##fileformat=VCFv4.1 ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##annotator=MARS ##UnifiedGenotyper="analysis_type=UnifiedGenotyper input_file=[D:\Illumina\MiSeqAnalysis\160928_M02153_0036_000000000-ATT3W\Data\Intensities\BaseCalls\Alignment\HG003_S3.bam] read_buffer_size=null phone_home=NO_ET gatk_key=null read_filter=[] intervals=[D:\Illumina\MiSeqAnalysis\160928_M02153_0036_000000000-ATT3W\Data\Intensities\BaseCalls\Alignment\intervals_M1.picard] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL reference_sequence=C:\Illumina\MiSeq Reporter\Genomes\Homo_sapiens\UCSC\hg19\Sequence\WholeGenomeFASTA\genome.fa nonDeterministicRandomSeed=false downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=5000 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false BQSR=null quantize_quals=-1 defaultBaseQualities=-1 validation_strictness=SILENT unsafe=null num_threads=8 num_cpu_threads=null num_io_threads=null num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false logging_level=INFO log_to_file=null help=false genotype_likelihoods_model=BOTH p_nonref_model=EXACT heterozygosity=0.0010 pcr_error_rate=1.0E-4 genotyping_mode=DISCOVERY output_mode=EMIT_VARIANTS_ONLY standard_min_confidence_threshold_for_calling=10.0 standard_min_confidence_threshold_for_emitting=10.0 noSLOD=false annotateNDA=false alleles=(RodBinding name= source=UNBOUND) min_base_quality_score=17 max_deletion_fraction=0.05 max_alternate_alleles=3 min_indel_count_for_genotyping=5 min_indel_fraction_per_sample=0.25 indel_heterozygosity=1.25E-4 indelGapContinuationPenalty=10 indelGapOpenPenalty=45 indelHaplotypeSize=80 noBandedIndel=false indelDebug=false ignoreSNPAlleles=false includeGVCFData=false dbsnp=(RodBinding name= source=UNBOUND) comp=[] out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub debug_file=null metrics_file=null annotation=[] excludeAnnotation=[] filter_mismatching_base_and_quals=false" ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##reference=file://C:\Illumina\MiSeq Reporter\Genomes\Homo_sapiens\UCSC\hg19\Sequence\WholeGenomeFASTA\genome.fa ##source=GATK 1.6 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT HG003 chr1 2340200 rs2494598 T C 1249.44 PASS AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=49.07;MQ0=0;QD=21.54;SB=-1046.19;TI=NM_153818,NM_002617;GI=PEX10,PEX10;FC=Synonymous_T97T,Synonymous_T97T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:58:87.29:1282,87,0:1.000:87 chr1 5924512 . C A 1059.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.246;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0704;MQ=51.44;MQ0=0;MQRankSum=-0.396;QD=12.47;ReadPosRankSum=0.797;SB=-722.35;TI=NM_015102;GI=NPHP4;FC=Missense_R1294S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,50:85:99:1090,0,658:0.595:99 chr1 5926507 rs555164 T C 1711.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.144;DP=157;Dels=0.00;FS=2.845;HRun=0;HaplotypeScore=5.4638;MQ=48.29;MQ0=0;MQRankSum=-1.211;QD=10.90;ReadPosRankSum=0.589;SB=-1100.39;TI=NM_015102;GI=NPHP4;FC=Synonymous_E1190E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,82:157:99:1742,0,1513:0.522:99 chr1 5937189 . G A 483.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.186;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=44.79;MQ0=0;MQRankSum=-0.142;QD=7.92;ReadPosRankSum=0.768;SB=-403.91;TI=NM_015102;GI=NPHP4;FC=Synonymous_A927A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,26:61:99:513,0,701:0.433:99 chr1 6526857 . TA T 195.98 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.942;DP=58;FS=2.277;HRun=15;HaplotypeScore=107.4353;MQ=38.96;MQ0=0;MQRankSum=-0.680;QD=3.38;ReadPosRankSum=-2.696;SB=-99.24;TI=NM_001042665,NM_001042664,NM_020631,NM_001042663,NM_198681;GI=PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,13:58:99:235,0,600:0.277:99 chr1 6579607 rs1556035 C T 1433.30 PASS AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8100;MQ=50.40;MQ0=0;QD=28.10;SB=-838.07;TI=NM_198681;GI=PLEKHG5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,51:51:99:1466,105,0:1.000:99 chr1 6579843 rs1010584 C T 297.06 LowGQ;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.434;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.46;MQ0=0;MQRankSum=-0.651;QD=18.57;ReadPosRankSum=1.085;SB=-258.36;TI=NM_198681;GI=PLEKHG5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,15:16:12.92:327,0,13:0.938:12 chr1 12009956 rs7551175 G A 2059.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.721;DP=215;Dels=0.00;FS=1.695;HRun=0;HaplotypeScore=20.3357;MQ=46.38;MQ0=0;MQRankSum=-0.495;QD=9.58;ReadPosRankSum=-0.640;SB=-1612.62;TI=NM_000302;GI=PLOD1;FC=Missense_A99T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:112,103:215:99:2089,0,2325:0.479:99 chr1 12010469 rs2273285 G T 742.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.554;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7515;MQ=47.44;MQ0=0;MQRankSum=-1.772;QD=8.44;ReadPosRankSum=-1.495;SB=-620.45;TI=NM_000302;GI=PLOD1;FC=Missense_A120S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,39:88:99:773,0,1043:0.443:99 chr1 12026355 rs2230898 A C 572.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.191;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5463;MQ=49.54;MQ0=0;MQRankSum=1.249;QD=10.40;ReadPosRankSum=-0.833;SB=-445.61;TI=NM_000302;GI=PLOD1;FC=Synonymous_A544A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,29:55:99:602,0,509:0.537:99 chr1 21889635 rs1780316 T C 1087.18 PASS AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8713;MQ=42.69;MQ0=0;QD=22.65;SB=-780.75;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Synonymous_S110S,Synonymous_S33S,Synonymous_S55S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,47:48:78.26:1120,78,0:1.000:78 chr1 21894735 rs3200254 T C 755.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.852;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8874;MQ=45.22;MQ0=0;MQRankSum=0.446;QD=8.88;ReadPosRankSum=-0.676;SB=-593.65;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Missense_Y263H,Missense_Y186H,Missense_Y208H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,38:85:99:785,0,946:0.447:99 chr1 21900171 rs3200255 A G 349.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.762;DP=46;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.9952;MQ=43.62;MQ0=0;MQRankSum=-2.075;QD=7.60;ReadPosRankSum=0.312;SB=-270.89;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Synonymous_P292P,Synonymous_P215P,Synonymous_P237P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,19:46:99:380,0,547:0.413:99 chr1 21904206 rs1697405 C T 588.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.091;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9981;MQ=48.86;MQ0=0;MQRankSum=0.364;QD=12.79;ReadPosRankSum=0.819;SB=-485.93;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,29:46:99:618,0,383:0.630:99 chr1 21904267 rs1697406 A G 645.26 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.38;MQ0=0;QD=24.82;SB=-431.86;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,26:26:48.16:678,48,0:1.000:48 chr1 21904374 rs1772719 A C 590.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.356;DP=78;Dels=0.00;FS=0.855;HRun=1;HaplotypeScore=2.6492;MQ=46.82;MQ0=0;MQRankSum=1.011;QD=7.57;ReadPosRankSum=0.533;SB=-478.15;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,32:78:99:621,0,1000:0.410:99 chr1 22149183 rs1049644 G C 182.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.560;DP=22;Dels=0.00;FS=1.768;HRun=0;HaplotypeScore=4.4803;MQ=47.01;MQ0=0;MQRankSum=2.275;QD=8.31;ReadPosRankSum=1.022;SB=-162.20;TI=NM_001013693,NM_005529;GI=LDLRAD2,HSPG2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,10:22:99:213,0,278:0.455:99 chr1 22149935 rs897467 T C 98.12 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=42.61;MQ0=0;QD=19.62;SB=-63.69;TI=NM_001013693,NM_005529;GI=LDLRAD2,HSPG2;FC=Silent,Synonymous_S4350S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:5:9.03:130,9,0:1.000:9 chr1 22150120 rs3736360 C T 744.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.735;DP=68;Dels=0.00;FS=1.999;HRun=1;HaplotypeScore=0.0000;MQ=47.37;MQ0=0;MQRankSum=0.266;QD=10.95;ReadPosRankSum=-0.438;SB=-652.06;TI=NM_001013693,NM_005529;GI=LDLRAD2,HSPG2;FC=Silent,Missense_S4331N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,38:68:99:774,0,629:0.559:99 chr1 22150160 rs3736358 G T 722.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.192;DP=72;Dels=0.00;FS=0.868;HRun=0;HaplotypeScore=1.7882;MQ=47.76;MQ0=0;MQRankSum=0.394;QD=10.03;ReadPosRankSum=-1.115;SB=-559.27;TI=NM_001013693,NM_005529;GI=LDLRAD2,HSPG2;FC=Silent,Synonymous_R4318R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,37:72:99:752,0,719:0.514:99 chr1 22154845 rs2228347 A G 736.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.901;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7874;MQ=44.59;MQ0=0;MQRankSum=-0.839;QD=8.98;ReadPosRankSum=1.230;SB=-543.15;TI=NM_005529;GI=HSPG2;FC=Synonymous_D4104D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,37:82:99:766,0,970:0.451:99 chr1 22159008 rs2229487 C A 369.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.911;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=44.87;MQ0=0;MQRankSum=-0.336;QD=8.21;ReadPosRankSum=0.081;SB=-290.06;TI=NM_005529;GI=HSPG2;FC=Synonymous_V3729V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,18:45:99:399,0,530:0.400:99 chr1 22161275 rs2229492 G A 743.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.078;DP=82;Dels=0.00;FS=0.846;HRun=1;HaplotypeScore=4.4156;MQ=47.83;MQ0=0;MQRankSum=-2.878;QD=9.07;ReadPosRankSum=1.753;SB=-585.68;TI=NM_005529;GI=HSPG2;FC=Synonymous_V3539V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,38:82:99:774,0,890:0.463:99 chr1 22165901 rs2291826 A G 797.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.711;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=47.51;MQ0=0;MQRankSum=-1.973;QD=9.49;ReadPosRankSum=-2.366;SB=-632.21;TI=NM_005529;GI=HSPG2;FC=Synonymous_A3284A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,42:84:99:827,0,877:0.500:99 chr1 22165987 rs2291827 G A 1002.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.174;DP=78;Dels=0.00;FS=4.500;HRun=0;HaplotypeScore=5.5352;MQ=45.86;MQ0=0;MQRankSum=-0.357;QD=12.86;ReadPosRankSum=0.643;SB=-713.32;TI=NM_005529;GI=HSPG2;FC=Missense_H3256Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,47:78:99:1033,0,648:0.603:99 chr1 22191454 rs897471 G A 1121.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.256;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4876;MQ=45.91;MQ0=0;MQRankSum=-1.708;QD=11.33;ReadPosRankSum=-1.484;SB=-819.75;TI=NM_005529;GI=HSPG2;FC=Missense_A1503V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,53:99:99:1152,0,956:0.535:99 chr1 22199245 rs2229482 C T 2183.97 PASS AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.16;MQ0=0;QD=24.00;SB=-1776.46;TI=NM_005529;GI=HSPG2;FC=Synonymous_V1299V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,91:91:99:2217,154,0:1.000:99 chr1 22206649 rs989994 T C 1143.43 PASS AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.90;MQ0=0;QD=24.33;SB=-890.38;TI=NM_005529;GI=HSPG2;FC=Missense_N765S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,47:47:81.27:1176,81,0:1.000:81 chr1 22206942 rs1874793 G A 1980.70 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.689;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=42.39;MQ0=0;MQRankSum=-0.064;QD=24.45;ReadPosRankSum=-0.192;SB=-1473.04;TI=NM_005529;GI=HSPG2;FC=Synonymous_A703A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,80:81:99:2014,141,0:0.988:99 chr1 22207235 rs1874792 T C 1912.84 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.169;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7249;MQ=50.05;MQ0=0;MQRankSum=1.690;QD=23.33;ReadPosRankSum=1.605;SB=-1533.61;TI=NM_005529;GI=HSPG2;FC=Missense_M638V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,81:82:99:1946,108,0:0.988:99 chr1 22216574 rs2254358 C A 2249.31 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.293;DP=101;Dels=0.00;FS=6.247;HRun=0;HaplotypeScore=4.4930;MQ=45.16;MQ0=0;MQRankSum=-0.135;QD=22.27;ReadPosRankSum=0.899;SB=-1736.44;TI=NM_005529;GI=HSPG2;FC=Synonymous_G158G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,98:101:91.55:2282,92,0:0.980:91 chr1 22216604 rs2254357 C G 2734.33 PASS AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2186;MQ=45.36;MQ0=0;QD=22.60;SB=-2165.77;TI=NM_005529;GI=HSPG2;FC=Synonymous_L148L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,121:121:99:2767,193,0:1.000:99 chr1 22217108 rs2501260 G A 2930.95 PASS AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5489;MQ=47.98;MQ0=0;QD=24.42;SB=-2133.78;TI=NM_005529;GI=HSPG2;FC=Synonymous_F108F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,120:120:99:2964,208,0:1.000:99 chr1 24128467 rs11714 C T 1463.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.771;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0978;MQ=49.19;MQ0=0;MQRankSum=-1.072;QD=8.56;ReadPosRankSum=1.647;SB=-1214.80;TI=NM_000191,NM_001166059;GI=HMGCL,HMGCL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,79:171:99:1494,0,1879:0.465:99 chr1 24134721 rs719400 T C 643.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.447;DP=55;Dels=0.00;FS=2.266;HRun=0;HaplotypeScore=0.8941;MQ=49.23;MQ0=0;MQRankSum=1.357;QD=11.71;ReadPosRankSum=0.582;SB=-391.58;TI=NM_000191,NM_001166059;GI=HMGCL,HMGCL;FC=Synonymous_L218L,Synonymous_L147L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,29:55:99:674,0,580:0.527:99 chr1 24180962 rs13551 T C 1172.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.399;DP=107;Dels=0.00;FS=0.733;HRun=1;HaplotypeScore=6.6677;MQ=47.45;MQ0=0;MQRankSum=-0.508;QD=10.95;ReadPosRankSum=-0.477;SB=-808.76;TI=NM_000147;GI=FUCA1;FC=Missense_Q286R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,54:107:99:1202,0,1134:0.505:99 chr1 24194748 rs2070956 G C 1115.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.758;DP=93;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8499;MQ=49.91;MQ0=0;MQRankSum=-0.043;QD=11.99;ReadPosRankSum=2.146;SB=-892.31;TI=NM_000147;GI=FUCA1;FC=Missense_P10R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,53:93:99:1145,0,897:0.570:99 chr1 24194773 rs2070955 G A 1157.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.494;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7873;MQ=49.55;MQ0=0;MQRankSum=-0.008;QD=12.32;ReadPosRankSum=0.031;SB=-943.15;TI=NM_000147;GI=FUCA1;FC=Missense_R2W;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,55:94:99:1188,0,855:0.585:99 chr1 24194788 rs2070954 A G 1150.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.246;DP=98;Dels=0.00;FS=0.776;HRun=1;HaplotypeScore=2.8930;MQ=49.10;MQ0=0;MQRankSum=0.239;QD=11.74;ReadPosRankSum=0.396;SB=-910.95;TI=NM_000147;GI=FUCA1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,54:98:99:1181,0,877:0.551:99 chr1 26131654 rs7349185 G A 533.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.290;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9683;MQ=46.35;MQ0=0;MQRankSum=-2.383;QD=8.60;ReadPosRankSum=-2.482;SB=-425.39;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Missense_C142Y,Missense_C108Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,28:62:99:563,0,698:0.452:99 chr1 26138262 rs760597 T C 1312.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.644;DP=153;Dels=0.00;FS=0.608;HRun=2;HaplotypeScore=14.2562;MQ=46.29;MQ0=0;MQRankSum=-0.138;QD=8.58;ReadPosRankSum=0.252;SB=-1041.02;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Synonymous_P391P,Synonymous_P357P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:85,68:153:99:1342,0,1762:0.444:99 chr1 26140573 rs2294228 C A 681.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.820;DP=84;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.0363;MQ=46.35;MQ0=0;MQRankSum=-1.045;QD=8.11;ReadPosRankSum=1.730;SB=-582.75;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Missense_N502K,Missense_N468K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,37:84:99:711,0,974:0.440:99 chr1 26143704 rs3033477 A ATTTTG 2760.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.304;DP=117;FS=1.547;HRun=0;HaplotypeScore=67.1074;MQ=51.34;MQ0=1;MQRankSum=4.013;QD=23.60;ReadPosRankSum=2.058;SB=-1207.63;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:74,42:116:99:2800,0,4642:0.362:99 chr1 26143821 rs1139710;rs3203750 T C 55.99 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.505;DP=15;Dels=0.00;FS=2.963;HRun=2;HaplotypeScore=0.0000;MQ=57.47;MQ0=0;MQRankSum=0.794;QD=3.73;ReadPosRankSum=0.650;SB=-0.01;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,3:15:85.98:86,0,306:0.200:55 chr1 43200526 rs912075 T C 54.17 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=18.06;SB=-40.65;TI=NM_001123395,NM_148960,NM_001185117;GI=CLDN19,CLDN19,CLDN19;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:6.02:85,6,0:1.000:6 chr1 43201030 . C A 11.01 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=11.01;SB=-0.01;TI=NM_001123395,NM_148960,NM_001185117;GI=CLDN19,CLDN19,CLDN19;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chr1 43201216 rs12141833 A C 355.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.656;DP=30;Dels=0.00;FS=1.415;HRun=0;HaplotypeScore=0.0000;MQ=47.55;MQ0=0;MQRankSum=-0.826;QD=11.85;ReadPosRankSum=-2.350;SB=-309.18;TI=NM_001123395,NM_148960,NM_001185117;GI=CLDN19,CLDN19,CLDN19;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,18:30:99:385,0,253:0.600:99 chr1 43212111 rs6882 C T 455.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.354;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=48.04;MQ0=0;MQRankSum=0.278;QD=10.84;ReadPosRankSum=1.112;SB=-323.87;TI=NM_001146289,NM_022356;GI=LEPRE1,LEPRE1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,23:42:99:485,0,400:0.548:99 chr1 43212431 rs4660662 A G 1223.90 PASS AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=0.0000;MQ=46.98;MQ0=0;QD=22.25;SB=-1021.34;TI=NM_001146289,NM_022356;GI=LEPRE1,LEPRE1;FC=Silent,Synonymous_G716G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,55:55:87.28:1257,87,0:1.000:87 chr1 44396215 rs1859726 T C 1779.92 PASS AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1474;MQ=50.08;MQ0=0;QD=23.73;SB=-1190.39;TI=NM_174967,NM_174968,NM_174965,NM_174969,NM_174963,NM_174964,NM_174970,NM_174971,NM_174966,NM_006279;GI=ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,74:75:99:1813,129,0:1.000:99 chr1 44396790 rs2485990 G A 1166.85 PASS AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.34;MQ0=0;QD=22.44;SB=-1019.82;TI=NM_174967,NM_174968,NM_174965,NM_174969,NM_174963,NM_174964,NM_174970,NM_174971,NM_174966,NM_006279;GI=ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,52:52:81.27:1200,81,0:1.000:81 chr1 45975088 . G GT 98.54 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.363;DP=64;FS=5.451;HRun=16;HaplotypeScore=187.5363;MQ=48.01;MQ0=0;MQRankSum=0.127;QD=1.54;ReadPosRankSum=-0.701;SB=-60.82;TI=NM_015506;GI=MMACHC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,11:64:99:138,0,560:0.229:98 chr1 45975748 . CA C 35.94 R8;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.545;DP=14;FS=0.000;HRun=16;HaplotypeScore=31.0630;MQ=43.94;MQ0=0;MQRankSum=-0.817;QD=2.57;ReadPosRankSum=-1.381;SB=-27.83;TI=NM_015506;GI=MMACHC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,5:14:74.97:75,0,122:0.385:35 chr1 46655158 rs6659553 T C 2000.41 PASS AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=50.25;MQ0=0;QD=23.81;SB=-1580.67;TI=NM_017739,NR_024332;GI=POMGNT1,POMGNT1;FC=Missense_M623V,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,84:84:99:2033,141,0:1.000:99 chr1 46660295 rs2292487 T C 1065.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.323;DP=124;Dels=0.00;FS=0.669;HRun=0;HaplotypeScore=6.3539;MQ=46.39;MQ0=0;MQRankSum=0.404;QD=8.60;ReadPosRankSum=-0.066;SB=-853.97;TI=NM_017739,NR_024332;GI=POMGNT1,POMGNT1;FC=Synonymous_K227K,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,53:124:99:1096,0,1492:0.427:99 chr1 53676448 rs1799821 G A 395.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.534;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8455;MQ=44.18;MQ0=0;MQRankSum=-0.649;QD=5.82;ReadPosRankSum=-1.590;SB=-324.14;TI=NM_000098;GI=CPT2;FC=Missense_V368I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,25:68:99:426,0,886:0.368:99 chr1 53679096 . T C 92.28 LowGQ;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.43;MQ0=0;MQRankSum=0.742;QD=13.18;ReadPosRankSum=-0.742;SB=-111.31;TI=NM_000098;GI=CPT2;FC=Synonymous_F602F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,6:7:28.61:122,0,29:0.857:28 chr1 53679229 rs1799822 A G 1421.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.532;DP=145;Dels=0.00;FS=0.619;HRun=0;HaplotypeScore=4.7823;MQ=48.52;MQ0=0;MQRankSum=-0.061;QD=9.81;ReadPosRankSum=1.506;SB=-1066.04;TI=NM_000098;GI=CPT2;FC=Missense_M647V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,69:145:99:1452,0,1595:0.476:99 chr1 55315351 rs657688 T C 2616.16 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.927;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=47.05;MQ0=0;MQRankSum=-0.468;QD=23.15;ReadPosRankSum=-0.621;SB=-2113.09;TI=NM_014762;GI=DHCR24;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,111:113:99:2649,145,0:0.982:99 chr1 55316082 rs654561 A C 1576.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.994;DP=151;Dels=0.00;FS=0.603;HRun=0;HaplotypeScore=7.1253;MQ=46.07;MQ0=0;MQRankSum=-0.013;QD=10.44;ReadPosRankSum=0.277;SB=-1171.43;TI=NM_014762;GI=DHCR24;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,78:151:99:1607,0,1443:0.517:99 chr1 55319902 rs718265 A G 4937.85 PASS AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1474;MQ=49.74;MQ0=0;QD=23.40;SB=-3921.83;TI=NM_014762;GI=DHCR24;FC=Synonymous_I342I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,211:211:99:4938,337,0:1.000:99 chr1 63836513 rs34542411 C G 4586.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.905;DP=406;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.3299;MQ=54.95;MQ0=0;MQRankSum=3.136;QD=11.30;ReadPosRankSum=1.085;SB=-2892.29;TI=NM_013339;GI=ALG6;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:197,209:406:99:4587,0,4193:0.515:99 chr1 63881552 rs4630153 C T 8741.14 PASS AC=2;AF=1.00;AN=2;DP=311;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=10.8244;MQ=54.74;MQ0=0;QD=28.11;SB=-5620.90;TI=NM_013339;GI=ALG6;FC=Missense_S304F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,310:311:99:8741,623,0:1.000:99 chr1 63903452 rs3009572 T C 4317.68 PASS AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5658;MQ=53.72;MQ0=0;QD=31.06;SB=-1344.98;TI=NM_013339;GI=ALG6;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,138:139:99:4318,319,0:1.000:99 chr1 63903478 rs3063361 CATTAT C 2070.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.136;DP=85;FS=5.434;HRun=0;HaplotypeScore=344.0837;MQ=54.01;MQ0=0;MQRankSum=-0.146;QD=24.36;ReadPosRankSum=-0.396;SB=-438.49;TI=NM_013339;GI=ALG6;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,35:85:99:2109,0,2528:0.417:99 chr1 63903846 . A AT 2573.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.685;DP=175;FS=0.563;HRun=1;HaplotypeScore=119.9249;MQ=53.71;MQ0=0;MQRankSum=5.912;QD=14.70;ReadPosRankSum=1.313;SB=-1240.79;TI=NM_013339;GI=ALG6;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,74:175:99:2612,0,3629:0.428:99 chr1 67465969 . CT C 92.36 R8;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.445;DP=39;FS=8.640;HRun=18;HaplotypeScore=154.4132;MQ=48.45;MQ0=0;MQRankSum=-0.199;QD=2.37;ReadPosRankSum=-0.077;SB=-0.00;TI=NM_015139;GI=SLC35D1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,7:39:99:131,0,268:0.219:92 chr1 67520059 rs71849659 CCA C 2427.47 PASS AC=2;AF=1.00;AN=2;DP=49;FS=0.000;HRun=0;HaplotypeScore=71.0071;MQ=49.25;MQ0=0;QD=49.54;SB=-1209.28;TI=NM_015139;GI=SLC35D1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,48:49:99:2470,148,0:0.980:99 chr1 76190216 rs17848068 G A 2984.12 PASS AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.9371;MQ=46.78;MQ0=0;QD=24.46;SB=-1914.51;TI=NM_000016,NM_001127328;GI=ACADM,ACADM;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,121:122:99:3017,220,0:1.000:99 chr1 97543764 rs291592 C T 1190.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.253;DP=104;Dels=0.00;FS=2.547;HRun=0;HaplotypeScore=5.5628;MQ=47.93;MQ0=0;MQRankSum=-1.342;QD=11.45;ReadPosRankSum=-2.556;SB=-750.73;TI=NM_000110;GI=DPYD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,52:104:99:1220,0,979:0.505:99 chr1 97981395 rs1801159 T C 1388.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.440;DP=139;Dels=0.00;FS=1.355;HRun=0;HaplotypeScore=4.5658;MQ=53.09;MQ0=0;MQRankSum=0.356;QD=9.99;ReadPosRankSum=0.761;SB=-1120.77;TI=NM_000110;GI=DPYD;FC=Missense_I543V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,71:139:99:1418,0,1502:0.511:99 chr1 98185527 rs2151562 A G 2170.47 PASS AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8888;MQ=47.97;MQ0=0;QD=24.66;SB=-1582.45;TI=NM_000110,NM_001160301;GI=DPYD,DPYD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,88:88:99:2203,154,0:1.000:99 chr1 98186077 rs1333718 T C 3468.03 PASS AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2312;MQ=57.73;MQ0=0;QD=26.47;SB=-2399.96;TI=NM_000110,NM_001160301;GI=DPYD,DPYD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,130:131:99:3468,247,0:1.000:99 chr1 98348885 rs1801265 G A 8438.99 PASS AC=2;AF=1.00;AN=2;DP=342;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.5038;MQ=49.37;MQ0=0;QD=24.68;SB=-6384.98;TI=NM_000110,NM_001160301;GI=DPYD,DPYD;FC=Missense_R29C,Missense_R29C;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,341:342:99:8439,587,0:1.000:99 chr1 100318245 . T G 1949.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.187;DP=183;Dels=0.00;FS=0.548;HRun=0;HaplotypeScore=6.2312;MQ=51.72;MQ0=0;MQRankSum=-0.722;QD=10.65;ReadPosRankSum=-0.889;SB=-1356.70;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646;GI=AGL,AGL,AGL,AGL,AGL;FC=Silent,Silent,Silent,Silent,Missense_I7S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:93,90:183:99:1980,0,2043:0.492:99 chr1 100326966 rs41285736 C G 1289.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.659;DP=103;Dels=0.00;FS=0.739;HRun=0;HaplotypeScore=6.2586;MQ=56.80;MQ0=0;MQRankSum=1.930;QD=12.52;ReadPosRankSum=-0.156;SB=-778.63;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646,NM_000645;GI=AGL,AGL,AGL,AGL,AGL,AGL;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,56:103:99:1319,0,1159:0.544:99 chr1 100327026 rs2307129 C T 1399.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.297;DP=142;Dels=0.00;FS=1.362;HRun=0;HaplotypeScore=11.8949;MQ=54.19;MQ0=0;MQRankSum=1.709;QD=9.86;ReadPosRankSum=-1.171;SB=-1070.63;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646,NM_000645;GI=AGL,AGL,AGL,AGL,AGL,AGL;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,69:142:99:1430,0,1681:0.493:99 chr1 100327183 rs2230305 T C 1566.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.086;DP=140;Dels=0.00;FS=1.346;HRun=2;HaplotypeScore=14.7314;MQ=53.98;MQ0=0;MQRankSum=0.310;QD=11.19;ReadPosRankSum=0.204;SB=-1086.32;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646,NM_000645;GI=AGL,AGL,AGL,AGL,AGL,AGL;FC=Synonymous_N69N,Synonymous_N69N,Synonymous_N69N,Synonymous_N69N,Synonymous_N53N,Synonymous_N52N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,71:140:99:1596,0,1725:0.511:99 chr1 100336361 rs2230306 C T 6882.60 PASS AC=2;AF=1.00;AN=2;DP=279;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6819;MQ=53.87;MQ0=0;QD=24.67;SB=-5338.16;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646,NM_000645;GI=AGL,AGL,AGL,AGL,AGL,AGL;FC=Synonymous_L298L,Synonymous_L298L,Synonymous_L298L,Synonymous_L298L,Synonymous_L282L,Synonymous_L281L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,279:279:99:6883,482,0:1.000:99 chr1 100358103 rs3753494 C T 2403.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.114;DP=198;Dels=0.00;FS=0.529;HRun=0;HaplotypeScore=8.3627;MQ=50.35;MQ0=0;MQRankSum=3.293;QD=12.14;ReadPosRankSum=2.956;SB=-1440.50;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646,NM_000645;GI=AGL,AGL,AGL,AGL,AGL,AGL;FC=Missense_P1067S,Missense_P1067S,Missense_P1067S,Missense_P1067S,Missense_P1051S,Missense_P1050S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:97,100:198:99:2433,0,2422:0.508:99 chr1 100387939 rs3766600 C T 4210.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.715;DP=387;Dels=0.00;FS=0.775;HRun=1;HaplotypeScore=17.3519;MQ=55.40;MQ0=0;MQRankSum=-1.624;QD=10.88;ReadPosRankSum=0.410;SB=-3033.42;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646,NM_000645;GI=AGL,AGL,AGL,AGL,AGL,AGL;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:196,191:387:99:4211,0,4569:0.494:99 chr1 100653254 . G T 24.22 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.052;DP=47;Dels=0.00;FS=24.976;HRun=5;HaplotypeScore=43.2881;MQ=50.18;MQ0=0;MQRankSum=0.466;QD=0.52;ReadPosRankSum=-2.329;SB=-0.01;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,5:47:54.20:54,0,982:0.106:24 chr1 100653256 . ATT A 43.39 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.160;DP=47;FS=2.509;HRun=17;HaplotypeScore=215.6661;MQ=50.18;MQ0=0;MQRankSum=2.139;QD=0.92;ReadPosRankSum=-0.926;SB=-46.17;TI=NM_001918;GI=DBT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,5:47:80.84:81,0,783:0.143:43 chr1 100654907 . TAAA T,TAA 583.06 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-0.540;DP=33;FS=0.000;HaplotypeScore=168.9515;MQ=47.05;MQ0=0;MQRankSum=-1.372;QD=17.67;ReadPosRankSum=0.457;SB=-244.67;TI=NM_001918;GI=DBT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:8,8,0:33:99:661,222,264,341,0,270:0.500:99 chr1 100654911 . A T 142.62 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.344;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.2857;MQ=47.05;MQ0=0;MQRankSum=-0.141;QD=4.32;ReadPosRankSum=0.384;SB=-82.53;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,9:33:99:173,0,583:0.273:99 chr1 100655583 rs4281338 T A 902.95 PASS AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.70;MQ0=0;QD=31.14;SB=-321.18;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,29:29:69.22:936,69,0:1.000:69 chr1 100656265 rs11166412 C T 5165.98 PASS AC=2;AF=1.00;AN=2;DP=202;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=55.03;MQ0=0;QD=25.57;SB=-3315.22;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,202:202:99:5166,364,0:1.000:99 chr1 100656661 rs6701655 T C 3608.78 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.706;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=49.89;MQ0=0;MQRankSum=1.177;QD=27.55;ReadPosRankSum=-0.489;SB=-1824.12;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,130:131:99:3609,259,0:0.992:99 chr1 100658578 rs2784174 G A 805.93 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=49.61;MQ0=0;QD=25.19;SB=-472.28;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,32:32:60.20:839,60,0:1.000:60 chr1 100672060 rs12021720 T C 3466.17 PASS AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.9299;MQ=46.43;MQ0=0;QD=25.68;SB=-2276.35;TI=NM_001918;GI=DBT;FC=Missense_S384G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,135:135:99:3466,253,0:1.000:99 chr1 115576023 rs10776792 A G 3774.43 PASS AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7538;MQ=50.31;MQ0=0;QD=24.35;SB=-2523.24;TI=NM_000549;GI=TSHB;FC=Missense_T14A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,154:155:99:3774,265,0:1.000:99 chr1 150771703 rs10788796 T C 4294.32 PASS AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9330;MQ=47.77;MQ0=0;QD=23.86;SB=-3268.06;TI=NM_000396;GI=CTSK;FC=Synonymous_A277A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,180:180:99:4294,295,0:1.000:99 chr1 155214473 rs12034326 A G 1505.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.812;DP=148;Dels=0.00;FS=2.954;HRun=3;HaplotypeScore=9.1219;MQ=51.07;MQ0=0;MQRankSum=1.491;QD=10.17;ReadPosRankSum=0.986;SB=-1061.46;TI=NM_001171811,NM_001005742,NM_001005741;GI=GBA,GBA,GBA;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:81,67:148:99:1535,0,1793:0.453:99 chr1 155214640 . CGA CGAGA,C 1995.63 PASS AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-0.506;DP=134;FS=0.000;HaplotypeScore=317.8638;MQ=51.10;MQ0=0;MQRankSum=-1.306;QD=14.89;ReadPosRankSum=-1.572;SB=-835.25;TI=NM_001171811,NM_001005742,NM_001005741;GI=GBA,GBA,GBA;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:83,3,31:133:99:2074,1288,1822,924,0,1439:0.291:99 chr1 155259323 rs8847 C T 1375.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.449;DP=142;Dels=0.00;FS=0.626;HRun=0;HaplotypeScore=2.6548;MQ=47.71;MQ0=0;MQRankSum=1.967;QD=9.69;ReadPosRankSum=0.514;SB=-1093.00;TI=NM_020897,NM_181871,NM_000298;GI=HCN3,PKLR,PKLR;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,69:142:99:1405,0,1443:0.486:99 chr1 155260096 rs932972 G A 485.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.230;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48.59;MQ0=0;MQRankSum=0.333;QD=6.74;ReadPosRankSum=2.170;SB=-434.85;TI=NM_181871,NM_000298;GI=PKLR,PKLR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,29:72:99:515,0,901:0.403:99 chr1 155260350 rs1052177 A G 180.47 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.473;DP=16;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=50.90;MQ0=0;MQRankSum=0.473;QD=11.28;ReadPosRankSum=-1.103;SB=-57.16;TI=NM_181871,NM_000298;GI=PKLR,PKLR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,8:16:99:210,0,180:0.500:99 chr1 155260383 rs1052176 G T 634.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.010;DP=51;Dels=0.00;FS=1.142;HRun=0;HaplotypeScore=3.7448;MQ=47.26;MQ0=0;MQRankSum=-0.435;QD=12.44;ReadPosRankSum=-0.495;SB=-523.86;TI=NM_181871,NM_000298;GI=PKLR,PKLR;FC=Synonymous_R538R,Synonymous_R569R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,32:51:99:664,0,358:0.640:99 chr1 156785617 rs1800601 G A 2022.81 PASS AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4377;MQ=48.55;MQ0=0;QD=22.73;SB=-1700.99;TI=NM_001161443,NM_003975,NM_001161442,NM_001161441,NM_001161444,NM_001007792;GI=SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A,NTRK1;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,89:89:99:2056,141,0:1.000:99 chr1 156846233 rs6334 G A 1002.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.002;DP=71;Dels=0.00;FS=2.136;HRun=1;HaplotypeScore=2.7822;MQ=47.64;MQ0=0;MQRankSum=-0.195;QD=14.12;ReadPosRankSum=0.611;SB=-844.84;TI=NM_001007792,NM_001012331,NM_002529;GI=NTRK1,NTRK1,NTRK1;FC=Synonymous_Q522Q,Synonymous_Q552Q,Synonymous_Q558Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,50:71:99:1032,0,410:0.704:99 chr1 156848995 rs6337 C T 1735.09 PASS AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52.03;MQ0=0;QD=24.79;SB=-1342.23;TI=NM_001007792,NM_001012331,NM_002529;GI=NTRK1,NTRK1,NTRK1;FC=Synonymous_A593A,Synonymous_A623A,Synonymous_A629A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,70:70:99:1768,123,0:1.000:99 chr1 167399962 rs947480 T C 3371.39 PASS AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3882;MQ=52.39;MQ0=0;QD=26.76;SB=-1785.10;TI=NM_000734,NM_198053;GI=CD247,CD247;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,126:126:99:3371,241,0:1.000:99 chr1 167400074 rs1052231 T A 497.61 LowDP AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.18;MQ0=0;QD=26.19;SB=-312.86;TI=NM_000734,NM_198053;GI=CD247,CD247;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,19:19:39.13:531,39,0:1.000:39 chr1 179519880 rs1060775 T C 207.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.347;DP=21;Dels=0.00;FS=1.922;HRun=0;HaplotypeScore=1.7882;MQ=58.20;MQ0=0;MQRankSum=0.270;QD=9.88;ReadPosRankSum=-1.196;SB=-101.04;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,8:21:99:237,0,357:0.400:99 chr1 179520050 rs2274622 T C 1930.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.220;DP=167;Dels=0.00;FS=1.934;HRun=2;HaplotypeScore=7.3566;MQ=51.43;MQ0=0;MQRankSum=1.233;QD=11.56;ReadPosRankSum=-0.105;SB=-1510.93;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,95:167:99:1960,0,1402:0.569:99 chr1 179520151 rs1410590 C T 358.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.290;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8884;MQ=58.33;MQ0=0;MQRankSum=-0.875;QD=12.81;ReadPosRankSum=0.691;SB=-34.63;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,15:28:99:389,0,446:0.536:99 chr1 179520254 rs1410591 C G 407.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.062;DP=48;Dels=0.00;FS=1.103;HRun=2;HaplotypeScore=0.8941;MQ=45.46;MQ0=0;MQRankSum=-0.998;QD=8.49;ReadPosRankSum=-1.289;SB=-259.81;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,21:48:99:438,0,577:0.438:99 chr1 179520506 rs1410592 G A 1037.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.814;DP=79;Dels=0.00;FS=0.867;HRun=0;HaplotypeScore=0.9789;MQ=51.38;MQ0=0;MQRankSum=1.178;QD=13.14;ReadPosRankSum=0.621;SB=-685.68;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Synonymous_A318A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,46:79:99:1068,0,620:0.582:99 chr1 179544898 rs1079292 T C 1530.70 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8499;MQ=46.92;MQ0=0;QD=22.85;SB=-1099.86;TI=NM_014625;GI=NPHS2;FC=Synonymous_G34G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:67:99:1564,108,0:1.000:99 chr1 183155482 rs684527 C A 450.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.061;DP=28;Dels=0.00;FS=1.850;HRun=0;HaplotypeScore=1.8936;MQ=48.85;MQ0=0;MQRankSum=-0.478;QD=16.08;ReadPosRankSum=0.318;SB=-233.55;TI=NM_018891,NM_005562;GI=LAMC2,LAMC2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,21:28:99:480,0,104:0.750:99 chr1 209799253 rs2179402 A G 976.09 PASS AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.20;MQ0=0;QD=22.70;SB=-792.02;TI=NM_001017402,NM_001127641,NM_000228;GI=LAMB3,LAMB3,LAMB3;FC=Synonymous_C572C,Synonymous_C572C,Synonymous_C572C;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,43:43:69.23:1009,69,0:1.000:69 chr1 209807972 rs1130667 G A 1992.97 PASS AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=42.50;MQ0=1;QD=22.91;SB=-1549.79;TI=NM_001017402,NM_001127641,NM_000228;GI=LAMB3,LAMB3,LAMB3;FC=Synonymous_P128P,Synonymous_P128P,Synonymous_P128P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,87:87:99:2026,138,0:1.000:99 chr1 209811886 rs2076356 T G 2467.61 PASS AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=44.71;MQ0=0;QD=23.50;SB=-1939.63;TI=NM_001017402,NM_001127641,NM_000228;GI=LAMB3,LAMB3,LAMB3;FC=Synonymous_S97S,Synonymous_S97S,Synonymous_S97S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,105:105:99:2501,172,0:1.000:99 chr1 215796350 rs6667509 T G 1672.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.746;DP=119;Dels=0.00;FS=2.469;HRun=0;HaplotypeScore=4.5979;MQ=51.88;MQ0=0;MQRankSum=2.814;QD=14.05;ReadPosRankSum=-0.972;SB=-892.60;TI=NM_206933;GI=USH2A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,71:119:99:1702,0,973:0.597:99 chr1 215798014 rs2797255 G A 3469.15 PASS AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2519;MQ=52.51;MQ0=0;QD=27.75;SB=-1687.81;TI=NM_206933;GI=USH2A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,125:125:99:3469,247,0:1.000:99 chr1 215847956 . C A 141.24 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.295;DP=15;Dels=0.00;FS=2.187;HRun=1;HaplotypeScore=0.0000;MQ=53.11;MQ0=0;MQRankSum=1.355;QD=9.42;ReadPosRankSum=1.591;SB=-27.97;TI=NM_206933;GI=USH2A;FC=Missense_V4433L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,6:15:99:171,0,247:0.400:99 chr1 215848641 rs2797235 T C 3695.63 PASS AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1368;MQ=50.32;MQ0=0;QD=23.54;SB=-3009.86;TI=NM_206933;GI=USH2A;FC=Synonymous_T4204T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,157:157:99:3696,256,0:1.000:99 chr1 215914826 rs35309576 T C 2703.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.677;DP=246;Dels=0.00;FS=1.583;HRun=0;HaplotypeScore=11.7207;MQ=53.64;MQ0=0;MQRankSum=2.954;QD=10.99;ReadPosRankSum=-0.408;SB=-1913.98;TI=NM_206933;GI=USH2A;FC=Missense_M3868V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:122,124:246:99:2734,0,2731:0.504:99 chr1 215916563 rs11120616 G A 819.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.235;DP=126;Dels=0.00;FS=1.534;HRun=1;HaplotypeScore=3.6689;MQ=45.73;MQ0=0;MQRankSum=0.334;QD=6.51;ReadPosRankSum=2.002;SB=-521.58;TI=NM_206933;GI=USH2A;FC=Missense_T3835I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,43:126:99:850,0,1860:0.341:99 chr1 215960167 rs10864198 T G 1944.19 PASS AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.20;MQ0=0;QD=24.93;SB=-1384.69;TI=NM_206933;GI=USH2A;FC=Missense_E3411A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,78:78:99:1977,138,0:1.000:99 chr1 216172380 rs10864219 A G 4095.41 PASS AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=50.99;MQ0=0;QD=29.05;SB=-1797.21;TI=NM_206933;GI=USH2A;FC=Missense_I2169T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,141:141:99:4095,295,0:1.000:99 chr1 216219781 rs6657250 A G 1280.57 PASS AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8614;MQ=41.88;MQ0=0;QD=22.87;SB=-1027.78;TI=NM_206933;GI=USH2A;FC=Missense_I2106T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:56:90.30:1314,90,0:1.000:90 chr1 216348764 rs1805049 C T 3096.72 PASS AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=51.14;MQ0=0;QD=23.64;SB=-2509.94;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Missense_R1486K,Missense_R1486K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,131:131:99:3130,217,0:1.000:99 chr1 216424303 rs45555435 A G 1846.59 PASS AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8888;MQ=46.86;MQ0=1;QD=23.67;SB=-1421.40;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Synonymous_D703D,Synonymous_D703D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,77:78:99:1880,132,0:1.000:99 chr1 216496932 rs35730265 C G 867.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.511;DP=75;Dels=0.00;FS=1.913;HRun=0;HaplotypeScore=5.6815;MQ=48.18;MQ0=0;MQRankSum=0.716;QD=11.57;ReadPosRankSum=1.532;SB=-621.61;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Missense_E478D,Missense_E478D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,39:75:99:898,0,757:0.520:99 chr1 220323793 . CT C 72.38 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.588;DP=39;FS=0.000;HRun=20;HaplotypeScore=178.6297;MQ=37.75;MQ0=0;MQRankSum=1.222;QD=1.86;ReadPosRankSum=1.856;SB=-19.09;TI=NM_012414;GI=RAB3GAP2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,8:38:99:111,0,147:0.333:72 chr1 225607144 rs2230419 C T 3233.06 PASS AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=48.02;MQ0=0;QD=25.26;SB=-2404.39;TI=NM_002296,NM_194442;GI=LBR,LBR;FC=Missense_S154N,Missense_S154N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,128:128:99:3267,229,0:1.000:99 chr1 225609884 rs1056608 A G 3821.10 PASS AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=4.4730;MQ=53.14;MQ0=0;QD=27.69;SB=-2385.63;TI=NM_002296,NM_194442;GI=LBR,LBR;FC=Synonymous_P87P,Synonymous_P87P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,138:138:99:3821,274,0:1.000:99 chr1 225611661 rs1056607 C T 6237.73 PASS AC=2;AF=1.00;AN=2;DP=242;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4704;MQ=50.15;MQ0=0;QD=25.78;SB=-4697.64;TI=NM_002296,NM_194442;GI=LBR,LBR;FC=Synonymous_V39V,Synonymous_V39V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,242:242:99:6238,439,0:1.000:99 chr1 227172290 rs12593 C T 691.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.670;DP=70;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7608;MQ=45.06;MQ0=0;MQRankSum=0.211;QD=9.88;ReadPosRankSum=0.787;SB=-573.61;TI=NM_020247;GI=ADCK3;FC=Synonymous_F480F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,35:70:99:722,0,715:0.500:99 chr1 227174210 rs3738725 T C 1048.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.807;DP=78;Dels=0.00;FS=0.895;HRun=1;HaplotypeScore=6.2920;MQ=45.26;MQ0=0;MQRankSum=-2.193;QD=13.44;ReadPosRankSum=1.068;SB=-829.55;TI=NM_020247;GI=ADCK3;FC=Synonymous_S572S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,50:78:99:1078,0,567:0.641:99 chr1 227174823 rs11420839 A AT 510.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.527;DP=30;FS=0.000;HRun=4;HaplotypeScore=23.9971;MQ=57.47;MQ0=0;MQRankSum=1.883;QD=17.01;ReadPosRankSum=0.377;SB=-128.72;TI=NM_020247;GI=ADCK3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,16:30:99:549,0,303:0.533:99 chr1 227175050 . C T 100.05 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.550;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.550;QD=14.29;ReadPosRankSum=0.937;SB=-25.54;TI=NM_020247;GI=ADCK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,4:7:66.72:130,0,67:0.571:66 chr1 227175165 rs16846762 C T 1441.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.506;DP=155;Dels=0.00;FS=2.861;HRun=0;HaplotypeScore=6.4426;MQ=52.03;MQ0=0;MQRankSum=-5.194;QD=9.30;ReadPosRankSum=0.513;SB=-955.22;TI=NM_020247;GI=ADCK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,69:155:99:1472,0,1751:0.445:99 chr1 227175245 . C CT 2868.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-6.137;DP=168;FS=0.573;HRun=3;HaplotypeScore=916.8645;MQ=53.29;MQ0=0;MQRankSum=7.282;QD=17.08;ReadPosRankSum=1.859;SB=-1326.37;TI=NM_020247;GI=ADCK3;FC=Splicing;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,86:168:99:2908,0,2594:0.518:99 chr1 228347352 rs6668719 A G 1700.66 PASS AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.27;MQ0=0;QD=25.01;SB=-1259.56;TI=NM_020435;GI=GJC2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,68:68:99:1734,120,0:1.000:99 chr1 235940450 rs2273584 C T 2918.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.621;DP=293;Dels=0.00;FS=1.408;HRun=3;HaplotypeScore=8.2549;MQ=54.61;MQ0=0;MQRankSum=2.841;QD=9.96;ReadPosRankSum=0.942;SB=-2120.60;TI=NM_000081;GI=LYST;FC=Synonymous_K1791K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:155,137:293:99:2948,0,3316:0.469:99 chr1 235945294 rs6696123 T C 4230.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.706;DP=354;Dels=0.00;FS=1.266;HRun=0;HaplotypeScore=19.9634;MQ=53.49;MQ0=0;MQRankSum=0.952;QD=11.95;ReadPosRankSum=0.607;SB=-3009.89;TI=NM_000081;GI=LYST;FC=Synonymous_L1652L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:160,194:354:99:4231,0,3504:0.548:99 chr1 235972435 rs3820553 T C 256.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.445;DP=23;Dels=0.00;FS=1.740;HRun=0;HaplotypeScore=1.7882;MQ=52.22;MQ0=0;MQRankSum=-1.313;QD=11.15;ReadPosRankSum=1.116;SB=-130.57;TI=NM_000081;GI=LYST;FC=Synonymous_L561L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,11:23:99:287,0,276:0.500:99 chr1 235972867 rs1063128 T C 1791.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.869;DP=130;Dels=0.00;FS=2.325;HRun=0;HaplotypeScore=3.7258;MQ=53.30;MQ0=0;MQRankSum=0.538;QD=13.78;ReadPosRankSum=-2.436;SB=-1264.01;TI=NM_000081;GI=LYST;FC=Synonymous_Q417Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,81:130:99:1821,0,1106:0.623:99 chr1 241667523 rs61737760 C T 935.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.781;DP=81;Dels=0.00;FS=0.888;HRun=2;HaplotypeScore=3.7862;MQ=51.77;MQ0=0;MQRankSum=0.544;QD=11.56;ReadPosRankSum=-0.544;SB=-514.86;TI=NM_000143;GI=FH;FC=Synonymous_P309P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,43:81:99:966,0,967:0.531:99 chr2 26413817 rs1049987 C T 711.21 PASS AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8888;MQ=49.99;MQ0=0;QD=23.71;SB=-462.93;TI=NM_000182;GI=HADHA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,30:30:54.16:744,54,0:1.000:54 chr2 26455127 rs11552518 G A 8277.48 PASS AC=2;AF=1.00;AN=2;DP=323;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4691;MQ=52.64;MQ0=0;QD=25.63;SB=-5886.92;TI=NM_000182;GI=HADHA;FC=Synonymous_Y158Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,323:323:99:8277,581,0:1.000:99 chr2 26467653 rs72809668 C T 1079.42 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.288;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2917;MQ=56.44;MQ0=0;MQRankSum=0.222;QD=27.68;ReadPosRankSum=-0.844;SB=-499.64;TI=NM_000183;GI=HADHB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,38:39:84.27:1112,84,0:0.974:84 chr2 26477125 . G GACT 19444.80 PASS AC=2;AF=1.00;AN=2;DP=338;FS=0.000;HRun=0;HaplotypeScore=143.2526;MQ=55.74;MQ0=0;QD=57.53;SB=-9286.91;TI=NM_000183;GI=HADHB;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:7,328:338:99:19445,1008,0:0.979:99 chr2 26502875 rs1056389 T C 7730.78 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.277;DP=289;Dels=0.00;FS=3.495;HRun=0;HaplotypeScore=11.1709;MQ=51.49;MQ0=0;MQRankSum=1.672;QD=26.75;ReadPosRankSum=-0.174;SB=-4888.44;TI=NM_000183;GI=HADHB;FC=Synonymous_V275V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,288:289:99:7731,517,0:0.997:99 chr2 26512957 rs1056471 G C 2920.69 PASS AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.06;MQ0=0;QD=26.08;SB=-2087.55;TI=NM_000183;GI=HADHB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,112:112:99:2954,208,0:1.000:99 chr2 31749714 rs1042578 C T 1466.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.998;DP=157;Dels=0.00;FS=2.018;HRun=0;HaplotypeScore=4.4704;MQ=51.04;MQ0=0;MQRankSum=1.414;QD=9.34;ReadPosRankSum=0.263;SB=-1166.79;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,73:157:99:1496,0,1779:0.468:99 chr2 31750113 . T TA 77.40 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.379;DP=76;FS=3.702;HRun=14;HaplotypeScore=132.0710;MQ=56.29;MQ0=0;MQRankSum=1.045;QD=1.02;ReadPosRankSum=-0.526;SB=-38.20;TI=NM_000348;GI=SRD5A2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,10:76:99:116,0,973:0.164:77 chr2 31750417 rs9332975 T C 682.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.100;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=49.54;MQ0=0;MQRankSum=0.688;QD=7.58;ReadPosRankSum=0.325;SB=-579.65;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,36:90:99:712,0,1224:0.400:99 chr2 31751166 . C T 176.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.902;DP=21;Dels=0.00;FS=4.612;HRun=0;HaplotypeScore=0.0000;MQ=47.17;MQ0=0;MQRankSum=-2.798;QD=8.39;ReadPosRankSum=-1.828;SB=-61.19;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,7:21:99:206,0,383:0.333:99 chr2 31751178 . A T 467.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.745;DP=35;Dels=0.00;FS=7.473;HRun=0;HaplotypeScore=10.5605;MQ=46.17;MQ0=0;MQRankSum=-3.791;QD=13.36;ReadPosRankSum=-1.838;SB=-205.64;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,16:35:99:498,0,478:0.457:99 chr2 31805706 rs523349 G C 2619.29 PASS AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.28;MQ0=0;QD=25.68;SB=-1528.85;TI=NM_000348;GI=SRD5A2;FC=Synonymous_A88A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,102:102:99:2652,190,0:1.000:99 chr2 31805826 rs9282858 C T 936.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.957;DP=125;Dels=0.00;FS=0.675;HRun=1;HaplotypeScore=10.3475;MQ=56.32;MQ0=0;MQRankSum=1.434;QD=7.50;ReadPosRankSum=0.198;SB=-739.71;TI=NM_000348;GI=SRD5A2;FC=Synonymous_Q48Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:74,51:125:99:967,0,1604:0.408:99 chr2 31805880 . A AG 3682.82 PASS AC=2;AF=1.00;AN=2;DP=96;FS=0.000;HRun=2;HaplotypeScore=244.5215;MQ=57.83;MQ0=0;QD=38.36;SB=-1375.92;TI=NM_000348;GI=SRD5A2;FC=Frameshift;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,91:96:99:3683,274,0:0.948:99 chr2 31806031 rs632148 C G 1692.59 PASS AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=49.72;MQ0=0;QD=24.53;SB=-1294.57;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,69:69:99:1726,120,0:1.000:99 chr2 44114074 rs1139250 G A 451.22 PASS AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=42.13;MQ0=0;QD=20.51;SB=-386.11;TI=NM_133259;GI=LRPPRC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,22:22:33.11:484,33,0:1.000:33 chr2 44209477 rs6741066 C T 8600.12 PASS AC=2;AF=1.00;AN=2;DP=322;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4035;MQ=52.18;MQ0=0;QD=26.71;SB=-5550.62;TI=NM_133259;GI=LRPPRC;FC=Synonymous_Q82Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,322:322:99:8600,611,0:1.000:99 chr2 48982755 . G GGCTGCA 1410.07 LowDP AC=2;AF=1.00;AN=2;DP=18;FS=0.000;HRun=0;HaplotypeScore=4.3314;MQ=52.32;MQ0=0;QD=78.34;SB=-686.94;TI=NM_001198593,NM_000233;GI=STON1-GTF2A1L,LHCGR;FC=Noncoding,2AA_Insertion;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,16:18:51.18:1452,51,0:0.941:51 chr2 61276263 rs1177230 G A 4601.35 PASS AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=49.60;MQ0=0;QD=26.29;SB=-3171.18;TI=NM_002618;GI=PEX13;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,175:175:99:4601,328,0:1.000:99 chr2 61276332 . AT A 182.27 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.858;DP=164;FS=5.201;HRun=15;HaplotypeScore=503.2933;MQ=52.70;MQ0=0;MQRankSum=0.497;QD=1.11;ReadPosRankSum=-0.162;SB=-48.74;TI=NM_002618;GI=PEX13;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:113,24:164:99:221,0,2156:0.175:99 chr2 61277941 . A T 22.19 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.436;DP=24;Dels=0.00;FS=6.767;HRun=1;HaplotypeScore=1.7262;MQ=45.72;MQ0=0;MQRankSum=-1.484;QD=0.92;ReadPosRankSum=-1.484;SB=-0.01;TI=NM_002618;GI=PEX13;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,3:24:52.16:52,0,465:0.125:22 chr2 61277944 . G A 19.21 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.765;DP=22;Dels=0.00;FS=6.607;HRun=1;HaplotypeScore=0.8321;MQ=47.51;MQ0=0;MQRankSum=-1.913;QD=0.87;ReadPosRankSum=-1.339;SB=-0.01;TI=NM_002618;GI=PEX13;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,3:22:49.15:49,0,492:0.136:19 chr2 61277949 . G A 16.26 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.571;DP=24;Dels=0.00;FS=6.690;HRun=0;HaplotypeScore=0.0000;MQ=48.67;MQ0=0;MQRankSum=-2.008;QD=0.68;ReadPosRankSum=-0.611;SB=-0.01;TI=NM_002618;GI=PEX13;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,3:24:46.15:46,0,522:0.125:16 chr2 61277952 . T C 13.34 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.484;DP=24;Dels=0.00;FS=6.690;HRun=0;HaplotypeScore=0.0000;MQ=48.67;MQ0=0;MQRankSum=-2.008;QD=0.56;ReadPosRankSum=-0.611;SB=-0.01;TI=NM_002618;GI=PEX13;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,3:24:43.13:43,0,580:0.125:13 chr2 73613035 . G C 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.720;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=51.77;MQ0=0;MQRankSum=-1.380;QD=3.64;ReadPosRankSum=-1.380;SB=-0.01;TI=NM_015120;GI=ALMS1;FC=Missense_E13D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:51.82:52,0,109:0.333:21 chr2 73613038 . G C 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.380;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=51.77;MQ0=0;MQRankSum=-1.380;QD=3.64;ReadPosRankSum=-1.380;SB=-0.01;TI=NM_015120;GI=ALMS1;FC=Missense_E14D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:51.82:52,0,101:0.333:21 chr2 73613047 . G C 15.92 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.95;MQ0=0;MQRankSum=-1.589;QD=1.99;ReadPosRankSum=0.000;SB=-0.01;TI=NM_015120;GI=ALMS1;FC=Missense_E17D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:45.80:46,0,182:0.250:15 chr2 73675227 . T C 68.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.268;DP=20;Dels=0.00;FS=1.922;HRun=1;HaplotypeScore=13.8865;MQ=49.04;MQ0=0;MQRankSum=-1.347;QD=3.41;ReadPosRankSum=-3.645;SB=-80.29;TI=NM_015120;GI=ALMS1;FC=Missense_S524P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,7:20:98.19:98,0,319:0.350:68 chr2 73675227 . T TCTC 1046.43 PASS AC=2;AF=1.00;AN=2;DP=20;FS=0.000;HRun=0;HaplotypeScore=9.2398;MQ=49.04;MQ0=0;QD=52.32;SB=-486.01;TI=NM_015120;GI=ALMS1;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:7,13:20:60.20:1088,60,0:0.650:60 chr2 73675669 rs2037814 T G 637.25 PASS AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.61;MQ0=0;QD=27.71;SB=-387.80;TI=NM_015120;GI=ALMS1;FC=Missense_V671G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,23:23:51.14:670,51,0:1.000:51 chr2 73675844 rs7598901 C T 3333.63 PASS AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=22.7676;MQ=45.33;MQ0=0;QD=22.99;SB=-2705.45;TI=NM_015120;GI=ALMS1;FC=Synonymous_F729F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,142:145:99:3334,232,0:1.000:99 chr2 73828538 rs1052161 G A 867.26 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.459;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5737;MQ=47.90;MQ0=0;MQRankSum=1.641;QD=22.82;ReadPosRankSum=-0.912;SB=-609.42;TI=NM_015120;GI=ALMS1;FC=Missense_R4029K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,37:38:63.21:900,63,0:0.974:63 chr2 84650707 rs2832;rs11555949 A G 6309.72 PASS AC=2;AF=1.00;AN=2;DP=264;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2401;MQ=51.53;MQ0=0;QD=23.90;SB=-5117.57;TI=NM_003849;GI=SUCLG1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,264:264:99:6310,436,0:1.000:99 chr2 85893741 rs1130866 G A 2790.49 PASS AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3265;MQ=48.98;MQ0=0;QD=25.37;SB=-1847.72;TI=NM_000542,NM_198843;GI=SFTPB,SFTPB;FC=Missense_T143I,Missense_T143I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,110:110:99:2823,199,0:1.000:99 chr2 85895338 rs2077079 T G 1386.26 PASS AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6548;MQ=51.87;MQ0=0;QD=24.32;SB=-966.13;TI=NM_000542,NM_198843;GI=SFTPB,SFTPB;FC=Missense_H2P,Missense_H2P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:57:99:1419,102,0:1.000:99 chr2 86088311 rs3731824 T C 2081.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.838;DP=201;Dels=0.00;FS=1.100;HRun=0;HaplotypeScore=7.4290;MQ=49.06;MQ0=0;MQRankSum=-0.430;QD=10.36;ReadPosRankSum=-0.709;SB=-1565.61;TI=NM_003896,NM_001042437;GI=ST3GAL5,ST3GAL5;FC=Missense_H104R,Missense_H81R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:101,99:201:99:2111,0,2213:0.495:99 chr2 88874891 rs1805165 C A 1789.45 PASS AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7871;MQ=51.46;MQ0=0;QD=23.86;SB=-1288.86;TI=NM_004836;GI=EIF2AK3;FC=Missense_A704S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,75:75:99:1822,126,0:1.000:99 chr2 88879131 rs1805164 T C 3008.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.174;DP=251;Dels=0.00;FS=2.179;HRun=0;HaplotypeScore=13.5401;MQ=53.09;MQ0=0;MQRankSum=-0.179;QD=11.99;ReadPosRankSum=-1.647;SB=-1999.47;TI=NM_004836;GI=EIF2AK3;FC=Synonymous_Q597Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:112,138:251:99:3038,0,2485:0.552:99 chr2 88895123 rs13045 T C 2209.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.401;DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9635;MQ=51.27;MQ0=0;MQRankSum=2.775;QD=9.95;ReadPosRankSum=0.757;SB=-1632.24;TI=NM_004836;GI=EIF2AK3;FC=Missense_Q166R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:115,107:222:99:2240,0,2565:0.482:99 chr2 88926729 rs72416210 CCAG C 1102.29 PASS AC=2;AF=1.00;AN=2;DP=27;FS=0.000;HRun=0;HaplotypeScore=17.7648;MQ=42.11;MQ0=0;QD=40.83;SB=-494.44;TI=NM_004836;GI=EIF2AK3;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,21:27:69.23:1144,69,0:0.840:69 chr2 110922703 rs11675767 C T 7723.44 PASS AC=2;AF=1.00;AN=2;DP=270;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=17.7207;MQ=52.66;MQ0=0;QD=28.61;SB=-4517.61;TI=NM_001128178,NM_207181,NM_000272,NM_001128179;GI=NPHP1,NPHP1,NPHP1,NPHP1;FC=Synonymous_E218E,Synonymous_E218E,Synonymous_E218E,Synonymous_E156E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,270:270:99:7723,557,0:1.000:99 chr2 113875509 rs2234677 G A 189.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.377;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=46.04;MQ0=0;MQRankSum=0.419;QD=5.92;ReadPosRankSum=-2.347;SB=-88.36;TI=NM_000577,NM_173841,NM_173843;GI=IL1RN,IL1RN,IL1RN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,9:32:99:219,0,583:0.281:99 chr2 113875565 rs2234678 A G 200.81 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-1.466;DP=53;Dels=0.00;FS=3.174;HRun=1;HaplotypeScore=2.8752;MQ=49.96;MQ0=0;MQRankSum=1.080;QD=3.79;ReadPosRankSum=1.103;SB=-51.44;TI=NM_000577,NM_173841,NM_173843;GI=IL1RN,IL1RN,IL1RN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,10:53:99:231,0,963:0.189:99 chr2 113875584 rs2234679 G C 352.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.062;DP=81;Dels=0.00;FS=3.763;HRun=0;HaplotypeScore=8.5455;MQ=49.02;MQ0=0;MQRankSum=-0.460;QD=4.35;ReadPosRankSum=1.108;SB=-132.97;TI=NM_000577,NM_173841,NM_173843;GI=IL1RN,IL1RN,IL1RN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,18:81:99:383,0,1430:0.222:99 chr2 113887207 rs419598 T C 2567.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.429;DP=262;Dels=0.00;FS=0.451;HRun=1;HaplotypeScore=12.0183;MQ=50.14;MQ0=0;MQRankSum=-1.083;QD=9.80;ReadPosRankSum=0.670;SB=-2107.64;TI=NM_000577,NM_173841,NM_173843,NM_173842;GI=IL1RN,IL1RN,IL1RN,IL1RN;FC=Synonymous_A39A,Synonymous_A60A,Synonymous_A23A,Synonymous_A57A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:133,128:262:99:2598,0,2700:0.490:99 chr2 113891412 rs9005 G A 635.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.023;DP=73;Dels=0.00;FS=1.942;HRun=0;HaplotypeScore=3.5764;MQ=50.61;MQ0=0;MQRankSum=-0.788;QD=8.70;ReadPosRankSum=1.241;SB=-491.93;TI=NM_000577,NM_173841,NM_173843,NM_173842;GI=IL1RN,IL1RN,IL1RN,IL1RN;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,32:73:99:665,0,856:0.444:99 chr2 135893372 rs10445686 A G 2942.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.068;DP=238;Dels=0.00;FS=2.922;HRun=0;HaplotypeScore=4.4704;MQ=50.45;MQ0=0;MQRankSum=1.353;QD=12.36;ReadPosRankSum=-2.435;SB=-1678.24;TI=NM_001172435,NM_012233;GI=RAB3GAP1,RAB3GAP1;FC=Missense_N598S,Missense_N598S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:111,127:238:99:2972,0,2456:0.534:99 chr2 135911422 rs17261772 T C 1585.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.181;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0379;MQ=50.57;MQ0=0;MQRankSum=-1.623;QD=9.97;ReadPosRankSum=-2.100;SB=-1139.23;TI=NM_001172435,NM_012233;GI=RAB3GAP1,RAB3GAP1;FC=Synonymous_F755F,Synonymous_F755F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,75:159:99:1615,0,1876:0.475:99 chr2 135927544 . TA T 200.33 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.475;DP=54;FS=2.691;HRun=15;HaplotypeScore=149.2098;MQ=52.01;MQ0=0;MQRankSum=-0.081;QD=3.71;ReadPosRankSum=-1.657;SB=-119.12;TI=NM_001172435,NM_012233;GI=RAB3GAP1,RAB3GAP1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,10:54:99:239,0,442:0.217:99 chr2 152352843 rs7575451 C G 6928.83 PASS AC=2;AF=1.00;AN=2;DP=241;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.8906;MQ=52.62;MQ0=1;QD=28.75;SB=-3586.75;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_A6277P,Missense_A8145P,Missense_A8145P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,241:241:99:6929,503,0:1.000:99 chr2 152385739 rs34718443 G A 1996.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.757;DP=169;Dels=0.00;FS=2.709;HRun=0;HaplotypeScore=7.9920;MQ=53.73;MQ0=0;MQRankSum=0.792;QD=11.81;ReadPosRankSum=-1.044;SB=-1442.65;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_Y5527Y,Synonymous_Y7240Y,Synonymous_Y7240Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,93:169:99:2026,0,1671:0.550:99 chr2 152387553 rs4664475 T C 1087.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.141;DP=110;Dels=0.00;FS=2.483;HRun=0;HaplotypeScore=0.8941;MQ=47.93;MQ0=0;MQRankSum=-0.852;QD=9.89;ReadPosRankSum=1.265;SB=-864.46;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_T5482T,Synonymous_T7195T,Synonymous_T7195T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,56:110:99:1117,0,1219:0.509:99 chr2 152398045 rs16830192 G C 1606.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.479;DP=187;Dels=0.00;FS=1.853;HRun=2;HaplotypeScore=6.6813;MQ=50.56;MQ0=0;MQRankSum=0.096;QD=8.59;ReadPosRankSum=-0.035;SB=-1272.55;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_G5153G,Synonymous_G6866G,Synonymous_G6866G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:106,79:187:99:1636,0,2183:0.427:99 chr2 152404218 rs2288200 T A 1527.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.719;DP=129;Dels=0.00;FS=0.660;HRun=0;HaplotypeScore=3.5764;MQ=48.44;MQ0=0;MQRankSum=-1.776;QD=11.84;ReadPosRankSum=-0.230;SB=-1094.78;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_D5018V,Missense_D6731V,Missense_D6731V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,72:129:99:1557,0,1167:0.558:99 chr2 152422076 rs2288210 C G 6574.39 PASS AC=2;AF=1.00;AN=2;DP=274;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=51.20;MQ0=0;QD=23.99;SB=-5274.30;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_R4389T,Missense_R6102T,Missense_R6102T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,274:274:99:6574,455,0:1.000:99 chr2 152422087 rs2288211 A G 2707.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.622;DP=271;Dels=0.00;FS=0.931;HRun=2;HaplotypeScore=8.1514;MQ=51.81;MQ0=0;MQRankSum=0.729;QD=9.99;ReadPosRankSum=0.621;SB=-2195.55;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_Y4385Y,Synonymous_Y6098Y,Synonymous_Y6098Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:136,135:271:99:2738,0,2749:0.498:99 chr2 152432811 rs35227368 A T 865.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.458;DP=106;Dels=0.00;FS=2.531;HRun=0;HaplotypeScore=2.9889;MQ=47.69;MQ0=0;MQRankSum=-0.862;QD=8.16;ReadPosRankSum=1.728;SB=-654.03;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_S3875T,Missense_S5588T,Missense_S5588T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,44:106:99:895,0,1305:0.415:99 chr2 152436012 rs62174690 T G 232.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.722;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=12.26;MQ0=110;MQRankSum=1.357;QD=1.73;ReadPosRankSum=-0.491;SB=-146.40;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Silent,Missense_K5515T,Missense_K5515T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,36:134:99:262,0,220:0.269:99 chr2 152436014 rs2288214 G C 190.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.837;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=12.22;MQ0=111;MQRankSum=-1.934;QD=1.41;ReadPosRankSum=0.375;SB=-106.40;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Silent,Synonymous_A5514A,Synonymous_A5514A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,36:135:99:220,0,262:0.267:99 chr2 152476130 rs6717213 C T 1098.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.003;DP=109;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.8929;MQ=43.37;MQ0=0;MQRankSum=-3.028;QD=10.08;ReadPosRankSum=1.864;SB=-844.83;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_K3314K,Synonymous_K3569K,Synonymous_K3569K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,56:109:99:1129,0,1088:0.514:99 chr2 152490219 rs6709886 A G 809.04 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=44.87;MQ0=0;QD=25.28;SB=-506.95;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Silent,Synonymous_P3121P,Synonymous_P3121P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,32:32:60.20:842,60,0:1.000:60 chr2 152490458 rs6710212 A G 673.62 PASS AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.99;MQ0=0;QD=28.07;SB=-361.05;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Silent,Missense_C3042R,Missense_C3042R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,24:24:51.17:707,51,0:1.000:51 chr2 152496526 rs6713162 A G 2135.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.712;DP=212;Dels=0.00;FS=1.700;HRun=2;HaplotypeScore=14.0957;MQ=48.54;MQ0=0;MQRankSum=0.726;QD=10.07;ReadPosRankSum=1.054;SB=-1467.76;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_S2912P,Missense_S2912P,Missense_S2912P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:115,97:212:99:2165,0,2593:0.458:99 chr2 152500449 rs13013209 C G 282.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.764;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=45.10;MQ0=0;MQRankSum=-1.931;QD=4.96;ReadPosRankSum=-1.193;SB=-260.47;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_K2613N,Missense_K2613N,Missense_K2613N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,18:57:99:313,0,829:0.316:99 chr2 152521096 rs10170273 C T 1678.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.973;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.8311;MQ=50.76;MQ0=0;MQRankSum=2.050;QD=10.05;ReadPosRankSum=-0.248;SB=-1333.06;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_E1790E,Synonymous_E1790E,Synonymous_E1790E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,84:167:99:1708,0,1740:0.503:99 chr2 152527572 rs7426114 C T 1199.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.615;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7011;MQ=45.10;MQ0=0;MQRankSum=-1.740;QD=10.52;ReadPosRankSum=-0.136;SB=-840.84;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_V1491M,Missense_V1491M,Missense_V1491M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,57:114:99:1230,0,1244:0.500:99 chr2 152527608 rs34577613 C T 1241.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.552;DP=108;Dels=0.00;FS=2.508;HRun=0;HaplotypeScore=2.7474;MQ=47.73;MQ0=0;MQRankSum=0.316;QD=11.49;ReadPosRankSum=0.050;SB=-1021.77;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_V1479I,Missense_V1479I,Missense_V1479I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,61:108:99:1271,0,1028:0.565:99 chr2 152531077 rs6711382 A G 1270.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.014;DP=114;Dels=0.00;FS=2.410;HRun=0;HaplotypeScore=5.7658;MQ=46.29;MQ0=0;MQRankSum=0.060;QD=11.15;ReadPosRankSum=1.085;SB=-869.07;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_Y1301H,Missense_Y1301H,Missense_Y1301H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,58:114:99:1301,0,1211:0.509:99 chr2 152536498 rs6735208 T A 2178.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.953;DP=226;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.9356;MQ=53.64;MQ0=0;MQRankSum=-0.169;QD=9.64;ReadPosRankSum=-1.306;SB=-1242.29;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_K1027N,Missense_K1027N,Missense_K1027N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:126,98:226:99:2209,0,2892:0.438:99 chr2 152573981 rs4611637 A G 1948.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.649;DP=197;Dels=0.00;FS=1.152;HRun=1;HaplotypeScore=6.4698;MQ=53.15;MQ0=0;MQRankSum=0.941;QD=9.89;ReadPosRankSum=-0.618;SB=-1055.86;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_A257A,Synonymous_A257A,Synonymous_A257A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:116,81:197:99:1978,0,2761:0.411:99 chr2 169830328 rs2287622 A G 2058.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.409;DP=182;Dels=0.00;FS=1.856;HRun=1;HaplotypeScore=6.3592;MQ=48.91;MQ0=0;MQRankSum=-1.312;QD=11.31;ReadPosRankSum=-0.781;SB=-1708.20;TI=NM_003742;GI=ABCB11;FC=Missense_V444A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:79,103:182:99:2089,0,1523:0.566:99 chr2 169984262 . A AT 1151.32 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.784;DP=190;FS=2.630;HRun=12;HaplotypeScore=329.0575;MQ=55.08;MQ0=0;MQRankSum=0.976;QD=6.06;ReadPosRankSum=-0.348;SB=-515.42;TI=NM_004525;GI=LRP2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,64:190:99:1190,0,2017:0.374:99 chr2 169997051 rs990626 G A 852.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.077;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8936;MQ=52.81;MQ0=0;MQRankSum=1.424;QD=11.07;ReadPosRankSum=3.099;SB=-596.08;TI=NM_004525;GI=LRP2;FC=Synonymous_I4371I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,41:77:99:883,0,712:0.532:99 chr2 170003432 rs4667591 T G 2090.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.065;DP=235;Dels=0.00;FS=0.492;HRun=0;HaplotypeScore=7.1471;MQ=51.29;MQ0=0;MQRankSum=2.388;QD=8.90;ReadPosRankSum=0.819;SB=-1401.76;TI=NM_004525;GI=LRP2;FC=Missense_I4210L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:133,101:235:99:2121,0,2902:0.432:99 chr2 170010985 rs2075252 T C 2062.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.309;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.2550;MQ=51.24;MQ0=0;MQRankSum=0.070;QD=11.09;ReadPosRankSum=1.210;SB=-1429.68;TI=NM_004525;GI=LRP2;FC=Missense_K4094E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,94:186:99:2092,0,2210:0.508:99 chr2 170032989 rs2229265 C T 1323.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.778;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4054;MQ=46.86;MQ0=0;MQRankSum=-0.228;QD=12.73;ReadPosRankSum=-0.228;SB=-1024.54;TI=NM_004525;GI=LRP2;FC=Synonymous_Q3501Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,64:104:99:1353,0,807:0.621:99 chr2 170053505 rs2228171 C T 1231.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DP=105;Dels=0.00;FS=0.732;HRun=0;HaplotypeScore=3.7877;MQ=49.26;MQ0=0;MQRankSum=-0.833;QD=11.73;ReadPosRankSum=1.624;SB=-947.24;TI=NM_004525;GI=LRP2;FC=Missense_A2872T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,57:105:99:1261,0,997:0.543:99 chr2 170063263 . G A 840.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.863;DP=59;Dels=0.00;FS=3.707;HRun=1;HaplotypeScore=2.6823;MQ=51.16;MQ0=0;MQRankSum=-0.925;QD=14.24;ReadPosRankSum=0.661;SB=-506.17;TI=NM_004525;GI=LRP2;FC=Synonymous_L2323L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,36:59:99:870,0,454:0.610:99 chr2 170070348 rs11886219 T C 1408.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.001;DP=136;Dels=0.00;FS=1.381;HRun=1;HaplotypeScore=1.7882;MQ=51.27;MQ0=0;MQRankSum=1.798;QD=10.35;ReadPosRankSum=0.310;SB=-998.64;TI=NM_004525;GI=LRP2;FC=Synonymous_R1953R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,67:136:99:1438,0,1352:0.496:99 chr2 170088351 rs2302694 G A 2118.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.155;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.7172;MQ=50.49;MQ0=0;MQRankSum=-0.374;QD=9.99;ReadPosRankSum=0.746;SB=-1652.13;TI=NM_004525;GI=LRP2;FC=Unknown_1700;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,105:212:99:2149,0,2126:0.495:99 chr2 170092395 rs2229267 A G 1317.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.163;DP=143;Dels=0.00;FS=1.334;HRun=0;HaplotypeScore=6.5756;MQ=44.60;MQ0=0;MQRankSum=-1.725;QD=9.21;ReadPosRankSum=0.467;SB=-1011.78;TI=NM_004525;GI=LRP2;FC=Synonymous_C1625C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,67:143:99:1347,0,1620:0.469:99 chr2 170099473 rs831042 T C 1334.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.518;DP=140;Dels=0.00;FS=2.183;HRun=2;HaplotypeScore=3.7827;MQ=47.68;MQ0=0;MQRankSum=-1.672;QD=9.53;ReadPosRankSum=-1.324;SB=-776.90;TI=NM_004525;GI=LRP2;FC=Synonymous_A1220A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,62:140:99:1364,0,1743:0.443:99 chr2 170103336 rs831043 T C 1458.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.592;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1851;MQ=43.92;MQ0=0;MQRankSum=1.548;QD=9.53;ReadPosRankSum=3.310;SB=-1142.80;TI=NM_004525;GI=LRP2;FC=Synonymous_T1023T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:81,72:153:99:1488,0,1621:0.471:99 chr2 170103351 rs2075249 G T 1309.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.404;DP=125;Dels=0.00;FS=0.664;HRun=2;HaplotypeScore=9.5522;MQ=45.92;MQ0=0;MQRankSum=0.704;QD=10.48;ReadPosRankSum=1.994;SB=-1082.06;TI=NM_004525;GI=LRP2;FC=Synonymous_T1018T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,65:125:99:1340,0,1224:0.520:99 chr2 170115588 rs2241190 T C 2219.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.894;DP=211;Dels=0.00;FS=1.700;HRun=1;HaplotypeScore=10.2482;MQ=50.77;MQ0=0;MQRankSum=-0.997;QD=10.52;ReadPosRankSum=0.326;SB=-1421.52;TI=NM_004525;GI=LRP2;FC=Synonymous_T820T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:119,92:211:99:2250,0,2829:0.436:99 chr2 170115672 rs33954745 A G 3467.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.813;DP=313;Dels=0.00;FS=6.099;HRun=0;HaplotypeScore=22.2341;MQ=52.73;MQ0=0;MQRankSum=2.121;QD=11.08;ReadPosRankSum=0.278;SB=-1734.63;TI=NM_004525;GI=LRP2;FC=Synonymous_D792D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:164,148:313:99:3468,0,3732:0.474:99 chr2 170129528 rs830994 G A 1082.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.687;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8938;MQ=49.84;MQ0=0;MQRankSum=-0.803;QD=9.02;ReadPosRankSum=0.819;SB=-783.50;TI=NM_004525;GI=LRP2;FC=Synonymous_V675V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,53:120:99:1112,0,1419:0.442:99 chr2 170218847 rs1559014 C G 1441.31 PASS AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5310;MQ=46.95;MQ0=0;QD=24.43;SB=-946.43;TI=NM_004525;GI=LRP2;FC=Synonymous_A21A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,59:59:99:1474,105,0:1.000:99 chr2 173339808 rs11895564 G A 3400.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.388;DP=331;Dels=0.00;FS=0.397;HRun=0;HaplotypeScore=11.0412;MQ=51.92;MQ0=0;MQRankSum=1.385;QD=10.27;ReadPosRankSum=0.944;SB=-2762.32;TI=NM_001079818,NM_000210;GI=ITGA6,ITGA6;FC=Missense_A380T,Missense_A380T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:167,164:331:99:3400,0,3372:0.495:99 chr2 173369231 rs17664 A G 2395.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.455;DP=209;Dels=0.01;FS=3.129;HRun=0;HaplotypeScore=9.3073;MQ=51.56;MQ0=0;MQRankSum=0.357;QD=11.46;ReadPosRankSum=0.057;SB=-1821.19;TI=NM_001079818,NM_000210;GI=ITGA6,ITGA6;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,116:207:99:2426,0,1822:0.560:99 chr2 178404735 . T TAAAG 7423.19 PASS AC=2;AF=1.00;AN=2;DP=106;FS=0.000;HRun=0;HaplotypeScore=100.1464;MQ=53.11;MQ0=0;QD=70.03;SB=-3513.66;TI=NM_003659;GI=AGPS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,102:106:99:7423,319,0:0.981:99 chr2 178404789 rs74500978 A G 409.60 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.116;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.09;MQ0=0;MQRankSum=0.116;QD=27.31;ReadPosRankSum=-1.042;SB=-175.87;TI=NM_003659;GI=AGPS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,14:15:8.69:442,9,0:0.933:8 chr2 178406481 rs8941 C T 4443.94 PASS AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=51.26;MQ0=0;QD=26.93;SB=-3025.48;TI=NM_003659;GI=AGPS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,165:165:99:4444,316,0:1.000:99 chr2 178406769 rs5836610 A AT 3017.21 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.435;DP=116;FS=0.000;HRun=8;HaplotypeScore=119.3714;MQ=58.91;MQ0=0;MQRankSum=1.501;QD=26.01;ReadPosRankSum=-0.412;SB=-1329.42;TI=NM_003659;GI=AGPS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:19,93:116:99:3059,281,0:0.830:99 chr2 178407176 rs10803912 C A 2678.48 PASS AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53.91;MQ0=0;QD=28.49;SB=-1345.05;TI=NM_003659;GI=AGPS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,94:94:99:2711,196,0:1.000:99 chr2 178407897 rs2293475 T C 1715.38 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=47.11;MQ0=0;QD=25.60;SB=-1247.70;TI=NM_003659;GI=AGPS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:67:99:1748,123,0:1.000:99 chr2 191161622 rs1058180 T C 7025.52 PASS AC=2;AF=1.00;AN=2;DP=260;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.6292;MQ=52.12;MQ0=0;QD=27.02;SB=-4557.23;TI=NM_198047,NM_014362;GI=HIBCH,HIBCH;FC=Missense_T46A,Missense_T46A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,260:260:99:7026,500,0:1.000:99 chr2 191184475 rs291466 A G 1500.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.235;DP=178;Dels=0.00;FS=1.183;HRun=0;HaplotypeScore=5.4043;MQ=43.80;MQ0=0;MQRankSum=-2.052;QD=8.43;ReadPosRankSum=1.955;SB=-1143.24;TI=NM_198047,NM_014362;GI=HIBCH,HIBCH;FC=Missense_M1T,Missense_M1T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,78:178:99:1531,0,2077:0.441:99 chr2 191184524 rs3749022 C T 1579.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.780;DP=167;Dels=0.00;FS=2.727;HRun=0;HaplotypeScore=12.5191;MQ=44.43;MQ0=0;MQRankSum=-0.255;QD=9.46;ReadPosRankSum=0.021;SB=-1218.17;TI=NM_198047,NM_014362;GI=HIBCH,HIBCH;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:90,77:167:99:1609,0,1950:0.461:99 chr2 191840352 rs3215258 CT C 805.86 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.048;DP=221;FS=1.082;HRun=15;HaplotypeScore=621.0522;MQ=49.82;MQ0=0;MQRankSum=-0.878;QD=3.65;ReadPosRankSum=0.023;SB=-420.20;TI=NM_007315,NM_139266;GI=STAT1,STAT1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:147,52:221:99:845,0,2322:0.261:99 chr2 202050677 rs3900115 A G 800.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.079;DP=77;Dels=0.00;FS=0.896;HRun=1;HaplotypeScore=2.7855;MQ=53.23;MQ0=0;MQRankSum=1.734;QD=10.39;ReadPosRankSum=-0.394;SB=-430.87;TI=NM_001230,NM_032977,NM_032974;GI=CASP10,CASP10,CASP10;FC=Synonymous_S59S,Synonymous_S59S,Synonymous_S59S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,35:77:99:830,0,949:0.455:99 chr2 202566411 rs3219172 T C 1530.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.281;DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0975;MQ=49.07;MQ0=0;MQRankSum=1.486;QD=12.34;ReadPosRankSum=0.732;SB=-1168.90;TI=NM_020919;GI=ALS2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,72:124:99:1561,0,1024:0.581:99 chr2 202575821 rs3219168 G A 7836.61 PASS AC=2;AF=1.00;AN=2;DP=304;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0435;MQ=52.28;MQ0=0;QD=25.78;SB=-5437.19;TI=NM_020919;GI=ALS2;FC=Synonymous_L1339L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,303:304:99:7837,551,0:1.000:99 chr2 202625402 . A C 977.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.852;DP=103;Dels=0.00;FS=4.904;HRun=0;HaplotypeScore=8.2454;MQ=50.23;MQ0=0;MQRankSum=0.542;QD=9.49;ReadPosRankSum=-0.785;SB=-518.75;TI=NM_020919,NM_001135745;GI=ALS2,ALS2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,41:103:99:1007,0,1481:0.398:99 chr2 202625615 rs3219156 C T 1224.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.728;DP=86;Dels=0.00;FS=1.864;HRun=1;HaplotypeScore=7.2519;MQ=46.49;MQ0=0;MQRankSum=-0.415;QD=14.24;ReadPosRankSum=-1.863;SB=-898.94;TI=NM_020919,NM_001135745;GI=ALS2,ALS2;FC=Missense_V368M,Missense_V368M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,54:86:99:1254,0,655:0.628:99 chr2 202626437 rs3219154 T C 681.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.917;DP=63;Dels=0.00;FS=0.970;HRun=0;HaplotypeScore=0.8941;MQ=46.75;MQ0=0;MQRankSum=-0.034;QD=10.82;ReadPosRankSum=1.358;SB=-537.93;TI=NM_020919,NM_001135745;GI=ALS2,ALS2;FC=Missense_I94V,Missense_I94V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,34:63:99:711,0,639:0.540:99 chr2 207631461 rs3762568 G A 1279.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.018;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=51.00;MQ0=0;MQRankSum=0.602;QD=12.93;ReadPosRankSum=0.511;SB=-729.03;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Missense_S15N,Missense_S15N,Missense_S15N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,55:99:99:1310,0,1014:0.556:99 chr2 207657153 rs1048783 T C 935.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.250;DP=105;Dels=0.00;FS=0.758;HRun=1;HaplotypeScore=5.5730;MQ=51.68;MQ0=0;MQRankSum=1.932;QD=8.91;ReadPosRankSum=-0.205;SB=-572.21;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,44:105:99:965,0,1516:0.419:99 chr2 207658000 . A AC 735.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.020;DP=49;FS=1.094;HRun=1;HaplotypeScore=136.8105;MQ=46.09;MQ0=0;MQRankSum=0.372;QD=15.00;ReadPosRankSum=0.090;SB=-281.52;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,20:49:99:774,0,956:0.408:99 chr2 207658595 rs2193885 T A 1100.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.116;DP=84;Dels=0.00;FS=1.780;HRun=0;HaplotypeScore=3.9974;MQ=54.48;MQ0=0;MQRankSum=1.955;QD=13.11;ReadPosRankSum=0.616;SB=-650.69;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,46:84:99:1131,0,872:0.548:99 chr2 207658847 rs10655467 T TAC 462.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.559;DP=58;FS=0.000;HRun=0;HaplotypeScore=50.0265;MQ=53.32;MQ0=0;MQRankSum=0.623;QD=7.98;ReadPosRankSum=-0.748;SB=-193.51;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,16:58:99:502,0,1094:0.308:99 chr2 207659014 rs6435351 T C 1117.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.080;DP=89;Dels=0.00;FS=1.857;HRun=0;HaplotypeScore=2.6823;MQ=56.68;MQ0=0;MQRankSum=-0.365;QD=12.56;ReadPosRankSum=1.211;SB=-574.25;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,46:89:99:1148,0,1229:0.517:99 chr2 207659531 rs1001805 A G 530.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.269;DP=64;Dels=0.00;FS=3.539;HRun=0;HaplotypeScore=2.7878;MQ=56.26;MQ0=0;MQRankSum=1.417;QD=8.28;ReadPosRankSum=-0.761;SB=-307.06;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,26:64:99:560,0,858:0.413:99 chr2 207659760 rs5838044 G GT 2138.20 PASS AC=2;AF=1.00;AN=2;DP=48;FS=0.000;HRun=0;HaplotypeScore=50.0888;MQ=58.34;MQ0=0;QD=44.55;SB=-909.02;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,48:48:99:2180,144,0:1.000:99 chr2 211342472 . G A 1451.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.865;DP=167;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.6607;MQ=52.28;MQ0=0;MQRankSum=1.669;QD=8.69;ReadPosRankSum=2.490;SB=-1095.07;TI=NM_001122633;GI=CPS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:96,70:167:99:1481,0,2103:0.422:99 chr2 211421452 rs3835047 A ATCT 14838.74 PASS AC=2;AF=1.00;AN=2;DP=246;FS=0.000;HRun=0;HaplotypeScore=88.3235;MQ=59.54;MQ0=0;QD=60.32;SB=-6921.22;TI=NM_001122633,NM_001875;GI=CPS1,CPS1;FC=1AA_Insertion,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,244:246:99:14839,738,0:0.996:99 chr2 211456637 rs1047883 A G 4180.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.289;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7600;MQ=53.70;MQ0=0;MQRankSum=1.168;QD=25.65;ReadPosRankSum=2.299;SB=-2943.65;TI=NM_001122633,NM_001875;GI=CPS1,CPS1;FC=Missense_T350A,Missense_T344A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,161:163:99:4181,256,0:0.988:99 chr2 211456639 rs2229589 C T 4281.20 PASS AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53.32;MQ0=0;QD=25.79;SB=-2994.77;TI=NM_001122633,NM_001875;GI=CPS1,CPS1;FC=Synonymous_T350T,Synonymous_T344T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,165:166:99:4281,304,0:1.000:99 chr2 211481257 rs2287599 C G 3233.06 PASS AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=47.37;MQ0=0;QD=24.87;SB=-2091.63;TI=NM_001122633,NM_001875,NM_001122634;GI=CPS1,CPS1,CPS1;FC=Synonymous_G899G,Synonymous_G893G,Synonymous_G442G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,130:130:99:3268,229,0:1.000:99 chr2 211540507 rs1047891 C A 1524.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.932;DP=120;Dels=0.00;FS=0.681;HRun=1;HaplotypeScore=9.4353;MQ=51.45;MQ0=0;MQRankSum=1.911;QD=12.71;ReadPosRankSum=1.365;SB=-1005.57;TI=NM_001122633,NM_001875,NM_001122634;GI=CPS1,CPS1,CPS1;FC=Missense_T1412N,Missense_T1406N,Missense_T955N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,61:120:99:1555,0,1327:0.508:99 chr2 211543055 rs715 T C 1004.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.266;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=53.52;MQ0=0;MQRankSum=1.314;QD=10.92;ReadPosRankSum=-0.369;SB=-681.96;TI=NM_001122633,NM_001875,NM_001122634;GI=CPS1,CPS1,CPS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,45:92:99:1034,0,1054:0.495:99 chr2 211543147 rs7684 T G 1256.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.161;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=55.29;MQ0=0;MQRankSum=1.308;QD=12.44;ReadPosRankSum=-0.759;SB=-961.05;TI=NM_001122633,NM_001875,NM_001122634;GI=CPS1,CPS1,CPS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,58:101:99:1287,0,879:0.574:99 chr2 215796302 rs71399158 G GACAA 7032.53 PASS AC=2;AF=1.00;AN=2;DP=118;FS=0.000;HRun=0;HaplotypeScore=73.7522;MQ=58.76;MQ0=0;QD=59.60;SB=-2963.91;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:9,108:118:99:7033,328,0:0.923:99 chr2 215796568 rs12694349 T C 2610.15 PASS AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5532;MQ=51.52;MQ0=0;QD=24.39;SB=-1928.17;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,106:107:99:2643,184,0:1.000:99 chr2 215797332 rs17426207 C T 1348.59 PASS AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.38;MQ0=0;QD=28.69;SB=-784.22;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,47:47:99:1382,99,0:1.000:99 chr2 215820013 rs10498027 G A 5086.58 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.714;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1527;MQ=50.84;MQ0=0;MQRankSum=-0.742;QD=26.77;ReadPosRankSum=-0.064;SB=-3623.23;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Synonymous_Y1784Y,Synonymous_Y2102Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,188:190:99:5087,361,0:0.995:99 chr2 215876166 rs7560008 A T 5559.82 PASS AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6812;MQ=54.85;MQ0=0;QD=28.22;SB=-2768.07;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Missense_S459T,Missense_S777T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,195:197:99:5560,397,0:1.000:99 chr2 219646547 rs11375701 A AC 4996.61 PASS AC=2;AF=1.00;AN=2;DP=128;FS=0.000;HRun=2;HaplotypeScore=88.5205;MQ=58.79;MQ0=0;QD=39.04;SB=-2390.38;TI=NM_000784;GI=CYP27A1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,124:128:99:4997,373,0:0.976:99 chr2 219940484 rs359960 C T 1437.39 PASS AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=56.76;MQ0=0;QD=24.36;SB=-1048.09;TI=NM_024782;GI=NHEJ1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,59:59:99:1470,105,0:1.000:99 chr2 219941063 rs897477 G A 915.45 PASS AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=51.33;MQ0=0;QD=24.74;SB=-683.90;TI=NM_024782;GI=NHEJ1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,37:37:66.22:948,66,0:1.000:66 chr2 227867719 rs1054413 G A 996.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.244;DP=131;Dels=0.00;FS=0.665;HRun=1;HaplotypeScore=2.6823;MQ=50.61;MQ0=0;MQRankSum=0.296;QD=7.61;ReadPosRankSum=-1.921;SB=-734.19;TI=NM_000092;GI=COL4A4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:81,50:131:99:1027,0,2018:0.382:99 chr2 227868854 rs56324594 C T 569.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.247;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6563;MQ=49.38;MQ0=0;MQRankSum=-1.876;QD=9.99;ReadPosRankSum=-0.120;SB=-444.27;TI=NM_000092;GI=COL4A4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,29:57:99:600,0,569:0.509:99 chr2 227869920 rs77029370 GT G 812.67 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.672;DP=65;FS=2.517;HRun=12;HaplotypeScore=120.8876;MQ=51.86;MQ0=0;MQRankSum=1.083;QD=12.50;ReadPosRankSum=-0.262;SB=-267.33;TI=NM_000092;GI=COL4A4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,35:65:99:852,0,404:0.583:99 chr2 227871266 rs79881506 A AT 1975.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=152;FS=0.610;HRun=8;HaplotypeScore=77.8840;MQ=58.14;MQ0=0;MQRankSum=2.569;QD=13.00;ReadPosRankSum=-1.899;SB=-963.22;TI=NM_000092;GI=COL4A4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,79:152:99:2014,0,1693:0.530:99 chr2 227871474 rs34486270 AT A 1983.70 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.828;DP=145;FS=1.399;HRun=11;HaplotypeScore=190.6972;MQ=53.36;MQ0=0;MQRankSum=1.670;QD=13.68;ReadPosRankSum=0.517;SB=-723.52;TI=NM_000092;GI=COL4A4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,83:145:99:2023,0,1147:0.589:99 chr2 227872182 rs2228557 G A 573.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.510;DP=93;Dels=0.00;FS=0.828;HRun=5;HaplotypeScore=1.8773;MQ=51.33;MQ0=0;MQRankSum=-1.184;QD=6.17;ReadPosRankSum=-0.767;SB=-512.36;TI=NM_000092;GI=COL4A4;FC=Synonymous_F1644F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,33:93:99:603,0,1301:0.355:99 chr2 227872995 rs2228555 T C 377.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.312;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=47.19;MQ0=0;MQRankSum=-0.024;QD=13.47;ReadPosRankSum=1.558;SB=-284.29;TI=NM_000092;GI=COL4A4;FC=Synonymous_V1516V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,18:28:99:407,0,239:0.643:99 chr2 227886773 rs3752895 A G 1235.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.324;DP=125;Dels=0.00;FS=0.679;HRun=4;HaplotypeScore=3.7749;MQ=49.89;MQ0=0;MQRankSum=0.393;QD=9.88;ReadPosRankSum=-0.175;SB=-945.37;TI=NM_000092;GI=COL4A4;FC=Missense_S1403P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,61:125:99:1265,0,1424:0.488:99 chr2 227892619 rs3817490 C T 1814.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.148;DP=185;Dels=0.00;FS=1.151;HRun=0;HaplotypeScore=10.1247;MQ=52.79;MQ0=0;MQRankSum=1.275;QD=9.81;ReadPosRankSum=-0.831;SB=-1316.15;TI=NM_000092;GI=COL4A4;FC=Synonymous_P1360P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:101,84:185:99:1845,0,2426:0.454:99 chr2 227892720 rs2229813 C T 3472.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.496;DP=315;Dels=0.00;FS=0.872;HRun=1;HaplotypeScore=47.6367;MQ=50.90;MQ0=0;MQRankSum=2.542;QD=11.02;ReadPosRankSum=0.050;SB=-2146.21;TI=NM_000092;GI=COL4A4;FC=Missense_V1327M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:160,155:315:99:3472,0,3378:0.492:99 chr2 227896886 rs2229812 C T 445.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.354;DP=35;Dels=0.00;FS=1.317;HRun=3;HaplotypeScore=4.6270;MQ=55.45;MQ0=0;MQRankSum=-0.320;QD=12.72;ReadPosRankSum=0.084;SB=-345.21;TI=NM_000092;GI=COL4A4;FC=Synonymous_K1228K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,21:35:99:475,0,352:0.600:99 chr2 227896976 rs10203363 C T 528.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.603;DP=67;Dels=0.00;FS=0.968;HRun=0;HaplotypeScore=1.8835;MQ=48.58;MQ0=0;MQRankSum=-0.499;QD=7.89;ReadPosRankSum=-1.277;SB=-370.72;TI=NM_000092;GI=COL4A4;FC=Synonymous_G1198G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,25:67:99:559,0,881:0.373:99 chr2 227915832 rs1800517 G A 873.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.836;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7664;MQ=52.52;MQ0=0;MQRankSum=-0.700;QD=10.04;ReadPosRankSum=-0.098;SB=-680.63;TI=NM_000092;GI=COL4A4;FC=Missense_P1004L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,44:87:99:903,0,936:0.506:99 chr2 227942764 . A G 1328.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.754;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8932;MQ=49.45;MQ0=0;MQRankSum=0.632;QD=10.54;ReadPosRankSum=-0.276;SB=-983.40;TI=NM_000092;GI=COL4A4;FC=Synonymous_G611G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,62:126:99:1358,0,1273:0.492:99 chr2 227954599 rs2229814 G A 2838.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.125;DP=261;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.1634;MQ=50.10;MQ0=0;MQRankSum=0.584;QD=10.88;ReadPosRankSum=-0.004;SB=-2140.02;TI=NM_000092;GI=COL4A4;FC=Missense_P482S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:119,142:261:99:2868,0,2416:0.544:99 chr2 228111435 rs10178458 T C 1131.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.227;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2586;MQ=48.23;MQ0=0;MQRankSum=-0.249;QD=9.67;ReadPosRankSum=-0.008;SB=-757.60;TI=NM_000091;GI=COL4A3;FC=Missense_L141P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,54:117:99:1162,0,1369:0.462:99 chr2 228113175 rs6436669 A G 1570.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.633;DP=152;Dels=0.00;FS=5.207;HRun=1;HaplotypeScore=10.9337;MQ=53.82;MQ0=0;MQRankSum=-1.193;QD=10.33;ReadPosRankSum=-0.558;SB=-865.88;TI=NM_000091;GI=COL4A3;FC=Missense_E162G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,65:152:99:1601,0,2274:0.430:99 chr2 228128540 rs10205042 C T 2201.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.525;DP=174;Dels=0.00;FS=2.895;HRun=1;HaplotypeScore=11.7917;MQ=51.18;MQ0=0;MQRankSum=0.805;QD=12.65;ReadPosRankSum=0.080;SB=-836.19;TI=NM_000091;GI=COL4A3;FC=Synonymous_L399L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,88:174:99:2232,0,2011:0.506:99 chr2 228135631 rs28381984 C T 1645.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.664;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4297;MQ=49.61;MQ0=0;MQRankSum=-2.791;QD=11.12;ReadPosRankSum=-2.053;SB=-1297.31;TI=NM_000091;GI=COL4A3;FC=Missense_P574L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,80:148:99:1675,0,1385:0.541:99 chr2 228157954 . G A 1622.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.704;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1219;MQ=50.19;MQ0=0;MQRankSum=1.695;QD=9.38;ReadPosRankSum=2.528;SB=-848.03;TI=NM_000091;GI=COL4A3;FC=Synonymous_G1086G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:100,73:173:99:1653,0,2414:0.422:99 chr2 228176872 rs6436677 C T 930.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.932;DP=77;Dels=0.00;FS=4.383;HRun=0;HaplotypeScore=1.7882;MQ=52.81;MQ0=0;MQRankSum=0.749;QD=12.08;ReadPosRankSum=-0.423;SB=-522.08;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,38:77:99:960,0,1005:0.494:99 chr2 228176901 rs2070735 A C 1039.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.176;DP=98;Dels=0.00;FS=3.831;HRun=0;HaplotypeScore=0.0000;MQ=52.30;MQ0=0;MQRankSum=-0.323;QD=10.60;ReadPosRankSum=0.423;SB=-729.07;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,48:98:99:1069,0,1098:0.490:99 chr2 228177479 rs7587228 C T 1209.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.229;DP=104;Dels=0.00;FS=1.619;HRun=1;HaplotypeScore=2.6823;MQ=45.99;MQ0=0;MQRankSum=-1.400;QD=11.63;ReadPosRankSum=-0.881;SB=-957.57;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,58:104:99:1240,0,1003:0.563:99 chr2 228177642 . TA T 411.87 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.148;DP=104;FS=2.848;HRun=14;HaplotypeScore=235.2671;MQ=52.50;MQ0=0;MQRankSum=0.012;QD=3.96;ReadPosRankSum=-0.758;SB=-177.08;TI=NM_000091;GI=COL4A3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,23:104:99:451,0,948:0.284:99 chr2 228177751 rs28554165 G A 497.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.974;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=49.88;MQ0=0;MQRankSum=2.385;QD=8.29;ReadPosRankSum=0.207;SB=-222.57;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,22:60:99:528,0,924:0.367:99 chr2 228177825 rs10188531 C G 2274.79 PASS AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.61;MQ0=0;QD=25.56;SB=-1589.46;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,89:89:99:2308,163,0:1.000:99 chr2 228178645 rs4290648 C G 1079.19 PASS AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.57;MQ0=0;QD=25.10;SB=-748.63;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,43:43:78.26:1112,78,0:1.000:78 chr2 228178780 rs7567291 A C 1771.76 PASS AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=45.63;MQ0=0;QD=24.61;SB=-1278.32;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,72:72:99:1805,126,0:1.000:99 chr2 231042276 rs1135791 A G 2147.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.293;DP=176;Dels=0.00;FS=1.205;HRun=0;HaplotypeScore=5.5830;MQ=48.75;MQ0=0;MQRankSum=-2.806;QD=12.20;ReadPosRankSum=-2.995;SB=-1609.32;TI=NM_004509,NM_080424,NM_004510,NM_001185015;GI=SP110,SP110,SP110,SP110;FC=Missense_M523T,Missense_M523T,Missense_M523T,Missense_M529T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,101:176:99:2178,0,1584:0.574:99 chr2 231050715 rs3948464 A G 2710.19 PASS AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5721;MQ=50.18;MQ0=0;QD=23.98;SB=-1876.69;TI=NM_004509,NM_080424,NM_004510,NM_001185015;GI=SP110,SP110,SP110,SP110;FC=Missense_L425S,Missense_L425S,Missense_L425S,Missense_L431S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,112:113:99:2743,193,0:1.000:99 chr2 231072709 rs1365776 C T 4319.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.435;DP=416;Dels=0.00;FS=0.369;HRun=1;HaplotypeScore=13.0353;MQ=53.35;MQ0=0;MQRankSum=1.717;QD=10.38;ReadPosRankSum=0.029;SB=-2311.72;TI=NM_004509,NM_080424,NM_004510,NM_001185015;GI=SP110,SP110,SP110,SP110;FC=Missense_G299R,Missense_G299R,Missense_G299R,Missense_G305R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:224,190:416:99:4319,0,5316:0.459:99 chr2 231077110 rs9061 C T 1495.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.264;DP=129;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8580;MQ=46.99;MQ0=0;MQRankSum=-2.122;QD=11.59;ReadPosRankSum=0.676;SB=-1130.98;TI=NM_004509,NM_080424,NM_004510,NM_001185015;GI=SP110,SP110,SP110,SP110;FC=Missense_E207K,Missense_E207K,Missense_E207K,Missense_E213K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,72:129:99:1525,0,1077:0.558:99 chr2 231077676 rs11556887 G A 392.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.964;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.6509;MQ=45.09;MQ0=0;MQRankSum=0.036;QD=6.22;ReadPosRankSum=1.178;SB=-344.17;TI=NM_004509,NM_080424,NM_004510,NM_001185015;GI=SP110,SP110,SP110,SP110;FC=Missense_A128V,Missense_A128V,Missense_A128V,Missense_A134V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,23:63:99:422,0,865:0.365:99 chr2 231077725 rs1129411 A G 2385.25 PASS AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=43.40;MQ0=0;QD=23.16;SB=-1966.54;TI=NM_004509,NM_080424,NM_004510,NM_001185015;GI=SP110,SP110,SP110,SP110;FC=Missense_W112R,Missense_W112R,Missense_W112R,Missense_W118R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,103:103:99:2418,166,0:1.000:99 chr2 233390937 rs2245601 A G 395.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.549;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=44.06;MQ0=0;MQRankSum=-0.831;QD=10.14;ReadPosRankSum=0.578;SB=-341.95;TI=NM_000751;GI=CHRND;FC=Synonymous_P4P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,21:39:99:425,0,343:0.538:99 chr2 233400074 rs2767 A G 288.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.720;DP=43;Dels=0.00;FS=2.793;HRun=1;HaplotypeScore=0.0000;MQ=44.04;MQ0=0;MQRankSum=-1.287;QD=6.70;ReadPosRankSum=2.459;SB=-173.20;TI=NM_000751;GI=CHRND;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,15:43:99:318,0,591:0.349:99 chr2 233410294 rs2099489 C T 425.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.816;DP=50;Dels=0.00;FS=1.093;HRun=0;HaplotypeScore=9.4793;MQ=45.03;MQ0=0;MQRankSum=-1.388;QD=8.52;ReadPosRankSum=0.534;SB=-395.46;TI=NM_005199;GI=CHRNG;FC=Synonymous_R474R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,24:50:99:456,0,555:0.480:99 chr2 233410922 rs72991937 A G 266.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.982;DP=29;Dels=0.00;FS=6.805;HRun=0;HaplotypeScore=0.9983;MQ=42.24;MQ0=0;MQRankSum=0.589;QD=9.19;ReadPosRankSum=1.287;SB=-215.17;TI=NM_005199;GI=CHRNG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,14:29:99:297,0,393:0.483:99 chr2 233410994 rs72991939 C T 206.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.804;DP=26;Dels=0.00;FS=3.949;HRun=0;HaplotypeScore=13.9522;MQ=38.06;MQ0=0;MQRankSum=0.638;QD=7.92;ReadPosRankSum=-1.636;SB=-133.31;TI=NM_005199;GI=CHRNG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,10:26:99:236,0,385:0.400:99 chr2 233411039 . A T 54.81 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.457;DP=15;Dels=0.00;FS=24.362;HRun=20;HaplotypeScore=2.6904;MQ=35.27;MQ0=0;MQRankSum=1.110;QD=3.65;ReadPosRankSum=-2.024;SB=0.11 GT:AD:DP:GQ:PL:VF:GQX 0/1:11,4:15:84.81:85,0,323:0.267:54 chr2 238243464 rs2270669 C G 1418.96 PASS AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1826;MQ=46.00;MQ0=0;QD=22.89;SB=-1147.38;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Missense_A3012P,Missense_A2405P,Missense_A2806P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,62:62:99:1452,99,0:1.000:99 chr2 238244781 rs11690358 T C 334.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.238;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=45.57;MQ0=0;MQRankSum=-0.083;QD=9.57;ReadPosRankSum=1.700;SB=-273.82;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Missense_M2988V,Missense_M2381V,Missense_M2782V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,17:35:99:365,0,410:0.486:99 chr2 238244863 rs35879189 TGCA T 1215.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.224;DP=71;FS=0.000;HRun=0;HaplotypeScore=147.6602;MQ=47.88;MQ0=0;MQRankSum=-2.319;QD=17.12;ReadPosRankSum=-0.251;SB=-565.08;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=1AA_Deletion,1AA_Deletion,1AA_Deletion;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,26:71:99:1255,0,2036:0.366:99 chr2 238244923 rs11683438 C T 492.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.043;DP=62;Dels=0.00;FS=0.988;HRun=0;HaplotypeScore=2.8661;MQ=52.83;MQ0=0;MQRankSum=-1.507;QD=7.95;ReadPosRankSum=0.100;SB=-320.72;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Synonymous_T2940T,Synonymous_T2333T,Synonymous_T2734T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,25:62:99:523,0,870:0.403:99 chr2 238244963 rs6728818 A G 707.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.919;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7602;MQ=54.02;MQ0=0;MQRankSum=0.570;QD=9.83;ReadPosRankSum=-0.626;SB=-488.47;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Missense_M2927T,Missense_M2320T,Missense_M2721T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,34:72:99:737,0,827:0.472:99 chr2 238247734 rs36104025 C G 475.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.614;DP=83;Dels=0.00;FS=0.947;HRun=0;HaplotypeScore=3.6689;MQ=52.79;MQ0=0;MQRankSum=2.677;QD=5.73;ReadPosRankSum=-0.521;SB=-244.65;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Missense_D2831H,Missense_D2224H,Missense_D2625H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,22:83:99:506,0,1365:0.265:99 chr2 238249108 rs61729844 T C 2130.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.373;DP=186;Dels=0.00;FS=1.164;HRun=0;HaplotypeScore=12.1592;MQ=48.31;MQ0=1;MQRankSum=-1.946;QD=11.45;ReadPosRankSum=0.095;SB=-1271.24;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Synonymous_P2817P,Synonymous_P2210P,Synonymous_P2611P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,99:186:99:2160,0,1798:0.532:99 chr2 238249717 rs34558385 G A 704.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.252;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=44.77;MQ0=0;MQRankSum=0.706;QD=8.10;ReadPosRankSum=-0.971;SB=-590.51;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Synonymous_S2614S,Synonymous_S2007S,Synonymous_S2408S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,38:87:99:735,0,965:0.437:99 chr2 238253065 rs2291795 C T 983.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.007;DP=127;Dels=0.00;FS=4.447;HRun=2;HaplotypeScore=9.1994;MQ=48.74;MQ0=0;MQRankSum=0.552;QD=7.74;ReadPosRankSum=1.875;SB=-620.56;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Synonymous_K2532K,Synonymous_K1925K,Synonymous_K2326K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,49:127:99:1014,0,1634:0.386:99 chr2 238258814 rs3790993 C G 721.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.086;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0154;MQ=43.50;MQ0=0;MQRankSum=-1.315;QD=9.01;ReadPosRankSum=-1.277;SB=-604.95;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Synonymous_G2285G,Synonymous_G1678G,Synonymous_G2079G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,38:80:99:751,0,896:0.475:99 chr2 238296769 rs79606264 G A 3687.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.529;DP=327;Dels=0.00;FS=0.846;HRun=1;HaplotypeScore=23.2150;MQ=50.16;MQ0=0;MQRankSum=-1.358;QD=11.28;ReadPosRankSum=-0.670;SB=-2854.40;TI=NM_004369,NM_057166,NM_057167,NM_057165,NM_057164;GI=COL6A3,COL6A3,COL6A3,COL6A3,COL6A3;FC=Synonymous_V256V,Silent,Synonymous_V50V,Synonymous_V50V,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:148,178:327:99:3687,0,3066:0.546:99 chr3 14186757 rs1126547 C G 4418.10 PASS AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1525;MQ=54.16;MQ0=0;QD=27.27;SB=-2950.87;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,162:162:99:4418,316,0:1.000:99 chr3 14187449 rs2228001 G T 57.65 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DP=9;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=57.39;MQ0=0;MQRankSum=0.248;QD=6.41;ReadPosRankSum=0.248;SB=-0.01;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Missense_Q939K,Missense_Q902K,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,3:9:87.65:88,0,197:0.333:57 chr3 14193889 rs2227998 C T 899.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.674;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=47.46;MQ0=0;MQRankSum=0.899;QD=11.24;ReadPosRankSum=0.782;SB=-707.06;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Synonymous_R687R,Synonymous_R650R,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,47:80:99:929,0,629:0.588:99 chr3 14197987 rs2958057 A T 2495.76 PASS AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.6717;MQ=47.74;MQ0=0;QD=24.23;SB=-1974.22;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Synonymous_A627A,Synonymous_A590A,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,103:103:99:2529,175,0:1.000:99 chr3 14220095 rs2607775 C G 2228.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.425;DP=255;Dels=0.00;FS=0.986;HRun=1;HaplotypeScore=22.0960;MQ=50.26;MQ0=0;MQRankSum=0.594;QD=8.74;ReadPosRankSum=1.113;SB=-1559.50;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:147,108:255:99:2258,0,3042:0.424:99 chr3 33055688 rs73826339 T C 147.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.220;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.10;MQ0=0;MQRankSum=1.102;QD=6.42;ReadPosRankSum=2.110;SB=-122.52;TI=NM_001079811,NM_000404,NM_001135602;GI=GLB1,GLB1,GLB1;FC=Missense_S502G,Missense_S532G,Missense_S401G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,9:23:99:178,0,334:0.391:99 chr3 33055721 rs4302331 A G 1366.08 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.447;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.50;MQ0=0;MQRankSum=-1.640;QD=21.35;ReadPosRankSum=1.949;SB=-1098.38;TI=NM_001079811,NM_000404,NM_001135602;GI=GLB1,GLB1,GLB1;FC=Missense_C491R,Missense_C521R,Missense_C390R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,62:64:57.57:1399,58,0:0.969:57 chr3 33138544 rs7614776 A G 6224.81 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.692;DP=261;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.7303;MQ=48.65;MQ0=0;MQRankSum=-0.591;QD=23.85;ReadPosRankSum=-0.776;SB=-4962.60;TI=NM_000404,NM_001135602;GI=GLB1,GLB1;FC=Synonymous_L12L,Synonymous_L12L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,260:261:99:6225,430,0:0.996:99 chr3 33138549 rs7637099 G A 3048.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.935;DP=266;Dels=0.00;FS=1.493;HRun=1;HaplotypeScore=12.9410;MQ=48.61;MQ0=0;MQRankSum=0.639;QD=11.46;ReadPosRankSum=0.160;SB=-2357.59;TI=NM_000404,NM_001135602;GI=GLB1,GLB1;FC=Missense_P10L,Missense_P10L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:121,145:266:99:3078,0,2358:0.545:99 chr3 33155782 rs11558338 G A 735.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.556;DP=77;Dels=0.00;FS=0.848;HRun=0;HaplotypeScore=1.8100;MQ=45.12;MQ0=0;MQRankSum=-2.098;QD=9.55;ReadPosRankSum=-2.016;SB=-545.98;TI=NM_006371;GI=CRTAP;FC=Synonymous_L71L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,36:77:99:765,0,850:0.468:99 chr3 33161898 rs4076086 C T 1065.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.594;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50.25;MQ0=0;MQRankSum=0.388;QD=11.09;ReadPosRankSum=-1.612;SB=-707.45;TI=NM_006371;GI=CRTAP;FC=Synonymous_D178D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,47:96:99:1095,0,1124:0.490:99 chr3 33174156 rs1135127 T G 571.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.169;DP=88;Dels=0.00;FS=1.805;HRun=0;HaplotypeScore=7.3560;MQ=44.26;MQ0=0;MQRankSum=-0.976;QD=6.50;ReadPosRankSum=-0.672;SB=-456.02;TI=NM_006371;GI=CRTAP;FC=Synonymous_T344T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,32:88:99:602,0,1256:0.364:99 chr3 33174168 rs1135128 G A 572.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.033;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1471;MQ=45.41;MQ0=0;MQRankSum=-0.915;QD=6.90;ReadPosRankSum=-0.289;SB=-461.41;TI=NM_006371;GI=CRTAP;FC=Synonymous_S348S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,30:83:99:603,0,1134:0.361:99 chr3 33185407 rs4678475 G A 216.85 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.184;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7825;MQ=46.51;MQ0=0;MQRankSum=2.245;QD=11.41;ReadPosRankSum=-1.592;SB=-122.75;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,9:19:99:247,0,211:0.474:99 chr3 33185798 rs4678476 T A 2211.02 PASS AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8888;MQ=53.63;MQ0=0;QD=26.01;SB=-1486.22;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,85:85:99:2244,160,0:1.000:99 chr3 33186356 rs1127898 T C 469.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.158;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7802;MQ=48.82;MQ0=0;MQRankSum=0.582;QD=6.10;ReadPosRankSum=0.441;SB=-350.90;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,25:77:99:499,0,1167:0.325:99 chr3 33187425 rs1132392 G A 260.24 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.244;DP=17;Dels=0.00;FS=3.140;HRun=0;HaplotypeScore=0.0000;MQ=55.80;MQ0=0;MQRankSum=-1.610;QD=15.31;ReadPosRankSum=-0.244;SB=-74.09;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,10:17:99:290,0,227:0.588:99 chr3 33187520 . T TA 118.26 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.145;DP=95;FS=0.000;HRun=12;HaplotypeScore=144.6642;MQ=50.73;MQ0=0;MQRankSum=1.994;QD=1.24;ReadPosRankSum=-0.779;SB=-41.03;TI=NM_006371;GI=CRTAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,16:95:99:157,0,1605:0.188:99 chr3 33187831 rs4678478 C T 171.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.669;DP=21;Dels=0.00;FS=1.740;HRun=1;HaplotypeScore=0.0000;MQ=45.96;MQ0=0;MQRankSum=1.584;QD=8.18;ReadPosRankSum=0.106;SB=-95.90;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,10:21:99:202,0,228:0.476:99 chr3 33188384 rs72155210 TA T 148.99 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.615;DP=63;FS=0.000;HRun=13;HaplotypeScore=126.7228;MQ=55.60;MQ0=0;MQRankSum=0.093;QD=2.36;ReadPosRankSum=0.126;SB=-53.30;TI=NM_006371;GI=CRTAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,14:63:99:188,0,970:0.230:99 chr3 38184021 rs7744 A G 657.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.866;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50.52;MQ0=0;MQRankSum=0.595;QD=9.26;ReadPosRankSum=-0.757;SB=-461.04;TI=NM_001172567,NM_001172568,NM_002468,NM_001172566,NM_001172569;GI=MYD88,MYD88,MYD88,MYD88,MYD88;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,32:71:99:687,0,890:0.451:99 chr3 46944274 rs1138518 T C 476.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.994;DP=51;Dels=0.00;FS=1.082;HRun=0;HaplotypeScore=3.6495;MQ=46.91;MQ0=0;MQRankSum=-0.388;QD=9.35;ReadPosRankSum=-0.729;SB=-326.92;TI=NM_000316,NM_001184744;GI=PTH1R,PTH1R;FC=Synonymous_N463N,Synonymous_N463N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,23:51:99:507,0,621:0.451:99 chr3 48508585 rs11797 C T 551.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.615;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=41.46;MQ0=0;MQRankSum=-0.407;QD=10.81;ReadPosRankSum=1.088;SB=-457.43;TI=NM_033629,NM_016381;GI=TREX1,TREX1;FC=Synonymous_Y177Y,Synonymous_Y232Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,28:51:99:581,0,452:0.549:99 chr3 48601531 . C A 17.48 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-0.556;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=49.40;MQ0=0;MQRankSum=0.037;QD=0.70;ReadPosRankSum=1.890;SB=-38.52;TI=NM_000094;GI=COL7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,4:25:47.40:47,0,473:0.160:17 chr3 48602866 . C T 344.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.957;DP=37;Dels=0.00;FS=1.320;HRun=0;HaplotypeScore=2.9969;MQ=50.15;MQ0=0;MQRankSum=0.228;QD=9.31;ReadPosRankSum=-0.805;SB=-233.81;TI=NM_000094;GI=COL7A1;FC=Missense_R2835H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,18:37:99:374,0,376:0.486:99 chr3 48625266 rs1264194 T C 793.27 PASS AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8731;MQ=40.53;MQ0=0;QD=20.88;SB=-680.28;TI=NM_000094;GI=COL7A1;FC=Synonymous_P939P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,38:38:57.18:826,57,0:1.000:57 chr3 49161660 rs34290943 T C 1577.23 PASS AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=46.61;MQ0=0;QD=23.90;SB=-1222.25;TI=NM_002292;GI=LAMB2;FC=Synonymous_Q1129Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,66:66:99:1610,111,0:1.000:99 chr3 49162284 rs34759087 C T 1414.82 PASS AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=43.89;MQ0=0;QD=23.58;SB=-1134.28;TI=NM_002292;GI=LAMB2;FC=Missense_E987K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,60:60:99:1448,99,0:1.000:99 chr3 49454277 rs10640 G A 2504.51 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.669;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=42.89;MQ0=0;MQRankSum=0.938;QD=22.98;ReadPosRankSum=0.238;SB=-1888.51;TI=NM_001164710,NM_000481,NR_028435,NM_001164711,NM_001164712;GI=AMT,AMT,AMT,AMT,AMT;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,108:109:99:2538,178,0:0.991:99 chr3 49455330 rs11715915 C T 2355.88 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.047;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.5468;MQ=42.43;MQ0=0;MQRankSum=1.691;QD=22.02;ReadPosRankSum=1.622;SB=-1735.95;TI=NM_001164710,NM_000481,NR_028435,NM_001164711,NM_001164712;GI=AMT,AMT,AMT,AMT,AMT;FC=Synonymous_R274R,Synonymous_R318R,Silent,Synonymous_R262R,Synonymous_R318R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,105:107:99:2389,127,0:0.981:99 chr3 53122924 . G A 35.63 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=17.81;SB=-0.01;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr3 53122927 . C A 27.89 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=13.94;SB=-0.01;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.01:59,6,0:1.000:6 chr3 53122935 . A G 29.86 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=14.93;SB=-0.01;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.01:61,6,0:1.000:6 chr3 53123032 rs2099162 C T 47.20 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.60;SB=-0.01;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:78,6,0:1.000:6 chr3 53123273 rs891368 A G 218.61 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.63;MQ0=0;QD=27.33;SB=-69.30;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,8:8:18.06:251,18,0:1.000:18 chr3 53123486 rs1078968 G A 1211.36 PASS AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50.06;MQ0=0;QD=23.75;SB=-852.32;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,51:51:87.29:1244,87,0:1.000:87 chr3 53125469 rs2564922 G A 4004.65 PASS AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=53.96;MQ0=0;QD=29.02;SB=-2434.22;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,138:138:99:4005,292,0:1.000:99 chr3 53125585 rs2564921 T C 4201.03 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.585;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8888;MQ=50.06;MQ0=0;MQRankSum=0.409;QD=25.46;ReadPosRankSum=-0.073;SB=-3080.51;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,164:165:99:4201,272,0:0.994:99 chr3 53125922 rs11242 T C 539.43 PASS AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=55.16;MQ0=0;QD=22.48;SB=-440.19;TI=NM_052859;GI=RFT1;FC=Synonymous_T541T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,24:24:39.13:572,39,0:1.000:39 chr3 81539382 rs846 C T 2749.83 PASS AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7829;MQ=52.60;MQ0=0;QD=26.19;SB=-1792.76;TI=NM_000158;GI=GBE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,105:105:99:2783,196,0:1.000:99 chr3 81643167 rs2172397 T C 9900.92 PASS AC=2;AF=1.00;AN=2;DP=409;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4602;MQ=54.25;MQ0=0;QD=24.21;SB=-7543.97;TI=NM_000158;GI=GBE1;FC=Missense_I334V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,407:409:99:9901,683,0:1.000:99 chr3 81810702 rs11391701 A AG 1779.20 PASS AC=2;AF=1.00;AN=2;DP=48;FS=0.000;HRun=2;HaplotypeScore=89.1254;MQ=59.10;MQ0=0;QD=37.07;SB=-772.53;TI=NM_000158;GI=GBE1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,44:48:99:1821,135,0:0.957:99 chr3 87308831 rs6792500 C T 8623.83 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.720;DP=277;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0626;MQ=55.52;MQ0=0;MQRankSum=-0.619;QD=31.13;ReadPosRankSum=-0.919;SB=-2602.12;TI=NM_001122757,NM_000306;GI=POU1F1,POU1F1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,276:277:99:8624,632,0:0.996:99 chr3 87308904 rs33936108 T A 9646.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.906;DP=374;Dels=0.00;FS=2.755;HRun=8;HaplotypeScore=30.2633;MQ=57.94;MQ0=0;MQRankSum=-0.373;QD=25.79;ReadPosRankSum=0.563;SB=-5468.41;TI=NM_001122757,NM_000306;GI=POU1F1,POU1F1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:11,362:374:99:9647,435,0:0.971:99 chr3 121488995 rs1135750 C G 644.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.387;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=53.09;MQ0=0;MQRankSum=1.234;QD=9.62;ReadPosRankSum=-0.058;SB=-362.65;TI=NM_001023570,NM_001023571;GI=IQCB1,IQCB1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,27:67:99:675,0,1011:0.403:99 chr3 121500699 rs17849995 C T 3136.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.288;DP=303;Dels=0.00;FS=0.870;HRun=0;HaplotypeScore=13.6048;MQ=53.15;MQ0=0;MQRankSum=1.676;QD=10.35;ReadPosRankSum=-1.746;SB=-2483.88;TI=NM_001023570,NM_001023571;GI=IQCB1,IQCB1;FC=Missense_C434Y,Missense_C301Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:151,151:303:99:3166,0,3222:0.500:99 chr3 121526204 rs4543051 G A 4015.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.754;DP=346;Dels=0.00;FS=1.276;HRun=1;HaplotypeScore=7.5617;MQ=51.50;MQ0=0;MQRankSum=-0.171;QD=11.61;ReadPosRankSum=2.242;SB=-2613.65;TI=NM_001023570,NM_001023571;GI=IQCB1,IQCB1;FC=Synonymous_L192L,Synonymous_L192L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:169,175:346:99:4015,0,3637:0.509:99 chr3 121553852 rs72421117 GCTCCCA G 3583.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.485;DP=129;FS=1.503;HRun=0;HaplotypeScore=52.6094;MQ=48.39;MQ0=0;MQRankSum=-0.446;QD=27.78;ReadPosRankSum=1.459;SB=-1657.33;TI=NM_001023570,NM_001023571;GI=IQCB1,IQCB1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,44:129:99:3584,0,6840:0.346:99 chr3 128598469 rs62783861 CGT C 796.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.329;DP=61;FS=1.042;HRun=0;HaplotypeScore=31.7742;MQ=44.93;MQ0=0;MQRankSum=-0.056;QD=13.06;ReadPosRankSum=-0.873;SB=-334.95;TI=NR_033426,NM_014049;GI=ACAD9,ACAD9;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,22:61:99:835,0,1478:0.361:99 chr3 128614185 rs1680778 A C 330.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.675;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6655;MQ=43.08;MQ0=0;MQRankSum=-0.617;QD=8.70;ReadPosRankSum=0.763;SB=-268.14;TI=NR_033426,NM_014049;GI=ACAD9,ACAD9;FC=Silent,Synonymous_R127R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,17:38:99:361,0,444:0.447:99 chr3 128627933 rs876755 C T 647.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.333;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.23;MQ0=0;MQRankSum=-1.028;QD=9.25;ReadPosRankSum=0.076;SB=-571.40;TI=NR_033426,NM_014049;GI=ACAD9,ACAD9;FC=Silent,Synonymous_P492P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,34:70:99:678,0,754:0.486:99 chr3 132400102 . CTTT C 555.55 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.611;DP=87;FS=3.666;HRun=23;HaplotypeScore=474.0395;MQ=40.02;MQ0=1;MQRankSum=1.165;QD=6.39;ReadPosRankSum=1.241;SB=-295.01;TI=NM_153240;GI=NPHP3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,6:86:99:594,0,718:0.111:99 chr3 132400284 . G T 371.74 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.394;DP=62;Dels=0.00;FS=42.335;HRun=9;HaplotypeScore=8.6262;MQ=48.60;MQ0=0;MQRankSum=-5.622;QD=6.00;ReadPosRankSum=-5.639;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,16:62:99:402,0,1033:0.258:99 chr3 132400286 . A T 365.05 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.123;DP=61;Dels=0.00;FS=38.261;HRun=5;HaplotypeScore=7.6865;MQ=48.39;MQ0=0;MQRankSum=-5.648;QD=5.98;ReadPosRankSum=-5.304;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,16:61:99:395,0,995:0.262:99 chr3 132400292 . A T 250.83 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.631;DP=62;Dels=0.05;FS=32.452;HRun=5;HaplotypeScore=10.3687;MQ=48.60;MQ0=0;MQRankSum=-5.057;QD=4.05;ReadPosRankSum=-2.478;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,13:59:99:281,0,1081:0.220:99 chr3 132400293 . G T 274.60 SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.112;DP=62;Dels=0.05;FS=34.894;HRun=1;HaplotypeScore=10.3687;MQ=48.60;MQ0=0;MQRankSum=-5.130;QD=4.43;ReadPosRankSum=-1.472;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,13:59:99:305,0,1053:0.220:99 chr3 132400295 . A T 375.71 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.137;DP=61;Dels=0.00;FS=46.126;HRun=1;HaplotypeScore=10.3687;MQ=48.39;MQ0=0;MQRankSum=-5.992;QD=6.16;ReadPosRankSum=-2.035;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,17:61:99:406,0,997:0.279:99 chr3 132400303 . G A 196.00 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.460;DP=57;Dels=0.00;FS=24.643;HRun=0;HaplotypeScore=5.5818;MQ=48.44;MQ0=0;MQRankSum=-5.834;QD=3.44;ReadPosRankSum=-1.625;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,16:57:99:226,0,993:0.281:99 chr3 132400306 . T C 291.42 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.661;DP=52;Dels=0.00;FS=31.645;HRun=0;HaplotypeScore=2.6823;MQ=49.17;MQ0=0;MQRankSum=-5.498;QD=5.60;ReadPosRankSum=-1.764;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,14:52:99:321,0,901:0.269:99 chr3 132400312 . A C 135.41 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DP=40;Dels=0.00;FS=18.761;HRun=2;HaplotypeScore=0.0000;MQ=51.43;MQ0=0;MQRankSum=-4.311;QD=3.39;ReadPosRankSum=-1.538;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,8:40:99:165,0,898:0.200:99 chr3 132400318 . G C 108.98 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.880;DP=38;Dels=0.00;FS=15.413;HRun=2;HaplotypeScore=0.0000;MQ=50.93;MQ0=0;MQRankSum=-4.064;QD=2.87;ReadPosRankSum=-2.990;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,8:38:99:139,0,845:0.211:99 chr3 132400324 . C G 108.98 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DP=33;Dels=0.00;FS=14.956;HRun=2;HaplotypeScore=0.0000;MQ=50.25;MQ0=0;MQRankSum=-3.985;QD=3.30;ReadPosRankSum=-4.029;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,7:33:99:139,0,841:0.212:99 chr3 132441268 rs13099099 T C 391.99 LowDP AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6464;MQ=42.50;MQ0=0;QD=21.78;SB=-303.71;TI=NM_153240,NR_002811;GI=NPHP3,NCRNA00119;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,18:18:30.10:425,30,0:1.000:30 chr3 142168331 rs1802904 C T 4956.83 PASS AC=2;AF=1.00;AN=2;DP=193;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=48.82;MQ0=0;QD=25.68;SB=-3492.21;TI=NM_001184;GI=ATR;FC=Synonymous_Q2625Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,193:193:99:4957,346,0:1.000:99 chr3 142222284 rs2227931 A G 2897.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.705;DP=260;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3366;MQ=52.61;MQ0=0;MQRankSum=1.474;QD=11.14;ReadPosRankSum=-0.785;SB=-994.65;TI=NM_001184;GI=ATR;FC=Synonymous_Y1736Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:147,113:260:99:2927,0,4001:0.435:99 chr3 142277536 rs2227929 A G 3299.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.157;DP=287;Dels=0.00;FS=1.989;HRun=0;HaplotypeScore=5.5594;MQ=52.96;MQ0=0;MQRankSum=0.651;QD=11.50;ReadPosRankSum=-1.188;SB=-2004.40;TI=NM_001184;GI=ATR;FC=Synonymous_D605D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:144,143:287:99:3299,0,3363:0.498:99 chr3 142277575 rs2227930 A T 3149.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.088;DP=295;Dels=0.00;FS=1.401;HRun=1;HaplotypeScore=5.6815;MQ=54.49;MQ0=0;MQRankSum=1.995;QD=10.68;ReadPosRankSum=2.131;SB=-2253.84;TI=NM_001184;GI=ATR;FC=Synonymous_G592G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:152,142:295:99:3180,0,3626:0.483:99 chr3 142281612 rs2227928 A G 3287.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.281;DP=252;Dels=0.00;FS=5.100;HRun=0;HaplotypeScore=5.4702;MQ=53.74;MQ0=0;MQRankSum=-0.265;QD=13.05;ReadPosRankSum=-0.027;SB=-2275.19;TI=NM_001184;GI=ATR;FC=Missense_M211T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:112,140:252:99:3288,0,2410:0.556:99 chr3 150644265 . CA C 172.04 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.316;DP=98;FS=1.880;HRun=12;HaplotypeScore=157.6429;MQ=49.51;MQ0=0;MQRankSum=1.729;QD=1.76;ReadPosRankSum=-0.161;SB=-47.63;TI=NM_052995;GI=CLRN1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,18:98:99:211,0,1634:0.202:99 chr3 150661842 rs11914988 T G 683.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.974;DP=86;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6823;MQ=51.49;MQ0=0;MQRankSum=1.195;QD=7.95;ReadPosRankSum=1.046;SB=-529.10;TI=NM_052995,NM_174878,NM_001195794;GI=CLRN1,CLRN1,CLRN1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,36:86:99:713,0,1152:0.419:99 chr3 150690566 rs3796240 T C 957.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.091;DP=63;Dels=0.00;FS=2.178;HRun=2;HaplotypeScore=5.7858;MQ=53.37;MQ0=0;MQRankSum=1.741;QD=15.19;ReadPosRankSum=1.438;SB=-655.79;TI=NM_174878,NM_001195794,NR_024066;GI=CLRN1,CLRN1,CLRN1OS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,38:63:99:987,0,520:0.613:99 chr3 158362441 rs1864507 T C 978.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.337;DP=75;Dels=0.00;FS=6.482;HRun=1;HaplotypeScore=5.3890;MQ=50.50;MQ0=0;MQRankSum=0.359;QD=13.05;ReadPosRankSum=-1.698;SB=-509.73;TI=NM_024996;GI=GFM1;FC=Synonymous_A6A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,43:75:99:1009,0,579:0.573:99 chr3 158366900 rs2303909 G A 3748.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.005;DP=297;Dels=0.00;FS=3.144;HRun=0;HaplotypeScore=11.9196;MQ=54.52;MQ0=0;MQRankSum=-0.110;QD=12.62;ReadPosRankSum=0.121;SB=-2215.36;TI=NM_024996;GI=GFM1;FC=Missense_V215I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:146,151:297:99:3749,0,3717:0.508:99 chr3 158409482 rs1047366 C T 1357.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.109;DP=93;Dels=0.00;FS=1.816;HRun=2;HaplotypeScore=6.4545;MQ=56.49;MQ0=0;MQRankSum=1.282;QD=14.59;ReadPosRankSum=-1.046;SB=-598.53;TI=NM_024996;GI=GFM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,50:93:99:1387,0,1107:0.543:99 chr3 190023552 rs8298 T C 1546.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.548;DP=168;Dels=0.00;FS=1.239;HRun=2;HaplotypeScore=10.0229;MQ=54.28;MQ0=0;MQRankSum=2.673;QD=9.21;ReadPosRankSum=0.132;SB=-1021.76;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,69:168:99:1577,0,2314:0.411:99 chr3 190023837 rs8798 A G 1864.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.014;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=50.38;MQ0=0;MQRankSum=-0.006;QD=12.86;ReadPosRankSum=1.868;SB=-1487.14;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,88:145:99:1894,0,1091:0.607:99 chr3 190024057 rs1364722 C T 1035.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.244;DP=118;Dels=0.00;FS=1.497;HRun=1;HaplotypeScore=5.4025;MQ=48.06;MQ0=0;MQRankSum=-2.485;QD=8.77;ReadPosRankSum=-0.436;SB=-786.66;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,52:118:99:1065,0,1374:0.441:99 chr3 190024103 rs1895708 T C 845.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.494;DP=81;Dels=0.00;FS=1.845;HRun=0;HaplotypeScore=0.8941;MQ=51.07;MQ0=0;MQRankSum=-1.197;QD=10.43;ReadPosRankSum=0.809;SB=-629.04;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,38:81:99:875,0,955:0.469:99 chr3 190024188 rs2204226 G A 528.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.226;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=60.00;MQ0=0;MQRankSum=-0.608;QD=11.24;ReadPosRankSum=-0.181;SB=-350.38;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,25:47:99:558,0,509:0.532:99 chr3 190024457 rs9290928 A G 382.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.218;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.38;MQ0=0;MQRankSum=-0.465;QD=13.18;ReadPosRankSum=-0.421;SB=-244.12;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,17:29:99:412,0,246:0.586:99 chr3 190024643 rs1060680 G T 365.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.454;DP=26;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.8938;MQ=52.36;MQ0=0;MQRankSum=0.938;QD=14.08;ReadPosRankSum=-1.180;SB=-304.16;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,18:26:99:396,0,132:0.720:99 chr3 190025617 rs61579780 T A 878.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.016;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8100;MQ=51.23;MQ0=0;MQRankSum=1.169;QD=11.56;ReadPosRankSum=2.883;SB=-534.49;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,38:76:99:908,0,863:0.500:99 chr3 190025618 rs9842576 A G 960.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.013;DP=55;Dels=0.00;FS=1.131;HRun=1;HaplotypeScore=0.8941;MQ=53.86;MQ0=0;MQRankSum=-0.537;QD=17.46;ReadPosRankSum=-2.395;SB=-585.07;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,38:55:99:991,0,342:0.691:99 chr3 190025805 rs1043747 G T 388.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.772;DP=67;Dels=0.00;FS=2.278;HRun=2;HaplotypeScore=4.5758;MQ=44.48;MQ0=0;MQRankSum=1.106;QD=5.80;ReadPosRankSum=-0.021;SB=-214.45;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,19:67:99:418,0,1073:0.284:99 chr3 190025964 rs3172404 C T 901.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.617;DP=87;Dels=0.00;FS=1.751;HRun=2;HaplotypeScore=3.7876;MQ=54.05;MQ0=0;MQRankSum=0.686;QD=10.36;ReadPosRankSum=-0.907;SB=-549.34;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,40:87:99:931,0,978:0.460:99 chr3 190030680 rs9869263 A G 2001.45 PASS AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.11;MQ0=0;QD=23.27;SB=-1584.99;TI=NM_021101;GI=CLDN1;FC=Synonymous_G123G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,86:86:99:2034,141,0:1.000:99 chr4 980896 rs11248061 C A 116.68 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=36.45;MQ0=0;MQRankSum=0.101;QD=8.98;ReadPosRankSum=0.935;SB=-97.22;TI=NM_134425,NM_000203;GI=SLC26A1,IDUA;FC=Silent,Synonymous_A8A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,7:13:99:147,0,113:0.538:99 chr4 980971 rs10794537 T G 95.30 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=47.55;MQ0=0;QD=19.06;SB=-80.66;TI=NM_134425,NM_000203;GI=SLC26A1,IDUA;FC=Silent,Missense_H33Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:5:9.03:127,9,0:1.000:9 chr4 994414 rs3755955 G A 1389.92 PASS AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=44.23;MQ0=0;QD=24.38;SB=-1063.71;TI=NM_000203;GI=IDUA;FC=Missense_R105Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,57:57:99:1423,99,0:1.000:99 chr4 995305 rs6815946 T C 561.54 PASS AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.42;MQ0=0;QD=26.74;SB=-343.26;TI=NM_000203;GI=IDUA;FC=Synonymous_N181N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,21:21:42.14:595,42,0:1.000:42 chr4 995919 rs6830825 G C 435.71 LowDP AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.28;MQ0=0;QD=22.93;SB=-274.12;TI=NM_000203;GI=IDUA;FC=Synonymous_A314A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,19:19:33.11:469,33,0:1.000:33 chr4 996165 rs6831280 G A 1230.13 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.942;DP=57;Dels=0.00;FS=3.254;HRun=0;HaplotypeScore=6.6549;MQ=43.57;MQ0=0;MQRankSum=1.672;QD=21.58;ReadPosRankSum=1.185;SB=-910.18;TI=NM_000203;GI=IDUA;FC=Missense_A361T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,56:57:59.87:1263,60,0:0.982:59 chr4 996248 rs6836258 G C 347.11 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=48.08;MQ0=0;QD=21.69;SB=-198.61;TI=NM_000203;GI=IDUA;FC=Synonymous_T388T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,16:16:27.09:380,27,0:1.000:27 chr4 996560 . C G 387.51 LowDP AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=38.41;MQ0=0;QD=24.22;SB=-267.29;TI=NM_000203;GI=IDUA;FC=Synonymous_T410T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,16:16:30.10:421,30,0:1.000:30 chr4 996690 rs73066479 G A 252.12 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.28;MQ0=0;QD=21.01;SB=-181.75;TI=NM_000203;GI=IDUA;FC=Missense_V454I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,12:12:21.06:285,21,0:1.000:21 chr4 996888 . C T 830.57 PASS AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=46.72;MQ0=0;QD=21.86;SB=-681.38;TI=NM_000203;GI=IDUA;FC=Synonymous_R489R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,37:38:60.20:864,60,0:1.000:60 chr4 3475252 rs4325970 T C 1351.36 PASS AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=47.41;MQ0=0;QD=24.57;SB=-1056.80;TI=NM_001164673,NM_173660;GI=DOK7,DOK7;FC=Synonymous_L74L,Synonymous_L74L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,55:55:96.32:1384,96,0:1.000:96 chr4 5564191 rs2287576 A T 1344.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.766;DP=128;Dels=0.00;FS=2.258;HRun=6;HaplotypeScore=0.8941;MQ=52.24;MQ0=0;MQRankSum=1.602;QD=10.50;ReadPosRankSum=0.604;SB=-1127.33;TI=NM_147127,NM_001166136;GI=EVC2,EVC2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,68:128:99:1374,0,1355:0.531:99 chr4 5624670 rs730469 T C 54.17 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.96;MQ0=0;QD=18.06;SB=-40.01;TI=NM_147127,NM_001166136;GI=EVC2,EVC2;FC=Missense_T699A,Missense_T619A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:6.02:85,6,0:1.000:6 chr4 5710255 rs76269601 C T 608.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.623;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=49.21;MQ0=0;MQRankSum=-0.842;QD=11.71;ReadPosRankSum=1.886;SB=-413.89;TI=NM_147127,NM_001166136;GI=EVC2,EVC2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,27:52:99:639,0,498:0.519:99 chr4 5710647 rs2013183 A G 1146.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.169;DP=112;Dels=0.00;FS=0.705;HRun=1;HaplotypeScore=5.2695;MQ=52.10;MQ0=0;MQRankSum=-1.793;QD=10.24;ReadPosRankSum=0.186;SB=-892.65;TI=NM_001166136;GI=EVC2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,57:112:99:1176,0,1172:0.509:99 chr4 5710810 rs12501367 G T 265.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.122;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7150;MQ=44.41;MQ0=0;MQRankSum=0.575;QD=10.63;ReadPosRankSum=2.381;SB=-206.88;TI=NM_001166136;GI=EVC2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,14:25:99:296,0,241:0.560:99 chr4 5713080 . C G 17.18 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.380;DP=6;Dels=0.00;FS=3.310;HRun=2;HaplotypeScore=3.5588;MQ=34.54;MQ0=0;MQRankSum=-1.380;QD=2.86;ReadPosRankSum=-1.380;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:47.09:47,0,78:0.333:17 chr4 5721021 rs2291157 A C 2658.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.188;DP=236;Dels=0.00;FS=0.477;HRun=1;HaplotypeScore=13.4901;MQ=52.48;MQ0=0;MQRankSum=2.797;QD=11.27;ReadPosRankSum=3.030;SB=-2112.20;TI=NM_153717;GI=EVC;FC=Missense_Q74P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,128:236:99:2689,0,2358:0.545:99 chr4 5743509 rs6446393 C T 10458.46 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.722;DP=351;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3635;MQ=55.62;MQ0=0;MQRankSum=1.071;QD=29.80;ReadPosRankSum=-0.498;SB=-5179.00;TI=NM_153717;GI=EVC;FC=Synonymous_L257L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,350:351:99:10458,764,0:0.997:99 chr4 5743512 rs6414624 T C 10791.61 PASS AC=2;AF=1.00;AN=2;DP=364;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1527;MQ=54.89;MQ0=0;QD=29.65;SB=-5515.96;TI=NM_153717;GI=EVC;FC=Missense_Y258H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,364:364:99:10792,786,0:1.000:99 chr4 5749904 rs4688963 T C 3548.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.822;DP=344;Dels=0.00;FS=0.393;HRun=0;HaplotypeScore=14.9043;MQ=51.10;MQ0=0;MQRankSum=0.597;QD=10.31;ReadPosRankSum=-0.161;SB=-2580.30;TI=NM_153717;GI=EVC;FC=Synonymous_N323N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:181,162:344:99:3548,0,3855:0.472:99 chr4 5749961 rs4688962 G C 2439.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.014;DP=231;Dels=0.00;FS=0.496;HRun=0;HaplotypeScore=13.2501;MQ=52.97;MQ0=0;MQRankSum=0.919;QD=10.56;ReadPosRankSum=-0.783;SB=-1406.40;TI=NM_153717;GI=EVC;FC=Synonymous_L342L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:126,103:231:99:2469,0,2885:0.450:99 chr4 5750003 rs33929747 A G 2447.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.125;DP=195;Dels=0.00;FS=1.154;HRun=0;HaplotypeScore=19.1666;MQ=50.82;MQ0=0;MQRankSum=0.467;QD=12.55;ReadPosRankSum=1.378;SB=-1326.88;TI=NM_153717;GI=EVC;FC=Synonymous_L356L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:88,105:195:99:2478,0,2162:0.544:99 chr4 5755542 rs2302075 C A 4044.81 PASS AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7709;MQ=51.05;MQ0=0;QD=24.51;SB=-3042.52;TI=NM_153717;GI=EVC;FC=Missense_T449K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,165:165:99:4045,283,0:1.000:99 chr4 5785442 rs1383180 G A 1470.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.236;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8723;MQ=48.84;MQ0=0;MQRankSum=1.057;QD=8.91;ReadPosRankSum=1.935;SB=-1142.49;TI=NM_153717;GI=EVC;FC=Missense_R576Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,74:165:99:1501,0,1875:0.448:99 chr4 5812778 rs2291151 G A 1187.56 PASS AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.62;MQ0=0;QD=24.24;SB=-902.60;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,49:49:84.28:1221,84,0:1.000:84 chr4 5812974 rs16837692 C A 1181.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.210;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.3576;MQ=51.35;MQ0=0;MQRankSum=1.743;QD=9.16;ReadPosRankSum=1.630;SB=-975.27;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,61:129:99:1211,0,1325:0.473:99 chr4 5813473 . T C 120.16 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.059;DP=98;Dels=0.00;FS=17.471;HRun=0;HaplotypeScore=14.5630;MQ=41.69;MQ0=2;MQRankSum=-4.845;QD=1.23;ReadPosRankSum=0.991;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:85,12:98:99:150,0,1877:0.124:99 chr4 5813488 . G A 129.44 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.021;DP=88;Dels=0.00;FS=14.354;HRun=0;HaplotypeScore=31.1643;MQ=42.16;MQ0=2;MQRankSum=-5.159;QD=1.47;ReadPosRankSum=1.606;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:74,13:88:99:159,0,1567:0.149:99 chr4 5813489 . G A 110.62 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.140;DP=88;Dels=0.00;FS=14.274;HRun=0;HaplotypeScore=30.1909;MQ=42.16;MQ0=2;MQRankSum=-5.016;QD=1.26;ReadPosRankSum=2.150;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,12:88:99:141,0,1608:0.136:99 chr4 5813512 rs62297707 T C 1871.27 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.597;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.3460;MQ=42.69;MQ0=0;MQRankSum=1.462;QD=23.69;ReadPosRankSum=-1.687;SB=-1104.66;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,76:79:99:1904,150,0:0.987:99 chr4 5813524 . C G 57.88 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.510;DP=73;Dels=0.00;FS=8.316;HRun=0;HaplotypeScore=25.9559;MQ=42.41;MQ0=0;MQRankSum=-3.629;QD=0.79;ReadPosRankSum=-0.044;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,8:73:87.88:88,0,1418:0.110:57 chr4 5813534 . C T 52.35 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.970;DP=68;Dels=0.00;FS=11.347;HRun=0;HaplotypeScore=17.6945;MQ=42.92;MQ0=0;MQRankSum=-3.550;QD=0.77;ReadPosRankSum=-1.114;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,8:68:82.34:82,0,1282:0.118:52 chr4 5813555 . C T 24.09 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.034;DP=62;Dels=0.00;FS=6.295;HRun=0;HaplotypeScore=45.6515;MQ=42.82;MQ0=1;MQRankSum=-3.677;QD=0.39;ReadPosRankSum=-3.066;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,7:62:54.06:54,0,1115:0.113:24 chr4 5813560 . G T 266.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.427;DP=63;Dels=0.00;FS=3.322;HRun=0;HaplotypeScore=44.4511;MQ=42.69;MQ0=1;MQRankSum=-4.932;QD=4.23;ReadPosRankSum=-1.348;SB=-97.92;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,16:63:99:296,0,926:0.258:99 chr4 5813600 rs13147457 A G 12.09 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.911;DP=75;Dels=0.00;FS=12.746;HRun=1;HaplotypeScore=27.1321;MQ=43.63;MQ0=0;MQRankSum=-3.060;QD=0.16;ReadPosRankSum=2.921;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,6:75:41.80:42,0,1434:0.081:12 chr4 5813695 rs6840435 T C 2478.06 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.540;DP=110;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=17.9939;MQ=44.39;MQ0=1;MQRankSum=-1.668;QD=22.53;ReadPosRankSum=-0.289;SB=-1823.37;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,108:110:99:2511,184,0:0.991:99 chr4 5813731 . T G 40.90 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.385;DP=91;Dels=0.00;FS=19.085;HRun=2;HaplotypeScore=15.0114;MQ=45.48;MQ0=2;MQRankSum=-3.796;QD=0.45;ReadPosRankSum=-1.938;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:82,8:91:70.89:71,0,1665:0.089:40 chr4 5813735 rs13121258 C G 79.16 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.085;DP=90;Dels=0.00;FS=22.661;HRun=0;HaplotypeScore=14.8482;MQ=44.86;MQ0=2;MQRankSum=-4.542;QD=0.88;ReadPosRankSum=-1.943;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,12:90:99:109,0,1663:0.133:79 chr4 5813759 rs71599846 T A 214.76 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.822;DP=99;Dels=0.00;FS=19.970;HRun=0;HaplotypeScore=33.3010;MQ=43.89;MQ0=1;MQRankSum=-5.530;QD=2.17;ReadPosRankSum=1.071;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:77,18:99:99:245,0,1609:0.189:99 chr4 5813775 . A G 10.97 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.954;DP=89;Dels=0.00;FS=16.206;HRun=2;HaplotypeScore=36.1775;MQ=43.32;MQ0=2;MQRankSum=-2.427;QD=0.12;ReadPosRankSum=1.374;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:74,14:89:40.61:41,0,1530:0.159:10 chr4 5813783 rs13147919 A C 168.84 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DP=90;Dels=0.02;FS=24.626;HRun=2;HaplotypeScore=38.4812;MQ=43.30;MQ0=2;MQRankSum=-4.594;QD=1.88;ReadPosRankSum=2.674;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,21:88:99:199,0,1412:0.239:99 chr4 5813784 . C T 28.33 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.035;DP=90;Dels=0.00;FS=18.509;HRun=0;HaplotypeScore=39.2411;MQ=43.30;MQ0=2;MQRankSum=-3.432;QD=0.31;ReadPosRankSum=1.981;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:79,11:90:58.31:58,0,1633:0.122:28 chr4 5813798 rs62297708 G A 261.38 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.603;DP=90;Dels=0.01;FS=24.023;HRun=2;HaplotypeScore=31.4071;MQ=42.27;MQ0=2;MQRankSum=-4.946;QD=2.90;ReadPosRankSum=3.398;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,21:89:99:291,0,1309:0.239:99 chr4 5813824 rs71599848 A C 716.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.156;DP=111;Dels=0.00;FS=4.603;HRun=1;HaplotypeScore=56.8406;MQ=39.36;MQ0=4;MQRankSum=-0.035;QD=6.46;ReadPosRankSum=0.277;SB=-301.18;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,47:111:99:747,0,1063:0.427:99 chr4 5813847 rs71599850 T G 754.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.031;DP=110;Dels=0.00;FS=4.536;HRun=2;HaplotypeScore=34.6479;MQ=40.88;MQ0=8;MQRankSum=-0.558;QD=6.86;ReadPosRankSum=1.476;SB=-362.64;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,47:110:99:784,0,1076:0.431:99 chr4 5813876 rs28460555 T C 1013.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.497;DP=131;Dels=0.00;FS=0.765;HRun=0;HaplotypeScore=18.9643;MQ=41.50;MQ0=7;MQRankSum=-1.087;QD=7.74;ReadPosRankSum=0.647;SB=-650.09;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,66:131:99:1044,0,1268:0.504:99 chr4 5813887 . A G 998.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.091;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=19.1757;MQ=42.29;MQ0=5;MQRankSum=-0.533;QD=8.39;ReadPosRankSum=0.516;SB=-633.85;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,57:119:99:1028,0,1209:0.483:99 chr4 5813940 rs13121710 C A 52.43 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.315;DP=117;Dels=0.00;FS=8.824;HRun=0;HaplotypeScore=32.1858;MQ=42.05;MQ0=5;MQRankSum=-3.023;QD=0.45;ReadPosRankSum=-2.601;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:101,15:117:82.42:82,0,2045:0.129:52 chr4 5813963 . G T 31.94 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.740;DP=106;Dels=0.00;FS=4.057;HRun=0;HaplotypeScore=50.2547;MQ=41.83;MQ0=5;MQRankSum=-3.836;QD=0.30;ReadPosRankSum=-2.466;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:92,12:106:61.93:62,0,1745:0.115:31 chr4 5814021 . G T 31.39 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DP=80;Dels=0.00;FS=4.805;HRun=0;HaplotypeScore=31.2720;MQ=41.95;MQ0=3;MQRankSum=-4.828;QD=0.39;ReadPosRankSum=0.704;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,16:80:61.38:61,0,1460:0.203:31 chr4 5814048 . T A 18.39 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.416;DP=91;Dels=0.00;FS=18.423;HRun=0;HaplotypeScore=47.0989;MQ=42.61;MQ0=1;MQRankSum=-1.573;QD=0.20;ReadPosRankSum=-0.216;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:81,8:91:48.32:48,0,1608:0.090:18 chr4 5814052 . T C 15.52 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.116;DP=88;Dels=0.00;FS=4.828;HRun=1;HaplotypeScore=57.6735;MQ=43.27;MQ0=1;MQRankSum=-3.754;QD=0.18;ReadPosRankSum=-0.153;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,14:88:45.39:45,0,1567:0.163:15 chr4 5814061 . A G 75.57 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.483;DP=83;Dels=0.00;FS=6.699;HRun=1;HaplotypeScore=43.3080;MQ=43.92;MQ0=1;MQRankSum=-3.778;QD=0.91;ReadPosRankSum=-2.363;SB=-1.28;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,16:83:99:106,0,1414:0.193:75 chr4 5814078 . G T 10.25 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.611;DP=78;Dels=0.00;FS=12.547;HRun=0;HaplotypeScore=15.0250;MQ=46.81;MQ0=1;MQRankSum=-2.997;QD=0.13;ReadPosRankSum=-1.177;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,8:78:39.82:40,0,1545:0.103:10 chr4 5814085 . G A 15.86 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.946;DP=76;Dels=0.00;FS=7.060;HRun=2;HaplotypeScore=12.0026;MQ=47.43;MQ0=1;MQRankSum=-2.876;QD=0.21;ReadPosRankSum=-0.422;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,8:76:45.74:46,0,1452:0.108:15 chr4 5814607 rs68037492 CT C 1400.79 PASS AC=2;AF=1.00;AN=2;DP=34;FS=0.000;HRun=2;HaplotypeScore=17.1868;MQ=46.44;MQ0=0;QD=41.20;SB=-509.33;TI=NM_153717;GI=EVC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,34:34:99:1443,102,0:1.000:99 chr4 5815032 rs4261923 G A 109.62 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51.97;MQ0=0;MQRankSum=-0.271;QD=8.43;ReadPosRankSum=0.817;SB=-68.62;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,5:13:99:140,0,184:0.385:99 chr4 5815181 rs6848370 T C 137.69 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=52.27;MQ0=0;QD=22.95;SB=-107.61;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,6:6:12.04:170,12,0:1.000:12 chr4 5815381 rs3733186 G A 1461.77 PASS AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6823;MQ=46.87;MQ0=0;QD=24.36;SB=-1006.80;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,60:60:99:1495,105,0:1.000:99 chr4 5815444 rs3733187 G A 826.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.591;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7586;MQ=46.25;MQ0=0;MQRankSum=-1.923;QD=12.52;ReadPosRankSum=0.877;SB=-648.35;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,41:66:99:856,0,454:0.631:99 chr4 5815477 rs3733188 C T 1917.61 PASS AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=44.21;MQ0=0;QD=23.67;SB=-1537.25;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,81:81:99:1951,135,0:1.000:99 chr4 5815635 rs3733189 C T 232.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.636;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8874;MQ=50.62;MQ0=0;MQRankSum=0.907;QD=5.41;ReadPosRankSum=-0.934;SB=-147.79;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,12:43:99:263,0,695:0.279:99 chr4 5815929 rs3755847 T C 57.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.152;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50.70;MQ0=0;MQRankSum=-0.882;QD=2.21;ReadPosRankSum=-2.708;SB=-44.54;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,6:26:87.40:87,0,442:0.231:57 chr4 56236328 rs2538 C T 1745.32 PASS AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1112;MQ=48.84;MQ0=0;QD=27.27;SB=-1159.81;TI=NM_024592;GI=SRD5A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,64:64:99:1778,135,0:1.000:99 chr4 56236567 . TAACCGAAA T 3795.45 PASS AC=2;AF=1.00;AN=2;DP=39;FS=0.000;HRun=0;HaplotypeScore=69.8314;MQ=34.17;MQ0=0;QD=97.32;SB=-1040.38;TI=NM_024592;GI=SRD5A3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,36:39:99:3795,114,0:0.923:99 chr4 56236804 rs573960 G A 596.68 PASS AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=44.59;MQ0=0;QD=24.86;SB=-437.52;TI=NM_024592;GI=SRD5A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,24:24:45.15:630,45,0:1.000:45 chr4 56237137 rs576732 C T 2830.17 PASS AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6756;MQ=54.48;MQ0=0;QD=24.61;SB=-2258.60;TI=NM_024592;GI=SRD5A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,115:115:99:2863,199,0:1.000:99 chr4 56237327 rs501679 G A 1392.25 PASS AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=51.69;MQ0=0;QD=25.78;SB=-984.30;TI=NM_024592;GI=SRD5A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,53:54:99:1425,102,0:1.000:99 chr4 68620277 rs2627260 T C 1605.03 PASS AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7605;MQ=47.19;MQ0=0;QD=24.69;SB=-1146.36;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,65:65:99:1638,114,0:1.000:99 chr4 68620957 rs6552113 T C 326.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.299;DP=28;Dels=0.00;FS=3.565;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=1.539;QD=11.67;ReadPosRankSum=-0.712;SB=-127.41;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,14:28:99:357,0,387:0.500:99 chr4 68621197 rs2062303 A G 417.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.032;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;MQRankSum=0.699;QD=17.39;ReadPosRankSum=-1.397;SB=-285.63;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,17:24:99:447,0,157:0.708:99 chr4 68621308 rs2062302 A G 791.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.886;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=43.00;MQ0=0;MQRankSum=0.584;QD=8.51;ReadPosRankSum=-0.251;SB=-629.55;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,41:93:99:821,0,1083:0.441:99 chr4 68621332 rs2062301 C T 543.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.462;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=42.25;MQ0=0;MQRankSum=-2.163;QD=7.25;ReadPosRankSum=1.955;SB=-410.71;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,28:75:99:573,0,1007:0.373:99 chr4 68621550 rs13138607 G A 2099.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.074;DP=175;Dels=0.00;FS=0.568;HRun=0;HaplotypeScore=8.0468;MQ=49.89;MQ0=0;MQRankSum=-0.507;QD=11.99;ReadPosRankSum=-0.873;SB=-1650.27;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,101:175:99:2129,0,1502:0.584:99 chr4 68621585 rs68081244 CA C 1668.19 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=6.986;DP=121;FS=0.000;HRun=10;HaplotypeScore=315.7038;MQ=50.91;MQ0=0;MQRankSum=0.663;QD=13.79;ReadPosRankSum=-1.418;SB=-738.86;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,67:121:99:1707,0,1074:0.573:99 chr4 78979141 rs34237418 C T 871.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.827;DP=75;Dels=0.00;FS=3.118;HRun=1;HaplotypeScore=4.2917;MQ=49.17;MQ0=0;MQRankSum=-0.710;QD=11.63;ReadPosRankSum=-0.859;SB=-576.72;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,42:75:99:902,0,658:0.560:99 chr4 78987157 rs4859905 A G 4837.71 PASS AC=2;AF=1.00;AN=2;DP=202;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=10.2520;MQ=52.32;MQ0=0;QD=23.95;SB=-3680.25;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_D32G,Missense_D32G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,202:202:99:4838,337,0:1.000:99 chr4 79205699 rs12504081 T A 385.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.447;DP=39;Dels=0.00;FS=1.236;HRun=0;HaplotypeScore=0.9998;MQ=47.19;MQ0=0;MQRankSum=-0.492;QD=9.88;ReadPosRankSum=-1.925;SB=-295.38;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_L466I,Missense_L466I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,20:39:99:415,0,414:0.513:99 chr4 79238649 rs345514 T C 2253.03 PASS AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=50.82;MQ0=0;QD=23.72;SB=-1780.53;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Synonymous_H649H,Synonymous_H649H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,95:95:99:2286,160,0:1.000:99 chr4 79284694 rs6835769 C T 1059.03 PASS AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.19;MQ0=0;QD=22.53;SB=-825.04;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_A817V,Missense_A817V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,47:47:75.25:1092,75,0:1.000:75 chr4 79300899 rs35774552 T C 974.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.015;DP=113;Dels=0.00;FS=1.581;HRun=1;HaplotypeScore=4.7027;MQ=49.39;MQ0=0;MQRankSum=-0.362;QD=8.62;ReadPosRankSum=-1.122;SB=-619.75;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Synonymous_S1104S,Synonymous_S1104S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,46:113:99:1004,0,1374:0.414:99 chr4 79300993 rs12512164 G A 1308.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.569;DP=141;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5489;MQ=50.27;MQ0=0;MQRankSum=-0.901;QD=9.28;ReadPosRankSum=-1.108;SB=-1028.24;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_E1136K,Missense_E1136K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:77,64:141:99:1339,0,1768:0.454:99 chr4 79343111 rs78575519 G A 479.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.068;DP=65;Dels=0.00;FS=2.167;HRun=0;HaplotypeScore=6.3499;MQ=49.33;MQ0=0;MQRankSum=-2.270;QD=7.38;ReadPosRankSum=0.218;SB=-405.83;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Synonymous_P1545P,Synonymous_P1545P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,27:65:99:510,0,834:0.422:99 chr4 79371474 rs17003235 C T 992.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.436;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7523;MQ=50.10;MQ0=0;MQRankSum=-0.152;QD=7.69;ReadPosRankSum=-1.847;SB=-608.32;TI=NM_025074;GI=FRAS1;FC=Synonymous_T2148T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,51:129:99:1023,0,1837:0.395:99 chr4 79372930 rs753752 C T 6882.97 PASS AC=2;AF=1.00;AN=2;DP=249;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2804;MQ=50.36;MQ0=0;QD=27.64;SB=-4610.25;TI=NM_025074;GI=FRAS1;FC=Synonymous_H2156H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,249:249:99:6883,497,0:1.000:99 chr4 79385719 rs6851427 G A 697.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.557;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=46.11;MQ0=0;MQRankSum=0.405;QD=9.97;ReadPosRankSum=-0.206;SB=-576.39;TI=NM_025074;GI=FRAS1;FC=Synonymous_A2337A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,36:70:99:728,0,699:0.514:99 chr4 79387442 rs7660664 C T 1504.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.615;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.3251;MQ=48.32;MQ0=0;MQRankSum=-1.150;QD=13.09;ReadPosRankSum=0.183;SB=-1135.31;TI=NM_025074;GI=FRAS1;FC=Synonymous_H2370H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,70:115:99:1535,0,855:0.614:99 chr4 79387464 rs7684722 A G 2802.06 PASS AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48.67;MQ0=0;QD=23.35;SB=-2122.82;TI=NM_025074;GI=FRAS1;FC=Missense_K2378E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,120:120:99:2835,196,0:1.000:99 chr4 79400868 rs11098194 C T 99.40 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.551;DP=15;Dels=0.00;FS=2.216;HRun=0;HaplotypeScore=0.0000;MQ=50.24;MQ0=0;MQRankSum=-0.796;QD=6.63;ReadPosRankSum=-1.898;SB=-20.21;TI=NM_025074;GI=FRAS1;FC=Synonymous_D2813D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,5:15:99:129,0,227:0.333:99 chr4 79403682 rs41327848 C T 1664.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.603;DP=178;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.5711;MQ=49.47;MQ0=0;MQRankSum=-1.339;QD=9.35;ReadPosRankSum=-1.796;SB=-1298.38;TI=NM_025074;GI=FRAS1;FC=Synonymous_F2915F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,84:178:99:1695,0,1947:0.472:99 chr4 79421011 rs11933630 G T 430.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.254;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=46.97;MQ0=0;MQRankSum=0.368;QD=7.42;ReadPosRankSum=2.511;SB=-290.20;TI=NM_025074;GI=FRAS1;FC=Synonymous_R3084R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,20:58:99:460,0,847:0.345:99 chr4 79434685 rs35933858 T G 1029.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.144;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=46.30;MQ0=0;MQRankSum=-1.615;QD=8.51;ReadPosRankSum=-1.495;SB=-754.76;TI=NM_025074;GI=FRAS1;FC=Missense_Y3385D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,52:121:99:1059,0,1584:0.430:99 chr4 79443837 rs931605 A T 938.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.769;DP=123;Dels=0.00;FS=0.694;HRun=0;HaplotypeScore=1.7882;MQ=45.72;MQ0=0;MQRankSum=-2.436;QD=7.63;ReadPosRankSum=-1.253;SB=-721.02;TI=NM_025074;GI=FRAS1;FC=Missense_E3561D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:74,49:123:99:969,0,1573:0.398:99 chr4 79443850 rs931606 G A 744.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.249;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=46.56;MQ0=0;MQRankSum=-0.746;QD=6.70;ReadPosRankSum=-0.028;SB=-617.34;TI=NM_025074;GI=FRAS1;FC=Missense_V3566I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,40:111:99:774,0,1517:0.360:99 chr4 79462311 rs72659058 T A 2520.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.329;DP=272;Dels=0.00;FS=1.465;HRun=4;HaplotypeScore=8.3634;MQ=56.37;MQ0=0;MQRankSum=4.908;QD=9.27;ReadPosRankSum=2.009;SB=-1840.79;TI=NM_025074;GI=FRAS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:148,123:272:99:2551,0,3208:0.454:99 chr4 79462560 rs3749485 A T 697.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.576;DP=62;Dels=0.00;FS=2.155;HRun=1;HaplotypeScore=0.8941;MQ=43.91;MQ0=0;MQRankSum=-0.227;QD=11.26;ReadPosRankSum=3.606;SB=-527.30;TI=NM_025074;GI=FRAS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,35:62:99:728,0,607:0.565:99 chr4 79464432 rs3811747 C T 588.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.624;DP=75;Dels=0.00;FS=0.918;HRun=2;HaplotypeScore=2.7876;MQ=47.79;MQ0=0;MQRankSum=1.329;QD=7.85;ReadPosRankSum=2.450;SB=-447.90;TI=NM_025074;GI=FRAS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,33:75:99:619,0,814:0.440:99 chr4 79464767 rs11098227 T C 809.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.704;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2307;MQ=48.17;MQ0=0;MQRankSum=0.685;QD=9.99;ReadPosRankSum=1.544;SB=-582.74;TI=NM_025074;GI=FRAS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,40:81:99:839,0,924:0.494:99 chr4 79464978 rs11098228 G A 1722.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.232;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4425;MQ=53.01;MQ0=0;MQRankSum=2.462;QD=9.95;ReadPosRankSum=0.568;SB=-1204.05;TI=NM_025074;GI=FRAS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:93,80:173:99:1752,0,2020:0.462:99 chr4 79465100 . A ATTTT 569.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.291;DP=26;FS=0.000;HRun=2;HaplotypeScore=10.8023;MQ=52.40;MQ0=0;MQRankSum=0.079;QD=21.89;ReadPosRankSum=0.395;SB=-181.69;TI=NM_025074;GI=FRAS1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,10:26:99:608,0,1016:0.385:99 chr4 80823880 . AT A 71.87 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.176;DP=53;FS=0.000;HRun=12;HaplotypeScore=50.4337;MQ=51.83;MQ0=0;MQRankSum=1.561;QD=1.36;ReadPosRankSum=-1.106;SB=-46.59;TI=NM_058172;GI=ANTXR2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,9:53:99:111,0,859:0.191:71 chr4 80824888 rs4611863 A G 2158.43 PASS AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48.04;MQ0=0;QD=25.39;SB=-1532.88;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,85:85:99:2191,154,0:1.000:99 chr4 80993942 rs80314910 CTT C 836.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.106;DP=35;FS=0.000;HRun=2;HaplotypeScore=33.7576;MQ=46.97;MQ0=0;MQRankSum=-0.545;QD=23.89;ReadPosRankSum=-1.370;SB=-398.45;TI=NM_058172,NM_001145794;GI=ANTXR2,ANTXR2;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,17:35:99:875,0,837:0.486:99 chr4 80994033 rs11557908 G C 102.49 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=10;Dels=0.00;FS=2.430;HRun=1;HaplotypeScore=0.8321;MQ=57.66;MQ0=0;MQRankSum=1.447;QD=10.25;ReadPosRankSum=1.866;SB=-28.61;TI=NM_058172,NM_001145794;GI=ANTXR2,ANTXR2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,4:10:99:132,0,204:0.400:99 chr4 84188850 rs1129617 G A 846.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.543;DP=116;Dels=0.00;FS=1.569;HRun=0;HaplotypeScore=9.2574;MQ=47.15;MQ0=0;MQRankSum=-1.612;QD=7.30;ReadPosRankSum=-0.926;SB=-529.53;TI=NM_015697;GI=COQ2;FC=Synonymous_S330S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,43:116:99:877,0,1573:0.371:99 chr4 84191031 rs6535454 A G 7990.65 PASS AC=2;AF=1.00;AN=2;DP=252;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5658;MQ=53.32;MQ0=0;QD=31.71;SB=-3021.95;TI=NM_015697;GI=COQ2;FC=Synonymous_D298D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,252:252:99:7991,587,0:1.000:99 chr4 84205872 rs6818847 C A 1134.27 PASS AC=2;AF=1.00;AN=2;DP=50;Dels=0.04;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=47.80;MQ0=0;QD=22.69;SB=-758.29;TI=NM_015697;GI=COQ2;FC=Missense_V66L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,48:48:81.27:1167,81,0:1.000:81 chr4 88585217 rs35239689 AT A 544.53 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.639;DP=62;FS=2.412;HRun=13;HaplotypeScore=182.1635;MQ=55.60;MQ0=0;MQRankSum=0.455;QD=8.78;ReadPosRankSum=-0.570;SB=-219.85;TI=NM_001079911,NM_004407;GI=DMP1,DMP1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,27:62:99:584,0,487:0.482:99 chr4 108931039 rs4956145 T C 5920.32 PASS AC=2;AF=1.00;AN=2;DP=231;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6717;MQ=45.61;MQ0=0;QD=25.63;SB=-3858.95;TI=NM_001184705,NM_005327;GI=HADH,HADH;FC=Missense_L86P,Missense_L86P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,231:231:99:5920,433,0:1.000:99 chr4 108955622 rs221347 T A 1014.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.084;DP=85;Dels=0.00;FS=1.781;HRun=0;HaplotypeScore=2.7041;MQ=49.59;MQ0=0;MQRankSum=2.599;QD=11.93;ReadPosRankSum=0.638;SB=-713.44;TI=NM_001184705,NM_005327;GI=HADH,HADH;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,44:85:99:1044,0,959:0.518:99 chr4 119201587 rs1045817 C T 685.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.649;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8928;MQ=51.87;MQ0=0;MQRankSum=1.450;QD=12.02;ReadPosRankSum=0.473;SB=-479.06;TI=NM_003619;GI=PRSS12;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,31:57:99:715,0,527:0.544:99 chr4 119219909 rs28661939 C A 1133.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.488;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8182;MQ=45.89;MQ0=0;MQRankSum=-0.522;QD=7.46;ReadPosRankSum=1.988;SB=-862.48;TI=NM_003619;GI=PRSS12;FC=Missense_A606S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,61:152:99:1164,0,1837:0.401:99 chr4 119237348 rs2292597 T C 898.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.152;DP=127;Dels=0.00;FS=2.292;HRun=0;HaplotypeScore=4.4922;MQ=51.22;MQ0=0;MQRankSum=0.364;QD=7.08;ReadPosRankSum=-0.186;SB=-732.09;TI=NM_003619;GI=PRSS12;FC=Synonymous_Q427Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,49:127:99:929,0,1608:0.386:99 chr4 146579871 . G A 56.89 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.077;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=44.54;MQ0=0;MQRankSum=0.540;QD=4.38;ReadPosRankSum=1.466;SB=-24.97;TI=NM_172250;GI=MMAA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,4:13:86.88:87,0,218:0.308:56 chr4 155504948 rs2070022 G A 964.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.891;DP=99;Dels=0.00;FS=3.801;HRun=0;HaplotypeScore=3.5764;MQ=52.45;MQ0=0;MQRankSum=0.356;QD=9.74;ReadPosRankSum=0.074;SB=-683.38;TI=NM_000508;GI=FGA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,44:99:99:995,0,1354:0.444:99 chr4 155505270 . T G 17.39 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.493;DP=56;Dels=0.00;FS=13.582;HRun=0;HaplotypeScore=1.7882;MQ=55.31;MQ0=0;MQRankSum=-2.784;QD=0.31;ReadPosRankSum=-2.625;SB=-0.01;TI=NM_000508;GI=FGA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,4:56:47.30:47,0,1191:0.071:17 chr4 155505271 . T A 13.63 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.155;DP=55;Dels=0.00;FS=13.979;HRun=0;HaplotypeScore=0.8941;MQ=55.59;MQ0=0;MQRankSum=-2.836;QD=0.25;ReadPosRankSum=-2.771;SB=-0.01;TI=NM_000508;GI=FGA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,4:55:43.43:43,0,1176:0.073:13 chr4 155505272 . C A 17.39 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.118;DP=55;Dels=0.00;FS=13.979;HRun=1;HaplotypeScore=0.8941;MQ=55.59;MQ0=0;MQRankSum=-2.803;QD=0.32;ReadPosRankSum=-2.674;SB=-0.01;TI=NM_000508;GI=FGA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,4:55:47.31:47,0,1178:0.073:17 chr4 155505274 . G A 12.80 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.479;DP=54;Dels=0.00;FS=15.194;HRun=1;HaplotypeScore=0.8941;MQ=55.50;MQ0=0;MQRankSum=-2.758;QD=0.24;ReadPosRankSum=-2.923;SB=-0.01;TI=NM_000508;GI=FGA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,4:54:42.55:43,0,1171:0.074:12 chr4 155507590 rs6050 T C 1742.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.890;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=27.6740;MQ=50.18;MQ0=0;MQRankSum=1.848;QD=10.37;ReadPosRankSum=-0.386;SB=-1266.87;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Missense_T331A,Missense_T331A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,83:168:99:1773,0,1731:0.497:99 chr4 155511897 rs2070011 T C 1123.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.355;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=45.59;MQ0=0;MQRankSum=0.373;QD=10.22;ReadPosRankSum=-1.009;SB=-852.00;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,55:110:99:1154,0,1066:0.505:99 chr4 159601676 rs11559290 C T 7288.39 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.694;DP=274;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0428;MQ=52.01;MQ0=0;MQRankSum=1.530;QD=26.60;ReadPosRankSum=0.645;SB=-4839.05;TI=NM_004453;GI=ETFDH;FC=Missense_T31I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,273:274:99:7288,524,0:0.996:99 chr4 159629814 rs17843966 A C 841.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.016;DP=74;Dels=0.00;FS=0.978;HRun=1;HaplotypeScore=1.7882;MQ=54.95;MQ0=0;MQRankSum=-2.164;QD=11.37;ReadPosRankSum=0.428;SB=-285.05;TI=NM_004453;GI=ETFDH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,34:74:99:871,0,1020:0.459:99 chr4 187004074 rs3775291 C T 1404.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.024;DP=85;Dels=0.00;FS=1.906;HRun=1;HaplotypeScore=1.9995;MQ=50.87;MQ0=0;MQRankSum=2.525;QD=16.53;ReadPosRankSum=0.694;SB=-920.18;TI=NM_003265;GI=TLR3;FC=Missense_L412F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,58:85:99:1435,0,554:0.682:99 chr5 6604787 rs13181449 C T 1615.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.908;DP=189;Dels=0.00;FS=1.144;HRun=0;HaplotypeScore=6.2312;MQ=52.53;MQ0=0;MQRankSum=-1.042;QD=8.55;ReadPosRankSum=0.154;SB=-1268.99;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Synonymous_T583T,Synonymous_T548T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,82:189:99:1645,0,2388:0.434:99 chr5 6633447 rs8192125 C T 248.29 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.467;DP=14;Dels=0.00;FS=2.963;HRun=0;HaplotypeScore=3.4525;MQ=58.33;MQ0=0;MQRankSum=-0.133;QD=17.73;ReadPosRankSum=-0.933;SB=-31.00;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,9:14:83.08:278,0,83:0.643:83 chr5 33989518 rs2278008 C T 8984.27 PASS AC=2;AF=1.00;AN=2;DP=359;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=17.6870;MQ=53.03;MQ0=0;QD=25.03;SB=-6816.18;TI=NM_014324,NM_001167595,NM_203382;GI=AMACR,AMACR,AMACR;FC=Missense_E277K,Missense_E277K,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,359:359:99:8984,626,0:1.000:99 chr5 33998883 rs2287939 A G 4619.80 PASS AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2586;MQ=51.04;MQ0=0;QD=27.50;SB=-2466.08;TI=NM_014324,NM_001167595,NM_203382,NM_001167597,NM_001167596,NM_001167598;GI=AMACR,AMACR,AMACR,AMACR,AMACR,AMACR;FC=Missense_L201S,Missense_L201S,Synonymous_I147I,Synonymous_I147I,Missense_L201S,Missense_L201S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,168:168:99:4620,328,0:1.000:99 chr5 34004707 rs10941112 C T 2576.64 PASS AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3022;MQ=48.00;MQ0=0;QD=26.29;SB=-1615.68;TI=NM_014324,NM_001167595,NM_203382,NM_001167597,NM_001167596,NM_001167598;GI=AMACR,AMACR,AMACR,AMACR,AMACR,AMACR;FC=Missense_G175D,Missense_G175D,Silent,Silent,Missense_G175D,Missense_G175D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,97:98:99:2610,187,0:1.000:99 chr5 34008100 rs3195676 C T 1284.61 PASS AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2421;MQ=45.37;MQ0=0;QD=23.36;SB=-955.35;TI=NM_014324,NM_001167595,NM_203382,NM_001167597,NM_001167596,NM_001167598;GI=AMACR,AMACR,AMACR,AMACR,AMACR,AMACR;FC=Missense_V9M,Missense_V9M,Missense_V9M,Missense_V9M,Missense_V9M,Missense_V9M;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,55:55:93.31:1318,93,0:1.000:93 chr5 34008206 rs3217251 CCGGCGCCACGCCCCCAGCCG C 693.29 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=10;FS=0.000;HRun=0;HaplotypeScore=15.1776;MQ=36.88;MQ0=0;QD=69.33;SB=-349.94;TI=NM_014324,NM_001167595,NM_203382,NM_001167597,NM_001167596,NM_001167598;GI=AMACR,AMACR,AMACR,AMACR,AMACR,AMACR;FC=Splicing,Splicing,Splicing,Splicing,Splicing,Splicing;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,6:10:18.06:735,18,0:0.600:18 chr5 38475507 rs1046224 G A 591.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.492;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55.36;MQ0=0;MQRankSum=-1.161;QD=11.38;ReadPosRankSum=-0.276;SB=-303.05;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,23:52:99:622,0,736:0.442:99 chr5 38476027 rs3822425 T C 1602.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.748;DP=152;Dels=0.00;FS=1.275;HRun=0;HaplotypeScore=5.4671;MQ=50.58;MQ0=0;MQRankSum=1.075;QD=10.54;ReadPosRankSum=1.189;SB=-1223.25;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,74:152:99:1633,0,1748:0.487:99 chr5 38476624 rs34579169 C CT 267.94 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.892;DP=39;FS=3.278;HRun=12;HaplotypeScore=140.7047;MQ=56.25;MQ0=0;MQRankSum=-1.509;QD=6.87;ReadPosRankSum=-1.444;SB=-85.64;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,17:39:99:307,0,290:0.548:99 chr5 38477863 rs34130318 G C 645.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.146;DP=50;Dels=0.00;FS=1.193;HRun=0;HaplotypeScore=0.9947;MQ=56.37;MQ0=0;MQRankSum=-0.126;QD=12.92;ReadPosRankSum=-0.845;SB=-274.57;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,24:50:99:676,0,836:0.480:99 chr5 38480227 rs13156520 A C 982.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.492;DP=90;Dels=0.00;FS=10.524;HRun=1;HaplotypeScore=8.4363;MQ=58.81;MQ0=0;MQRankSum=-1.665;QD=10.92;ReadPosRankSum=-0.435;SB=-432.51;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,37:90:99:1013,0,1542:0.411:99 chr5 38481335 rs1005017 C T 1215.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.290;DP=106;Dels=0.00;FS=6.477;HRun=0;HaplotypeScore=3.6770;MQ=51.87;MQ0=0;MQRankSum=0.626;QD=11.47;ReadPosRankSum=2.470;SB=-856.72;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,56:106:99:1246,0,1214:0.533:99 chr5 38485971 rs74856317 T C 933.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.456;DP=85;Dels=0.00;FS=1.828;HRun=1;HaplotypeScore=3.6816;MQ=47.40;MQ0=0;MQRankSum=-1.253;QD=10.98;ReadPosRankSum=0.040;SB=-681.29;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Missense_D816G,Missense_D816G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,44:85:99:963,0,906:0.518:99 chr5 38556685 . G C 27.15 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.944;DP=13;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7608;MQ=36.45;MQ0=0;MQRankSum=-0.592;QD=2.09;ReadPosRankSum=-0.254;SB=-21.95;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,3:13:57.13:57,0,203:0.231:27 chr5 52394018 rs3839261 GC G 3002.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.892;DP=138;FS=0.691;HRun=1;HaplotypeScore=102.1600;MQ=50.21;MQ0=0;MQRankSum=2.080;QD=21.76;ReadPosRankSum=-0.462;SB=-1005.97;TI=NM_004531,NM_176806;GI=MOCS2,MOCS2;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,76:138:99:3042,0,2313:0.559:99 chr5 52405174 rs77585010 C A 2506.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.287;DP=252;Dels=0.00;FS=5.165;HRun=2;HaplotypeScore=16.3872;MQ=53.39;MQ0=0;MQRankSum=1.332;QD=9.95;ReadPosRankSum=2.799;SB=-1867.88;TI=NM_004531,NM_176806;GI=MOCS2,MOCS2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:132,120:252:99:2537,0,3012:0.476:99 chr5 52856504 rs2279516 G C 1264.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.683;DP=101;Dels=0.00;FS=0.744;HRun=0;HaplotypeScore=0.8941;MQ=51.54;MQ0=0;MQRankSum=1.390;QD=12.52;ReadPosRankSum=-0.615;SB=-730.22;TI=NM_002495;GI=NDUFS4;FC=Synonymous_V4V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,52:101:99:1294,0,1247:0.515:99 chr5 52942083 rs31304 A C 1561.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.710;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6729;MQ=50.08;MQ0=0;MQRankSum=0.707;QD=10.70;ReadPosRankSum=1.611;SB=-1024.60;TI=NM_002495;GI=NDUFS4;FC=Synonymous_G66G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:74,72:146:99:1592,0,1599:0.493:99 chr5 52942197 rs31303 A G 2005.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.653;DP=170;Dels=0.00;FS=1.212;HRun=1;HaplotypeScore=2.7798;MQ=51.11;MQ0=0;MQRankSum=0.487;QD=11.80;ReadPosRankSum=1.006;SB=-1426.53;TI=NM_002495;GI=NDUFS4;FC=Synonymous_R104R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:79,91:170:99:2036,0,1686:0.535:99 chr5 52979097 rs567 G A 1484.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.394;DP=129;Dels=0.00;FS=1.398;HRun=0;HaplotypeScore=2.7041;MQ=51.85;MQ0=0;MQRankSum=-0.026;QD=11.51;ReadPosRankSum=-0.342;SB=-1160.51;TI=NM_002495;GI=NDUFS4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,69:129:99:1515,0,1435:0.535:99 chr5 60170337 rs3117 A G 2405.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.471;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.3618;MQ=54.77;MQ0=0;MQRankSum=1.393;QD=11.35;ReadPosRankSum=0.063;SB=-1498.89;TI=NM_000082;GI=ERCC8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:103,109:212:99:2435,0,2226:0.514:99 chr5 60200665 rs4647100 A G 2872.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.617;DP=248;Dels=0.00;FS=2.363;HRun=0;HaplotypeScore=9.9610;MQ=54.36;MQ0=0;MQRankSum=0.947;QD=11.58;ReadPosRankSum=0.460;SB=-1042.82;TI=NM_000082;GI=ERCC8;FC=Synonymous_Y145Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:137,110:248:99:2903,0,3469:0.445:99 chr5 60240986 rs158922 A G 512.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.822;DP=60;Dels=0.00;FS=0.986;HRun=1;HaplotypeScore=1.8561;MQ=50.13;MQ0=0;MQRankSum=-0.867;QD=8.54;ReadPosRankSum=1.000;SB=-399.97;TI=NM_174889;GI=NDUFAF2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,28:60:99:543,0,779:0.467:99 chr5 60241142 rs158921;rs79660491 G A 697.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.587;DP=117;Dels=0.00;FS=0.793;HRun=2;HaplotypeScore=0.8667;MQ=43.86;MQ0=16;MQRankSum=0.917;QD=5.96;ReadPosRankSum=0.310;SB=-502.89;TI=NM_174889;GI=NDUFAF2;FC=Synonymous_K20K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,39:117:99:728,0,1357:0.333:99 chr5 73981270 rs820878 T C 3071.53 PASS AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=49.60;MQ0=0;QD=25.38;SB=-2053.26;TI=NM_000521;GI=HEXB;FC=Missense_L62S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,121:121:99:3105,220,0:1.000:99 chr5 77298619 rs11552314 A T 2042.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.042;DP=201;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.9409;MQ=49.29;MQ0=0;MQRankSum=0.266;QD=10.16;ReadPosRankSum=0.132;SB=-1487.63;TI=NM_003664;GI=AP3B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:103,98:201:99:2072,0,2182:0.488:99 chr5 77412011 rs42360 A G 3618.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.472;DP=326;Dels=0.00;FS=3.778;HRun=1;HaplotypeScore=20.3248;MQ=53.67;MQ0=0;MQRankSum=2.209;QD=11.10;ReadPosRankSum=0.296;SB=-1615.28;TI=NM_003664;GI=AP3B1;FC=Synonymous_A672A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:181,145:326:99:3619,0,4198:0.445:99 chr5 77425028 rs6453373 A T 6524.56 PASS AC=2;AF=1.00;AN=2;DP=254;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=12.5602;MQ=49.30;MQ0=0;QD=25.69;SB=-4836.56;TI=NM_003664;GI=AP3B1;FC=Missense_V585E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,254:254:99:6525,458,0:1.000:99 chr5 77473165 rs4532349 A G 4287.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.838;DP=372;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.9229;MQ=52.23;MQ0=0;MQRankSum=1.342;QD=11.53;ReadPosRankSum=0.511;SB=-2847.87;TI=NM_003664;GI=AP3B1;FC=Synonymous_N346N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:179,193:372:99:4288,0,3890:0.519:99 chr5 78073245 rs3088247 C A 2022.70 PASS AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=57.30;MQ0=0;QD=31.12;SB=-935.93;TI=NM_000046;GI=ARSB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,65:65:99:2056,150,0:1.000:99 chr5 78073674 . C CAA 168.93 LowGQ;LowGQX;R8;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.761;DP=19;FS=0.000;HRun=20;HaplotypeScore=120.3278;MQ=41.22;MQ0=0;MQRankSum=-0.423;QD=8.89;ReadPosRankSum=0.423;SB=-73.02;TI=NM_000046;GI=ARSB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,8:19:3.36:207,0,3:0.615:3 chr5 78074198 rs7704939 A C 796.30 PASS AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.48;MQ0=0;QD=29.49;SB=-514.70;TI=NM_000046;GI=ARSB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,27:27:60.20:829,60,0:1.000:60 chr5 78074918 rs754566 C A 671.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.888;DP=77;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=50.85;MQ0=0;MQRankSum=-0.231;QD=8.72;ReadPosRankSum=-0.200;SB=-526.36;TI=NM_000046;GI=ARSB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,34:77:99:701,0,908:0.442:99 chr5 78181423 rs17220759 C T 357.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.657;DP=50;Dels=0.00;FS=1.114;HRun=0;HaplotypeScore=2.6548;MQ=46.13;MQ0=0;MQRankSum=0.394;QD=7.15;ReadPosRankSum=1.890;SB=-235.33;TI=NM_000046,NM_198709;GI=ARSB,ARSB;FC=Missense_V376M,Missense_V376M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,18:50:99:387,0,669:0.360:99 chr5 78181477 rs1065757 C T 866.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.643;DP=83;Dels=0.00;FS=1.800;HRun=0;HaplotypeScore=4.5915;MQ=45.19;MQ0=0;MQRankSum=-1.928;QD=10.44;ReadPosRankSum=2.128;SB=-702.94;TI=NM_000046,NM_198709;GI=ARSB,ARSB;FC=Missense_V358M,Missense_V358M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,43:83:99:896,0,907:0.518:99 chr5 78281373 rs163127 T C 7175.47 PASS AC=2;AF=1.00;AN=2;DP=285;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=139.8289;MQ=56.71;MQ0=0;QD=25.18;SB=-4975.67;TI=NM_000046,NM_198709;GI=ARSB,ARSB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,284:285:99:7175,509,0:1.000:99 chr5 89943571 rs2366777 G T 2627.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.491;DP=244;Dels=0.00;FS=0.469;HRun=2;HaplotypeScore=14.8297;MQ=51.45;MQ0=0;MQRankSum=-0.702;QD=10.77;ReadPosRankSum=0.229;SB=-1778.64;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_L1093F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:126,117:244:99:2658,0,2771:0.481:99 chr5 89953849 rs17543819 C T 3760.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.045;DP=347;Dels=0.00;FS=3.489;HRun=0;HaplotypeScore=26.5848;MQ=53.89;MQ0=0;MQRankSum=1.673;QD=10.84;ReadPosRankSum=0.906;SB=-2224.58;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Synonymous_P1502P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:184,163:347:99:3760,0,4120:0.470:99 chr5 89979518 rs17544552 C T 1173.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.492;DP=108;Dels=0.00;FS=0.721;HRun=0;HaplotypeScore=2.7880;MQ=46.58;MQ0=0;MQRankSum=1.138;QD=10.87;ReadPosRankSum=1.108;SB=-932.57;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_T1927M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,57:108:99:1204,0,1052:0.528:99 chr5 89979589 rs4916684 G A 724.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.045;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8863;MQ=51.30;MQ0=0;MQRankSum=0.678;QD=10.06;ReadPosRankSum=1.266;SB=-460.83;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_V1951I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,33:72:99:754,0,881:0.458:99 chr5 89990324 rs1878878 A G 132.37 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.745;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.95;MQ0=0;MQRankSum=0.833;QD=6.97;ReadPosRankSum=1.096;SB=-60.39;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_N2584S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,6:19:99:162,0,337:0.316:99 chr5 90024735 rs2366928 G A 704.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.182;DP=66;Dels=0.00;FS=2.094;HRun=4;HaplotypeScore=0.8941;MQ=52.81;MQ0=0;MQRankSum=1.773;QD=10.67;ReadPosRankSum=-1.221;SB=-400.29;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_E3471K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,31:66:99:734,0,750:0.470:99 chr5 90074759 rs35092519 G A 1532.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.125;DP=134;Dels=0.00;FS=5.310;HRun=0;HaplotypeScore=0.0000;MQ=49.09;MQ0=0;MQRankSum=1.769;QD=11.43;ReadPosRankSum=1.355;SB=-825.33;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Synonymous_A4309A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,68:134:99:1562,0,1448:0.507:99 chr5 90107108 rs2438374 A G 408.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.524;DP=25;Dels=0.00;FS=4.172;HRun=2;HaplotypeScore=1.7882;MQ=54.55;MQ0=0;MQRankSum=2.746;QD=16.35;ReadPosRankSum=-0.194;SB=-132.79;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_E5344G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,15:25:99:439,0,226:0.600:99 chr5 90119324 rs2438378 G A 3853.47 PASS AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=50.91;MQ0=0;QD=25.52;SB=-2817.64;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_V5427M;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,151:151:99:3853,271,0:1.000:99 chr5 90445884 . A G 801.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.093;DP=82;Dels=0.00;FS=0.848;HRun=0;HaplotypeScore=15.3680;MQ=53.98;MQ0=0;MQRankSum=0.501;QD=9.78;ReadPosRankSum=-0.325;SB=-503.12;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_N6157S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,39:82:99:832,0,935:0.476:99 chr5 118788196 rs26180 C G 2156.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.500;DP=206;Dels=0.00;FS=3.175;HRun=0;HaplotypeScore=17.9903;MQ=50.42;MQ0=0;MQRankSum=0.934;QD=10.47;ReadPosRankSum=-0.775;SB=-1580.16;TI=NM_000414,NM_001199292;GI=HSD17B4,HSD17B4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:106,100:206:99:2187,0,2201:0.485:99 chr5 118860938 rs11539471 T C 2361.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.920;DP=217;Dels=0.00;FS=1.655;HRun=1;HaplotypeScore=6.4660;MQ=51.64;MQ0=0;MQRankSum=2.795;QD=10.88;ReadPosRankSum=1.741;SB=-1725.10;TI=NM_000414,NM_001199292,NM_001199291;GI=HSD17B4,HSD17B4,HSD17B4;FC=Missense_W511R,Missense_W493R,Missense_W536R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:106,110:217:99:2391,0,2280:0.509:99 chr5 118861713 rs11205 A G 3049.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.782;DP=288;Dels=0.00;FS=0.899;HRun=0;HaplotypeScore=13.8340;MQ=52.38;MQ0=0;MQRankSum=0.356;QD=10.59;ReadPosRankSum=-0.625;SB=-2162.32;TI=NM_000414,NM_001199292,NM_001199291;GI=HSD17B4,HSD17B4,HSD17B4;FC=Missense_I559V,Missense_I541V,Missense_I584V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:148,140:288:99:3080,0,3272:0.486:99 chr5 118877933 . T TA 2952.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=11.580;DP=237;FS=6.392;HRun=6;HaplotypeScore=558.3694;MQ=55.11;MQ0=0;MQRankSum=4.229;QD=12.46;ReadPosRankSum=0.495;SB=-987.25;TI=NM_000414,NM_001199292,NM_001199291;GI=HSD17B4,HSD17B4,HSD17B4;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:129,108:237:99:2992,0,3769:0.456:99 chr5 118877949 rs28943596 A G 2850.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.658;DP=255;Dels=0.00;FS=7.123;HRun=1;HaplotypeScore=12.0242;MQ=55.25;MQ0=0;MQRankSum=4.269;QD=11.18;ReadPosRankSum=0.721;SB=-1389.63;TI=NM_000414,NM_001199292,NM_001199291;GI=HSD17B4,HSD17B4,HSD17B4;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:134,120:255:99:2881,0,3181:0.472:99 chr5 125879822 . G T 40.22 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DP=10;Dels=0.00;FS=10.792;HRun=5;HaplotypeScore=0.8941;MQ=47.68;MQ0=0;MQRankSum=-1.818;QD=4.02;ReadPosRankSum=-2.166;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,3:10:70.21:70,0,246:0.300:40 chr5 125879824 . A T 40.22 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DP=10;Dels=0.00;FS=10.792;HRun=6;HaplotypeScore=0.8941;MQ=47.68;MQ0=0;MQRankSum=-1.818;QD=4.02;ReadPosRankSum=-2.166;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,3:10:70.21:70,0,246:0.300:40 chr5 125879831 . G T 43.23 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.536;DP=12;Dels=0.00;FS=7.404;HRun=6;HaplotypeScore=0.8941;MQ=49.94;MQ0=0;MQRankSum=-1.468;QD=3.60;ReadPosRankSum=-0.825;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,4:12:73.22:73,0,217:0.333:43 chr5 125879839 rs1138005 C T 224.19 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.185;DP=12;Dels=0.00;FS=6.892;HRun=0;HaplotypeScore=0.8941;MQ=49.94;MQ0=0;MQRankSum=2.034;QD=18.68;ReadPosRankSum=2.404;SB=-136.42;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,9:12:70.21:254,0,70:0.750:70 chr5 125879840 . G A 40.22 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.479;DP=12;Dels=0.00;FS=6.892;HRun=0;HaplotypeScore=0.8941;MQ=49.94;MQ0=0;MQRankSum=-2.589;QD=3.35;ReadPosRankSum=-2.589;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,3:12:70.21:70,0,245:0.250:40 chr5 125879843 . G A 40.22 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.109;DP=12;Dels=0.00;FS=6.892;HRun=0;HaplotypeScore=0.0000;MQ=49.94;MQ0=0;MQRankSum=-2.219;QD=3.35;ReadPosRankSum=-2.589;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,3:12:70.21:70,0,246:0.250:40 chr5 125879845 . T C 40.22 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.555;DP=12;Dels=0.00;FS=6.892;HRun=0;HaplotypeScore=0.0000;MQ=49.94;MQ0=0;MQRankSum=-2.589;QD=3.35;ReadPosRankSum=-2.589;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,3:12:70.21:70,0,248:0.250:40 chr5 125879931 rs1060857 G A 922.56 PASS AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.84;MQ0=0;QD=25.63;SB=-545.00;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,36:36:69.22:956,69,0:1.000:69 chr5 125879981 rs7447380 G A 1124.81 PASS AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.84;MQ0=0;QD=25.56;SB=-745.97;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,44:44:81.27:1158,81,0:1.000:81 chr5 125887715 rs12514417 T G 4715.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.540;DP=363;Dels=0.00;FS=0.390;HRun=1;HaplotypeScore=18.1664;MQ=53.58;MQ0=0;MQRankSum=1.750;QD=12.99;ReadPosRankSum=1.254;SB=-3271.85;TI=NM_001182;GI=ALDH7A1;FC=Missense_K439Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:153,209:363:99:4715,0,3123:0.577:99 chr5 125930831 rs1049214 T C 126.78 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.610;DP=93;Dels=0.00;FS=29.526;HRun=2;HaplotypeScore=5.3645;MQ=45.94;MQ0=0;MQRankSum=-5.575;QD=1.36;ReadPosRankSum=-4.613;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Synonymous_G20G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:81,12:93:99:157,0,1904:0.129:99 chr5 125930834 . A T 164.34 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.478;DP=91;Dels=0.00;FS=32.297;HRun=0;HaplotypeScore=6.2586;MQ=45.85;MQ0=0;MQRankSum=-5.513;QD=1.81;ReadPosRankSum=-3.567;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Synonymous_S19S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,12:91:99:194,0,1802:0.133:99 chr5 131705458 rs2631367 C G 517.26 PASS AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=42.36;MQ0=0;QD=24.63;SB=-297.77;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,21:21:39.13:550,39,0:1.000:39 chr5 131705526 rs13180169 G T 391.80 PASS AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=43.89;MQ0=0;QD=19.59;SB=-327.80;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,19:20:30.09:425,30,0:1.000:30 chr5 131705558 rs13180186 G T 291.26 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.32;MQ0=0;QD=26.48;SB=-151.10;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,11:11:24.08:324,24,0:1.000:24 chr5 131705587 rs13180043 C T 544.04 LowDP AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.28;MQ0=0;QD=30.22;SB=-241.32;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,18:18:42.14:577,42,0:1.000:42 chr5 131705588 rs13180295 G A 540.23 LowDP AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.28;MQ0=0;QD=30.01;SB=-241.32;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,18:18:42.14:573,42,0:1.000:42 chr5 131705949 rs2631365;rs61742215 T C 991.77 PASS AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=47.22;MQ0=1;QD=22.04;SB=-761.71;TI=NM_003060;GI=SLC22A5;FC=Synonymous_L95L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,45:45:72.23:1025,72,0:1.000:72 chr5 131721174 rs274558 A G 2435.29 PASS AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4493;MQ=45.90;MQ0=0;QD=25.37;SB=-1797.19;TI=NM_003060;GI=SLC22A5;FC=Synonymous_L269L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,95:96:99:2468,175,0:1.000:99 chr5 131730052 rs67581670 CA C 1140.90 PASS AC=2;AF=1.00;AN=2;DP=30;FS=0.000;HRun=4;HaplotypeScore=29.3879;MQ=58.17;MQ0=0;QD=38.03;SB=-394.25;TI=NM_003060;GI=SLC22A5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,30:30:90.29:1183,90,0:1.000:90 chr5 131730108 . C A 11.83 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.779;DP=21;Dels=0.00;FS=2.969;HRun=1;HaplotypeScore=0.0000;MQ=45.96;MQ0=0;MQRankSum=1.498;QD=0.56;ReadPosRankSum=-1.617;SB=-0.01;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,2:21:41.52:42,0,431:0.095:11 chr5 131730807 rs274548 T C 2155.06 PASS AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.48;MQ0=0;QD=27.28;SB=-1260.70;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,79:79:99:2188,166,0:1.000:99 chr5 131730903 . C CT 138.09 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.220;DP=38;FS=7.806;HRun=17;HaplotypeScore=339.9045;MQ=37.02;MQ0=0;MQRankSum=-1.657;QD=3.63;ReadPosRankSum=1.002;SB=-44.22;TI=NM_003060;GI=SLC22A5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,7:38:78.24:177,0,78:0.219:78 chr5 131730921 . A T 21.82 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-0.644;DP=37;Dels=0.00;FS=1.868;HRun=17;HaplotypeScore=49.8170;MQ=35.80;MQ0=0;MQRankSum=0.555;QD=0.59;ReadPosRankSum=-1.088;SB=-16.94;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,5:37:51.79:52,0,941:0.135:21 chr5 131730923 rs14701 A AC 1302.10 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.932;DP=36;FS=3.680;HRun=0;HaplotypeScore=241.5694;MQ=35.98;MQ0=0;MQRankSum=0.794;QD=36.17;ReadPosRankSum=-0.035;SB=-469.41;TI=NM_003060;GI=SLC22A5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:12,24:36:91.40:1344,91,0:0.667:91 chr5 131731304 rs274547 A T 4528.19 PASS AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7850;MQ=54.73;MQ0=0;QD=25.44;SB=-3058.15;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,178:178:99:4528,316,0:1.000:99 chr5 132204447 rs78523057 AG A 2962.93 PASS AC=2;AF=1.00;AN=2;DP=72;FS=0.000;HRun=2;HaplotypeScore=296.8813;MQ=51.28;MQ0=0;QD=41.15;SB=-1264.89;TI=NM_014402;GI=UQCRQ;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,70:72:99:3005,214,0:0.986:99 chr5 132204467 rs254284 A G 2064.34 PASS AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.64;MQ0=0;QD=25.17;SB=-1556.67;TI=NM_014402;GI=UQCRQ;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,82:82:99:2097,147,0:1.000:99 chr5 138456815 rs3088052 T C 2231.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.720;DP=230;Dels=0.00;FS=5.351;HRun=1;HaplotypeScore=7.2453;MQ=47.72;MQ0=0;MQRankSum=-0.684;QD=9.70;ReadPosRankSum=-1.448;SB=-1568.65;TI=NM_022464,NM_001037633;GI=SIL1,SIL1;FC=Synonymous_T51T,Synonymous_T51T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:126,104:230:99:2262,0,2680:0.452:99 chr5 149360877 rs30832 T C 2532.34 PASS AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5658;MQ=49.19;MQ0=0;QD=26.11;SB=-1784.43;TI=NM_000112;GI=SLC26A2;FC=Missense_I574T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,97:97:99:2565,181,0:1.000:99 chr5 149361221 rs3776070 A T 312.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.789;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;MQRankSum=-0.060;QD=13.02;ReadPosRankSum=-0.358;SB=-196.51;TI=NM_000112;GI=SLC26A2;FC=Missense_T689S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,15:24:99:343,0,209:0.625:99 chr5 149362584 . T TA 14.64 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.274;DP=46;FS=4.638;HRun=13;HaplotypeScore=91.1600;MQ=56.90;MQ0=0;MQRankSum=-0.091;QD=0.32;ReadPosRankSum=0.823;SB=-11.08;TI=NM_000112;GI=SLC26A2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,7:46:53.51:54,0,602:0.175:14 chr5 149364780 rs30833 C T 548.41 LowDP AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.25;MQ0=0;QD=28.86;SB=-316.22;TI=NM_000112;GI=SLC26A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,19:19:42.14:581,42,0:1.000:42 chr5 149365836 rs33921720 GT G 1879.68 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.728;DP=161;FS=1.259;HRun=9;HaplotypeScore=214.8415;MQ=58.11;MQ0=0;MQRankSum=0.081;QD=11.68;ReadPosRankSum=-0.102;SB=-861.13;TI=NM_000112;GI=SLC26A2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,73:161:99:1919,0,1951:0.459:99 chr5 149366714 rs17711997 T C 1780.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.061;DP=154;Dels=0.00;FS=1.283;HRun=1;HaplotypeScore=4.5761;MQ=51.79;MQ0=0;MQRankSum=1.031;QD=11.56;ReadPosRankSum=-2.369;SB=-1358.56;TI=NM_000112;GI=SLC26A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,87:154:99:1811,0,1445:0.565:99 chr5 149366929 rs10476926 G A 1058.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.232;DP=119;Dels=0.00;FS=2.333;HRun=0;HaplotypeScore=4.4430;MQ=48.61;MQ0=0;MQRankSum=-1.232;QD=8.89;ReadPosRankSum=0.061;SB=-910.11;TI=NM_000112;GI=SLC26A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,56:119:99:1088,0,1438:0.471:99 chr5 158742014 rs1368439 G T 7750.97 PASS AC=2;AF=1.00;AN=2;DP=318;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0186;MQ=51.10;MQ0=0;QD=24.37;SB=-5960.69;TI=NM_002187;GI=IL12B;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,317:318:99:7751,539,0:1.000:99 chr5 176721198 rs28580074 T C 4965.02 PASS AC=2;AF=1.00;AN=2;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9148;MQ=49.31;MQ0=0;QD=25.33;SB=-3761.74;TI=NM_172349,NM_022455;GI=NSD1,NSD1;FC=Synonymous_L2008L,Synonymous_L2277L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,195:196:99:4965,346,0:1.000:99 chr5 177419967 rs1800197 C T 593.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.212;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=47.64;MQ0=0;MQRankSum=-1.130;QD=8.35;ReadPosRankSum=-2.301;SB=-450.99;TI=NM_006261;GI=PROP1;FC=Missense_A142T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,31:71:99:623,0,818:0.437:99 chr5 177422876 rs7445271 T C 2588.45 PASS AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7876;MQ=54.25;MQ0=0;QD=24.42;SB=-1628.92;TI=NM_006261;GI=PROP1;FC=Missense_N20S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,104:106:99:2621,184,0:1.000:99 chr6 7563983 rs2806234 T G 8379.86 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.702;DP=341;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2259;MQ=54.38;MQ0=0;MQRankSum=1.092;QD=24.57;ReadPosRankSum=0.757;SB=-6353.90;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_A247A,Synonymous_A247A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,340:341:99:8380,581,0:0.997:99 chr6 7572262 rs2076304 A G 2612.71 PASS AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8835;MQ=46.76;MQ0=0;QD=26.94;SB=-1722.92;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_G697G,Synonymous_G697G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,97:97:99:2646,190,0:1.000:99 chr6 7576527 rs1016835 G A 5584.04 PASS AC=2;AF=1.00;AN=2;DP=221;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7174;MQ=52.24;MQ0=0;QD=25.27;SB=-3931.83;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Unknown_877,Unknown_877;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,220:221:99:5584,397,0:1.000:99 chr6 7584617 rs2076300 C T 442.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.307;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8632;MQ=50.96;MQ0=0;MQRankSum=0.808;QD=9.83;ReadPosRankSum=-1.103;SB=-300.22;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_T2374T,Synonymous_T1775T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,21:45:99:472,0,521:0.467:99 chr6 7585967 rs2744380 G C 888.80 PASS AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=54.11;MQ0=0;QD=26.14;SB=-635.05;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_G2824G,Synonymous_G2225G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,34:34:66.22:922,66,0:1.000:66 chr6 18122506 rs10949483 G A 226.35 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=2.034;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=55.54;MQ0=0;MQRankSum=2.034;QD=17.41;ReadPosRankSum=0.185;SB=-70.31;TI=NM_198586;GI=NHLRC1;FC=Missense_P111L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,9:13:67.82:256,0,68:0.750:67 chr6 24535234 . C T 1094.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.666;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7527;MQ=54.24;MQ0=0;MQRankSum=-0.391;QD=11.52;ReadPosRankSum=-2.334;SB=-682.12;TI=NM_001080,NM_170740;GI=ALDH5A1,ALDH5A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,48:95:99:1124,0,1023:0.505:99 chr6 31827286 rs13118 A T 728.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.360;DP=66;Dels=0.00;FS=0.936;HRun=1;HaplotypeScore=2.7880;MQ=52.81;MQ0=0;MQRankSum=0.758;QD=11.04;ReadPosRankSum=1.837;SB=-487.84;TI=NM_000434;GI=NEU1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,35:66:99:758,0,657:0.530:99 chr6 31973511 rs63749090;rs71563398;rs78933980 G A 2141.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.942;DP=243;Dels=0.00;FS=0.483;HRun=0;HaplotypeScore=9.3177;MQ=42.65;MQ0=8;MQRankSum=-0.127;QD=8.81;ReadPosRankSum=1.950;SB=-1516.90;TI=NM_000500,NM_001128590;GI=CYP21A2,CYP21A2;FC=Missense_A16T,Missense_A16T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:125,116:243:99:2172,0,2454:0.481:99 chr6 31974671 rs28615950;rs59184325 G A 870.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.815;DP=160;Dels=0.00;FS=0.770;HRun=0;HaplotypeScore=6.3579;MQ=35.34;MQ0=63;MQRankSum=-0.641;QD=5.44;ReadPosRankSum=-0.402;SB=-685.29;TI=NM_000500,NM_001128590;GI=CYP21A2,CYP21A2;FC=Missense_R209H,Missense_R179H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:109,51:160:99:900,0,1166:0.319:99 chr6 31974849 . CGAG C 3137.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.498;DP=133;FS=2.241;HRun=0;HaplotypeScore=128.2437;MQ=46.28;MQ0=0;MQRankSum=0.068;QD=23.59;ReadPosRankSum=1.084;SB=-1417.71;TI=NM_000500,NM_001128590;GI=CYP21A2,CYP21A2;FC=1AA_Deletion,1AA_Deletion;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,58:133:99:3176,0,3511:0.443:99 chr6 31975151 rs6471;rs41315836 T G 344.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.007;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2804;MQ=37.99;MQ0=1;MQRankSum=2.046;QD=4.78;ReadPosRankSum=-0.084;SB=-211.28;TI=NM_000500,NM_001128590;GI=CYP21A2,CYP21A2;FC=Missense_L279R,Missense_L249R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,20:72:99:374,0,1109:0.278:99 chr6 31976228 rs1058152 C T 839.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.588;DP=202;Dels=0.00;FS=0.692;HRun=0;HaplotypeScore=9.0141;MQ=33.38;MQ0=74;MQRankSum=-1.875;QD=4.16;ReadPosRankSum=-1.289;SB=-658.70;TI=NM_000500,NM_001128590,NR_001284,NM_032470;GI=CYP21A2,CYP21A2,TNXA,TNXB;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:143,57:202:99:870,0,1710:0.285:99 chr6 39872240 rs3008816 C G 1202.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.690;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=48.10;MQ0=0;MQRankSum=-1.956;QD=9.69;ReadPosRankSum=-3.102;SB=-792.38;TI=NM_015345,NM_005943,NR_033233,NM_001075098;GI=DAAM2,MOCS1,MOCS1,MOCS1;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,58:124:99:1232,0,1419:0.468:99 chr6 39873682 rs41273136 G A 387.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.902;DP=49;Dels=0.00;FS=2.611;HRun=1;HaplotypeScore=3.6998;MQ=51.71;MQ0=0;MQRankSum=-0.356;QD=7.92;ReadPosRankSum=0.315;SB=-265.59;TI=NM_005943,NR_033233,NM_001075098;GI=MOCS1,MOCS1,MOCS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,20:49:99:418,0,706:0.408:99 chr6 39881102 rs7762875 A T 532.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.183;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=39.76;MQ0=0;MQRankSum=1.545;QD=14.38;ReadPosRankSum=1.512;SB=-445.42;TI=NM_005943,NR_033233,NM_001075098;GI=MOCS1,MOCS1,MOCS1;FC=Missense_L239H,Silent,Missense_L239H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,26:37:99:562,0,197:0.703:99 chr6 49398333 rs76854879 G GT 4838.53 PASS AC=2;AF=1.00;AN=2;DP=120;FS=0.000;HRun=1;HaplotypeScore=75.9028;MQ=58.24;MQ0=0;QD=40.32;SB=-2249.47;TI=NM_000255;GI=MUT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,113:120:99:4839,343,0:0.974:99 chr6 49399239 rs71809455 AT A 3004.03 R8 AC=2;AF=1.00;AN=2;BaseQRankSum=-1.355;DP=103;FS=0.000;HRun=10;HaplotypeScore=102.9350;MQ=53.63;MQ0=0;MQRankSum=-0.189;QD=29.17;ReadPosRankSum=-1.732;SB=-1352.78;TI=NM_000255;GI=MUT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,100:103:99:3046,274,0:0.971:99 chr6 49403282 rs8589 T C 3933.77 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.447;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5931;MQ=47.81;MQ0=0;MQRankSum=1.710;QD=24.59;ReadPosRankSum=1.405;SB=-3035.90;TI=NM_000255;GI=MUT;FC=Missense_I671V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,158:160:99:3934,246,0:0.994:99 chr6 49412433 rs1141321 C T 4821.93 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.679;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0401;MQ=51.34;MQ0=0;MQRankSum=1.714;QD=24.73;ReadPosRankSum=1.217;SB=-3558.36;TI=NM_000255;GI=MUT;FC=Missense_R532H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,194:195:99:4822,334,0:0.995:99 chr6 49425521 rs2229384 C T 5409.86 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.060;DP=219;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=14.9267;MQ=52.43;MQ0=0;MQRankSum=0.931;QD=24.70;ReadPosRankSum=0.271;SB=-4054.44;TI=NM_000255;GI=MUT;FC=Synonymous_K212K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,216:219:99:5410,306,0:0.986:99 chr6 49430974 rs3729619 T A 3763.78 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.311;DP=162;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.4964;MQ=46.13;MQ0=0;MQRankSum=0.422;QD=23.23;ReadPosRankSum=-0.653;SB=-2883.99;TI=NM_000255;GI=MUT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,158:162:99:3764,244,0:0.988:99 chr6 51480486 rs2784198 G T 1125.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.296;DP=83;Dels=0.00;FS=5.125;HRun=0;HaplotypeScore=3.7853;MQ=56.25;MQ0=0;MQRankSum=0.169;QD=13.56;ReadPosRankSum=-1.016;SB=-257.20;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,42:83:99:1155,0,986:0.506:99 chr6 51480853 rs2784199 T C 647.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.031;DP=59;Dels=0.00;FS=2.269;HRun=0;HaplotypeScore=1.7882;MQ=52.08;MQ0=0;MQRankSum=1.925;QD=10.98;ReadPosRankSum=-0.266;SB=-513.16;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,32:59:99:678,0,596:0.542:99 chr6 51481315 rs1414504 T C 937.97 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.540;DP=36;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.5254;MQ=49.58;MQ0=0;MQRankSum=-0.770;QD=26.05;ReadPosRankSum=1.636;SB=-496.96;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,35:36:75.23:971,75,0:0.972:75 chr6 51483505 rs2784201 A G 554.39 PASS AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.44;MQ0=0;QD=25.20;SB=-348.92;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,22:22:42.14:587,42,0:1.000:42 chr6 51483961 rs9381994 T C 683.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.424;DP=61;Dels=0.00;FS=2.154;HRun=0;HaplotypeScore=0.0000;MQ=50.67;MQ0=0;MQRankSum=0.427;QD=11.21;ReadPosRankSum=-0.253;SB=-378.98;TI=NM_138694;GI=PKHD1;FC=Missense_Q4048R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,28:61:99:714,0,831:0.459:99 chr6 51491884 rs4715227 T C 3315.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.792;DP=362;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=21.1474;MQ=52.55;MQ0=0;MQRankSum=0.568;QD=9.16;ReadPosRankSum=0.501;SB=-2529.62;TI=NM_138694;GI=PKHD1;FC=Missense_Q3899R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:198,163:362:99:3316,0,4269:0.452:99 chr6 51586771 rs9349593 G A 1069.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.848;DP=104;Dels=0.00;FS=0.751;HRun=0;HaplotypeScore=3.8685;MQ=50.17;MQ0=0;MQRankSum=-0.281;QD=10.28;ReadPosRankSum=-0.300;SB=-612.08;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,47:104:99:1099,0,1289:0.452:99 chr6 51586772 rs45451196 C T 1075.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.385;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9744;MQ=50.17;MQ0=0;MQRankSum=0.392;QD=10.34;ReadPosRankSum=-0.398;SB=-653.65;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,47:104:99:1106,0,1255:0.452:99 chr6 51732807 rs12210295 C T 6248.98 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.446;DP=255;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2724;MQ=52.25;MQ0=0;MQRankSum=1.691;QD=24.51;ReadPosRankSum=0.723;SB=-4590.64;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_G2529G,Synonymous_G2529G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,253:255:99:6249,414,0:0.996:99 chr6 51875250 rs2435322 A C 5295.81 PASS AC=2;AF=1.00;AN=2;DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.3384;MQ=50.33;MQ0=0;QD=25.34;SB=-3709.79;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Missense_L1870V,Missense_L1870V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,209:209:99:5296,373,0:1.000:99 chr6 51890823 rs9296669 G A 890.09 PASS AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.85;MQ0=0;QD=26.97;SB=-594.10;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Missense_A1262V,Missense_A1262V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,33:33:66.21:923,66,0:1.000:66 chr6 51890852 rs9689306 C G 337.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.095;DP=36;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=51.68;MQ0=0;MQRankSum=-1.172;QD=9.38;ReadPosRankSum=-1.172;SB=-261.49;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_L1252L,Synonymous_L1252L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,17:36:99:368,0,414:0.472:99 chr6 51914956 rs9370096 G A 1771.43 PASS AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=48.53;MQ0=0;QD=27.68;SB=-1076.14;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Unknown_760,Unknown_760;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,64:64:99:1804,132,0:1.000:99 chr6 51924774 rs1896976 A G 4876.43 PASS AC=2;AF=1.00;AN=2;DP=194;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=50.93;MQ0=0;QD=25.14;SB=-3705.09;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_D395D,Synonymous_D395D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,194:194:99:4876,340,0:1.000:99 chr6 74303746 . CT C 70.39 R8;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.653;DP=18;FS=2.336;HRun=13;HaplotypeScore=65.7767;MQ=57.39;MQ0=0;MQRankSum=-2.060;QD=3.91;ReadPosRankSum=-1.156;SB=-41.21;TI=NM_012434;GI=SLC17A5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,6:18:99:109,0,198:0.375:70 chr6 74304415 rs3734518 G C 897.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.402;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=49.13;MQ0=0;MQRankSum=0.564;QD=8.16;ReadPosRankSum=-0.732;SB=-758.58;TI=NM_012434;GI=SLC17A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,48:110:99:928,0,1310:0.436:99 chr6 81053642 rs926733 G A 9104.52 PASS AC=2;AF=1.00;AN=2;DP=371;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1582;MQ=54.32;MQ0=0;QD=24.54;SB=-6977.72;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,371:371:99:9105,638,0:1.000:99 chr6 81053716 . TTTG T 12019.02 PASS AC=2;AF=1.00;AN=2;DP=272;FS=0.000;HRun=0;HaplotypeScore=1108.8334;MQ=55.33;MQ0=0;QD=44.19;SB=-3997.58;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:47,225:272:99:12019,686,0:0.827:99 chr6 81053814 rs926732 T C 794.22 PASS AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.7608;MQ=53.51;MQ0=0;QD=25.62;SB=-342.54;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,29:31:60.20:827,60,0:1.000:60 chr6 81053825 rs926731 G A 746.22 PASS AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5658;MQ=54.40;MQ0=0;QD=27.64;SB=-342.38;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,27:27:57.19:779,57,0:1.000:57 chr6 81053866 rs1811844 C T 843.56 PASS AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8924;MQ=47.75;MQ0=0;QD=24.10;SB=-615.55;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,35:35:63.21:877,63,0:1.000:63 chr6 81053916 rs4706116 G T 1457.74 PASS AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=47.80;MQ0=0;QD=23.90;SB=-1049.08;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,61:61:99:1491,105,0:1.000:99 chr6 81054065 . ATTT AT,A 874.40 R8 AC=1,1;AF=0.50,0.50;AN=2;DP=40;FS=0.000;HaplotypeScore=93.9881;MQ=46.89;MQ0=1;QD=21.86;SB=-443.02;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:4,0,6:39:77.24:952,167,77,491,0,459:0.600:77 chr6 81054148 rs4706838 T C 382.02 LowDP AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=47.72;MQ0=1;QD=25.47;SB=-191.22;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,15:15:33.10:415,33,0:1.000:33 chr6 81054252 rs4706117 C T 397.16 LowDP AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.23;MQ0=0;QD=20.90;SB=-344.50;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,19:19:30.10:430,30,0:1.000:30 chr6 81054310 rs4706118 C T 802.90 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.545;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5172;MQ=48.49;MQ0=0;MQRankSum=1.452;QD=21.70;ReadPosRankSum=1.077;SB=-620.38;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,36:37:60.19:836,60,0:0.973:60 chr6 81054326 rs4706839 T C 909.04 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.641;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=48.83;MQ0=0;MQRankSum=-0.456;QD=23.92;ReadPosRankSum=-1.641;SB=-694.64;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,37:38:69.21:942,69,0:0.974:69 chr6 81054515 rs4502885 G A 3230.05 PASS AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1527;MQ=54.61;MQ0=0;QD=25.43;SB=-2125.77;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,127:127:99:3264,232,0:1.000:99 chr6 81054663 rs1042367 C G 7186.70 PASS AC=2;AF=1.00;AN=2;DP=265;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.0464;MQ=56.22;MQ0=0;QD=27.12;SB=-4190.02;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,264:265:99:7187,518,0:1.000:99 chr6 81054762 rs1042368 A G 7967.26 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.684;DP=291;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.5309;MQ=54.60;MQ0=0;MQRankSum=-0.968;QD=27.38;ReadPosRankSum=-0.370;SB=-5058.15;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,289:291:99:7967,572,0:0.997:99 chr6 81054965 rs3805848 T C 7788.54 PASS AC=2;AF=1.00;AN=2;DP=285;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2586;MQ=54.41;MQ0=0;QD=27.33;SB=-4729.45;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,284:285:99:7789,554,0:1.000:99 chr6 81055299 rs7758761 A G 2514.91 PASS AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.37;MQ0=0;QD=24.42;SB=-1907.92;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,103:103:99:2548,178,0:1.000:99 chr6 81055331 rs7740932 T C 2714.41 PASS AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=46.89;MQ0=0;QD=24.24;SB=-1988.17;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,112:112:99:2747,193,0:1.000:99 chr6 81055396 rs7759304 G A 3339.94 PASS AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=47.50;MQ0=0;QD=24.56;SB=-2462.63;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,136:136:99:3340,232,0:1.000:99 chr6 81055413 rs7740958 T C 3403.53 PASS AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.1527;MQ=48.95;MQ0=0;QD=24.84;SB=-2308.62;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,136:137:99:3404,238,0:1.000:99 chr6 81055792 rs15062 G A 9876.41 PASS AC=2;AF=1.00;AN=2;DP=334;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=10.7291;MQ=54.76;MQ0=0;QD=29.57;SB=-4668.72;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,334:334:99:9876,716,0:1.000:99 chr6 81055803 rs10864 C T 9705.39 PASS AC=2;AF=1.00;AN=2;DP=326;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8291;MQ=54.87;MQ0=0;QD=29.77;SB=-4402.02;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,325:326:99:9705,710,0:1.000:99 chr6 97338598 rs1971475 A T 2511.42 PASS AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.49;MQ0=0;QD=27.00;SB=-1726.46;TI=NM_014165;GI=NDUFAF4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,93:93:99:2544,181,0:1.000:99 chr6 97338648 rs10499008 T A 937.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.716;DP=94;Dels=0.00;FS=0.774;HRun=1;HaplotypeScore=5.5708;MQ=54.08;MQ0=0;MQRankSum=2.080;QD=9.97;ReadPosRankSum=0.890;SB=-721.66;TI=NM_014165;GI=NDUFAF4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,44:94:99:967,0,1081:0.468:99 chr6 97339078 rs6684 A G 1918.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.748;DP=149;Dels=0.00;FS=2.083;HRun=0;HaplotypeScore=12.0428;MQ=56.51;MQ0=0;MQRankSum=1.059;QD=12.88;ReadPosRankSum=-0.956;SB=-1148.34;TI=NM_014165;GI=NDUFAF4;FC=Synonymous_L144L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,77:149:99:1949,0,1598:0.520:99 chr6 97339088 rs11402 C T 3805.05 PASS AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.8350;MQ=57.84;MQ0=0;QD=28.61;SB=-2503.83;TI=NM_014165;GI=NDUFAF4;FC=Synonymous_Q140Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,133:133:99:3805,277,0:1.000:99 chr6 102503317 rs2227283 G A 2603.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.820;DP=206;Dels=0.00;FS=4.900;HRun=1;HaplotypeScore=6.5604;MQ=52.57;MQ0=0;MQRankSum=0.556;QD=12.64;ReadPosRankSum=0.724;SB=-1777.87;TI=NM_175768,NM_001166247,NM_021956;GI=GRIK2,GRIK2,GRIK2;FC=Synonymous_E808E,Synonymous_E808E,Synonymous_E808E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,108:206:99:2634,0,2397:0.524:99 chr6 108363511 . G A 12.24 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-2.548;DP=17;Dels=0.00;FS=15.315;HRun=10;HaplotypeScore=0.0000;MQ=42.81;MQ0=0;MQRankSum=-0.849;QD=0.72;ReadPosRankSum=-1.529;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,4:17:41.96:42,0,333:0.235:12 chr6 108363618 . CTT C 215.03 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.350;DP=21;FS=0.000;HRun=19;HaplotypeScore=90.7762;MQ=37.23;MQ0=0;MQRankSum=-1.050;QD=10.24;ReadPosRankSum=-0.750;SB=-124.17;TI=NM_014028;GI=OSTM1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,7:21:65.34:254,0,65:0.538:65 chr6 108363792 . G T 137.84 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.809;DP=34;Dels=0.00;FS=15.431;HRun=5;HaplotypeScore=0.8941;MQ=46.51;MQ0=0;MQRankSum=-3.918;QD=4.05;ReadPosRankSum=-4.046;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,7:34:99:168,0,584:0.206:99 chr6 108363794 . A T 130.09 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.681;DP=34;Dels=0.00;FS=15.431;HRun=6;HaplotypeScore=0.8941;MQ=46.51;MQ0=0;MQRankSum=-3.833;QD=3.83;ReadPosRankSum=-4.046;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,7:34:99:160,0,584:0.206:99 chr6 108363810 . G A 28.51 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.718;DP=40;Dels=0.00;FS=9.587;HRun=1;HaplotypeScore=0.8941;MQ=46.71;MQ0=0;MQRankSum=-3.217;QD=0.71;ReadPosRankSum=-1.458;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,4:40:58.50:58,0,819:0.103:28 chr6 108363811 . T G 28.51 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.695;DP=40;Dels=0.00;FS=9.587;HRun=1;HaplotypeScore=0.8941;MQ=46.71;MQ0=0;MQRankSum=-3.435;QD=0.71;ReadPosRankSum=-1.759;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,5:40:58.49:58,0,825:0.125:28 chr6 108363814 . T C 54.03 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.131;DP=41;Dels=0.00;FS=12.954;HRun=0;HaplotypeScore=0.8941;MQ=47.08;MQ0=0;MQRankSum=-3.446;QD=1.32;ReadPosRankSum=-1.614;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,5:41:84.03:84,0,856:0.122:54 chr6 108363816 . C G 16.56 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.552;DP=44;Dels=0.00;FS=13.143;HRun=0;HaplotypeScore=0.8941;MQ=48.07;MQ0=0;MQRankSum=-3.587;QD=0.38;ReadPosRankSum=-1.220;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,5:44:46.45:46,0,964:0.114:16 chr6 108363817 . A G 13.64 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.318;DP=46;Dels=0.00;FS=13.090;HRun=0;HaplotypeScore=0.8941;MQ=47.65;MQ0=0;MQRankSum=-3.529;QD=0.30;ReadPosRankSum=-0.988;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,5:46:43.44:43,0,1008:0.109:13 chr6 108363820 . A C 37.86 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.326;DP=50;Dels=0.00;FS=12.997;HRun=0;HaplotypeScore=0.8941;MQ=46.88;MQ0=0;MQRankSum=-3.493;QD=0.76;ReadPosRankSum=-1.132;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,5:50:67.86:68,0,1078:0.100:37 chr6 108363824 . T C 31.84 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.268;DP=54;Dels=0.00;FS=12.920;HRun=0;HaplotypeScore=0.0000;MQ=46.22;MQ0=0;MQRankSum=-3.551;QD=0.59;ReadPosRankSum=-2.178;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,5:54:61.83:62,0,1179:0.093:31 chr6 108363826 . T C 13.95 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.047;DP=63;Dels=0.00;FS=16.931;HRun=2;HaplotypeScore=0.0000;MQ=46.19;MQ0=0;MQRankSum=-3.674;QD=0.22;ReadPosRankSum=-1.793;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,5:63:43.77:44,0,1412:0.079:13 chr6 116596247 rs6568924 C T 1606.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.374;DP=129;Dels=0.00;FS=0.687;HRun=0;HaplotypeScore=3.5764;MQ=54.57;MQ0=0;MQRankSum=0.266;QD=12.46;ReadPosRankSum=-0.728;SB=-838.00;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,65:129:99:1637,0,1526:0.504:99 chr6 116596479 rs6568925 T A 1227.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.046;DP=116;Dels=0.00;FS=2.673;HRun=2;HaplotypeScore=6.5589;MQ=57.23;MQ0=0;MQRankSum=0.658;QD=10.58;ReadPosRankSum=-1.157;SB=-578.91;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,52:116:99:1258,0,1731:0.448:99 chr6 116596543 rs6568926 A T 2044.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.028;DP=215;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=11.0461;MQ=53.74;MQ0=0;MQRankSum=0.772;QD=9.51;ReadPosRankSum=0.666;SB=-1546.80;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:117,98:215:99:2075,0,2531:0.456:99 chr6 116596961 . CA C 10.36 LowVariantFreq;R8;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.314;DP=39;FS=6.139;HRun=18;HaplotypeScore=167.1684;MQ=44.53;MQ0=0;MQRankSum=0.910;QD=0.27;ReadPosRankSum=0.788;SB=-0.20;TI=NM_003309;GI=TSPYL1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,5:39:48.97:49,0,242:0.185:10 chr6 116597724 rs10484838 C G 1130.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.309;DP=119;Dels=0.00;FS=1.534;HRun=0;HaplotypeScore=4.6793;MQ=55.03;MQ0=0;MQRankSum=0.744;QD=9.50;ReadPosRankSum=0.277;SB=-587.58;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,51:119:99:1160,0,1609:0.429:99 chr6 116598475 rs1045182 T C 745.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.349;DP=64;Dels=0.00;FS=1.027;HRun=0;HaplotypeScore=2.7880;MQ=56.19;MQ0=0;MQRankSum=1.814;QD=11.64;ReadPosRankSum=1.182;SB=-286.35;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,31:64:99:775,0,871:0.484:99 chr6 116598793 rs10456904 G A 897.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.887;DP=98;Dels=0.00;FS=1.664;HRun=0;HaplotypeScore=5.5591;MQ=52.99;MQ0=0;MQRankSum=1.569;QD=9.16;ReadPosRankSum=1.705;SB=-500.80;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,42:98:99:928,0,1284:0.429:99 chr6 116598853 rs1128261 A G 601.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.206;DP=53;Dels=0.00;FS=1.255;HRun=1;HaplotypeScore=4.6165;MQ=50.46;MQ0=0;MQRankSum=0.581;QD=11.34;ReadPosRankSum=-1.242;SB=-160.23;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,24:53:99:631,0,705:0.453:99 chr6 116599665 rs9400897 T C 202.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.036;DP=21;Dels=0.00;FS=1.922;HRun=3;HaplotypeScore=0.0000;MQ=56.35;MQ0=0;MQRankSum=1.557;QD=9.62;ReadPosRankSum=-2.064;SB=-57.38;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,8:21:99:232,0,287:0.381:99 chr6 116600453 rs3749894 C T 753.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.204;DP=64;Dels=0.00;FS=0.954;HRun=0;HaplotypeScore=2.7041;MQ=58.12;MQ0=0;MQRankSum=-0.531;QD=11.77;ReadPosRankSum=-1.957;SB=-488.02;TI=NM_003309;GI=TSPYL1;FC=Missense_A181T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,34:64:99:783,0,634:0.531:99 chr6 116600465 rs78371471 T TCAC 3915.63 PASS AC=2;AF=1.00;AN=2;DP=72;FS=0.000;HRun=0;HaplotypeScore=157.8993;MQ=56.77;MQ0=0;QD=54.38;SB=-1954.21;TI=NM_003309;GI=TSPYL1;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,67:72:99:3916,211,0:0.931:99 chr6 116600774 rs3749895 C G 485.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DP=41;Dels=0.00;FS=2.747;HRun=2;HaplotypeScore=6.6225;MQ=49.86;MQ0=0;MQRankSum=-1.231;QD=11.85;ReadPosRankSum=-1.368;SB=-257.56;TI=NM_003309;GI=TSPYL1;FC=Missense_A74P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,23:41:99:516,0,351:0.575:99 chr6 116600810 rs3828743 G A 210.93 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.821;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6274;MQ=54.05;MQ0=0;MQRankSum=-1.111;QD=11.72;ReadPosRankSum=0.489;SB=-89.93;TI=NM_003309;GI=TSPYL1;FC=Missense_P62S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,8:18:99:241,0,142:0.444:99 chr6 129381026 rs4404787 C A 8478.27 PASS AC=2;AF=1.00;AN=2;DP=325;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3457;MQ=50.58;MQ0=0;QD=26.09;SB=-5512.18;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_T127T,Synonymous_T127T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,325:325:99:8478,599,0:1.000:99 chr6 129612808 rs1027199 A G 1701.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.853;DP=172;Dels=0.00;FS=0.565;HRun=0;HaplotypeScore=10.7589;MQ=48.86;MQ0=0;MQRankSum=-0.232;QD=9.89;ReadPosRankSum=0.174;SB=-1180.80;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_Q933Q,Synonymous_Q933Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,78:172:99:1731,0,2051:0.453:99 chr6 129762112 rs2297738 G A 1708.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.619;DP=174;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.3855;MQ=50.43;MQ0=0;MQRankSum=-0.938;QD=9.82;ReadPosRankSum=-0.167;SB=-1373.48;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_T2079T,Synonymous_T2079T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:90,84:174:99:1738,0,1802:0.483:99 chr6 129807629 rs6569605 C T 874.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.852;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=47.91;MQ0=0;MQRankSum=-0.057;QD=10.29;ReadPosRankSum=1.431;SB=-602.41;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Missense_A2583V,Missense_A2587V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,40:85:99:905,0,1017:0.471:99 chr6 129807699 rs6569606 G C 825.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.855;DP=84;Dels=0.00;FS=1.751;HRun=0;HaplotypeScore=5.5484;MQ=46.28;MQ0=0;MQRankSum=0.999;QD=9.83;ReadPosRankSum=1.079;SB=-597.17;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_V2606V,Synonymous_V2610V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,40:84:99:856,0,906:0.476:99 chr6 129807714 rs2229850 G A 1163.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.809;DP=95;Dels=0.00;FS=0.788;HRun=2;HaplotypeScore=6.4425;MQ=44.52;MQ0=0;MQRankSum=-2.100;QD=12.25;ReadPosRankSum=-2.822;SB=-945.20;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_P2611P,Synonymous_P2615P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,57:95:99:1194,0,786:0.600:99 chr6 129813053 rs2244008 A G 1427.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.506;DP=145;Dels=0.00;FS=2.158;HRun=0;HaplotypeScore=9.1395;MQ=53.35;MQ0=0;MQRankSum=-0.046;QD=9.84;ReadPosRankSum=2.515;SB=-871.15;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Missense_T2632A,Missense_T2636A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,68:145:99:1457,0,1860:0.472:99 chr6 129837680 . AAAT A 12717.52 PASS AC=2;AF=1.00;AN=2;DP=230;FS=0.000;HRun=0;HaplotypeScore=63.9540;MQ=53.87;MQ0=0;QD=55.29;SB=-6039.32;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:8,221:230:99:12718,662,0:0.965:99 chr6 132212694 rs7754561 A G 669.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.594;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2312;MQ=48.95;MQ0=0;MQRankSum=1.404;QD=7.60;ReadPosRankSum=0.506;SB=-429.92;TI=NM_006208;GI=ENPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,32:88:99:699,0,1136:0.368:99 chr6 132212742 rs7754586 A C 608.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.249;DP=69;Dels=0.00;FS=0.950;HRun=0;HaplotypeScore=5.5758;MQ=46.94;MQ0=0;MQRankSum=0.359;QD=8.82;ReadPosRankSum=3.057;SB=-404.43;TI=NM_006208;GI=ENPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,29:69:99:639,0,857:0.420:99 chr6 132212808 rs7754859 C T 282.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.263;DP=22;Dels=0.00;FS=5.076;HRun=2;HaplotypeScore=0.9947;MQ=40.80;MQ0=0;MQRankSum=1.182;QD=12.83;ReadPosRankSum=-0.591;SB=-134.63;TI=NM_006208;GI=ENPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,11:22:99:312,0,312:0.500:99 chr6 132213623 rs1931006 G C 334.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.405;DP=41;Dels=0.00;FS=1.216;HRun=0;HaplotypeScore=0.0000;MQ=48.95;MQ0=0;MQRankSum=0.591;QD=8.16;ReadPosRankSum=-0.933;SB=-260.50;TI=NM_006208;GI=ENPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,18:41:99:365,0,498:0.439:99 chr6 135606565 rs1052502 G A 1758.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.680;DP=161;Dels=0.00;FS=0.622;HRun=1;HaplotypeScore=5.4426;MQ=54.80;MQ0=0;MQRankSum=1.382;QD=10.92;ReadPosRankSum=0.575;SB=-798.82;TI=NM_001134831,NM_001134830,NM_017651;GI=AHI1,AHI1,AHI1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,74:161:99:1788,0,2360:0.460:99 chr6 135754208 rs2273761 A G 2856.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.144;DP=284;Dels=0.00;FS=1.427;HRun=0;HaplotypeScore=15.0849;MQ=50.71;MQ0=0;MQRankSum=-2.192;QD=10.06;ReadPosRankSum=1.397;SB=-2186.04;TI=NM_001134831,NM_001134830,NM_017651,NM_001134832;GI=AHI1,AHI1,AHI1,AHI1;FC=Synonymous_D741D,Synonymous_D741D,Synonymous_D741D,Synonymous_D741D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:147,137:284:99:2887,0,3117:0.482:99 chr6 137143709 rs1321471 T C 1000.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.463;DP=107;Dels=0.00;FS=2.528;HRun=2;HaplotypeScore=9.1410;MQ=49.73;MQ0=0;MQRankSum=-1.346;QD=9.35;ReadPosRankSum=-0.840;SB=-702.79;TI=NM_000288;GI=PEX7;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,50:107:99:1030,0,1176:0.467:99 chr6 137143748 rs73777751 C T 1150.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.035;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.1764;MQ=49.51;MQ0=0;MQRankSum=0.352;QD=13.86;ReadPosRankSum=1.527;SB=-884.25;TI=NM_000288;GI=PEX7;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,55:83:99:1180,0,547:0.663:99 chr6 137234919 . T TGTA 6854.17 PASS AC=2;AF=1.00;AN=2;DP=115;FS=0.000;HRun=0;HaplotypeScore=286.7823;MQ=55.74;MQ0=0;QD=59.60;SB=-3156.18;TI=NM_000288;GI=PEX7;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,111:115:99:6854,340,0:0.974:99 chr6 137234970 rs1050803 T G 4104.30 PASS AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7868;MQ=51.78;MQ0=0;QD=27.55;SB=-2719.49;TI=NM_000288;GI=PEX7;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,149:149:99:4104,295,0:1.000:99 chr6 137518966 . TA T 256.83 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.451;DP=61;FS=3.667;HRun=14;HaplotypeScore=104.0459;MQ=46.75;MQ0=0;MQRankSum=2.269;QD=4.21;ReadPosRankSum=1.778;SB=-114.65;TI=NM_000416;GI=IFNGR1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,16:61:99:296,0,679:0.314:99 chr6 137519588 rs11914 A C 1292.99 PASS AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.47;MQ0=0;QD=24.87;SB=-928.41;TI=NM_000416;GI=IFNGR1;FC=Synonymous_S350S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,52:52:93.31:1326,93,0:1.000:93 chr6 137540520 rs2234711 A G 1116.52 PASS AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.29;MQ0=0;QD=22.79;SB=-930.69;TI=NM_000416;GI=IFNGR1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,49:49:78.26:1150,78,0:1.000:78 chr6 144508563 rs45574234 G A 437.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.270;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=44.27;MQ0=0;MQRankSum=0.054;QD=12.85;ReadPosRankSum=-0.342;SB=-348.22;TI=NM_003764;GI=STX11;FC=Missense_V267M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,22:34:99:467,0,242:0.647:99 chr6 144508698 rs3734228 G A 517.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.008;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7773;MQ=45.69;MQ0=0;MQRankSum=0.084;QD=8.77;ReadPosRankSum=1.742;SB=-415.58;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,27:59:99:547,0,666:0.458:99 chr6 144509510 rs17073503 T C 306.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.046;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7878;MQ=56.16;MQ0=0;MQRankSum=0.807;QD=6.82;ReadPosRankSum=-0.157;SB=-214.20;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,15:45:99:337,0,716:0.333:99 chr6 144509845 rs11453124 T TA 195.22 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.578;DP=18;FS=0.000;HRun=4;HaplotypeScore=164.4381;MQ=39.79;MQ0=0;MQRankSum=-0.578;QD=10.85;ReadPosRankSum=-1.733;SB=-111.59;TI=NM_003764;GI=STX11;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,6:18:99:234,0,259:0.333:99 chr6 144511720 . CT C 549.96 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.046;DP=113;FS=0.758;HRun=12;HaplotypeScore=169.1808;MQ=51.51;MQ0=0;MQRankSum=2.264;QD=4.87;ReadPosRankSum=0.610;SB=-260.68;TI=NM_003764;GI=STX11;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,29:113:99:589,0,1371:0.287:99 chr6 144512671 . T TA 1676.59 LowGQ;R8 AC=2;AF=1.00;AN=2;BaseQRankSum=-0.978;DP=91;FS=5.243;HRun=11;HaplotypeScore=142.8234;MQ=57.05;MQ0=0;MQRankSum=-0.482;QD=18.42;ReadPosRankSum=0.689;SB=-782.13;TI=NM_003764;GI=STX11;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:12,69:91:21.02:1719,21,0:0.852:21 chr6 144512989 rs6912580 C T 812.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.821;DP=77;Dels=0.00;FS=4.468;HRun=0;HaplotypeScore=1.7882;MQ=51.14;MQ0=0;MQRankSum=0.873;QD=10.55;ReadPosRankSum=-1.496;SB=-602.66;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,39:77:99:842,0,913:0.513:99 chr6 144513001 rs6935462 T A 938.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DP=98;Dels=0.00;FS=1.678;HRun=2;HaplotypeScore=1.7608;MQ=49.79;MQ0=0;MQRankSum=-0.146;QD=9.58;ReadPosRankSum=0.473;SB=-697.50;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,46:98:99:969,0,1198:0.469:99 chr6 146007332 rs35230590 C T 1022.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.331;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=42.99;MQ0=0;MQRankSum=-1.960;QD=9.56;ReadPosRankSum=-1.773;SB=-834.65;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Synonymous_G134G,Synonymous_G134G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,52:107:99:1053,0,1141:0.486:99 chr6 146056476 rs2235482 G C 390.64 LowDP AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=44.51;MQ0=0;QD=22.98;SB=-256.20;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Synonymous_A53A,Synonymous_A53A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,17:17:30.10:424,30,0:1.000:30 chr6 146056681 . C T 199.34 LowGQ;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.474;DP=11;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=0.8321;MQ=37.53;MQ0=0;MQRankSum=0.791;QD=18.12;ReadPosRankSum=1.107;SB=-115.83;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,10:11:12.37:229,0,12:0.909:12 chr6 146056801 rs2072911 G A 1590.75 PASS AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2475;MQ=50.13;MQ0=0;QD=28.41;SB=-687.01;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:56:99:1624,120,0:1.000:99 chr6 146056848 rs2235481 T C 2985.40 PASS AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4737;MQ=52.47;MQ0=0;QD=26.66;SB=-1639.68;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,112:112:99:3018,220,0:1.000:99 chr6 158613374 rs3841147 TA T 374.92 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.131;DP=82;FS=0.905;HRun=13;HaplotypeScore=225.6522;MQ=53.80;MQ0=0;MQRankSum=-0.727;QD=4.57;ReadPosRankSum=-0.196;SB=-152.53;TI=NM_207118;GI=GTF2H5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,22:82:99:414,0,817:0.319:99 chr6 158613603 rs4425618 A C 703.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.680;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53.19;MQ0=0;MQRankSum=-0.227;QD=14.98;ReadPosRankSum=-1.062;SB=-510.24;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,32:47:99:734,0,298:0.696:99 chr6 158613910 rs9457163 G A 235.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.228;DP=21;Dels=0.00;FS=1.871;HRun=0;HaplotypeScore=16.9530;MQ=43.14;MQ0=0;MQRankSum=-0.912;QD=11.21;ReadPosRankSum=-0.228;SB=-112.68;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,9:21:99:265,0,279:0.450:99 chr6 158613927 . G A 12.61 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.241;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=26.8330;MQ=34.83;MQ0=0;MQRankSum=-0.260;QD=0.43;ReadPosRankSum=-2.223;SB=-8.57;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,5:29:42.36:42,0,457:0.172:12 chr6 158614528 rs35508045 G A 722.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.588;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=52.77;MQ0=0;MQRankSum=-0.763;QD=15.71;ReadPosRankSum=0.488;SB=-536.96;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,34:46:99:753,0,255:0.739:99 chr6 158614846 . C T 10.52 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.940;DP=32;Dels=0.00;FS=9.947;HRun=0;HaplotypeScore=0.0000;MQ=44.46;MQ0=0;MQRankSum=-2.457;QD=0.33;ReadPosRankSum=-2.845;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,3:32:40.11:40,0,664:0.094:10 chr6 158614857 . T A 10.53 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.517;DP=32;Dels=0.00;FS=9.473;HRun=5;HaplotypeScore=0.8941;MQ=44.46;MQ0=0;MQRankSum=-2.586;QD=0.33;ReadPosRankSum=-2.845;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,3:32:40.12:40,0,665:0.094:10 chr6 158615926 rs1019682 A T 854.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.506;DP=102;Dels=0.00;FS=1.626;HRun=5;HaplotypeScore=4.6818;MQ=55.56;MQ0=0;MQRankSum=0.269;QD=8.38;ReadPosRankSum=-1.479;SB=-627.31;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,42:102:99:885,0,1391:0.412:99 chr6 158616173 . CT C 117.38 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.649;DP=49;FS=1.162;HRun=15;HaplotypeScore=112.0318;MQ=52.80;MQ0=0;MQRankSum=0.847;QD=2.40;ReadPosRankSum=-0.121;SB=-77.30;TI=NM_207118;GI=GTF2H5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,9:49:99:156,0,471:0.250:99 chr6 158616335 rs10946159 A C 541.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.492;DP=33;Dels=0.00;FS=5.992;HRun=1;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;MQRankSum=1.621;QD=16.41;ReadPosRankSum=1.075;SB=-76.88;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,19:33:99:572,0,336:0.576:99 chr6 158616727 rs1047876 C T 1235.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.283;DP=89;Dels=0.00;FS=0.806;HRun=0;HaplotypeScore=1.7882;MQ=53.49;MQ0=0;MQRankSum=1.893;QD=13.88;ReadPosRankSum=0.136;SB=-743.57;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,49:89:99:1265,0,920:0.551:99 chr6 158616876 rs4354181 A C 1014.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.806;DP=97;Dels=0.00;FS=1.647;HRun=1;HaplotypeScore=12.0907;MQ=53.25;MQ0=0;MQRankSum=-1.784;QD=10.46;ReadPosRankSum=-0.136;SB=-658.59;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,48:97:99:1045,0,1141:0.500:99 chr6 158617572 rs628039 G A 1116.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.028;DP=111;Dels=0.00;FS=1.623;HRun=1;HaplotypeScore=5.4702;MQ=56.82;MQ0=0;MQRankSum=0.514;QD=10.05;ReadPosRankSum=0.508;SB=-646.23;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,49:111:99:1146,0,1529:0.441:99 chr6 158619409 rs599345 G A 5089.19 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.398;DP=194;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=15.5807;MQ=53.47;MQ0=0;MQRankSum=1.247;QD=26.23;ReadPosRankSum=-0.147;SB=-3226.76;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,190:194:99:5089,364,0:0.990:99 chr6 158619713 rs615107 C G 270.29 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.919;DP=14;Dels=0.00;FS=2.836;HRun=0;HaplotypeScore=0.9998;MQ=57.28;MQ0=0;MQRankSum=-0.071;QD=19.31;ReadPosRankSum=-0.919;SB=-65.77;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,10:14:88.44:300,0,88:0.714:88 chr6 158619948 rs71563797 G C 833.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.375;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.74;MQ0=0;MQRankSum=-0.195;QD=10.69;ReadPosRankSum=-0.205;SB=-584.96;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,38:78:99:863,0,953:0.487:99 chr6 161132830 rs1830519 G A 3789.79 PASS AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=56.16;MQ0=0;QD=31.58;SB=-1353.00;TI=NM_001168338,NM_000301;GI=PLG,PLG;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,120:120:99:3790,277,0:1.000:99 chr6 161137779 rs14224 T C 2366.84 PASS AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54.73;MQ0=0;QD=28.86;SB=-1064.74;TI=NM_000301;GI=PLG;FC=Synonymous_C257C;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,82:82:99:2400,175,0:1.000:99 chr6 161139480 rs1130656 C T 2073.23 PASS AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=44.02;MQ0=0;QD=24.68;SB=-1438.80;TI=NM_000301;GI=PLG;FC=Synonymous_F314F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,84:84:99:2106,147,0:1.000:99 chr6 161173946 rs11060 T G 842.53 PASS AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=32.59;MQ0=19;QD=15.05;SB=-482.86;TI=NM_000301;GI=PLG;FC=Synonymous_G762G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:56:63.20:876,63,0:1.000:63 chr6 161174138 rs6690;rs57037765 A G 190.32 LowGQ AC=2;AF=1.00;AN=2;BaseQRankSum=-0.572;DP=85;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=9.09;MQ0=77;MQRankSum=1.589;QD=2.24;ReadPosRankSum=-1.589;SB=-39.19;TI=NM_000301;GI=PLG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:45,40:85:18.06:223,18,0:0.471:18 chr6 161174377 rs4252177 AT A 4827.10 PASS AC=2;AF=1.00;AN=2;DP=128;FS=0.000;HRun=5;HaplotypeScore=75.8393;MQ=50.32;MQ0=0;QD=37.71;SB=-1916.14;TI=NM_000301;GI=PLG;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,126:128:99:4827,379,0:0.992:99 chr6 161174579 rs783169 T C 2535.95 PASS AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.28;MQ0=17;QD=20.29;SB=-1975.72;TI=NM_000301;GI=PLG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:14,111:125:99:2569,178,0:0.888:99 chr6 161174594 rs783168 A G 1839.51 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.755;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=46.01;MQ0=21;MQRankSum=2.080;QD=18.21;ReadPosRankSum=0.663;SB=-1263.63;TI=NM_000301;GI=PLG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:20,81:101:90.68:1873,91,0:0.802:90 chr6 161174658 rs783167;rs80294183 G A 896.69 PASS AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.83;MQ0=17;QD=17.93;SB=-453.97;TI=NM_000301;GI=PLG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:14,36:50:66.22:930,66,0:0.720:66 chr6 161174871 rs11902 C G 1894.22 PASS AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7826;MQ=50.22;MQ0=0;QD=27.06;SB=-1174.77;TI=NM_000301;GI=PLG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,69:70:99:1927,138,0:1.000:99 chr7 286402 . A G 1659.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.715;DP=205;Dels=0.00;FS=2.487;HRun=0;HaplotypeScore=6.5320;MQ=53.08;MQ0=0;MQRankSum=0.068;QD=8.10;ReadPosRankSum=0.477;SB=-1216.25;TI=NM_020223;GI=FAM20C;FC=Synonymous_T295T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:123,82:205:99:1690,0,2549:0.400:99 chr7 22980929 rs35708583 A AAC 4391.02 PASS AC=2;AF=1.00;AN=2;DP=86;FS=0.000;HRun=0;HaplotypeScore=52.6464;MQ=59.23;MQ0=0;QD=51.06;SB=-2091.50;TI=NM_032581;GI=FAM126A;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,83:86:99:4391,253,0:1.000:99 chr7 22981528 rs3815348 T C 1900.11 PASS AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=52.86;MQ0=0;QD=29.23;SB=-1137.03;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,65:65:99:1933,144,0:1.000:99 chr7 22983702 rs4607514 A T 2013.79 PASS AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=46.81;MQ0=0;QD=26.50;SB=-1159.79;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,76:76:99:2047,144,0:1.000:99 chr7 22983890 rs1583511 T C 1942.09 PASS AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50.22;MQ0=0;QD=25.89;SB=-1230.70;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,75:75:99:1975,138,0:1.000:99 chr7 22984772 rs10085448 A C 1919.45 PASS AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.85;MQ0=0;QD=29.53;SB=-1273.14;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,65:65:99:1952,141,0:1.000:99 chr7 22984773 rs60273851 G A 1924.58 PASS AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.85;MQ0=0;QD=29.61;SB=-1264.36;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,65:65:99:1958,141,0:1.000:99 chr7 22984824 rs2286494 T C 3854.30 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.591;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.9398;MQ=50.24;MQ0=0;MQRankSum=1.614;QD=26.04;ReadPosRankSum=1.685;SB=-2583.91;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,146:148:99:3854,254,0:0.993:99 chr7 23015831 rs3735231 T C 2954.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.181;DP=281;Dels=0.00;FS=1.458;HRun=0;HaplotypeScore=6.2312;MQ=53.24;MQ0=0;MQRankSum=0.235;QD=10.51;ReadPosRankSum=-0.792;SB=-1800.40;TI=NM_032581;GI=FAM126A;FC=Synonymous_S208S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:152,128:281:99:2985,0,3535:0.457:99 chr7 50611735 rs6264 T C 2815.05 PASS AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=49.78;MQ0=0;QD=26.07;SB=-1995.77;TI=NM_000790,NM_001082971;GI=DDC,DDC;FC=Missense_M17V,Missense_M17V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,108:108:99:2848,202,0:1.000:99 chr7 50628739 rs3837091 CCTCT C 1584.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.109;DP=57;FS=1.008;HRun=0;HaplotypeScore=48.2871;MQ=48.76;MQ0=0;MQRankSum=-2.514;QD=27.80;ReadPosRankSum=0.774;SB=-687.90;TI=NM_000790,NM_001082971;GI=DDC,DDC;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,28:57:99:1624,0,1729:0.491:99 chr7 65425894 rs9530 A G 1327.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.363;DP=127;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=47.56;MQ0=0;MQRankSum=0.832;QD=10.45;ReadPosRankSum=-1.643;SB=-964.73;TI=NM_000181;GI=GUSB;FC=Missense_L649P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,66:127:99:1357,0,1288:0.520:99 chr7 65447242 rs2279904 C A 610.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.161;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=48.43;MQ0=0;MQRankSum=-1.625;QD=9.54;ReadPosRankSum=0.645;SB=-419.97;TI=NM_000181;GI=GUSB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,31:64:99:641,0,697:0.484:99 chr7 75544455 rs3823884 A C 774.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.601;DP=74;Dels=0.00;FS=1.995;HRun=0;HaplotypeScore=4.2227;MQ=46.54;MQ0=0;MQRankSum=-0.800;QD=10.47;ReadPosRankSum=1.131;SB=-485.34;TI=NM_000941;GI=POR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,37:74:99:805,0,754:0.507:99 chr7 75609677 rs1135612 A G 932.62 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.737;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5102;MQ=46.56;MQ0=0;MQRankSum=-2.954;QD=9.92;ReadPosRankSum=-2.265;SB=-675.17;TI=NM_000941;GI=POR;FC=Synonymous_P129P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,46:94:99:963,0,1019:0.489:99 chr7 75614953 rs2228104 T C 1441.41 PASS AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4154;MQ=48.17;MQ0=0;QD=23.63;SB=-959.44;TI=NM_000941;GI=POR;FC=Synonymous_A485A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,61:61:99:1474,102,0:1.000:99 chr7 75615006 rs1057868 C T 846.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.684;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6266;MQ=49.25;MQ0=0;MQRankSum=1.412;QD=14.85;ReadPosRankSum=1.696;SB=-702.79;TI=NM_000941;GI=POR;FC=Missense_A503V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,41:57:99:876,0,301:0.719:99 chr7 75616105 rs17685 G A 793.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.361;DP=112;Dels=0.00;FS=0.732;HRun=0;HaplotypeScore=6.5345;MQ=44.91;MQ0=0;MQRankSum=-0.396;QD=7.09;ReadPosRankSum=0.319;SB=-643.81;TI=NM_000941;GI=POR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,44:112:99:824,0,1387:0.393:99 chr7 87079406 rs2109505 T A 8248.04 PASS AC=2;AF=1.00;AN=2;DP=323;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=52.94;MQ0=0;QD=25.54;SB=-6198.19;TI=NM_000443,NM_018850,NM_018849;GI=ABCB4,ABCB4,ABCB4;FC=Synonymous_I237I,Synonymous_I237I,Synonymous_I237I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,322:323:99:8248,578,0:1.000:99 chr7 87092185 rs2302387 G A 8205.10 PASS AC=2;AF=1.00;AN=2;DP=267;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.8342;MQ=52.20;MQ0=0;QD=30.73;SB=-3153.14;TI=NM_000443,NM_018850,NM_018849;GI=ABCB4,ABCB4,ABCB4;FC=Synonymous_L59L,Synonymous_L59L,Synonymous_L59L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,267:267:99:8205,596,0:1.000:99 chr7 92131289 rs10278857 G T 2759.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DP=219;Dels=0.00;FS=2.382;HRun=0;HaplotypeScore=12.0595;MQ=51.98;MQ0=0;MQRankSum=1.787;QD=12.60;ReadPosRankSum=0.980;SB=-1611.73;TI=NM_000466;GI=PEX1;FC=Synonymous_G777G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:103,116:219:99:2790,0,2426:0.530:99 chr7 92157802 rs12386703 G C 691.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.117;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=47.83;MQ0=0;MQRankSum=-0.400;QD=12.35;ReadPosRankSum=1.532;SB=-455.09;TI=NM_000466;GI=PEX1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,33:56:99:721,0,456:0.589:99 chr7 94040384 . G C 24.85 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=47.12;MQ0=0;MQRankSum=-1.026;QD=6.21;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_000089;GI=COL1A2;FC=Missense_R423P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:54.83:55,0,69:0.500:24 chr7 94040389 . G T 24.85 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=47.12;MQ0=0;MQRankSum=-1.026;QD=6.21;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_000089;GI=COL1A2;FC=Missense_A425S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:54.83:55,0,69:0.500:24 chr7 94041937 rs412777 A C 259.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.877;DP=61;Dels=0.00;FS=1.121;HRun=3;HaplotypeScore=4.5383;MQ=50.67;MQ0=0;MQRankSum=-1.375;QD=4.25;ReadPosRankSum=-0.491;SB=-186.69;TI=NM_000089;GI=COL1A2;FC=Synonymous_P482P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,17:61:99:289,0,961:0.279:99 chr7 94043239 rs42524 C G 1066.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.314;DP=118;Dels=0.00;FS=2.387;HRun=0;HaplotypeScore=9.4457;MQ=45.85;MQ0=0;MQRankSum=-0.744;QD=9.04;ReadPosRankSum=0.461;SB=-901.87;TI=NM_000089;GI=COL1A2;FC=Missense_P549A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,57:118:99:1097,0,1245:0.487:99 chr7 103112862 rs7811262 C T 807.64 PASS AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.95;MQ0=0;QD=32.31;SB=-276.22;TI=NM_005045,NM_173054;GI=RELN,RELN;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,25:25:63.20:841,63,0:1.000:63 chr7 107559722 rs8721 A T 12330.31 PASS AC=2;AF=1.00;AN=2;DP=437;Dels=0.02;FS=0.000;HRun=7;HaplotypeScore=51.8623;MQ=54.63;MQ0=0;QD=28.22;SB=-7000.35;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,429:430:99:12330,885,0:1.000:99 chr7 107559911 rs4564 G A 6332.77 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.670;DP=223;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1868;MQ=52.85;MQ0=0;MQRankSum=-1.124;QD=28.40;ReadPosRankSum=1.389;SB=-4256.04;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,221:223:99:6333,460,0:0.995:99 chr7 107560191 rs4518 C T 7945.46 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.720;DP=298;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.1264;MQ=54.28;MQ0=0;MQRankSum=-1.627;QD=26.66;ReadPosRankSum=1.557;SB=-5819.63;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,296:298:99:7945,563,0:0.997:99 chr7 107560651 rs7777259 G T 4324.75 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.647;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1460;MQ=50.50;MQ0=0;MQRankSum=-0.181;QD=26.53;ReadPosRankSum=-0.839;SB=-2879.49;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,162:163:99:4325,307,0:0.994:99 chr7 107560682 rs2158835 T C 4325.47 PASS AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0919;MQ=50.62;MQ0=0;QD=26.54;SB=-2683.68;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,162:163:99:4325,310,0:1.000:99 chr7 107561155 rs2108223 T C 4551.56 PASS AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=12.1010;MQ=53.26;MQ0=0;QD=27.09;SB=-3074.84;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,168:168:99:4552,325,0:1.000:99 chr7 107561392 rs8440 G A 5486.62 PASS AC=2;AF=1.00;AN=2;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5604;MQ=52.30;MQ0=0;QD=27.99;SB=-3651.83;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,196:196:99:5487,391,0:1.000:99 chr7 117188736 rs4727853 C A 608.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.163;DP=301;Dels=0.00;FS=6.181;HRun=2;HaplotypeScore=16.3856;MQ=43.08;MQ0=22;MQRankSum=-10.713;QD=2.02;ReadPosRankSum=-1.277;SB=-170.22;TI=NM_000492;GI=CFTR;FC=Missense_N417K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:220,81:301:99:639,0,4697:0.269:99 chr7 117188750 . C T 291.53 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.363;DP=305;Dels=0.00;FS=14.576;HRun=2;HaplotypeScore=21.8304;MQ=43.05;MQ0=26;MQRankSum=-9.476;QD=0.96;ReadPosRankSum=3.094;SB=-0.01;TI=NM_000492;GI=CFTR;FC=Missense_S422F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:243,61:305:99:322,0,5093:0.201:99 chr7 117188797 rs74935724 A G 275.54 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.837;DP=317;Dels=0.00;FS=19.327;HRun=0;HaplotypeScore=20.5532;MQ=42.83;MQ0=45;MQRankSum=-9.344;QD=0.87;ReadPosRankSum=3.316;SB=-0.01;TI=NM_000492;GI=CFTR;FC=Missense_T438A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:255,61:317:99:306,0,5153:0.193:99 chr7 117188850 rs79074685 G T 95.90 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.181;DP=169;Dels=0.00;FS=7.916;HRun=0;HaplotypeScore=24.7905;MQ=48.63;MQ0=16;MQRankSum=-6.797;QD=0.57;ReadPosRankSum=-2.453;SB=-0.01;TI=NM_000492;GI=CFTR;FC=Synonymous_A455A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:145,24:169:99:126,0,3576:0.142:95 chr7 117199533 rs213950 G A 1956.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.754;DP=203;Dels=0.00;FS=1.746;HRun=0;HaplotypeScore=8.1474;MQ=55.31;MQ0=0;MQRankSum=0.097;QD=9.64;ReadPosRankSum=1.445;SB=-1355.12;TI=NM_000492;GI=CFTR;FC=Missense_V470M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:113,89:203:99:1987,0,2519:0.441:99 chr7 117235055 rs1042077 T G 2615.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.309;DP=240;Dels=0.00;FS=0.994;HRun=1;HaplotypeScore=14.0427;MQ=50.48;MQ0=0;MQRankSum=-0.440;QD=10.90;ReadPosRankSum=0.391;SB=-1890.40;TI=NM_000492;GI=CFTR;FC=Synonymous_T854T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:118,122:240:99:2645,0,2410:0.508:99 chr8 1711918 rs71499040 G C 47.51 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.380;DP=6;Dels=0.00;FS=3.310;HRun=1;HaplotypeScore=0.0000;MQ=51.12;MQ0=0;MQRankSum=0.720;QD=7.92;ReadPosRankSum=0.720;SB=-69.87;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,4:6:59.19:78,0,59:0.667:47 chr8 1729217 rs11778824 C T 6959.12 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.584;DP=296;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=10.0096;MQ=46.63;MQ0=0;MQRankSum=2.176;QD=23.51;ReadPosRankSum=1.529;SB=-5617.48;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,294:296:99:6959,443,0:0.993:99 chr8 1729514 rs1137514 A G 74.09 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.354;DP=15;Dels=0.00;FS=7.549;HRun=1;HaplotypeScore=7.5060;MQ=32.88;MQ0=0;MQRankSum=1.768;QD=4.94;ReadPosRankSum=1.485;SB=-40.30;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,4:15:99:104,0,278:0.286:74 chr8 1729582 rs75602222 C CTGG 383.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.670;DP=23;FS=1.719;HRun=0;HaplotypeScore=50.6752;MQ=36.52;MQ0=0;MQRankSum=-0.249;QD=16.69;ReadPosRankSum=-0.107;SB=-177.00;TI=NM_018941;GI=CLN8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,7:23:99:423,0,621:0.318:99 chr8 1729701 . G GT 363.18 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.448;DP=165;FS=5.900;HRun=14;HaplotypeScore=247.5989;MQ=50.72;MQ0=0;MQRankSum=2.740;QD=2.20;ReadPosRankSum=-1.956;SB=-191.40;TI=NM_018941;GI=CLN8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,36:165:99:402,0,1966:0.269:99 chr8 1730119 rs10638018 T TTG 693.23 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.423;DP=88;FS=2.062;HRun=0;HaplotypeScore=166.0559;MQ=44.68;MQ0=0;MQRankSum=0.032;QD=7.88;ReadPosRankSum=0.791;SB=-315.54;TI=NM_018941;GI=CLN8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,20:88:76.67:732,0,77:0.267:76 chr8 1730228 . T C 3869.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.534;DP=373;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=31.1297;MQ=47.53;MQ0=0;MQRankSum=-1.671;QD=10.37;ReadPosRankSum=2.235;SB=-2687.40;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:185,184:373:99:3870,0,3859:0.499:99 chr8 1730694 rs78155116 A C 2201.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.045;DP=209;Dels=0.00;FS=0.513;HRun=0;HaplotypeScore=10.9951;MQ=46.78;MQ0=0;MQRankSum=-1.052;QD=10.53;ReadPosRankSum=-1.559;SB=-1692.84;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,109:209:99:2231,0,2082:0.524:99 chr8 1731502 . A T 2016.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.552;DP=198;Dels=0.00;FS=0.526;HRun=0;HaplotypeScore=8.1236;MQ=50.55;MQ0=0;MQRankSum=4.645;QD=10.19;ReadPosRankSum=-0.216;SB=-1430.92;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:103,95:198:99:2047,0,2154:0.480:99 chr8 1731855 rs10089616 C T 1511.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.243;DP=161;Dels=0.00;FS=0.594;HRun=0;HaplotypeScore=5.3645;MQ=50.09;MQ0=0;MQRankSum=-1.164;QD=9.39;ReadPosRankSum=0.620;SB=-969.71;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,72:161:99:1541,0,1949:0.447:99 chr8 1732125 . G C 626.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.326;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=49.18;MQ0=0;MQRankSum=0.463;QD=14.91;ReadPosRankSum=-0.463;SB=-459.92;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,29:42:99:656,0,259:0.690:99 chr8 1732224 rs10089222 G C 93.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.129;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.51;MQ0=0;MQRankSum=-0.506;QD=4.45;ReadPosRankSum=-0.740;SB=-38.86;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,6:21:99:123,0,344:0.286:93 chr8 1732407 rs55742804 C T 281.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.269;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=47.57;MQ0=0;MQRankSum=-0.200;QD=12.81;ReadPosRankSum=-0.134;SB=-151.65;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,13:22:99:312,0,213:0.591:99 chr8 1732450 . CAA C 109.72 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.083;DP=52;FS=0.000;HRun=13;HaplotypeScore=210.8736;MQ=46.32;MQ0=0;MQRankSum=-0.028;QD=2.11;ReadPosRankSum=-0.609;SB=-64.37;TI=NM_018941;GI=CLN8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,6:52:99:149,0,1133:0.143:99 chr8 1732580 rs7827009 C G 2673.52 PASS AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6469;MQ=45.74;MQ0=0;QD=23.87;SB=-2125.40;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,110:112:99:2707,190,0:1.000:99 chr8 1732756 rs7827285 C A 3757.62 PASS AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7291;MQ=48.28;MQ0=0;QD=23.63;SB=-3085.16;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,158:159:99:3758,259,0:1.000:99 chr8 1733055 . C T 443.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.314;DP=59;Dels=0.00;FS=0.997;HRun=0;HaplotypeScore=1.7608;MQ=44.33;MQ0=0;MQRankSum=-1.020;QD=7.52;ReadPosRankSum=-2.078;SB=-343.16;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,25:59:99:474,0,761:0.424:99 chr8 1733124 . G A 960.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.175;DP=84;Dels=0.00;FS=2.909;HRun=0;HaplotypeScore=2.7848;MQ=47.94;MQ0=0;MQRankSum=-3.363;QD=11.43;ReadPosRankSum=0.726;SB=-669.99;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,45:84:99:990,0,775:0.536:99 chr8 1733159 . TG T 1853.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.612;DP=103;FS=0.732;HRun=4;HaplotypeScore=249.8157;MQ=48.32;MQ0=0;MQRankSum=-3.413;QD=17.99;ReadPosRankSum=-3.144;SB=-937.71;TI=NM_018941;GI=CLN8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,55:103:99:1892,0,1431:0.534:99 chr8 1733528 . G A 155.62 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-1.216;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0790;MQ=25.48;MQ0=37;MQRankSum=2.040;QD=2.22;ReadPosRankSum=2.302;SB=-97.26;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,13:70:99:186,0,163:0.186:99 chr8 1733549 rs60475454 A T 126.40 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-1.942;DP=76;Dels=0.00;FS=5.434;HRun=2;HaplotypeScore=8.8860;MQ=22.27;MQ0=48;MQRankSum=2.230;QD=1.66;ReadPosRankSum=1.558;SB=-59.62;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,12:76:99:156,0,149:0.158:99 chr8 1733701 rs11136425 A G 40.83 LowGQ;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=9;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0873;MQ=18.02;MQ0=1;MQRankSum=0.572;QD=4.54;ReadPosRankSum=0.572;SB=-27.70;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,6:9:15.67:71,0,16:0.750:15 chr8 1733881 . T G 109.38 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.668;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=39.46;MQ0=0;MQRankSum=0.676;QD=10.94;ReadPosRankSum=0.336;SB=-64.42;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,5:10:65.27:139,0,65:0.500:65 chr8 1734452 rs3812477 C G 1727.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.425;DP=166;Dels=0.00;FS=3.862;HRun=0;HaplotypeScore=10.2691;MQ=50.76;MQ0=0;MQRankSum=-1.153;QD=10.41;ReadPosRankSum=-0.170;SB=-937.74;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:88,78:166:99:1757,0,2258:0.470:99 chr8 15397820 rs12550009 C T 433.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.237;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7328;MQ=47.88;MQ0=0;MQRankSum=0.537;QD=7.89;ReadPosRankSum=0.128;SB=-315.45;TI=NM_006765,NM_178234;GI=TUSC3,TUSC3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,23:55:99:464,0,695:0.418:99 chr8 27661085 rs62498042 G A 1502.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.964;DP=134;Dels=0.00;FS=3.220;HRun=0;HaplotypeScore=11.4821;MQ=48.53;MQ0=0;MQRankSum=0.788;QD=11.21;ReadPosRankSum=-1.452;SB=-866.35;TI=NM_001017420;GI=ESCO2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,61:134:99:1532,0,1714:0.459:99 chr8 27661421 . AT A 361.45 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.667;DP=218;FS=1.095;HRun=15;HaplotypeScore=459.1617;MQ=50.67;MQ0=0;MQRankSum=0.562;QD=1.66;ReadPosRankSum=1.376;SB=-142.88;TI=NM_001017420;GI=ESCO2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:141,40:218:99:400,0,2759:0.221:99 chr8 38000267 rs3990403 T C 126.60 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=4;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.65;SB=-0.01;TI=NM_000349;GI=STAR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,4:4:12.04:159,12,0:1.000:12 chr8 38000823 . AT A 76.75 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.815;DP=24;FS=4.786;HRun=19;HaplotypeScore=96.5821;MQ=44.26;MQ0=0;MQRankSum=1.359;QD=3.20;ReadPosRankSum=0.181;SB=-23.11;TI=NM_000349;GI=STAR;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,7:24:80.75:116,0,81:0.318:76 chr8 38005835 rs2229620 T C 1032.34 PASS AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4156;MQ=45.78;MQ0=0;QD=23.46;SB=-804.17;TI=NM_000349;GI=STAR;FC=Synonymous_L63L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,44:44:75.24:1065,75,0:1.000:75 chr8 43054553 rs1126058 T C 3535.51 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.708;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4941;MQ=49.96;MQ0=0;MQRankSum=-1.000;QD=24.90;ReadPosRankSum=-0.317;SB=-2466.99;TI=NM_152419;GI=HGSNAT;FC=Synonymous_Y583Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,141:142:99:3535,247,0:0.993:99 chr8 43056513 rs3739431 T C 541.11 PASS AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=40.50;MQ0=0;QD=21.64;SB=-341.72;TI=NM_152419;GI=HGSNAT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,25:25:42.13:574,42,0:1.000:42 chr8 63972324 rs6472068 C T 1654.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.301;DP=191;Dels=0.00;FS=0.555;HRun=0;HaplotypeScore=1.9995;MQ=52.66;MQ0=0;MQRankSum=2.738;QD=8.66;ReadPosRankSum=0.964;SB=-954.17;TI=NM_000370;GI=TTPA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:116,75:191:99:1685,0,2648:0.393:99 chr8 63972718 rs4587328 C T 6230.14 PASS AC=2;AF=1.00;AN=2;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=56.33;MQ0=0;QD=31.00;SB=-2467.23;TI=NM_000370;GI=TTPA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,201:201:99:6230,460,0:1.000:99 chr8 63973232 . GAAA G 7992.92 R8 AC=2;AF=1.00;AN=2;DP=205;FS=0.000;HRun=15;HaplotypeScore=302.0666;MQ=48.36;MQ0=0;QD=38.99;SB=-2712.64;TI=NM_000370;GI=TTPA;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:12,151:205:99:7993,527,0:0.926:99 chr8 75262798 rs7828201 G C 3429.19 PASS AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.0288;MQ=49.08;MQ0=0;QD=23.17;SB=-2764.60;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Synonymous_S34S,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,148:148:99:3429,235,0:1.000:99 chr8 75274141 rs11554166 T G 3850.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.064;DP=349;Dels=0.00;FS=0.389;HRun=1;HaplotypeScore=13.6081;MQ=51.81;MQ0=0;MQRankSum=3.586;QD=11.03;ReadPosRankSum=-0.532;SB=-2868.39;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Synonymous_S169S,Synonymous_S101S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:169,180:349:99:3850,0,3452:0.516:99 chr8 75276959 rs1135715 A G 1808.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.076;DP=157;Dels=0.00;FS=2.816;HRun=0;HaplotypeScore=7.3475;MQ=47.73;MQ0=0;MQRankSum=0.249;QD=11.52;ReadPosRankSum=0.489;SB=-1446.37;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,87:157:99:1838,0,1492:0.554:99 chr8 75277399 rs7007283 A G 2932.61 PASS AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.3371;MQ=51.36;MQ0=0;QD=27.67;SB=-1533.60;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,106:106:99:2966,214,0:1.000:99 chr8 75277432 rs4737414 C G 1583.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.257;DP=151;Dels=0.00;FS=3.859;HRun=0;HaplotypeScore=10.7970;MQ=53.39;MQ0=0;MQRankSum=1.490;QD=10.49;ReadPosRankSum=-0.727;SB=-1237.86;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:74,76:151:99:1614,0,1649:0.507:99 chr8 75278457 rs6472842 A G 2580.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.649;DP=213;Dels=0.00;FS=1.722;HRun=0;HaplotypeScore=6.3539;MQ=56.26;MQ0=0;MQRankSum=0.613;QD=12.12;ReadPosRankSum=-1.289;SB=-1392.55;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,106:213:99:2611,0,2923:0.498:99 chr8 75278480 rs16938896 G T 2640.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.043;DP=200;Dels=0.00;FS=5.987;HRun=3;HaplotypeScore=15.3052;MQ=56.21;MQ0=0;MQRankSum=0.198;QD=13.20;ReadPosRankSum=1.249;SB=-1300.78;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,101:200:99:2670,0,2362:0.505:99 chr8 75278816 rs10504580 A G 2375.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.995;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=50.75;MQ0=0;MQRankSum=-0.615;QD=10.95;ReadPosRankSum=-0.471;SB=-1185.28;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:116,101:217:99:2405,0,2660:0.465:99 chr8 75279333 rs71563287 C CAA 993.53 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DP=80;FS=3.981;HRun=15;HaplotypeScore=202.3535;MQ=49.51;MQ0=1;MQRankSum=0.348;QD=12.42;ReadPosRankSum=0.384;SB=-266.99;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Splicing,Splicing;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,33:79:99:1033,0,453:0.532:99 chr8 86389403 rs703 T C 1073.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.096;DP=152;Dels=0.00;FS=3.937;HRun=2;HaplotypeScore=3.7853;MQ=46.61;MQ0=0;MQRankSum=0.091;QD=7.06;ReadPosRankSum=0.152;SB=-793.65;TI=NM_000067;GI=CA2;FC=Synonymous_L188L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,57:152:99:1104,0,2056:0.375:99 chr8 94808165 rs3134031 A G 7723.71 PASS AC=2;AF=1.00;AN=2;DP=268;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6655;MQ=53.92;MQ0=0;QD=28.82;SB=-5130.07;TI=NM_001142301,NM_153704,NR_024522;GI=TMEM67,TMEM67,TMEM67;FC=Missense_I523V,Missense_I604V,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,268:268:99:7724,563,0:1.000:99 chr8 94831346 rs3133973 G A 7324.09 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.573;DP=264;Dels=0.00;FS=4.461;HRun=2;HaplotypeScore=11.3365;MQ=55.40;MQ0=0;MQRankSum=0.740;QD=27.74;ReadPosRankSum=1.243;SB=-3564.52;TI=NR_024522;GI=TMEM67;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,261:264:99:7324,526,0:0.996:99 chr8 94935937 rs4735258 T C 1627.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.542;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3590;MQ=50.75;MQ0=0;MQRankSum=-0.410;QD=9.57;ReadPosRankSum=2.911;SB=-1330.15;TI=NM_018444,NM_001161780,NM_001161779,NM_001161781,NM_001161778;GI=PDP1,PDP1,PDP1,PDP1,PDP1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:88,82:170:99:1657,0,1884:0.482:99 chr8 94936532 rs911 G C 754.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.041;DP=63;Dels=0.00;FS=3.611;HRun=0;HaplotypeScore=5.5462;MQ=57.14;MQ0=0;MQRankSum=0.283;QD=11.97;ReadPosRankSum=0.145;SB=-442.39;TI=NM_018444,NM_001161780,NM_001161779,NM_001161781,NM_001161778;GI=PDP1,PDP1,PDP1,PDP1,PDP1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,29:63:99:784,0,1042:0.460:99 chr8 94937549 . GT G 24.29 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.208;DP=24;FS=0.000;HRun=13;HaplotypeScore=83.8018;MQ=49.43;MQ0=0;MQRankSum=1.493;QD=1.01;ReadPosRankSum=-0.782;SB=-18.38;TI=NM_018444,NM_001161780,NM_001161779,NM_001161781,NM_001161778;GI=PDP1,PDP1,PDP1,PDP1,PDP1;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,5:24:63.31:63,0,332:0.250:24 chr8 100888141 rs71572048 C CCAA 999.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.336;DP=42;FS=0.000;HRun=0;HaplotypeScore=24.1120;MQ=49.81;MQ0=0;MQRankSum=-0.336;QD=23.80;ReadPosRankSum=0.482;SB=-464.66;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,21:42:99:1039,0,924:0.525:99 chr8 100888322 rs10537000 CTAT C 830.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.991;DP=56;FS=1.105;HRun=0;HaplotypeScore=12.4955;MQ=42.76;MQ0=0;MQRankSum=1.044;QD=14.83;ReadPosRankSum=1.447;SB=-377.10;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,18:56:99:869,0,2022:0.321:99 chr8 100888489 rs35963691 C CTT 949.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.228;DP=70;FS=11.363;HRun=3;HaplotypeScore=61.6070;MQ=50.75;MQ0=0;MQRankSum=-1.829;QD=13.57;ReadPosRankSum=1.554;SB=-209.22;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,24:70:99:989,0,1951:0.348:99 chr8 100888595 . A AT 2444.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.835;DP=163;FS=1.237;HRun=1;HaplotypeScore=112.6171;MQ=51.94;MQ0=0;MQRankSum=4.228;QD=15.00;ReadPosRankSum=1.956;SB=-1213.97;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,68:163:99:2484,0,3316:0.417:99 chr8 100889677 rs7157 C T 641.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.360;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7605;MQ=52.90;MQ0=0;MQRankSum=-0.008;QD=11.26;ReadPosRankSum=1.510;SB=-372.32;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,27:57:99:672,0,714:0.474:99 chr8 103218466 . T TA 944.66 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.463;DP=93;FS=0.790;HRun=9;HaplotypeScore=46.7201;MQ=54.76;MQ0=0;MQRankSum=3.865;QD=10.16;ReadPosRankSum=1.753;SB=-439.34;TI=NM_001172477,NM_001172478,NM_015713;GI=RRM2B,RRM2B,RRM2B;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,42:93:99:984,0,1100:0.462:99 chr8 103218873 rs1265116 C G 1138.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.726;DP=74;Dels=0.00;FS=2.085;HRun=0;HaplotypeScore=0.0000;MQ=53.63;MQ0=0;MQRankSum=1.151;QD=15.38;ReadPosRankSum=0.224;SB=-442.05;TI=NM_001172477,NM_001172478,NM_015713;GI=RRM2B,RRM2B,RRM2B;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,42:74:99:1168,0,841:0.568:99 chr8 103220351 rs59015244 A G 4492.22 PASS AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0468;MQ=53.35;MQ0=0;QD=29.95;SB=-2426.37;TI=NM_001172477,NM_001172478,NM_015713;GI=RRM2B,RRM2B,RRM2B;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,150:150:99:4492,328,0:1.000:99 chr8 119938782 rs2228568 T C 1731.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.812;DP=184;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9992;MQ=50.18;MQ0=0;MQRankSum=2.708;QD=9.41;ReadPosRankSum=1.553;SB=-1298.91;TI=NM_002546;GI=TNFRSF11B;FC=Synonymous_L256L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:102,82:184:99:1761,0,2208:0.446:99 chr8 119964052 rs2073618 G C 1121.72 PASS AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=45.21;MQ0=0;QD=23.37;SB=-906.01;TI=NM_002546;GI=TNFRSF11B;FC=Missense_N3K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,47:48:81.27:1155,81,0:1.000:81 chr8 119964283 rs2073617 G A 1220.90 PASS AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=53.06;MQ0=0;QD=24.92;SB=-809.09;TI=NM_002546;GI=TNFRSF11B;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,49:49:90.28:1254,90,0:1.000:90 chr8 141263015 rs11166965 G A 1462.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.476;DP=164;Dels=0.00;FS=5.743;HRun=0;HaplotypeScore=4.4704;MQ=51.46;MQ0=0;MQRankSum=0.786;QD=8.92;ReadPosRankSum=-0.436;SB=-913.59;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Synonymous_G764G,Synonymous_G862G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:96,68:164:99:1492,0,2214:0.415:99 chr8 141460918 rs57593250 C T 720.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.559;DP=77;Dels=0.00;FS=5.963;HRun=5;HaplotypeScore=2.8936;MQ=47.85;MQ0=0;MQRankSum=0.528;QD=9.36;ReadPosRankSum=0.795;SB=-405.20;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Synonymous_K185K,Synonymous_K283K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,34:77:99:751,0,978:0.442:99 chr8 141461074 rs61739560 A G 139.50 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DP=16;Dels=0.00;FS=9.756;HRun=1;HaplotypeScore=0.0000;MQ=52.57;MQ0=0;MQRankSum=-1.059;QD=8.72;ReadPosRankSum=0.000;SB=-87.55;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Synonymous_A133A,Synonymous_A231A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,7:16:99:169,0,280:0.438:99 chr8 141461116 rs34457678 C T 556.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.067;DP=51;Dels=0.00;FS=2.381;HRun=0;HaplotypeScore=4.6543;MQ=43.01;MQ0=0;MQRankSum=-0.048;QD=10.90;ReadPosRankSum=-2.444;SB=-475.15;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Synonymous_G119G,Synonymous_G217G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,29:51:99:586,0,441:0.569:99 chr8 141461185 rs63648764 A G 624.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.609;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=40.82;MQ0=0;MQRankSum=-0.431;QD=10.41;ReadPosRankSum=1.055;SB=-539.03;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Synonymous_F96F,Synonymous_F194F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,33:60:99:655,0,529:0.550:99 chr8 141467840 rs2948172 T G 321.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.489;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8934;MQ=47.92;MQ0=0;MQRankSum=2.345;QD=8.94;ReadPosRankSum=-0.254;SB=-234.38;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,17:36:99:352,0,413:0.472:99 chr8 141467847 rs7002400 G A 295.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.057;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9993;MQ=49.98;MQ0=0;MQRankSum=2.959;QD=9.24;ReadPosRankSum=-0.207;SB=-213.48;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,16:32:99:326,0,361:0.500:99 chr8 143953937 rs4736312 A C 1770.23 PASS AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.96;MQ0=0;QD=29.50;SB=-1035.57;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,60:60:99:1803,132,0:1.000:99 chr8 143954223 rs1134096 C A 1842.84 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.33;MQ0=0;QD=27.51;SB=-1199.52;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:67:99:1876,132,0:1.000:99 chr8 143954290 rs1134095 G A 2961.97 PASS AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.7608;MQ=47.51;MQ0=0;QD=25.10;SB=-2196.70;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,118:118:99:2995,208,0:1.000:99 chr8 143954747 rs7003319 T C 1683.37 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.681;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5082;MQ=47.15;MQ0=0;MQRankSum=-1.528;QD=24.40;ReadPosRankSum=1.223;SB=-1205.51;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,67:69:99:1716,120,0:0.985:99 chr8 143954769 rs5017238 G A 1297.74 PASS AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=47.67;MQ0=0;QD=27.04;SB=-705.25;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,48:48:96.31:1331,96,0:1.000:96 chr8 143955051 rs5304;rs72552270 C T 1127.56 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.193;DP=48;Dels=0.00;FS=3.745;HRun=1;HaplotypeScore=1.9866;MQ=50.95;MQ0=3;MQRankSum=1.655;QD=23.49;ReadPosRankSum=0.346;SB=-683.02;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,47:48:59.61:1161,60,0:0.979:59 chr8 143955095 rs5303 A G 478.45 PASS AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.14;MQ0=0;QD=23.92;SB=-344.86;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,20:20:36.12:511,36,0:1.000:36 chr8 143955273 rs5301 T C 340.51 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.10;MQ0=0;QD=20.03;SB=-307.30;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,17:17:27.08:374,27,0:1.000:27 chr8 143955318 rs12543598 T G 35.09 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=47.12;MQ0=0;QD=17.55;SB=-0.01;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.01:66,6,0:1.000:6 chr8 143955471 rs5299 T C 97.51 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.55;MQ0=0;QD=19.50;SB=-80.66;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:5:9.03:130,9,0:1.000:9 chr8 143960597 rs5283 G A 1068.10 PASS AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=44.18;MQ0=0;QD=23.74;SB=-772.97;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Synonymous_D82D,Synonymous_D82D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,45:45:78.26:1101,78,0:1.000:78 chr8 143961005 rs6410 T C 1642.90 PASS AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=43.18;MQ0=0;QD=22.82;SB=-1340.66;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Synonymous_L75L,Synonymous_L75L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,72:72:99:1676,114,0:1.000:99 chr8 144989466 . G A 114.53 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.550;DP=7;Dels=0.00;FS=3.680;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=16.36;ReadPosRankSum=-0.550;SB=-0.01;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,4:7:67.36:145,0,67:0.571:67 chr8 144992900 rs17062686 G A 360.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.913;DP=49;Dels=0.00;FS=1.117;HRun=1;HaplotypeScore=2.6000;MQ=46.50;MQ0=0;MQRankSum=1.385;QD=7.35;ReadPosRankSum=0.585;SB=-282.46;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_L3697L,Synonymous_L3701L,Synonymous_L3697L,Synonymous_L3665L,Synonymous_L3834L,Synonymous_L3675L,Synonymous_L3683L,Synonymous_L3724L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,19:49:99:390,0,615:0.388:99 chr8 144995964 rs35139934 G A 434.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.286;DP=25;Dels=0.00;FS=4.471;HRun=0;HaplotypeScore=0.9933;MQ=50.29;MQ0=0;MQRankSum=1.368;QD=17.40;ReadPosRankSum=0.223;SB=-268.18;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_G2675G,Synonymous_G2679G,Synonymous_G2675G,Synonymous_G2643G,Synonymous_G2812G,Synonymous_G2653G,Synonymous_G2661G,Synonymous_G2702G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,19:25:99:465,0,123:0.760:99 chr8 144999426 . C G 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DP=8;Dels=0.00;FS=3.332;HRun=0;HaplotypeScore=0.0000;MQ=42.36;MQ0=0;MQRankSum=-1.589;QD=2.73;ReadPosRankSum=0.000;SB=-0.01;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_V1557V,Synonymous_V1561V,Synonymous_V1557V,Synonymous_V1525V,Synonymous_V1694V,Synonymous_V1535V,Synonymous_V1543V,Synonymous_V1584V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:51.82:52,0,119:0.250:21 chr8 144999427 . A G 21.06 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.380;DP=6;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=0.0000;MQ=44.01;MQ0=0;MQRankSum=-1.380;QD=3.51;ReadPosRankSum=-0.720;SB=-0.01;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Missense_V1557A,Missense_V1561A,Missense_V1557A,Missense_V1525A,Missense_V1694A,Missense_V1535A,Missense_V1543A,Missense_V1584A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:51.02:51,0,78:0.333:21 chr8 144999439 . C T 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.63;MQ0=0;MQRankSum=-1.495;QD=3.12;ReadPosRankSum=-0.198;SB=-0.01;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Missense_R1553Q,Missense_R1557Q,Missense_R1553Q,Missense_R1521Q,Missense_R1690Q,Missense_R1531Q,Missense_R1539Q,Missense_R1580Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:51.82:52,0,115:0.286:21 chr8 144999442 . A T 20.93 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.63;MQ0=0;MQRankSum=-1.495;QD=2.99;ReadPosRankSum=-0.198;SB=-0.01;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Missense_L1552Q,Missense_L1556Q,Missense_L1552Q,Missense_L1520Q,Missense_L1689Q,Missense_L1530Q,Missense_L1538Q,Missense_L1579Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:50.89:51,0,115:0.286:20 chr8 144999453 rs62642470 C A 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.63;MQ0=0;MQRankSum=-1.495;QD=3.12;ReadPosRankSum=-1.495;SB=-0.01;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_A1548A,Synonymous_A1552A,Synonymous_A1548A,Synonymous_A1516A,Synonymous_A1685A,Synonymous_A1526A,Synonymous_A1534A,Synonymous_A1575A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:51.82:52,0,115:0.286:21 chr9 334337 rs10970979 A G 1438.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.014;DP=99;Dels=0.00;FS=0.859;HRun=0;HaplotypeScore=3.5764;MQ=53.97;MQ0=0;MQRankSum=1.561;QD=14.53;ReadPosRankSum=-1.454;SB=-431.38;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Missense_N413S,Missense_N345S,Missense_N345S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,53:99:99:1469,0,1205:0.541:99 chr9 421032 rs2297079 C G 767.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.011;DP=84;Dels=0.00;FS=0.836;HRun=0;HaplotypeScore=3.5764;MQ=49.18;MQ0=0;MQRankSum=0.454;QD=9.14;ReadPosRankSum=1.227;SB=-601.56;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_L1369L,Synonymous_L1301L,Synonymous_L1269L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,38:84:99:798,0,984:0.452:99 chr9 429719 rs7854035 T C 2489.15 PASS AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=45.73;MQ0=0;QD=24.40;SB=-1816.02;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_F1497F,Synonymous_F1429F,Synonymous_F1397F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,102:102:99:2522,175,0:1.000:99 chr9 441952 rs1887957 G A 6223.32 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.526;DP=252;Dels=0.00;FS=3.372;HRun=1;HaplotypeScore=7.3334;MQ=52.86;MQ0=0;MQRankSum=-0.055;QD=24.70;ReadPosRankSum=0.082;SB=-4471.45;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_E1811E,Synonymous_E1743E,Synonymous_E1711E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,251:252:99:6223,430,0:0.996:99 chr9 464920 rs3780338 G A 2375.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.508;DP=210;Dels=0.00;FS=3.136;HRun=3;HaplotypeScore=10.1737;MQ=50.22;MQ0=0;MQRankSum=-0.954;QD=11.31;ReadPosRankSum=0.375;SB=-1394.52;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:105,105:210:99:2405,0,2467:0.500:99 chr9 2622121 rs12379259 A G 11.01 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=11.01;SB=-0.01;TI=NR_015375,NM_003383,NM_001018056;GI=FLJ35024,VLDLR,VLDLR;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chr9 2622134 rs34881325 C T 11.01 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=11.01;SB=-0.01;TI=NR_015375,NM_003383,NM_001018056;GI=FLJ35024,VLDLR,VLDLR;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chr9 6532510 . T TA 238.05 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.018;DP=156;FS=0.000;HRun=13;HaplotypeScore=294.3635;MQ=53.79;MQ0=0;MQRankSum=2.026;QD=1.53;ReadPosRankSum=-1.028;SB=-123.92;TI=NM_000170;GI=GLDC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,28:155:99:277,0,2090:0.222:99 chr9 6610326 rs35374927 C T 607.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.932;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=43.91;MQ0=6;MQRankSum=1.371;QD=7.59;ReadPosRankSum=1.767;SB=-451.01;TI=NM_000170;GI=GLDC;FC=Synonymous_E167E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,34:80:99:638,0,919:0.425:99 chr9 6645251 rs12341698 C T 44.35 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=22.18;SB=-0.01;TI=NM_000170;GI=GLDC;FC=Synonymous_G83G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:76,6,0:1.000:6 chr9 33110693 rs1803716 A C 975.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.871;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1147;MQ=44.44;MQ0=0;MQRankSum=0.456;QD=6.50;ReadPosRankSum=-1.447;SB=-802.28;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,54:150:99:1006,0,1965:0.362:99 chr9 33111283 . G A 62.85 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.637;DP=23;Dels=0.00;FS=24.693;HRun=4;HaplotypeScore=30.9296;MQ=36.33;MQ0=0;MQRankSum=0.568;QD=2.73;ReadPosRankSum=-2.038;SB=-0.01;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,7:23:92.84:93,0,354:0.304:62 chr9 33111314 . T A 40.47 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.778;DP=27;Dels=0.00;FS=20.017;HRun=4;HaplotypeScore=10.9221;MQ=40.22;MQ0=0;MQRankSum=-1.342;QD=1.50;ReadPosRankSum=-2.965;SB=-0.01;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,5:27:70.46:70,0,673:0.185:40 chr9 33112573 rs41316025 A G 1142.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.029;DP=127;Dels=0.00;FS=0.674;HRun=0;HaplotypeScore=12.8208;MQ=50.20;MQ0=0;MQRankSum=-0.577;QD=8.99;ReadPosRankSum=-1.605;SB=-677.71;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,51:127:99:1172,0,1747:0.405:99 chr9 33113121 rs869 G A 1851.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.364;DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.3634;MQ=55.78;MQ0=0;MQRankSum=1.801;QD=10.77;ReadPosRankSum=-0.447;SB=-905.82;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,77:172:99:1882,0,2223:0.448:99 chr9 33113196 rs7019896 G T 1635.36 PASS AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.63;MQ0=0;QD=30.28;SB=-695.98;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,54:54:99:1668,123,0:1.000:99 chr9 33167268 . G A 327.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.029;DP=24;Dels=0.00;FS=1.885;HRun=1;HaplotypeScore=0.9995;MQ=50.55;MQ0=0;MQRankSum=-1.376;QD=13.63;ReadPosRankSum=0.498;SB=-164.90;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,14:24:99:357,0,226:0.583:99 chr9 100459578 rs1800975 T C 1236.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.929;DP=161;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.8048;MQ=49.91;MQ0=0;MQRankSum=2.423;QD=7.68;ReadPosRankSum=0.195;SB=-941.61;TI=NR_027302,NM_000380;GI=XPA,XPA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:97,64:161:99:1266,0,2065:0.398:99 chr9 102861613 rs7024375 T G 839.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.139;DP=105;Dels=0.00;FS=0.750;HRun=1;HaplotypeScore=5.3483;MQ=48.09;MQ0=0;MQRankSum=0.023;QD=8.00;ReadPosRankSum=1.680;SB=-677.93;TI=NM_183245,NM_014425;GI=INVS,INVS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,45:105:99:870,0,1338:0.429:99 chr9 104182940 rs491979 T C 724.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9992;MQ=49.84;MQ0=0;MQRankSum=-1.710;QD=10.36;ReadPosRankSum=1.369;SB=-525.30;TI=NM_000035;GI=ALDOB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,34:70:99:755,0,843:0.486:99 chr9 108335958 rs4742953 G C 2440.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DP=229;Dels=0.00;FS=1.050;HRun=0;HaplotypeScore=19.3022;MQ=54.93;MQ0=0;MQRankSum=1.091;QD=10.66;ReadPosRankSum=2.746;SB=-1561.58;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:119,109:229:99:2470,0,2856:0.478:99 chr9 108366734 rs34787999 G A 4424.51 PASS AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8773;MQ=52.66;MQ0=0;QD=25.43;SB=-3359.61;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Missense_R203Q,Missense_R203Q,Missense_R203Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,174:174:99:4425,310,0:1.000:99 chr9 108380355 rs17309806 C A 6224.89 PASS AC=2;AF=1.00;AN=2;DP=241;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.2586;MQ=54.81;MQ0=0;QD=25.83;SB=-4169.64;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Synonymous_L342L,Synonymous_L342L,Synonymous_L342L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,241:241:99:6225,436,0:1.000:99 chr9 111630324 rs41305457 C T 1013.53 PASS AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53.50;MQ0=0;QD=27.39;SB=-639.23;TI=NM_003640;GI=IKBKAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,37:37:75.24:1047,75,0:1.000:75 chr9 127243637 rs10283445 A G 547.68 PASS AC=2;AF=1.00;AN=2;DP=20;Dels=0.05;FS=0.000;HRun=4;HaplotypeScore=9.8289;MQ=35.38;MQ0=0;QD=27.38;SB=-138.99;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,19:19:48.13:581,48,0:1.000:48 chr9 127244134 rs10120967 G A 464.03 LowDP AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=29.00;SB=-145.43;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,16:16:36.12:497,36,0:1.000:36 chr9 127244848 . T C 24.85 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=4;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9983;MQ=47.12;MQ0=0;MQRankSum=-1.026;QD=6.21;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:54.83:55,0,69:0.500:24 chr9 127244857 . T C 19.13 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9983;MQ=47.12;MQ0=0;MQRankSum=-1.026;QD=4.78;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:49.07:49,0,66:0.500:19 chr9 127244859 . A C 21.07 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9983;MQ=47.12;MQ0=0;MQRankSum=-1.026;QD=5.27;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:51.03:51,0,60:0.500:21 chr9 127244955 rs915034 G A 433.81 PASS AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5276;MQ=44.26;MQ0=0;QD=19.72;SB=-329.31;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,21:22:36.09:467,36,0:1.000:36 chr9 134382804 . C G 427.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.590;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9995;MQ=43.99;MQ0=0;MQRankSum=2.781;QD=6.38;ReadPosRankSum=1.108;SB=-380.65;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Synonymous_L110L,Synonymous_L110L,Silent,Synonymous_L110L,Synonymous_L56L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,25:67:99:458,0,871:0.373:99 chr9 134386744 rs10901065 T C 2930.53 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.644;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=47.05;MQ0=0;MQRankSum=0.000;QD=24.84;ReadPosRankSum=-0.617;SB=-2099.49;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Synonymous_T314T,Synonymous_T292T,Synonymous_T175T,Synonymous_T292T,Synonymous_T238T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,117:118:99:2964,208,0:0.992:99 chr9 134387488 rs3739494 T C 1588.37 PASS AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=46.31;MQ0=0;QD=23.02;SB=-1346.81;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Synonymous_D371D,Synonymous_D349D,Synonymous_D232D,Synonymous_D349D,Synonymous_D295D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,69:69:99:1621,111,0:1.000:99 chr9 134398534 rs3739495 T C 125.17 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.29;SB=-37.35;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,4:4:12.04:158,12,0:1.000:12 chr9 134398719 rs3824395 T C 3378.58 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.708;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=46.16;MQ0=1;MQRankSum=0.012;QD=23.46;ReadPosRankSum=0.497;SB=-2599.70;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,142:144:99:3379,232,0:0.986:99 chr9 134398771 rs10793885 T C 1104.94 PASS AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.44;MQ0=0;QD=26.95;SB=-713.69;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,41:41:81.27:1138,81,0:1.000:81 chr9 134398778 rs4740259 A G 1020.62 PASS AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.71;MQ0=0;QD=26.86;SB=-631.61;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,38:38:75.25:1054,75,0:1.000:75 chr9 134398831 . T G 554.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.701;DP=48;Dels=0.00;FS=1.098;HRun=2;HaplotypeScore=1.7882;MQ=42.28;MQ0=0;MQRankSum=-0.471;QD=11.55;ReadPosRankSum=-0.575;SB=-458.76;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,28:48:99:584,0,405:0.583:99 chr9 134398841 rs7857419 C T 578.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.951;DP=62;Dels=0.00;FS=0.940;HRun=1;HaplotypeScore=4.6818;MQ=41.14;MQ0=0;MQRankSum=-0.035;QD=9.32;ReadPosRankSum=-1.838;SB=-460.91;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,30:62:99:608,0,645:0.484:99 chr9 134398946 rs11005 T C 56.16 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.800;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=46.13;MQ0=0;MQRankSum=-2.267;QD=4.01;ReadPosRankSum=0.533;SB=-56.74;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,5:14:86.15:86,0,219:0.357:56 chr9 136291063 rs3118667 C T 1241.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.469;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=44.33;MQ0=0;MQRankSum=0.980;QD=10.70;ReadPosRankSum=-1.868;SB=-998.90;TI=NR_024514,NM_139027,NM_139026,NM_139025;GI=ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13;FC=Silent,Synonymous_A140A,Synonymous_A140A,Synonymous_A140A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,64:116:99:1271,0,1036:0.552:99 chr9 136301982 rs2301612 C G 872.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.203;DP=72;Dels=0.00;FS=0.911;HRun=1;HaplotypeScore=3.5981;MQ=39.45;MQ0=0;MQRankSum=-0.667;QD=12.12;ReadPosRankSum=-0.113;SB=-531.12;TI=NR_024514,NM_139027,NM_139026,NM_139025;GI=ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13;FC=Silent,Missense_Q448E,Missense_Q417E,Missense_Q448E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,39:72:99:903,0,778:0.542:99 chr9 136304497 rs3124768 A G 1453.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.874;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5484;MQ=46.58;MQ0=0;MQRankSum=-1.300;QD=9.89;ReadPosRankSum=-1.649;SB=-1239.82;TI=NR_024514,NM_139027,NM_139026,NM_139025;GI=ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13;FC=Silent,Synonymous_T572T,Synonymous_T541T,Synonymous_T572T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,75:147:99:1483,0,1403:0.510:99 chr9 136308542 rs3124767 C T 349.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.57;MQ0=0;MQRankSum=-0.703;QD=10.92;ReadPosRankSum=1.273;SB=-264.47;TI=NR_024514,NM_139027,NM_139026,NM_139025;GI=ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13;FC=Silent,Synonymous_G760G,Synonymous_G729G,Synonymous_G760G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,18:32:99:379,0,325:0.563:99 chr9 136324239 rs1055432 C A 775.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.226;DP=79;Dels=0.00;FS=1.855;HRun=0;HaplotypeScore=5.3645;MQ=45.55;MQ0=0;MQRankSum=-0.366;QD=9.81;ReadPosRankSum=-0.466;SB=-484.94;TI=NR_024514,NM_139027,NM_139026,NM_139025;GI=ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13;FC=Silent,Synonymous_T1351T,Synonymous_T1320T,Synonymous_T1407T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,36:79:99:805,0,908:0.462:99 chr9 136412170 rs2073874 C T 3502.20 PASS AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48.27;MQ0=0;QD=23.66;SB=-2901.85;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_D258D,Synonymous_D258D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,148:148:99:3502,241,0:1.000:99 chr9 136412236 rs2073875 A T 3671.23 PASS AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.2952;MQ=47.67;MQ0=0;QD=24.64;SB=-2654.61;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_A280A,Synonymous_A280A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,148:149:99:3671,256,0:1.000:99 chr9 136412255 rs2073876 A C 2929.86 PASS AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=47.89;MQ0=0;QD=24.62;SB=-2104.23;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_R287R,Synonymous_R287R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,119:119:99:2963,208,0:1.000:99 chr9 136412296 rs2073877 C T 978.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.154;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8936;MQ=45.87;MQ0=0;MQRankSum=-0.507;QD=11.25;ReadPosRankSum=1.733;SB=-682.65;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_I300I,Synonymous_I300I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,47:87:99:1008,0,884:0.540:99 chr9 136421044 rs7868941 C T 50.52 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.731;QD=10.10;ReadPosRankSum=-0.731;SB=-68.13;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_H547H,Synonymous_H547H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,4:5:31.62:81,0,32:0.800:31 chr9 136433542 . C T 736.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.347;DP=64;Dels=0.00;FS=0.984;HRun=0;HaplotypeScore=6.1636;MQ=43.89;MQ0=0;MQRankSum=-2.967;QD=11.51;ReadPosRankSum=-0.970;SB=-572.09;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_P674P,Synonymous_P674P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,37:64:99:767,0,485:0.587:99 chr9 136434598 rs1064975 A G 529.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.185;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8371;MQ=49.84;MQ0=0;MQRankSum=1.030;QD=8.82;ReadPosRankSum=-2.437;SB=-427.09;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_V771V,Synonymous_V771V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,28:60:99:559,0,651:0.467:99 chr9 136438985 rs62637566 G A 795.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.806;DP=63;Dels=0.00;FS=0.979;HRun=0;HaplotypeScore=4.6529;MQ=43.18;MQ0=0;MQRankSum=-1.321;QD=12.62;ReadPosRankSum=0.079;SB=-665.27;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_V871V,Synonymous_V871V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,40:63:99:825,0,486:0.635:99 chr9 136440144 rs1105952 G A 455.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.160;DP=51;Dels=0.00;FS=1.068;HRun=0;HaplotypeScore=2.9991;MQ=46.91;MQ0=0;MQRankSum=-0.802;QD=8.94;ReadPosRankSum=3.255;SB=-394.29;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,24:51:99:486,0,605:0.471:99 chr9 136440271 rs3833705 GC G 389.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.240;DP=29;FS=1.455;HRun=6;HaplotypeScore=23.5201;MQ=45.20;MQ0=0;MQRankSum=-1.331;QD=13.42;ReadPosRankSum=-1.026;SB=-178.77;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,14:29:99:428,0,448:0.483:99 chr9 139092481 . G C 1361.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.507;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5748;MQ=46.02;MQ0=0;MQRankSum=0.814;QD=7.20;ReadPosRankSum=-1.407;SB=-1168.61;TI=NM_014564,NM_178138;GI=LHX3,LHX3;FC=Synonymous_A71A,Synonymous_A66A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:114,75:189:99:1392,0,2396:0.397:99 chr10 14976414 rs7076862;rs75553163 G A 605.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.493;DP=90;Dels=0.00;FS=1.920;HRun=1;HaplotypeScore=6.3238;MQ=42.83;MQ0=4;MQRankSum=0.198;QD=6.72;ReadPosRankSum=2.530;SB=-298.04;TI=NM_022487,NM_001033858,NM_001033855,NM_001033857;GI=DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C;FC=Synonymous_L100L,Synonymous_L95L,Synonymous_L215L,Synonymous_L95L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,32:90:99:635,0,1351:0.356:99 chr10 50666482 rs4253234 G C 3069.05 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.373;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6787;MQ=52.62;MQ0=0;MQRankSum=-0.538;QD=27.40;ReadPosRankSum=1.527;SB=-1934.00;TI=NM_000124;GI=ERCC6;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,110:112:99:3102,187,0:0.982:99 chr10 50666628 . CA C 146.46 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DP=85;FS=2.091;HRun=13;HaplotypeScore=206.3624;MQ=57.12;MQ0=0;MQRankSum=0.424;QD=1.72;ReadPosRankSum=-1.513;SB=-80.36;TI=NM_000124;GI=ERCC6;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,15:85:99:185,0,1311:0.192:99 chr10 50681033 rs2229760 G A 2184.53 PASS AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=49.19;MQ0=0;QD=25.70;SB=-1362.81;TI=NM_000124;GI=ERCC6;FC=Synonymous_G917G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,85:85:99:2218,157,0:1.000:99 chr10 50740876 rs2228524 G C 2604.63 PASS AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3371;MQ=46.25;MQ0=0;QD=23.05;SB=-2134.64;TI=NM_000124;GI=ERCC6;FC=Synonymous_L45L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,113:113:99:2638,181,0:1.000:99 chr10 64572037 rs11325764 AT A 5089.91 PASS AC=2;AF=1.00;AN=2;DP=166;FS=0.000;HRun=8;HaplotypeScore=115.1907;MQ=48.76;MQ0=0;QD=30.66;SB=-1883.15;TI=NM_001136177,NM_001136179,NM_000399,NM_001136178;GI=EGR2,EGR2,EGR2,EGR2;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:14,151:166:99:5090,454,0:0.915:99 chr10 64573771 rs224083 C T 1773.63 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.689;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5128;MQ=47.19;MQ0=0;MQRankSum=0.433;QD=22.17;ReadPosRankSum=1.472;SB=-1425.31;TI=NM_001136177,NM_001136179,NM_000399,NM_001136178;GI=EGR2,EGR2,EGR2,EGR2;FC=Synonymous_P209P,Synonymous_P159P,Synonymous_P209P,Synonymous_P209P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,79:80:99:1807,123,0:0.988:99 chr10 71332204 rs4536103 A G 76.84 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.84;MQ0=0;MQRankSum=-1.380;QD=12.81;ReadPosRankSum=-0.720;SB=-37.80;TI=NM_020999;GI=NEUROG3;FC=Missense_F199S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,4:6:52.63:107,0,53:0.667:52 chr10 72357599 rs71472986 TA T 188.46 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.460;DP=93;FS=0.000;HRun=16;HaplotypeScore=224.3149;MQ=48.11;MQ0=0;MQRankSum=-1.307;QD=2.03;ReadPosRankSum=-0.948;SB=-133.80;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,15:93:99:227,0,928:0.217:99 chr10 72357713 rs1889490 C T 329.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.131;DP=31;Dels=0.00;FS=1.840;HRun=0;HaplotypeScore=3.4525;MQ=49.18;MQ0=0;MQRankSum=-1.846;QD=10.63;ReadPosRankSum=-0.099;SB=-51.59;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,14:31:99:360,0,382:0.452:99 chr10 72358577 rs885822 G A 1984.28 PASS AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=49.35;MQ0=0;QD=22.30;SB=-1630.23;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Synonymous_H300H,Synonymous_H300H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,88:89:99:2017,141,0:1.000:99 chr10 72358655 rs885821 G A 1667.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.354;DP=140;Dels=0.00;FS=1.352;HRun=0;HaplotypeScore=6.5399;MQ=46.74;MQ0=0;MQRankSum=-0.528;QD=11.91;ReadPosRankSum=0.371;SB=-1296.09;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Synonymous_A274A,Synonymous_A274A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,81:140:99:1697,0,1209:0.579:99 chr10 73156823 . G A 117.94 LowGQ;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=39.77;MQ0=0;MQRankSum=-0.572;QD=14.74;ReadPosRankSum=-0.572;SB=-66.57;TI=NM_001171932,NM_052836,NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23,CDH23,CDH23;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,6:8:29.72:148,0,30:0.750:29 chr10 73157033 . CCGAGG C 448.01 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-2.520;DP=11;FS=0.000;HRun=0;HaplotypeScore=30.1928;MQ=45.13;MQ0=0;MQRankSum=0.597;QD=40.73;ReadPosRankSum=0.278;SB=-207.89;TI=NM_001171932,NM_052836,NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23,CDH23,CDH23;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,7:11:99:487,0,175:0.778:99 chr10 73199588 rs41281302 C T 1230.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.863;DP=147;Dels=0.00;FS=2.138;HRun=0;HaplotypeScore=9.5639;MQ=47.50;MQ0=0;MQRankSum=-1.951;QD=8.37;ReadPosRankSum=-3.928;SB=-863.07;TI=NM_001171932,NM_052836,NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23,CDH23,CDH23;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,63:147:99:1261,0,1732:0.429:99 chr10 73199595 rs7902757 C T 969.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4685;MQ=48.07;MQ0=0;MQRankSum=-0.952;QD=7.13;ReadPosRankSum=-2.638;SB=-777.98;TI=NM_001171932,NM_052836,NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23,CDH23,CDH23;FC=Missense_R3C,Missense_R3C,Missense_R3C,Missense_R3C,Missense_R3C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,52:136:99:1000,0,1748:0.385:99 chr10 73270906 rs3802720 T C 1204.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.816;DP=106;Dels=0.00;FS=2.512;HRun=0;HaplotypeScore=0.8941;MQ=49.32;MQ0=0;MQRankSum=-2.504;QD=11.36;ReadPosRankSum=-1.933;SB=-844.92;TI=NM_001171932,NM_052836,NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23,CDH23,CDH23;FC=Synonymous_V122V,Synonymous_V122V,Synonymous_V122V,Synonymous_V122V,Synonymous_V122V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,58:106:99:1235,0,963:0.547:99 chr10 73377314 rs7903772 C G 220.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.274;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=47.88;MQ0=0;MQRankSum=-0.981;QD=5.65;ReadPosRankSum=0.015;SB=-216.22;TI=NM_001171932,NM_052836,NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23,CDH23,CDH23;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,14:39:99:250,0,545:0.359:99 chr10 73377330 rs6480536 T C 536.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.288;DP=37;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.7997;MQ=47.13;MQ0=0;MQRankSum=-0.239;QD=14.50;ReadPosRankSum=-0.748;SB=-346.79;TI=NM_001171932,NM_052836,NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23,CDH23,CDH23;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,24:37:99:566,0,242:0.649:99 chr10 73434906 rs10999947 G A 1141.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.273;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.3633;MQ=48.39;MQ0=0;MQRankSum=-0.511;QD=8.78;ReadPosRankSum=0.661;SB=-942.79;TI=NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23;FC=Missense_S496N,Missense_S496N,Missense_S496N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,60:130:99:1172,0,1459:0.462:99 chr10 73455201 rs3752752 T C 1053.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.349;DP=105;Dels=0.00;FS=0.726;HRun=0;HaplotypeScore=5.5759;MQ=44.26;MQ0=0;MQRankSum=0.324;QD=10.03;ReadPosRankSum=-0.285;SB=-873.58;TI=NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23;FC=Synonymous_N772N,Synonymous_N772N,Synonymous_N772N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,52:105:99:1083,0,1123:0.495:99 chr10 73455273 rs3752751 T C 995.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.841;DP=77;Dels=0.00;FS=1.942;HRun=0;HaplotypeScore=3.4941;MQ=45.04;MQ0=0;MQRankSum=1.081;QD=12.93;ReadPosRankSum=2.053;SB=-710.16;TI=NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23;FC=Synonymous_D796D,Synonymous_D796D,Synonymous_D796D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,47:77:99:1025,0,644:0.610:99 chr10 73466709 rs10823829 T C 474.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.594;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=41.76;MQ0=0;MQRankSum=-1.958;QD=7.65;ReadPosRankSum=1.884;SB=-393.43;TI=NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23;FC=Synonymous_S1003S,Synonymous_S1003S,Synonymous_S1003S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,25:62:99:504,0,765:0.410:99 chr10 73492079 rs1227065 A G 182.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.146;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9996;MQ=47.94;MQ0=0;MQRankSum=-1.786;QD=7.60;ReadPosRankSum=0.790;SB=-132.25;TI=NM_001171930,NM_022124,NM_001168390;GI=CDH23,CDH23,C10orf105;FC=Missense_N1351D,Missense_N1351D,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,10:24:99:212,0,338:0.417:99 chr10 73498355 rs56181447 G A 997.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.131;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=49.31;MQ0=0;MQRankSum=-0.990;QD=11.88;ReadPosRankSum=0.402;SB=-752.24;TI=NM_022124;GI=CDH23;FC=Missense_R1437Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,48:84:99:1028,0,704:0.571:99 chr10 73501556 rs1227051 G A 735.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.475;DP=60;Dels=0.00;FS=2.268;HRun=0;HaplotypeScore=9.1315;MQ=47.46;MQ0=0;MQRankSum=-1.109;QD=12.26;ReadPosRankSum=-2.301;SB=-492.93;TI=NM_022124;GI=CDH23;FC=Missense_A1575T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,36:60:99:766,0,462:0.600:99 chr10 73537614 rs17712523 G A 1047.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.202;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5463;MQ=46.22;MQ0=0;MQRankSum=1.290;QD=10.91;ReadPosRankSum=0.033;SB=-878.35;TI=NM_022124;GI=CDH23;FC=Missense_V1675I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,52:96:99:1078,0,901:0.542:99 chr10 73537978 rs10762480 C T 565.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.467;DP=108;Dels=0.00;FS=2.794;HRun=0;HaplotypeScore=2.7855;MQ=42.40;MQ0=0;MQRankSum=-0.327;QD=5.24;ReadPosRankSum=-1.040;SB=-426.44;TI=NM_022124;GI=CDH23;FC=Synonymous_Y1700Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,33:108:99:595,0,1634:0.306:99 chr10 73544086 rs3802711 G A 743.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.082;DP=81;Dels=0.00;FS=1.867;HRun=0;HaplotypeScore=7.5976;MQ=45.89;MQ0=0;MQRankSum=-0.197;QD=9.18;ReadPosRankSum=-0.062;SB=-509.08;TI=NM_022124;GI=CDH23;FC=Missense_R1804Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,33:81:99:774,0,1054:0.407:99 chr10 73550117 rs11592462 C G 501.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.609;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8656;MQ=49.84;MQ0=0;MQRankSum=0.012;QD=11.40;ReadPosRankSum=2.256;SB=-411.80;TI=NM_022124;GI=CDH23;FC=Missense_T1999S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,26:44:99:532,0,330:0.591:99 chr10 73550969 rs10466026 G A 704.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.064;DP=74;Dels=0.00;FS=1.914;HRun=1;HaplotypeScore=1.8835;MQ=49.24;MQ0=0;MQRankSum=-0.442;QD=9.52;ReadPosRankSum=-1.598;SB=-414.68;TI=NM_022124;GI=CDH23;FC=Missense_E2044K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,32:74:99:735,0,846:0.432:99 chr10 73558886 rs4747194 G A 1146.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.234;DP=119;Dels=0.00;FS=1.483;HRun=0;HaplotypeScore=3.5764;MQ=43.35;MQ0=0;MQRankSum=-2.700;QD=9.64;ReadPosRankSum=1.133;SB=-765.38;TI=NM_022124,NM_001171934,NM_001171933;GI=CDH23,CDH23,CDH23;FC=Missense_R2358Q,Missense_R118Q,Missense_R118Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,55:119:99:1177,0,1290:0.462:99 chr10 73558952 rs4747195 C T 2007.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.326;DP=179;Dels=0.00;FS=1.169;HRun=0;HaplotypeScore=7.3651;MQ=44.93;MQ0=0;MQRankSum=-2.798;QD=11.21;ReadPosRankSum=0.573;SB=-1623.90;TI=NM_022124,NM_001171934,NM_001171933;GI=CDH23,CDH23,CDH23;FC=Missense_P2380L,Missense_P140L,Missense_P140L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,99:179:99:2037,0,1559:0.553:99 chr10 73562744 rs10823849 G A 581.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.288;DP=79;Dels=0.00;FS=0.867;HRun=0;HaplotypeScore=0.0000;MQ=51.31;MQ0=0;MQRankSum=-1.056;QD=7.36;ReadPosRankSum=-0.167;SB=-430.22;TI=NM_022124,NM_001171934,NM_001171933;GI=CDH23,CDH23,CDH23;FC=Synonymous_A2524A,Synonymous_A284A,Synonymous_A284A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,30:79:99:612,0,1021:0.380:99 chr10 73575384 rs1867978 A G 497.20 LowDP AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.72;MQ0=0;QD=27.62;SB=-188.08;TI=NM_022124,NM_001171934,NM_001171933,NM_001171935,NM_001171936;GI=CDH23,CDH23,CDH23,CDH23,CDH23;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,18:18:39.13:530,39,0:1.000:39 chr10 73576307 rs7869 C T 1501.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.001;DP=143;Dels=0.00;FS=0.618;HRun=1;HaplotypeScore=5.4377;MQ=43.18;MQ0=0;MQRankSum=2.431;QD=10.50;ReadPosRankSum=-0.467;SB=-1255.74;TI=NM_002778,NM_001042465,NM_001042466;GI=PSAP,PSAP,PSAP;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,75:143:99:1531,0,1345:0.524:99 chr10 73610982 rs2070188 G A 1118.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.222;DP=100;Dels=0.00;FS=1.634;HRun=0;HaplotypeScore=2.8857;MQ=45.74;MQ0=0;MQRankSum=-1.885;QD=11.18;ReadPosRankSum=-2.162;SB=-753.50;TI=NM_002778,NM_001042465,NM_001042466;GI=PSAP,PSAP,PSAP;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,53:100:99:1148,0,987:0.530:99 chr10 75009107 rs2018198 T A 3233.06 PASS AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=51.27;MQ0=0;QD=26.72;SB=-1904.76;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,121:121:99:3268,232,0:1.000:99 chr10 75009940 . T C 24.85 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=44.10;MQ0=0;MQRankSum=-1.231;QD=4.97;ReadPosRankSum=-1.231;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:5:54.83:55,0,66:0.400:24 chr10 75009947 . A C 18.88 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=40.78;MQ0=0;MQRankSum=-1.067;QD=2.36;ReadPosRankSum=0.572;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:48.81:49,0,138:0.250:18 chr10 75009957 . G A 46.24 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.531;DP=11;Dels=0.00;FS=3.233;HRun=1;HaplotypeScore=0.8667;MQ=37.18;MQ0=0;MQRankSum=-0.566;QD=4.20;ReadPosRankSum=0.382;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,3:11:76.23:76,0,166:0.273:46 chr10 75009963 . G A 43.25 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.246;DP=15;Dels=0.00;FS=6.264;HRun=1;HaplotypeScore=3.6168;MQ=35.89;MQ0=1;MQRankSum=-1.557;QD=2.88;ReadPosRankSum=1.090;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,3:15:73.25:73,0,193:0.200:43 chr10 75009965 . G A 43.26 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.401;DP=15;Dels=0.00;FS=6.264;HRun=1;HaplotypeScore=3.6168;MQ=35.89;MQ0=1;MQRankSum=-1.246;QD=2.88;ReadPosRankSum=0.934;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,3:15:73.25:73,0,189:0.200:43 chr10 75009972 . C G 41.34 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.623;DP=15;Dels=0.00;FS=6.892;HRun=0;HaplotypeScore=19.0494;MQ=35.89;MQ0=1;MQRankSum=-2.180;QD=2.76;ReadPosRankSum=-0.778;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,3:15:71.34:71,0,209:0.200:41 chr10 75010010 rs12257264 T C 251.59 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=38.42;MQ0=0;QD=22.87;SB=-191.19;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,11:11:21.07:285,21,0:1.000:21 chr10 75010081 rs12257322 T C 268.31 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=39.75;MQ0=0;QD=24.39;SB=-151.21;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,11:11:24.05:301,24,0:1.000:24 chr10 75010137 rs12249492 C T 754.58 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.436;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=42.4001;MQ=43.83;MQ0=0;MQRankSum=1.436;QD=20.96;ReadPosRankSum=-0.347;SB=-384.05;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,34:36:63.16:788,63,0:0.971:63 chr10 75010142 . CAA C,CA 447.90 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-0.577;DP=34;FS=0.000;HaplotypeScore=274.3072;MQ=44.20;MQ0=0;MQRankSum=0.075;QD=13.17;ReadPosRankSum=0.025;SB=-214.02;TI=NM_016065;GI=MRPS16;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:9,12,0:34:99:526,175,275,183,0,186:0.571:99 chr10 90771829 rs2234978 T C 4991.71 PASS AC=2;AF=1.00;AN=2;DP=184;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=51.91;MQ0=0;QD=27.13;SB=-3307.86;TI=NR_028034,NR_028035,NR_028033,NM_152872,NM_152871,NM_000043,NR_028036;GI=FAS,FAS,FAS,FAS,FAS,FAS,FAS;FC=Silent,Silent,Silent,Synonymous_T214T,Synonymous_T193T,Synonymous_T214T,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,183:184:99:4992,355,0:1.000:99 chr10 95753822 rs2911857 A G 580.08 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=47.19;MQ0=0;QD=22.31;SB=-463.80;TI=NM_016341;GI=PLCE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,26:26:42.14:613,42,0:1.000:42 chr10 95790669 rs10882386 G A 4742.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.338;DP=348;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=18.2951;MQ=53.66;MQ0=0;MQRankSum=3.548;QD=13.63;ReadPosRankSum=2.043;SB=-2479.55;TI=NM_016341;GI=PLCE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:159,187:348:99:4742,0,3643:0.540:99 chr10 95791613 rs17109671 T C 1851.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.077;DP=174;Dels=0.00;FS=1.208;HRun=0;HaplotypeScore=7.2584;MQ=53.42;MQ0=0;MQRankSum=1.261;QD=10.64;ReadPosRankSum=0.323;SB=-1153.11;TI=NM_016341;GI=PLCE1;FC=Synonymous_C270C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:93,81:174:99:1881,0,2099:0.466:99 chr10 95791763 rs17109674 G A 3331.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.027;DP=355;Dels=0.00;FS=0.815;HRun=1;HaplotypeScore=12.8317;MQ=52.70;MQ0=0;MQRankSum=2.798;QD=9.38;ReadPosRankSum=-2.063;SB=-2425.80;TI=NM_016341;GI=PLCE1;FC=Synonymous_E320E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:197,158:355:99:3332,0,4185:0.445:99 chr10 95931087 rs17417407 G T 1590.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.556;DP=143;Dels=0.00;FS=1.350;HRun=0;HaplotypeScore=14.9083;MQ=49.02;MQ0=0;MQRankSum=1.632;QD=11.12;ReadPosRankSum=0.900;SB=-1139.49;TI=NM_016341,NM_001165979;GI=PLCE1,PLCE1;FC=Missense_R548L,Missense_R240L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,76:143:99:1620,0,1332:0.539:99 chr10 96039597 rs2274224 G C 2823.09 PASS AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=1.7882;MQ=47.47;MQ0=0;QD=25.21;SB=-2140.04;TI=NM_016341,NM_001165979,NR_033969;GI=PLCE1,PLCE1,LOC100128054;FC=Missense_R1575P,Missense_R1267P,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,112:112:99:2856,199,0:1.000:99 chr10 96058298 rs3765524 C T 1656.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.668;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1248;MQ=46.83;MQ0=0;MQRankSum=-1.489;QD=8.49;ReadPosRankSum=-0.558;SB=-1366.61;TI=NM_016341,NM_001165979;GI=PLCE1,PLCE1;FC=Missense_T1777I,Missense_T1469I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:109,86:195:99:1686,0,2183:0.441:99 chr10 96066341 rs2274223 A G 1445.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.797;DP=156;Dels=0.00;FS=3.792;HRun=0;HaplotypeScore=4.6817;MQ=49.38;MQ0=0;MQRankSum=-1.038;QD=9.26;ReadPosRankSum=0.314;SB=-1180.38;TI=NM_016341,NM_001165979;GI=PLCE1,PLCE1;FC=Missense_H1927R,Missense_H1619R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:82,74:156:99:1475,0,1822:0.474:99 chr10 96087728 rs3203713 A G 208.13 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.993;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51.34;MQ0=0;MQRankSum=0.993;QD=13.88;ReadPosRankSum=-1.448;SB=-33.99;TI=NM_016341,NM_001165979;GI=PLCE1,PLCE1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,8:15:99:238,0,189:0.533:99 chr10 101469605 rs2300983 G A 3044.45 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.704;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.1764;MQ=50.76;MQ0=0;MQRankSum=1.704;QD=24.36;ReadPosRankSum=1.455;SB=-2158.19;TI=NM_020354,NM_004376,NM_078470;GI=ENTPD7,COX15,COX15;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,124:125:99:3077,214,0:0.992:99 chr10 101470858 rs11405417 C CA 1709.55 PASS AC=2;AF=1.00;AN=2;DP=60;FS=0.000;HRun=8;HaplotypeScore=85.9324;MQ=59.74;MQ0=0;QD=28.49;SB=-844.96;TI=NM_020354,NM_004376,NM_078470;GI=ENTPD7,COX15,COX15;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,57:60:99:1752,174,0:0.966:99 chr10 101473218 rs2231687 A G 2771.14 PASS AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45.55;MQ0=0;QD=23.68;SB=-2145.10;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Missense_F374L,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,117:117:99:2804,193,0:1.000:99 chr10 101473535 rs7073616 C T 98.12 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.03;MQ0=0;QD=19.62;SB=-68.32;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:5:9.03:130,9,0:1.000:9 chr10 101473872 . CT C 414.12 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.044;DP=91;FS=0.000;HRun=12;HaplotypeScore=122.7636;MQ=54.78;MQ0=0;MQRankSum=1.914;QD=4.55;ReadPosRankSum=-0.889;SB=-214.15;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,24:91:99:453,0,1144:0.329:99 chr10 101474069 . G A 1350.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.565;DP=112;Dels=0.00;FS=2.465;HRun=3;HaplotypeScore=4.5552;MQ=56.81;MQ0=0;MQRankSum=0.629;QD=12.06;ReadPosRankSum=0.797;SB=-763.37;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,57:112:99:1381,0,1387:0.509:99 chr10 101492241 rs2231675 G A 406.40 LowDP AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=29.03;SB=-141.49;TI=NM_004376,NM_078470,NM_015960;GI=COX15,COX15,CUTC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,14:14:33.10:439,33,0:1.000:33 chr10 101492403 rs2281636 T G 1732.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.635;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=50.32;MQ0=0;MQRankSum=0.024;QD=24.40;ReadPosRankSum=-1.586;SB=-1148.97;TI=NM_004376,NM_078470,NM_015960;GI=COX15,COX15,CUTC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,70:71:99:1765,123,0:0.986:99 chr10 104596924 rs6163 C A 445.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.886;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.52;MQ0=0;MQRankSum=-0.295;QD=12.74;ReadPosRankSum=-1.164;SB=-377.45;TI=NM_000102;GI=CYP17A1;FC=Synonymous_S65S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,23:35:99:476,0,243:0.657:99 chr10 104596981 rs6162 G A 329.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.104;DP=26;Dels=0.00;FS=1.619;HRun=0;HaplotypeScore=2.6548;MQ=54.77;MQ0=0;MQRankSum=0.311;QD=12.67;ReadPosRankSum=0.415;SB=-226.05;TI=NM_000102;GI=CYP17A1;FC=Synonymous_H46H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,15:26:99:359,0,282:0.577:99 chr10 104597152 rs743572 A G 1024.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.082;DP=99;Dels=0.00;FS=0.741;HRun=1;HaplotypeScore=5.5481;MQ=49.45;MQ0=0;MQRankSum=-1.746;QD=10.34;ReadPosRankSum=-1.459;SB=-815.25;TI=NM_000102;GI=CYP17A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,49:99:99:1054,0,1048:0.495:99 chr10 105793750 rs17116350 T C 388.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.677;DP=53;Dels=0.00;FS=3.902;HRun=1;HaplotypeScore=0.9159;MQ=46.57;MQ0=0;MQRankSum=0.900;QD=7.33;ReadPosRankSum=-0.547;SB=-234.15;TI=NM_000494;GI=COL17A1;FC=Missense_D1370G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,19:53:99:418,0,734:0.358:99 chr10 105796819 rs2476958 A G 2111.64 PASS AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=47.48;MQ0=0;QD=25.14;SB=-1531.01;TI=NM_000494;GI=COL17A1;FC=Synonymous_I1087I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,84:84:99:2145,151,0:1.000:99 chr10 105798872 rs2274100 T C 2136.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.662;DP=197;Dels=0.00;FS=1.733;HRun=2;HaplotypeScore=5.5759;MQ=51.99;MQ0=0;MQRankSum=-2.662;QD=10.84;ReadPosRankSum=-0.444;SB=-1661.97;TI=NM_000494;GI=COL17A1;FC=Synonymous_P968P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,102:197:99:2166,0,2107:0.518:99 chr10 105801253 rs4918079 G A 1520.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.987;DP=162;Dels=0.00;FS=1.243;HRun=0;HaplotypeScore=13.6423;MQ=45.54;MQ0=0;MQRankSum=-1.219;QD=9.39;ReadPosRankSum=0.924;SB=-1137.13;TI=NM_000494;GI=COL17A1;FC=Synonymous_R865R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,74:162:99:1551,0,1809:0.460:99 chr10 105810400 rs805722 T C 860.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.222;DP=90;Dels=0.00;FS=0.832;HRun=0;HaplotypeScore=6.2312;MQ=50.77;MQ0=0;MQRankSum=1.223;QD=9.56;ReadPosRankSum=-0.642;SB=-605.28;TI=NM_000494;GI=COL17A1;FC=Missense_M703V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,44:90:99:890,0,940:0.489:99 chr10 105816916 rs805698 C T 5824.03 PASS AC=2;AF=1.00;AN=2;DP=234;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=48.58;MQ0=0;QD=24.89;SB=-4402.82;TI=NM_000494;GI=COL17A1;FC=Missense_G428S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,234:234:99:5824,406,0:1.000:99 chr10 105819956 rs805701 G A 734.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.582;DP=96;Dels=0.00;FS=0.777;HRun=0;HaplotypeScore=4.4648;MQ=48.37;MQ0=0;MQRankSum=0.500;QD=7.65;ReadPosRankSum=-0.425;SB=-608.74;TI=NM_000494;GI=COL17A1;FC=Synonymous_A354A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,39:96:99:765,0,1225:0.406:99 chr10 105824333 rs805708 G A 696.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.846;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=43.09;MQ0=0;MQRankSum=-2.131;QD=10.88;ReadPosRankSum=0.047;SB=-577.72;TI=NM_000494;GI=COL17A1;FC=Missense_T210M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,36:64:99:726,0,554:0.563:99 chr10 127511756 rs4256900 C T 783.22 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.23;MQ0=0;QD=24.48;SB=-557.36;TI=NM_000375;GI=UROS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,32:32:57.19:816,57,0:1.000:57 chr10 127511790 rs4385801 G T 645.91 PASS AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56.45;MQ0=0;QD=23.92;SB=-417.98;TI=NM_000375;GI=UROS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,27:27:48.15:679,48,0:1.000:48 chr11 791155 . C T 131.02 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.531;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.55;MQ0=0;MQRankSum=-0.715;QD=11.91;ReadPosRankSum=0.382;SB=-130.62;TI=NM_024698,NM_001191060,NM_001191061;GI=SLC25A22,SLC25A22,SLC25A22;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,8:11:54.38:161,0,54:0.727:54 chr11 791462 rs4963153 G A 846.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.238;DP=92;Dels=0.00;FS=0.784;HRun=0;HaplotypeScore=0.0000;MQ=47.17;MQ0=0;MQRankSum=-0.796;QD=9.20;ReadPosRankSum=0.419;SB=-685.36;TI=NM_024698,NM_001191060,NM_001191061;GI=SLC25A22,SLC25A22,SLC25A22;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,42:92:99:877,0,1055:0.457:99 chr11 1774136 rs8839 T G 491.44 LowDP AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=50.93;MQ0=0;QD=25.87;SB=-276.91;TI=NM_053005,NM_001909;GI=MOB2,CTSD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,19:19:39.12:524,39,0:1.000:39 chr11 1774666 rs12214 T C 176.67 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.43;MQ0=0;QD=25.24;SB=-118.85;TI=NM_053005,NM_001909;GI=MOB2,CTSD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:15.05:209,15,0:1.000:15 chr11 1780205 rs11555039 A G 994.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.619;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7605;MQ=45.73;MQ0=0;MQRankSum=0.423;QD=9.56;ReadPosRankSum=2.068;SB=-815.76;TI=NM_053005,NM_001909;GI=MOB2,CTSD;FC=Silent,Synonymous_T155T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,51:104:99:1024,0,1124:0.490:99 chr11 1780867 rs2230067 G A 300.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.513;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8729;MQ=46.68;MQ0=0;MQRankSum=-0.987;QD=10.35;ReadPosRankSum=-1.206;SB=-248.37;TI=NM_053005,NM_001909;GI=MOB2,CTSD;FC=Silent,Synonymous_A77A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,16:29:99:330,0,252:0.552:99 chr11 1782594 rs17571 G A 956.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.321;DP=86;Dels=0.00;FS=0.808;HRun=0;HaplotypeScore=4.7755;MQ=45.04;MQ0=0;MQRankSum=-0.972;QD=11.12;ReadPosRankSum=0.156;SB=-751.08;TI=NM_053005,NM_001909;GI=MOB2,CTSD;FC=Silent,Missense_A58V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,47:86:99:986,0,774:0.547:99 chr11 2188238 rs6357 C T 529.65 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.583;DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7608;MQ=48.13;MQ0=0;MQRankSum=1.583;QD=23.03;ReadPosRankSum=-0.980;SB=-399.14;TI=NM_199292,NM_199293,NM_000360;GI=TH,TH,TH;FC=Synonymous_K271K,Synonymous_K267K,Synonymous_K240K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,22:23:39.13:563,39,0:0.957:39 chr11 3877074 rs10835206 C T 4038.17 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.627;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3534;MQ=49.63;MQ0=0;MQRankSum=0.852;QD=23.75;ReadPosRankSum=-1.728;SB=-2892.55;TI=NM_003156;GI=STIM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,167:170:99:4038,244,0:0.982:99 chr11 4103524 rs2304891 A G 584.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.514;DP=82;Dels=0.00;FS=3.102;HRun=0;HaplotypeScore=4.6743;MQ=48.67;MQ0=0;MQRankSum=1.125;QD=7.13;ReadPosRankSum=-0.698;SB=-371.95;TI=NM_003156;GI=STIM1;FC=Synonymous_Q360Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,29:82:99:615,0,1158:0.354:99 chr11 4113395 rs1561876 G A 1112.86 PASS AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=55.27;MQ0=0;QD=24.19;SB=-833.60;TI=NM_003156;GI=STIM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,46:46:81.25:1146,81,0:1.000:81 chr11 5248243 rs713040 A G 1240.54 PASS AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.50;MQ0=0;QD=22.56;SB=-980.11;TI=NM_000518;GI=HBB;FC=Synonymous_H3H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,55:55:87.29:1274,87,0:1.000:87 chr11 6411935 rs1050228 T C 394.05 LowDP AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.08;MQ0=0;QD=24.63;SB=-193.23;TI=NM_000543,NM_001007593;GI=SMPD1,SMPD1;FC=Missense_V36A,Missense_V36A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,15:16:30.10:427,30,0:1.000:30 chr11 6634149 rs7488 C T 1008.91 PASS AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.89;MQ0=0;QD=28.83;SB=-638.50;TI=NM_000391;GI=TPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,35:35:75.25:1042,75,0:1.000:75 chr11 6634189 rs7487 G A 587.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.961;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7880;MQ=47.73;MQ0=0;MQRankSum=1.203;QD=10.87;ReadPosRankSum=2.069;SB=-370.71;TI=NM_000391;GI=TPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,26:54:99:617,0,656:0.481:99 chr11 6634659 rs1045450 C G 884.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.182;DP=73;Dels=0.00;FS=2.016;HRun=5;HaplotypeScore=4.5405;MQ=54.75;MQ0=0;MQRankSum=-0.480;QD=12.11;ReadPosRankSum=-2.223;SB=-402.21;TI=NM_000391;GI=TPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,37:73:99:914,0,818:0.507:99 chr11 6636106 rs1128396 T A 596.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.588;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9300;MQ=45.23;MQ0=0;MQRankSum=1.980;QD=7.95;ReadPosRankSum=1.206;SB=-517.24;TI=NM_000391;GI=TPP1;FC=Synonymous_G514G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,32:75:99:627,0,860:0.432:99 chr11 17449929 rs1799858 C T 849.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.531;DP=69;Dels=0.00;FS=0.960;HRun=2;HaplotypeScore=2.6274;MQ=46.66;MQ0=0;MQRankSum=-0.527;QD=12.32;ReadPosRankSum=-0.974;SB=-620.12;TI=NM_000352;GI=ABCC8;FC=Synonymous_K649K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,39:69:99:880,0,603:0.565:99 chr11 17452492 rs1799857 G A 1006.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.379;DP=87;Dels=0.00;FS=0.812;HRun=0;HaplotypeScore=3.5764;MQ=46.36;MQ0=0;MQRankSum=0.677;QD=11.57;ReadPosRankSum=-1.009;SB=-675.23;TI=NM_000352;GI=ABCC8;FC=Synonymous_H562H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,47:87:99:1037,0,808:0.540:99 chr11 17515459 rs10649542 C CTGTT 3404.34 PASS AC=2;AF=1.00;AN=2;DP=47;FS=0.000;HRun=0;HaplotypeScore=28.2704;MQ=54.29;MQ0=0;QD=72.43;SB=-1521.21;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,46:47:99:3404,141,0:0.979:99 chr11 17515668 rs1055581 T C 2590.84 PASS AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=47.51;MQ0=0;QD=23.77;SB=-2033.94;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,109:109:99:2624,184,0:1.000:99 chr11 17515693 rs1055577 G A 2047.60 PASS AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=48.85;MQ0=0;QD=24.67;SB=-1436.39;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,83:83:99:2081,147,0:1.000:99 chr11 17515833 rs1055574 A G 1745.41 PASS AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8932;MQ=47.49;MQ0=0;QD=23.91;SB=-1363.25;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,73:73:99:1778,123,0:1.000:99 chr11 17519742 rs1064074 C G 2584.92 PASS AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=49.40;MQ0=0;QD=23.08;SB=-2046.90;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Missense_E819D,Missense_E519D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,112:112:99:2618,181,0:1.000:99 chr11 17522638 rs10832796 G A 531.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.349;DP=44;Dels=0.00;FS=2.649;HRun=1;HaplotypeScore=1.7882;MQ=46.93;MQ0=0;MQRankSum=0.227;QD=12.08;ReadPosRankSum=-0.203;SB=-380.08;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Synonymous_V780V,Synonymous_V480V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,26:44:99:562,0,373:0.591:99 chr11 17531146 rs17776775 G A 95.10 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.030;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=46.26;MQ0=0;MQRankSum=-2.224;QD=5.94;ReadPosRankSum=-0.488;SB=-60.54;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Synonymous_A590A,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,6:16:99:125,0,251:0.375:95 chr11 17542439 rs2240487 T C 2084.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.880;DP=159;Dels=0.00;FS=0.607;HRun=1;HaplotypeScore=8.3203;MQ=46.32;MQ0=0;MQRankSum=-1.488;QD=13.11;ReadPosRankSum=-0.913;SB=-1567.38;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Synonymous_P396P,Synonymous_P396P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,97:159:99:2114,0,1290:0.610:99 chr11 34937697 rs2016814 T C 1570.65 PASS AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.0514;MQ=48.22;MQ0=0;QD=23.80;SB=-1178.72;TI=NM_015957,NM_001135024,NM_003477,NM_001166158;GI=APIP,PDHX,PDHX,PDHX;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,66:66:99:1604,114,0:1.000:99 chr11 34937813 rs2956114 G A 1822.85 PASS AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1422;MQ=44.66;MQ0=0;QD=23.98;SB=-1312.96;TI=NM_015957,NM_001135024,NM_003477,NM_001166158;GI=APIP,PDHX,PDHX,PDHX;FC=Missense_R7W,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,75:76:99:1856,135,0:1.000:99 chr11 34937884 rs2956113 G A 340.70 LowGQ;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=-0.510;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=53.09;MQ0=0;MQRankSum=1.531;QD=20.04;ReadPosRankSum=-0.919;SB=-148.76;TI=NM_015957,NM_001135024,NM_003477,NM_001166158;GI=APIP,PDHX,PDHX,PDHX;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,16:17:11.41:373,11,0:0.941:11 chr11 34937901 rs2956112;rs11549076 A G 219.76 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.91;MQ0=0;QD=19.98;SB=-132.02;TI=NM_015957,NM_001135024,NM_003477,NM_001166158;GI=APIP,PDHX,PDHX,PDHX;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,11:11:21.03:253,21,0:1.000:21 chr11 34937931 rs2956111 G A 153.49 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.12;MQ0=0;QD=25.58;SB=15.10;TI=NM_015957,NM_001135024,NM_003477,NM_001166158;GI=APIP,PDHX,PDHX,PDHX;FC=Silent,Missense_G5S,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:6:15.05:186,15,0:1.000:15 chr11 34938115 rs2956110 C A 978.66 PASS AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.42;MQ0=0;QD=29.66;SB=-377.02;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,33:33:75.24:1012,75,0:1.000:75 chr11 34938265 rs2956109 C T 2577.65 PASS AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.25;MQ0=0;QD=24.32;SB=-1931.12;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Silent,Synonymous_P21P,Synonymous_P21P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,106:106:99:2611,181,0:1.000:99 chr11 34991727 rs497582 T C 8172.53 PASS AC=2;AF=1.00;AN=2;DP=277;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3612;MQ=53.44;MQ0=0;QD=29.50;SB=-3708.78;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Synonymous_V271V,Synonymous_V286V,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,277:277:99:8173,593,0:1.000:99 chr11 35017205 rs9326 G T 916.08 PASS AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.74;MQ0=0;QD=24.76;SB=-719.72;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,37:37:66.22:949,66,0:1.000:66 chr11 35017363 rs7808 C A 4394.06 PASS AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6689;MQ=52.13;MQ0=0;QD=26.16;SB=-2483.70;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,168:168:99:4394,313,0:1.000:99 chr11 36589622 rs872053 A G 1054.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.726;DP=102;Dels=0.00;FS=2.580;HRun=0;HaplotypeScore=1.9995;MQ=49.79;MQ0=0;MQRankSum=-1.449;QD=10.34;ReadPosRankSum=-1.597;SB=-653.46;TI=NM_000448;GI=RAG1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,50:102:99:1085,0,1152:0.490:99 chr11 36595600 rs3740955 A G 1496.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.897;DP=147;Dels=0.00;FS=0.612;HRun=0;HaplotypeScore=0.8941;MQ=50.19;MQ0=0;MQRankSum=2.292;QD=10.18;ReadPosRankSum=0.851;SB=-1162.14;TI=NM_000448;GI=RAG1;FC=Missense_H249R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,72:147:99:1526,0,1541:0.490:99 chr11 36597734 rs1980131 A G 734.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.839;DP=51;Dels=0.00;FS=1.117;HRun=0;HaplotypeScore=5.6790;MQ=56.92;MQ0=0;MQRankSum=-0.087;QD=14.41;ReadPosRankSum=0.492;SB=-483.59;TI=NM_000448;GI=RAG1;FC=Synonymous_A960A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,31:51:99:765,0,571:0.608:99 chr11 36599069 rs4151040 C T 630.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.291;DP=50;Dels=0.00;FS=2.512;HRun=0;HaplotypeScore=1.8888;MQ=49.18;MQ0=0;MQRankSum=1.330;QD=12.60;ReadPosRankSum=1.816;SB=-257.08;TI=NM_000448;GI=RAG1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,26:50:99:660,0,525:0.520:99 chr11 36600232 rs4151045 T C 449.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.341;DP=51;Dels=0.00;FS=3.978;HRun=0;HaplotypeScore=2.9224;MQ=55.27;MQ0=0;MQRankSum=-0.086;QD=8.82;ReadPosRankSum=-0.029;SB=-275.52;TI=NM_000448;GI=RAG1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,22:51:99:480,0,643:0.431:99 chr11 36600684 rs4151048 A AT 3280.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.613;DP=240;FS=0.000;HRun=7;HaplotypeScore=163.7774;MQ=57.43;MQ0=0;MQRankSum=2.542;QD=13.67;ReadPosRankSum=-0.745;SB=-1483.28;TI=NM_000448;GI=RAG1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:115,120:240:99:3281,0,2796:0.511:99 chr11 36601096 . C CT 341.60 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.423;DP=116;FS=1.537;HRun=12;HaplotypeScore=364.8316;MQ=53.49;MQ0=0;MQRankSum=-1.161;QD=2.94;ReadPosRankSum=0.073;SB=-179.15;TI=NM_000448;GI=RAG1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,26:116:99:381,0,1486:0.263:99 chr11 36601170 rs1056403 G A 1616.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.016;DP=100;Dels=0.00;FS=20.844;HRun=0;HaplotypeScore=14.4504;MQ=56.41;MQ0=0;MQRankSum=0.724;QD=16.17;ReadPosRankSum=0.244;SB=-671.18;TI=NM_000448;GI=RAG1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,55:100:99:1647,0,1281:0.567:99 chr11 36613807 rs10836573 T C 1196.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.521;DP=107;Dels=0.00;FS=0.723;HRun=0;HaplotypeScore=3.6817;MQ=52.94;MQ0=0;MQRankSum=0.583;QD=11.18;ReadPosRankSum=1.194;SB=-731.46;TI=NM_000536;GI=RAG2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,51:107:99:1226,0,1390:0.477:99 chr11 36619761 rs73455545 A G 750.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.408;DP=75;Dels=0.00;FS=0.874;HRun=1;HaplotypeScore=0.8941;MQ=47.48;MQ0=0;MQRankSum=-1.766;QD=10.00;ReadPosRankSum=0.154;SB=-525.73;TI=NM_000536,NM_138787,NR_033666;GI=RAG2,C11orf74,RAG2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,36:75:99:780,0,826:0.480:99 chr11 45832935 rs1139266 G A 133.58 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.03;MQ0=0;QD=26.72;SB=-80.20;TI=NM_001145266,NM_001145265,NM_018389;GI=SLC35C1,SLC35C1,SLC35C1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:5:12.04:166,12,0:1.000:12 chr11 45833960 rs4756026 C T 518.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.483;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=44.40;MQ0=0;MQRankSum=0.558;QD=10.17;ReadPosRankSum=-1.051;SB=-482.29;TI=NM_001145266,NM_001145265,NM_018389;GI=SLC35C1,SLC35C1,SLC35C1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,28:51:99:549,0,442:0.549:99 chr11 45834044 rs4756027 C T 596.32 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=46.98;MQ0=0;QD=22.94;SB=-430.25;TI=NM_001145266,NM_001145265,NM_018389;GI=SLC35C1,SLC35C1,SLC35C1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,25:26:45.15:629,45,0:1.000:45 chr11 47238522 rs326212 T C 2790.39 PASS AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=46.79;MQ0=0;QD=24.06;SB=-2227.83;TI=NM_000107;GI=DDB2;FC=Synonymous_T126T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,116:116:99:2823,196,0:1.000:99 chr11 47459469 rs45617144 G A 1218.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.647;DP=153;Dels=0.00;FS=0.610;HRun=0;HaplotypeScore=6.3265;MQ=46.60;MQ0=0;MQRankSum=0.132;QD=7.97;ReadPosRankSum=-0.028;SB=-893.56;TI=NM_005055,NM_032645;GI=RAPSN,RAPSN;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:92,61:153:99:1249,0,2062:0.399:99 chr11 47460306 rs7126210 A G 1199.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.844;DP=101;Dels=0.00;FS=5.033;HRun=2;HaplotypeScore=5.4139;MQ=47.82;MQ0=0;MQRankSum=-0.509;QD=11.87;ReadPosRankSum=-0.400;SB=-837.45;TI=NM_005055,NM_032645;GI=RAPSN,RAPSN;FC=Synonymous_P381P,Synonymous_P322P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,56:101:99:1229,0,931:0.554:99 chr11 47463220 rs45603036 C T 733.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.927;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7776;MQ=44.98;MQ0=0;MQRankSum=-0.580;QD=9.79;ReadPosRankSum=-1.914;SB=-522.43;TI=NM_005055,NM_032645;GI=RAPSN,RAPSN;FC=Synonymous_Q285Q,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,34:75:99:764,0,878:0.459:99 chr11 47469439 rs7111873 A G 612.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.671;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=45.46;MQ0=0;MQRankSum=-1.427;QD=13.93;ReadPosRankSum=2.452;SB=-414.43;TI=NM_005055,NM_032645;GI=RAPSN,RAPSN;FC=Synonymous_Y152Y,Synonymous_Y152Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,28:44:99:643,0,314:0.636:99 chr11 47469483 rs35810986 C T 751.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.503;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9995;MQ=48.94;MQ0=0;MQRankSum=-2.371;QD=15.04;ReadPosRankSum=-0.191;SB=-536.44;TI=NM_005055,NM_032645;GI=RAPSN,RAPSN;FC=Missense_V138I,Missense_V138I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,35:50:99:782,0,270:0.700:99 chr11 47602410 . G C 863.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.360;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=46.73;MQ0=0;MQRankSum=-0.568;QD=8.64;ReadPosRankSum=1.675;SB=-612.28;TI=NM_004551;GI=NDUFS3;FC=Missense_E85D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,41:100:99:894,0,1287:0.410:99 chr11 65485727 rs521678 T G 1021.47 PASS AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=51.84;MQ0=0;QD=23.22;SB=-813.02;TI=NM_182709,NM_006388,NM_182710,NM_032193;GI=KAT5,KAT5,KAT5,RNASEH2C;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,44:44:72.24:1054,72,0:1.000:72 chr11 65636053 rs601314 T C 1402.30 PASS AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7829;MQ=43.79;MQ0=0;QD=22.99;SB=-1094.97;TI=NM_016938;GI=EFEMP2;FC=Missense_I259V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,59:61:99:1435,99,0:1.000:99 chr11 65638719 rs633800 G A 679.19 PASS AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.01;MQ0=0;QD=21.91;SB=-596.71;TI=NM_016938;GI=EFEMP2;FC=Synonymous_H92H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,31:31:48.16:712,48,0:1.000:48 chr11 65640204 rs2303384 C T 1084.13 PASS AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7081;MQ=44.29;MQ0=0;QD=24.09;SB=-801.27;TI=NM_016938;GI=EFEMP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,45:45:81.26:1117,81,0:1.000:81 chr11 66617790 rs2229745 G A 1171.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.491;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=45.34;MQ0=0;MQRankSum=-1.847;QD=8.68;ReadPosRankSum=0.901;SB=-985.38;TI=NM_022172,NM_000920,NM_001040716;GI=PC,PC,PC;FC=Synonymous_N873N,Synonymous_N873N,Synonymous_N873N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,65:135:99:1202,0,1457:0.481:99 chr11 67758771 rs10896285 G T 129.89 LowGQ;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.067;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=55.72;MQ0=0;MQRankSum=-0.762;QD=14.43;ReadPosRankSum=-0.762;SB=-104.16;TI=NM_030930;GI=UNC93B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,7:9:29.71:160,0,30:0.778:29 chr11 67758895 rs7932 G C 41.48 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.365;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=43.41;MQ0=2;MQRankSum=0.000;QD=3.46;ReadPosRankSum=1.866;SB=-62.33;TI=NM_030930;GI=UNC93B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,4:12:71.48:71,0,153:0.333:41 chr11 67759254 rs7149 G C 90.65 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=26.06;MQ0=5;MQRankSum=-0.572;QD=6.97;ReadPosRankSum=-1.589;SB=-79.65;TI=NM_030930;GI=UNC93B1;FC=Missense_A519G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,11:13:32.73:121,0,33:0.846:32 chr11 67763224 rs12660 G A 1027.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.341;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=47.71;MQ0=3;MQRankSum=1.954;QD=9.79;ReadPosRankSum=1.948;SB=-771.94;TI=NM_030930;GI=UNC93B1;FC=Missense_P407L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,54:105:99:1058,0,1028:0.514:99 chr11 67765163 rs5792426 A AG 2066.18 PASS AC=2;AF=1.00;AN=2;DP=52;FS=0.000;HRun=1;HaplotypeScore=56.0565;MQ=59.85;MQ0=0;QD=39.73;SB=-1047.71;TI=NM_030930;GI=UNC93B1;FC=Frameshift;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,50:52:99:2108,150,0:1.000:99 chr11 67814979 rs2471829 G C 1464.79 PASS AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.20;MQ0=0;QD=22.89;SB=-1229.94;TI=NM_006019,NM_006053;GI=TCIRG1,TCIRG1;FC=Synonymous_L415L,Synonymous_L199L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,64:64:99:1498,102,0:1.000:99 chr11 68523910 rs2278908 T C 824.57 PASS AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.31;MQ0=0;QD=26.60;SB=-562.36;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,31:31:60.20:858,60,0:1.000:60 chr11 68524053 rs2278907 G A 293.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.370;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48.36;MQ0=0;MQRankSum=1.446;QD=12.75;ReadPosRankSum=1.077;SB=-168.86;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,12:23:99:323,0,248:0.522:99 chr11 68549340 rs2228502 A G 4212.35 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.673;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3104;MQ=51.58;MQ0=0;MQRankSum=0.186;QD=23.80;ReadPosRankSum=-1.536;SB=-3360.16;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Synonymous_F417F,Synonymous_F417F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,176:177:99:4212,292,0:0.994:99 chr11 68560787 rs11228356 C T 721.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.910;DP=98;Dels=0.00;FS=1.830;HRun=1;HaplotypeScore=3.5981;MQ=49.10;MQ0=0;MQRankSum=2.208;QD=7.36;ReadPosRankSum=0.581;SB=-301.40;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Synonymous_E321E,Synonymous_E321E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,31:98:99:751,0,1553:0.316:99 chr11 68671419 rs4930624 C T 1435.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DP=145;Dels=0.00;FS=0.622;HRun=0;HaplotypeScore=3.7560;MQ=49.28;MQ0=0;MQRankSum=-0.137;QD=9.90;ReadPosRankSum=-1.342;SB=-1034.73;TI=NM_002180;GI=IGHMBP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,67:145:99:1465,0,1680:0.462:99 chr11 68671477 rs1249463 T C 3678.88 PASS AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0071;MQ=50.57;MQ0=0;QD=24.36;SB=-2685.83;TI=NM_002180;GI=IGHMBP2;FC=Synonymous_L19L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,148:151:99:3679,259,0:1.000:99 chr11 68673630 rs34617762 C T 956.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.268;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=48.43;MQ0=0;MQRankSum=-0.107;QD=14.06;ReadPosRankSum=0.082;SB=-661.94;TI=NM_002180;GI=IGHMBP2;FC=Synonymous_Y60Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,42:68:99:986,0,525:0.618:99 chr11 68678962 rs560096 T C 1849.84 PASS AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=45.15;MQ0=0;QD=23.12;SB=-1546.33;TI=NM_002180;GI=IGHMBP2;FC=Missense_L201S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,80:80:99:1883,129,0:1.000:99 chr11 68682402 rs10896380 A G 280.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.391;DP=40;Dels=0.00;FS=1.264;HRun=0;HaplotypeScore=0.8941;MQ=43.38;MQ0=0;MQRankSum=-0.168;QD=7.01;ReadPosRankSum=0.643;SB=-199.04;TI=NM_002180;GI=IGHMBP2;FC=Missense_I275V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,15:40:99:310,0,528:0.375:99 chr11 68701948 rs11228413 C T 1523.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.097;DP=168;Dels=0.00;FS=1.217;HRun=1;HaplotypeScore=5.6258;MQ=47.06;MQ0=0;MQRankSum=-1.287;QD=9.07;ReadPosRankSum=-1.020;SB=-1212.34;TI=NM_002180;GI=IGHMBP2;FC=Synonymous_V518V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,76:168:99:1553,0,1963:0.455:99 chr11 68704028 rs2236654 C T 359.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.094;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=45.96;MQ0=0;MQRankSum=-1.402;QD=10.89;ReadPosRankSum=2.022;SB=-310.47;TI=NM_002180;GI=IGHMBP2;FC=Missense_R694W;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,19:33:99:389,0,294:0.576:99 chr11 68705674 rs17612126 C A 1125.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DP=105;Dels=0.00;FS=1.616;HRun=1;HaplotypeScore=3.6482;MQ=46.47;MQ0=0;MQRankSum=-1.808;QD=10.72;ReadPosRankSum=0.728;SB=-773.54;TI=NM_002180;GI=IGHMBP2;FC=Missense_T879K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,53:105:99:1156,0,1074:0.510:99 chr11 68707454 rs564244 T C 432.07 LowDP AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.72;MQ0=0;QD=24.00;SB=-280.40;TI=NM_002180;GI=IGHMBP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,18:18:33.11:465,33,0:1.000:33 chr11 68707626 rs3750980 C T 831.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.311;DP=90;Dels=0.00;FS=1.721;HRun=0;HaplotypeScore=6.4425;MQ=47.29;MQ0=0;MQRankSum=-1.872;QD=9.24;ReadPosRankSum=-0.837;SB=-649.10;TI=NM_002180;GI=IGHMBP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,42:90:99:862,0,997:0.467:99 chr11 68707864 rs9769 C T 37.98 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=60.00;MQ0=0;MQRankSum=1.026;QD=9.49;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_002180;GI=IGHMBP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:67.97:68,0,69:0.500:37 chr11 68707880 rs9095 T C 22.47 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.358;QD=4.49;ReadPosRankSum=-1.231;SB=-0.01;TI=NM_002180;GI=IGHMBP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,3:5:52.44:52,0,68:0.600:22 chr11 71145687 rs7690 T C 762.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.791;DP=69;Dels=0.00;FS=0.945;HRun=0;HaplotypeScore=1.7882;MQ=44.90;MQ0=0;MQRankSum=0.477;QD=11.05;ReadPosRankSum=1.864;SB=-616.51;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,38:69:99:793,0,667:0.551:99 chr11 71145778 rs1044535 G A 125.01 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.978;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.98;MQ0=0;MQRankSum=0.437;QD=9.62;ReadPosRankSum=-0.978;SB=-138.03;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,8:13:99:155,0,139:0.615:99 chr11 71146577 rs909217 G A 156.78 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.530;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.29;MQ0=0;MQRankSum=1.766;QD=8.71;ReadPosRankSum=0.706;SB=-137.23;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_G424G,Synonymous_G424G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,9:18:99:187,0,190:0.500:99 chr11 71146691 rs760241 A G 75.00 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.597;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.47;MQ0=0;MQRankSum=1.034;QD=6.82;ReadPosRankSum=-0.678;SB=-52.23;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_D386D,Synonymous_D386D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,4:11:99:105,0,140:0.364:75 chr11 71152461 rs949177 A G 675.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.577;DP=88;Dels=0.00;FS=0.826;HRun=0;HaplotypeScore=5.5758;MQ=49.84;MQ0=0;MQRankSum=1.060;QD=7.67;ReadPosRankSum=-0.819;SB=-441.34;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_N146N,Synonymous_N146N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,33:88:99:705,0,1138:0.375:99 chr11 71155153 rs1790334 A G 662.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.585;DP=66;Dels=0.00;FS=0.928;HRun=1;HaplotypeScore=5.7319;MQ=42.83;MQ0=0;MQRankSum=0.571;QD=10.03;ReadPosRankSum=1.097;SB=-571.91;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_T69T,Synonymous_T69T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,34:66:99:692,0,636:0.515:99 chr11 71155171 rs1044482 C T 659.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.563;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8938;MQ=43.00;MQ0=0;MQRankSum=-0.289;QD=10.30;ReadPosRankSum=2.173;SB=-528.20;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_Q63Q,Synonymous_Q63Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,34:64:99:689,0,602:0.531:99 chr11 71159429 rs4944946 G A 598.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.556;DP=69;Dels=0.00;FS=0.928;HRun=1;HaplotypeScore=0.8667;MQ=49.61;MQ0=0;MQRankSum=-1.195;QD=8.67;ReadPosRankSum=-0.474;SB=-446.88;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,33:69:99:628,0,744:0.478:99 chr11 76910766 rs7927472 C T 439.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.833;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.41;MQ0=0;MQRankSum=-1.190;QD=6.66;ReadPosRankSum=0.119;SB=-379.78;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Synonymous_S1585S,Synonymous_S1547S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,25:66:99:470,0,866:0.379:99 chr11 76912636 rs2276288 A T 694.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.693;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6495;MQ=42.89;MQ0=0;MQRankSum=1.503;QD=10.21;ReadPosRankSum=1.858;SB=-508.82;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Missense_S1666C,Missense_S1628C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,34:68:99:724,0,710:0.500:99 chr11 76917220 rs2276293 A G 1060.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.585;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.0881;MQ=46.41;MQ0=0;MQRankSum=0.035;QD=9.38;ReadPosRankSum=1.480;SB=-859.54;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Synonymous_K1905K,Synonymous_K1867K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,53:113:99:1090,0,1170:0.473:99 chr11 76919478 rs948962 C A 1364.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.921;DP=153;Dels=0.00;FS=1.311;HRun=0;HaplotypeScore=6.5309;MQ=47.55;MQ0=0;MQRankSum=-2.529;QD=8.92;ReadPosRankSum=0.892;SB=-929.80;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Missense_L1954I,Missense_L1916I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,70:153:99:1394,0,1631:0.458:99 chr11 76922946 rs11237123 G A 1316.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.203;DP=140;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.5350;MQ=47.16;MQ0=0;MQRankSum=-0.773;QD=9.40;ReadPosRankSum=0.286;SB=-1042.06;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Synonymous_K2106K,Synonymous_K2068K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,68:140:99:1346,0,1542:0.486:99 chr11 77811990 rs1263505 T C 1497.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.679;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.04;MQ0=0;MQRankSum=1.093;QD=23.04;ReadPosRankSum=-0.773;SB=-1188.62;TI=NM_024079,NM_001007027;GI=ALG8,ALG8;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,64:65:99:1531,105,0:0.985:99 chr11 77825320 rs665278 T C 1019.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.399;DP=109;Dels=0.00;FS=0.727;HRun=0;HaplotypeScore=6.2804;MQ=47.37;MQ0=0;MQRankSum=-1.405;QD=9.35;ReadPosRankSum=-0.126;SB=-849.04;TI=NM_024079,NM_001007027;GI=ALG8,ALG8;FC=Missense_N222S,Missense_N222S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,52:109:99:1049,0,1171:0.481:99 chr11 102980324 rs17301028 C T 1244.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.197;DP=141;Dels=0.00;FS=4.032;HRun=0;HaplotypeScore=16.8846;MQ=50.40;MQ0=0;MQRankSum=0.852;QD=8.83;ReadPosRankSum=1.893;SB=-941.54;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_D7D,Synonymous_D7D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,63:141:99:1275,0,1716:0.447:99 chr11 102988504 rs12146610 A T 1973.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.342;DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=50.54;MQ0=0;MQRankSum=-0.376;QD=10.78;ReadPosRankSum=0.247;SB=-1320.58;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Missense_Q304L,Missense_Q304L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:97,86:183:99:2003,0,2332:0.470:99 chr11 103029516 rs688906 A G 4652.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.282;DP=326;Dels=0.00;FS=1.438;HRun=0;HaplotypeScore=13.0865;MQ=55.48;MQ0=0;MQRankSum=0.827;QD=14.27;ReadPosRankSum=-1.936;SB=-1814.85;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Missense_K1413R,Missense_K1413R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:155,171:326:99:4653,0,4040:0.525:99 chr11 103036743 rs72989738 C G 2290.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.341;DP=198;Dels=0.00;FS=3.279;HRun=0;HaplotypeScore=7.2453;MQ=52.38;MQ0=0;MQRankSum=0.954;QD=11.57;ReadPosRankSum=1.090;SB=-1299.74;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Missense_N1576K,Missense_N1576K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,100:198:99:2321,0,2339:0.505:99 chr11 103047007 rs585692 C A 6445.05 PASS AC=2;AF=1.00;AN=2;DP=253;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4922;MQ=51.41;MQ0=0;QD=25.47;SB=-4615.67;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_T1906T,Synonymous_T1906T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,253:253:99:6445,454,0:1.000:99 chr11 103057048 rs658804 A G 1369.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.224;DP=154;Dels=0.00;FS=1.301;HRun=1;HaplotypeScore=5.7665;MQ=50.39;MQ0=0;MQRankSum=-1.182;QD=8.89;ReadPosRankSum=-1.113;SB=-843.47;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_R2237R,Synonymous_R2237R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:90,64:154:99:1399,0,1967:0.416:99 chr11 103058126 rs586592 C T 730.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.906;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8938;MQ=46.79;MQ0=0;MQRankSum=-0.185;QD=8.39;ReadPosRankSum=-0.399;SB=-495.98;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_H2317H,Synonymous_H2317H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,37:87:99:760,0,1227:0.425:99 chr11 103082590 rs589623 G A 5108.49 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.464;DP=183;Dels=0.00;FS=3.229;HRun=1;HaplotypeScore=7.7866;MQ=50.06;MQ0=0;MQRankSum=0.880;QD=27.92;ReadPosRankSum=1.070;SB=-3360.68;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Missense_R2871Q,Missense_R2871Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,182:183:99:5108,333,0:0.995:99 chr11 103229027 rs2566913 T C 8340.94 PASS AC=2;AF=1.00;AN=2;DP=314;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.3953;MQ=52.45;MQ0=0;QD=26.56;SB=-5511.75;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_D4039D,Synonymous_D4032D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,313:314:99:8341,590,0:1.000:99 chr11 107992325 rs3741055 T A 1392.37 PASS AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=52.14;MQ0=0;QD=25.78;SB=-1003.86;TI=NM_000019;GI=ACAT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,53:54:99:1425,102,0:1.000:99 chr11 107992346 rs3741056 G C 1311.40 PASS AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=54.23;MQ0=0;QD=24.74;SB=-924.90;TI=NM_000019;GI=ACAT1;FC=Missense_A5P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,53:53:96.31:1344,96,0:1.000:96 chr11 108093833 rs189037 G A 1870.09 PASS AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8752;MQ=52.20;MQ0=0;QD=23.67;SB=-1338.06;TI=NM_000051;GI=ATM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,79:79:99:1903,132,0:1.000:99 chr11 108098592 rs3218690 T C 6500.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.005;DP=543;Dels=0.00;FS=1.409;HRun=0;HaplotypeScore=27.0415;MQ=56.47;MQ0=0;MQRankSum=0.633;QD=11.97;ReadPosRankSum=-2.663;SB=-3478.21;TI=NM_000051;GI=ATM;FC=Synonymous_Y54Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:272,271:543:99:6500,0,6985:0.499:99 chr11 108100014 . A G 3439.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.087;DP=279;Dels=0.00;FS=8.968;HRun=1;HaplotypeScore=31.8950;MQ=52.17;MQ0=1;MQRankSum=1.439;QD=12.33;ReadPosRankSum=0.674;SB=-1741.30;TI=NM_000051;GI=ATM;FC=Missense_S99G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:142,134:278:99:3439,0,3641:0.486:99 chr11 108183167 rs659243 A G 9582.46 PASS AC=2;AF=1.00;AN=2;DP=394;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.1934;MQ=52.32;MQ0=0;QD=24.32;SB=-7554.65;TI=NM_000051;GI=ATM;FC=Missense_N1983S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,394:394:99:9582,665,0:1.000:99 chr11 108236756 rs11336610 CA C 177.77 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.167;DP=28;FS=0.000;HRun=19;HaplotypeScore=175.2485;MQ=36.51;MQ0=0;MQRankSum=-0.033;QD=6.35;ReadPosRankSum=1.033;SB=-101.51;TI=NM_000051;GI=ATM;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,11:28:30.17:217,0,30:0.440:30 chr11 108236783 rs227092 G T 624.99 PASS AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.9197;MQ=36.05;MQ0=0;QD=26.04;SB=-305.54;TI=NM_000051;GI=ATM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,24:24:60.12:658,60,0:1.000:60 chr11 108237839 rs227091 C T 175.98 LowGQ;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.742;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.28;MQ0=0;MQRankSum=0.742;QD=25.14;ReadPosRankSum=0.742;SB=-60.61;TI=NM_000051;GI=ATM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,6:7:18.02:209,18,0:0.857:18 chr11 108239015 . CA C 643.82 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.244;DP=185;FS=2.811;HRun=17;HaplotypeScore=496.0783;MQ=48.05;MQ0=0;MQRankSum=2.334;QD=3.48;ReadPosRankSum=0.705;SB=-291.44;TI=NM_000051;GI=ATM;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:106,37:185:99:683,0,1205:0.259:99 chr11 108239628 rs4585 G T 5054.41 PASS AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=52.29;MQ0=0;QD=25.66;SB=-3497.64;TI=NM_000051;GI=ATM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,197:197:99:5054,355,0:1.000:99 chr11 111654378 . A G 1398.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.488;DP=124;Dels=0.00;FS=0.680;HRun=0;HaplotypeScore=1.7882;MQ=51.92;MQ0=0;MQRankSum=1.177;QD=11.28;ReadPosRankSum=1.368;SB=-1094.27;TI=NM_001077691,NM_001077692,NM_024740,NM_001077690;GI=ALG9,ALG9,ALG9,ALG9;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,69:124:99:1428,0,1146:0.556:99 chr11 111654648 rs2554994 T A 142.94 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.380;DP=12;Dels=0.00;FS=2.463;HRun=15;HaplotypeScore=0.9997;MQ=54.35;MQ0=0;MQRankSum=-1.000;QD=11.91;ReadPosRankSum=-0.244;SB=-64.28;TI=NM_001077691,NM_001077692,NM_024740,NM_001077690;GI=ALG9,ALG9,ALG9,ALG9;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,7:12:99:173,0,105:0.583:99 chr11 111655441 . C CA 92.60 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.245;DP=71;FS=0.000;HRun=11;HaplotypeScore=111.0577;MQ=51.35;MQ0=0;MQRankSum=3.220;QD=1.30;ReadPosRankSum=-0.054;SB=-55.52;TI=NM_001077691,NM_001077692,NM_024740,NM_001077690;GI=ALG9,ALG9,ALG9,ALG9;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,12:71:99:132,0,1188:0.207:92 chr11 111724133 rs10502151 C T 1426.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.398;DP=124;Dels=0.00;FS=1.427;HRun=0;HaplotypeScore=4.4704;MQ=51.40;MQ0=0;MQRankSum=0.959;QD=11.50;ReadPosRankSum=2.411;SB=-1005.62;TI=NM_001077691,NM_001077692,NM_024740,NM_001077690;GI=ALG9,ALG9,ALG9,ALG9;FC=Missense_V118I,Missense_V118I,Missense_C289Y,Missense_C289Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,66:124:99:1456,0,1286:0.532:99 chr11 111742145 rs10708475 CG C 2793.94 PASS AC=2;AF=1.00;AN=2;DP=63;FS=0.000;HRun=4;HaplotypeScore=66.2151;MQ=50.90;MQ0=0;QD=44.35;SB=-1214.62;TI=NM_024740,NM_001077690;GI=ALG9,ALG9;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,63:63:99:2836,190,0:1.000:99 chr11 118186754 . T C 10.39 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DP=10;Dels=0.00;FS=3.332;HRun=3;HaplotypeScore=9.8698;MQ=38.71;MQ0=0;MQRankSum=-1.580;QD=1.04;ReadPosRankSum=1.214;SB=-0.01;TI=NM_000733;GI=CD3E;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,3:10:39.96:40,0,184:0.300:10 chr11 118215075 . AGGCT A 1718.99 PASS AC=2;AF=1.00;AN=2;DP=32;FS=0.000;HRun=0;HaplotypeScore=9.0062;MQ=46.32;MQ0=0;QD=53.72;SB=-817.59;TI=NM_000073;GI=CD3G;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,28:32:84.29:1761,84,0:0.875:84 chr11 118221349 rs3753059 T C 3192.47 PASS AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8835;MQ=50.06;MQ0=0;QD=24.00;SB=-2377.36;TI=NM_000073;GI=CD3G;FC=Synonymous_A130A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,133:133:99:3225,226,0:1.000:99 chr11 118221350 rs3753058 G T 3171.73 PASS AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8835;MQ=49.97;MQ0=0;QD=24.03;SB=-2374.50;TI=NM_000073;GI=CD3G;FC=Missense_V131F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,132:132:99:3205,223,0:1.000:99 chr11 118224268 rs45477194 G T 817.86 PASS AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1686;MQ=29.37;MQ0=0;QD=28.20;SB=-204.58;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,29:29:81.12:851,81,0:1.000:81 chr11 118224418 . G T 18.18 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=4;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.8941;MQ=33.24;MQ0=0;MQRankSum=-1.026;QD=4.54;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:35.74:48,0,36:0.500:18 chr11 118224420 . A T 25.98 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=1.8730;MQ=33.24;MQ0=0;MQRankSum=-1.026;QD=6.49;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:35.74:56,0,36:0.500:25 chr11 118898435 rs5795159 AC A 2242.52 PASS AC=2;AF=1.00;AN=2;DP=56;FS=0.000;HRun=2;HaplotypeScore=42.2131;MQ=44.44;MQ0=0;QD=40.05;SB=-1072.71;TI=NM_001164280,NM_001467,NM_001164278,NM_001164279,NM_001164277;GI=SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4;FC=Frameshift,Frameshift,Frameshift,Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,55:56:99:2285,166,0:1.000:99 chr11 118901166 rs2846281 C G 1746.40 PASS AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5436;MQ=46.82;MQ0=0;QD=22.98;SB=-1461.21;TI=NM_001467,NM_001164278,NM_001164279,NM_001164277;GI=SLC37A4,SLC37A4,SLC37A4,SLC37A4;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,76:76:99:1779,123,0:1.000:99 chr11 118901262 rs3759012 C T 97.67 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.247;DP=17;Dels=0.00;FS=2.158;HRun=0;HaplotypeScore=1.6988;MQ=53.97;MQ0=0;MQRankSum=0.054;QD=5.75;ReadPosRankSum=3.091;SB=-56.58;TI=NM_001467,NM_001164278,NM_001164279,NM_001164277;GI=SLC37A4,SLC37A4,SLC37A4,SLC37A4;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,6:17:99:128,0,258:0.375:97 chr11 118901614 rs1784559 A T 148.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.263;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8235;MQ=51.84;MQ0=0;MQRankSum=-1.809;QD=6.73;ReadPosRankSum=-0.102;SB=-118.42;TI=NM_001467,NM_001164278,NM_001164279,NM_001164277;GI=SLC37A4,SLC37A4,SLC37A4,SLC37A4;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,8:22:99:178,0,270:0.364:99 chr11 118967291 rs7759 A G 366.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.576;DP=39;Dels=0.00;FS=4.492;HRun=0;HaplotypeScore=1.8874;MQ=46.29;MQ0=0;MQRankSum=-0.492;QD=9.39;ReadPosRankSum=-0.941;SB=-240.80;TI=NM_001382;GI=DPAGT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,20:39:99:396,0,411:0.513:99 chr11 118967524 rs8551 C T 1097.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.830;DP=125;Dels=0.00;FS=0.667;HRun=0;HaplotypeScore=1.7882;MQ=45.96;MQ0=0;MQRankSum=-0.791;QD=8.78;ReadPosRankSum=-0.340;SB=-888.28;TI=NM_001382;GI=DPAGT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,57:125:99:1127,0,1386:0.456:99 chr11 118967758 rs643788 T C 1662.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.575;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1489;MQ=50.37;MQ0=0;MQRankSum=3.245;QD=11.39;ReadPosRankSum=2.556;SB=-1362.19;TI=NM_001382;GI=DPAGT1;FC=Missense_I393V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,81:146:99:1693,0,1314:0.555:99 chr11 121178302 rs1061332 A C 665.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.080;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.9508;MQ=51.88;MQ0=0;MQRankSum=-0.257;QD=8.02;ReadPosRankSum=-1.520;SB=-455.48;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,32:83:99:696,0,1191:0.386:99 chr11 121179847 rs2060008 A T 749.87 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.214;DP=50;Dels=0.00;FS=9.238;HRun=1;HaplotypeScore=6.4759;MQ=58.31;MQ0=0;MQRankSum=1.505;QD=15.00;ReadPosRankSum=0.981;SB=-114.76;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,24:50:99:780,0,724:0.480:99 chr11 121181164 . CTT C 194.22 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.510;DP=32;FS=0.000;HRun=19;HaplotypeScore=115.4026;MQ=37.91;MQ0=0;MQRankSum=0.994;QD=6.07;ReadPosRankSum=-2.336;SB=-133.56;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,5:32:99:230,0,178:0.294:99 chr11 121181343 . A T 301.34 SB;LowDP AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=6.7656;MQ=29.00;MQ0=0;QD=30.13;SB=-0.01;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,10:10:30.08:334,30,0:1.000:30 chr11 121181345 . A T 301.34 SB;LowDP AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=7.7321;MQ=29.00;MQ0=0;QD=30.13;SB=-0.01;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,10:10:30.08:334,30,0:1.000:30 chr11 121181362 . G A 256.40 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9330;MQ=29.00;MQ0=0;QD=28.49;SB=-0.01;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,9:9:27.06:289,27,0:1.000:27 chr11 121183145 rs35288685 T C 2250.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DP=186;Dels=0.00;FS=5.242;HRun=0;HaplotypeScore=19.1017;MQ=54.81;MQ0=0;MQRankSum=1.390;QD=12.10;ReadPosRankSum=-0.571;SB=-1292.94;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,89:186:99:2281,0,2325:0.484:99 chr11 128737188 rs2855790 A G 4677.94 PASS AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9159;MQ=51.41;MQ0=0;QD=25.99;SB=-3009.16;TI=NM_153765,NM_153764,NM_153766,NM_153767;GI=KCNJ1,KCNJ1,KCNJ1,KCNJ1;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,180:180:99:4678,331,0:1.000:99 chr12 6456869 . G A 883.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48.16;MQ0=0;MQRankSum=-2.488;QD=10.39;ReadPosRankSum=-2.210;SB=-648.61;TI=NM_001159576,NM_001038,NM_001159575;GI=SCNN1A,SCNN1A,SCNN1A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,43:85:99:913,0,844:0.512:99 chr12 6484709 rs10849447 T C 1286.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.841;DP=140;Dels=0.00;FS=0.638;HRun=1;HaplotypeScore=2.7312;MQ=48.59;MQ0=0;MQRankSum=-0.517;QD=9.19;ReadPosRankSum=-0.214;SB=-811.82;TI=NM_001038,NM_001159575;GI=SCNN1A,SCNN1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:79,61:140:99:1317,0,1699:0.436:99 chr12 7342636 . T A 263.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.696;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7876;MQ=47.68;MQ0=0;MQRankSum=-2.119;QD=7.13;ReadPosRankSum=-1.129;SB=-227.31;TI=NM_001131026,NM_001131025,NM_001131023,NM_001131024;GI=PEX5,PEX5,PEX5,PEX5;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,15:37:99:294,0,465:0.405:99 chr12 32655085 rs11052033 C T 673.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.156;DP=52;Dels=0.00;FS=2.453;HRun=0;HaplotypeScore=0.0000;MQ=49.84;MQ0=0;MQRankSum=1.349;QD=12.95;ReadPosRankSum=0.156;SB=-299.73;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,28:52:99:704,0,542:0.538:99 chr12 32735236 rs904582 C T 141.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.656;DP=24;Dels=0.00;FS=1.685;HRun=0;HaplotypeScore=1.7882;MQ=52.57;MQ0=0;MQRankSum=-0.894;QD=5.90;ReadPosRankSum=-0.060;SB=-132.94;TI=NM_139241;GI=FGD4;FC=Synonymous_D145D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,9:24:99:172,0,409:0.375:99 chr12 32764184 rs10844253 G A 2794.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.915;DP=215;Dels=0.00;FS=1.117;HRun=2;HaplotypeScore=9.0705;MQ=50.78;MQ0=0;MQRankSum=1.109;QD=13.00;ReadPosRankSum=0.472;SB=-1462.27;TI=NM_139241;GI=FGD4;FC=Synonymous_R435R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:93,121:215:99:2825,0,2047:0.565:99 chr12 32777362 rs11052110 G A 1391.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.726;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.2249;MQ=49.62;MQ0=0;MQRankSum=0.485;QD=10.79;ReadPosRankSum=1.983;SB=-895.22;TI=NM_139241;GI=FGD4;FC=Synonymous_A506A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,59:129:99:1422,0,1388:0.457:99 chr12 32794600 rs10844268 A C 1125.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.154;DP=103;Dels=0.00;FS=0.756;HRun=0;HaplotypeScore=4.5747;MQ=51.83;MQ0=0;MQRankSum=1.507;QD=10.93;ReadPosRankSum=-1.916;SB=-751.12;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,53:103:99:1156,0,1064:0.520:99 chr12 32794921 rs7964947 A G 969.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DP=75;Dels=0.00;FS=2.091;HRun=1;HaplotypeScore=7.3610;MQ=57.02;MQ0=0;MQRankSum=-0.623;QD=12.93;ReadPosRankSum=-0.718;SB=-290.15;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,34:75:99:1000,0,1147:0.453:99 chr12 32794959 rs7980205 T G 1153.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.790;DP=87;Dels=0.00;FS=1.764;HRun=0;HaplotypeScore=1.8100;MQ=52.42;MQ0=0;MQRankSum=0.217;QD=13.25;ReadPosRankSum=1.611;SB=-712.30;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,46:87:99:1183,0,1038:0.529:99 chr12 32795421 rs1239829 A G 1471.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.729;DP=168;Dels=0.00;FS=1.963;HRun=0;HaplotypeScore=4.4704;MQ=50.48;MQ0=0;MQRankSum=1.873;QD=8.76;ReadPosRankSum=4.168;SB=-1089.22;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:96,72:168:99:1502,0,2195:0.429:99 chr12 32796603 . AT A 1759.39 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.379;DP=119;FS=8.544;HRun=12;HaplotypeScore=147.1617;MQ=52.67;MQ0=0;MQRankSum=1.207;QD=14.78;ReadPosRankSum=0.988;SB=-657.32;TI=NM_139241;GI=FGD4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,74:119:99:1798,0,611:0.667:99 chr12 32797237 rs11052123 G T 389.62 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.028;DP=52;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=49.74;MQ0=0;MQRankSum=1.646;QD=7.49;ReadPosRankSum=1.082;SB=-283.94;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,20:52:99:420,0,749:0.385:99 chr12 32797822 rs35874340 C CA 391.57 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.514;DP=81;FS=0.933;HRun=14;HaplotypeScore=192.7183;MQ=56.50;MQ0=0;MQRankSum=0.754;QD=4.83;ReadPosRankSum=-0.549;SB=-205.44;TI=NM_139241;GI=FGD4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,28:80:99:431,0,585:0.483:99 chr12 32797905 rs11052124 A G 1121.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.331;DP=73;Dels=0.00;FS=3.450;HRun=0;HaplotypeScore=3.6812;MQ=50.80;MQ0=0;MQRankSum=-0.074;QD=15.36;ReadPosRankSum=-0.086;SB=-686.72;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,46:73:99:1151,0,559:0.630:99 chr12 32798227 . CT C 164.08 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DP=55;FS=0.000;HRun=12;HaplotypeScore=69.2682;MQ=50.36;MQ0=0;MQRankSum=-1.068;QD=2.98;ReadPosRankSum=0.476;SB=-84.07;TI=NM_139241;GI=FGD4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,11:55:99:203,0,717:0.268:99 chr12 32798458 rs1239830 A G 1588.95 PASS AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48.14;MQ0=0;QD=22.70;SB=-1335.36;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,70:70:99:1622,111,0:1.000:99 chr12 32798665 rs1133509 G A 1073.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.358;DP=102;Dels=0.00;FS=1.711;HRun=0;HaplotypeScore=5.6628;MQ=51.45;MQ0=0;MQRankSum=0.848;QD=10.53;ReadPosRankSum=-0.520;SB=-615.39;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,48:102:99:1104,0,1331:0.471:99 chr12 48236386 rs2853562 T A 335.45 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.395;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3212;MQ=45.62;MQ0=0;MQRankSum=-0.061;QD=20.97;ReadPosRankSum=-0.061;SB=-69.44;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,12:16:55.65:365,0,56:0.750:55 chr12 48236406 . A AT 87.46 LowGQ;R8;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.107;DP=17;FS=2.622;HRun=20;HaplotypeScore=124.4650;MQ=44.81;MQ0=0;MQRankSum=-0.369;QD=5.14;ReadPosRankSum=-1.739;SB=-21.24;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,8:17:24.31:126,0,24:0.533:24 chr12 48236550 rs2544043 G C 366.62 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.810;DP=15;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8499;MQ=49.17;MQ0=0;MQRankSum=1.504;QD=24.44;ReadPosRankSum=1.504;SB=-240.36;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,14:15:2.68:396,3,0:0.933:2 chr12 48236623 rs9729 G T 876.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.025;DP=94;Dels=0.00;FS=0.790;HRun=1;HaplotypeScore=1.7608;MQ=44.17;MQ0=0;MQRankSum=-1.427;QD=9.32;ReadPosRankSum=-0.751;SB=-615.82;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,43:94:99:906,0,1032:0.457:99 chr12 48237735 rs11574125;rs78783628 CA C 549.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.652;DP=31;FS=1.412;HRun=1;HaplotypeScore=12.4906;MQ=54.17;MQ0=0;MQRankSum=0.771;QD=17.72;ReadPosRankSum=0.415;SB=-230.46;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,15:31:99:588,0,622:0.484:99 chr12 48238068 rs3847987 C A 113.75 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.710;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=49.46;MQ0=0;MQRankSum=1.485;QD=8.12;ReadPosRankSum=0.065;SB=-100.24;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,6:14:99:144,0,183:0.429:99 chr12 48238221 rs739837 G T 240.91 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.868;DP=14;Dels=0.00;FS=5.880;HRun=0;HaplotypeScore=0.8667;MQ=50.90;MQ0=0;MQRankSum=-0.467;QD=17.21;ReadPosRankSum=-1.713;SB=-190.29;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,11:14:83.83:271,0,84:0.786:83 chr12 48272895 rs2228570 A G 2129.84 PASS AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4050;MQ=43.18;MQ0=0;QD=23.93;SB=-1732.32;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Missense_M1T,Missense_M1T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,89:89:99:2163,150,0:1.000:99 chr12 49579696 rs697624;rs3175263 C G 289.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.022;DP=53;Dels=0.00;FS=1.165;HRun=1;HaplotypeScore=4.5487;MQ=38.67;MQ0=3;MQRankSum=0.690;QD=5.46;ReadPosRankSum=-0.992;SB=-235.86;TI=NM_006009;GI=TUBA1A;FC=Synonymous_S151S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,18:53:99:319,0,646:0.353:99 chr12 49580180 rs1056875 T C 687.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.627;DP=62;Dels=0.00;FS=0.997;HRun=1;HaplotypeScore=2.7855;MQ=47.86;MQ0=0;MQRankSum=0.951;QD=11.09;ReadPosRankSum=-0.627;SB=-497.82;TI=NM_006009;GI=TUBA1A;FC=Synonymous_K96K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,32:62:99:718,0,643:0.516:99 chr12 49580192 rs1065671;rs16918521 A G 61.74 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-1.274;DP=53;Dels=0.00;FS=1.623;HRun=0;HaplotypeScore=2.6823;MQ=46.89;MQ0=0;MQRankSum=-2.640;QD=1.16;ReadPosRankSum=0.722;SB=-32.05;TI=NM_006009;GI=TUBA1A;FC=Synonymous_L92L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,7:53:91.73:92,0,1175:0.132:61 chr12 49580195 . T C 32.23 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-1.143;DP=53;Dels=0.00;FS=1.890;HRun=0;HaplotypeScore=2.6823;MQ=46.89;MQ0=0;MQRankSum=-2.588;QD=0.61;ReadPosRankSum=0.828;SB=-16.45;TI=NM_006009;GI=TUBA1A;FC=Synonymous_Q91Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,7:53:62.22:62,0,1171:0.132:32 chr12 53703021 rs1546808 G A 2148.14 PASS AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5707;MQ=47.48;MQ0=0;QD=24.69;SB=-1399.13;TI=NM_015665,NM_001173466;GI=AAAS,AAAS;FC=Synonymous_F285F,Synonymous_F252F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,87:87:99:2181,156,0:1.000:99 chr12 56398454 rs773115 G C 1005.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.772;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7470;MQ=48.76;MQ0=0;MQRankSum=1.697;QD=11.43;ReadPosRankSum=0.000;SB=-821.65;TI=NM_001032387,NM_001032386,NM_000456;GI=SUOX,SUOX,SUOX;FC=Synonymous_S427S,Synonymous_S427S,Synonymous_S427S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,49:88:99:1035,0,764:0.557:99 chr12 56487201 rs2229046 T C 727.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.218;DP=106;Dels=0.00;FS=0.777;HRun=0;HaplotypeScore=1.7882;MQ=46.34;MQ0=0;MQRankSum=-0.690;QD=6.86;ReadPosRankSum=-0.497;SB=-490.97;TI=NM_001982;GI=ERBB3;FC=Synonymous_I449I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,36:106:99:757,0,1509:0.340:99 chr12 56494998 rs773123 A T 504.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.328;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8874;MQ=46.29;MQ0=0;MQRankSum=-1.169;QD=10.29;ReadPosRankSum=0.010;SB=-447.03;TI=NM_001982;GI=ERBB3;FC=Missense_S1119C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,26:49:99:534,0,444:0.542:99 chr12 56496619 . C A 12.23 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.185;DP=13;Dels=0.00;FS=7.782;HRun=28;HaplotypeScore=8.3333;MQ=29.63;MQ0=0;MQRankSum=0.740;QD=0.94;ReadPosRankSum=-2.219;SB=-0.01;TI=NM_001982;GI=ERBB3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,3:13:41.95:42,0,232:0.250:12 chr12 56496752 . GA G 91.31 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.554;DP=88;FS=3.075;HRun=12;HaplotypeScore=150.1839;MQ=49.16;MQ0=0;MQRankSum=1.562;QD=1.04;ReadPosRankSum=0.212;SB=-62.57;TI=NM_001982;GI=ERBB3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,10:88:99:130,0,1411:0.137:91 chr12 88505078 rs2468255 T C 6453.12 PASS AC=2;AF=1.00;AN=2;DP=248;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9353;MQ=51.71;MQ0=0;QD=26.02;SB=-4608.72;TI=NM_025114;GI=CEP290;FC=Synonymous_S756S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,248:248:99:6453,454,0:1.000:99 chr12 102158763 rs10778148 T C 1545.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.833;DP=141;Dels=0.00;FS=1.339;HRun=1;HaplotypeScore=5.6711;MQ=50.76;MQ0=0;MQRankSum=2.085;QD=10.96;ReadPosRankSum=0.919;SB=-1104.98;TI=NM_024312;GI=GNPTAB;FC=Synonymous_T644T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,75:141:99:1576,0,1440:0.532:99 chr12 102224491 . AGCC A 1196.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.359;DP=60;FS=0.000;HRun=0;HaplotypeScore=46.6800;MQ=41.21;MQ0=0;MQRankSum=-0.405;QD=19.95;ReadPosRankSum=-2.027;SB=-597.94;TI=NM_024312;GI=GNPTAB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,28:60:99:1236,0,801:0.467:99 chr12 102224627 . G C 25.99 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=0.736;QD=8.66;ReadPosRankSum=-0.736;SB=-0.01;TI=NM_024312;GI=GNPTAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:24.41:56,0,24:0.667:24 chr12 102224636 . T C 18.24 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=0.736;QD=6.08;ReadPosRankSum=-0.736;SB=-0.01;TI=NM_024312;GI=GNPTAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:16.68:48,0,17:0.667:16 chr12 102224641 . G C 24.07 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=0.736;QD=8.02;ReadPosRankSum=-0.736;SB=-0.01;TI=NM_024312;GI=GNPTAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:24.41:54,0,24:0.667:24 chr12 103232766 rs1801153 C T 3347.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.569;DP=237;Dels=0.00;FS=5.296;HRun=2;HaplotypeScore=7.3157;MQ=54.20;MQ0=0;MQRankSum=-0.106;QD=14.13;ReadPosRankSum=2.700;SB=-1974.87;TI=NM_000277;GI=PAH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:105,132:237:99:3348,0,2535:0.557:99 chr12 103237468 rs772897 G C 2487.03 PASS AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5737;MQ=47.86;MQ0=0;QD=24.15;SB=-1953.94;TI=NM_000277;GI=PAH;FC=Synonymous_L385L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,103:103:99:2520,175,0:1.000:99 chr12 103248924 rs1126758 C T 2483.56 PASS AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4084;MQ=51.12;MQ0=0;QD=24.84;SB=-1560.98;TI=NM_000277;GI=PAH;FC=Synonymous_Q232Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,99:100:99:2517,178,0:1.000:99 chr12 109991998 rs12817689 A G 525.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.245;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9934;MQ=47.64;MQ0=0;MQRankSum=0.366;QD=10.10;ReadPosRankSum=-1.062;SB=-393.43;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,25:52:99:555,0,525:0.481:99 chr12 109992132 rs2241201 C G 152.50 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.368;DP=16;Dels=0.00;FS=2.158;HRun=0;HaplotypeScore=0.0000;MQ=50.90;MQ0=0;MQRankSum=0.998;QD=9.53;ReadPosRankSum=-2.048;SB=-128.36;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,8:16:99:182,0,209:0.500:99 chr12 109992149 rs35145546 C G 110.74 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.097;DP=14;Dels=0.00;FS=2.363;HRun=1;HaplotypeScore=1.8939;MQ=52.59;MQ0=0;MQRankSum=0.839;QD=7.91;ReadPosRankSum=-2.259;SB=-86.32;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,6:14:99:141,0,201:0.429:99 chr12 109992958 rs10623308 T TTA 831.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.458;DP=60;FS=0.000;HRun=0;HaplotypeScore=62.4118;MQ=48.84;MQ0=0;MQRankSum=4.141;QD=13.86;ReadPosRankSum=0.941;SB=-373.87;TI=NM_052845;GI=MMAB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,22:60:99:871,0,1201:0.379:99 chr12 109993254 . ATT A 213.34 LowGQ;LowGQX;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.255;DP=24;FS=4.301;HRun=24;HaplotypeScore=79.9009;MQ=45.06;MQ0=0;MQRankSum=-0.764;QD=8.89;ReadPosRankSum=0.594;SB=-46.41;TI=NM_052845;GI=MMAB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,8:24:8.98:252,0,9:0.471:8 chr12 109993298 rs34921355 C T 191.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.778;DP=28;Dels=0.00;FS=1.875;HRun=0;HaplotypeScore=11.7641;MQ=46.28;MQ0=0;MQRankSum=-1.632;QD=6.83;ReadPosRankSum=-1.431;SB=-71.21;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,10:28:99:221,0,320:0.370:99 chr12 109993603 rs11067231 C A 1376.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.099;DP=147;Dels=0.00;FS=1.336;HRun=1;HaplotypeScore=7.3445;MQ=49.87;MQ0=0;MQRankSum=-1.037;QD=9.37;ReadPosRankSum=-0.785;SB=-1115.87;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,72:147:99:1407,0,1515:0.490:99 chr12 109993976 rs877710 C G 556.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.842;DP=41;Dels=0.00;FS=1.219;HRun=1;HaplotypeScore=1.7608;MQ=51.60;MQ0=0;MQRankSum=-2.098;QD=13.57;ReadPosRankSum=-2.125;SB=-400.53;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,25:41:99:586,0,345:0.610:99 chr12 109994870 rs9593 A T 947.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.942;DP=76;Dels=0.01;FS=0.896;HRun=1;HaplotypeScore=1.9663;MQ=47.52;MQ0=0;MQRankSum=0.887;QD=12.47;ReadPosRankSum=0.560;SB=-721.88;TI=NM_052845;GI=MMAB;FC=Missense_M239K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,46:75:99:978,0,542:0.613:99 chr12 110019338 rs2287218 C T 852.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.100;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7523;MQ=42.61;MQ0=0;MQRankSum=0.042;QD=8.52;ReadPosRankSum=0.856;SB=-680.28;TI=NM_000431,NM_001114185;GI=MVK,MVK;FC=Synonymous_D170D,Synonymous_D170D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,43:100:99:882,0,1226:0.430:99 chr12 110034435 rs36021200 T TG 279.03 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=9;FS=0.000;HRun=5;HaplotypeScore=5.8124;MQ=60.00;MQ0=0;QD=31.00;SB=-106.91;TI=NM_000431,NM_001114185;GI=MVK,MVK;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,9:9:27.08:321,27,0:1.000:27 chr12 122064773 . CCCGCCA C 1223.04 LowDP AC=2;AF=1.00;AN=2;DP=19;FS=0.000;HRun=0;HaplotypeScore=3.6306;MQ=47.20;MQ0=0;QD=64.37;SB=-575.73;TI=NM_032790;GI=ORAI1;FC=2AA_Deletion;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,18:19:54:1265,54,0:0.947:54 chr12 122079189 rs3741595 C T 805.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.176;DP=65;Dels=0.00;FS=0.945;HRun=1;HaplotypeScore=1.8835;MQ=48.27;MQ0=0;MQRankSum=-1.466;QD=12.40;ReadPosRankSum=1.466;SB=-646.98;TI=NM_032790;GI=ORAI1;FC=Synonymous_I184I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,39:65:99:836,0,539:0.600:99 chr12 122079441 rs3825175 T C 2183.49 PASS AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45.79;MQ0=0;QD=22.98;SB=-1841.26;TI=NM_032790;GI=ORAI1;FC=Synonymous_T268T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,95:95:99:2216,151,0:1.000:99 chr12 122079668 rs712853 A G 1281.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.162;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6480;MQ=52.62;MQ0=0;MQRankSum=-6.318;QD=11.65;ReadPosRankSum=1.870;SB=-823.22;TI=NM_032790;GI=ORAI1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,59:110:99:1311,0,1094:0.536:99 chr12 122079682 rs35558190 A AT 1650.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-5.943;DP=125;FS=0.660;HRun=5;HaplotypeScore=319.9935;MQ=52.89;MQ0=0;MQRankSum=7.359;QD=13.21;ReadPosRankSum=-1.785;SB=-788.82;TI=NM_032790;GI=ORAI1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,57:125:99:1690,0,2093:0.456:99 chr12 122277891 rs36023382 C A 1831.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.228;DP=147;Dels=0.00;FS=0.623;HRun=1;HaplotypeScore=3.5215;MQ=44.45;MQ0=0;MQRankSum=-2.749;QD=12.46;ReadPosRankSum=1.698;SB=-1507.13;TI=NM_002150,NM_001171993;GI=HPD,HPD;FC=Missense_V340L,Missense_V301L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,89:147:99:1861,0,1154:0.605:99 chr12 122295335 rs1154510 T C 273.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.127;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6543;MQ=49.48;MQ0=0;MQRankSum=0.099;QD=8.81;ReadPosRankSum=0.296;SB=-238.26;TI=NM_002150,NM_001171993;GI=HPD,HPD;FC=Missense_T33A,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,15:31:99:303,0,305:0.484:99 chr12 122297188 rs66611928 A C 34.34 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.026;QD=8.59;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:64.33:64,0,69:0.500:34 chr12 122299949 . G T 11.01 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=11.01;SB=-0.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chr12 122301299 rs10840624 A G 145.03 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.322;QD=18.13;ReadPosRankSum=0.322;SB=-0.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 0/1:3,5:8:95.01:175,0,95:0.625:95 chr12 122306281 . G T 11.01 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=11.01;SB=-0.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chr12 122307554 rs10840626 C G 14.92 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=7.46;SB=-40.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr12 122307580 rs10840627 A G 14.92 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=7.46;SB=-40.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr12 122310599 rs2141875 C T 39.42 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.736;QD=13.14;ReadPosRankSum=0.736;SB=-0.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:31.62:69,0,32:0.667:31 chr12 122312481 rs12372400 G A 14.92 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=7.46;SB=-40.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr12 122320352 rs895959 C T 14.92 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=7.46;SB=-37.80;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr12 122323322 . G T 14.92 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=7.46;SB=-40.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr12 124197099 rs1139320 C T 377.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.186;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6535;MQ=47.76;MQ0=0;MQRankSum=0.655;QD=7.54;ReadPosRankSum=0.616;SB=-313.69;TI=NM_012463;GI=ATP6V0A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,22:50:99:407,0,584:0.440:99 chr12 124209332 rs1139789 T C 2097.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.793;DP=169;Dels=0.00;FS=1.935;HRun=0;HaplotypeScore=4.5697;MQ=47.96;MQ0=0;MQRankSum=-0.799;QD=12.41;ReadPosRankSum=1.084;SB=-1552.09;TI=NM_012463;GI=ATP6V0A2;FC=Synonymous_N142N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,94:169:99:2128,0,1689:0.556:99 chr12 124210782 rs1399961 T C 1515.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.487;DP=142;Dels=0.00;FS=1.338;HRun=0;HaplotypeScore=2.6548;MQ=50.32;MQ0=0;MQRankSum=-0.688;QD=10.67;ReadPosRankSum=1.920;SB=-1146.18;TI=NM_012463;GI=ATP6V0A2;FC=Synonymous_S157S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,72:142:99:1545,0,1472:0.507:99 chr12 124229429 rs7135542 T C 1424.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.152;DP=168;Dels=0.00;FS=2.772;HRun=0;HaplotypeScore=8.0468;MQ=47.59;MQ0=0;MQRankSum=-1.773;QD=8.48;ReadPosRankSum=-0.504;SB=-980.50;TI=NM_012463;GI=ATP6V0A2;FC=Unknown_505;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:97,70:168:99:1455,0,2031:0.419:99 chr12 124243070 . CT C 206.37 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.520;DP=107;FS=1.657;HRun=15;HaplotypeScore=312.8046;MQ=53.91;MQ0=0;MQRankSum=2.599;QD=1.93;ReadPosRankSum=-0.586;SB=-92.84;TI=NM_012463;GI=ATP6V0A2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,18:107:99:245,0,1176:0.220:99 chr12 124243707 rs10744162 T C 1320.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.364;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4697;MQ=51.45;MQ0=0;MQRankSum=2.628;QD=10.40;ReadPosRankSum=1.532;SB=-946.23;TI=NM_012463;GI=ATP6V0A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,61:127:99:1351,0,1395:0.480:99 chr12 124244272 rs10846553 C G 590.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.096;DP=41;Dels=0.00;FS=1.279;HRun=1;HaplotypeScore=3.7878;MQ=52.00;MQ0=0;MQRankSum=1.935;QD=14.40;ReadPosRankSum=0.555;SB=-412.96;TI=NM_012463;GI=ATP6V0A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,26:41:99:621,0,337:0.634:99 chr12 124246004 rs2333834 G A 1607.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.090;DP=128;Dels=0.00;FS=1.462;HRun=2;HaplotypeScore=7.1745;MQ=48.52;MQ0=0;MQRankSum=2.496;QD=12.56;ReadPosRankSum=1.147;SB=-1223.94;TI=NM_012463;GI=ATP6V0A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,75:128:99:1638,0,1112:0.586:99 chr13 20761763 rs7988691 A G 1575.13 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.662;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=56.69;MQ0=0;MQRankSum=1.520;QD=32.15;ReadPosRankSum=-0.318;SB=-833.83;TI=NM_004004;GI=GJB2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,48:49:99:1608,120,0:0.980:99 chr13 20761888 rs7623 C T 3776.01 PASS AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6488;MQ=51.92;MQ0=0;QD=26.41;SB=-2595.71;TI=NM_004004;GI=GJB2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,143:143:99:3776,268,0:1.000:99 chr13 20761973 rs9237 C A 3048.32 PASS AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=56.64;MQ0=0;QD=27.46;SB=-2055.79;TI=NM_004004;GI=GJB2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,111:111:99:3081,220,0:1.000:99 chr13 20762956 rs3751385 A G 1117.02 PASS AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=56.44;MQ0=0;QD=28.64;SB=-641.58;TI=NM_004004;GI=GJB2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,39:39:84.28:1150,84,0:1.000:84 chr13 23903791 rs4770433 A G 1701.20 PASS AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.00;MQ0=0;QD=28.35;SB=-709.47;TI=NM_014363;GI=SACS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,60:60:99:1734,126,0:1.000:99 chr13 23907677 rs2737701 C T 2894.17 PASS AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=50.31;MQ0=0;QD=24.32;SB=-2257.83;TI=NM_014363;GI=SACS;FC=Synonymous_Q3446Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,119:119:99:2927,202,0:1.000:99 chr13 23908034 rs2737700 A G 2140.14 PASS AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7605;MQ=48.87;MQ0=0;QD=24.60;SB=-1417.70;TI=NM_014363;GI=SACS;FC=Synonymous_A3327A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,87:87:99:2173,153,0:1.000:99 chr13 23985391 rs17078720 T C 2625.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.538;DP=242;Dels=0.00;FS=0.993;HRun=2;HaplotypeScore=10.7017;MQ=50.67;MQ0=0;MQRankSum=2.154;QD=10.85;ReadPosRankSum=1.803;SB=-1725.61;TI=NM_014363;GI=SACS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:125,117:242:99:2655,0,3012:0.483:99 chr13 39262057 rs1868464 G A 180.01 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=22.50;SB=-113.16;TI=NM_207361;GI=FREM2;FC=Synonymous_E192E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,8:8:15.05:213,15,0:1.000:15 chr13 39263023 rs12874397 C T 262.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.801;DP=22;Dels=0.00;FS=4.415;HRun=0;HaplotypeScore=1.7333;MQ=58.95;MQ0=0;MQRankSum=0.467;QD=11.91;ReadPosRankSum=1.469;SB=-134.17;TI=NM_207361;GI=FREM2;FC=Synonymous_A514A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,13:22:99:292,0,209:0.591:99 chr13 39263714 rs2496423 T C 331.13 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=1.470;DP=13;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.8941;MQ=53.22;MQ0=0;MQRankSum=-0.935;QD=25.47;ReadPosRankSum=-0.401;SB=-141.91;TI=NM_207361;GI=FREM2;FC=Missense_S745P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,12:13:8.40:363,8,0:0.923:8 chr13 39430314 rs9548509 C T 2394.04 PASS AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.69;MQ0=0;QD=25.47;SB=-1672.56;TI=NM_207361;GI=FREM2;FC=Missense_T2326I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,94:94:99:2427,178,0:1.000:99 chr13 39433606 rs9532292 A G 2609.05 PASS AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=43.44;MQ0=0;QD=23.30;SB=-2101.77;TI=NM_207361;GI=FREM2;FC=Synonymous_T2466T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,112:112:99:2642,181,0:1.000:99 chr13 39457850 rs1945508 G A 1070.85 PASS AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=57.28;MQ0=0;QD=25.50;SB=-740.95;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,42:42:78.26:1104,78,0:1.000:78 chr13 39458116 rs7337135 T C 1519.81 PASS AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7876;MQ=47.11;MQ0=0;QD=24.12;SB=-1045.93;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,63:63:99:1553,108,0:1.000:99 chr13 39458405 rs2184141 G A 3541.95 PASS AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48.92;MQ0=0;QD=24.26;SB=-2751.19;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,146:146:99:3542,244,0:1.000:99 chr13 39459389 rs2027770 C T 3079.12 PASS AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=56.15;MQ0=0;QD=28.78;SB=-1594.33;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,107:107:99:3112,226,0:1.000:99 chr13 39459484 rs2225623 G A 2984.00 PASS AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7865;MQ=52.60;MQ0=0;QD=28.97;SB=-1884.54;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,103:103:99:3017,223,0:1.000:99 chr13 39459694 rs6563648 C T 2704.82 PASS AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=56.10;MQ0=0;QD=30.39;SB=-1101.71;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,89:89:99:2738,199,0:1.000:99 chr13 39460415 rs2226913 G A 2876.55 PASS AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8939;MQ=51.70;MQ0=0;QD=27.66;SB=-1511.31;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,104:104:99:2910,208,0:1.000:99 chr13 39460466 rs7327529 T A 2602.84 PASS AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.5688;MQ=48.32;MQ0=0;QD=26.56;SB=-1427.44;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,98:98:99:2636,187,0:1.000:99 chr13 39460522 . T TAG 178.19 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=5;FS=0.000;HRun=0;HaplotypeScore=24.7084;MQ=60.00;MQ0=0;QD=35.64;SB=-87.28;TI=NM_207361;GI=FREM2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:5:15.05:220,15,0:1.000:15 chr13 41363595 rs7997189 T C 139.61 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=41.08;MQ0=0;QD=19.94;SB=-112.16;TI=NM_014252;GI=SLC25A15;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:12.04:172,12,0:1.000:12 chr13 41373254 rs41396747;rs55943532 G A 666.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.069;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.29;MQ0=0;MQRankSum=-1.480;QD=11.30;ReadPosRankSum=1.112;SB=-520.91;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Synonymous_T39T,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,34:59:99:697,0,513:0.576:99 chr13 41379272 rs9577152 C T 872.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.496;DP=113;Dels=0.00;FS=0.714;HRun=0;HaplotypeScore=4.7819;MQ=43.99;MQ0=0;MQRankSum=-0.372;QD=7.72;ReadPosRankSum=2.367;SB=-644.73;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Synonymous_A111A,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,45:113:99:902,0,1438:0.398:99 chr13 41382711 rs17849654 A T 2364.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.235;DP=208;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=8.2305;MQ=50.28;MQ0=0;MQRankSum=2.057;QD=11.37;ReadPosRankSum=2.830;SB=-1893.91;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Missense_I254L,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,114:208:99:2394,0,1894:0.548:99 chr13 41384413 rs7320743 G T 184.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.599;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.82;MQ0=0;MQRankSum=0.246;QD=8.76;ReadPosRankSum=-1.373;SB=-163.96;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,10:21:99:214,0,258:0.476:99 chr13 41384487 . C T 707.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.820;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8930;MQ=44.78;MQ0=0;MQRankSum=-2.041;QD=8.62;ReadPosRankSum=0.140;SB=-587.01;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,37:82:99:737,0,927:0.451:99 chr13 41385658 rs9566580;rs41515050 C A 691.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.560;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7714;MQ=45.92;MQ0=0;MQRankSum=1.096;QD=9.60;ReadPosRankSum=-1.141;SB=-453.69;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,33:72:99:721,0,777:0.458:99 chr13 41386131 rs9577154 G T 1417.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.686;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.3638;MQ=47.86;MQ0=0;MQRankSum=-1.051;QD=10.50;ReadPosRankSum=-1.377;SB=-1162.04;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,71:135:99:1448,0,1348:0.526:99 chr13 48517289 rs4941618 A G 4401.22 PASS AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5658;MQ=52.33;MQ0=0;QD=27.86;SB=-2406.88;TI=NM_003850;GI=SUCLA2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,158:158:99:4401,313,0:1.000:99 chr13 48547467 rs7320366 A T 4661.91 PASS AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.2397;MQ=48.74;MQ0=0;QD=24.67;SB=-3624.41;TI=NM_003850;GI=SUCLA2;FC=Missense_S199T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,187:189:99:4662,325,0:1.000:99 chr13 52507110 rs928169 G C 791.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.756;DP=64;Dels=0.00;FS=2.150;HRun=0;HaplotypeScore=4.5405;MQ=56.02;MQ0=0;MQRankSum=0.908;QD=12.37;ReadPosRankSum=-0.047;SB=-358.15;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,30:64:99:822,0,909:0.469:99 chr13 52507720 rs1051332 C T 1166.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.696;DP=117;Dels=0.00;FS=1.531;HRun=0;HaplotypeScore=4.5711;MQ=48.52;MQ0=0;MQRankSum=-1.778;QD=9.97;ReadPosRankSum=-0.190;SB=-575.09;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,51:117:99:1196,0,1490:0.436:99 chr13 52515354 rs1801249 A G 1056.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.051;DP=116;Dels=0.00;FS=0.708;HRun=5;HaplotypeScore=7.6979;MQ=50.67;MQ0=0;MQRankSum=2.162;QD=9.11;ReadPosRankSum=0.592;SB=-805.42;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Missense_V933A,Missense_V1140A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,55:116:99:1087,0,1259:0.474:99 chr13 52520435 rs1801248 C T 411.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.790;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7797;MQ=43.44;MQ0=0;MQRankSum=-0.782;QD=5.21;ReadPosRankSum=1.430;SB=-327.63;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Synonymous_L808L,Synonymous_L1015L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,23:79:99:442,0,1137:0.291:99 chr13 52523808 rs732774 C T 1676.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.505;DP=166;Dels=0.00;FS=1.962;HRun=1;HaplotypeScore=4.5679;MQ=50.78;MQ0=0;MQRankSum=0.310;QD=10.10;ReadPosRankSum=0.990;SB=-935.70;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Silent,Missense_R952K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,75:166:99:1707,0,1985:0.457:99 chr13 52524488 rs1061472 T C 1431.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.615;DP=146;Dels=0.00;FS=3.930;HRun=2;HaplotypeScore=5.3097;MQ=48.92;MQ0=0;MQRankSum=0.106;QD=9.80;ReadPosRankSum=0.176;SB=-1055.77;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Missense_K670R,Missense_K832R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,71:146:99:1461,0,1510:0.486:99 chr13 52544805 rs1801244 C G 424.62 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.889;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7876;MQ=44.17;MQ0=0;MQRankSum=-1.916;QD=6.15;ReadPosRankSum=1.394;SB=-305.21;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Missense_V456L,Missense_V456L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,23:69:99:455,0,986:0.333:99 chr13 52548140 rs1801243 A C 379.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.161;DP=41;Dels=0.00;FS=1.171;HRun=0;HaplotypeScore=0.9894;MQ=47.13;MQ0=0;MQRankSum=-1.839;QD=9.26;ReadPosRankSum=-0.978;SB=-324.95;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Missense_S406A,Missense_S406A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,21:41:99:410,0,451:0.512:99 chr13 52585548 rs2277448 G T 1014.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.879;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3580;MQ=49.58;MQ0=0;MQRankSum=1.125;QD=12.22;ReadPosRankSum=1.699;SB=-609.87;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,42:83:99:1044,0,1009:0.506:99 chr13 52585591 . T TCGGCG 1589.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.573;DP=60;FS=0.982;HRun=0;HaplotypeScore=98.5046;MQ=49.40;MQ0=0;MQRankSum=0.305;QD=26.50;ReadPosRankSum=-0.023;SB=-742.21;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,25:60:99:1629,0,2217:0.424:99 chr13 78469872 . A G 8739.06 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.693;DP=344;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.1517;MQ=53.92;MQ0=0;MQRankSum=-2.024;QD=25.40;ReadPosRankSum=-0.239;SB=-5239.25;TI=NM_003991,NM_001122659,NM_000115;GI=EDNRB,EDNRB,EDNRB;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,338:344:99:8739,540,0:0.985:99 chr13 78470350 rs4885491 A G 9154.01 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.095;DP=309;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=11.5511;MQ=55.60;MQ0=0;MQRankSum=1.665;QD=29.62;ReadPosRankSum=-0.858;SB=-5389.64;TI=NM_003991,NM_001122659,NM_000115;GI=EDNRB,EDNRB,EDNRB;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,308:309:99:9154,641,0:0.997:99 chr13 78475313 rs5351 T C 9701.97 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.712;DP=341;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.3886;MQ=52.70;MQ0=0;MQRankSum=0.320;QD=28.45;ReadPosRankSum=-0.838;SB=-6206.86;TI=NM_003991,NM_001122659,NM_000115;GI=EDNRB,EDNRB,EDNRB;FC=Synonymous_L277L,Synonymous_L277L,Synonymous_L277L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,340:341:99:9702,698,0:0.997:99 chr13 78477665 rs5349 G A 2156.52 PASS AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=48.12;MQ0=0;QD=24.23;SB=-1624.55;TI=NM_003991,NM_001122659,NM_000115;GI=EDNRB,EDNRB,EDNRB;FC=Synonymous_I187I,Synonymous_I187I,Synonymous_I187I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,89:89:99:2190,154,0:1.000:99 chr13 78477674 rs5348 A G 1954.10 PASS AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=47.95;MQ0=0;QD=24.12;SB=-1490.42;TI=NM_003991,NM_001122659,NM_000115;GI=EDNRB,EDNRB,EDNRB;FC=Synonymous_S184S,Synonymous_S184S,Synonymous_S184S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,81:81:99:1987,138,0:1.000:99 chr13 103498198 rs751402 A G 2421.99 PASS AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2422;MQ=47.31;MQ0=0;QD=23.29;SB=-1907.55;TI=NM_000123;GI=ERCC5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,104:104:99:2455,172,0:1.000:99 chr13 103498375 rs2296147 T C 345.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.381;DP=24;Dels=0.00;FS=1.641;HRun=2;HaplotypeScore=0.8321;MQ=52.36;MQ0=0;MQRankSum=0.064;QD=14.40;ReadPosRankSum=-1.461;SB=-270.65;TI=NM_000123;GI=ERCC5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,17:24:99:376,0,166:0.708:99 chr13 103504517 rs1047768 T C 4823.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.338;DP=393;Dels=0.00;FS=0.366;HRun=0;HaplotypeScore=13.3664;MQ=52.40;MQ0=0;MQRankSum=1.993;QD=12.27;ReadPosRankSum=1.909;SB=-3393.32;TI=NM_000123;GI=ERCC5;FC=Synonymous_H46H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:182,211:393:99:4824,0,4365:0.537:99 chr13 103527849 rs9514066 G C 7966.90 PASS AC=2;AF=1.00;AN=2;DP=294;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.4346;MQ=53.71;MQ0=0;QD=27.10;SB=-5441.33;TI=NM_000123;GI=ERCC5;FC=Missense_G1053R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,294:294:99:7967,569,0:1.000:99 chr13 103527930 rs9514067 G C 5453.11 PASS AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2312;MQ=56.79;MQ0=0;QD=30.81;SB=-3257.61;TI=NM_000123;GI=ERCC5;FC=Missense_G1080R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,177:177:99:5453,397,0:1.000:99 chr13 103528002 rs17655 G C 2570.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.832;DP=248;Dels=0.00;FS=1.534;HRun=0;HaplotypeScore=10.0455;MQ=52.45;MQ0=0;MQRankSum=0.843;QD=10.36;ReadPosRankSum=0.986;SB=-1826.29;TI=NM_000123;GI=ERCC5;FC=Missense_D1104H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:130,118:248:99:2600,0,2904:0.476:99 chr13 103528337 rs873601 G A 2553.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.394;DP=249;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=27.3912;MQ=53.70;MQ0=0;MQRankSum=0.198;QD=10.25;ReadPosRankSum=-0.279;SB=-1311.75;TI=NM_000123;GI=ERCC5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:139,110:249:99:2583,0,3370:0.442:99 chr14 24718388 . G A 24.87 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DP=4;Dels=0.00;FS=4.771;HRun=1;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=-1.026;QD=6.22;ReadPosRankSum=-1.026;SB=-1.25;TI=NM_000359;GI=TGM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:45.10:55,0,45:0.500:24 chr14 24718389 . C G 24.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DP=4;Dels=0.00;FS=4.771;HRun=1;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=1.026;QD=6.21;ReadPosRankSum=-1.026;SB=-1.25;TI=NM_000359;GI=TGM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:54.83:55,0,55:0.500:24 chr14 24718390 . C A 24.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DP=4;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=-1.026;QD=6.21;ReadPosRankSum=-1.026;SB=-1.25;TI=NM_000359;GI=TGM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:53.90:55,0,54:0.500:24 chr14 24718401 rs2748536 C T 111.63 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=32.44;MQ0=0;QD=22.33;SB=-35.26;TI=NM_000359;GI=TGM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:5:12.03:144,12,0:1.000:12 chr14 24718515 rs2229463 G A 1229.63 PASS AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=43.87;MQ0=0;QD=23.20;SB=-1021.38;TI=NM_000359;GI=TGM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,53:53:87.29:1263,87,0:1.000:87 chr14 24728294 rs1126432 G T 248.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.619;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=45.04;MQ0=0;MQRankSum=-2.303;QD=5.66;ReadPosRankSum=-2.352;SB=-216.84;TI=NM_000359;GI=TGM1;FC=Synonymous_G382G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,15:44:99:279,0,630:0.341:99 chr14 50087753 rs7519 T C 144.55 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.556;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.24;MQ0=0;MQRankSum=-1.448;QD=9.64;ReadPosRankSum=-0.209;SB=-122.58;TI=NM_002408;GI=MGAT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,8:15:99:175,0,148:0.533:99 chr14 77741394 rs11547793 T C 2312.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.929;DP=178;Dels=0.00;FS=1.212;HRun=0;HaplotypeScore=10.9353;MQ=54.58;MQ0=0;MQRankSum=0.313;QD=12.99;ReadPosRankSum=0.615;SB=-1466.66;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,106:178:99:2343,0,1519:0.596:99 chr14 77741977 rs12894594 C T 94.53 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-2.271;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1607;MQ=54.64;MQ0=0;MQRankSum=1.197;QD=4.98;ReadPosRankSum=1.610;SB=-72.79;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,8:19:99:125,0,268:0.421:94 chr14 77742218 rs4141640 C T 484.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.458;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6203;MQ=55.48;MQ0=0;MQRankSum=1.588;QD=10.31;ReadPosRankSum=-0.181;SB=-338.33;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,22:47:99:514,0,529:0.468:99 chr14 77743644 rs1055592 G A 188.23 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.295;DP=16;Dels=0.00;FS=2.158;HRun=0;HaplotypeScore=0.8941;MQ=52.57;MQ0=0;MQRankSum=0.884;QD=11.76;ReadPosRankSum=-0.530;SB=-135.02;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,9:16:99:218,0,173:0.600:99 chr14 77745193 rs3209079 A C 949.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.258;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=48.73;MQ0=0;MQRankSum=0.790;QD=10.43;ReadPosRankSum=-0.107;SB=-695.09;TI=NM_013382;GI=POMT2;FC=Synonymous_L637L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,45:91:99:979,0,914:0.495:99 chr14 77751925 rs2270419 C T 2110.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.134;DP=201;Dels=0.00;FS=1.102;HRun=3;HaplotypeScore=8.2038;MQ=52.55;MQ0=0;MQRankSum=1.460;QD=10.50;ReadPosRankSum=1.267;SB=-1394.93;TI=NM_013382;GI=POMT2;FC=Synonymous_R461R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:103,96:201:99:2141,0,2172:0.482:99 chr14 77893276 rs4223 G A 1698.39 PASS AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=45.19;MQ0=0;QD=24.98;SB=-1202.46;TI=NM_001193317,NM_001193314,NM_022067,NM_001193316,NM_001193315;GI=VIPAR,VIPAR,VIPAR,VIPAR,VIPAR;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,68:68:99:1731,120,0:1.000:99 chr14 77893431 rs8009177 A G 263.96 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.55;MQ0=0;QD=26.40;SB=-160.60;TI=NM_001193317,NM_001193314,NM_022067,NM_001193316,NM_001193315;GI=VIPAR,VIPAR,VIPAR,VIPAR,VIPAR;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,10:10:21.07:297,21,0:1.000:21 chr14 88399623 rs405567 T C 1200.12 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.163;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=53.62;MQ0=0;MQRankSum=-2.005;QD=24.00;ReadPosRankSum=-0.025;SB=-783.38;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,48:50:48.54:1233,49,0:0.960:48 chr14 88400087 rs370559 C T 2378.33 PASS AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50.60;MQ0=0;QD=27.03;SB=-1537.02;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,88:88:99:2411,172,0:1.000:99 chr14 88400353 rs412915 C T 3510.58 PASS AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7547;MQ=53.32;MQ0=0;QD=25.08;SB=-2316.37;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,140:140:99:3511,244,0:1.000:99 chr14 88400449 rs413750 T C 3736.65 PASS AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6816;MQ=52.67;MQ0=1;QD=27.08;SB=-2499.54;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,136:138:99:3737,268,0:1.000:99 chr14 88400450 rs432946 G A 3762.17 PASS AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5757;MQ=52.61;MQ0=1;QD=27.46;SB=-2539.29;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,136:137:99:3762,268,0:1.000:99 chr14 88401213 rs421262 T C 2143.25 PASS AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=50.67;MQ0=0;QD=25.21;SB=-1336.44;TI=NM_000153;GI=GALC;FC=Missense_T641A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,85:85:99:2176,154,0:1.000:99 chr14 88407875 rs421466 T A 2617.73 PASS AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8083;MQ=51.81;MQ0=0;QD=27.27;SB=-1306.31;TI=NM_000153;GI=GALC;FC=Synonymous_V566V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,96:96:99:2651,193,0:1.000:99 chr14 88407888 rs398607 A G 1796.17 PASS AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=55.09;MQ0=0;QD=28.97;SB=-782.36;TI=NM_000153;GI=GALC;FC=Missense_I562T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,62:62:99:1829,132,0:1.000:99 chr14 88411947 rs367327 T C 3127.27 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.703;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3945;MQ=49.66;MQ0=0;MQRankSum=1.674;QD=26.28;ReadPosRankSum=-1.557;SB=-1954.93;TI=NM_000153;GI=GALC;FC=Synonymous_T540T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,118:119:99:3160,223,0:0.992:99 chr14 88414211 rs398076 G A 1413.73 PASS AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.01;MQ0=0;QD=26.18;SB=-939.02;TI=NM_000153;GI=GALC;FC=Synonymous_S450S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,54:54:99:1447,102,0:1.000:99 chr14 92336054 rs17804735 T C 3081.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.583;DP=262;Dels=0.00;FS=0.489;HRun=1;HaplotypeScore=24.3308;MQ=55.33;MQ0=0;MQRankSum=1.254;QD=11.76;ReadPosRankSum=1.084;SB=-1296.00;TI=NM_006329;GI=FBLN5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:132,126:262:99:3112,0,3288:0.488:99 chr14 92347680 rs2430347 A G 2335.92 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.663;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8808;MQ=48.94;MQ0=0;MQRankSum=-1.316;QD=23.36;ReadPosRankSum=-1.420;SB=-1798.57;TI=NM_006329;GI=FBLN5;FC=Synonymous_I315I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,99:100:99:2369,163,0:0.990:99 chr14 92413987 rs7149187 G A 315.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.630;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=44.83;MQ0=0;MQRankSum=-2.324;QD=9.29;ReadPosRankSum=1.110;SB=-150.17;TI=NM_006329;GI=FBLN5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,15:34:99:346,0,477:0.441:99 chr15 34522985 rs4238571 C G 1454.94 PASS AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52.03;MQ0=0;QD=29.10;SB=-601.09;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,50:50:99:1488,108,0:1.000:99 chr15 34523320 . A G 17.24 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.480;DP=10;Dels=0.00;FS=3.010;HRun=0;HaplotypeScore=1.9993;MQ=55.69;MQ0=0;MQRankSum=-0.480;QD=1.72;ReadPosRankSum=-0.898;SB=-0.01;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,2:10:47.15:47,0,220:0.200:17 chr15 34523565 . G GA 212.71 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.593;DP=26;FS=0.000;HRun=14;HaplotypeScore=69.8884;MQ=44.93;MQ0=0;MQRankSum=-0.216;QD=8.18;ReadPosRankSum=1.671;SB=-101.15;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,12:26:99:252,0,109:0.600:99 chr15 34524590 rs6495640 A G 714.01 PASS AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=48.02;MQ0=0;QD=25.50;SB=-391.61;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,28:28:54.18:747,54,0:1.000:54 chr15 34525164 . C G 11.93 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.323;DP=17;Dels=0.00;FS=16.580;HRun=5;HaplotypeScore=3.5764;MQ=35.87;MQ0=0;MQRankSum=-0.945;QD=0.70;ReadPosRankSum=-0.945;SB=-0.01;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,3:17:41.63:42,0,419:0.176:11 chr15 34525170 . T G 83.89 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.566;DP=28;Dels=0.00;FS=51.290;HRun=5;HaplotypeScore=17.8236;MQ=36.91;MQ0=0;MQRankSum=-2.257;QD=3.00;ReadPosRankSum=-0.929;SB=-2.88;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,8:28:99:114,0,611:0.296:83 chr15 34525588 rs16958873 T C 763.03 PASS AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.17;MQ0=0;QD=27.25;SB=-514.36;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,28:28:57.19:796,57,0:1.000:57 chr15 34551082 rs7164902 G A 4678.58 PASS AC=2;AF=1.00;AN=2;DP=188;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=51.98;MQ0=0;QD=24.89;SB=-3353.07;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Synonymous_L108L,Synonymous_L159L,Synonymous_L144L,Synonymous_L100L,Synonymous_L150L,Synonymous_L100L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,188:188:99:4679,325,0:1.000:99 chr15 34610964 rs347867 G C 3226.07 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.734;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=48.47;MQ0=0;MQRankSum=0.274;QD=23.21;ReadPosRankSum=1.229;SB=-2354.57;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,137:139:99:3259,187,0:0.986:99 chr15 34629870 rs79294885 C A 550.49 PASS AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.05;MQ0=0;QD=26.21;SB=-267.36;TI=NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,21:21:42.14:583,42,0:1.000:42 chr15 40710723 rs2075624 G A 498.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.670;DP=50;Dels=0.00;FS=1.093;HRun=1;HaplotypeScore=1.8888;MQ=47.55;MQ0=0;MQRankSum=0.689;QD=9.96;ReadPosRankSum=2.301;SB=-397.83;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,26:50:99:528,0,523:0.520:99 chr15 40711270 rs2075625 C G 757.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.908;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.1764;MQ=52.00;MQ0=0;MQRankSum=1.411;QD=11.83;ReadPosRankSum=2.700;SB=-467.99;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,33:64:99:787,0,682:0.516:99 chr15 40711838 . G A 14.92 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=7.46;SB=-37.80;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr15 40711872 . G A 11.01 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=11.01;SB=-0.01;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chr15 40712039 rs11630850 C G 11.01 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=11.01;SB=-0.01;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chr15 40712348 rs79545873 AG A 465.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.111;DP=70;FS=0.000;HRun=7;HaplotypeScore=49.2213;MQ=44.35;MQ0=0;MQRankSum=0.062;QD=6.66;ReadPosRankSum=-0.332;SB=-221.75;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,18:70:99:505,0,719:0.257:99 chr15 40712737 rs11790 T C 873.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.107;DP=58;Dels=0.00;FS=1.050;HRun=2;HaplotypeScore=5.0964;MQ=52.55;MQ0=0;MQRankSum=1.533;QD=15.05;ReadPosRankSum=0.549;SB=-481.23;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,35:58:99:903,0,541:0.614:99 chr15 40713306 rs7207 T C 917.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.800;DP=90;Dels=0.00;FS=0.802;HRun=0;HaplotypeScore=4.4704;MQ=47.41;MQ0=0;MQRankSum=1.729;QD=10.19;ReadPosRankSum=-0.073;SB=-580.94;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,43:90:99:947,0,1066:0.478:99 chr15 40713490 rs35684830 CA C 3108.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.875;DP=209;FS=0.000;HRun=8;HaplotypeScore=90.8532;MQ=49.51;MQ0=0;MQRankSum=-1.132;QD=14.87;ReadPosRankSum=-1.909;SB=-1547.34;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,112:209:99:3147,0,2473:0.541:99 chr15 43236612 rs7178567 C T 2606.66 PASS AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=57.29;MQ0=0;QD=24.36;SB=-1702.67;TI=NM_174916;GI=UBR1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,107:107:99:2640,187,0:1.000:99 chr15 43237203 rs3803341 T C 3589.15 PASS AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=55.32;MQ0=0;QD=28.26;SB=-2334.61;TI=NM_174916;GI=UBR1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,127:127:99:3589,262,0:1.000:99 chr15 43256191 rs3917223 T C 1008.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.357;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=50.36;MQ0=0;MQRankSum=-1.133;QD=10.84;ReadPosRankSum=0.042;SB=-694.30;TI=NM_174916;GI=UBR1;FC=Missense_T1548A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,47:93:99:1038,0,1005:0.505:99 chr15 45899509 rs11638237 T A 1068.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.379;DP=85;Dels=0.00;FS=2.948;HRun=0;HaplotypeScore=4.7535;MQ=49.62;MQ0=0;MQRankSum=1.094;QD=12.57;ReadPosRankSum=1.049;SB=-725.23;TI=NM_012388;GI=PLDN;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,50:85:99:1098,0,708:0.588:99 chr15 48580713 rs1552311 T C 8613.85 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.414;DP=348;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.3429;MQ=53.19;MQ0=0;MQRankSum=2.400;QD=24.75;ReadPosRankSum=2.273;SB=-6342.37;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Unknown_958,Unknown_958;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,345:348:99:8614,599,0:0.994:99 chr15 48595192 rs8025278 G T 2376.63 PASS AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=51.37;MQ0=0;QD=26.70;SB=-1692.49;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,89:89:99:2410,172,0:1.000:99 chr15 48595366 rs12902028 A G 1580.44 PASS AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.28;MQ0=0;QD=28.22;SB=-788.78;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:56:99:1613,117,0:1.000:99 chr15 48596166 rs12438818 A T 2926.70 PASS AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=3.6522;MQ=54.93;MQ0=0;QD=26.85;SB=-1874.69;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,109:109:99:2960,217,0:1.000:99 chr15 52601220 rs1045699 G A 740.96 PASS AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7748;MQ=44.48;MQ0=0;QD=21.79;SB=-619.88;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,34:34:54.17:774,54,0:1.000:54 chr15 52601570 rs3751620 G T 799.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.458;DP=75;Dels=0.00;FS=0.868;HRun=0;HaplotypeScore=1.7882;MQ=51.75;MQ0=0;MQRankSum=1.384;QD=10.66;ReadPosRankSum=1.204;SB=-605.69;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,39:75:99:830,0,747:0.520:99 chr15 52601591 rs3751619 C A 653.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DP=59;Dels=0.00;FS=1.008;HRun=1;HaplotypeScore=8.6586;MQ=54.73;MQ0=0;MQRankSum=2.858;QD=11.08;ReadPosRankSum=2.748;SB=-544.42;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,33:59:99:684,0,495:0.569:99 chr15 52601750 rs2414136 A G 974.75 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.904;DP=46;Dels=0.00;FS=3.108;HRun=1;HaplotypeScore=1.8663;MQ=45.66;MQ0=0;MQRankSum=-0.753;QD=21.19;ReadPosRankSum=-1.281;SB=-795.33;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,45:46:35.94:1008,36,0:0.978:35 chr15 52602751 . GAAC G 372.89 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.096;DP=18;FS=5.021;HRun=0;HaplotypeScore=9.8397;MQ=46.08;MQ0=0;MQRankSum=-2.289;QD=20.72;ReadPosRankSum=-1.096;SB=-148.94;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,8:18:99:412,0,359:0.444:99 chr15 52603363 rs7176482 G A 1181.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.324;DP=124;Dels=0.00;FS=2.312;HRun=0;HaplotypeScore=4.5429;MQ=45.31;MQ0=0;MQRankSum=0.941;QD=9.52;ReadPosRankSum=1.293;SB=-794.55;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,56:124:99:1211,0,1400:0.452:99 chr15 52604136 rs11282676 A ATTTGTCATT 5326.59 PASS AC=2;AF=1.00;AN=2;DP=49;FS=0.000;HRun=0;HaplotypeScore=28.0000;MQ=28.59;MQ0=3;QD=108.71;SB=-1314.21;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:7,39:46:99:5327,138,0:0.848:99 chr15 52643564 rs1058219 G A 1344.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.430;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8935;MQ=45.52;MQ0=0;MQRankSum=-0.400;QD=12.11;ReadPosRankSum=-0.892;SB=-962.22;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Missense_R1246C,Missense_R1246C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,61:111:99:1374,0,1018:0.550:99 chr15 52667552 rs2414145 G A 3375.23 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.707;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6935;MQ=48.77;MQ0=0;MQRankSum=1.155;QD=24.46;ReadPosRankSum=1.481;SB=-2638.09;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Synonymous_I842I,Synonymous_I842I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,137:138:99:3375,235,0:0.993:99 chr15 52689526 rs2924130 T C 3580.01 PASS AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.1698;MQ=49.44;MQ0=0;QD=24.19;SB=-2892.21;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Synonymous_T397T,Synonymous_T397T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,148:148:99:3580,247,0:1.000:99 chr15 52689631 rs1724577 T G 1235.68 PASS AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48.53;MQ0=0;QD=25.22;SB=-847.03;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Missense_E362D,Missense_E362D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,49:49:90.29:1269,90,0:1.000:90 chr15 55496313 rs12907749 T G 2007.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.766;DP=167;Dels=0.00;FS=0.579;HRun=2;HaplotypeScore=8.4029;MQ=51.72;MQ0=0;MQRankSum=-3.131;QD=12.02;ReadPosRankSum=-0.647;SB=-1477.26;TI=NM_183234,NM_004580,NM_183236,NM_183235;GI=RAB27A,RAB27A,RAB27A,RAB27A;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,94:167:99:2038,0,1605:0.563:99 chr15 68499661 rs8142 G A 257.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.615;DP=25;Dels=0.00;FS=1.744;HRun=0;HaplotypeScore=0.8667;MQ=52.60;MQ0=0;MQRankSum=-2.710;QD=10.31;ReadPosRankSum=-1.013;SB=-200.57;TI=NM_017882;GI=CLN6;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,14:25:99:288,0,244:0.560:99 chr15 72635829 rs11629508 A C 3061.93 PASS AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5759;MQ=46.12;MQ0=0;QD=23.37;SB=-2433.25;TI=NM_000520;GI=HEXA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,131:131:99:3095,214,0:1.000:99 chr15 72635903 rs3087652 C T 1181.63 PASS AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=48.58;MQ0=0;QD=24.11;SB=-881.67;TI=NM_000520;GI=HEXA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,49:49:84.28:1215,84,0:1.000:84 chr15 72637795 rs4777502 T C 4631.13 PASS AC=2;AF=1.00;AN=2;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=49.21;MQ0=0;QD=23.39;SB=-3635.20;TI=NM_000520;GI=HEXA;FC=Synonymous_E506E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,198:198:99:4631,319,0:1.000:99 chr15 72638892 rs1800431 T C 2470.69 PASS AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7212;MQ=46.43;MQ0=0;QD=23.76;SB=-1776.30;TI=NM_000520;GI=HEXA;FC=Missense_I436V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,104:104:99:2504,175,0:1.000:99 chr15 74472199 rs10910 C T 597.49 PASS AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=50.08;MQ0=0;QD=23.90;SB=-470.91;TI=NM_022369,NM_001199042,NM_001142618,NM_001199041,NM_001142617,NM_001142619,NM_001199040;GI=STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,25:25:45.15:630,45,0:1.000:45 chr15 74487036 rs351224 T A 1343.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.211;DP=108;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8888;MQ=47.66;MQ0=0;MQRankSum=-0.192;QD=12.44;ReadPosRankSum=1.617;SB=-989.44;TI=NM_022369,NM_001199042,NM_001142618,NM_001199041,NM_001142617,NM_001142619,NM_001199040,NM_001142620;GI=STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,61:108:99:1374,0,954:0.565:99 chr15 74495138 . C T 171.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.206;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=47.69;MQ0=0;MQRankSum=-1.032;QD=5.91;ReadPosRankSum=-0.941;SB=-148.96;TI=NM_022369,NM_001199042,NM_001142618,NM_001199041,NM_001142617,NM_001142619,NM_001199040,NM_001142620;GI=STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,10:29:99:201,0,427:0.345:99 chr15 74495555 . TTG T 2493.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.981;DP=109;FS=1.529;HRun=0;HaplotypeScore=54.1868;MQ=49.11;MQ0=0;MQRankSum=0.871;QD=22.88;ReadPosRankSum=0.865;SB=-1154.83;TI=NM_001142618,NM_001199041,NM_001142617,NM_001142619,NM_001199040,NM_001142620;GI=STRA6,STRA6,STRA6,STRA6,STRA6,STRA6;FC=Splicing,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,57:109:99:2532,0,2339:0.523:99 chr15 74658315 rs79534403 G GA 5007.96 PASS AC=2;AF=1.00;AN=2;DP=120;FS=0.000;HRun=1;HaplotypeScore=91.6748;MQ=59.86;MQ0=0;QD=41.73;SB=-2242.39;TI=NM_001099773,NM_000781;GI=CYP11A1,CYP11A1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,118:120:99:5008,358,0:0.992:99 chr15 75189930 rs1130741 A G 567.87 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.116;DP=59;Dels=0.00;FS=2.177;HRun=0;HaplotypeScore=4.4430;MQ=46.10;MQ0=0;MQRankSum=-0.493;QD=9.62;ReadPosRankSum=2.087;SB=-404.28;TI=NM_002435;GI=MPI;FC=Synonymous_V377V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,28:59:99:598,0,644:0.475:99 chr15 76508684 rs1803550 T A 11118.02 PASS AC=2;AF=1.00;AN=2;DP=407;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=12.0199;MQ=54.59;MQ0=0;QD=27.32;SB=-7895.43;TI=NM_001127716,NM_000126;GI=ETFA,ETFA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,407:407:99:11118,789,0:1.000:99 chr15 89876827 rs41550117 T TTGC 1099.54 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.169;DP=58;FS=1.342;HRun=0;HaplotypeScore=39.2140;MQ=56.02;MQ0=0;MQRankSum=0.492;QD=18.96;ReadPosRankSum=-0.862;SB=-550.39;TI=NM_001126131,NM_002693;GI=POLG,POLG;FC=1AA_Insertion,1AA_Insertion;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,25:58:99:1139,0,505:0.455:99 chr16 1495006 rs8767 C G 981.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.097;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6546;MQ=51.03;MQ0=0;MQRankSum=0.885;QD=8.76;ReadPosRankSum=2.084;SB=-656.55;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,48:112:99:1011,0,1425:0.429:99 chr16 1495243 rs710900 T G 1468.32 PASS AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0979;MQ=45.60;MQ0=0;QD=24.07;SB=-1104.51;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,61:61:99:1501,105,0:1.000:99 chr16 1495745 rs55801438 G A 231.59 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.70;MQ0=0;QD=21.05;SB=-175.68;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,11:11:18.06:264,18,0:1.000:18 chr16 1495746 rs1050834 G A 267.99 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.28;MQ0=0;QD=22.33;SB=-215.33;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,12:12:21.07:301,21,0:1.000:21 chr16 1495897 rs2294542 G A 193.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.462;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8938;MQ=43.89;MQ0=0;MQRankSum=0.209;QD=6.91;ReadPosRankSum=-1.277;SB=-186.38;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,12:28:99:223,0,347:0.429:99 chr16 1503879 rs2235579 T A 1669.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.721;DP=158;Dels=0.00;FS=3.734;HRun=0;HaplotypeScore=5.3396;MQ=47.88;MQ0=0;MQRankSum=-0.613;QD=10.57;ReadPosRankSum=-0.518;SB=-1164.55;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Synonymous_A390A,Synonymous_A366A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,79:158:99:1700,0,1602:0.503:99 chr16 1509123 rs12923538 G A 1519.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.027;DP=125;Dels=0.00;FS=0.675;HRun=0;HaplotypeScore=4.7863;MQ=47.68;MQ0=0;MQRankSum=-1.520;QD=12.15;ReadPosRankSum=-0.289;SB=-1191.91;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Synonymous_H220H,Synonymous_H196H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,74:125:99:1549,0,1053:0.592:99 chr16 2331430 rs149532 A G 2098.03 PASS AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4148;MQ=45.93;MQ0=0;QD=23.57;SB=-1658.91;TI=NM_001089;GI=ABCA3;FC=Synonymous_S1372S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,89:89:99:2131,147,0:1.000:99 chr16 2390596 rs45456893 G T 14.91 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=7.45;SB=-27.67;TI=NM_001089;GI=ABCA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr16 3292085 rs450021 C A 4130.49 PASS AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1597;MQ=49.11;MQ0=0;QD=24.59;SB=-3072.16;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,166:168:99:4130,289,0:1.000:99 chr16 3292339 . T C 35.63 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=17.81;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr16 3292351 . A G 35.63 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=17.81;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr16 3292355 . T C 33.74 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=16.87;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:65,6,0:1.000:6 chr16 3292356 . T C 35.63 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=17.81;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr16 3292398 rs80355217 A G 37.70 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=47.12;MQ0=0;QD=18.85;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:69,6,0:1.000:6 chr16 3292666 rs11466052;rs67530870 T C 1501.09 PASS AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=131.8931;MQ=43.58;MQ0=0;QD=24.21;SB=-992.28;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,62:62:99:1534,117,0:1.000:99 chr16 3292667 rs11466051 G C 1608.13 PASS AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=131.8931;MQ=43.58;MQ0=0;QD=25.94;SB=-1106.97;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,62:62:99:1641,126,0:1.000:99 chr16 3292672 . CAAAA C,CA 2257.21 R8 AC=1,1;AF=0.50,0.50;AN=2;DP=62;FS=0.000;HaplotypeScore=463.3808;MQ=43.58;MQ0=0;QD=36.41;SB=-1060.61;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:4,22,0:62:99:2335,701,550,552,0,375:0.846:99 chr16 3292874 rs2741918 C T 483.10 LowDP AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.99;MQ0=0;QD=25.43;SB=-230.30;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,19:19:39.12:516,39,0:1.000:39 chr16 3292896 rs2741919 C T 656.20 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.74;MQ0=0;QD=25.24;SB=-449.39;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,26:26:51.15:689,51,0:1.000:51 chr16 3297073 rs224206 A G 2620.94 PASS AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1489;MQ=45.38;MQ0=0;QD=24.27;SB=-2062.85;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_D510D,Synonymous_D299D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,108:108:99:2654,184,0:1.000:99 chr16 3297175 rs224207 T C 2761.64 PASS AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=46.26;MQ0=0;QD=24.01;SB=-2256.72;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_Q476Q,Synonymous_Q265Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,115:115:99:2795,193,0:1.000:99 chr16 3297181 rs224208 C T 2945.22 PASS AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4648;MQ=45.72;MQ0=0;QD=23.94;SB=-2415.70;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_E474E,Synonymous_E263E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,123:123:99:2978,205,0:1.000:99 chr16 3299749 rs224213 G A 1763.57 PASS AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=46.61;MQ0=0;QD=23.51;SB=-1400.55;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_R314R,Synonymous_R103R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,75:75:99:1797,123,0:1.000:99 chr16 3304463 rs224222 C T 459.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.007;DP=41;Dels=0.00;FS=2.820;HRun=0;HaplotypeScore=1.6988;MQ=48.89;MQ0=0;MQRankSum=0.327;QD=11.21;ReadPosRankSum=0.667;SB=-193.17;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Missense_R202Q,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,19:41:99:490,0,476:0.463:99 chr16 3304573 rs224223 G T 976.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.380;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4286;MQ=44.25;MQ0=0;MQRankSum=0.538;QD=13.20;ReadPosRankSum=1.693;SB=-793.93;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_A165A,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,48:74:99:1007,0,520:0.649:99 chr16 3304654 rs224224 T C 905.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.690;DP=74;Dels=0.00;FS=0.917;HRun=2;HaplotypeScore=2.7602;MQ=48.55;MQ0=0;MQRankSum=-1.698;QD=12.23;ReadPosRankSum=-2.531;SB=-666.77;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_G138G,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,43:74:99:935,0,616:0.581:99 chr16 3304762 rs224225 A G 1192.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.023;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6161;MQ=50.64;MQ0=0;MQRankSum=1.515;QD=9.47;ReadPosRankSum=-0.168;SB=-675.31;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_D102D,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,52:126:99:1223,0,1594:0.416:99 chr16 5128857 rs12921879 G C 237.69 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.634;DP=19;Dels=0.00;FS=2.077;HRun=0;HaplotypeScore=1.8255;MQ=52.71;MQ0=0;MQRankSum=-1.648;QD=12.51;ReadPosRankSum=1.141;SB=-164.18;TI=NM_019109;GI=ALG1;FC=Synonymous_L280L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,12:19:99:268,0,167:0.632:99 chr16 5132636 rs1047732 C T 924.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.055;DP=104;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.3619;MQ=41.96;MQ0=4;MQRankSum=-0.352;QD=8.89;ReadPosRankSum=0.172;SB=-752.56;TI=NM_019109;GI=ALG1;FC=Synonymous_F383F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,49:104:99:955,0,1018:0.471:99 chr16 5135380 rs6775;rs11554416 A G 412.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.397;DP=34;Dels=0.00;FS=1.585;HRun=0;HaplotypeScore=0.8941;MQ=55.60;MQ0=0;MQRankSum=-0.121;QD=12.12;ReadPosRankSum=-0.086;SB=-88.82;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,16:34:99:442,0,532:0.471:99 chr16 5135947 rs4483845 C G 770.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.323;DP=83;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.7222;MQ=43.46;MQ0=0;MQRankSum=-1.407;QD=9.28;ReadPosRankSum=2.017;SB=-573.30;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,42:83:99:800,0,860:0.506:99 chr16 5135956 rs4786593 G T 604.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.093;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5894;MQ=43.99;MQ0=0;MQRankSum=0.723;QD=8.75;ReadPosRankSum=-2.131;SB=-417.17;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,30:69:99:634,0,782:0.441:99 chr16 5135979 rs4238853 T C 880.73 PASS AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45.30;MQ0=0;QD=22.02;SB=-666.66;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,40:40:66.20:914,66,0:1.000:66 chr16 5136085 rs4786594 C A 75.00 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.246;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.81;MQ0=0;MQRankSum=1.663;QD=6.82;ReadPosRankSum=0.278;SB=-63.24;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,4:11:99:105,0,154:0.364:75 chr16 5136148 . C A 20.46 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-0.446;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.12;MQ0=0;MQRankSum=0.365;QD=0.89;ReadPosRankSum=-2.312;SB=-42.33;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,4:23:50.41:50,0,430:0.174:20 chr16 5136320 rs12922304 G A 75.48 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.96;MQ0=0;QD=25.16;SB=-32.65;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:9.03:108,9,0:1.000:9 chr16 5136900 rs4786595 C A 50.05 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.02;SB=-0.01;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:81,6,0:1.000:6 chr16 5136901 rs4786596 C G 37.07 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=18.54;SB=-0.01;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.01:68,6,0:1.000:6 chr16 5137069 rs12928220 C G 732.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.116;DP=83;Dels=0.00;FS=0.834;HRun=0;HaplotypeScore=3.5764;MQ=49.31;MQ0=0;MQRankSum=0.342;QD=8.83;ReadPosRankSum=0.159;SB=-663.59;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,40:83:99:763,0,894:0.482:99 chr16 5137285 rs4786597 A G 1780.43 PASS AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8455;MQ=47.69;MQ0=0;QD=23.74;SB=-1441.68;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,75:75:99:1813,126,0:1.000:99 chr16 8900241 rs62031146 G A 2314.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.979;DP=207;Dels=0.00;FS=4.830;HRun=4;HaplotypeScore=3.5764;MQ=50.22;MQ0=0;MQRankSum=1.345;QD=11.18;ReadPosRankSum=1.178;SB=-1501.65;TI=NM_000303;GI=PMM2;FC=Synonymous_A108A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:101,106:207:99:2344,0,2167:0.512:99 chr16 8941934 rs2075828 C A 989.83 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.687;DP=39;Dels=0.00;FS=6.601;HRun=0;HaplotypeScore=9.0241;MQ=48.98;MQ0=0;MQRankSum=-0.987;QD=25.38;ReadPosRankSum=0.287;SB=-185.43;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,37:39:77.84:1023,78,0:0.949:77 chr16 8942473 rs2437722 G C 1897.07 PASS AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=51.78;MQ0=0;QD=25.64;SB=-1412.92;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,74:74:99:1930,135,0:1.000:99 chr16 14043557 rs77401662 G A 1993.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.928;DP=171;Dels=0.00;FS=1.897;HRun=0;HaplotypeScore=1.7882;MQ=55.34;MQ0=0;MQRankSum=2.183;QD=11.66;ReadPosRankSum=0.576;SB=-1218.77;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,87:171:99:2024,0,2003:0.509:99 chr16 23360199 rs238547 T C 815.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.965;DP=49;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8939;MQ=49.62;MQ0=0;MQRankSum=0.466;QD=16.64;ReadPosRankSum=-0.336;SB=-493.29;TI=NM_000336;GI=SCNN1B;FC=Synonymous_P93P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,34:49:99:846,0,280:0.694:99 chr16 23399945 . CTT C 316.04 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.153;DP=76;FS=0.000;HRun=18;HaplotypeScore=295.1495;MQ=48.38;MQ0=0;MQRankSum=2.737;QD=4.16;ReadPosRankSum=-0.818;SB=-117.74;TI=NM_153603;GI=COG7;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,10:76:99:355,0,683:0.208:99 chr16 28853996 rs3088215 A C 1233.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.574;DP=133;Dels=0.00;FS=0.640;HRun=0;HaplotypeScore=7.5740;MQ=44.89;MQ0=0;MQRankSum=0.205;QD=9.27;ReadPosRankSum=0.970;SB=-1039.26;TI=NM_003321;GI=TUFM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,65:133:99:1263,0,1434:0.489:99 chr16 28854232 . C A 11.01 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=11.01;SB=-0.01;TI=NM_003321;GI=TUFM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chr16 28857645 rs7187776 A G 1211.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.879;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2477;MQ=50.16;MQ0=0;MQRankSum=-1.738;QD=9.61;ReadPosRankSum=-1.650;SB=-966.79;TI=NM_003321;GI=TUFM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,61:126:99:1241,0,1315:0.484:99 chr16 28944396 rs2904880 C G 674.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.879;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7748;MQ=45.24;MQ0=0;MQRankSum=-3.351;QD=12.05;ReadPosRankSum=-2.623;SB=-581.50;TI=NM_001770,NM_001178098;GI=CD19,CD19;FC=Missense_L174V,Missense_L174V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,35:56:99:705,0,466:0.625:99 chr16 53634295 rs1946155 C T 770.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.506;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6756;MQ=47.35;MQ0=0;MQRankSum=-2.582;QD=8.85;ReadPosRankSum=-1.703;SB=-574.63;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,39:87:99:800,0,1054:0.448:99 chr16 53635251 rs3760008 A C 619.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.814;DP=49;Dels=0.00;FS=1.092;HRun=1;HaplotypeScore=3.7038;MQ=56.79;MQ0=0;MQRankSum=-1.055;QD=12.65;ReadPosRankSum=0.593;SB=-355.85;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,22:49:99:650,0,710:0.449:99 chr16 53635933 rs4784319 A T 521.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.549;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.28;MQ0=0;MQRankSum=-0.390;QD=12.42;ReadPosRankSum=-0.919;SB=-345.45;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,22:42:99:552,0,433:0.524:99 chr16 53656135 rs73607968 G C 793.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.275;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8924;MQ=47.76;MQ0=0;MQRankSum=-1.034;QD=13.22;ReadPosRankSum=-0.234;SB=-518.87;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Missense_T1143S,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,36:60:99:823,0,487:0.600:99 chr16 57495026 rs223870 T C 339.50 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;QD=28.29;SB=-118.45;TI=NM_020312;GI=COQ9;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,12:12:27.09:372,27,0:1.000:27 chr16 66544113 . CAAA C 319.95 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.243;DP=34;FS=10.342;HRun=19;HaplotypeScore=172.4428;MQ=45.30;MQ0=0;MQRankSum=0.258;QD=9.41;ReadPosRankSum=0.633;SB=-190.40;TI=NM_001172643,NM_001172645,NM_001172644,NM_004614;GI=TK2,TK2,TK2,TK2;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,5:34:99:359,0,317:0.263:99 chr16 66584002 rs3743716 T C 346.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.250;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4813;MQ=56.02;MQ0=0;MQRankSum=-0.617;QD=9.91;ReadPosRankSum=-1.917;SB=-117.06;TI=NM_001172643,NM_001172645,NM_001172644,NM_004614;GI=TK2,TK2,TK2,TK2;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,15:35:99:377,0,482:0.429:99 chr16 81129822 rs8052579;rs11551818 G A 108.90 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DP=9;Dels=0.00;FS=2.808;HRun=1;HaplotypeScore=1.6988;MQ=42.25;MQ0=0;MQRankSum=2.054;QD=12.10;ReadPosRankSum=0.248;SB=-50.92;TI=NM_004483,NR_033249,NR_033247;GI=GCSH,GCSH,LOC100329108;FC=Missense_S21L,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,6:9:55.99:139,0,56:0.667:55 chr16 88493940 . G A 547.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.672;DP=64;Dels=0.00;FS=0.962;HRun=0;HaplotypeScore=0.8941;MQ=47.33;MQ0=0;MQRankSum=2.374;QD=8.56;ReadPosRankSum=0.432;SB=-380.75;TI=NM_001127464;GI=ZNF469;FC=Missense_R21H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,29:64:99:578,0,719:0.453:99 chr16 88494947 rs11648572 T C 1819.42 PASS AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=6.4866;MQ=46.83;MQ0=0;QD=25.99;SB=-1212.46;TI=NM_001127464;GI=ZNF469;FC=Missense_S357P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,70:70:99:1852,132,0:1.000:99 chr16 88494976 rs11640794 A C 2962.91 PASS AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.3371;MQ=44.65;MQ0=0;QD=23.15;SB=-2296.98;TI=NM_001127464;GI=ZNF469;FC=Missense_R366S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,127:128:99:2996,211,0:1.000:99 chr16 88495407 rs7199961 G C 743.49 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.8914;MQ=55.64;MQ0=0;QD=23.23;SB=-458.87;TI=NM_001127464;GI=ZNF469;FC=Missense_G510A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,32:32:57.17:776,57,0:1.000:57 chr16 88495654 rs12927001 A G 303.23 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.48;MQ0=0;QD=25.27;SB=-145.48;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P592P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,12:12:27.08:336,27,0:1.000:27 chr16 88496008 rs12918876 T C 1274.13 PASS AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=46.68;MQ0=0;QD=24.98;SB=-903.53;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P710P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,51:51:93.30:1307,93,0:1.000:93 chr16 88497031 rs9924504 T C 1047.30 PASS AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.73;MQ0=0;QD=23.80;SB=-824.17;TI=NM_001127464;GI=ZNF469;FC=Synonymous_I1051I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,44:44:75.25:1080,75,0:1.000:75 chr16 88497400 rs9938800 G A 468.56 PASS AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=49.31;MQ0=0;QD=23.43;SB=-321.18;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P1146P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,20:20:36.12:502,36,0:1.000:36 chr16 88497446 rs7197071 A G 347.27 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.26;MQ0=0;QD=21.70;SB=-279.12;TI=NM_001127464;GI=ZNF469;FC=Missense_K1162E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,16:16:27.09:380,27,0:1.000:27 chr16 88498221 rs4782300 C T 682.76 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.13;MQ0=0;QD=26.26;SB=-499.98;TI=NM_001127464;GI=ZNF469;FC=Missense_P1420L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,26:26:51.17:716,51,0:1.000:51 chr16 88498297 rs12445417 T G 1142.70 PASS AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=45.96;MQ0=0;QD=23.81;SB=-811.13;TI=NM_001127464;GI=ZNF469;FC=Synonymous_S1445S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,47:48:81.27:1176,81,0:1.000:81 chr16 88499539 rs9931465 C G 489.01 PASS AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.37;MQ0=0;QD=23.29;SB=-356.87;TI=NM_001127464;GI=ZNF469;FC=Synonymous_T1859T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,21:21:36.12:522,36,0:1.000:36 chr16 88501034 rs12598474 G C 190.14 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=2.031;DP=19;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9916;MQ=51.58;MQ0=0;MQRankSum=-0.265;QD=10.01;ReadPosRankSum=2.119;SB=-137.23;TI=NM_001127464;GI=ZNF469;FC=Missense_G2358R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,9:19:99:220,0,201:0.500:99 chr16 88501642 . G A 284.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.889;DP=25;Dels=0.00;FS=1.580;HRun=0;HaplotypeScore=0.0000;MQ=48.48;MQ0=0;MQRankSum=1.287;QD=11.37;ReadPosRankSum=0.137;SB=-201.43;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P2560P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,14:25:99:314,0,250:0.560:99 chr16 88501971 rs3812956 T A 42.05 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.358;QD=8.41;ReadPosRankSum=0.358;SB=-40.01;TI=NM_001127464;GI=ZNF469;FC=Missense_L2670Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,3:5:68.61:72,0,69:0.600:42 chr16 88502482 rs3812953 C T 1047.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.281;DP=95;Dels=0.00;FS=0.772;HRun=2;HaplotypeScore=3.6809;MQ=48.77;MQ0=0;MQRankSum=0.041;QD=11.03;ReadPosRankSum=0.341;SB=-889.38;TI=NM_001127464;GI=ZNF469;FC=Synonymous_R2840R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,53:95:99:1078,0,903:0.558:99 chr16 88502505 rs1983014 A G 2357.71 PASS AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=47.90;MQ0=0;QD=24.06;SB=-1780.74;TI=NM_001127464;GI=ZNF469;FC=Missense_H2848R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,98:98:99:2391,166,0:1.000:99 chr16 88504203 . G C 980.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.641;DP=78;Dels=0.00;FS=0.887;HRun=0;HaplotypeScore=10.0667;MQ=47.19;MQ0=0;MQRankSum=-0.507;QD=12.57;ReadPosRankSum=-0.910;SB=-763.84;TI=NM_001127464;GI=ZNF469;FC=Missense_R3414T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,49:78:99:1011,0,541:0.628:99 chr16 88504850 rs1105066 G C 789.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.108;DP=67;Dels=0.00;FS=2.052;HRun=0;HaplotypeScore=2.7273;MQ=44.74;MQ0=0;MQRankSum=1.608;QD=11.79;ReadPosRankSum=1.405;SB=-543.02;TI=NM_001127464;GI=ZNF469;FC=Missense_E3630Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,39:67:99:820,0,549:0.582:99 chr16 88504868 rs904783 A G 920.13 PASS AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.68;MQ0=0;QD=24.87;SB=-673.47;TI=NM_001127464;GI=ZNF469;FC=Missense_T3636A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,37:37:66.22:953,66,0:1.000:66 chr16 88505635 rs4782301 A G 300.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.036;DP=21;Dels=0.00;FS=4.018;HRun=0;HaplotypeScore=0.8941;MQ=52.44;MQ0=0;MQRankSum=-2.168;QD=14.31;ReadPosRankSum=-1.599;SB=-132.25;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P3891P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,12:21:99:331,0,177:0.571:99 chr16 88505734 rs4782362 C T 2829.40 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.295;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5971;MQ=47.28;MQ0=0;MQRankSum=1.520;QD=22.28;ReadPosRankSum=1.714;SB=-2279.33;TI=NM_001127464;GI=ZNF469;FC=Synonymous_S3924S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,125:127:99:2862,202,0:0.984:99 chr16 88505748 rs45504291 G A 1133.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.622;DP=116;Dels=0.00;FS=0.705;HRun=1;HaplotypeScore=1.8930;MQ=47.61;MQ0=0;MQRankSum=-0.058;QD=9.77;ReadPosRankSum=4.036;SB=-818.28;TI=NM_001127464;GI=ZNF469;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,60:116:99:1163,0,1116:0.517:99 chr16 88506358 rs3859020 T G 531.87 PASS AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.36;MQ0=0;QD=23.12;SB=-356.27;TI=NM_001127464;GI=ZNF469;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,23:23:39.13:565,39,0:1.000:39 chr16 88506528 rs3894713 G A 429.57 LowDP AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.16;MQ0=0;QD=26.85;SB=-282.60;TI=NM_001127464;GI=ZNF469;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,16:16:33.11:463,33,0:1.000:33 chr16 88506599 rs67897677 AT A 209.37 R8;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.429;DP=15;FS=2.158;HRun=11;HaplotypeScore=57.6075;MQ=57.03;MQ0=0;MQRankSum=0.306;QD=13.96;ReadPosRankSum=-0.429;SB=-96.36;TI=NM_001127464;GI=ZNF469;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,10:15:95.14:248,0,95:0.667:95 chr16 88506741 rs3848234 A G 203.34 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;QD=33.89;SB=-76.74;TI=NM_001127464;GI=ZNF469;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,6:6:18.06:236,18,0:1.000:18 chr17 3397702 rs12948217 C T 3345.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.673;DP=316;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=35.6070;MQ=54.07;MQ0=0;MQRankSum=0.138;QD=10.59;ReadPosRankSum=-0.266;SB=-2482.34;TI=NM_001128085,NM_000049;GI=ASPA,ASPA;FC=Synonymous_Y231Y,Synonymous_Y231Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:153,162:316:99:3345,0,3311:0.514:99 chr17 3402521 rs1552830 C A 5662.75 PASS AC=2;AF=1.00;AN=2;DP=231;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5981;MQ=48.10;MQ0=0;QD=24.51;SB=-4239.75;TI=NM_001128085,NM_000049;GI=ASPA,ASPA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,231:231:99:5663,391,0:1.000:99 chr17 3539858 . C T 1926.62 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.054;DP=183;Dels=0.00;FS=3.433;HRun=1;HaplotypeScore=16.6234;MQ=49.15;MQ0=0;MQRankSum=1.135;QD=10.53;ReadPosRankSum=0.328;SB=-1353.32;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,92:183:99:1957,0,1958:0.503:99 chr17 3561396 rs161400 C T 5169.67 PASS AC=2;AF=1.00;AN=2;DP=226;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6756;MQ=47.59;MQ0=0;QD=22.87;SB=-4332.74;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Missense_T260I,Missense_T260I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,226:226:99:5170,355,0:1.000:99 chr17 3564401 rs224562 T G 930.62 PASS AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.74;MQ0=0;QD=22.70;SB=-793.53;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,41:41:66.22:964,66,0:1.000:66 chr17 3565605 rs10548618;rs66749292 CA C 1370.99 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.890;DP=99;FS=0.000;HRun=15;HaplotypeScore=154.3637;MQ=45.97;MQ0=0;MQRankSum=-1.294;QD=13.85;ReadPosRankSum=1.123;SB=-696.02;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,65:98:99:1410,0,106:0.783:99 chr17 3565969 rs161397 T C 186.99 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.96;MQ0=0;QD=20.78;SB=-158.60;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,9:9:15.05:220,15,0:1.000:15 chr17 3566045 rs71379528 T TC 1370.69 PASS AC=2;AF=1.00;AN=2;DP=34;FS=0.000;HRun=1;HaplotypeScore=32.6082;MQ=55.71;MQ0=0;QD=40.31;SB=-528.88;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,33:34:99:1413,102,0:0.971:99 chr17 7487108 rs2075230 A G 2680.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.441;DP=230;Dels=0.00;FS=4.607;HRun=2;HaplotypeScore=8.0838;MQ=50.82;MQ0=0;MQRankSum=0.649;QD=11.65;ReadPosRankSum=0.984;SB=-1899.69;TI=NM_004870,NR_024603;GI=MPDU1,MPDU1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:109,121:230:99:2710,0,2565:0.526:99 chr17 7490810 rs10852891 G A 796.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.043;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=46.70;MQ0=0;MQRankSum=-2.043;QD=9.16;ReadPosRankSum=-0.905;SB=-670.30;TI=NM_004870,NR_024603;GI=MPDU1,MPDU1;FC=Missense_A229T,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,42:87:99:827,0,941:0.483:99 chr17 7491177 rs4227 G T 1415.44 PASS AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=47.74;MQ0=0;QD=24.40;SB=-1102.28;TI=NM_004870,NR_024603;GI=MPDU1,MPDU1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,58:58:99:1448,102,0:1.000:99 chr17 10584116 rs2040570 C T 1574.70 PASS AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53.98;MQ0=0;QD=28.12;SB=-954.55;TI=NM_004589;GI=SCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:56:99:1608,117,0:1.000:99 chr17 13972811 rs6502330 G A 1906.89 PASS AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0620;MQ=45.82;MQ0=0;QD=24.14;SB=-1457.11;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,79:79:99:1940,135,0:1.000:99 chr17 13972814 rs28680987 G A 923.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.163;DP=89;Dels=0.00;FS=4.129;HRun=0;HaplotypeScore=7.1679;MQ=45.47;MQ0=0;MQRankSum=-2.435;QD=10.38;ReadPosRankSum=-1.658;SB=-678.88;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,46:89:99:954,0,912:0.523:99 chr17 13980350 rs8077302 G A 3305.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.113;DP=275;Dels=0.00;FS=3.327;HRun=1;HaplotypeScore=6.5540;MQ=54.27;MQ0=0;MQRankSum=2.559;QD=12.02;ReadPosRankSum=-0.673;SB=-2071.46;TI=NM_001303;GI=COX10;FC=Missense_R159Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:136,139:275:99:3306,0,2987:0.505:99 chr17 14005439 rs2159132 G A 688.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.186;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50.33;MQ0=0;MQRankSum=0.390;QD=9.98;ReadPosRankSum=0.871;SB=-470.79;TI=NM_001303;GI=COX10;FC=Synonymous_L168L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,33:69:99:719,0,836:0.478:99 chr17 14095309 rs2230354 A G 110.10 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.146;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=52.12;MQ0=1;MQRankSum=-1.220;QD=6.12;ReadPosRankSum=-1.708;SB=-65.61;TI=NM_001303;GI=COX10;FC=Synonymous_P233P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,8:18:99:140,0,224:0.444:99 chr17 14110668 . GT G 89.55 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.413;DP=91;FS=0.875;HRun=14;HaplotypeScore=152.8844;MQ=52.70;MQ0=0;MQRankSum=0.883;QD=0.98;ReadPosRankSum=-3.139;SB=-67.14;TI=NM_001303;GI=COX10;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,14:91:99:129,0,1066:0.189:89 chr17 14110827 rs8076247 G A 626.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.996;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=44.03;MQ0=0;MQRankSum=-0.952;QD=13.32;ReadPosRankSum=-0.667;SB=-417.73;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,29:47:99:656,0,384:0.617:99 chr17 14111608 rs13183 C T 486.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.474;DP=53;Dels=0.00;FS=2.399;HRun=0;HaplotypeScore=5.6696;MQ=54.78;MQ0=0;MQRankSum=0.259;QD=9.17;ReadPosRankSum=-0.223;SB=-372.75;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,24:53:99:516,0,714:0.453:99 chr17 14111915 rs1050223 C T 624.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.462;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1860;MQ=47.24;MQ0=0;MQRankSum=-0.237;QD=6.44;ReadPosRankSum=3.279;SB=-522.93;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,35:97:99:654,0,1277:0.361:99 chr17 15133657 rs7538 A G 831.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.055;DP=73;Dels=0.00;FS=1.955;HRun=0;HaplotypeScore=3.6739;MQ=54.67;MQ0=0;MQRankSum=0.524;QD=11.38;ReadPosRankSum=1.286;SB=-574.02;TI=NM_153321,NM_153322,NM_000304;GI=PMP22,PMP22,PMP22;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,38:73:99:861,0,808:0.521:99 chr17 15133705 rs71699667 CAG C 519.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.215;DP=36;FS=1.483;HRun=0;HaplotypeScore=74.0986;MQ=56.59;MQ0=0;MQRankSum=1.469;QD=14.43;ReadPosRankSum=1.206;SB=-214.26;TI=NM_153321,NM_153322,NM_000304;GI=PMP22,PMP22,PMP22;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,13:36:99:559,0,707:0.406:99 chr17 15134175 rs13422 T G 1065.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.335;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=48.61;MQ0=0;MQRankSum=0.949;QD=12.25;ReadPosRankSum=3.954;SB=-732.81;TI=NM_153321,NM_153322,NM_000304;GI=PMP22,PMP22,PMP22;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,50:87:99:1096,0,824:0.575:99 chr17 19578873 rs7216 A T 2946.95 PASS AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2964;MQ=50.56;MQ0=0;QD=25.19;SB=-2010.81;TI=NM_001031806,NM_000382;GI=ALDH3A2,ALDH3A2;FC=Silent,Synonymous_A482A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,115:117:99:2980,211,0:1.000:99 chr17 19580494 rs7215 A G 549.24 PASS AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.81;MQ0=0;QD=24.97;SB=-319.07;TI=NM_001031806,NM_000382;GI=ALDH3A2,ALDH3A2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,22:22:42.13:582,42,0:1.000:42 chr17 19580760 rs16420 TAC T 1415.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.000;DP=73;FS=0.924;HRun=0;HaplotypeScore=32.3628;MQ=57.53;MQ0=0;MQRankSum=0.472;QD=19.40;ReadPosRankSum=1.355;SB=-645.18;TI=NM_001031806,NM_000382;GI=ALDH3A2,ALDH3A2;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,34:73:99:1455,0,1397:0.472:99 chr17 33901965 rs10068 C G 4051.71 PASS AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7637;MQ=56.73;MQ0=0;QD=29.79;SB=-1995.35;TI=NM_000286;GI=PEX12;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,136:136:99:4052,295,0:1.000:99 chr17 33902635 rs1037590 G T 211.87 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.612;DP=28;Dels=0.00;FS=3.452;HRun=2;HaplotypeScore=0.0000;MQ=55.87;MQ0=0;MQRankSum=-0.094;QD=7.57;ReadPosRankSum=0.047;SB=-156.17;TI=NM_000286;GI=PEX12;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,11:28:99:242,0,429:0.393:99 chr17 33905468 rs321600 A G 55.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.034;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=55.97;MQ0=0;MQRankSum=1.257;QD=2.20;ReadPosRankSum=-0.306;SB=-48.19;TI=NM_000286;GI=PEX12;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,5:25:85.02:85,0,468:0.200:55 chr17 40689455 rs659497 T C 785.17 PASS AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=43.17;MQ0=0;QD=22.43;SB=-494.96;TI=NM_000263;GI=NAGLU;FC=Synonymous_S141S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,34:35:57.19:818,57,0:1.000:57 chr17 40696233 rs86312 C G 3156.45 PASS AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4156;MQ=46.95;MQ0=0;QD=24.85;SB=-2165.66;TI=NM_000263;GI=NAGLU;FC=Missense_R737G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,127:127:99:3189,223,0:1.000:99 chr17 42084067 rs55708447 T C 231.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.710;DP=31;Dels=0.00;FS=1.630;HRun=0;HaplotypeScore=1.7882;MQ=49.86;MQ0=0;MQRankSum=-0.872;QD=7.47;ReadPosRankSum=0.101;SB=-122.26;TI=NM_153006;GI=NAGS;FC=Synonymous_F362F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,12:31:99:262,0,512:0.387:99 chr17 42085972 rs186636 C T 173.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.14;MQ0=0;MQRankSum=1.852;QD=8.67;ReadPosRankSum=-1.323;SB=-129.53;TI=NM_153006;GI=NAGS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,10:20:99:203,0,255:0.500:99 chr17 42086180 rs640631 C T 1182.32 PASS AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=47.64;MQ0=0;QD=22.74;SB=-937.21;TI=NM_153006;GI=NAGS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,52:52:84.28:1215,84,0:1.000:84 chr17 42149134 rs11654132 G A 1087.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.079;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7714;MQ=45.66;MQ0=0;MQRankSum=-1.793;QD=10.26;ReadPosRankSum=-1.482;SB=-919.29;TI=NR_028581,NM_138387,NR_028582;GI=G6PC3,G6PC3,G6PC3;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,58:106:99:1118,0,988:0.547:99 chr17 42153562 rs1046770 G C 234.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.538;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55.54;MQ0=0;MQRankSum=1.487;QD=9.01;ReadPosRankSum=1.282;SB=-209.49;TI=NR_028581,NM_138387,NR_028582;GI=G6PC3,G6PC3,G6PC3;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,13:26:99:264,0,279:0.500:99 chr17 46024660 rs7220104 A C 291.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.843;DP=28;Dels=0.00;FS=3.372;HRun=0;HaplotypeScore=1.8939;MQ=52.95;MQ0=0;MQRankSum=0.184;QD=10.42;ReadPosRankSum=1.198;SB=-126.87;TI=NM_018129;GI=PNPO;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,13:28:99:322,0,360:0.464:99 chr17 46024791 . C CT 83.23 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.126;DP=31;FS=4.389;HRun=14;HaplotypeScore=136.5698;MQ=47.16;MQ0=1;MQRankSum=3.390;QD=2.68;ReadPosRankSum=0.837;SB=-48.67;TI=NM_018129;GI=PNPO;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,7:30:99:122,0,252:0.333:83 chr17 46024900 . CT C 81.61 R8;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.187;DP=26;FS=0.000;HRun=12;HaplotypeScore=143.5469;MQ=44.27;MQ0=1;MQRankSum=0.634;QD=3.14;ReadPosRankSum=1.455;SB=-3.51;TI=NM_018129;GI=PNPO;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,6:25:99:121,0,269:0.261:81 chr17 46026156 rs1986693 A G 1465.32 PASS AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=45.19;MQ0=0;QD=23.26;SB=-1115.41;TI=NM_018129;GI=PNPO;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,63:63:99:1498,105,0:1.000:99 chr17 48265495 rs1800215 T C 208.31 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=38.72;MQ0=0;QD=23.15;SB=-159.90;TI=NM_000088;GI=COL1A1;FC=Missense_T1075A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,9:9:18.06:241,18,0:1.000:18 chr17 48268223 rs2734272 A G 1516.68 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3097;MQ=45.48;MQ0=0;QD=22.64;SB=-1240.89;TI=NM_000088;GI=COL1A1;FC=Synonymous_T766T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:67:99:1550,105,0:1.000:99 chr17 48272414 . T G 31.44 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.197;DP=18;Dels=0.00;FS=6.422;HRun=0;HaplotypeScore=1.9852;MQ=43.26;MQ0=0;MQRankSum=-2.709;QD=1.75;ReadPosRankSum=-2.331;SB=-0.01;TI=NM_000088;GI=COL1A1;FC=Synonymous_G449G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,3:18:61.43:61,0,316:0.176:31 chr17 56282968 rs17174788 G C 439.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.042;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.81;MQ0=0;MQRankSum=-0.716;QD=11.26;ReadPosRankSum=0.098;SB=-306.72;TI=NM_017777,NM_001165927;GI=MKS1,MKS1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,20:39:99:469,0,429:0.513:99 chr17 72912862 rs1013013 G A 396.86 LowDP AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51.22;MQ0=0;QD=24.80;SB=-281.96;TI=NM_173477;GI=USH1G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,16:16:30.10:430,30,0:1.000:30 chr17 72913072 rs690566 T C 193.38 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.164;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.96;MQ0=0;MQRankSum=-1.164;QD=12.89;ReadPosRankSum=0.061;SB=-166.79;TI=NM_173477;GI=USH1G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,10:15:99:223,0,103:0.667:99 chr17 72913796 rs55654382 CT C 945.54 PASS AC=2;AF=1.00;AN=2;DP=22;FS=0.000;HRun=1;HaplotypeScore=33.6963;MQ=47.47;MQ0=0;QD=42.98;SB=-454.48;TI=NM_173477;GI=USH1G;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,22:22:66.22:988,66,0:1.000:66 chr17 73729660 rs61735297 G A 677.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.293;DP=98;Dels=0.00;FS=1.701;HRun=0;HaplotypeScore=2.8933;MQ=45.80;MQ0=0;MQRankSum=-2.399;QD=6.91;ReadPosRankSum=-0.586;SB=-524.52;TI=NM_000213,NM_001005731,NM_001005619;GI=ITGB4,ITGB4,ITGB4;FC=Missense_R515H,Missense_R515H,Missense_R515H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,36:98:99:708,0,1364:0.367:99 chr17 73750859 rs8669 C G 1851.46 PASS AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.28;MQ0=0;QD=23.14;SB=-1476.64;TI=NM_000213,NM_001005731,NM_001005619;GI=ITGB4,ITGB4,ITGB4;FC=Synonymous_P1507P,Synonymous_P1437P,Synonymous_P1437P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,80:80:99:1884,129,0:1.000:99 chr17 73753503 rs871443 T C 614.71 PASS AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=57.11;MQ0=0;QD=27.94;SB=-379.83;TI=NM_000213,NM_001005731,NM_001005619;GI=ITGB4,ITGB4,ITGB4;FC=Missense_L1779P,Missense_L1709P,Missense_L1762P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,21:22:48.15:648,48,0:1.000:48 chr17 73753661 rs9367 C T 248.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.215;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3882;MQ=38.06;MQ0=0;MQRankSum=1.200;QD=10.82;ReadPosRankSum=-0.708;SB=-23.61;TI=NM_000213,NM_001005731,NM_001005619;GI=ITGB4,ITGB4,ITGB4;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,11:23:99:279,0,348:0.478:99 chr17 73942196 rs71382188 C G 1078.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.355;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7871;MQ=50.01;MQ0=0;MQRankSum=-1.356;QD=10.17;ReadPosRankSum=-1.584;SB=-602.69;TI=NM_004035,NM_007292,NM_001185039;GI=ACOX1,ACOX1,ACOX1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,49:106:99:1109,0,1349:0.462:99 chr17 73949540 rs1135640 G C 1280.30 PASS AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.67;MQ0=0;QD=22.86;SB=-1055.09;TI=NM_004035,NM_007292,NM_001185039;GI=ACOX1,ACOX1,ACOX1;FC=Missense_I312M,Missense_I312M,Missense_I274M;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:56:90.30:1313,90,0:1.000:90 chr17 78078709 rs1800300 T C 230.99 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=19.25;SB=-197.92;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Synonymous_C108C,Synonymous_C108C,Synonymous_C108C;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,12:12:18.06:264,18,0:1.000:18 chr17 78079597 rs1042393 A G 1721.94 PASS AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=42.87;MQ0=0;QD=23.59;SB=-1379.84;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Missense_H199R,Missense_H199R,Missense_H199R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,73:73:99:1755,123,0:1.000:99 chr17 78079669 rs1042395 G A 976.68 PASS AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.43;MQ0=0;QD=22.71;SB=-785.99;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Missense_R223H,Missense_R223H,Missense_R223H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,43:43:69.23:1010,69,0:1.000:69 chr17 78082504 rs1800304 G A 1268.80 PASS AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=42.69;MQ0=0;QD=23.94;SB=-941.93;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Synonymous_Q401Q,Synonymous_Q401Q,Synonymous_Q401Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,53:53:90.30:1302,90,0:1.000:90 chr17 78087041 rs1800309 G A 839.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.270;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5215;MQ=49.51;MQ0=0;MQRankSum=-0.603;QD=10.62;ReadPosRankSum=0.770;SB=-620.20;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Missense_E689K,Missense_E689K,Missense_E689K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,40:79:99:869,0,773:0.506:99 chr17 78087109 rs1800310 A G 1005.72 PASS AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=44.04;MQ0=0;QD=23.39;SB=-712.01;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Synonymous_T711T,Synonymous_T711T,Synonymous_T711T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,43:43:72.24:1039,72,0:1.000:72 chr17 78091405 rs1126690 G A 2956.81 PASS AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=44.18;MQ0=0;QD=25.49;SB=-1730.13;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Missense_V780I,Missense_V780I,Missense_V780I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,116:116:99:2990,217,0:1.000:99 chr17 78092063 rs1042397 G A 234.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.695;DP=40;Dels=0.00;FS=1.302;HRun=0;HaplotypeScore=0.0000;MQ=45.76;MQ0=0;MQRankSum=-0.128;QD=5.86;ReadPosRankSum=0.581;SB=-180.49;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Synonymous_G851G,Synonymous_G851G,Synonymous_G851G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,14:40:99:264,0,549:0.350:99 chr17 78093353 rs8132 C T 304.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.646;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.40;MQ0=0;MQRankSum=-0.910;QD=8.02;ReadPosRankSum=-1.820;SB=-258.57;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,17:38:99:335,0,448:0.447:99 chr17 78183396 rs1046832 A G 2096.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.593;DP=218;Dels=0.00;FS=20.669;HRun=0;HaplotypeScore=11.7980;MQ=46.92;MQ0=6;MQRankSum=4.720;QD=9.62;ReadPosRankSum=0.540;SB=-1399.84;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:112,106:218:99:2127,0,2252:0.486:99 chr17 78183403 rs709677 G C 5303.12 PASS AC=2;AF=1.00;AN=2;DP=223;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.8702;MQ=47.19;MQ0=6;QD=23.78;SB=-3557.01;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,223:223:99:5303,403,0:1.000:99 chr17 78183411 rs709678 T C 5512.25 PASS AC=2;AF=1.00;AN=2;DP=223;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.7696;MQ=47.01;MQ0=5;QD=24.72;SB=-3869.76;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,222:223:99:5512,412,0:1.000:99 chr17 78183418 rs2012452 T C 2144.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.880;DP=229;Dels=0.00;FS=6.833;HRun=0;HaplotypeScore=15.6779;MQ=47.16;MQ0=5;MQRankSum=-2.398;QD=9.36;ReadPosRankSum=0.134;SB=-1222.59;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:117,111:229:99:2174,0,2612:0.487:99 chr17 78183476 . A G 214.90 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.421;DP=226;Dels=0.00;FS=35.748;HRun=0;HaplotypeScore=17.8068;MQ=46.30;MQ0=4;MQRankSum=-6.060;QD=0.95;ReadPosRankSum=1.462;SB=-0.01;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:195,31:226:99:245,0,4546:0.137:99 chr17 78183488 . T C 175.07 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.174;DP=234;Dels=0.00;FS=41.472;HRun=0;HaplotypeScore=16.2815;MQ=46.17;MQ0=2;MQRankSum=-6.696;QD=0.75;ReadPosRankSum=1.287;SB=-0.01;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:205,29:234:99:205,0,4662:0.124:99 chr17 78183936 rs2071148 G A 20.36 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.382;DP=11;Dels=0.00;FS=2.632;HRun=0;HaplotypeScore=0.0000;MQ=52.81;MQ0=0;MQRankSum=-1.377;QD=1.85;ReadPosRankSum=0.978;SB=-21.95;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,3:11:50.32:50,0,223:0.273:20 chr17 78184679 rs9894254 C T 222.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.386;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.64;MQ0=0;MQRankSum=0.283;QD=8.57;ReadPosRankSum=-1.414;SB=-147.17;TI=NM_000199;GI=SGSH;FC=Missense_V361I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,12:26:99:253,0,295:0.462:99 chr18 21124945 rs1788799 C G 1420.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.480;DP=161;Dels=0.00;FS=3.852;HRun=0;HaplotypeScore=14.4227;MQ=48.88;MQ0=0;MQRankSum=3.459;QD=8.82;ReadPosRankSum=0.741;SB=-879.79;TI=NM_000271;GI=NPC1;FC=Missense_M642I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:92,67:161:99:1451,0,1962:0.421:99 chr18 21148863 rs12970899 A G 2033.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.580;DP=179;Dels=0.00;FS=1.848;HRun=0;HaplotypeScore=4.6815;MQ=51.93;MQ0=0;MQRankSum=-0.658;QD=11.36;ReadPosRankSum=0.716;SB=-1472.54;TI=NM_000271;GI=NPC1;FC=Synonymous_Y129Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,96:179:99:2063,0,1674:0.536:99 chr18 21166545 rs8099071 G C 800.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.547;DP=73;Dels=0.00;FS=0.872;HRun=2;HaplotypeScore=2.6967;MQ=52.97;MQ0=0;MQRankSum=1.421;QD=10.97;ReadPosRankSum=-1.498;SB=-623.70;TI=NM_000271;GI=NPC1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,39:73:99:831,0,758:0.534:99 chr18 21413869 rs9962023 T C 2720.14 PASS AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48.68;MQ0=0;QD=24.07;SB=-1939.62;TI=NM_001127717,NM_198129;GI=LAMA3,LAMA3;FC=Synonymous_A967A,Synonymous_A967A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,113:113:99:2753,193,0:1.000:99 chr18 21437931 rs80114457 G C 1956.14 PASS AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.80;MQ0=0;QD=23.29;SB=-1522.62;TI=NM_001127717,NM_198129;GI=LAMA3,LAMA3;FC=Synonymous_G1420G,Synonymous_G1420G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,84:84:99:1989,138,0:1.000:99 chr18 21441717 rs12965685 C T 998.90 PASS AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.37;MQ0=0;QD=24.97;SB=-670.83;TI=NM_001127717,NM_198129;GI=LAMA3,LAMA3;FC=Synonymous_P1510P,Synonymous_P1510P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,40:40:72.24:1032,72,0:1.000:72 chr18 21511089 rs1154233 A G 4000.25 PASS AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3873;MQ=50.57;MQ0=0;QD=24.85;SB=-2813.13;TI=NM_001127717,NM_198129,NM_000227,NM_001127718;GI=LAMA3,LAMA3,LAMA3,LAMA3;FC=Missense_S2778G,Missense_S2834G,Missense_S1225G,Missense_S1169G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,161:161:99:4000,280,0:1.000:99 chr18 21534701 rs1051149 C A 6691.89 PASS AC=2;AF=1.00;AN=2;DP=255;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=50.01;MQ0=0;QD=26.24;SB=-4242.50;TI=NM_001127717,NM_198129,NM_000227,NM_001127718;GI=LAMA3,LAMA3,LAMA3,LAMA3;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,255:255:99:6692,473,0:1.000:99 chr18 21534703 rs1051150 C T 6502.45 PASS AC=2;AF=1.00;AN=2;DP=250;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=50.14;MQ0=0;QD=26.01;SB=-3945.23;TI=NM_001127717,NM_198129,NM_000227,NM_001127718;GI=LAMA3,LAMA3,LAMA3,LAMA3;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,249:250:99:6502,461,0:1.000:99 chr18 52889712 . G GA 584.19 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DP=151;FS=0.615;HRun=13;HaplotypeScore=366.2156;MQ=54.17;MQ0=0;MQRankSum=2.170;QD=3.87;ReadPosRankSum=1.390;SB=-292.31;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,43:151:99:623,0,1787:0.326:99 chr18 52889967 rs1261085 T C 3203.10 PASS AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6100;MQ=49.06;MQ0=0;QD=26.25;SB=-1921.22;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,122:122:99:3236,229,0:1.000:99 chr18 52890160 rs1261084 A G 3083.01 PASS AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=54.48;MQ0=0;QD=29.64;SB=-1809.17;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,104:104:99:3116,229,0:1.000:99 chr18 52890912 . CTTT CT,C 817.01 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-0.157;DP=37;FS=0.000;HaplotypeScore=253.0858;MQ=31.19;MQ0=0;MQRankSum=-2.849;QD=22.08;ReadPosRankSum=-1.033;SB=-211.56;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:12,0,6:36:61.63:895,62,62,479,0,529:0.333:61 chr18 52890946 . T TTC 1489.76 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.733;DP=38;FS=0.000;HRun=0;HaplotypeScore=396.6402;MQ=30.78;MQ0=1;MQRankSum=0.347;QD=39.20;ReadPosRankSum=0.644;SB=-746.64;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:9,27:36:97.23:1532,97,0:0.750:97 chr18 52890958 . A AT 508.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.617;DP=39;FS=0.000;HRun=7;HaplotypeScore=316.2185;MQ=30.85;MQ0=1;MQRankSum=-1.615;QD=13.05;ReadPosRankSum=0.000;SB=-147.24;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,19:38:99:548,0,444:0.487:99 chr18 52891283 rs35555522 GT G 1209.78 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.775;DP=103;FS=7.504;HRun=12;HaplotypeScore=149.9115;MQ=55.17;MQ0=0;MQRankSum=-0.460;QD=11.75;ReadPosRankSum=-0.540;SB=-414.93;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,51:103:99:1249,0,718:0.560:99 chr18 52891395 . CTT C,CT 900.96 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-0.168;DP=80;FS=0.000;HaplotypeScore=206.1016;MQ=47.03;MQ0=0;MQRankSum=-1.408;QD=11.26;ReadPosRankSum=0.088;SB=-375.09;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:20,13,7:80:89.46:979,444,877,89,0,215:0.500:89 chr18 52892561 . GACT G 4260.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.104;DP=171;FS=0.000;HRun=0;HaplotypeScore=91.0966;MQ=57.55;MQ0=0;MQRankSum=1.448;QD=24.92;ReadPosRankSum=-0.460;SB=-2047.17;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:92,79:171:99:4261,0,5057:0.462:99 chr18 52893255 . T TA 1705.15 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.860;DP=234;FS=1.707;HRun=9;HaplotypeScore=314.6620;MQ=56.23;MQ0=0;MQRankSum=3.988;QD=7.29;ReadPosRankSum=2.193;SB=-733.84;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:142,81:234:99:1744,0,3384:0.363:99 chr18 52893504 . AT A 2315.28 R8 AC=2;AF=1.00;AN=2;BaseQRankSum=1.223;DP=104;FS=0.000;HRun=11;HaplotypeScore=84.6325;MQ=52.31;MQ0=0;MQRankSum=0.052;QD=22.26;ReadPosRankSum=1.237;SB=-1045.99;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:10,82:104:99:2357,122,0:0.891:99 chr18 52893926 . G GA 1594.20 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.059;DP=185;FS=1.940;HRun=10;HaplotypeScore=255.6624;MQ=56.88;MQ0=0;MQRankSum=0.989;QD=8.62;ReadPosRankSum=-0.154;SB=-702.55;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:105,72:185:99:1633,0,2137:0.407:99 chr18 52894479 . C CAA 837.25 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.831;DP=130;FS=2.337;HRun=13;HaplotypeScore=306.0630;MQ=51.23;MQ0=1;MQRankSum=2.544;QD=6.44;ReadPosRankSum=1.012;SB=-436.48;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,31:128:99:876,0,1886:0.313:99 chr18 52895531 rs8766 T C 1923.63 PASS AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=46.19;MQ0=0;QD=24.05;SB=-1514.00;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Synonymous_S647S,Synonymous_S643S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,80:80:99:1957,138,0:1.000:99 chr18 53303101 rs611326 C G 3702.75 PASS AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6464;MQ=51.92;MQ0=0;QD=23.74;SB=-2882.45 GT:AD:DP:GQ:PL:VF:GQX 1/1:0,156:156:99:3703,256,0:1.000:99 chr18 55314211 rs1968274 T C 4616.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.368;DP=379;Dels=0.00;FS=0.791;HRun=0;HaplotypeScore=20.3538;MQ=53.81;MQ0=0;MQRankSum=3.272;QD=12.18;ReadPosRankSum=0.097;SB=-3181.43;TI=NM_005603;GI=ATP8B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:171,208:379:99:4617,0,3614:0.549:99 chr18 55314820 rs4940950 C A 2851.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.991;DP=285;Dels=0.00;FS=2.589;HRun=0;HaplotypeScore=8.9135;MQ=53.89;MQ0=0;MQRankSum=2.241;QD=10.01;ReadPosRankSum=-2.851;SB=-1802.06;TI=NM_005603;GI=ATP8B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:158,127:285:99:2882,0,3645:0.446:99 chr18 55315133 rs317822 C T 289.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.054;DP=33;Dels=0.00;FS=1.363;HRun=0;HaplotypeScore=0.9933;MQ=55.31;MQ0=0;MQRankSum=-0.380;QD=8.76;ReadPosRankSum=0.922;SB=-185.51;TI=NM_005603;GI=ATP8B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,15:33:99:319,0,454:0.455:99 chr18 55315437 rs11152024 C T 296.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.770;DP=45;Dels=0.00;FS=2.755;HRun=1;HaplotypeScore=0.0000;MQ=54.26;MQ0=0;MQRankSum=0.349;QD=6.59;ReadPosRankSum=1.553;SB=-176.40;TI=NM_005603;GI=ATP8B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,15:45:99:327,0,776:0.333:99 chr18 55317676 rs222581 C T 2708.94 PASS AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=47.63;MQ0=0;QD=23.35;SB=-2147.57;TI=NM_005603;GI=ATP8B1;FC=Missense_A1152T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,116:116:99:2742,190,0:1.000:99 chr18 55362532 rs319443 T G 11064.35 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.561;DP=385;Dels=0.00;FS=3.285;HRun=1;HaplotypeScore=19.4547;MQ=55.20;MQ0=0;MQRankSum=-1.003;QD=28.74;ReadPosRankSum=-0.922;SB=-6818.74;TI=NM_005603;GI=ATP8B1;FC=Synonymous_R271R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,384:385:99:11064,787,0:0.997:99 chr18 55364852 rs319438 A G 2990.93 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.589;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1513;MQ=50.93;MQ0=0;MQRankSum=1.074;QD=24.72;ReadPosRankSum=-1.245;SB=-2182.66;TI=NM_005603;GI=ATP8B1;FC=Synonymous_D232D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,120:121:99:3024,214,0:0.992:99 chr19 1388538 rs1142530 C T 925.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.721;DP=79;Dels=0.00;FS=0.845;HRun=0;HaplotypeScore=0.8941;MQ=48.48;MQ0=0;MQRankSum=-1.074;QD=11.72;ReadPosRankSum=1.172;SB=-637.66;TI=NM_024407;GI=NDUFS7;FC=Missense_P23L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,40:79:99:956,0,830:0.506:99 chr19 7114058 . CAA C 189.58 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.482;DP=31;FS=2.098;HRun=25;HaplotypeScore=138.5645;MQ=38.04;MQ0=0;MQRankSum=-0.132;QD=6.12;ReadPosRankSum=-1.272;SB=-62.84;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,4:31:49.30:229,0,49:0.148:49 chr19 7114288 rs3745551 C T 410.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.892;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.74;MQ0=0;MQRankSum=-0.472;QD=12.06;ReadPosRankSum=-0.647;SB=-311.06;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,20:34:99:440,0,343:0.588:99 chr19 7114920 . G GT,GTT 2197.77 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=1.011;DP=114;FS=0.000;HaplotypeScore=129.9225;MQ=56.75;MQ0=0;MQRankSum=2.516;QD=19.28;ReadPosRankSum=-0.927;SB=-955.99;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:16,79,18:114:99:2276,136,159,1680,0,2056:0.858:99 chr19 7115573 rs3745550 C T 1545.07 PASS AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=41.38;MQ0=0;QD=23.77;SB=-1191.30;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,65:65:99:1578,108,0:1.000:99 chr19 7116136 . C CT 784.21 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.181;DP=86;FS=2.282;HRun=13;HaplotypeScore=270.3032;MQ=49.02;MQ0=0;MQRankSum=0.584;QD=9.12;ReadPosRankSum=-0.571;SB=-384.13;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,30:85:99:823,0,164:0.405:99 chr19 7116150 . A T 18.45 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.484;DP=85;Dels=0.00;FS=55.189;HRun=13;HaplotypeScore=43.4409;MQ=48.54;MQ0=0;MQRankSum=-0.495;QD=0.22;ReadPosRankSum=-3.673;SB=-0.01;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,13:85:48.38:48,0,1919:0.155:18 chr19 7116711 . CAAA CA,C 898.99 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.695;DP=51;FS=0.000;HaplotypeScore=265.7658;MQ=43.40;MQ0=0;MQRankSum=-1.335;QD=17.63;ReadPosRankSum=0.668;SB=-379.00;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:14,0,9:51:99:977,248,186,227,0,237:0.391:99 chr19 7116774 . C G 37.50 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.450;DP=39;Dels=0.00;FS=4.494;HRun=5;HaplotypeScore=28.0190;MQ=43.58;MQ0=0;MQRankSum=-2.783;QD=0.96;ReadPosRankSum=1.517;SB=-0.01;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,9:39:67.50:67,0,797:0.231:37 chr19 7116778 . T G 48.39 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.617;DP=37;Dels=0.00;FS=13.719;HRun=6;HaplotypeScore=19.7296;MQ=44.75;MQ0=0;MQRankSum=-3.634;QD=1.31;ReadPosRankSum=1.845;SB=-0.01;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,8:37:78.38:78,0,695:0.222:48 chr19 7116963 rs1051690 T C 1638.68 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.681;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7732;MQ=44.48;MQ0=0;MQRankSum=0.284;QD=24.46;ReadPosRankSum=0.698;SB=-1190.59;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,66:67:99:1672,117,0:0.985:99 chr19 7163065 rs2962 G A 944.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.616;DP=108;Dels=0.00;FS=2.549;HRun=2;HaplotypeScore=4.5423;MQ=46.53;MQ0=0;MQRankSum=0.109;QD=8.75;ReadPosRankSum=0.822;SB=-576.18;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Synonymous_F669F,Synonymous_F669F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,44:108:99:975,0,1351:0.407:99 chr19 7166388 rs2229429 G A 162.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.320;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.13;MQ0=0;MQRankSum=0.404;QD=3.77;ReadPosRankSum=-0.264;SB=-138.91;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Synonymous_D546D,Synonymous_D546D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,11:43:99:192,0,714:0.256:99 chr19 7293898 rs7508518 G C 36.43 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=18.22;SB=-26.42;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Missense_A2G,Missense_A2G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.01:68,6,0:1.000:6 chr19 7593589 rs612862 C T 819.87 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.217;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3328;MQ=45.03;MQ0=0;MQRankSum=-1.037;QD=7.96;ReadPosRankSum=-1.837;SB=-678.81;TI=NM_020533;GI=MCOLN1;FC=Synonymous_N328N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,44:103:99:850,0,1237:0.427:99 chr19 7711221 rs10001 T C 860.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.006;DP=92;Dels=0.00;FS=2.771;HRun=0;HaplotypeScore=6.3363;MQ=47.65;MQ0=0;MQRankSum=1.147;QD=9.35;ReadPosRankSum=2.757;SB=-579.73;TI=NM_006949,NM_001127396;GI=STXBP2,STXBP2;FC=Synonymous_D481D,Synonymous_D478D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,41:92:99:890,0,1084:0.446:99 chr19 7712277 rs6791 A G 612.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.346;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7597;MQ=45.15;MQ0=0;MQRankSum=-0.435;QD=7.65;ReadPosRankSum=0.227;SB=-440.46;TI=NM_006949,NM_001127396;GI=STXBP2,STXBP2;FC=Missense_I526V,Missense_I523V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,31:80:99:642,0,986:0.388:99 chr19 8376431 rs561 G A 740.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.268;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=47.01;MQ0=0;MQRankSum=-1.943;QD=12.13;ReadPosRankSum=-1.210;SB=-627.80;TI=NM_005001;GI=NDUFA7;FC=Synonymous_P100P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,36:61:99:770,0,545:0.590:99 chr19 10469975 rs12720356 A C 568.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.915;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.57;MQ0=0;MQRankSum=-0.862;QD=8.75;ReadPosRankSum=0.967;SB=-487.05;TI=NM_003331;GI=TYK2;FC=Missense_I684S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,30:65:99:598,0,752:0.462:99 chr19 10475652 rs2304256 C A 2254.31 PASS AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=50.45;MQ0=0;QD=23.00;SB=-1617.76;TI=NM_003331;GI=TYK2;FC=Missense_V362F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,98:98:99:2287,157,0:1.000:99 chr19 12758105 . C G 340.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.088;DP=38;Dels=0.00;FS=1.239;HRun=1;HaplotypeScore=0.8941;MQ=46.81;MQ0=0;MQRankSum=1.585;QD=8.95;ReadPosRankSum=0.734;SB=-220.43;TI=NM_001173498,NM_000528;GI=MAN2B1,MAN2B1;FC=Synonymous_T954T,Synonymous_T955T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,17:38:99:370,0,425:0.447:99 chr19 12772090 rs1133330 C T 1218.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.549;DP=121;Dels=0.00;FS=0.681;HRun=0;HaplotypeScore=4.4085;MQ=45.43;MQ0=0;MQRankSum=-2.229;QD=10.07;ReadPosRankSum=0.654;SB=-1001.48;TI=NM_001173498,NM_000528;GI=MAN2B1,MAN2B1;FC=Missense_R337Q,Missense_R337Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,62:121:99:1249,0,1167:0.517:99 chr19 12772165 rs1054487 G A 986.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.866;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5977;MQ=47.01;MQ0=0;MQRankSum=-3.119;QD=8.57;ReadPosRankSum=1.488;SB=-866.42;TI=NM_001173498,NM_000528;GI=MAN2B1,MAN2B1;FC=Missense_T312I,Missense_T312I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,54:115:99:1016,0,1237:0.470:99 chr19 12774208 rs1054486 G C 705.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.368;DP=78;Dels=0.00;FS=0.859;HRun=1;HaplotypeScore=1.8583;MQ=42.99;MQ0=0;MQRankSum=-1.639;QD=9.04;ReadPosRankSum=1.679;SB=-551.29;TI=NM_001173498,NM_000528;GI=MAN2B1,MAN2B1;FC=Missense_L278V,Missense_L278V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,36:78:99:735,0,877:0.462:99 chr19 17936532 . A G 133.72 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.660;DP=13;Dels=0.00;FS=7.404;HRun=0;HaplotypeScore=1.7882;MQ=43.61;MQ0=0;MQRankSum=-1.791;QD=10.29;ReadPosRankSum=-3.016;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,6:13:99:164,0,154:0.462:99 chr19 17936535 . C T 128.96 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.093;DP=13;Dels=0.00;FS=7.404;HRun=0;HaplotypeScore=1.7882;MQ=43.61;MQ0=0;MQRankSum=-2.627;QD=9.92;ReadPosRankSum=-3.016;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,6:13:99:159,0,157:0.462:99 chr19 17936543 . T A 137.51 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=2.074;DP=13;Dels=0.00;FS=7.404;HRun=1;HaplotypeScore=0.8941;MQ=43.61;MQ0=0;MQRankSum=-2.777;QD=10.58;ReadPosRankSum=-3.016;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,6:13:99:168,0,158:0.462:99 chr19 17936545 . C A 137.51 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.935;DP=13;Dels=0.00;FS=7.160;HRun=1;HaplotypeScore=0.8941;MQ=43.61;MQ0=0;MQRankSum=-1.656;QD=10.58;ReadPosRankSum=-3.016;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,6:13:99:168,0,162:0.462:99 chr19 17936546 . T A 135.63 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.555;DP=13;Dels=0.00;FS=7.160;HRun=5;HaplotypeScore=0.8941;MQ=43.61;MQ0=0;MQRankSum=-2.281;QD=10.43;ReadPosRankSum=-3.016;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,6:13:99:166,0,162:0.462:99 chr19 17936552 . T A 137.51 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.377;DP=13;Dels=0.00;FS=7.404;HRun=5;HaplotypeScore=0.8941;MQ=43.61;MQ0=0;MQRankSum=-1.493;QD=10.58;ReadPosRankSum=-3.016;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,6:13:99:168,0,160:0.462:99 chr19 17936554 . C A 137.51 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.660;DP=13;Dels=0.00;FS=3.424;HRun=6;HaplotypeScore=0.0000;MQ=43.61;MQ0=0;MQRankSum=-3.016;QD=10.58;ReadPosRankSum=-3.016;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,6:13:99:168,0,160:0.462:99 chr19 17936600 . C T 15.99 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-2.262;DP=11;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.5567;MQ=44.66;MQ0=0;MQRankSum=-1.377;QD=1.45;ReadPosRankSum=-0.382;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,3:11:45.88:46,0,219:0.273:15 chr19 17945471 rs35458530 G A 1097.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.772;DP=81;Dels=0.00;FS=0.890;HRun=0;HaplotypeScore=6.5691;MQ=48.30;MQ0=0;MQRankSum=-2.900;QD=13.54;ReadPosRankSum=-1.793;SB=-686.88;TI=NM_000215;GI=JAK3;FC=Synonymous_A753A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,50:81:99:1127,0,623:0.617:99 chr19 36322270 rs2071327 C T 1103.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.164;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8936;MQ=49.72;MQ0=0;MQRankSum=2.073;QD=8.30;ReadPosRankSum=-0.731;SB=-733.21;TI=NM_004646;GI=NPHS1;FC=Synonymous_S1105S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:81,52:133:99:1134,0,1854:0.391:99 chr19 36322601 rs4806213 T C 546.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.501;DP=61;Dels=0.00;FS=0.983;HRun=0;HaplotypeScore=5.5483;MQ=46.00;MQ0=0;MQRankSum=-1.561;QD=8.96;ReadPosRankSum=-0.675;SB=-373.19;TI=NM_004646;GI=NPHS1;FC=Missense_N1077S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,27:61:99:577,0,662:0.443:99 chr19 36342212 rs3814995 C T 207.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.641;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9995;MQ=47.11;MQ0=0;MQRankSum=-0.840;QD=4.93;ReadPosRankSum=0.921;SB=-185.18;TI=NM_004646;GI=NPHS1;FC=Missense_E117K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,14:42:99:237,0,637:0.333:99 chr19 39994711 rs1110627 T C 1805.20 PASS AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=45.33;MQ0=0;QD=23.44;SB=-1417.47;TI=NM_203486,NM_016941;GI=DLL3,DLL3;FC=Unknown_218,Unknown_218;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,77:77:99:1838,126,0:1.000:99 chr19 39996027 rs2304214 C T 539.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.755;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=39.32;MQ0=0;MQRankSum=-1.617;QD=8.56;ReadPosRankSum=0.489;SB=-494.26;TI=NM_203486,NM_016941;GI=DLL3,DLL3;FC=Synonymous_P343P,Synonymous_P343P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,30:63:99:569,0,717:0.476:99 chr19 40900865 rs268674 C T 747.80 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.28;MQ0=0;QD=23.37;SB=-584.96;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Missense_G1132R,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,32:32:54.18:781,54,0:1.000:54 chr19 40901496 rs268673 T C 1601.61 PASS AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.36;MQ0=0;QD=24.27;SB=-1214.22;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Missense_I921M,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,66:66:99:1635,114,0:1.000:99 chr19 40901604 rs268672 A G 1416.56 PASS AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=50.34;MQ0=0;QD=24.85;SB=-956.51;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Synonymous_P885P,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,57:57:99:1450,102,0:1.000:99 chr19 40901614 rs268671 A G 1251.76 PASS AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=52.19;MQ0=0;QD=25.55;SB=-843.51;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Missense_V882A,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,49:49:90.30:1285,90,0:1.000:90 chr19 44031324 rs3810381 C T 717.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.304;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=51.68;MQ0=0;MQRankSum=1.140;QD=11.96;ReadPosRankSum=0.405;SB=-477.20;TI=NM_014297;GI=ETHE1;FC=Synonymous_A2A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,35:60:99:747,0,528:0.583:99 chr19 45854919 rs13181 T G 492.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.437;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7878;MQ=47.14;MQ0=0;MQRankSum=-0.593;QD=13.68;ReadPosRankSum=-1.252;SB=-355.51;TI=NM_000400;GI=ERCC2;FC=Missense_K751Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,23:36:99:523,0,273:0.639:99 chr19 45855524 rs1052555 G A 558.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.358;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7252;MQ=47.63;MQ0=0;MQRankSum=-3.013;QD=6.50;ReadPosRankSum=1.115;SB=-425.03;TI=NM_000400;GI=ERCC2;FC=Synonymous_D711D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,31:86:99:589,0,1166:0.360:99 chr19 45867259 rs1799793 C T 38.62 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.03;MQ0=0;MQRankSum=1.231;QD=7.72;ReadPosRankSum=-0.358;SB=-0.01;TI=NM_000400,NM_001130867;GI=ERCC2,ERCC2;FC=Missense_D312N,Missense_D288N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:5:68.61:69,0,73:0.400:38 chr19 45868309 rs238406 T G 436.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.324;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5981;MQ=48.35;MQ0=0;MQRankSum=-2.466;QD=10.14;ReadPosRankSum=0.109;SB=-293.94;TI=NM_000400,NM_001130867;GI=ERCC2,ERCC2;FC=Synonymous_R156R,Synonymous_R132R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,22:43:99:466,0,428:0.512:99 chr19 46031606 rs7259834 T C 1580.74 PASS AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=45.71;MQ0=0;QD=24.32;SB=-1116.10;TI=NM_001017989;GI=OPA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,64:65:99:1614,114,0:1.000:99 chr19 46050760 rs11083772 T C 1276.84 PASS AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8936;MQ=58.59;MQ0=0;QD=31.92;SB=-402.58;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,39:40:96.31:1310,96,0:1.000:96 chr19 46051249 rs57585727 C T 782.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.569;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=48.89;MQ0=0;MQRankSum=0.506;QD=12.04;ReadPosRankSum=0.627;SB=-670.32;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,40:65:99:813,0,508:0.615:99 chr19 46051915 rs4803833 T A 297.82 LowGQ;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.579;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.6651;MQ=54.35;MQ0=0;MQRankSum=-1.738;QD=24.82;ReadPosRankSum=-0.869;SB=-162.09;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,11:12:10.55:328,0,11:0.917:10 chr19 46051919 . ATTT A 476.24 R8;LowDP AC=2;AF=1.00;AN=2;DP=12;FS=0.000;HRun=14;HaplotypeScore=57.4806;MQ=54.35;MQ0=0;QD=39.69;SB=-153.56;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,10:12:35.69:518,36,0:0.909:35 chr19 46052048 . CTTAT C,CTTATTTAT 5957.79 PASS AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=1.834;DP=120;FS=0.000;HaplotypeScore=65.8877;MQ=54.82;MQ0=0;MQRankSum=1.789;QD=49.65;ReadPosRankSum=-1.288;SB=-2963.31;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:17,50,0:120:99:5958,3202,5226,2963,0,4710:0.746:99 chr19 46052454 rs4802261 A G 191.10 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.52;MQ0=0;QD=17.37;SB=-193.50;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,11:11:15.05:224,15,0:1.000:15 chr19 46052745 . GT G 58.86 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.028;DP=28;FS=0.000;HRun=12;HaplotypeScore=76.5146;MQ=47.63;MQ0=0;MQRankSum=-1.411;QD=2.10;ReadPosRankSum=-0.747;SB=-33.68;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,6:28:97.89:98,0,421:0.240:58 chr19 46052894 rs79660166 T C 196.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.342;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.87;MQ0=0;MQRankSum=-0.631;QD=5.79;ReadPosRankSum=-0.703;SB=-155.53;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,12:34:99:227,0,451:0.353:99 chr19 46053655 rs78205570 G GGCT 698.71 LowDP AC=2;AF=1.00;AN=2;DP=14;FS=0.000;HRun=0;HaplotypeScore=16.8315;MQ=52.95;MQ0=0;QD=49.91;SB=-200.44;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,12:14:42.13:741,42,0:0.857:42 chr19 46054822 rs4404183 C T 1780.40 PASS AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.90;MQ0=0;QD=24.73;SB=-1374.13;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,72:72:99:1813,126,0:1.000:99 chr19 46055785 rs34303121 AT A 143.02 R8;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.702;DP=18;FS=0.000;HRun=16;HaplotypeScore=35.0058;MQ=39.19;MQ0=0;MQRankSum=1.639;QD=7.95;ReadPosRankSum=2.201;SB=-80.49;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,9:18:53.65:182,0,54:0.692:53 chr19 46055946 . G T 67.22 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.287;DP=36;Dels=0.00;FS=12.792;HRun=4;HaplotypeScore=0.8941;MQ=43.60;MQ0=0;MQRankSum=-3.522;QD=1.87;ReadPosRankSum=-3.568;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,5:36:97.22:97,0,633:0.139:67 chr19 46055947 . G T 43.55 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.601;DP=36;Dels=0.00;FS=9.634;HRun=4;HaplotypeScore=0.8941;MQ=43.60;MQ0=0;MQRankSum=-3.568;QD=1.21;ReadPosRankSum=-3.568;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,5:36:73.54:74,0,645:0.139:43 chr19 46055952 . A G 72.10 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.186;DP=36;Dels=0.00;FS=13.326;HRun=0;HaplotypeScore=0.8941;MQ=43.60;MQ0=0;MQRankSum=-2.738;QD=2.00;ReadPosRankSum=-2.780;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,6:36:99:102,0,617:0.167:72 chr19 46055957 . G A 69.19 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.872;DP=35;Dels=0.00;FS=12.441;HRun=0;HaplotypeScore=1.7882;MQ=43.04;MQ0=0;MQRankSum=-3.559;QD=1.98;ReadPosRankSum=-3.323;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,5:35:99:99,0,638:0.143:69 chr19 46055958 . G C 43.55 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.024;DP=35;Dels=0.00;FS=9.469;HRun=0;HaplotypeScore=1.7882;MQ=43.04;MQ0=0;MQRankSum=-3.465;QD=1.24;ReadPosRankSum=-3.135;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,5:35:73.54:74,0,641:0.143:43 chr19 46055959 . T A 73.97 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.108;DP=35;Dels=0.00;FS=12.441;HRun=0;HaplotypeScore=1.7882;MQ=43.04;MQ0=0;MQRankSum=-3.512;QD=2.11;ReadPosRankSum=-3.135;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,5:35:99:104,0,638:0.143:73 chr19 46056134 . A T 217.76 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.396;DP=12;Dels=0.00;FS=2.881;HRun=1;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=-0.537;QD=18.15;ReadPosRankSum=1.396;SB=-158.07;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,10:12:46.84:248,0,47:0.833:46 chr19 46056195 rs73568987 A G 192.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.135;DP=34;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7608;MQ=50.84;MQ0=0;MQRankSum=1.279;QD=5.67;ReadPosRankSum=0.198;SB=-145.35;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,12:34:99:223,0,492:0.353:99 chr19 46056620 rs3826861 C T 1410.51 PASS AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=46.53;MQ0=0;QD=23.12;SB=-1171.22;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,61:61:99:1444,99,0:1.000:99 chr19 46057081 rs3826860 A G 1967.92 PASS AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.20;MQ0=0;QD=22.62;SB=-1685.74;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Synonymous_A77A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,87:87:99:2001,135,0:1.000:99 chr19 47258842 rs2287717 C T 226.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.196;DP=20;Dels=0.00;FS=1.820;HRun=0;HaplotypeScore=0.8941;MQ=52.03;MQ0=0;MQRankSum=-1.273;QD=11.33;ReadPosRankSum=-0.656;SB=-134.47;TI=NM_024301,NM_001039885;GI=FKRP,FKRP;FC=Synonymous_A45A,Synonymous_A45A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,12:20:99:257,0,179:0.600:99 chr19 50410871 . G C 14.92 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51.77;MQ0=0;MQRankSum=0.736;QD=4.97;ReadPosRankSum=0.736;SB=-37.80;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,2:3:3.01:45,3,0:0.667:3 chr19 50410965 . G T 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.380;DP=6;Dels=0.00;FS=3.310;HRun=5;HaplotypeScore=0.0000;MQ=38.43;MQ0=0;MQRankSum=-0.720;QD=3.64;ReadPosRankSum=-1.380;SB=-0.01;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:51.83:52,0,98:0.333:21 chr19 50410967 . A T 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.380;DP=6;Dels=0.00;FS=3.310;HRun=5;HaplotypeScore=0.8941;MQ=38.43;MQ0=0;MQRankSum=-1.380;QD=3.64;ReadPosRankSum=-1.380;SB=-0.01;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:51.82:52,0,104:0.333:21 chr19 50410973 . A T 18.88 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DP=7;Dels=0.00;FS=3.680;HRun=5;HaplotypeScore=1.7608;MQ=42.19;MQ0=0;MQRankSum=-1.495;QD=2.70;ReadPosRankSum=-0.922;SB=-0.01;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:48.81:49,0,136:0.286:18 chr19 50410974 . G T 18.88 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DP=7;Dels=0.00;FS=3.680;HRun=1;HaplotypeScore=1.7608;MQ=42.19;MQ0=0;MQRankSum=-1.495;QD=2.70;ReadPosRankSum=-0.922;SB=-0.01;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:48.81:49,0,137:0.286:18 chr19 50410976 . A T 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.720;DP=7;Dels=0.00;FS=3.979;HRun=1;HaplotypeScore=2.7604;MQ=42.19;MQ0=0;MQRankSum=-1.380;QD=3.12;ReadPosRankSum=-0.720;SB=-0.00;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:7:51.82:52,0,108:0.333:21 chr19 50410982 . G A 18.88 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DP=7;Dels=0.00;FS=3.680;HRun=0;HaplotypeScore=2.7604;MQ=42.19;MQ0=0;MQRankSum=-1.495;QD=2.70;ReadPosRankSum=-0.198;SB=-0.01;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:48.81:49,0,139:0.286:18 chr19 50410984 . G A 18.88 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DP=7;Dels=0.00;FS=3.680;HRun=0;HaplotypeScore=2.7604;MQ=42.19;MQ0=0;MQRankSum=-1.495;QD=2.70;ReadPosRankSum=-0.198;SB=-0.01;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:48.82:49,0,132:0.286:18 chr19 50410987 . T C 18.88 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DP=7;Dels=0.00;FS=3.680;HRun=0;HaplotypeScore=1.8663;MQ=42.19;MQ0=0;MQRankSum=-1.495;QD=2.70;ReadPosRankSum=-0.198;SB=-0.01;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:48.81:49,0,139:0.286:18 chr19 50410999 . G C 17.02 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DP=7;Dels=0.00;FS=8.451;HRun=2;HaplotypeScore=4.7831;MQ=42.19;MQ0=0;MQRankSum=-1.495;QD=2.43;ReadPosRankSum=-1.495;SB=-0.00;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:46.93:47,0,138:0.286:17 chr19 50411001 . C T 18.88 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DP=7;Dels=0.00;FS=8.451;HRun=0;HaplotypeScore=4.7831;MQ=42.19;MQ0=0;MQRankSum=-0.922;QD=2.70;ReadPosRankSum=-1.495;SB=-0.00;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:48.81:49,0,141:0.286:18 chr19 50411158 rs1044276 T C 146.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.456;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=54.92;MQ0=0;MQRankSum=0.304;QD=7.32;ReadPosRankSum=-1.216;SB=-131.21;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,9:20:99:176,0,264:0.450:99 chr19 50411395 rs11547267 C G 722.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.162;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=52.16;MQ0=0;MQRankSum=-1.533;QD=10.95;ReadPosRankSum=-1.315;SB=-535.01;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,34:66:99:753,0,675:0.515:99 chr19 50411742 rs892028 A G 536.00 PASS AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.17;MQ0=0;QD=23.30;SB=-395.60;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Synonymous_D441D,Synonymous_D441D,Synonymous_D441D,Synonymous_D441D,Synonymous_D441D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,23:23:39.13:569,39,0:1.000:39 chr19 50412417 rs999583 G A 626.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.504;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=44.23;MQ0=0;MQRankSum=-0.105;QD=10.99;ReadPosRankSum=2.147;SB=-549.31;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Synonymous_S216S,Synonymous_S216S,Synonymous_S216S,Synonymous_S216S,Synonymous_S216S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,32:57:99:657,0,537:0.561:99 chr19 51850290 rs1130426 G A 2320.48 PASS AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3536;MQ=47.99;MQ0=0;QD=23.44;SB=-1778.74;TI=NM_001014763,NM_001985;GI=ETFB,ETFB;FC=Missense_T245M,Missense_T154M;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,99:99:99:2353,163,0:1.000:99 chr20 3870079 rs71647828 T A 537.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.799;DP=33;Dels=0.00;FS=1.670;HRun=0;HaplotypeScore=5.3963;MQ=53.44;MQ0=0;MQRankSum=0.788;QD=16.29;ReadPosRankSum=1.516;SB=-285.53;TI=NM_024960,NM_153638;GI=PANK2,PANK2;FC=Silent,Missense_L111Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,24:33:99:568,0,218:0.727:99 chr20 3870124 rs3737084 G C 303.01 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.401;DP=14;Dels=0.00;FS=2.622;HRun=0;HaplotypeScore=2.9632;MQ=55.54;MQ0=0;MQRankSum=-0.311;QD=21.64;ReadPosRankSum=0.778;SB=-59.92;TI=NM_024960,NM_153638;GI=PANK2,PANK2;FC=Silent,Missense_G126A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,11:14:78.61:333,0,79:0.786:78 chr20 43252915 rs244076 T C 798.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=80;Dels=0.00;FS=0.857;HRun=1;HaplotypeScore=2.6823;MQ=44.21;MQ0=0;MQRankSum=-0.880;QD=9.98;ReadPosRankSum=0.707;SB=-593.30;TI=NM_000022;GI=ADA;FC=Synonymous_V178V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,40:80:99:828,0,802:0.500:99 chr20 43255220 rs11555566 T C 547.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.067;DP=110;Dels=0.00;FS=0.778;HRun=0;HaplotypeScore=4.7496;MQ=45.37;MQ0=0;MQRankSum=0.844;QD=4.98;ReadPosRankSum=2.629;SB=-434.07;TI=NM_000022;GI=ADA;FC=Missense_K80R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,34:110:99:578,0,1608:0.309:99 chr20 43264927 rs394105 C T 1737.76 PASS AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6714;MQ=51.28;MQ0=0;QD=25.18;SB=-1255.55;TI=NM_000022;GI=ADA;FC=Synonymous_V12V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,69:69:99:1771,123,0:1.000:99 chr20 43280227 rs73598374 C T 500.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.863;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6203;MQ=50.31;MQ0=0;MQRankSum=1.378;QD=10.01;ReadPosRankSum=-0.466;SB=-334.30;TI=NM_000022;GI=ADA;FC=Missense_D8N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,25:50:99:531,0,590:0.500:99 chr20 57899653 . AC A 257.75 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.611;DP=43;FS=1.354;HRun=10;HaplotypeScore=109.4531;MQ=52.53;MQ0=0;MQRankSum=-0.454;QD=5.99;ReadPosRankSum=-0.642;SB=-141.18;TI=NM_207034,NM_000114,NM_207032,NM_207033;GI=EDN3,EDN3,EDN3,EDN3;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,13:43:99:297,0,504:0.310:99 chr21 34775654 . C G 54.62 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.731;DP=7;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=11.8828;MQ=27.61;MQ0=0;MQRankSum=-0.731;QD=7.80;ReadPosRankSum=-0.731;SB=-0.01;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,4:7:9:87,9,0:0.800:9 chr21 34775678 . C G 31.82 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=15.91;SB=-0.01;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.01:63,6,0:1.000:6 chr21 34805146 . A C 1462.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.631;DP=165;Dels=0.00;FS=2.819;HRun=1;HaplotypeScore=7.4853;MQ=44.65;MQ0=0;MQRankSum=0.108;QD=8.87;ReadPosRankSum=-1.210;SB=-870.67;TI=NM_005534;GI=IFNGR2;FC=Missense_T283P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:97,68:165:99:1493,0,2037:0.412:99 chr21 34809433 . CT C 285.70 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.091;DP=138;FS=5.179;HRun=13;HaplotypeScore=293.8058;MQ=53.86;MQ0=0;MQRankSum=2.489;QD=2.07;ReadPosRankSum=-0.601;SB=-91.21;TI=NM_005534;GI=IFNGR2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,25:138:99:325,0,1930:0.216:99 chr21 38123404 rs5843777 A AAT 3602.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.326;DP=166;FS=0.000;HRun=0;HaplotypeScore=130.6544;MQ=57.58;MQ0=0;MQRankSum=0.455;QD=21.70;ReadPosRankSum=-0.937;SB=-1480.44;TI=NM_000411;GI=HLCS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,82:166:99:3603,0,3583:0.494:99 chr21 38123925 rs14407 C T 1444.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.738;DP=140;Dels=0.00;FS=0.621;HRun=0;HaplotypeScore=6.5378;MQ=44.26;MQ0=0;MQRankSum=-3.175;QD=10.32;ReadPosRankSum=0.443;SB=-1218.81;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,75:140:99:1474,0,1357:0.536:99 chr21 38126507 rs77014096 T C 2482.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.653;DP=195;Dels=0.00;FS=1.844;HRun=0;HaplotypeScore=16.3581;MQ=52.71;MQ0=0;MQRankSum=0.471;QD=12.73;ReadPosRankSum=-1.234;SB=-1418.50;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,107:195:99:2513,0,2057:0.552:99 chr21 38308911 rs1065758 G A 251.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.709;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=54.26;MQ0=0;MQRankSum=-1.630;QD=7.41;ReadPosRankSum=-1.666;SB=-188.89;TI=NM_000411;GI=HLCS;FC=Synonymous_S278S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,13:34:99:282,0,486:0.382:99 chr21 38362470 . A G 517.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.060;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=42.28;MQ0=0;MQRankSum=-1.278;QD=7.96;ReadPosRankSum=-2.656;SB=-432.76;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,28:65:99:547,0,717:0.431:99 chr21 38362498 . G A 314.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.135;DP=50;Dels=0.00;FS=1.109;HRun=0;HaplotypeScore=2.6274;MQ=41.83;MQ0=0;MQRankSum=0.280;QD=6.28;ReadPosRankSum=-1.732;SB=-257.39;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,18:50:99:344,0,667:0.367:99 chr21 38362531 . T C 125.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.415;DP=35;Dels=0.00;FS=1.500;HRun=3;HaplotypeScore=0.0000;MQ=44.86;MQ0=0;MQRankSum=1.113;QD=3.57;ReadPosRankSum=-0.660;SB=-95.59;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,9:35:99:155,0,592:0.257:99 chr21 38362536 . T C 164.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.383;DP=35;Dels=0.00;FS=1.407;HRun=0;HaplotypeScore=1.7882;MQ=47.62;MQ0=0;MQRankSum=2.100;QD=4.69;ReadPosRankSum=-1.479;SB=-97.72;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,10:35:99:194,0,578:0.286:99 chr21 44473425 rs706209 G A 1358.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.741;DP=128;Dels=0.00;FS=0.662;HRun=0;HaplotypeScore=3.7869;MQ=52.56;MQ0=0;MQRankSum=1.117;QD=10.61;ReadPosRankSum=1.708;SB=-874.76;TI=NM_000071,NM_001178009,NM_001178008;GI=CBS,CBS,CBS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,56:128:99:1389,0,1732:0.438:99 chr21 44473446 rs706208 A G 1555.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.585;DP=116;Dels=0.00;FS=0.694;HRun=1;HaplotypeScore=2.7865;MQ=53.60;MQ0=0;MQRankSum=1.685;QD=13.41;ReadPosRankSum=-1.657;SB=-975.79;TI=NM_000071,NM_001178009,NM_001178008;GI=CBS,CBS,CBS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,63:116:99:1585,0,1332:0.543:99 chr21 44480591 . G A 514.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.476;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=44.51;MQ0=0;MQRankSum=-0.211;QD=7.56;ReadPosRankSum=0.037;SB=-433.26;TI=NM_000071,NM_001178009,NM_001178008;GI=CBS,CBS,CBS;FC=Missense_R369C,Missense_R369C,Missense_R369C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,29:68:99:544,0,778:0.426:99 chr21 44480616 rs1801181 G A 263.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.751;DP=39;Dels=0.00;FS=1.289;HRun=0;HaplotypeScore=0.0000;MQ=47.59;MQ0=0;MQRankSum=0.326;QD=6.75;ReadPosRankSum=1.657;SB=-210.04;TI=NM_000071,NM_001178009,NM_001178008;GI=CBS,CBS,CBS;FC=Synonymous_A360A,Synonymous_A360A,Synonymous_A360A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,17:39:99:293,0,465:0.436:99 chr21 44485350 rs234706 G A 575.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.195;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6544;MQ=45.68;MQ0=0;MQRankSum=-1.955;QD=9.44;ReadPosRankSum=-2.229;SB=-446.27;TI=NM_000071,NM_001178009,NM_001178008;GI=CBS,CBS,CBS;FC=Synonymous_Y233Y,Synonymous_Y233Y,Synonymous_Y233Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,30:61:99:606,0,652:0.492:99 chr21 47410331 . G A 328.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.178;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=45.93;MQ0=0;MQRankSum=1.324;QD=10.59;ReadPosRankSum=1.878;SB=-260.49;TI=NM_001848;GI=COL6A1;FC=Missense_V333M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,16:31:99:358,0,325:0.516:99 chr21 47410931 rs1980982 T C 919.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.768;DP=91;Dels=0.00;FS=0.793;HRun=0;HaplotypeScore=3.9087;MQ=46.93;MQ0=0;MQRankSum=0.226;QD=10.11;ReadPosRankSum=0.579;SB=-681.57;TI=NM_001848;GI=COL6A1;FC=Synonymous_G365G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,46:91:99:950,0,839:0.517:99 chr21 47423389 rs1053312 G A 629.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.416;DP=93;Dels=0.00;FS=2.859;HRun=0;HaplotypeScore=2.6274;MQ=45.90;MQ0=0;MQRankSum=-2.042;QD=6.77;ReadPosRankSum=0.210;SB=-532.76;TI=NM_001848;GI=COL6A1;FC=Missense_R850H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,35:93:99:660,0,1300:0.376:99 chr21 47423507 rs1053315 G A 229.04 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.619;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=48.05;MQ0=0;MQRankSum=-0.454;QD=12.05;ReadPosRankSum=-0.619;SB=-167.71;TI=NM_001848;GI=COL6A1;FC=Synonymous_A889A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,11:19:99:259,0,209:0.579:99 chr21 47423636 rs1053320 C T 534.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.033;DP=47;Dels=0.00;FS=6.349;HRun=0;HaplotypeScore=4.7205;MQ=51.27;MQ0=0;MQRankSum=-1.030;QD=11.38;ReadPosRankSum=-0.683;SB=-441.44;TI=NM_001848;GI=COL6A1;FC=Synonymous_S932S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,28:47:99:565,0,479:0.596:99 chr21 47538960 rs2839110 G A 1438.01 PASS AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=40.89;MQ0=0;QD=23.19;SB=-1109.22;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Missense_S399N,Missense_S399N,Missense_S399N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,62:62:99:1471,102,0:1.000:99 chr21 47545768 rs1042917 G A 2102.21 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.918;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=48.58;MQ0=0;MQRankSum=1.274;QD=23.89;ReadPosRankSum=0.602;SB=-1378.89;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Missense_R680H,Missense_R680H,Missense_R680H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,86:88:99:2135,112,0:0.977:99 chr21 47545823 rs13052956 G A 2310.28 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.241;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=49.21;MQ0=0;MQRankSum=1.307;QD=23.82;ReadPosRankSum=-1.257;SB=-1763.73;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Synonymous_A698A,Synonymous_A698A,Synonymous_A698A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,95:97:99:2343,127,0:0.979:99 chr21 47545826 rs13046639 C T 2289.31 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.571;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6817;MQ=49.67;MQ0=0;MQRankSum=0.724;QD=23.60;ReadPosRankSum=-1.104;SB=-1761.93;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Synonymous_G699G,Synonymous_G699G,Synonymous_G699G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,95:97:99:2322,124,0:0.979:99 chr21 47545913 rs2839114 G A 1450.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.040;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9733;MQ=44.27;MQ0=0;MQRankSum=1.047;QD=14.36;ReadPosRankSum=-0.892;SB=-1079.49;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Synonymous_V728V,Synonymous_V728V,Synonymous_V728V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,64:101:99:1481,0,808:0.634:99 chr22 18571008 rs464385 G A 460.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.514;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2532;MQ=41.15;MQ0=0;MQRankSum=-0.560;QD=6.22;ReadPosRankSum=-1.669;SB=-364.41;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,25:74:99:490,0,1036:0.338:99 chr22 18571670 rs362057 A G 800.21 PASS AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=52.03;MQ0=0;QD=26.67;SB=-402.63;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,30:30:60.19:833,60,0:1.000:60 chr22 18571828 rs361807 T C 1903.78 PASS AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6812;MQ=50.43;MQ0=0;QD=25.05;SB=-1203.06;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,74:76:99:1937,141,0:1.000:99 chr22 18572106 rs456551 T A 144.46 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.298;DP=35;Dels=0.00;FS=8.258;HRun=0;HaplotypeScore=6.3044;MQ=54.01;MQ0=0;MQRankSum=-0.298;QD=4.13;ReadPosRankSum=0.383;SB=-0.01;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,7:35:99:174,0,796:0.206:99 chr22 18572371 rs5844350 C CTTGG 2857.45 PASS AC=2;AF=1.00;AN=2;DP=45;FS=0.000;HRun=0;HaplotypeScore=85.3600;MQ=42.79;MQ0=0;QD=63.50;SB=-1345.07;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,40:45:99:2899,132,0:0.909:99 chr22 18572499 rs10629935 T TCTCA 6064.05 PASS AC=2;AF=1.00;AN=2;DP=94;FS=0.000;HRun=0;HaplotypeScore=146.1107;MQ=44.81;MQ0=0;QD=64.51;SB=-3002.73;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:32,62:94:99:6064,277,0:0.660:99 chr22 18572503 . T A 480.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-5.556;DP=91;Dels=0.01;FS=9.653;HRun=0;HaplotypeScore=15.5038;MQ=44.90;MQ0=0;MQRankSum=-1.093;QD=5.28;ReadPosRankSum=-7.474;SB=-228.04;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,27:90:99:510,0,1740:0.303:99 chr22 18572504 . G C 486.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-5.452;DP=91;Dels=0.01;FS=7.694;HRun=0;HaplotypeScore=13.6101;MQ=44.90;MQ0=0;MQRankSum=-0.414;QD=5.35;ReadPosRankSum=-7.569;SB=-286.63;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,28:90:99:517,0,1732:0.311:99 chr22 18572892 rs361946 A G 1611.89 PASS AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=55.51;MQ0=0;QD=28.28;SB=-904.50;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:57:99:1645,120,0:1.000:99 chr22 18573122 rs362209 T C 1211.24 PASS AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=49.14;MQ0=0;QD=24.22;SB=-858.62;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,50:50:87.29:1244,87,0:1.000:87 chr22 21213380 rs1061063 C T 2295.61 PASS AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5897;MQ=45.25;MQ0=0;QD=23.19;SB=-1729.93;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,99:99:99:2329,163,0:1.000:99 chr22 21213416 rs1061064 A G 4392.46 PASS AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.9440;MQ=46.74;MQ0=0;QD=24.68;SB=-3239.17;TI=NM_004782;GI=SNAP29;FC=Synonymous_K6K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,178:178:99:4392,304,0:1.000:99 chr22 21244940 rs165739 A G 11.01 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=11.01;SB=-0.01;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chr22 33669492 rs16992034 G C 258.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=20;Dels=0.00;FS=2.282;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-0.152;QD=12.91;ReadPosRankSum=-0.532;SB=-28.62;TI=NM_133642,NM_004737;GI=LARGE,LARGE;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,9:20:99:288,0,307:0.450:99 chr22 33670584 rs17722172 G A 509.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.528;DP=53;Dels=0.00;FS=1.065;HRun=0;HaplotypeScore=3.7602;MQ=48.10;MQ0=0;MQRankSum=1.563;QD=9.62;ReadPosRankSum=1.671;SB=-318.66;TI=NM_133642,NM_004737;GI=LARGE,LARGE;FC=Synonymous_N700N,Synonymous_N700N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,24:53:99:540,0,632:0.453:99 chr22 34022284 rs86487 G A 1883.88 PASS AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.06;MQ0=0;QD=23.55;SB=-1472.33;TI=NM_133642,NM_004737;GI=LARGE,LARGE;FC=Synonymous_A145A,Synonymous_A145A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,80:80:99:1917,132,0:1.000:99 chr22 34316077 rs3210587 G A 743.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.327;DP=58;Dels=0.00;FS=1.053;HRun=0;HaplotypeScore=1.7882;MQ=49.27;MQ0=0;MQRankSum=-1.278;QD=12.82;ReadPosRankSum=1.990;SB=-517.36;TI=NM_133642,NM_004737;GI=LARGE,LARGE;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,37:58:99:774,0,445:0.638:99 chr22 38507980 . AGGCGG A 1585.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.101;DP=70;FS=0.000;HRun=0;HaplotypeScore=46.4190;MQ=45.87;MQ0=0;MQRankSum=-0.350;QD=22.65;ReadPosRankSum=2.551;SB=-764.66;TI=NM_003560,NM_001004426,NM_001199562;GI=PLA2G6,PLA2G6,PLA2G6;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,23:70:99:1624,0,3579:0.329:99 chr22 50298118 rs62233155 C T 1442.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.899;DP=123;Dels=0.00;FS=3.301;HRun=0;HaplotypeScore=6.3561;MQ=43.90;MQ0=0;MQRankSum=0.591;QD=11.72;ReadPosRankSum=0.976;SB=-931.67;TI=NM_024105;GI=ALG12;FC=Synonymous_A343A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,66:123:99:1472,0,1139:0.537:99 chr22 50498248 rs41283489 C A 402.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.411;DP=27;Dels=0.00;FS=6.903;HRun=1;HaplotypeScore=1.8835;MQ=50.88;MQ0=0;MQRankSum=0.028;QD=14.90;ReadPosRankSum=0.194;SB=-322.79;TI=NM_139202,NM_015166;GI=MLC1,MLC1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,20:27:99:432,0,184:0.741:99 chr22 50498389 rs35730155 C A 524.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.098;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=46.85;MQ0=0;MQRankSum=2.180;QD=7.00;ReadPosRankSum=1.087;SB=-382.44;TI=NM_139202,NM_015166;GI=MLC1,MLC1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,27:75:99:555,0,1040:0.360:99 chr22 50498885 rs9628320 G A 826.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.452;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=47.38;MQ0=0;MQRankSum=-3.287;QD=11.32;ReadPosRankSum=-1.367;SB=-683.81;TI=NM_139202,NM_015166;GI=MLC1,MLC1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,42:73:99:857,0,625:0.575:99 chr22 50499239 rs4838880 C T 105.35 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.143;DP=11;Dels=0.00;FS=2.463;HRun=0;HaplotypeScore=0.0000;MQ=51.89;MQ0=0;MQRankSum=-1.408;QD=9.58;ReadPosRankSum=0.387;SB=-63.40;TI=NM_139202,NM_015166;GI=MLC1,MLC1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,6:11:99:135,0,109:0.545:99 chr22 50499967 rs2072873 T C 34.35 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.546;QD=3.44;ReadPosRankSum=0.296;SB=-28.77;TI=NM_139202,NM_015166;GI=MLC1,MLC1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,3:10:64.35:64,0,190:0.300:34 chr22 50524250 rs11447701 G GC 1838.61 PASS AC=2;AF=1.00;AN=2;DP=47;FS=0.000;HRun=2;HaplotypeScore=72.7941;MQ=60.66;MQ0=0;QD=39.12;SB=-763.22;TI=NM_015166;GI=MLC1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,47:47:99:1881,141,0:1.000:99 chr22 50524285 rs4838883 C T 254.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.566;DP=41;Dels=0.02;FS=0.000;HRun=0;HaplotypeScore=10.7398;MQ=59.78;MQ0=0;MQRankSum=0.483;QD=6.21;ReadPosRankSum=0.124;SB=-226.22;TI=NM_015166;GI=MLC1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,16:40:99:285,0,569:0.400:99 chr22 50962208 rs12148 T G 338.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=44.53;MQ0=0;MQRankSum=-1.509;QD=8.47;ReadPosRankSum=0.911;SB=-266.52;TI=NM_152299,NM_001185011,NM_001169111,NM_005138,NM_001169110,NM_001169109;GI=NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2;FC=Silent,Silent,Synonymous_A211A,Synonymous_A211A,Synonymous_A211A,Synonymous_A211A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,18:40:99:369,0,496:0.450:99 chr22 50962259 rs131811 G A 828.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.923;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2823;MQ=42.61;MQ0=0;MQRankSum=-0.348;QD=8.72;ReadPosRankSum=0.946;SB=-662.13;TI=NM_152299,NM_001185011,NM_001169111,NM_005138,NM_001169110,NM_001169109;GI=NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2;FC=Silent,Silent,Synonymous_S194S,Synonymous_S194S,Synonymous_S194S,Synonymous_S194S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,43:95:99:859,0,1049:0.453:99 chr22 50962782 rs140523 C G 421.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.011;DP=45;Dels=0.00;FS=1.116;HRun=1;HaplotypeScore=1.7882;MQ=45.42;MQ0=0;MQRankSum=-2.146;QD=9.36;ReadPosRankSum=0.034;SB=-363.83;TI=NM_152299,NM_001185011,NM_001169111,NM_005138,NM_001169110,NM_001169109;GI=NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2;FC=Silent,Silent,Missense_R20P,Missense_R20P,Missense_R20P,Missense_R20P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,22:45:99:451,0,456:0.489:99 chr22 50963965 rs131806 C G 1223.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.221;DP=122;Dels=0.00;FS=0.688;HRun=1;HaplotypeScore=9.9884;MQ=47.11;MQ0=0;MQRankSum=-0.957;QD=10.03;ReadPosRankSum=-1.699;SB=-854.17;TI=NM_001169111,NM_005138,NM_001169110,NM_001169109;GI=SCO2,SCO2,SCO2,SCO2;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,58:122:99:1253,0,1352:0.479:99 chr22 50964862 rs131804 G A 352.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.367;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.96;MQ0=0;MQRankSum=-0.100;QD=14.69;ReadPosRankSum=0.833;SB=-272.41;TI=NM_001169109,NM_001113756,NM_001953,NM_001113755;GI=SCO2,TYMP,TYMP,TYMP;FC=Silent,Synonymous_A324A,Synonymous_A324A,Synonymous_A324A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,18:24:94.83:383,0,95:0.750:94 chr22 51061827 rs73172277 C T 670.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.065;DP=62;Dels=0.00;FS=0.975;HRun=0;HaplotypeScore=0.0000;MQ=48.75;MQ0=0;MQRankSum=-0.738;QD=10.82;ReadPosRankSum=-0.199;SB=-553.65;TI=NM_001085428,NM_001085427,NM_000487,NM_001085426,NM_001085425;GI=ARSA,ARSA,ARSA,ARSA,ARSA;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,35:62:99:701,0,526:0.565:99 chr22 51062051 rs6009939 G T 108.76 LowGQ;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=6;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=48.95;MQ0=0;MQRankSum=-0.736;QD=18.13;ReadPosRankSum=-0.736;SB=-40.01;TI=NM_001085428,NM_001085427,NM_000487,NM_001085426,NM_001085425;GI=ARSA,ARSA,ARSA,ARSA,ARSA;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,5:6:24.96:139,0,25:0.833:24 chr22 51062222 rs131717 G C 190.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.441;DP=28;Dels=0.00;FS=1.536;HRun=0;HaplotypeScore=0.0000;MQ=49.04;MQ0=0;MQRankSum=-1.045;QD=6.80;ReadPosRankSum=-2.066;SB=-188.75;TI=NM_001085428,NM_001085427,NM_000487,NM_001085426,NM_001085425;GI=ARSA,ARSA,ARSA,ARSA,ARSA;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,12:28:99:220,0,380:0.429:99 chr22 51062654 rs5770805 T C 125.67 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51.77;MQ0=0;QD=20.95;SB=-68.24;TI=NM_001085428,NM_001085427,NM_000487,NM_001085426,NM_001085425;GI=ARSA,ARSA,ARSA,ARSA,ARSA;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,6:6:12.04:158,12,0:1.000:12 chr22 51062718 rs7288050 C T 216.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.517;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8285;MQ=48.35;MQ0=0;MQRankSum=0.643;QD=8.34;ReadPosRankSum=1.774;SB=-195.41;TI=NM_001085428,NM_001085427,NM_000487,NM_001085426,NM_001085425;GI=ARSA,ARSA,ARSA,ARSA,ARSA;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,12:26:99:247,0,318:0.462:99 chr22 51062891 rs7288338 C G 1232.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.961;DP=125;Dels=0.00;FS=1.430;HRun=0;HaplotypeScore=3.6756;MQ=43.54;MQ0=0;MQRankSum=-2.373;QD=9.86;ReadPosRankSum=1.795;SB=-930.32;TI=NM_001085428,NM_001085427,NM_000487,NM_001085426,NM_001085425;GI=ARSA,ARSA,ARSA,ARSA,ARSA;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,61:125:99:1262,0,1295:0.488:99 chr22 51062938 rs5770953 C T 125.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DP=25;Dels=0.00;FS=4.129;HRun=0;HaplotypeScore=1.7882;MQ=50.96;MQ0=0;MQRankSum=0.817;QD=5.02;ReadPosRankSum=-0.272;SB=-45.48;TI=NM_001085428,NM_001085427,NM_000487,NM_001085426,NM_001085425;GI=ARSA,ARSA,ARSA,ARSA,ARSA;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,7:25:99:155,0,449:0.280:99 chr22 51064039 rs743616 G C 1464.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.687;DP=141;Dels=0.00;FS=1.326;HRun=0;HaplotypeScore=9.9426;MQ=44.07;MQ0=0;MQRankSum=-1.739;QD=10.38;ReadPosRankSum=-1.595;SB=-1144.53;TI=NM_001085428,NM_001085427,NM_000487,NM_001085426,NM_001085425;GI=ARSA,ARSA,ARSA,ARSA,ARSA;FC=Missense_T307S,Missense_T393S,Missense_T393S,Missense_T393S,Missense_T393S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,73:141:99:1494,0,1415:0.518:99 chrX 5808861 rs1882260 G A 576.88 PASS AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.48;MQ0=0;QD=23.08;SB=-474.58;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,25:25:42.14:610,42,0:1.000:42 chrX 5808871 rs16983882 A C 495.99 PASS AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.82;MQ0=0;QD=22.55;SB=-402.63;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,22:22:36.12:529,36,0:1.000:36 chrX 5810756 rs3810688 C T 1806.20 PASS AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48.35;MQ0=0;QD=23.77;SB=-1375.36;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,76:76:99:1839,126,0:1.000:99 chrX 6145855 rs2290488 C G 4356.97 PASS AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.3070;MQ=50.28;MQ0=0;QD=24.76;SB=-2974.29;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,176:176:99:4357,304,0:1.000:99 chrX 15844898 rs35522320 T TA 119.89 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.414;DP=27;FS=4.384;HRun=16;HaplotypeScore=159.9600;MQ=42.88;MQ0=0;MQRankSum=-1.113;QD=4.44;ReadPosRankSum=0.223;SB=-85.70;TI=NM_003916;GI=AP1S2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,5:27:99:157,0,110:0.263:99 chrX 15845009 rs35656473 CT C 158.76 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.317;DP=28;FS=0.000;HRun=15;HaplotypeScore=177.1212;MQ=44.68;MQ0=0;MQRankSum=0.366;QD=5.67;ReadPosRankSum=-0.268;SB=-65.69;TI=NM_003916;GI=AP1S2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,9:28:99:198,0,169:0.429:99 chrX 17753436 rs5909331 A T 1286.86 PASS AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=48.18;MQ0=0;QD=25.23;SB=-909.76;TI=NM_198270,NM_001136024;GI=NHS,NHS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,51:51:93.31:1320,93,0:1.000:93 chrX 20170830 rs56377002 A C 2117.61 PASS AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.99;MQ0=0;QD=25.21;SB=-1281.59;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,84:84:99:2151,151,0:1.000:99 chrX 20171734 . CT C 122.65 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.209;DP=28;FS=3.556;HRun=14;HaplotypeScore=92.1921;MQ=49.08;MQ0=0;MQRankSum=-0.812;QD=4.38;ReadPosRankSum=1.927;SB=-72.43;TI=NM_004586;GI=RPS6KA3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,8:28:99:162,0,240:0.421:99 chrX 21861434 rs3213451 A G 3306.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.675;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=50.31;MQ0=0;MQRankSum=0.000;QD=27.10;ReadPosRankSum=-1.335;SB=-2130.84;TI=NM_015884;GI=MBTPS2;FC=Synonymous_Q74Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,121:122:99:3307,238,0:0.992:99 chrX 21901903 rs5951476 G A 705.39 PASS AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52.03;MQ0=0;QD=23.51;SB=-518.27;TI=NM_015884;GI=MBTPS2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,30:30:51.17:738,51,0:1.000:51 chrX 21958768 rs35504508 A AG 253.79 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=7;FS=0.000;HRun=2;HaplotypeScore=15.9322;MQ=57.28;MQ0=0;QD=36.26;SB=-125.61;TI=NM_004595;GI=SMS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:21.07:296,21,0:1.000:21 chrX 21958851 rs34507903 A G 314.97 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=41.08;MQ0=0;QD=22.50;SB=-235.29;TI=NM_004595;GI=SMS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,14:14:24.08:348,24,0:1.000:24 chrX 22012912 . TA T 4925.88 R8 AC=2;AF=1.00;AN=2;DP=157;FS=0.000;HRun=9;HaplotypeScore=122.5368;MQ=54.38;MQ0=0;QD=31.38;SB=-2265.82;TI=NM_004595;GI=SMS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,151:157:99:4926,467,0:0.993:99 chrX 25022103 . CTT C,CT 373.00 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=0.052;DP=24;FS=0.000;HaplotypeScore=46.0240;MQ=56.82;MQ0=0;MQRankSum=0.992;QD=15.54;ReadPosRankSum=0.574;SB=-176.75;TI=NM_139058;GI=ARX;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:4,6,0:24:99:451,211,242,142,0,117:0.600:99 chrX 28605876 rs5901895 GT G 1997.35 R8 AC=2;AF=1.00;AN=2;BaseQRankSum=-2.074;DP=86;FS=3.801;HRun=11;HaplotypeScore=108.9532;MQ=49.79;MQ0=0;MQRankSum=0.828;QD=23.22;ReadPosRankSum=-0.205;SB=-896.53;TI=NM_014271;GI=IL1RAPL1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:12,73:86:84:2039,84,0:0.859:84 chrX 31139467 . C CA 1870.95 PASS AC=2;AF=1.00;AN=2;DP=59;FS=0.000;HRun=7;HaplotypeScore=31.7139;MQ=59.68;MQ0=0;QD=31.71;SB=-907.88;TI=NM_004018,NM_004017,NM_004015,NM_004016,NM_004014,NM_004020,NM_004023,NM_004022,NM_004013,NM_004021,NM_004012,NM_004011,NM_004007,NM_004010,NM_004009,NM_004006,NM_000109;GI=DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,59:59:99:1913,177,0:1.000:99 chrX 31196549 . G GT 78.38 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.184;DP=81;FS=0.000;HRun=15;HaplotypeScore=319.9549;MQ=50.47;MQ0=0;MQRankSum=2.459;QD=0.97;ReadPosRankSum=-0.770;SB=-18.00;TI=NM_004018,NM_004017,NM_004015,NM_004016,NM_004014,NM_004020,NM_004023,NM_004022,NM_004013,NM_004021,NM_004012,NM_004011,NM_004007,NM_004010,NM_004009,NM_004006,NM_000109,NM_004019;GI=DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,14:81:99:117,0,847:0.222:78 chrX 31496350 rs1800280 C T 1532.17 PASS AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7873;MQ=50.02;MQ0=0;QD=23.57;SB=-1269.64;TI=NM_004014,NM_004020,NM_004023,NM_004022,NM_004013,NM_004021,NM_004012,NM_004011,NM_004007,NM_004010,NM_004009,NM_004006,NM_000109;GI=DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD;FC=Missense_R208Q,Missense_R477Q,Missense_R477Q,Missense_R477Q,Missense_R477Q,Missense_R477Q,Missense_R1593Q,Missense_R1596Q,Missense_R2814Q,Missense_R2814Q,Missense_R2933Q,Missense_R2937Q,Missense_R2929Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,65:65:99:1565,108,0:1.000:99 chrX 32503194 rs228406 T C 1716.96 PASS AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=51.04;MQ0=0;QD=26.41;SB=-1087.80;TI=NM_004007,NM_004010,NM_004009,NM_004006,NM_000109;GI=DMD,DMD,DMD,DMD,DMD;FC=Missense_D759G,Missense_D759G,Missense_D878G,Missense_D882G,Missense_D874G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,65:65:99:1750,123,0:1.000:99 chrX 32591931 rs5927083 T C 1810.88 PASS AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=51.78;MQ0=0;QD=25.51;SB=-1115.47;TI=NM_004007,NM_004010,NM_004009,NM_004006,NM_000109;GI=DMD,DMD,DMD,DMD,DMD;FC=Synonymous_R422R,Synonymous_R422R,Synonymous_R541R,Synonymous_R545R,Synonymous_R537R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,71:71:99:1844,129,0:1.000:99 chrX 39933339 rs5917933 A G 614.30 PASS AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.15;MQ0=0;QD=22.75;SB=-465.29;TI=NM_017745,NM_001123385,NM_001123383,NM_001123384;GI=BCOR,BCOR,BCOR,BCOR;FC=Synonymous_D420D,Synonymous_D420D,Synonymous_D420D,Synonymous_D420D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,27:27:45.15:647,45,0:1.000:45 chrX 41374368 . T C 176.03 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.43;MQ0=0;QD=25.15;SB=-118.99;TI=NM_001126055,NM_001126054,NM_003688;GI=CASK,CASK,CASK;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:15.05:209,15,0:1.000:15 chrX 46358811 rs12687128 T C 1222.45 PASS AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8907;MQ=51.95;MQ0=0;QD=23.51;SB=-858.56;TI=NM_001039891,NM_001190417,NM_001146291;GI=ZNF674,ZNF674,ZNF674;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,52:52:87.29:1255,87,0:1.000:87 chrX 47062534 rs2070169 G A 1110.87 PASS AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6543;MQ=48.93;MQ0=0;QD=25.83;SB=-824.65;TI=NM_153280,NM_003334;GI=UBA1,UBA1;FC=Missense_R447H,Missense_R447H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,43:43:81.27:1144,81,0:1.000:81 chrX 47327111 rs5905607 T C 231.63 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.81;MQ0=0;QD=21.06;SB=-199.11;TI=NM_007130,NM_153380;GI=ZNF41,ZNF41;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,11:11:18.06:264,18,0:1.000:18 chrX 49107510 . G A 14.92 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=7.46;SB=-39.32;TI=NM_001114377,NM_014009;GI=FOXP3,FOXP3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chrX 50334694 . TTTTC T 2669.64 R8 AC=2;AF=1.00;AN=2;DP=58;FS=0.000;HRun=0;HaplotypeScore=35.1674;MQ=51.87;MQ0=0;QD=46.03;SB=-597.98;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:13,45:58:99:2712,138,0:0.776:99 chrX 53220836 rs1886889 G T 1133.05 PASS AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7871;MQ=43.64;MQ0=0;QD=23.61;SB=-872.93;TI=NM_001146702,NM_004187;GI=KDM5C,KDM5C;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,48:48:81.27:1166,81,0:1.000:81 chrX 53221259 rs75167298 T TG 424.84 LowDP AC=2;AF=1.00;AN=2;DP=11;FS=0.000;HRun=1;HaplotypeScore=12.9955;MQ=60.00;MQ0=0;QD=38.62;SB=-127.30;TI=NM_001146702,NM_004187;GI=KDM5C,KDM5C;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,11:11:33.11:467,33,0:1.000:33 chrX 53222043 . A AC 698.30 PASS AC=2;AF=1.00;AN=2;DP=22;FS=0.000;HRun=6;HaplotypeScore=26.8554;MQ=53.41;MQ0=0;QD=31.74;SB=-304.60;TI=NM_001146702,NM_004187;GI=KDM5C,KDM5C;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,21:22:66.18:740,66,0:0.955:66 chrX 53563589 rs426298 A G 183.88 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=55.72;MQ0=0;QD=20.43;SB=-137.48;TI=NM_031407;GI=HUWE1;FC=Synonymous_G4059G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,9:9:15.05:217,15,0:1.000:15 chrX 53713640 rs2333864 G C 1003.43 PASS AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=44.04;MQ0=0;QD=23.34;SB=-766.85;TI=NM_031407;GI=HUWE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,43:43:72.24:1036,72,0:1.000:72 chrX 54471920 . T TA 11.72 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.129;DP=27;FS=0.000;HRun=13;HaplotypeScore=54.2341;MQ=49.87;MQ0=0;MQRankSum=0.729;QD=0.43;ReadPosRankSum=-1.487;SB=-15.43;TI=NM_004463;GI=FGD1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,5:27:50.45:50,0,420:0.208:11 chrX 66764191 . G C 22.86 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.765;DP=54;Dels=0.00;FS=27.855;HRun=4;HaplotypeScore=43.6608;MQ=45.72;MQ0=0;MQRankSum=-2.310;QD=0.42;ReadPosRankSum=-2.475;SB=-0.01;TI=NM_000044;GI=AR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,9:54:52.83:53,0,1161:0.170:22 chrX 66764194 . T C 119.91 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.870;DP=52;Dels=0.00;FS=60.263;HRun=6;HaplotypeScore=29.8047;MQ=45.08;MQ0=0;MQRankSum=-3.210;QD=2.31;ReadPosRankSum=-1.178;SB=-0.01;TI=NM_000044;GI=AR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,13:52:99:150,0,985:0.255:99 chrX 66764205 . T C 49.35 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.450;DP=40;Dels=0.00;FS=44.199;HRun=3;HaplotypeScore=39.0439;MQ=43.39;MQ0=0;MQRankSum=-1.550;QD=1.23;ReadPosRankSum=-1.883;SB=-0.01;TI=NM_000044;GI=AR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,9:40:79.34:79,0,705:0.231:49 chrX 66764206 . G C 37.02 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.759;DP=40;Dels=0.03;FS=32.750;HRun=2;HaplotypeScore=39.9106;MQ=43.39;MQ0=0;MQRankSum=-1.148;QD=0.93;ReadPosRankSum=-1.032;SB=-0.01;TI=NM_000044;GI=AR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,6:39:67.01:67,0,861:0.154:37 chrX 66944119 rs63672661 CA C 861.13 R8 AC=2;AF=1.00;AN=2;DP=35;FS=0.000;HRun=11;HaplotypeScore=85.3036;MQ=53.62;MQ0=0;QD=24.60;SB=-429.10;TI=NM_000044,NM_001011645;GI=AR,AR;FC=Splicing,Splicing;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,28:35:99:903,101,0:0.903:99 chrX 68061978 . TA T 106.11 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.291;DP=71;FS=2.407;HRun=12;HaplotypeScore=85.1866;MQ=54.09;MQ0=0;MQRankSum=0.383;QD=1.49;ReadPosRankSum=0.515;SB=-22.63;TI=NM_004429;GI=EFNB1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,12:71:99:145,0,1225:0.188:99 chrX 69080840 rs1203003 G A 2667.64 PASS AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7879;MQ=52.50;MQ0=0;QD=24.93;SB=-1952.46;TI=NM_001005613,NM_001005610,NM_001005609,NM_001399,NM_001005612;GI=EDA,EDA,EDA,EDA,EDA;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,107:107:99:2701,190,0:1.000:99 chrX 69257972 rs3764746 G C 438.84 LowDP AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.58;MQ0=0;QD=23.10;SB=-274.15;TI=NM_001005609,NM_001399,NM_001005612;GI=EDA,EDA,EDA;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,19:19:33.11:472,33,0:1.000:33 chrX 69258515 rs3795170 T G 728.93 PASS AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7714;MQ=49.87;MQ0=0;QD=25.14;SB=-476.07;TI=NM_001005609,NM_001399,NM_001005612;GI=EDA,EDA,EDA;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,29:29:54.18:762,54,0:1.000:54 chrX 69723447 . G GT 48.16 R8;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.992;DP=18;FS=0.000;HRun=13;HaplotypeScore=41.0513;MQ=44.26;MQ0=0;MQRankSum=1.177;QD=2.68;ReadPosRankSum=-0.181;SB=-34.60;TI=NM_021120,NM_020730,NM_001166278;GI=DLG3,DLG3,DLG3;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,5:18:87.19:87,0,225:0.313:48 chrX 70349947 rs5030619 A C 1356.81 PASS AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9832;MQ=46.81;MQ0=0;QD=23.80;SB=-1100.36;TI=NM_005120;GI=MED12;FC=Synonymous_P1310P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,57:57:96.32:1390,96,0:1.000:96 chrX 76762375 . C T 11.64 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.675;DP=40;Dels=0.05;FS=45.259;HRun=26;HaplotypeScore=37.0779;MQ=35.74;MQ0=0;MQRankSum=0.646;QD=0.29;ReadPosRankSum=-2.675;SB=0.06;TI=NM_000489,NM_138270;GI=ATRX,ATRX;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,8:38:41.32:41,0,842:0.216:11 chrX 76762375 . CT C 38.97 LowVariantFreq;R8;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.220;DP=40;FS=3.442;HRun=26;HaplotypeScore=269.8927;MQ=35.74;MQ0=0;MQRankSum=-0.415;QD=0.97;ReadPosRankSum=0.659;SB=-4.96;TI=NM_000489,NM_138270;GI=ATRX,ATRX;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,6:40:78:78,0,144:0.171:38 chrX 76763679 . TA T 276.44 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.302;DP=61;FS=0.000;HRun=13;HaplotypeScore=113.2621;MQ=53.23;MQ0=0;MQRankSum=0.108;QD=4.53;ReadPosRankSum=2.216;SB=-127.42;TI=NM_000489,NM_138270;GI=ATRX,ATRX;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,17:61:99:315,0,745:0.321:99 chrX 77298857 rs4826245 G A 2626.50 PASS AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=52.72;MQ0=0;QD=24.78;SB=-2009.98;TI=NM_000052;GI=ATP7A;FC=Missense_E1350K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,106:106:99:2660,184,0:1.000:99 chrX 77302385 . CA C 285.83 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.276;DP=57;FS=1.051;HRun=11;HaplotypeScore=192.1275;MQ=51.35;MQ0=0;MQRankSum=1.203;QD=5.01;ReadPosRankSum=1.060;SB=-135.03;TI=NM_000052;GI=ATP7A;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,15:57:99:325,0,684:0.319:99 chrX 79925246 rs2063579 A G 1445.76 PASS AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4523;MQ=57.63;MQ0=0;QD=28.92;SB=-882.58;TI=NM_153252;GI=BRWD3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,50:50:99:1479,111,0:1.000:99 chrX 79943569 rs3122407 T C 4107.93 PASS AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=51.27;MQ0=0;QD=26.50;SB=-2614.31;TI=NM_153252;GI=BRWD3;FC=Missense_K1288R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,155:155:99:4108,292,0:1.000:99 chrX 99664057 . C T 11.01 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=11.01;SB=-0.01;TI=NM_020766,NM_001184880,NM_001105243;GI=PCDH19,PCDH19,PCDH19;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chrX 100604757 rs700 T G 2196.69 PASS AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9920;MQ=49.29;MQ0=0;QD=27.46;SB=-1516.73;TI=NM_000061;GI=BTK;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,80:80:99:2230,162,0:1.000:99 chrX 101091164 rs6621220 T C 409.92 LowDP AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.23;MQ0=0;QD=21.57;SB=-354.95;TI=NM_032946,NR_028089;GI=NXF5,NXF5;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,19:19:30.10:443,30,0:1.000:30 chrX 103046526 rs71719797 TG T 3576.03 PASS AC=2;AF=1.00;AN=2;DP=100;FS=0.000;HRun=5;HaplotypeScore=55.6915;MQ=47.09;MQ0=0;QD=35.76;SB=-1422.10;TI=NM_001128834,NM_199478,NM_000533;GI=PLP1,PLP1,PLP1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,93:100:99:3576,280,0:0.949:99 chrX 103047048 . TA T 554.49 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.157;DP=146;FS=6.591;HRun=13;HaplotypeScore=217.1097;MQ=55.55;MQ0=0;MQRankSum=2.144;QD=3.80;ReadPosRankSum=-0.316;SB=-195.98;TI=NM_001128834,NM_199478,NM_000533;GI=PLP1,PLP1,PLP1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,34:146:99:594,0,1668:0.276:99 chrX 110464158 . G A 10.53 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.803;DP=50;Dels=0.00;FS=7.899;HRun=3;HaplotypeScore=19.8540;MQ=45.74;MQ0=0;MQRankSum=-1.591;QD=0.21;ReadPosRankSum=-1.465;SB=-0.01;TI=NM_001128167,NM_001128166,NM_002578,NM_001128168,NM_001128173,NM_001128172;GI=PAK3,PAK3,PAK3,PAK3,PAK3,PAK3;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,9:50:40.12:40,0,798:0.180:10 chrX 110464173 . CAA C,CA 445.26 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-2.433;DP=50;FS=0.000;HaplotypeScore=219.7513;MQ=45.74;MQ0=0;MQRankSum=3.150;QD=8.91;ReadPosRankSum=0.881;SB=-179.53;TI=NM_001128167,NM_001128166,NM_002578,NM_001128168,NM_001128173,NM_001128172;GI=PAK3,PAK3,PAK3,PAK3,PAK3,PAK3;FC=Splicing,Splicing,Splicing,Splicing,Splicing,Splicing;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:23,10,1:50:99:523,165,344,135,0,175:0.324:99 chrX 110543844 . CT C 36.34 R8;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.147;DP=38;FS=0.000;HRun=16;HaplotypeScore=125.4911;MQ=49.22;MQ0=0;MQRankSum=1.804;QD=0.96;ReadPosRankSum=0.552;SB=-7.77;TI=NM_001195553,NM_000555,NM_178151,NM_178152,NM_178153;GI=DCX,DCX,DCX,DCX,DCX;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,6:38:75.37:75,0,359:0.200:36 chrX 115304824 rs5193 G T 3728.83 PASS AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.6818;MQ=56.57;MQ0=0;QD=33.00;SB=-1552.24;TI=NM_000686;GI=AGTR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,113:113:99:3729,274,0:1.000:99 chrX 115304830 rs5194 A G 3718.70 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.407;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7877;MQ=56.29;MQ0=0;MQRankSum=0.503;QD=32.34;ReadPosRankSum=-0.118;SB=-1663.98;TI=NM_000686;GI=AGTR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,113:115:99:3719,271,0:0.983:99 chrX 115305126 rs11091046 A C 1846.04 PASS AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=47.28;MQ0=0;QD=23.37;SB=-1502.54;TI=NM_000686;GI=AGTR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,79:79:99:1879,129,0:1.000:99 chrX 123034511 rs5956583 A C 3338.30 PASS AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8821;MQ=50.23;MQ0=0;QD=24.91;SB=-2297.33;TI=NM_001167;GI=XIAP;FC=Missense_Q423P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,134:134:99:3338,235,0:1.000:99 chrX 123044717 . CA C 103.85 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.075;DP=66;FS=2.174;HRun=16;HaplotypeScore=174.0902;MQ=52.85;MQ0=0;MQRankSum=1.731;QD=1.57;ReadPosRankSum=0.448;SB=-68.69;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,11:65:99:143,0,660:0.200:99 chrX 123045327 . C CA 322.55 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.403;DP=34;FS=0.000;HRun=13;HaplotypeScore=63.7207;MQ=52.86;MQ0=0;MQRankSum=0.045;QD=9.49;ReadPosRankSum=-0.362;SB=-168.99;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,17:34:94.45:362,0,94:0.630:94 chrX 123045641 rs9856 C T 3524.31 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.964;DP=140;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.3964;MQ=55.77;MQ0=0;MQRankSum=2.144;QD=25.17;ReadPosRankSum=0.345;SB=-2138.28;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,137:140:99:3524,211,0:0.979:99 chrX 123046198 . C CA 353.85 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.395;DP=33;FS=6.377;HRun=13;HaplotypeScore=145.1160;MQ=52.73;MQ0=0;MQRankSum=-0.020;QD=10.72;ReadPosRankSum=1.799;SB=-105.98;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,17:33:99:393,0,102:0.654:99 chrX 123046272 rs5958343 A T 664.41 PASS AC=2;AF=1.00;AN=2;DP=30;Dels=0.03;FS=0.000;HRun=2;HaplotypeScore=9.9196;MQ=51.01;MQ0=0;QD=22.15;SB=-417.20;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,29:29:51.16:697,51,0:1.000:51 chrX 123046536 . GTT G,GT 261.53 R8;LowDP AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.240;DP=14;FS=0.000;HaplotypeScore=12.0009;MQ=38.32;MQ0=0;MQRankSum=1.240;QD=18.68;ReadPosRankSum=1.240;SB=-145.24;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:0,6,1:14:99:340,124,121,157,0,128:1.000:99 chrX 123046923 rs6648556 T G 1112.37 PASS AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=48.35;MQ0=0;QD=25.87;SB=-796.80;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,43:43:81.27:1145,81,0:1.000:81 chrX 123047668 . G C 1484.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.885;DP=218;Dels=0.00;FS=4.928;HRun=0;HaplotypeScore=1.7882;MQ=52.07;MQ0=5;MQRankSum=-1.815;QD=6.81;ReadPosRankSum=-0.233;SB=-1351.38;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:128,90:218:99:1515,0,3428:0.413:99 chrX 123047709 rs72610614 G A 1484.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.489;DP=251;Dels=0.00;FS=1.623;HRun=0;HaplotypeScore=7.1527;MQ=51.51;MQ0=5;MQRankSum=-1.996;QD=5.91;ReadPosRankSum=3.428;SB=-1311.93;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:161,90:251:99:1515,0,3920:0.359:99 chrX 123047728 . T C 1408.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.706;DP=239;Dels=0.00;FS=3.138;HRun=0;HaplotypeScore=12.8164;MQ=51.95;MQ0=5;MQRankSum=-1.646;QD=5.89;ReadPosRankSum=1.340;SB=-1152.93;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:155,84:239:99:1439,0,3701:0.351:99 chrX 123047770 . C T 738.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.864;DP=189;Dels=0.00;FS=3.192;HRun=2;HaplotypeScore=1.7882;MQ=54.00;MQ0=2;MQRankSum=-0.647;QD=3.91;ReadPosRankSum=-2.718;SB=-405.36;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:144,45:189:99:769,0,3511:0.238:99 chrX 123047802 . A C 362.08 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.298;DP=163;Dels=0.00;FS=8.541;HRun=0;HaplotypeScore=6.2312;MQ=54.38;MQ0=2;MQRankSum=-0.160;QD=2.22;ReadPosRankSum=-5.702;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:139,24:163:99:392,0,3273:0.147:99 chrX 123480147 rs12164382 C T 802.40 PASS AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.61;MQ0=0;QD=22.93;SB=-632.77;TI=NM_002351,NM_001114937;GI=SH2D1A,SH2D1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,35:35:57.19:835,57,0:1.000:57 chrX 128938958 rs1053486 T C 555.05 PASS AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7333;MQ=51.46;MQ0=0;QD=23.13;SB=-404.90;TI=NM_001008222,NM_016032;GI=ZDHHC9,ZDHHC9;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,24:24:42.14:588,42,0:1.000:42 chrX 128939304 . AT A 102.15 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.701;DP=47;FS=1.154;HRun=13;HaplotypeScore=36.8940;MQ=43.36;MQ0=0;MQRankSum=0.540;QD=2.17;ReadPosRankSum=1.436;SB=-68.97;TI=NM_001008222,NM_016032;GI=ZDHHC9,ZDHHC9;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,9:47:99:141,0,608:0.237:99 chrX 132670054 rs71747737 CA C 44.56 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.456;DP=55;FS=2.413;HRun=13;HaplotypeScore=100.2331;MQ=47.76;MQ0=0;MQRankSum=1.919;QD=0.81;ReadPosRankSum=-2.128;SB=-18.43;TI=NM_004484,NM_001164617,NM_001164619,NM_001164618;GI=GPC3,GPC3,GPC3,GPC3;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,8:55:83.59:84,0,742:0.174:44 chrX 138644917 rs440051 G A 175.81 LowGQ;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.158;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52.81;MQ0=0;MQRankSum=-0.158;QD=15.98;ReadPosRankSum=0.474;SB=-186.66;TI=NM_000133;GI=F9;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,10:11:22.59:206,0,23:0.909:22 chrX 148077008 . T G 12.34 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DP=7;Dels=0.00;FS=3.680;HRun=5;HaplotypeScore=4.6380;MQ=31.49;MQ0=0;MQRankSum=-0.922;QD=1.76;ReadPosRankSum=0.922;SB=-0.01;TI=NM_001169125,NM_002025,NM_001169122,NM_001169124,NM_001169123,NM_001170628;GI=AFF2,AFF2,AFF2,AFF2,AFF2,AFF2;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:42.07:42,0,119:0.286:12 chrX 148077020 rs77735141 C T 260.34 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.01;MQ0=0;QD=28.93;SB=-0.01;TI=NM_001169125,NM_002025,NM_001169122,NM_001169124,NM_001169123,NM_001170628;GI=AFF2,AFF2,AFF2,AFF2,AFF2,AFF2;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,8:9:24.07:293,24,0:1.000:24 chrX 148079235 . ATTACAC A 1065.89 LowDP AC=2;AF=1.00;AN=2;DP=16;FS=0.000;HRun=0;HaplotypeScore=6.2293;MQ=44.34;MQ0=0;QD=66.62;SB=-518.36;TI=NM_001169125,NM_002025,NM_001169122,NM_001169124,NM_001169123,NM_001170628;GI=AFF2,AFF2,AFF2,AFF2,AFF2,AFF2;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,12:16:39.13:1108,39,0:0.750:39 chrX 148079639 rs16994920 A C 1455.42 PASS AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.27;MQ0=0;QD=24.26;SB=-1129.60;TI=NM_001169125,NM_002025,NM_001169122,NM_001169124,NM_001169123,NM_001170628;GI=AFF2,AFF2,AFF2,AFF2,AFF2,AFF2;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,60:60:99:1488,105,0:1.000:99 chrX 148079740 rs58901446 A C 721.79 PASS AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.48;MQ0=0;QD=26.73;SB=-395.21;TI=NM_001169125,NM_002025,NM_001169122,NM_001169124,NM_001169123,NM_001170628;GI=AFF2,AFF2,AFF2,AFF2,AFF2,AFF2;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,27:27:54.18:755,54,0:1.000:54 chrX 148079877 rs16994922 T C 2665.50 PASS AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8768;MQ=52.26;MQ0=0;QD=24.01;SB=-2125.97;TI=NM_001169125,NM_002025,NM_001169122,NM_001169124,NM_001169123,NM_001170628;GI=AFF2,AFF2,AFF2,AFF2,AFF2,AFF2;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,111:111:99:2699,187,0:1.000:99 chrX 148081140 . A G 11.01 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=5.51;SB=-0.01;TI=NM_001169125,NM_002025,NM_001169122,NM_001169124,NM_001169123,NM_001170628;GI=AFF2,AFF2,AFF2,AFF2,AFF2,AFF2;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:41,3,0:1.000:3 chrX 148081451 . A G 706.19 PASS AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.67;MQ0=0;QD=24.35;SB=-478.46;TI=NM_001169125,NM_002025,NM_001169122,NM_001169124,NM_001169123,NM_001170628;GI=AFF2,AFF2,AFF2,AFF2,AFF2,AFF2;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,29:29:51.17:739,51,0:1.000:51 chrX 152954025 rs384573 A G 102.28 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=17.05;SB=-118.59;TI=NM_005629,NM_001142805;GI=SLC6A8,SLC6A8;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,6:6:9.03:134,9,0:1.000:9 chrX 153006141 rs79383557 T A 10.80 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.580;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=34.58;MQ0=8;MQRankSum=-3.174;QD=0.31;ReadPosRankSum=1.945;SB=-5.27;TI=NM_000033;GI=ABCD1;FC=Missense_V583E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,12:35:40.41:40,0,524:0.343:10 chrX 153009670 . G T 64.13 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=1.259;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3661;MQ=45.27;MQ0=0;MQRankSum=-1.978;QD=1.31;ReadPosRankSum=-2.697;SB=-69.49;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,8:49:94.12:94,0,938:0.167:64 chrX 153009719 rs67211405 G A 179.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.150;DP=51;Dels=0.00;FS=2.974;HRun=1;HaplotypeScore=4.5148;MQ=46.80;MQ0=0;MQRankSum=-3.273;QD=3.52;ReadPosRankSum=-0.973;SB=-172.84;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,13:51:99:209,0,982:0.260:99 chrX 153010059 rs72616452 G T 459.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.305;DP=61;Dels=0.00;FS=5.319;HRun=0;HaplotypeScore=2.9943;MQ=45.90;MQ0=0;MQRankSum=-4.893;QD=7.53;ReadPosRankSum=-1.087;SB=-321.51;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,26:61:99:489,0,905:0.426:99 chrX 153010090 rs75637470 G A 639.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.537;DP=81;Dels=0.00;FS=0.848;HRun=1;HaplotypeScore=1.7882;MQ=45.94;MQ0=0;MQRankSum=-6.639;QD=7.90;ReadPosRankSum=0.946;SB=-423.02;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,36:81:99:670,0,1001:0.444:99 chrX 153010092 rs78155328 G A 657.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.326;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=46.33;MQ0=0;MQRankSum=-6.712;QD=7.92;ReadPosRankSum=1.034;SB=-444.73;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,36:83:99:688,0,1022:0.434:99 chrX 153010137 . C T 255.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.034;DP=91;Dels=0.00;FS=2.156;HRun=0;HaplotypeScore=5.6824;MQ=45.60;MQ0=0;MQRankSum=-5.327;QD=2.81;ReadPosRankSum=-4.487;SB=-131.88;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,19:91:99:286,0,1642:0.209:99 chrX 153010149 . G A 48.17 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.054;DP=78;Dels=0.00;FS=1.403;HRun=0;HaplotypeScore=1.7608;MQ=46.60;MQ0=0;MQRankSum=-5.089;QD=0.62;ReadPosRankSum=-5.044;SB=-0.01;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,10:78:78.17:78,0,1513:0.128:48 chrX 153294542 rs2853337 T C 1583.29 PASS AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8453;MQ=52.66;MQ0=0;QD=26.39;SB=-1013.48;TI=NM_004992;GI=MECP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,59:60:99:1616,117,0:1.000:99 chrX 153629155 rs4909;rs12012747;rs17091345 A G 562.92 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=39.86;MQ0=11;QD=17.59;SB=-317.05;TI=NM_006013,NR_026898;GI=RPL10,RPL10;FC=Missense_N202S,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,29:32:42.14:596,42,0:0.906:42 chrX 153630255 rs12877 G C 799.61 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.09;MQ0=0;QD=30.75;SB=-425.57;TI=NM_006013,NR_026898,NM_006730,NM_001009933,NM_001009932,NM_001009934;GI=RPL10,RPL10,DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,26:26:63.17:833,63,0:1.000:63 chrX 153630293 rs12559 C T 802.42 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.21;MQ0=0;QD=25.08;SB=-503.32;TI=NM_006013,NR_026898,NM_006730,NM_001009933,NM_001009932,NM_001009934;GI=RPL10,RPL10,DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,32:32:60.17:835,60,0:1.000:60 chrX 153640060 rs11388353 CT C 542.60 LowDP AC=2;AF=1.00;AN=2;DP=14;FS=0.000;HRun=1;HaplotypeScore=18.3693;MQ=48.73;MQ0=0;QD=38.76;SB=-214.91;TI=NM_001009933,NM_001009932,NM_001009934,NR_024048,NM_181311,NM_181312,NM_000116,NM_181313;GI=DNASE1L1,DNASE1L1,DNASE1L1,TAZ,TAZ,TAZ,TAZ,TAZ;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,13:14:41.98:585,42,0:0.929:41 chrX 153649813 rs743547 G C 874.56 PASS AC=2;AF=1.00;AN=2;DP=40;Dels=0.05;FS=0.000;HRun=6;HaplotypeScore=2.9119;MQ=42.45;MQ0=0;QD=21.86;SB=-658.16;TI=NR_024048,NM_181311,NM_181312,NM_000116,NM_181313;GI=TAZ,TAZ,TAZ,TAZ,TAZ;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,38:38:63.21:908,63,0:1.000:63 chrX 153759858 rs1050757 T C 682.00 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.476;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=50.06;MQ0=0;MQRankSum=1.605;QD=25.26;ReadPosRankSum=0.193;SB=-277.00;TI=NM_000402,NM_001042351;GI=G6PD,G6PD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,26:27:51.17:715,51,0:0.963:51 chrX 153760654 rs2230037 G A 717.87 PASS AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=48.12;MQ0=0;QD=21.75;SB=-635.43;TI=NM_000402,NM_001042351;GI=G6PD,G6PD;FC=Synonymous_Y467Y,Synonymous_Y437Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,33:33:51.17:751,51,0:1.000:51 chrX 153776155 rs56262786 C G 517.32 PASS AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.96;MQ0=0;QD=24.63;SB=-388.61;TI=NM_001099856,NM_001099857,NM_001145255,NM_003639;GI=IKBKG,IKBKG,IKBKG,IKBKG;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,21:21:39.13:550,39,0:1.000:39 chrX 153994596 rs2728532 G T 1796.03 PASS AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.9568;MQ=44.99;MQ0=0;QD=24.60;SB=-1190.86;TI=NM_001363,NM_001142463;GI=DKC1,DKC1;FC=Synonymous_T123T,Synonymous_T123T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,72:73:99:1829,132,0:1.000:99 chrX 154005148 rs1800533 G A 1229.84 PASS AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8888;MQ=49.43;MQ0=0;QD=22.77;SB=-1017.79;TI=NM_001363,NM_001142463;GI=DKC1,DKC1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,54:54:87.29:1263,87,0:1.000:87 chrX 154064580 rs1396947 T C 886.02 PASS AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=46.03;MQ0=0;QD=25.31;SB=-588.17;TI=NM_019863,NM_000132;GI=F8,F8;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,35:35:66.21:919,66,0:1.000:66 chrX 154158201 rs1800292 T G 1178.39 PASS AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4156;MQ=57.30;MQ0=0;QD=23.11;SB=-894.22;TI=NM_000132;GI=F8;FC=Synonymous_S1288S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,51:51:84.28:1211,84,0:1.000:84