ0=0;MQRankSum=-1.233;QD=18.70;ReadPosRankSum=-0.032;VQSLOD=3.1087;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,99:161:99:3059,0,1587
1 7723957 7723957 G A exonic CAMTA1 synonymous SNV CAMTA1:NM_015215:exon9:c.G1350A:p.S450S 0.4 0.39 0.45 0.33 0.43 0.42 0.4450 0.3792 0.5023 0.3479 0.5012 0.4652 0.3819 0.3961 0.43 0.37 0.46 0.41 0.4 rs12128526 . . probable-non-pathogenic not_specified single RCV000116536.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 5209.57 148 1 7723957 . G A 5209.57 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.03;MQ0=0;QD=35.20;VQSLOD=8.9071;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:5209,412,0
1 7870048 7870048 T C exonic PER3 synonymous SNV PER3:NM_001289861:exon12:c.T1338C:p.S446S,PER3:NM_001289862:exon12:c.T1338C:p.S446S,PER3:NM_001289863:exon12:c.T1338C:p.S446S,PER3:NM_001289864:exon12:c.T381C:p.S127S,PER3:NM_016831:exon12:c.T1335C:p.S445S 0.88 0.97 0.76 0.72 0.93 0.94 0.8916 0.9634 0.6337 0.7226 0.9525 0.9295 0.9207 0.9361 0.94 0.96 0.93 0.85 0.93 rs228669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 4216.30 134 1 7870048 . T C 4216.30 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4287;MQ=59.72;MQ0=0;QD=31.46;VQSLOD=7.3510;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4216,337,0
1 7880683 7880683 T G exonic PER3 nonsynonymous SNV PER3:NM_001289861:exon16:c.T1940G:p.V647G,PER3:NM_001289862:exon16:c.T1940G:p.V647G,PER3:NM_001289863:exon16:c.T1919G:p.V640G,PER3:NM_001289864:exon16:c.T983G:p.V328G,PER3:NM_016831:exon16:c.T1916G:p.V639G 0.12 0.07 0.21 0.0079 0.2 0.16 0.1662 0.0905 0.1862 0.0078 0.2470 0.1838 0.1659 0.1804 0.16 0.096 0.19 0.098 0.2 rs10462020 . . . . . . . . . . . . . . 0 D 0.948 P 0.736 P 0.021 N 1.000 P 2.19 M 1.7 T -1.097 T 0.000 T 0.218 2.753 15.17 -6.91 -1.725 0.680 8.540 het 867.69 82 1 7880683 . T G 867.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.890;DP=82;Dels=0.00;FS=1.960;HRun=1;HaplotypeScore=3.1233;MQ=58.69;MQ0=0;MQRankSum=0.128;QD=10.58;ReadPosRankSum=0.109;VQSLOD=6.2401;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,37:82:99:898,0,1140
1 7887493 7887493 T C exonic PER3 nonsynonymous SNV PER3:NM_001289861:exon18:c.T2504C:p.L835P,PER3:NM_001289862:exon18:c.T2504C:p.L835P,PER3:NM_001289863:exon18:c.T2483C:p.L828P,PER3:NM_001289864:exon18:c.T1547C:p.L516P,PER3:NM_016831:exon18:c.T2480C:p.L827P 0.98 0.98 0.97 1. 0.95 0.98 0.9688 0.9724 0.9892 0.9990 0.9645 0.9591 0.9769 0.9771 0.96 0.97 0.95 0.97 0.97 rs228696 . . . . . . . . . . . . . . 1 T 0.0 B 0.001 B 0.738 N 1.000 P 0.63 N 2.89 T -0.965 T 0.000 T 0.098 0.329 5.782 2.16 0.554 0.873 6.979 hom 4646.80 138 1 7887493 . T C 4646.80 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4496;MQ=59.23;MQ0=0;QD=33.67;VQSLOD=7.9222;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,137:138:99:4646,379,0
1 7890064 7890064 A G exonic;splicing PER3;PER3 NM_001289863:exon20:c.2981-2A>G,NM_001289861:exon20:c.3002-2A>G synonymous SNV PER3:NM_001289862:exon19:c.A3057G:p.T1019T,PER3:NM_001289864:exon19:c.A2097G:p.T699T,PER3:NM_016831:exon19:c.A3030G:p.T1010T 0.24 0.24 0.21 0.15 0.29 0.33 0.1347 0.1460 0.0618 0.0671 0.1506 0.1544 0.1582 0.1539 . . . . 0.32 rs12023156 . . . . . . . . . . . . . . . . . . . . . . 1.000 P . . . . . . . . . -0.462 1.865 0.119 0.235 0.651 . het 2819.82 173 1 7890064 . A G 2819.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.237;DP=173;Dels=0.00;FS=2.761;HRun=2;HaplotypeScore=9.0990;MQ=59.21;MQ0=1;MQRankSum=-0.569;QD=16.30;ReadPosRankSum=0.270;VQSLOD=3.3368;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,102:173:99:2850,0,1825
1 7890117 7890117 T C exonic PER3 nonsynonymous SNV PER3:NM_001289862:exon19:c.T3110C:p.M1037T,PER3:NM_001289864:exon19:c.T2150C:p.M717T,PER3:NM_016831:exon19:c.T3083C:p.M1028T,PER3:NM_001289861:exon20:c.T3053C:p.M1018T,PER3:NM_001289863:exon20:c.T3032C:p.M1011T 0.19 0.097 0.29 0.051 0.29 0.26 0.2531 0.1146 0.2469 0.0538 0.3247 0.2903 0.2852 0.2677 0.24 0.13 0.3 0.15 0.29 rs2640909 . . . . . . . . . . . . . . 0.6 T 0.017 B 0.013 B 0.039 N 1.000 P 0.145 N 2.58 T -0.939 T 0.000 T 0.059 -1.871 0.008 -1.54 -0.216 0.000 3.401 het 4023.71 246 1 7890117 . T C 4023.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.525;DP=246;Dels=0.00;FS=5.194;HRun=0;HaplotypeScore=9.9578;MQ=59.36;MQ0=0;MQRankSum=-1.743;QD=16.36;ReadPosRankSum=-0.501;VQSLOD=2.2427;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,134:246:99:3409,0,2955
1 7897133 7897133 A G exonic PER3 nonsynonymous SNV PER3:NM_001289862:exon21:c.A3473G:p.H1158R,PER3:NM_001289864:exon21:c.A2513G:p.H838R,PER3:NM_016831:exon21:c.A3446G:p.H1149R,PER3:NM_001289861:exon22:c.A3416G:p.H1139R,PER3:NM_001289863:exon22:c.A3395G:p.H1132R 0.12 0.071 0.21 0.0079 0.2 0.16 0.1659 0.0907 0.1876 0.0073 0.2483 0.1839 0.1674 0.1757 0.16 0.096 0.19 0.098 0.2 rs10462021 . . . . . . . . . . . . . . 0.44 T 0.002 B 0.003 B 0.119 N 1.000 P 0.55 N 2.57 T -0.990 T 0.000 T 0.025 1.104 9.503 -8.51 -2.475 0.007 1.389 het 1030.65 79 1 7897133 . A G 1030.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.684;DP=79;Dels=0.00;FS=1.874;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.456;QD=13.05;ReadPosRankSum=-0.260;VQSLOD=6.6268;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,41:79:99:1061,0,983
1 7913430 7913430 G A exonic UTS2 nonsynonymous SNV UTS2:NM_021995:exon1:c.C62T:p.T21M 0.48 0.43 0.41 0.35 0.57 0.63 0.5229 0.4688 0.2982 0.3526 0.4511 0.5730 0.5650 0.6278 0.54 0.47 0.57 0.46 0.51 rs228648 . . . . . . . . . . . . . . 0.12 T 0.216 B 0.023 B . . 1.000 P . . 1.34 T -0.943 T 0.000 T 0.053 0.439 6.386 -3.06 -0.941 -0.446 10.906 het 1040.38 89 1 7913430 . G A 1040.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.387;DP=89;Dels=0.00;FS=1.870;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=2.047;QD=11.69;ReadPosRankSum=1.426;VQSLOD=5.6363;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,39:89:99:1070,0,1283
1 8390495 8390495 A G exonic SLC45A1 synonymous SNV SLC45A1:NM_001080397:exon5:c.A1044G:p.P348P 0.78 0.74 0.78 0.85 0.74 0.79 0.7693 0.7588 0.7824 0.8524 0.8560 0.7457 0.7664 0.7799 0.74 0.75 0.74 0.71 0.5 rs1058619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 223.13 31 1 8390495 . A G 223.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=59.25;MQ0=0;MQRankSum=0.094;QD=7.20;ReadPosRankSum=-0.188;VQSLOD=5.1249;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,11:31:99:253,0,440
1 8390888 8390888 G A exonic SLC45A1 synonymous SNV SLC45A1:NM_001080397:exon5:c.G1437A:p.P479P 0.34 0.54 0.29 0.17 0.33 0.3 0.3144 0.5137 0.2599 0.1689 0.2096 0.3238 0.3114 0.3086 0.39 0.51 0.32 0.36 0.43 rs2289731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 605.09 88 1 8390888 . G A 605.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.843;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9937;MQ=58.62;MQ0=0;MQRankSum=0.162;QD=6.88;ReadPosRankSum=-0.478;VQSLOD=5.1706;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,27:88:99:635,0,1694
1 8418644 8418644 C A exonic RERE synonymous SNV RERE:NM_001042682:exon10:c.G2289T:p.R763R,RERE:NM_001042681:exon20:c.G3951T:p.R1317R,RERE:NM_012102:exon21:c.G3951T:p.R1317R 0.8 0.86 0.78 0.9 0.67 0.75 0.7221 0.8407 0.7936 0.8888 0.5744 0.6787 0.7215 0.7390 0.73 0.84 0.68 0.79 0.48 rs11121172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 213.28 19 1 8418644 . C A 213.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.184;DP=19;Dels=0.00;FS=2.077;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.204;QD=11.23;ReadPosRankSum=0.449;VQSLOD=6.2385;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:243,0,274
1 8418650 8418650 T C exonic RERE synonymous SNV RERE:NM_001042682:exon10:c.A2283G:p.R761R,RERE:NM_001042681:exon20:c.A3945G:p.R1315R,RERE:NM_012102:exon21:c.A3945G:p.R1315R 0.8 0.87 0.78 0.9 0.67 0.75 0.7225 0.8439 0.7936 0.8889 0.5734 0.6795 0.7195 0.7379 0.73 0.84 0.68 0.77 0.51 rs1058766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 252.58 21 1 8418650 . T C 252.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.532;DP=21;Dels=0.00;FS=4.269;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.608;QD=12.03;ReadPosRankSum=0.988;VQSLOD=5.3832;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,10:21:99:283,0,351
1 9009406 9009406 C T exonic CA6 nonsynonymous SNV CA6:NM_001215:exon2:c.C164T:p.T55M,CA6:NM_001270500:exon2:c.C164T:p.T55M 0.27 0.081 0.38 0.24 0.42 0.33 0.3544 0.1368 0.3180 0.2471 0.4672 0.4141 0.3708 0.2854 0.32 0.14 0.41 0.21 0.39 rs2274327 . . . . . . . . . . . . . . 0.05 D 0.987 D 0.715 P 0.734 N 1.000 P 0.93 L -0.32 T -1.028 T 0.000 T 0.365 3.056 16.20 -7.73 -1.540 -0.262 12.547 het 684.62 62 1 9009406 . C T 684.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.852;DP=62;Dels=0.00;FS=5.329;HRun=0;HaplotypeScore=0.0000;MQ=58.64;MQ0=0;MQRankSum=1.150;QD=11.04;ReadPosRankSum=0.951;VQSLOD=4.9975;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,27:62:99:715,0,994
1 9009444 9009444 A C exonic CA6 nonsynonymous SNV CA6:NM_001215:exon2:c.A202C:p.M68L,CA6:NM_001270500:exon2:c.A202C:p.M68L 0.5 0.56 0.47 0.41 0.54 0.5 0.4908 0.5392 0.3747 0.4284 0.5486 0.5145 0.4922 0.4548 0.53 0.55 0.52 0.47 0.57 rs2274328 . . . . . . . . . . . . . . . . 0.0 B 0.0 B 0.000 N 0.000 P -2.015 N 0.07 T -0.928 T 0.000 T 0.093 -0.489 1.753 2.4 0.058 0.497 4.599 het 879.15 73 1 9009444 . A C 879.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.741;DP=73;Dels=0.00;FS=0.951;HRun=0;HaplotypeScore=4.3123;MQ=59.37;MQ0=0;MQRankSum=0.116;QD=12.04;ReadPosRankSum=-0.249;VQSLOD=6.1297;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:40,33:73:99:909,0,1101
1 9079365 9079365 G A exonic SLC2A7 synonymous SNV SLC2A7:NM_207420:exon4:c.C339T:p.I113I 0.085 0.1 0.06 0.19 0.004 0.056 0.0355 0.0910 0.0622 0.1824 0.0208 0.0039 0.0334 0.0381 0.032 0.085 0.0044 0.087 . rs10864379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 802.58 59 1 9079365 . G A 802.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.189;DP=59;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9987;MQ=59.22;MQ0=0;MQRankSum=-1.253;QD=13.60;ReadPosRankSum=-0.375;VQSLOD=6.1784;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,29:59:99:833,0,765
1 9304979 9304986 CCCAGGCA - exonic H6PD nonframeshift deletion H6PD:NM_001282587:exon2:c.24_26del:p.8_9del 0.11 0.011 0.23 0.072 0.15 0.15 0.1526 0.0293 0.3293 0.0847 0.1725 0.1478 0.1498 0.1555 0.098 0.029 0.13 . . rs139855605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1074.52 95 1 9304978 . CCCCAGGCA C 1074.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.133;DP=95;FS=0.000;HRun=0;HaplotypeScore=663.9329;MQ=53.72;MQ0=0;MQRankSum=-5.411;QD=11.19;ReadPosRankSum=-0.750;set=variant2 GT:AD:DP:GQ:PL 0/1:79,17:95:99:1114,0,8158
1 9324571 9324571 T C exonic H6PD synonymous SNV H6PD:NM_001282587:exon5:c.T2052C:p.Y684Y,H6PD:NM_004285:exon5:c.T2019C:p.Y673Y 0.4 0.5 0.42 0.17 0.41 0.5 0.4157 0.4853 0.5444 0.1495 0.3444 0.4022 0.4022 0.5032 0.43 0.49 0.4 0.43 0.36 rs9434742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1345.74 109 1 9324571 . T C 1345.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.578;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8815;MQ=58.89;MQ0=0;MQRankSum=1.598;QD=12.35;ReadPosRankSum=1.154;VQSLOD=5.8438;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,50:109:99:1376,0,1636
1 9324670 9324670 A G exonic H6PD synonymous SNV H6PD:NM_001282587:exon5:c.A2151G:p.S717S,H6PD:NM_004285:exon5:c.A2118G:p.S706S 0.4 0.51 0.43 0.15 0.4 0.49 0.4093 0.4942 0.5433 0.1347 0.3456 0.3926 0.4 0.4979 0.42 0.49 0.39 0.46 0.28 rs9434743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1194.58 108 1 9324670 . A G 1194.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.341;DP=108;Dels=0.00;FS=18.546;HRun=0;HaplotypeScore=2.2566;MQ=58.75;MQ0=0;MQRankSum=0.526;QD=11.06;ReadPosRankSum=-0.162;VQSLOD=2.7642;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,47:108:99:1225,0,1618
1 9416346 9416346 C T exonic SPSB1 synonymous SNV SPSB1:NM_025106:exon2:c.C396T:p.L132L 0.2 0.065 0.18 0.28 0.32 0.18 0.2535 0.0921 0.1220 0.2989 0.3248 0.3016 0.2746 0.1993 0.23 0.097 0.3 0.23 0.36 rs3795309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1174.32 81 1 9416346 . C T 1174.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.400;DP=81;Dels=0.00;FS=0.859;HRun=1;HaplotypeScore=1.8295;MQ=59.14;MQ0=0;MQRankSum=0.506;QD=14.50;ReadPosRankSum=1.432;VQSLOD=5.6617;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,39:81:99:1204,0,1134
1 9811541 9811541 A G exonic CLSTN1 synonymous SNV CLSTN1:NM_014944:exon4:c.T609C:p.V203V,CLSTN1:NM_001009566:exon5:c.T639C:p.V213V,CLSTN1:NM_001302883:exon5:c.T639C:p.V213V 0.31 0.61 0.22 0.19 0.077 0.33 0.1771 0.5353 0.2567 0.1770 0.0992 0.0854 0.1645 0.2984 0.23 0.52 0.084 0.45 0.057 rs11674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1488.48 101 1 9811541 . A G 1488.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.651;DP=101;Dels=0.00;FS=2.986;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=1.324;QD=14.74;ReadPosRankSum=-0.709;VQSLOD=6.1443;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,60:101:99:1518,0,1142
1 10421878 10421878 A G exonic KIF1B synonymous SNV KIF1B:NM_015074:exon38:c.A4161G:p.P1387P 0.08 0.0045 0.092 0.013 0.12 0.2 0.1128 0.0222 0.0561 0.0052 0.1102 0.1292 0.1093 0.2003 0.09 0.021 0.13 0.043 0.074 rs12125492 . . probable-non-pathogenic not_specified single RCV000117407.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 2217.43 209 1 10421878 . A G 2217.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.757;DP=209;Dels=0.00;FS=0.528;HRun=1;HaplotypeScore=1.7046;MQ=59.60;MQ0=0;MQRankSum=-0.302;QD=10.61;ReadPosRankSum=-0.067;VQSLOD=6.7002;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:120,88:209:99:2247,0,3345
1 10511544 10511544 C T exonic APITD1-CORT,CORT synonymous SNV CORT:NM_001302:exon2:c.C210T:p.A70A,APITD1-CORT:NM_001243768:exon4:c.C324T:p.A108A,APITD1-CORT:NM_198544:exon5:c.C387T:p.A129A 0.29 0.021 0.31 0.49 0.39 0.32 0.3679 0.0723 0.3283 0.4906 0.3945 0.4097 0.4241 0.3250 0.29 0.08 0.4 0.2 0.27 rs628462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 324.70 25 1 10511544 . C T 324.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.548;DP=25;Dels=0.00;FS=6.701;HRun=0;HaplotypeScore=0.9916;MQ=60.00;MQ0=0;MQRankSum=-0.837;QD=12.99;ReadPosRankSum=-0.144;VQSLOD=4.8090;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:355,0,355
1 10511589 10511589 T C exonic APITD1-CORT,CORT synonymous SNV CORT:NM_001302:exon2:c.T255C:p.S85S,APITD1-CORT:NM_001243768:exon4:c.T369C:p.S123S,APITD1-CORT:NM_198544:exon5:c.T432C:p.S144S 0.87 0.88 0.82 0.86 0.93 0.83 0.8965 0.8969 0.7740 0.8237 0.8631 0.9404 0.9087 0.8556 0.93 0.91 0.94 0.83 0.81 rs666103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 599.59 22 1 10511589 . T C 599.59 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=27.25;VQSLOD=8.4574;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:54.13:633,54,0
1 10596341 10596341 C T exonic PEX14 synonymous SNV PEX14:NM_004565:exon3:c.C156T:p.F52F 0.23 0.066 0.43 0.2 0.31 0.25 0.2843 0.1040 0.4313 0.2069 0.3381 0.3052 0.2577 0.2303 0.25 0.11 0.32 0.17 0.39 rs12375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 862.89 65 1 10596341 . C T 862.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.121;DP=65;Dels=0.00;FS=9.134;HRun=2;HaplotypeScore=1.9311;MQ=59.14;MQ0=0;MQRankSum=0.427;QD=13.28;ReadPosRankSum=-1.320;VQSLOD=4.7518;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,34:65:99:893,0,811

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