##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\161010_M02153_0038_000000000-AWDD1\Data\Intensities\BaseCalls\Alignment\HG1r3_S1.bam] read_buffer_size=null phone_home=NO_ET gatk_key=null read_filter=[] intervals=[D:\Illumina\MiSeqAnalysis\161010_M02153_0038_000000000-AWDD1\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 HG1r3 chr1 2340073 rs76530653 C G 457.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.703;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7604;MQ=43.89;MQ0=0;MQRankSum=-2.051;QD=8.80;ReadPosRankSum=1.905;SB=-403.21;TI=NM_153818,NM_002617;GI=PEX10,PEX10;FC=Missense_G140R,Missense_G140R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,25:52:99:488,0,627:0.481:99 chr1 2340200 rs2494598 T C 752.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.319;DP=87;Dels=0.00;FS=0.810;HRun=0;HaplotypeScore=1.7882;MQ=46.15;MQ0=0;MQRankSum=0.388;QD=8.65;ReadPosRankSum=0.677;SB=-601.83;TI=NM_153818,NM_002617;GI=PEX10,PEX10;FC=Synonymous_T97T,Synonymous_T97T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,40:87:99:782,0,929:0.460:99 chr1 6526691 . C G 164.18 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.114;DP=76;Dels=0.00;FS=24.023;HRun=0;HaplotypeScore=0.9983;MQ=42.75;MQ0=0;MQRankSum=-5.079;QD=2.16;ReadPosRankSum=-5.079;SB=-0.01;TI=NM_001042665,NM_001042664,NM_020631,NM_001042663,NM_198681;GI=PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,10:76:99:194,0,1381:0.132:99 chr1 6526701 . T A 136.76 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.299;DP=75;Dels=0.00;FS=20.817;HRun=4;HaplotypeScore=1.8650;MQ=43.17;MQ0=0;MQRankSum=-5.073;QD=1.82;ReadPosRankSum=-4.917;SB=-0.01;TI=NM_001042665,NM_001042664,NM_020631,NM_001042663,NM_198681;GI=PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,10:75:99:167,0,1347:0.133:99 chr1 6526703 . C A 133.94 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-3.686;DP=75;Dels=0.00;FS=20.817;HRun=5;HaplotypeScore=1.8650;MQ=43.17;MQ0=0;MQRankSum=-5.073;QD=1.79;ReadPosRankSum=-5.026;SB=-0.01;TI=NM_001042665,NM_001042664,NM_020631,NM_001042663,NM_198681;GI=PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,10:75:99:164,0,1347:0.133:99 chr1 6526857 . TAA T 189.43 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.046;DP=90;FS=0.000;HRun=15;HaplotypeScore=146.4673;MQ=44.08;MQ0=0;MQRankSum=0.680;QD=2.10;ReadPosRankSum=2.124;SB=-96.96;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 0/1:47,11:90:99:228,0,1629:0.190:99 chr1 6579607 rs1556035 C T 1615.92 PASS AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=47.55;MQ0=0;QD=24.86;SB=-1155.83;TI=NM_198681;GI=PLEKHG5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,65:65:99:1649,114,0:1.000:99 chr1 6579843 rs1010584 C T 365.81 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.83;MQ0=0;QD=21.52;SB=-310.90;TI=NM_198681;GI=PLEKHG5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,17:17:27.09:399,27,0:1.000:27 chr1 21889635 rs1780316 T C 1491.98 PASS AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.46;MQ0=0;QD=22.95;SB=-1134.84;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 1/1:0,65:65:99:1525,105,0:1.000:99 chr1 21904131 rs34605986 T C 204.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.097;DP=36;Dels=0.00;FS=1.370;HRun=2;HaplotypeScore=2.9861;MQ=41.55;MQ0=0;MQRankSum=-1.191;QD=5.67;ReadPosRankSum=0.419;SB=-171.07;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Missense_V522A,Missense_V445A,Missense_V467A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,12:36:99:234,0,538:0.333:99 chr1 21904206 rs1697405 C T 682.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.622;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=42.91;MQ0=0;MQRankSum=-1.097;QD=10.50;ReadPosRankSum=0.204;SB=-524.24;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,34:65:99:713,0,596:0.523:99 chr1 21904267 rs1697406 A G 777.76 PASS AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.70;MQ0=0;QD=26.82;SB=-424.09;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,29:29:57.19:811,57,0:1.000:57 chr1 21904374 rs1772719 A C 824.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.372;DP=98;Dels=0.00;FS=0.754;HRun=1;HaplotypeScore=0.8941;MQ=48.85;MQ0=0;MQRankSum=-1.668;QD=8.41;ReadPosRankSum=-1.618;SB=-657.44;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,43:98:99:854,0,1184:0.439:99 chr1 22191454 rs897471 G A 3584.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.442;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6699;MQ=42.16;MQ0=0;MQRankSum=1.710;QD=23.13;ReadPosRankSum=1.509;SB=-3015.77;TI=NM_005529;GI=HSPG2;FC=Missense_A1503V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,154:155:99:3585,222,0:0.994:99 chr1 22206649 rs989994 T C 1384.40 PASS AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48.59;MQ0=0;QD=25.64;SB=-952.63;TI=NM_005529;GI=HSPG2;FC=Missense_N765S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,54:54:99:1417,99,0:1.000:99 chr1 22206942 rs1874793 G A 3626.22 PASS AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=41.21;MQ0=0;QD=23.24;SB=-3049.31;TI=NM_005529;GI=HSPG2;FC=Synonymous_A703A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,156:156:99:3626,247,0:1.000:99 chr1 22207235 rs1874792 T C 2302.40 PASS AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4321;MQ=44.35;MQ0=0;QD=23.74;SB=-1862.51;TI=NM_005529;GI=HSPG2;FC=Missense_M638V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,97:97:99:2335,163,0:1.000:99 chr1 22214127 rs2229478 A G 3183.95 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.623;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4837;MQ=43.63;MQ0=0;MQRankSum=-1.664;QD=22.11;ReadPosRankSum=-2.228;SB=-2649.43;TI=NM_005529;GI=HSPG2;FC=Synonymous_L248L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,142:144:99:3217,181,0:0.986:99 chr1 22217108 rs2501260 G A 3875.68 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.711;DP=165;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.3505;MQ=46.98;MQ0=0;MQRankSum=0.472;QD=23.49;ReadPosRankSum=1.690;SB=-3115.92;TI=NM_005529;GI=HSPG2;FC=Synonymous_F108F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,164:165:99:3876,265,0:0.994:99 chr1 24128467 rs11714 C T 4020.16 PASS AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7876;MQ=48.07;MQ0=0;QD=23.24;SB=-3291.66;TI=NM_000191,NM_001166059;GI=HMGCL,HMGCL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,173:173:99:4020,274,0:1.000:99 chr1 24134721 rs719400 T C 1594.60 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.32;MQ0=0;QD=23.80;SB=-1205.90;TI=NM_000191,NM_001166059;GI=HMGCL,HMGCL;FC=Synonymous_L218L,Synonymous_L147L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:67:99:1628,111,0:1.000:99 chr1 26131654 rs7349185 G A 1376.23 PASS AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.57;MQ0=0;QD=23.33;SB=-1134.27;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Missense_C142Y,Missense_C108Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,59:59:96.32:1409,96,0:1.000:96 chr1 26138262 rs760597 T C 4482.92 PASS AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.2303;MQ=49.73;MQ0=0;QD=23.35;SB=-3663.12;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Synonymous_P391P,Synonymous_P357P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,192:192:99:4483,307,0:1.000:99 chr1 26140573 rs2294228 C A 2386.69 PASS AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=45.56;MQ0=0;QD=23.63;SB=-1906.24;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Missense_N502K,Missense_N468K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,101:101:99:2420,166,0:1.000:99 chr1 26142386 . A G 34.35 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.294;DP=12;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=49.84;MQ0=0;MQRankSum=1.294;QD=2.86;ReadPosRankSum=-0.370;SB=-25.60;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,3:12:64.35:64,0,194:0.250:34 chr1 26143704 rs3033477 A ATTTTG 9211.95 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.250;DP=140;FS=0.000;HRun=0;HaplotypeScore=80.9480;MQ=57.51;MQ0=1;MQRankSum=2.043;QD=65.80;ReadPosRankSum=-1.100;SB=-4477.79;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:11,128:139:99:9212,256,0:0.921:99 chr1 26143821 rs1139710;rs3203750 T C 343.62 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=61.64;MQ0=0;QD=26.43;SB=-162.59;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,13:13:27.09:377,27,0:1.000:27 chr1 26144013 . T C 66.38 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=22.13;SB=-0.01;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:9.02:98,9,0:1.000:9 chr1 40562993 rs6600313 T C 2169.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.632;DP=191;Dels=0.00;FS=1.134;HRun=1;HaplotypeScore=6.2912;MQ=48.45;MQ0=0;MQRankSum=1.266;QD=11.36;ReadPosRankSum=-2.731;SB=-1603.32;TI=NM_001142604,NM_000310;GI=PPT1,PPT1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,101:191:99:2199,0,1828:0.532:99 chr1 40759019 rs67294434 G C 5374.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.092;DP=537;Dels=0.00;FS=0.313;HRun=0;HaplotypeScore=25.4586;MQ=53.60;MQ0=0;MQRankSum=3.962;QD=10.01;ReadPosRankSum=-0.181;SB=-3947.70;TI=NM_005857;GI=ZMPSTE24;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:277,258:536:99:5374,0,5764:0.482:99 chr1 43200526 rs912075 T C 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_001123395,NM_148960,NM_001185117;GI=CLDN19,CLDN19,CLDN19;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr1 43201216 rs12141833 A C 300.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.418;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6543;MQ=43.49;MQ0=0;MQRankSum=-2.484;QD=6.40;ReadPosRankSum=-1.433;SB=-278.67;TI=NM_001123395,NM_148960,NM_001185117;GI=CLDN19,CLDN19,CLDN19;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,18:47:99:331,0,592:0.383:99 chr1 43212111 rs6882 C T 522.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.309;DP=46;Dels=0.00;FS=1.115;HRun=1;HaplotypeScore=4.8867;MQ=50.33;MQ0=0;MQRankSum=0.441;QD=11.36;ReadPosRankSum=0.684;SB=-415.20;TI=NM_001146289,NM_022356;GI=LEPRE1,LEPRE1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,25:46:99:553,0,473:0.543:99 chr1 43212431 rs4660662 A G 1451.99 PASS AC=2;AF=1.00;AN=2;DP=66;Dels=0.03;FS=0.000;HRun=6;HaplotypeScore=4.7992;MQ=44.09;MQ0=0;QD=22.00;SB=-1137.48;TI=NM_001146289,NM_022356;GI=LEPRE1,LEPRE1;FC=Silent,Synonymous_G716G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,64:64:99:1485,102,0:1.000:99 chr1 43819117 rs77858547 A T 22.18 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=3;Dels=0.00;FS=4.771;HRun=1;HaplotypeScore=0.0000;MQ=34.54;MQ0=0;MQRankSum=0.736;QD=7.39;ReadPosRankSum=-0.736;SB=-1.26;TI=NM_005373;GI=MPL;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:30.98:52,0,31:0.667:22 chr1 43819118 . A T 32.54 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=3;Dels=0.00;FS=4.771;HRun=30;HaplotypeScore=0.0000;MQ=34.54;MQ0=0;MQRankSum=0.736;QD=10.85;ReadPosRankSum=-0.736;SB=-1.26;TI=NM_005373;GI=MPL;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:30.98:63,0,31:0.667:30 chr1 44290530 rs37458 A G 3290.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.577;DP=326;Dels=0.00;FS=0.401;HRun=0;HaplotypeScore=9.2696;MQ=46.93;MQ0=0;MQRankSum=0.881;QD=10.09;ReadPosRankSum=1.190;SB=-2492.20;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,Missense_T113A,Silent,Silent,Missense_T128A,Silent,Silent,Missense_T97A,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:171,155:326:99:3290,0,3599:0.475:99 chr1 44396646 rs6801 C G 406.46 LowDP AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.59;MQ0=0;QD=22.58;SB=-360.54;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 1/1:0,18:18:30.10:439,30,0:1.000:30 chr1 45975088 . G GTTTTT 632.81 R8 AC=2;AF=1.00;AN=2;DP=21;FS=0.000;HRun=16;HaplotypeScore=49.4791;MQ=36.67;MQ0=0;QD=30.13;SB=-230.83;TI=NM_015506;GI=MMACHC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:7,8:21:41.37:675,41,0:0.533:41 chr1 45975166 rs9729395 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=60.00;MQ0=0;QD=7.46;SB=-40.65;TI=NM_015506;GI=MMACHC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr1 45975217 . T C 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=60.00;MQ0=0;QD=7.46;SB=-40.65;TI=NM_015506;GI=MMACHC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr1 45975739 rs33996053 ACT A 854.68 PASS AC=2;AF=1.00;AN=2;DP=20;FS=0.000;HRun=0;HaplotypeScore=37.3934;MQ=44.03;MQ0=2;QD=42.73;SB=-354.79;TI=NM_015506;GI=MMACHC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,17:18:54.18:897,54,0:0.850:54 chr1 45976147 rs882803 G A 2530.70 PASS AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=43.57;MQ0=0;QD=22.60;SB=-2084.79;TI=NM_015506;GI=MMACHC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,112:112:99:2564,175,0:1.000:99 chr1 45976263 rs5773883 C CT 867.04 PASS AC=2;AF=1.00;AN=2;DP=22;FS=0.000;HRun=0;HaplotypeScore=15.2903;MQ=58.79;MQ0=0;QD=39.41;SB=-409.07;TI=NM_015506;GI=MMACHC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,20:22:60.20:909,60,0:1.000:60 chr1 45976587 rs1044717 A G 3093.77 PASS AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.18;MQ0=0;QD=28.13;SB=-1465.65;TI=NM_015506;GI=MMACHC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,110:110:99:3127,226,0:1.000:99 chr1 46655158 rs6659553 T C 3161.57 PASS AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.35;MQ0=0;QD=23.25;SB=-2617.04;TI=NM_017739,NR_024332;GI=POMGNT1,POMGNT1;FC=Missense_M623V,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,136:136:99:3195,220,0:1.000:99 chr1 46660295 rs2292487 T C 4885.21 PASS AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=45.50;MQ0=0;QD=23.04;SB=-4012.78;TI=NM_017739,NR_024332;GI=POMGNT1,POMGNT1;FC=Synonymous_K227K,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,212:212:99:4885,334,0:1.000:99 chr1 53676448 rs1799821 G A 1444.41 PASS AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.47;MQ0=0;QD=21.88;SB=-1313.33;TI=NM_000098;GI=CPT2;FC=Missense_V368I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,66:66:99:1477,99,0:1.000:99 chr1 53679229 rs1799822 A G 1693.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.677;DP=172;Dels=0.00;FS=1.197;HRun=0;HaplotypeScore=5.4377;MQ=46.20;MQ0=0;MQRankSum=-0.904;QD=9.85;ReadPosRankSum=-1.097;SB=-1235.18;TI=NM_000098;GI=CPT2;FC=Missense_M647V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,83:172:99:1724,0,1791:0.483:99 chr1 55315351 rs657688 T C 3808.16 PASS AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.17;MQ0=0;QD=23.51;SB=-2992.03;TI=NM_014762;GI=DHCR24;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,162:162:99:3808,262,0:1.000:99 chr1 55315941 rs11555500 G T 418.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.512;DP=27;Dels=0.00;FS=6.219;HRun=0;HaplotypeScore=1.8874;MQ=55.54;MQ0=0;MQRankSum=0.464;QD=15.49;ReadPosRankSum=1.732;SB=-235.09;TI=NM_014762;GI=DHCR24;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,15:27:99:448,0,340:0.556:99 chr1 55316082 rs654561 A C 4005.31 PASS AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6717;MQ=44.26;MQ0=0;QD=23.15;SB=-3246.55;TI=NM_014762;GI=DHCR24;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,172:173:99:4005,274,0:1.000:99 chr1 55319902 rs718265 A G 9967.63 PASS AC=2;AF=1.00;AN=2;DP=432;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4029;MQ=46.24;MQ0=0;QD=23.07;SB=-8303.53;TI=NM_014762;GI=DHCR24;FC=Synonymous_I342I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,432:432:99:9968,677,0:1.000:99 chr1 67465371 . T TA 665.00 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.125;DP=384;FS=2.503;HRun=13;HaplotypeScore=470.2809;MQ=56.00;MQ0=0;MQRankSum=4.000;QD=1.73;ReadPosRankSum=2.697;SB=-116.88;TI=NM_015139;GI=SLC35D1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:282,63:384:99:704,0,4774:0.183:99 chr1 67465791 . G GA 41.87 R8;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.411;DP=33;FS=8.400;HRun=15;HaplotypeScore=79.6259;MQ=41.64;MQ0=0;MQRankSum=2.017;QD=1.27;ReadPosRankSum=0.921;SB=-0.00;TI=NM_015139;GI=SLC35D1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,7:33:80.90:81,0,338:0.280:41 chr1 67465969 . C T 17.54 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.831;DP=25;Dels=0.00;FS=44.205;HRun=18;HaplotypeScore=7.2468;MQ=46.93;MQ0=0;MQRankSum=-1.113;QD=0.70;ReadPosRankSum=-3.150;SB=-2.88;TI=NM_015139;GI=SLC35D1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,6:25:47.46:47,0,505:0.240:17 chr1 67468124 rs2065000 G C 4880.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.483;DP=434;Dels=0.00;FS=1.119;HRun=0;HaplotypeScore=12.6530;MQ=49.89;MQ0=0;MQRankSum=1.701;QD=11.24;ReadPosRankSum=0.693;SB=-3584.47;TI=NM_015139;GI=SLC35D1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:215,218:434:99:4880,0,4664:0.503:99 chr1 67520059 rs71849659 CCA C 2146.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.998;DP=71;FS=3.562;HRun=0;HaplotypeScore=39.0771;MQ=43.45;MQ0=0;MQRankSum=-0.659;QD=30.23;ReadPosRankSum=0.776;SB=-992.56;TI=NM_015139;GI=SLC35D1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,47:71:99:2186,0,857:0.662:99 chr1 76190066 . G C 14.00 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.281;DP=49;Dels=0.00;FS=8.483;HRun=1;HaplotypeScore=17.8408;MQ=40.38;MQ0=0;MQRankSum=-3.253;QD=0.29;ReadPosRankSum=-3.452;SB=-0.01;TI=NM_000016,NM_001127328;GI=ACADM,ACADM;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,5:49:43.82:44,0,1236:0.102:14 chr1 76227022 rs1061337 A G 4116.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.632;DP=382;Dels=0.00;FS=1.670;HRun=1;HaplotypeScore=10.0329;MQ=51.85;MQ0=0;MQRankSum=-0.790;QD=10.78;ReadPosRankSum=-1.200;SB=-2712.78;TI=NM_000016,NM_001127328;GI=ACADM,ACADM;FC=Synonymous_V387V,Synonymous_V391V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:197,185:382:99:4117,0,4506:0.484:99 chr1 76229120 rs8763 T C 2849.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.036;DP=244;Dels=0.00;FS=7.024;HRun=1;HaplotypeScore=10.1521;MQ=49.38;MQ0=0;MQRankSum=1.754;QD=11.68;ReadPosRankSum=0.364;SB=-1745.59;TI=NM_000016,NM_001127328;GI=ACADM,ACADM;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:125,118:244:99:2880,0,3037:0.486:99 chr1 76229326 rs1146587 T C 5339.84 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.664;DP=206;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2285;MQ=55.57;MQ0=0;MQRankSum=1.648;QD=25.92;ReadPosRankSum=1.141;SB=-3326.91;TI=NM_000016,NM_001127328;GI=ACADM,ACADM;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,204:206:99:5340,376,0:0.995:99 chr1 97543752 rs291593 G A 734.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.558;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=46.34;MQ0=0;MQRankSum=-0.331;QD=6.93;ReadPosRankSum=-1.949;SB=-558.13;TI=NM_000110;GI=DPYD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,37:106:99:764,0,1444:0.349:99 chr1 97543764 rs291592 C T 1123.87 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.141;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7711;MQ=44.52;MQ0=0;MQRankSum=-2.562;QD=7.91;ReadPosRankSum=-2.729;SB=-954.21;TI=NM_000110;GI=DPYD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:81,60:142:99:1154,0,1697:0.426:99 chr1 97981395 rs1801159 T C 2420.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.018;DP=226;Dels=0.00;FS=1.624;HRun=0;HaplotypeScore=0.9998;MQ=49.05;MQ0=0;MQRankSum=-1.862;QD=10.71;ReadPosRankSum=-1.150;SB=-1961.93;TI=NM_000110;GI=DPYD;FC=Missense_I543V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:106,119:226:99:2451,0,2250:0.529:99 chr1 97981421 rs1801158 C T 2304.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.344;DP=225;Dels=0.00;FS=1.036;HRun=1;HaplotypeScore=2.7880;MQ=47.76;MQ0=0;MQRankSum=1.668;QD=10.24;ReadPosRankSum=0.997;SB=-1436.35;TI=NM_000110;GI=DPYD;FC=Missense_S534N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:120,105:225:99:2334,0,2710:0.467:99 chr1 98185527 rs2151562 A G 1839.31 PASS AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.63;MQ0=0;QD=23.28;SB=-1467.67;TI=NM_000110,NM_001160301;GI=DPYD,DPYD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,79:79:99:1872,129,0:1.000:99 chr1 98186077 rs1333718 T C 2809.55 PASS AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=56.39;MQ0=0;QD=28.67;SB=-1776.62;TI=NM_000110,NM_001160301;GI=DPYD,DPYD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,98:98:99:2843,205,0:1.000:99 chr1 98348885 rs1801265 G A 13082.56 PASS AC=2;AF=1.00;AN=2;DP=547;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6817;MQ=46.29;MQ0=0;QD=23.92;SB=-10454.73;TI=NM_000110,NM_001160301;GI=DPYD,DPYD;FC=Missense_R29C,Missense_R29C;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,547:547:99:13083,897,0:1.000:99 chr1 100316589 rs2307130 A G 5973.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.735;DP=557;Dels=0.00;FS=0.633;HRun=1;HaplotypeScore=7.7714;MQ=53.19;MQ0=0;MQRankSum=4.435;QD=10.72;ReadPosRankSum=1.954;SB=-4237.67;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646;GI=AGL,AGL,AGL,AGL,AGL;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:291,266:557:99:5973,0,6886:0.478:99 chr1 100336361 rs2230306 C T 4072.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.915;DP=376;Dels=0.00;FS=0.781;HRun=1;HaplotypeScore=14.6985;MQ=51.87;MQ0=0;MQRankSum=2.347;QD=10.83;ReadPosRankSum=0.318;SB=-3014.50;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 0/1:183,193:376:99:4073,0,3779:0.513:99 chr1 100387479 rs1804808 G T 4851.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.106;DP=411;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.7663;MQ=56.65;MQ0=0;MQRankSum=2.377;QD=11.81;ReadPosRankSum=-0.699;SB=-3338.42;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 0/1:193,218:411:99:4852,0,4145:0.530:99 chr1 100387939 rs3766600 C T 3483.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.357;DP=301;Dels=0.00;FS=0.873;HRun=1;HaplotypeScore=8.3635;MQ=55.76;MQ0=0;MQRankSum=1.911;QD=11.57;ReadPosRankSum=0.144;SB=-2473.79;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 0/1:151,150:301:99:3483,0,3512:0.498:99 chr1 100388235 rs3766601 C T 4491.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.341;DP=405;Dels=0.00;FS=1.673;HRun=0;HaplotypeScore=7.4647;MQ=57.02;MQ0=0;MQRankSum=-0.709;QD=11.09;ReadPosRankSum=0.878;SB=-2386.61;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 0/1:225,180:405:99:4492,0,5674:0.444:99 chr1 100388503 rs1804809 A C 5453.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.211;DP=465;Dels=0.00;FS=3.470;HRun=0;HaplotypeScore=11.1510;MQ=55.31;MQ0=0;MQRankSum=1.502;QD=11.73;ReadPosRankSum=-0.035;SB=-3093.74;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 0/1:231,233:465:99:5453,0,5404:0.502:99 chr1 100388748 rs3766603 T C 2598.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.504;DP=230;Dels=0.00;FS=0.489;HRun=0;HaplotypeScore=6.2804;MQ=51.42;MQ0=0;MQRankSum=2.088;QD=11.30;ReadPosRankSum=-1.131;SB=-1444.33;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 0/1:121,109:230:99:2629,0,2990:0.474:99 chr1 100652729 rs72728160 G A 4205.24 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.412;DP=130;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5764;MQ=57.55;MQ0=0;MQRankSum=2.240;QD=32.35;ReadPosRankSum=0.105;SB=-1121.19;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,127:130:99:4205,307,0:0.984:99 chr1 100653256 . AT A 57.12 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.252;DP=51;FS=0.000;HRun=17;HaplotypeScore=274.0579;MQ=52.48;MQ0=0;MQRankSum=1.330;QD=1.12;ReadPosRankSum=-1.311;SB=-30.73;TI=NM_001918;GI=DBT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,5:51:96.15:96,0,426:0.128:57 chr1 100654720 . A G 186.32 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.355;DP=23;Dels=0.00;FS=17.129;HRun=0;HaplotypeScore=0.0000;MQ=40.87;MQ0=0;MQRankSum=-3.905;QD=8.10;ReadPosRankSum=-3.389;SB=-0.01;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,8:23:99:216,0,336:0.348:99 chr1 100654723 . C T 183.31 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.029;DP=25;Dels=0.00;FS=16.623;HRun=0;HaplotypeScore=0.0000;MQ=40.57;MQ0=0;MQRankSum=-3.990;QD=7.33;ReadPosRankSum=-2.592;SB=-0.01;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,8:25:99:213,0,378:0.320:99 chr1 100654730 . CTGCT C 532.72 SB AC=1;AF=0.50;AN=2;BaseQRankSum=4.096;DP=26;FS=20.270;HRun=0;HaplotypeScore=127.0881;MQ=40.19;MQ0=0;MQRankSum=-4.150;QD=20.49;ReadPosRankSum=0.269;SB=-0.00;TI=NM_001918;GI=DBT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,9:26:99:572,0,1204:0.346:99 chr1 100654741 . A T 210.73 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.083;DP=27;Dels=0.00;FS=19.362;HRun=1;HaplotypeScore=2.8633;MQ=39.83;MQ0=0;MQRankSum=-4.192;QD=7.80;ReadPosRankSum=-4.192;SB=-0.01;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,9:27:99:241,0,409:0.333:99 chr1 100654742 . G T 213.74 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.701;DP=27;Dels=0.00;FS=20.270;HRun=0;HaplotypeScore=2.8633;MQ=39.83;MQ0=0;MQRankSum=-4.150;QD=7.92;ReadPosRankSum=-4.150;SB=-0.01;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,9:27:99:244,0,378:0.346:99 chr1 100654907 . TAAA T,TAA 1071.99 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-0.864;DP=55;FS=3.938;HaplotypeScore=293.4936;MQ=42.31;MQ0=0;MQRankSum=-1.890;QD=19.49;ReadPosRankSum=-1.517;SB=-449.35;TI=NM_001918;GI=DBT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:4,8,0:55:99:1150,405,389,532,0,396:0.667:99 chr1 100655583 rs4281338 T A 423.77 LowDP AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.27;SB=-280.48;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,14:14:33.11:457,33,0:1.000:33 chr1 100656265 rs11166412 C T 4442.48 PASS AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7748;MQ=56.20;MQ0=0;QD=26.44;SB=-2702.94;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,168:168:99:4442,313,0:1.000:99 chr1 100656494 rs11166413 A G 1844.06 PASS AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7605;MQ=58.51;MQ0=0;QD=29.27;SB=-771.02;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,63:63:99:1877,135,0:1.000:99 chr1 100656661 rs6701655 T C 3342.47 PASS AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7871;MQ=48.69;MQ0=0;QD=26.32;SB=-2054.20;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,127:127:99:3342,235,0:1.000:99 chr1 100657505 . AT A 296.00 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.977;DP=113;FS=0.000;HRun=14;HaplotypeScore=191.2941;MQ=45.91;MQ0=0;MQRankSum=-3.027;QD=2.62;ReadPosRankSum=0.092;SB=-163.93;TI=NM_001918;GI=DBT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,24:113:99:335,0,1493:0.255:99 chr1 100658578 rs2784174 G A 637.65 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=27.72;SB=-359.13;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,23:23:48.16:671,48,0:1.000:48 chr1 100659894 . GT G 63.09 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.544;DP=42;FS=0.000;HRun=15;HaplotypeScore=95.9544;MQ=42.72;MQ0=0;MQRankSum=-1.133;QD=1.50;ReadPosRankSum=-0.221;SB=-25.78;TI=NM_001918;GI=DBT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,8:42:99:102,0,496:0.235:63 chr1 100660019 . A G 15.78 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.931;DP=11;Dels=0.00;FS=3.010;HRun=0;HaplotypeScore=13.9524;MQ=39.17;MQ0=0;MQRankSum=-0.715;QD=1.43;ReadPosRankSum=0.715;SB=-0.01;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,3:11:45.66:46,0,176:0.273:15 chr1 100672060 rs12021720 T C 3606.83 PASS AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4678;MQ=48.88;MQ0=0;QD=25.95;SB=-2315.28;TI=NM_001918;GI=DBT;FC=Missense_S384G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,138:139:99:3607,259,0:1.000:99 chr1 115576023 rs10776792 A G 3525.35 PASS AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=50.22;MQ0=0;QD=23.98;SB=-2731.65;TI=NM_000549;GI=TSHB;FC=Missense_T14A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,147:147:99:3525,241,0:1.000:99 chr1 150771703 rs10788796 T C 4378.75 PASS AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=47.65;MQ0=0;QD=24.33;SB=-3249.08;TI=NM_000396;GI=CTSK;FC=Synonymous_A277A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,180:180:99:4379,301,0:1.000:99 chr1 154245142 rs11265425 T G 787.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.497;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8899;MQ=45.20;MQ0=0;MQRankSum=-1.413;QD=9.27;ReadPosRankSum=0.084;SB=-626.05;TI=NM_001018837,NM_006118;GI=HAX1,HAX1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,40:85:99:818,0,1037:0.471:99 chr1 155259323 rs8847 C T 2584.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.500;DP=232;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.5581;MQ=45.55;MQ0=0;MQRankSum=-0.316;QD=11.14;ReadPosRankSum=0.468;SB=-2134.40;TI=NM_020897,NM_181871,NM_000298;GI=HCN3,PKLR,PKLR;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:104,127:232:99:2614,0,2009:0.550:99 chr1 155260096 rs932972 G A 1127.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.253;DP=109;Dels=0.00;FS=1.549;HRun=0;HaplotypeScore=1.7882;MQ=42.84;MQ0=0;MQRankSum=-0.834;QD=10.34;ReadPosRankSum=-1.914;SB=-907.09;TI=NM_181871,NM_000298;GI=PKLR,PKLR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,57:109:99:1158,0,1047:0.523:99 chr1 155260350 rs1052177 A G 687.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.434;DP=44;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6548;MQ=47.77;MQ0=0;MQRankSum=0.854;QD=15.64;ReadPosRankSum=-0.322;SB=-515.36;TI=NM_181871,NM_000298;GI=PKLR,PKLR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,34:44:99:718,0,155:0.773:99 chr1 155260383 rs1052176 G T 1046.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.132;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=43.25;MQ0=0;MQRankSum=1.946;QD=11.75;ReadPosRankSum=2.174;SB=-837.64;TI=NM_181871,NM_000298;GI=PKLR,PKLR;FC=Synonymous_R538R,Synonymous_R569R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,55:89:99:1076,0,626:0.618:99 chr1 156104292 rs12117552 G A 987.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.144;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8934;MQ=45.48;MQ0=0;MQRankSum=-0.829;QD=14.74;ReadPosRankSum=-0.582;SB=-776.36;TI=NM_005572,NM_170707,NM_170708;GI=LMNA,LMNA,LMNA;FC=Synonymous_L204L,Synonymous_L204L,Synonymous_L204L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,47:67:99:1017,0,339:0.701:99 chr1 156107534 rs4641 C T 805.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.984;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5436;MQ=41.56;MQ0=0;MQRankSum=0.035;QD=10.33;ReadPosRankSum=1.435;SB=-673.45;TI=NM_005572,NM_170707,NM_170708;GI=LMNA,LMNA,LMNA;FC=Synonymous_H566H,Synonymous_H566H,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,40:78:99:836,0,761:0.513:99 chr1 156785617 rs1800601 G A 3541.56 PASS AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=42.74;MQ0=0;QD=22.70;SB=-2937.61;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 1/1:0,156:156:99:3542,241,0:1.000:99 chr1 156830779 rs1007211 G A 234.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.802;DP=34;Dels=0.00;FS=1.428;HRun=0;HaplotypeScore=6.8137;MQ=47.11;MQ0=0;MQRankSum=-1.697;QD=6.89;ReadPosRankSum=-0.857;SB=-167.60;TI=NM_001007792,NM_001012331,NM_002529;GI=NTRK1,NTRK1,NTRK1;FC=Silent,Missense_G18E,Missense_G18E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,14:34:99:264,0,430:0.412:99 chr1 156846233 rs6334 G A 688.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.674;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=48.43;MQ0=0;MQRankSum=-1.294;QD=10.12;ReadPosRankSum=1.625;SB=-535.85;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 0/1:34,34:68:99:718,0,706:0.500:99 chr1 156848995 rs6337 C T 939.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.725;DP=99;Dels=0.00;FS=0.757;HRun=0;HaplotypeScore=6.5750;MQ=47.65;MQ0=0;MQRankSum=-0.032;QD=9.49;ReadPosRankSum=1.937;SB=-734.59;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 0/1:52,47:99:99:970,0,1088:0.475:99 chr1 161274755 . T TTCTC 571.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.004;DP=34;FS=0.000;HRun=0;HaplotypeScore=14.1339;MQ=41.13;MQ0=0;MQRankSum=3.306;QD=16.82;ReadPosRankSum=-0.460;SB=-215.09;TI=NM_000530;GI=MPZ;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,12:34:99:611,0,850:0.375:99 chr1 167399962 rs947480 T C 4668.48 PASS AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.74;MQ0=0;QD=25.65;SB=-3132.46;TI=NM_000734,NM_198053;GI=CD247,CD247;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,182:182:99:4668,325,0:1.000:99 chr1 167400074 rs1052231 T A 434.72 LowDP AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.17;SB=-270.89;TI=NM_000734,NM_198053;GI=CD247,CD247;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,16:16:33.11:468,33,0:1.000:33 chr1 179519880 rs1060775 T C 498.73 LowDP AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.25;SB=-200.38;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,15:15:39.13:532,39,0:1.000:39 chr1 179520050 rs2274622 T C 2727.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.365;DP=257;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7878;MQ=48.07;MQ0=0;MQRankSum=1.402;QD=10.61;ReadPosRankSum=-0.216;SB=-2260.36;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:122,135:257:99:2758,0,2455:0.525:99 chr1 179520151 rs1410590 C T 1150.51 PASS AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;QD=38.35;SB=-40.01;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,30:30:90.29:1184,90,0:1.000:90 chr1 179520254 rs1410591 C G 2227.46 PASS AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=46.33;MQ0=0;QD=25.03;SB=-1580.32;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,89:89:99:2260,157,0:1.000:99 chr1 179520506 rs1410592 G A 3104.37 PASS AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.15;MQ0=0;QD=24.25;SB=-2474.95;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Synonymous_A318A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,128:128:99:3137,217,0:1.000:99 chr1 179544898 rs1079292 T C 2505.05 PASS AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=43.18;MQ0=0;QD=22.57;SB=-1973.68;TI=NM_014625;GI=NPHS2;FC=Synonymous_G34G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,110:111:99:2538,175,0:1.000:99 chr1 179545050 rs12406197 C A 707.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.201;DP=48;Dels=0.00;FS=1.202;HRun=1;HaplotypeScore=1.8808;MQ=44.94;MQ0=0;MQRankSum=-2.158;QD=14.74;ReadPosRankSum=-0.756;SB=-532.96;TI=NM_014625;GI=NPHS2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,33:48:99:737,0,303:0.688:99 chr1 183155482 rs684527 C A 489.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.458;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=44.97;MQ0=0;MQRankSum=-0.798;QD=10.41;ReadPosRankSum=-0.245;SB=-298.33;TI=NM_018891,NM_005562;GI=LAMC2,LAMC2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,23:47:99:519,0,457:0.489:99 chr1 209788514 rs2566 G A 301.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.066;DP=29;Dels=0.00;FS=1.455;HRun=0;HaplotypeScore=1.7882;MQ=51.74;MQ0=0;MQRankSum=-0.417;QD=10.40;ReadPosRankSum=0.811;SB=-239.19;TI=NM_001017402,NM_001127641,NM_000228;GI=LAMB3,LAMB3,LAMB3;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,16:29:99:332,0,258:0.552:99 chr1 209788703 rs1049607 T C 861.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.942;DP=88;Dels=0.00;FS=1.705;HRun=1;HaplotypeScore=0.8941;MQ=41.82;MQ0=0;MQRankSum=-0.906;QD=9.79;ReadPosRankSum=-2.703;SB=-778.68;TI=NM_001017402,NM_001127641,NM_000228;GI=LAMB3,LAMB3,LAMB3;FC=Synonymous_S1144S,Synonymous_S1144S,Synonymous_S1144S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,46:88:99:891,0,863:0.523:99 chr1 209799253 rs2179402 A G 249.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.454;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=40.51;MQ0=0;MQRankSum=-0.124;QD=6.08;ReadPosRankSum=-0.811;SB=-184.30;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 0/1:27,14:41:99:279,0,585:0.341:99 chr1 209811886 rs2076356 T G 1223.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.984;DP=186;Dels=0.00;FS=0.564;HRun=1;HaplotypeScore=3.9989;MQ=43.41;MQ0=0;MQRankSum=-2.304;QD=6.58;ReadPosRankSum=0.494;SB=-999.85;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 0/1:119,67:186:99:1254,0,2476:0.360:99 chr1 215798014 rs2797255 G A 5549.43 PASS AC=2;AF=1.00;AN=2;DP=203;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5750;MQ=51.81;MQ0=0;QD=27.34;SB=-2874.20;TI=NM_206933;GI=USH2A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,203:203:99:5549,391,0:1.000:99 chr1 215844373 rs45549044 C T 1426.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.912;DP=144;Dels=0.00;FS=1.349;HRun=0;HaplotypeScore=0.8941;MQ=50.77;MQ0=0;MQRankSum=0.408;QD=9.91;ReadPosRankSum=-0.919;SB=-822.90;TI=NM_206933;GI=USH2A;FC=Missense_G4692R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,64:144:99:1457,0,1724:0.444:99 chr1 215848587 rs2797234 T C 1329.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.192;DP=128;Dels=0.00;FS=0.653;HRun=0;HaplotypeScore=0.8941;MQ=50.88;MQ0=0;MQRankSum=-2.107;QD=10.39;ReadPosRankSum=-0.214;SB=-988.45;TI=NM_206933;GI=USH2A;FC=Synonymous_T4222T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,65:128:99:1359,0,1414:0.508:99 chr1 215848641 rs2797235 T C 6832.94 PASS AC=2;AF=1.00;AN=2;DP=292;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6877;MQ=46.18;MQ0=0;QD=23.40;SB=-5738.42;TI=NM_206933;GI=USH2A;FC=Synonymous_T4204T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,292:292:99:6833,467,0:1.000:99 chr1 215914826 rs35309576 T C 3747.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.189;DP=363;Dels=0.00;FS=0.384;HRun=0;HaplotypeScore=20.6993;MQ=51.58;MQ0=0;MQRankSum=0.363;QD=10.32;ReadPosRankSum=-1.514;SB=-2553.13;TI=NM_206933;GI=USH2A;FC=Missense_M3868V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:192,171:363:99:3747,0,4437:0.471:99 chr1 215916563 rs11120616 G A 2204.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DP=201;Dels=0.00;FS=2.439;HRun=1;HaplotypeScore=1.7882;MQ=47.98;MQ0=0;MQRankSum=0.468;QD=10.97;ReadPosRankSum=1.378;SB=-1740.19;TI=NM_206933;GI=USH2A;FC=Missense_T3835I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,106:201:99:2234,0,2074:0.527:99 chr1 215960167 rs10864198 T G 1099.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.196;DP=126;Dels=0.00;FS=0.658;HRun=0;HaplotypeScore=5.8910;MQ=46.73;MQ0=0;MQRankSum=-0.480;QD=8.72;ReadPosRankSum=1.495;SB=-874.54;TI=NM_206933;GI=USH2A;FC=Missense_E3411A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,57:126:99:1129,0,1428:0.452:99 chr1 216172380 rs10864219 A G 2150.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.984;DP=176;Dels=0.00;FS=3.687;HRun=0;HaplotypeScore=6.3640;MQ=48.63;MQ0=0;MQRankSum=-0.169;QD=12.22;ReadPosRankSum=1.992;SB=-1207.06;TI=NM_206933;GI=USH2A;FC=Missense_I2169T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,93:176:99:2181,0,2068:0.528:99 chr1 216219781 rs6657250 A G 701.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.224;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=40.64;MQ0=0;MQRankSum=0.316;QD=9.87;ReadPosRankSum=0.328;SB=-604.15;TI=NM_206933;GI=USH2A;FC=Missense_I2106T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,36:71:99:731,0,690:0.507:99 chr1 216348764 rs1805049 C T 4223.53 PASS AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48.61;MQ0=0;QD=24.13;SB=-3224.45;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Missense_R1486K,Missense_R1486K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,175:175:99:4224,292,0:1.000:99 chr1 216592003 rs4253963 T C 10614.98 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.020;DP=440;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7827;MQ=49.15;MQ0=0;MQRankSum=1.114;QD=24.12;ReadPosRankSum=1.505;SB=-8198.86;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Synonymous_T168T,Synonymous_T168T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,437:440:99:10615,693,0:0.995:99 chr1 216595306 rs10779261 C T 3600.36 PASS AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8625;MQ=47.08;MQ0=0;QD=22.79;SB=-3045.32;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Missense_A125T,Missense_A125T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,158:158:99:3600,244,0:1.000:99 chr1 220323793 . CTT C 281.09 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.581;DP=70;FS=0.000;HRun=20;HaplotypeScore=200.0707;MQ=46.85;MQ0=0;MQRankSum=-0.025;QD=4.02;ReadPosRankSum=0.058;SB=-110.97;TI=NM_012414;GI=RAB3GAP2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,8:70:99:320,0,455:0.200:99 chr1 225607144 rs2230419 C T 3387.97 PASS AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=45.97;MQ0=0;QD=25.10;SB=-2419.41;TI=NM_002296,NM_194442;GI=LBR,LBR;FC=Missense_S154N,Missense_S154N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,135:135:99:3388,238,0:1.000:99 chr1 225609884 rs1056608 A G 6838.70 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.084;DP=276;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=4.7768;MQ=50.05;MQ0=0;MQRankSum=2.156;QD=24.78;ReadPosRankSum=1.952;SB=-4961.89;TI=NM_002296,NM_194442;GI=LBR,LBR;FC=Synonymous_P87P,Synonymous_P87P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,274:276:99:6839,440,0:0.993:99 chr1 225611661 rs1056607 C T 8280.77 PASS AC=2;AF=1.00;AN=2;DP=320;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=48.49;MQ0=0;QD=25.88;SB=-5646.21;TI=NM_002296,NM_194442;GI=LBR,LBR;FC=Synonymous_V39V,Synonymous_V39V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,320:320:99:8281,581,0:1.000:99 chr1 227149203 rs11549708 G A 1138.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.490;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=46.33;MQ0=0;MQRankSum=-1.227;QD=8.63;ReadPosRankSum=-1.761;SB=-804.33;TI=NM_020247;GI=ADCK3;FC=Synonymous_A39A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,56:132:99:1169,0,1600:0.424:99 chr1 227172290 rs12593 C T 1017.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.938;DP=119;Dels=0.00;FS=1.461;HRun=2;HaplotypeScore=4.6543;MQ=46.23;MQ0=0;MQRankSum=-0.126;QD=8.55;ReadPosRankSum=-0.789;SB=-860.35;TI=NM_020247;GI=ADCK3;FC=Synonymous_F480F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,53:119:99:1048,0,1391:0.445:99 chr1 227174210 rs3738725 T C 948.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.860;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8930;MQ=47.16;MQ0=0;MQRankSum=-0.191;QD=8.86;ReadPosRankSum=-0.166;SB=-793.14;TI=NM_020247;GI=ADCK3;FC=Synonymous_S572S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,49:107:99:978,0,1193:0.458:99 chr1 227174823 rs11420839 A AT 398.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.986;DP=31;FS=6.107;HRun=4;HaplotypeScore=12.8541;MQ=56.29;MQ0=0;MQRankSum=3.077;QD=12.85;ReadPosRankSum=-0.589;SB=-82.30;TI=NM_020247;GI=ADCK3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,14:31:99:437,0,489:0.483:99 chr1 227174902 rs8159 G A 47.98 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=23.99;SB=-0.01;TI=NM_020247;GI=ADCK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:79,6,0:1.000:6 chr1 227175245 . C CT 3415.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.702;DP=196;FS=0.000;HRun=3;HaplotypeScore=667.7195;MQ=51.75;MQ0=0;MQRankSum=8.656;QD=17.43;ReadPosRankSum=2.156;SB=-1690.60;TI=NM_020247;GI=ADCK3;FC=Splicing;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,101:196:99:3416,0,2834:0.526:99 chr1 228347352 rs6668719 A G 1523.34 PASS AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=43.27;MQ0=0;QD=23.80;SB=-1209.03;TI=NM_020435;GI=GJC2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,64:64:99:1556,108,0:1.000:99 chr1 235612219 rs7537 T A 1663.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.174;DP=164;Dels=0.00;FS=1.231;HRun=0;HaplotypeScore=1.8606;MQ=49.66;MQ0=0;MQRankSum=-0.497;QD=10.15;ReadPosRankSum=0.747;SB=-1222.31;TI=NM_003193,NM_001079515,NM_152490;GI=TBCE,TBCE,B3GALNT2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:85,79:164:99:1694,0,2030:0.482:99 chr1 235940450 rs2273584 C T 3800.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.321;DP=376;Dels=0.00;FS=1.213;HRun=3;HaplotypeScore=4.5711;MQ=52.82;MQ0=0;MQRankSum=1.996;QD=10.11;ReadPosRankSum=2.810;SB=-2703.43;TI=NM_000081;GI=LYST;FC=Synonymous_K1791K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:198,178:376:99:3800,0,4253:0.473:99 chr1 235945294 rs6696123 T C 6624.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.665;DP=546;Dels=0.00;FS=4.668;HRun=0;HaplotypeScore=15.7279;MQ=52.31;MQ0=0;MQRankSum=2.155;QD=12.13;ReadPosRankSum=0.284;SB=-5212.66;TI=NM_000081;GI=LYST;FC=Synonymous_L1652L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:240,306:546:99:6625,0,5108:0.560:99 chr1 235972435 rs3820553 T C 296.39 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.151;DP=17;Dels=0.00;FS=4.752;HRun=0;HaplotypeScore=0.9997;MQ=53.03;MQ0=0;MQRankSum=1.055;QD=17.43;ReadPosRankSum=-1.457;SB=-137.87;TI=NM_000081;GI=LYST;FC=Synonymous_L561L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,11:17:99:326,0,132:0.647:99 chr1 235972867 rs1063128 T C 1733.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.468;DP=136;Dels=0.00;FS=0.636;HRun=0;HaplotypeScore=2.8936;MQ=52.41;MQ0=0;MQRankSum=2.306;QD=12.75;ReadPosRankSum=-1.790;SB=-1180.72;TI=NM_000081;GI=LYST;FC=Synonymous_Q417Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,75:136:99:1764,0,1489:0.551:99 chr2 26413817 rs1049987 C T 899.70 PASS AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=52.50;MQ0=0;QD=24.32;SB=-673.60;TI=NM_000182;GI=HADHA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,37:37:66.22:933,66,0:1.000:66 chr2 26455127 rs11552518 G A 12795.17 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.575;DP=524;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.9218;MQ=51.09;MQ0=0;MQRankSum=-1.241;QD=24.42;ReadPosRankSum=-1.845;SB=-9371.79;TI=NM_000182;GI=HADHA;FC=Synonymous_Y158Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,520:524:99:12795,810,0:0.992:99 chr2 26467653 rs72809668 C T 688.81 PASS AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=52.03;MQ0=0;QD=22.96;SB=-511.23;TI=NM_000183;GI=HADHB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,30:30:51.16:722,51,0:1.000:51 chr2 26477125 . G GACT 29188.14 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.361;DP=521;FS=0.000;HRun=0;HaplotypeScore=157.8615;MQ=56.20;MQ0=0;MQRankSum=1.855;QD=56.02;ReadPosRankSum=-0.080;SB=-14589.55;TI=NM_000183;GI=HADHB;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:22,499:521:99:29188,1409,0:0.958:99 chr2 26502875 rs1056389 T C 11435.56 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.593;DP=463;Dels=0.00;FS=1.305;HRun=0;HaplotypeScore=4.8714;MQ=50.21;MQ0=0;MQRankSum=-0.096;QD=24.70;ReadPosRankSum=-1.152;SB=-8121.63;TI=NM_000183;GI=HADHB;FC=Synonymous_V275V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:9,453:463:99:11436,614,0:0.981:99 chr2 26512957 rs1056471 G C 3129.00 PASS AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.25;MQ0=0;QD=26.52;SB=-2278.85;TI=NM_000183;GI=HADHB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,118:118:99:3162,223,0:1.000:99 chr2 31750113 . T TA 728.47 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.844;DP=136;FS=2.263;HRun=14;HaplotypeScore=236.4989;MQ=55.80;MQ0=0;MQRankSum=0.278;QD=5.36;ReadPosRankSum=-0.475;SB=-271.19;TI=NM_000348;GI=SRD5A2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,47:136:99:768,0,1225:0.412:99 chr2 31750210 rs28383085 C G 651.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.262;DP=56;Dels=0.00;FS=3.991;HRun=0;HaplotypeScore=0.0000;MQ=50.17;MQ0=0;MQRankSum=1.328;QD=11.64;ReadPosRankSum=0.525;SB=-358.02;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,29:56:99:682,0,698:0.518:99 chr2 31805706 rs523349 G C 3361.44 PASS AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.24;MQ0=0;QD=25.47;SB=-2222.77;TI=NM_000348;GI=SRD5A2;FC=Synonymous_A88A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,132:132:99:3361,238,0:1.000:99 chr2 31805880 . A AG 7214.02 PASS AC=2;AF=1.00;AN=2;DP=186;FS=0.000;HRun=2;HaplotypeScore=118.8206;MQ=59.18;MQ0=0;QD=38.79;SB=-3244.34;TI=NM_000348;GI=SRD5A2;FC=Frameshift;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:9,176:186:99:7214,536,0:0.951:99 chr2 31806031 rs632148 C G 1284.71 PASS AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.85;MQ0=0;QD=23.79;SB=-995.17;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,54:54:90.30:1318,90,0:1.000:90 chr2 44114282 . CA C 78.73 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.652;DP=57;FS=0.000;HRun=21;HaplotypeScore=170.1708;MQ=44.67;MQ0=0;MQRankSum=0.372;QD=1.38;ReadPosRankSum=-1.415;SB=-41.52;TI=NM_133259;GI=LRPPRC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,9:57:99:117,0,324:0.243:78 chr2 44201376 rs4953042 T C 2768.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.872;DP=248;Dels=0.00;FS=0.993;HRun=0;HaplotypeScore=5.7771;MQ=51.74;MQ0=0;MQRankSum=1.120;QD=11.16;ReadPosRankSum=-1.474;SB=-2003.68;TI=NM_133259;GI=LRPPRC;FC=Synonymous_Q356Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:114,131:248:99:2798,0,2416:0.535:99 chr2 44209477 rs6741066 C T 6159.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.121;DP=520;Dels=0.00;FS=2.714;HRun=1;HaplotypeScore=5.6151;MQ=49.71;MQ0=0;MQRankSum=2.457;QD=11.84;ReadPosRankSum=1.684;SB=-4401.29;TI=NM_133259;GI=LRPPRC;FC=Synonymous_Q82Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:243,277:520:99:6159,0,5491:0.533:99 chr2 44223023 . G C 388.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.163;DP=33;Dels=0.00;FS=1.352;HRun=1;HaplotypeScore=1.8664;MQ=45.96;MQ0=0;MQRankSum=-0.090;QD=11.76;ReadPosRankSum=-0.813;SB=-225.27;TI=NM_133259;GI=LRPPRC;FC=Missense_L22V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,18:33:99:418,0,296:0.545:99 chr2 48915871 rs11125179 A G 668.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.148;DP=62;Dels=0.00;FS=0.940;HRun=0;HaplotypeScore=0.0000;MQ=49.40;MQ0=0;MQRankSum=0.134;QD=10.78;ReadPosRankSum=1.627;SB=-465.81;TI=NM_001198593,NM_000233;GI=STON1-GTF2A1L,LHCGR;FC=Silent,Synonymous_D355D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,30:62:99:698,0,700:0.484:99 chr2 48921375 rs2293275 T C 3224.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.543;DP=313;Dels=0.00;FS=0.413;HRun=0;HaplotypeScore=8.3534;MQ=52.68;MQ0=0;MQRankSum=0.429;QD=10.30;ReadPosRankSum=1.186;SB=-2336.06;TI=NM_001198593,NM_000233;GI=STON1-GTF2A1L,LHCGR;FC=Silent,Missense_N312S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:158,154:313:99:3255,0,3601:0.494:99 chr2 61276263 rs1177230 G A 5475.71 PASS AC=2;AF=1.00;AN=2;DP=210;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50.68;MQ0=0;QD=26.07;SB=-3963.19;TI=NM_002618;GI=PEX13;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,210:210:99:5476,385,0:1.000:99 chr2 61276332 . AT A 720.59 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.658;DP=252;FS=4.409;HRun=15;HaplotypeScore=742.1863;MQ=51.36;MQ0=0;MQRankSum=3.849;QD=2.86;ReadPosRankSum=1.744;SB=-326.76;TI=NM_002618;GI=PEX13;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:154,55:252:99:760,0,2901:0.263:99 chr2 61276857 rs56739127 C T 1604.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.483;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=48.97;MQ0=0;MQRankSum=-1.169;QD=11.30;ReadPosRankSum=-0.157;SB=-836.10;TI=NM_002618;GI=PEX13;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,70:142:99:1635,0,1667:0.493:99 chr2 61278052 rs2564097 A G 1213.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.746;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5996;MQ=51.80;MQ0=0;MQRankSum=-0.434;QD=10.83;ReadPosRankSum=1.100;SB=-669.10;TI=NM_002618;GI=PEX13;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,55:112:99:1243,0,1257:0.495:99 chr2 73675227 . T TCTC 480.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.083;DP=26;FS=0.000;HRun=0;HaplotypeScore=1.8583;MQ=53.79;MQ0=0;MQRankSum=1.137;QD=18.46;ReadPosRankSum=-1.414;SB=-204.60;TI=NM_015120;GI=ALMS1;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,10:26:99:519,0,795:0.385:99 chr2 73675669 rs2037814 T G 140.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.123;DP=21;Dels=0.00;FS=4.123;HRun=1;HaplotypeScore=0.9973;MQ=56.35;MQ0=0;MQRankSum=0.326;QD=6.70;ReadPosRankSum=-1.629;SB=-87.56;TI=NM_015120;GI=ALMS1;FC=Missense_V671G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,8:21:99:171,0,307:0.381:99 chr2 73675844 rs7598901 C T 1215.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.678;DP=180;Dels=0.00;FS=0.571;HRun=2;HaplotypeScore=6.4700;MQ=42.80;MQ0=0;MQRankSum=-1.296;QD=6.75;ReadPosRankSum=-1.175;SB=-979.74;TI=NM_015120;GI=ALMS1;FC=Synonymous_F729F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:113,67:180:99:1245,0,2386:0.372:99 chr2 73676745 rs72811915 A G 826.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.091;DP=105;Dels=0.00;FS=0.727;HRun=0;HaplotypeScore=0.8941;MQ=43.78;MQ0=0;MQRankSum=-3.060;QD=7.88;ReadPosRankSum=-0.392;SB=-711.54;TI=NM_015120;GI=ALMS1;FC=Missense_T1030A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,45:105:99:857,0,1275:0.429:99 chr2 73716810 rs3820700 G A 999.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.110;DP=120;Dels=0.00;FS=0.690;HRun=1;HaplotypeScore=1.7882;MQ=44.73;MQ0=0;MQRankSum=-0.518;QD=8.33;ReadPosRankSum=1.585;SB=-802.32;TI=NM_015120;GI=ALMS1;FC=Missense_S2574N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,53:120:99:1029,0,1421:0.442:99 chr2 73717103 rs2017116 G C 1730.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.366;DP=178;Dels=0.00;FS=0.562;HRun=1;HaplotypeScore=2.6548;MQ=56.67;MQ0=0;MQRankSum=2.442;QD=9.72;ReadPosRankSum=-0.690;SB=-1126.50;TI=NM_015120;GI=ALMS1;FC=Missense_D2672H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:102,76:178:99:1761,0,2367:0.427:99 chr2 73828538 rs1052161 G A 320.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.258;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=41.58;MQ0=0;MQRankSum=0.139;QD=10.34;ReadPosRankSum=0.298;SB=-269.41;TI=NM_015120;GI=ALMS1;FC=Missense_R4029K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,17:31:99:351,0,265:0.548:99 chr2 74185876 rs4777 A T 4877.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.592;DP=518;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2517;MQ=47.88;MQ0=0;MQRankSum=-4.270;QD=9.42;ReadPosRankSum=-3.744;SB=-3872.13;TI=NM_080916,NM_080918;GI=DGUOK,DGUOK;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:281,237:518:99:4877,0,6132:0.458:99 chr2 84650707 rs2832;rs11555949 A G 7777.75 PASS AC=2;AF=1.00;AN=2;DP=336;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5484;MQ=49.44;MQ0=0;QD=23.15;SB=-6620.25;TI=NM_003849;GI=SUCLG1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,336:336:99:7778,530,0:1.000:99 chr2 85893741 rs1130866 G A 534.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.554;DP=75;Dels=0.00;FS=0.899;HRun=1;HaplotypeScore=3.6796;MQ=47.17;MQ0=0;MQRankSum=0.952;QD=7.12;ReadPosRankSum=1.107;SB=-440.86;TI=NM_000542,NM_198843;GI=SFTPB,SFTPB;FC=Missense_T143I,Missense_T143I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,29:75:99:564,0,936:0.392:99 chr2 85895338 rs2077079 T G 1323.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.206;DP=104;Dels=0.00;FS=0.750;HRun=2;HaplotypeScore=0.8941;MQ=45.61;MQ0=0;MQRankSum=-3.077;QD=12.73;ReadPosRankSum=-1.273;SB=-1046.18;TI=NM_000542,NM_198843;GI=SFTPB,SFTPB;FC=Missense_H2P,Missense_H2P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,64:104:99:1354,0,781:0.615:99 chr2 86088311 rs3731824 T C 2926.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.814;DP=254;Dels=0.00;FS=0.459;HRun=0;HaplotypeScore=1.7882;MQ=47.94;MQ0=0;MQRankSum=-0.593;QD=11.52;ReadPosRankSum=-0.563;SB=-2271.60;TI=NM_003896,NM_001042437;GI=ST3GAL5,ST3GAL5;FC=Missense_H104R,Missense_H81R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:118,136:254:99:2956,0,2350:0.535:99 chr2 88874891 rs1805165 C A 2344.60 PASS AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=48.20;MQ0=0;QD=23.45;SB=-1906.94;TI=NM_004836;GI=EIF2AK3;FC=Missense_A704S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,99:100:99:2378,163,0:1.000:99 chr2 88879131 rs1805164 T C 7840.52 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.721;DP=322;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=52.02;MQ0=0;MQRankSum=0.243;QD=24.35;ReadPosRankSum=1.430;SB=-5718.70;TI=NM_004836;GI=EIF2AK3;FC=Synonymous_Q597Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,320:322:99:7841,539,0:0.997:99 chr2 88895123 rs13045 T C 6735.35 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.327;DP=265;Dels=0.00;FS=3.372;HRun=0;HaplotypeScore=3.7874;MQ=49.97;MQ0=0;MQRankSum=-0.778;QD=25.42;ReadPosRankSum=-0.333;SB=-4735.36;TI=NM_004836;GI=EIF2AK3;FC=Missense_Q166R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,264:265:99:6735,438,0:0.996:99 chr2 88926729 rs72416210 CCAG C 2243.10 PASS AC=2;AF=1.00;AN=2;DP=49;FS=0.000;HRun=0;HaplotypeScore=24.9816;MQ=40.27;MQ0=0;QD=45.78;SB=-1116.53;TI=NM_004836;GI=EIF2AK3;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,43:49:99:2285,135,0:0.915:99 chr2 113875509 rs2234677 G A 604.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.311;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.09;MQ0=0;MQRankSum=1.044;QD=11.63;ReadPosRankSum=-0.330;SB=-372.93;TI=NM_000577,NM_173841,NM_173843;GI=IL1RN,IL1RN,IL1RN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,27:52:99:635,0,521:0.519:99 chr2 113875565 rs2234678 A G 927.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.021;DP=100;Dels=0.00;FS=0.743;HRun=1;HaplotypeScore=0.8941;MQ=48.48;MQ0=0;MQRankSum=2.286;QD=9.28;ReadPosRankSum=1.012;SB=-699.94;TI=NM_000577,NM_173841,NM_173843;GI=IL1RN,IL1RN,IL1RN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,45:100:99:958,0,1116:0.450:99 chr2 113875584 rs2234679 G C 1350.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.939;DP=157;Dels=0.00;FS=0.601;HRun=0;HaplotypeScore=0.9867;MQ=47.58;MQ0=0;MQRankSum=1.318;QD=8.60;ReadPosRankSum=1.989;SB=-1027.30;TI=NM_000577,NM_173841,NM_173843;GI=IL1RN,IL1RN,IL1RN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:90,67:157:99:1381,0,1991:0.427:99 chr2 113887207 rs419598 T C 4116.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.892;DP=458;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.3358;MQ=49.24;MQ0=0;MQRankSum=-0.364;QD=8.99;ReadPosRankSum=2.384;SB=-3368.39;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 0/1:248,209:458:99:4116,0,5034:0.457:99 chr2 113890304 rs315952 T C 1110.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.044;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=43.30;MQ0=0;MQRankSum=-0.480;QD=11.45;ReadPosRankSum=2.122;SB=-955.55;TI=NM_000577,NM_173841,NM_173843,NM_173842;GI=IL1RN,IL1RN,IL1RN,IL1RN;FC=Synonymous_S112S,Synonymous_S133S,Synonymous_S96S,Synonymous_S130S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,57:97:99:1141,0,781:0.588:99 chr2 113891412 rs9005 G A 841.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.459;DP=72;Dels=0.00;FS=1.975;HRun=0;HaplotypeScore=2.8935;MQ=47.62;MQ0=0;MQRankSum=0.482;QD=11.69;ReadPosRankSum=-2.193;SB=-648.12;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 0/1:32,40:72:99:872,0,665:0.556:99 chr2 128014913 rs1803541 C T 1600.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.387;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9904;MQ=52.43;MQ0=0;MQRankSum=1.274;QD=12.22;ReadPosRankSum=0.830;SB=-1206.49;TI=NM_000122;GI=ERCC3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,77:131:99:1630,0,1117:0.588:99 chr2 135927544 . TA T 363.98 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.651;DP=64;FS=1.112;HRun=15;HaplotypeScore=105.6067;MQ=50.79;MQ0=0;MQRankSum=0.665;QD=5.69;ReadPosRankSum=-1.290;SB=-131.02;TI=NM_001172435,NM_012233;GI=RAB3GAP1,RAB3GAP1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,21:64:99:403,0,455:0.368:99 chr2 152346979 rs1061305 T C 614.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.186;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8928;MQ=48.05;MQ0=0;MQRankSum=-0.834;QD=8.09;ReadPosRankSum=-2.758;SB=-448.21;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_I6534V,Missense_I8402V,Missense_I8402V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,30:76:99:644,0,937:0.395:99 chr2 152352843 rs7575451 C G 9090.05 PASS AC=2;AF=1.00;AN=2;DP=328;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=50.81;MQ0=5;QD=27.71;SB=-6014.89;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 1/1:0,328:328:99:9090,650,0:1.000:99 chr2 152387553 rs4664475 T C 4393.09 PASS AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8933;MQ=45.37;MQ0=0;QD=24.68;SB=-3110.22;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 1/1:0,178:178:99:4393,304,0:1.000:99 chr2 152422076 rs2288210 C G 7975.08 PASS AC=2;AF=1.00;AN=2;DP=338;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7041;MQ=50.42;MQ0=0;QD=23.59;SB=-6557.93;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 1/1:0,338:338:99:7975,545,0:1.000:99 chr2 152422087 rs2288211 A G 7466.63 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.520;DP=322;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.6724;MQ=50.45;MQ0=0;MQRankSum=-0.712;QD=23.19;ReadPosRankSum=0.857;SB=-6196.80;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 1/1:2,320:322:99:7467,470,0:0.994:99 chr2 152436012 rs62174690 T G 396.14 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-0.676;DP=321;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8759;MQ=8.20;MQ0=281;MQRankSum=0.980;QD=1.23;ReadPosRankSum=-0.235;SB=-231.80;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 0/1:274,47:321:99:426,0,214:0.146:99 chr2 152459116 rs71415153 G A 22.14 LowVariantFreq;LowGQ;LowGQX;SB AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=3.36;MQ0=171;QD=0.12;SB=-0.01;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Silent,Synonymous_A4451A,Synonymous_A4451A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:156,22:178:6:53,6,0:0.124:6 chr2 152490219 rs6709886 A G 2122.57 PASS AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8939;MQ=42.10;MQ0=0;QD=23.85;SB=-1474.72;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 1/1:0,88:89:99:2156,150,0:1.000:99 chr2 152490458 rs6710212 A G 1117.61 PASS AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=53.61;MQ0=0;QD=25.99;SB=-709.00;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 1/1:0,43:43:81.27:1151,81,0:1.000:81 chr2 152500449 rs13013209 C G 1706.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.100;DP=150;Dels=0.00;FS=0.606;HRun=0;HaplotypeScore=2.8936;MQ=43.77;MQ0=0;MQRankSum=-0.971;QD=11.38;ReadPosRankSum=0.138;SB=-1359.38;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 0/1:66,84:150:99:1737,0,1341:0.560:99 chr2 152527572 rs7426114 C T 4625.92 PASS AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=45.96;MQ0=0;QD=24.09;SB=-3466.96;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 1/1:0,192:192:99:4626,319,0:1.000:99 chr2 152531077 rs6711382 A G 4950.81 PASS AC=2;AF=1.00;AN=2;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.39;MQ0=0;QD=24.63;SB=-3860.66;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 1/1:0,201:201:99:4951,343,0:1.000:99 chr2 152536498 rs6735208 T A 7507.37 PASS AC=2;AF=1.00;AN=2;DP=286;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5707;MQ=53.35;MQ0=0;QD=26.25;SB=-4429.39;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 1/1:0,285:286:99:7507,536,0:1.000:99 chr2 152573981 rs4611637 A G 8648.83 PASS AC=2;AF=1.00;AN=2;DP=312;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.6276;MQ=50.52;MQ0=0;QD=27.72;SB=-6100.81;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 1/1:0,312:312:99:8649,623,0:1.000:99 chr2 169830328 rs2287622 A G 2635.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.030;DP=244;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.8342;MQ=47.90;MQ0=0;MQRankSum=1.190;QD=10.80;ReadPosRankSum=-0.087;SB=-2130.33;TI=NM_003742;GI=ABCB11;FC=Missense_V444A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:115,129:244:99:2665,0,2294:0.529:99 chr2 169984262 . A AT 1389.77 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.599;DP=219;FS=0.506;HRun=12;HaplotypeScore=309.8978;MQ=55.44;MQ0=0;MQRankSum=1.692;QD=6.35;ReadPosRankSum=-0.019;SB=-625.36;TI=NM_004525;GI=LRP2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:111,74:219:99:1429,0,2244:0.400:99 chr2 169997051 rs990626 G A 1072.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.350;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8808;MQ=47.94;MQ0=0;MQRankSum=-2.782;QD=9.57;ReadPosRankSum=-1.147;SB=-860.95;TI=NM_004525;GI=LRP2;FC=Synonymous_I4371I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,55:112:99:1102,0,1214:0.491:99 chr2 170003432 rs4667591 T G 9507.01 PASS AC=2;AF=1.00;AN=2;DP=373;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3861;MQ=48.91;MQ0=0;QD=25.49;SB=-6239.92;TI=NM_004525;GI=LRP2;FC=Missense_I4210L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,373:373:99:9507,662,0:1.000:99 chr2 170010985 rs2075252 T C 5079.16 PASS AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=51.96;MQ0=0;QD=26.87;SB=-3469.64;TI=NM_004525;GI=LRP2;FC=Missense_K4094E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,189:189:99:5079,361,0:1.000:99 chr2 170025083 rs2229268 A G 1501.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.661;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7592;MQ=45.92;MQ0=0;MQRankSum=-0.788;QD=8.78;ReadPosRankSum=0.483;SB=-1180.76;TI=NM_004525;GI=LRP2;FC=Synonymous_C3867C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,76:171:99:1532,0,2074:0.444:99 chr2 170032989 rs2229265 C T 1028.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.184;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=44.87;MQ0=0;MQRankSum=-1.442;QD=11.43;ReadPosRankSum=-1.107;SB=-894.80;TI=NM_004525;GI=LRP2;FC=Synonymous_Q3501Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,52:90:99:1058,0,746:0.578:99 chr2 170070348 rs11886219 T C 1603.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.972;DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8715;MQ=48.76;MQ0=0;MQRankSum=-0.769;QD=8.02;ReadPosRankSum=-1.103;SB=-1348.14;TI=NM_004525;GI=LRP2;FC=Synonymous_R1953R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:116,84:200:99:1633,0,2342:0.420:99 chr2 170088351 rs2302694 G A 2343.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.516;DP=335;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=48.06;MQ0=0;MQRankSum=-3.521;QD=6.99;ReadPosRankSum=-0.052;SB=-1913.69;TI=NM_004525;GI=LRP2;FC=Unknown_1700;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:210,125:335:99:2373,0,4318:0.373:99 chr2 170092395 rs2229267 A G 1748.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.865;DP=165;Dels=0.00;FS=0.570;HRun=0;HaplotypeScore=5.3645;MQ=46.84;MQ0=0;MQRankSum=-2.049;QD=10.59;ReadPosRankSum=3.108;SB=-1332.19;TI=NM_004525;GI=LRP2;FC=Synonymous_C1625C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:81,84:165:99:1778,0,1666:0.509:99 chr2 170099473 rs831042 T C 1637.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.859;DP=201;Dels=0.00;FS=2.499;HRun=2;HaplotypeScore=3.5764;MQ=46.98;MQ0=0;MQRankSum=-0.787;QD=8.15;ReadPosRankSum=-0.975;SB=-1054.89;TI=NM_004525;GI=LRP2;FC=Synonymous_A1220A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:120,81:201:99:1667,0,2591:0.403:99 chr2 170103336 rs831043 T C 2082.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.721;DP=206;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2823;MQ=45.25;MQ0=0;MQRankSum=0.171;QD=10.11;ReadPosRankSum=2.878;SB=-1754.67;TI=NM_004525;GI=LRP2;FC=Synonymous_T1023T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:101,105:206:99:2113,0,2044:0.510:99 chr2 170103351 rs2075249 G T 1926.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DP=158;Dels=0.00;FS=0.599;HRun=2;HaplotypeScore=4.4922;MQ=47.47;MQ0=0;MQRankSum=1.584;QD=12.19;ReadPosRankSum=0.689;SB=-1592.12;TI=NM_004525;GI=LRP2;FC=Synonymous_T1018T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,95:158:99:1957,0,1248:0.601:99 chr2 170115588 rs2241190 T C 3100.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.588;DP=285;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1208;MQ=48.05;MQ0=0;MQRankSum=1.044;QD=10.88;ReadPosRankSum=-0.466;SB=-2183.98;TI=NM_004525;GI=LRP2;FC=Synonymous_T820T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:143,142:285:99:3131,0,3156:0.498:99 chr2 170115672 rs33954745 A G 5112.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.537;DP=455;Dels=0.00;FS=1.536;HRun=0;HaplotypeScore=7.4623;MQ=51.63;MQ0=0;MQRankSum=1.685;QD=11.24;ReadPosRankSum=-2.669;SB=-3137.52;TI=NM_004525;GI=LRP2;FC=Synonymous_D792D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:229,226:455:99:5113,0,5196:0.497:99 chr2 170129528 rs830994 G A 2004.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.3613;MQ=46.41;MQ0=0;MQRankSum=1.175;QD=10.44;ReadPosRankSum=1.762;SB=-1609.15;TI=NM_004525;GI=LRP2;FC=Synonymous_V675V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,100:192:99:2034,0,1805:0.524:99 chr2 170218847 rs1559014 C G 3740.49 PASS AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.2469;MQ=43.23;MQ0=0;QD=23.82;SB=-2789.72;TI=NM_004525;GI=LRP2;FC=Synonymous_A21A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,157:157:99:3740,262,0:1.000:99 chr2 173339808 rs11895564 G A 11689.65 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.457;DP=503;Dels=0.00;FS=3.045;HRun=0;HaplotypeScore=13.4010;MQ=51.38;MQ0=0;MQRankSum=-0.300;QD=23.24;ReadPosRankSum=-1.491;SB=-9832.98;TI=NM_001079818,NM_000210;GI=ITGA6,ITGA6;FC=Missense_A380T,Missense_A380T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,502:503:99:11690,764,0:0.998:99 chr2 173352103 rs2293649 C T 3055.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.503;DP=273;Dels=0.00;FS=0.935;HRun=0;HaplotypeScore=5.5759;MQ=51.16;MQ0=0;MQRankSum=0.191;QD=11.19;ReadPosRankSum=2.118;SB=-1913.39;TI=NM_001079818,NM_000210;GI=ITGA6,ITGA6;FC=Synonymous_D694D,Synonymous_D694D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:134,139:273:99:3085,0,2982:0.509:99 chr2 173369000 rs61499296 A AT 2406.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.238;DP=141;FS=1.334;HRun=0;HaplotypeScore=235.5309;MQ=55.42;MQ0=0;MQRankSum=2.069;QD=17.07;ReadPosRankSum=0.563;SB=-1194.21;TI=NM_001079818,NM_000210;GI=ITGA6,ITGA6;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,55:141:99:2446,0,1738:0.407:99 chr2 173369231 rs17664 A G 7359.82 PASS AC=2;AF=1.00;AN=2;DP=318;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=49.76;MQ0=0;QD=23.14;SB=-6169.80;TI=NM_001079818,NM_000210;GI=ITGA6,ITGA6;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,318:318:99:7360,500,0:1.000:99 chr2 178404735 . T TAAAG 10175.81 PASS AC=2;AF=1.00;AN=2;DP=148;FS=0.000;HRun=0;HaplotypeScore=70.4193;MQ=53.47;MQ0=1;QD=68.76;SB=-4801.76;TI=NM_003659;GI=AGPS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,146:147:99:10176,443,0:1.000:99 chr2 178404807 . A G 47.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.349;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.6821;MQ=40.91;MQ0=0;MQRankSum=0.611;QD=2.39;ReadPosRankSum=-0.262;SB=-50.72;TI=NM_003659;GI=AGPS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,5:20:77.84:78,0,395:0.250:47 chr2 178406481 rs8941 C T 5591.24 PASS AC=2;AF=1.00;AN=2;DP=221;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=50.30;MQ0=0;QD=25.30;SB=-4260.05;TI=NM_003659;GI=AGPS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,221:221:99:5591,388,0:1.000:99 chr2 178406769 rs5836610 A AT 2255.79 PASS AC=2;AF=1.00;AN=2;DP=80;FS=0.000;HRun=8;HaplotypeScore=37.6950;MQ=59.42;MQ0=0;QD=28.20;SB=-690.52;TI=NM_003659;GI=AGPS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,74:80:99:2298,225,0:0.937:99 chr2 178407176 rs10803912 C A 3111.35 PASS AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=51.60;MQ0=0;QD=26.15;SB=-1835.20;TI=NM_003659;GI=AGPS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,118:119:99:3144,223,0:1.000:99 chr2 178407897 rs2293475 T C 1650.15 PASS AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.84;MQ0=0;QD=22.60;SB=-1416.43;TI=NM_003659;GI=AGPS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,73:73:99:1683,114,0:1.000:99 chr2 191161622 rs1058180 T C 9633.56 PASS AC=2;AF=1.00;AN=2;DP=369;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.4618;MQ=49.65;MQ0=0;QD=26.11;SB=-7105.28;TI=NM_198047,NM_014362;GI=HIBCH,HIBCH;FC=Missense_T46A,Missense_T46A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,369:369:99:9634,674,0:1.000:99 chr2 191184475 rs291466 A G 5074.65 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.779;DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8661;MQ=42.46;MQ0=0;MQRankSum=-1.302;QD=23.49;ReadPosRankSum=1.063;SB=-4026.69;TI=NM_198047,NM_014362;GI=HIBCH,HIBCH;FC=Missense_M1T,Missense_M1T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,214:216:99:5075,310,0:0.991:99 chr2 191184524 rs3749022 C T 4167.22 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.451;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8885;MQ=45.37;MQ0=0;MQRankSum=-0.049;QD=23.54;ReadPosRankSum=-0.201;SB=-3369.61;TI=NM_198047,NM_014362;GI=HIBCH,HIBCH;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,175:177:99:4167,247,0:0.989:99 chr2 191840352 rs3215258 CT C 3624.06 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.345;DP=416;FS=0.412;HRun=15;HaplotypeScore=935.5530;MQ=47.45;MQ0=0;MQRankSum=1.729;QD=8.71;ReadPosRankSum=-0.633;SB=-1287.88;TI=NM_007315,NM_139266;GI=STAT1,STAT1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:165,149:416:99:3624,0,1700:0.475:99 chr2 191874667 rs2066802 A G 3837.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.838;DP=384;Dels=0.00;FS=2.685;HRun=0;HaplotypeScore=3.7876;MQ=49.26;MQ0=0;MQRankSum=-0.817;QD=9.99;ReadPosRankSum=-0.715;SB=-2918.72;TI=NM_007315,NM_139266;GI=STAT1,STAT1;FC=Synonymous_L21L,Synonymous_L21L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:202,182:384:99:3837,0,4245:0.474:99 chr2 202050677 rs3900115 A G 736.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.156;DP=73;Dels=0.00;FS=3.177;HRun=1;HaplotypeScore=1.9995;MQ=51.80;MQ0=0;MQRankSum=-0.171;QD=10.09;ReadPosRankSum=1.299;SB=-419.56;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 0/1:39,34:73:99:766,0,886:0.466:99 chr2 202575821 rs3219168 G A 8993.89 PASS AC=2;AF=1.00;AN=2;DP=365;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=49.10;MQ0=0;QD=24.64;SB=-7001.42;TI=NM_020919;GI=ALS2;FC=Synonymous_L1339L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,365:365:99:8994,620,0:1.000:99 chr2 202598113 rs2276615 C T 8151.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.413;DP=725;Dels=0.00;FS=2.599;HRun=2;HaplotypeScore=19.4532;MQ=53.60;MQ0=0;MQRankSum=4.050;QD=11.24;ReadPosRankSum=0.555;SB=-5769.60;TI=NM_020919;GI=ALS2;FC=Synonymous_V822V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:364,360:725:99:8151,0,8162:0.497:99 chr2 202625615 rs3219156 C T 1260.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.155;DP=141;Dels=0.00;FS=0.626;HRun=1;HaplotypeScore=4.6817;MQ=41.63;MQ0=0;MQRankSum=0.668;QD=8.94;ReadPosRankSum=0.065;SB=-980.55;TI=NM_020919,NM_001135745;GI=ALS2,ALS2;FC=Missense_V368M,Missense_V368M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,61:141:99:1291,0,1696:0.433:99 chr2 204824324 rs10183087 A C 1485.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.634;DP=116;Dels=0.00;FS=1.545;HRun=0;HaplotypeScore=2.6823;MQ=51.63;MQ0=0;MQRankSum=3.565;QD=12.80;ReadPosRankSum=2.182;SB=-1162.15;TI=NM_012092;GI=ICOS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,72:116:99:1515,0,908:0.621:99 chr2 204825286 rs4404254 T C 1166.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.327;DP=108;Dels=0.00;FS=0.787;HRun=0;HaplotypeScore=0.0000;MQ=55.72;MQ0=0;MQRankSum=-1.253;QD=10.80;ReadPosRankSum=-0.716;SB=-461.25;TI=NM_012092;GI=ICOS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,49:108:99:1196,0,1509:0.454:99 chr2 204825729 rs1559931 G A 1423.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.112;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=49.15;MQ0=0;MQRankSum=-0.412;QD=11.03;ReadPosRankSum=0.493;SB=-1022.61;TI=NM_012092;GI=ICOS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,64:129:99:1453,0,1309:0.500:99 chr2 204826095 rs4675379 G C 89.27 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=40.21;MQ0=0;MQRankSum=-1.422;QD=9.92;ReadPosRankSum=-1.203;SB=-104.97;TI=NM_012092;GI=ICOS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,6:9:70.37:119,0,70:0.667:70 chr2 207630338 rs3762567 C T 479.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.194;DP=81;Dels=0.00;FS=5.046;HRun=1;HaplotypeScore=2.8662;MQ=51.42;MQ0=0;MQRankSum=1.953;QD=5.92;ReadPosRankSum=0.738;SB=-177.25;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,23:81:99:509,0,1227:0.284:99 chr2 207657153 rs1048783 T C 1740.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.732;DP=181;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.6147;MQ=48.63;MQ0=0;MQRankSum=-3.298;QD=9.62;ReadPosRankSum=-1.331;SB=-1276.65;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,83:181:99:1770,0,2125:0.459:99 chr2 207657741 . 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_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;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 chr2 207657972 . A C 173.34 SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.111;DP=31;Dels=0.00;FS=27.139;HRun=0;HaplotypeScore=17.5935;MQ=28.97;MQ0=0;MQRankSum=-0.457;QD=5.59;ReadPosRankSum=2.763;SB=-0.01;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,9:31:99:203,0,561:0.290:99 chr2 207657976 . T A 607.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.667;DP=34;Dels=0.03;FS=13.532;HRun=31;HaplotypeScore=20.3525;MQ=30.85;MQ0=0;MQRankSum=-0.586;QD=17.87;ReadPosRankSum=-1.112;SB=-309.35;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,24:33:99:637,0,177:0.727:99 chr2 207657978 . C A 206.59 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.241;DP=34;Dels=0.03;FS=52.985;HRun=5;HaplotypeScore=27.1032;MQ=30.85;MQ0=0;MQRankSum=-0.783;QD=6.08;ReadPosRankSum=-2.196;SB=-0.01;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,11:33:99:237,0,550:0.333:99 chr2 207659760 rs5838044 G GT 1233.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.094;DP=70;FS=0.908;HRun=0;HaplotypeScore=43.0490;MQ=52.90;MQ0=0;MQRankSum=5.036;QD=17.62;ReadPosRankSum=-0.577;SB=-614.35;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,32:70:99:1272,0,1470:0.457:99 chr2 211060050 rs2286963 T G 1284.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.238;DP=141;Dels=0.00;FS=0.633;HRun=0;HaplotypeScore=3.5764;MQ=46.61;MQ0=0;MQRankSum=-0.782;QD=9.11;ReadPosRankSum=0.330;SB=-971.07;TI=NM_001608;GI=ACADL;FC=Missense_K333Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,63:141:99:1314,0,1672:0.447:99 chr2 211421452 rs3835047 A ATCT 10469.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.356;DP=374;FS=2.187;HRun=0;HaplotypeScore=148.4138;MQ=56.29;MQ0=0;MQRankSum=5.844;QD=27.99;ReadPosRankSum=1.552;SB=-5187.70;TI=NM_001122633,NM_001875;GI=CPS1,CPS1;FC=1AA_Insertion,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:183,191:374:99:10470,0,9672:0.511:99 chr2 211456637 rs1047883 A G 2860.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.645;DP=255;Dels=0.00;FS=0.968;HRun=0;HaplotypeScore=8.7615;MQ=50.39;MQ0=0;MQRankSum=-0.263;QD=11.22;ReadPosRankSum=-0.704;SB=-2098.88;TI=NM_001122633,NM_001875;GI=CPS1,CPS1;FC=Missense_T350A,Missense_T344A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:123,132:255:99:2891,0,2625:0.518:99 chr2 211456639 rs2229589 C T 2987.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.241;DP=258;Dels=0.00;FS=0.964;HRun=0;HaplotypeScore=8.7615;MQ=50.17;MQ0=0;MQRankSum=0.725;QD=11.58;ReadPosRankSum=-1.219;SB=-2184.57;TI=NM_001122633,NM_001875;GI=CPS1,CPS1;FC=Synonymous_T350T,Synonymous_T344T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:120,136:258:99:3018,0,2452:0.531:99 chr2 211481257 rs2287599 C G 1934.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DP=205;Dels=0.00;FS=0.517;HRun=2;HaplotypeScore=5.6748;MQ=46.01;MQ0=0;MQRankSum=-1.866;QD=9.44;ReadPosRankSum=-1.325;SB=-1452.99;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 0/1:108,96:205:99:1965,0,2313:0.471:99 chr2 211540507 rs1047891 C A 2087.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.424;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=50.56;MQ0=0;MQRankSum=-0.273;QD=13.38;ReadPosRankSum=1.359;SB=-1558.62;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 0/1:65,91:156:99:2117,0,1541:0.583:99 chr2 211543055 rs715 T C 1507.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.224;DP=145;Dels=0.00;FS=0.622;HRun=1;HaplotypeScore=3.8935;MQ=52.48;MQ0=0;MQRankSum=2.619;QD=10.39;ReadPosRankSum=-0.394;SB=-1040.38;TI=NM_001122633,NM_001875,NM_001122634;GI=CPS1,CPS1,CPS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,69:145:99:1537,0,1607:0.476:99 chr2 211543147 rs7684 T G 2223.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.130;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7829;MQ=52.08;MQ0=0;MQRankSum=1.373;QD=11.06;ReadPosRankSum=-1.288;SB=-1787.41;TI=NM_001122633,NM_001875,NM_001122634;GI=CPS1,CPS1,CPS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:96,105:201:99:2254,0,1956:0.522:99 chr2 211543401 rs12476133 C G 157.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.265;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.16;MQ0=0;MQRankSum=-0.038;QD=7.89;ReadPosRankSum=0.794;SB=-172.50;TI=NM_001122633,NM_001875,NM_001122634;GI=CPS1,CPS1,CPS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,10:20:99:188,0,260:0.500:99 chr2 215796302 rs71399158 G GACAA 5780.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.164;DP=234;FS=1.599;HRun=0;HaplotypeScore=51.4464;MQ=54.12;MQ0=0;MQRankSum=5.064;QD=24.70;ReadPosRankSum=2.876;SB=-2881.31;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:135,99:234:99:5781,0,7831:0.423:99 chr2 215796568 rs12694349 T C 2414.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.246;DP=252;Dels=0.00;FS=2.787;HRun=0;HaplotypeScore=6.3612;MQ=50.53;MQ0=0;MQRankSum=0.425;QD=9.58;ReadPosRankSum=0.400;SB=-1640.99;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:138,114:252:99:2444,0,2798:0.452:99 chr2 215797332 rs17426207 C T 751.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.259;DP=50;Dels=0.00;FS=2.441;HRun=0;HaplotypeScore=5.6140;MQ=52.03;MQ0=0;MQRankSum=0.859;QD=15.04;ReadPosRankSum=0.720;SB=-524.75;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,31:50:99:782,0,446:0.620:99 chr2 215820013 rs10498027 G A 4030.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.338;DP=406;Dels=0.00;FS=0.746;HRun=0;HaplotypeScore=3.8869;MQ=48.38;MQ0=0;MQRankSum=0.505;QD=9.93;ReadPosRankSum=0.688;SB=-2946.96;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Synonymous_Y1784Y,Synonymous_Y2102Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:217,189:406:99:4030,0,4630:0.466:99 chr2 215876166 rs7560008 A T 8447.25 PASS AC=2;AF=1.00;AN=2;DP=315;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6818;MQ=51.00;MQ0=0;QD=26.82;SB=-4958.96;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Missense_S459T,Missense_S777T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,314:315:99:8447,596,0:1.000:99 chr2 219646547 rs11375701 A AC 5048.32 PASS AC=2;AF=1.00;AN=2;DP=131;FS=0.000;HRun=2;HaplotypeScore=92.4780;MQ=58.34;MQ0=0;QD=38.54;SB=-2450.88;TI=NM_000784;GI=CYP27A1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,125:131:99:5048,384,0:0.969:99 chr2 219940484 rs359960 C T 2213.49 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.046;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.03;MQ0=0;MQRankSum=0.278;QD=23.80;ReadPosRankSum=-1.311;SB=-1501.71;TI=NM_024782;GI=NHEJ1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,91:93:99:2246,118,0:0.978:99 chr2 219941063 rs897477 G A 1586.13 PASS AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=49.77;MQ0=0;QD=23.33;SB=-1242.90;TI=NM_024782;GI=NHEJ1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,68:68:99:1619,111,0:1.000:99 chr2 227867439 rs1054415 G C 690.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.279;DP=89;Dels=0.00;FS=0.828;HRun=0;HaplotypeScore=2.6823;MQ=54.22;MQ0=0;MQRankSum=0.853;QD=7.76;ReadPosRankSum=-0.614;SB=-498.40;TI=NM_000092;GI=COL4A4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,35:89:99:721,0,1193:0.398:99 chr2 227869920 rs77029370 GT G 238.54 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.211;DP=97;FS=0.000;HRun=12;HaplotypeScore=134.9208;MQ=53.43;MQ0=0;MQRankSum=1.644;QD=2.46;ReadPosRankSum=-0.354;SB=-91.84;TI=NM_000092;GI=COL4A4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,19:97:99:278,0,1623:0.213:99 chr2 227871797 rs56196639 G A 735.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.698;DP=63;Dels=0.00;FS=3.468;HRun=1;HaplotypeScore=0.9995;MQ=57.59;MQ0=0;MQRankSum=0.502;QD=11.67;ReadPosRankSum=-2.908;SB=-402.01;TI=NM_000092;GI=COL4A4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,32:63:99:765,0,735:0.508:99 chr2 227872995 rs2228555 T C 779.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.240;DP=56;Dels=0.00;FS=1.064;HRun=0;HaplotypeScore=2.8936;MQ=46.54;MQ0=0;MQRankSum=-0.487;QD=13.92;ReadPosRankSum=-1.069;SB=-555.56;TI=NM_000092;GI=COL4A4;FC=Synonymous_V1516V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,36:56:99:809,0,354:0.643:99 chr2 227875202 rs72969704 A G 675.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.649;DP=77;Dels=0.00;FS=0.870;HRun=0;HaplotypeScore=1.8614;MQ=46.07;MQ0=0;MQRankSum=-0.301;QD=8.77;ReadPosRankSum=1.833;SB=-586.09;TI=NM_000092;GI=COL4A4;FC=Missense_I1450T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,36:77:99:705,0,801:0.468:99 chr2 227915832 rs1800517 G A 1224.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.916;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8937;MQ=45.39;MQ0=0;MQRankSum=-0.629;QD=10.84;ReadPosRankSum=-0.026;SB=-945.71;TI=NM_000092;GI=COL4A4;FC=Missense_P1004L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,58:113:99:1255,0,1112:0.513:99 chr2 227954599 rs2229814 G A 3782.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.127;DP=426;Dels=0.00;FS=2.064;HRun=0;HaplotypeScore=8.7761;MQ=47.31;MQ0=0;MQRankSum=1.619;QD=8.88;ReadPosRankSum=0.803;SB=-2888.43;TI=NM_000092;GI=COL4A4;FC=Missense_P482S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:228,198:426:99:3782,0,4697:0.465:99 chr2 228111435 rs10178458 T C 1189.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.268;DP=128;Dels=0.00;FS=1.400;HRun=1;HaplotypeScore=3.7878;MQ=45.79;MQ0=0;MQRankSum=-1.989;QD=9.29;ReadPosRankSum=2.070;SB=-926.05;TI=NM_000091;GI=COL4A3;FC=Missense_L141P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,59:128:99:1219,0,1481:0.461:99 chr2 228113175 rs6436669 A G 2211.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.878;DP=224;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.3507;MQ=52.24;MQ0=0;MQRankSum=-1.042;QD=9.87;ReadPosRankSum=-2.349;SB=-1330.03;TI=NM_000091;GI=COL4A3;FC=Missense_E162G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:126,98:224:99:2241,0,3012:0.438:99 chr2 228128540 rs10205042 C T 6033.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.641;DP=228;Dels=0.00;FS=3.960;HRun=1;HaplotypeScore=3.5764;MQ=48.43;MQ0=0;MQRankSum=1.702;QD=26.46;ReadPosRankSum=-0.684;SB=-3437.40;TI=NM_000091;GI=COL4A3;FC=Synonymous_L399L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,227:228:99:6034,427,0:0.996:99 chr2 228135631 rs28381984 C T 5341.67 PASS AC=2;AF=1.00;AN=2;DP=225;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=48.45;MQ0=0;QD=23.74;SB=-4187.12;TI=NM_000091;GI=COL4A3;FC=Missense_P574L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,225:225:99:5342,367,0:1.000:99 chr2 228147093 rs56226424 A G 1519.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.832;DP=167;Dels=0.00;FS=0.590;HRun=0;HaplotypeScore=4.6807;MQ=48.83;MQ0=0;MQRankSum=1.093;QD=9.10;ReadPosRankSum=-1.057;SB=-937.13;TI=NM_000091;GI=COL4A3;FC=Missense_K834R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,68:167:99:1550,0,2260:0.407:99 chr2 228176901 rs2070735 A C 2493.70 PASS AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.40;MQ0=0;QD=25.98;SB=-1701.85;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,96:96:99:2527,178,0:1.000:99 chr2 228177479 rs7587228 C T 2266.13 PASS AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=48.61;MQ0=0;QD=24.63;SB=-1753.02;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,92:92:99:2299,160,0:1.000:99 chr2 228177642 . T TA 129.03 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.891;DP=88;FS=6.472;HRun=14;HaplotypeScore=212.3630;MQ=52.26;MQ0=0;MQRankSum=1.091;QD=1.47;ReadPosRankSum=-2.372;SB=-58.17;TI=NM_000091;GI=COL4A3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,17:88:99:168,0,934:0.250:99 chr2 228177751 rs28554165 G A 1517.81 PASS AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.10;MQ0=0;QD=26.17;SB=-818.97;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,58:58:99:1551,111,0:1.000:99 chr2 228177825 rs10188531 C G 2024.00 PASS AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.72;MQ0=0;QD=23.81;SB=-1601.09;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,85:85:99:2057,141,0:1.000:99 chr2 228178645 rs4290648 C G 580.75 PASS AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.72;MQ0=0;QD=23.23;SB=-431.12;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,25:25:42.14:614,42,0:1.000:42 chr2 228178780 rs7567291 A C 2566.78 PASS AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8661;MQ=42.57;MQ0=0;QD=22.52;SB=-2176.90;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,114:114:99:2600,178,0:1.000:99 chr2 231036860 rs3948463 C T 801.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.063;DP=71;Dels=0.00;FS=0.912;HRun=2;HaplotypeScore=0.8941;MQ=48.41;MQ0=0;MQRankSum=-0.928;QD=11.29;ReadPosRankSum=-0.582;SB=-604.29;TI=NM_004509,NM_080424;GI=SP110,SP110;FC=Missense_M579I,Missense_M579I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,38:71:99:831,0,651:0.535:99 chr2 231036866 rs13018234 G A 761.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.217;DP=75;Dels=0.00;FS=0.881;HRun=0;HaplotypeScore=1.7882;MQ=48.48;MQ0=0;MQRankSum=1.743;QD=10.15;ReadPosRankSum=-0.111;SB=-567.70;TI=NM_004509,NM_080424;GI=SP110,SP110;FC=Synonymous_C577C,Synonymous_C577C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,37:75:99:791,0,788:0.493:99 chr2 231037616 rs35495464 A G 2820.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.949;DP=317;Dels=0.00;FS=1.341;HRun=0;HaplotypeScore=0.8941;MQ=42.64;MQ0=0;MQRankSum=-1.360;QD=8.90;ReadPosRankSum=0.780;SB=-2251.09;TI=NM_004509,NM_080424;GI=SP110,SP110;FC=Synonymous_G550G,Synonymous_G550G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:174,143:317:99:2851,0,3549:0.451:99 chr2 231042276 rs1135791 A G 5313.58 PASS AC=2;AF=1.00;AN=2;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=48.52;MQ0=0;QD=26.44;SB=-3293.83;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 1/1:0,201:201:99:5314,376,0:1.000:99 chr2 231050715 rs3948464 A G 2125.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.666;DP=220;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.1308;MQ=46.12;MQ0=0;MQRankSum=-1.537;QD=9.66;ReadPosRankSum=1.807;SB=-1574.54;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 0/1:115,105:220:99:2156,0,2361:0.477:99 chr2 231072709 rs1365776 C T 6703.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.955;DP=553;Dels=0.00;FS=1.381;HRun=1;HaplotypeScore=17.9385;MQ=51.46;MQ0=0;MQRankSum=2.743;QD=12.12;ReadPosRankSum=1.095;SB=-3721.92;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 0/1:263,290:553:99:6704,0,6056:0.524:99 chr2 231077110 rs9061 C T 2142.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.072;DP=232;Dels=0.00;FS=0.480;HRun=2;HaplotypeScore=5.5484;MQ=46.66;MQ0=0;MQRankSum=0.283;QD=9.23;ReadPosRankSum=0.094;SB=-1685.59;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 0/1:125,107:232:99:2172,0,2540:0.461:99 chr2 231077676 rs11556887 G A 1121.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.106;DP=137;Dels=0.00;FS=0.641;HRun=0;HaplotypeScore=2.7776;MQ=43.29;MQ0=0;MQRankSum=-2.541;QD=8.18;ReadPosRankSum=-2.576;SB=-929.99;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 0/1:78,59:137:99:1151,0,1598:0.431:99 chr2 231077725 rs1129411 A G 2191.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.002;DP=272;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3638;MQ=41.89;MQ0=0;MQRankSum=-2.322;QD=8.06;ReadPosRankSum=-1.218;SB=-1783.24;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 0/1:158,114:272:99:2221,0,3181:0.419:99 chr2 233410294 rs2099489 C T 910.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.050;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=43.49;MQ0=0;MQRankSum=0.158;QD=9.79;ReadPosRankSum=-0.188;SB=-700.38;TI=NM_005199;GI=CHRNG;FC=Synonymous_R474R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,45:93:99:941,0,960:0.484:99 chr2 233410922 rs72991937 A G 179.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.003;DP=22;Dels=0.00;FS=1.837;HRun=0;HaplotypeScore=0.0000;MQ=42.74;MQ0=0;MQRankSum=-0.868;QD=8.17;ReadPosRankSum=1.469;SB=-103.25;TI=NM_005199;GI=CHRNG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,9:22:99:210,0,369:0.409:99 chr2 233410994 rs72991939 C T 156.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.694;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=39.37;MQ0=0;MQRankSum=-2.028;QD=6.01;ReadPosRankSum=-2.083;SB=-62.60;TI=NM_005199;GI=CHRNG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,8:26:99:186,0,515:0.308:99 chr2 233411018 rs72991940 C T 32.96 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.344;DP=14;Dels=0.00;FS=5.441;HRun=20;HaplotypeScore=8.9935;MQ=41.85;MQ0=0;MQRankSum=-0.919;QD=2.35;ReadPosRankSum=-2.333;SB=-38.58;TI=NM_005199;GI=CHRNG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,4:14:62.95:63,0,302:0.286:32 chr2 233411018 rs71398725 C CT 18.38 LowGQ;LowGQX;R8;SB;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.747;DP=14;FS=0.000;HRun=20;HaplotypeScore=102.6113;MQ=41.85;MQ0=0;MQRankSum=0.747;QD=1.31;ReadPosRankSum=-0.747;SB=-8.75;TI=NM_005199;GI=CHRNG;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:7,7:14:5.36:58,5,0:0.500:5 chr2 233411039 . A T 125.02 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DP=16;Dels=0.00;FS=36.994;HRun=20;HaplotypeScore=4.5828;MQ=40.46;MQ0=0;MQRankSum=1.905;QD=7.81;ReadPosRankSum=-1.164;SB=-2.88 GT:AD:DP:GQ:PL:VF:GQX 0/1:9,7:16:99:155,0,228:0.438:99 chr2 238243292 rs1131296 G A 682.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.866;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.64;MQ0=0;MQRankSum=-1.303;QD=12.41;ReadPosRankSum=0.884;SB=-588.77;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Missense_T3069I,Missense_T2462I,Missense_T2863I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,35:55:99:713,0,363:0.636:99 chr2 238243464 rs2270669 C G 1257.01 PASS AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5879;MQ=42.98;MQ0=0;QD=22.45;SB=-1050.62;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 1/1:0,56:56:87.29:1290,87,0:1.000:87 chr2 238244781 rs11690358 T C 402.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.931;DP=45;Dels=0.00;FS=2.640;HRun=0;HaplotypeScore=0.8667;MQ=45.29;MQ0=0;MQRankSum=-1.367;QD=8.93;ReadPosRankSum=-1.505;SB=-210.11;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 0/1:26,19:45:99:432,0,507:0.422:99 chr2 238244863 rs35879189 TGCA T 1922.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.738;DP=97;FS=2.739;HRun=0;HaplotypeScore=246.0136;MQ=46.72;MQ0=0;MQRankSum=0.963;QD=19.82;ReadPosRankSum=1.428;SB=-754.22;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 0/1:56,41:97:99:1961,0,2419:0.423:99 chr2 238244923 rs11683438 C T 702.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.202;DP=70;Dels=0.00;FS=3.261;HRun=0;HaplotypeScore=4.4208;MQ=53.65;MQ0=0;MQRankSum=0.810;QD=10.04;ReadPosRankSum=0.426;SB=-556.42;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 0/1:35,34:70:99:732,0,787:0.493:99 chr2 238244963 rs6728818 A G 2276.56 PASS AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8936;MQ=55.01;MQ0=0;QD=25.87;SB=-1506.07;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 1/1:0,88:88:99:2310,163,0:1.000:99 chr2 238249108 rs61729844 T C 2498.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.044;DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=46.73;MQ0=0;MQRankSum=-0.850;QD=11.16;ReadPosRankSum=2.688;SB=-1913.98;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 0/1:102,122:224:99:2529,0,2147:0.545:99 chr2 238249630 rs4433949 C T 892.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.138;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=44.25;MQ0=0;MQRankSum=-0.375;QD=12.40;ReadPosRankSum=-2.998;SB=-723.14;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Synonymous_A2643A,Synonymous_A2036A,Synonymous_A2437A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,44:72:99:923,0,572:0.611:99 chr2 238249717 rs34558385 G A 942.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.552;DP=110;Dels=0.00;FS=0.707;HRun=0;HaplotypeScore=2.8937;MQ=42.13;MQ0=0;MQRankSum=0.684;QD=8.57;ReadPosRankSum=0.533;SB=-746.59;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 0/1:62,48:110:99:972,0,1246:0.436:99 chr2 238253152 rs34181055 C T 3365.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.276;DP=322;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7608;MQ=44.72;MQ0=0;MQRankSum=-0.871;QD=10.45;ReadPosRankSum=-1.131;SB=-2705.57;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Synonymous_R2503R,Synonymous_R1896R,Synonymous_R2297R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:156,166:322:99:3365,0,3261:0.516:99 chr2 238258814 rs3790993 C G 1248.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.245;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=39.94;MQ0=0;MQRankSum=-0.588;QD=9.25;ReadPosRankSum=-0.170;SB=-1062.74;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 0/1:71,64:135:99:1279,0,1430:0.474:99 chr2 238277573 rs2645774 C A 1588.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.355;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5761;MQ=48.16;MQ0=0;MQRankSum=0.734;QD=11.51;ReadPosRankSum=1.566;SB=-1347.75;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Synonymous_G1511G,Synonymous_G904G,Synonymous_G1305G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,79:138:99:1619,0,1234:0.577:99 chr2 238277795 rs2646260 A G 1575.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=47.49;MQ0=0;MQRankSum=0.734;QD=10.79;ReadPosRankSum=-0.025;SB=-1158.15;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Synonymous_I1437I,Synonymous_I830I,Synonymous_I1231I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,76:146:99:1606,0,1423:0.521:99 chr2 238283605 rs12622093 G A 1279.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.247;DP=153;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8835;MQ=45.38;MQ0=0;MQRankSum=-1.237;QD=8.36;ReadPosRankSum=0.841;SB=-1110.46;TI=NM_004369,NM_057166,NM_057167,NM_057165,NM_057164;GI=COL6A3,COL6A3,COL6A3,COL6A3,COL6A3;FC=Synonymous_G1043G,Synonymous_G436G,Synonymous_G837G,Synonymous_G837G,Synonymous_G636G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,69:153:99:1310,0,1670:0.451:99 chr3 13896140 rs3762719 A G 1653.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.072;DP=184;Dels=0.00;FS=1.156;HRun=1;HaplotypeScore=6.3876;MQ=47.75;MQ0=0;MQRankSum=-2.218;QD=8.99;ReadPosRankSum=0.161;SB=-1319.77;TI=NM_004625;GI=WNT7A;FC=Synonymous_S153S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,85:184:99:1684,0,2002:0.462:99 chr3 13896284 rs12639607 C T 401.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.197;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.95;MQ0=0;MQRankSum=2.558;QD=14.36;ReadPosRankSum=2.214;SB=-283.02;TI=NM_004625;GI=WNT7A;FC=Synonymous_A105A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,19:28:99:432,0,172:0.679:99 chr3 14186757 rs1126547 C G 6737.03 PASS AC=2;AF=1.00;AN=2;DP=253;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7872;MQ=54.50;MQ0=0;QD=26.63;SB=-4087.94;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,253:253:99:6737,476,0:1.000:99 chr3 14186823 rs2470458 T C 3734.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.798;DP=353;Dels=0.00;FS=1.253;HRun=1;HaplotypeScore=3.6488;MQ=53.13;MQ0=0;MQRankSum=1.092;QD=10.58;ReadPosRankSum=-0.108;SB=-2886.60;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:169,183:353:99:3735,0,3423:0.520:99 chr3 14186830 rs67353494 A T 3673.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.497;DP=360;Dels=0.00;FS=1.242;HRun=7;HaplotypeScore=8.7530;MQ=52.75;MQ0=0;MQRankSum=1.052;QD=10.20;ReadPosRankSum=1.044;SB=-2785.13;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:180,179:359:99:3673,0,3754:0.499:99 chr3 14197987 rs2958057 A T 4999.98 PASS AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7882;MQ=44.17;MQ0=0;QD=24.15;SB=-3816.46;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 1/1:0,207:207:99:5000,343,0:1.000:99 chr3 14199887 rs2228000 G A 1645.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.565;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6817;MQ=45.25;MQ0=0;MQRankSum=-2.322;QD=11.12;ReadPosRankSum=0.410;SB=-1410.12;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Missense_A499V,Missense_A462V,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,83:148:99:1676,0,1273:0.561:99 chr3 14220095 rs2607775 C G 3541.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.500;DP=413;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.7990;MQ=50.83;MQ0=0;MQRankSum=1.113;QD=8.58;ReadPosRankSum=-2.043;SB=-2646.73;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:238,173:413:99:3542,0,5071:0.421:99 chr3 33038183 rs12167 A G 2312.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.030;DP=208;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=51.41;MQ0=0;MQRankSum=2.473;QD=11.12;ReadPosRankSum=-0.839;SB=-1746.40;TI=NM_001079811,NM_000404,NM_001135602;GI=GLB1,GLB1,GLB1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,110:208:99:2342,0,2107:0.529:99 chr3 33055721 rs4302331 A G 2011.89 PASS AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.52;MQ0=0;QD=22.35;SB=-1738.97;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 1/1:0,90:90:99:2045,138,0:1.000:99 chr3 33138544 rs7614776 A G 7553.19 PASS AC=2;AF=1.00;AN=2;DP=324;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8871;MQ=46.69;MQ0=0;QD=23.31;SB=-6152.01;TI=NM_000404,NM_001135602;GI=GLB1,GLB1;FC=Synonymous_L12L,Synonymous_L12L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,324:324:99:7553,515,0:1.000:99 chr3 33138549 rs7637099 G A 7652.67 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.722;DP=330;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4181;MQ=46.51;MQ0=0;MQRankSum=1.711;QD=23.19;ReadPosRankSum=1.659;SB=-6252.44;TI=NM_000404,NM_001135602;GI=GLB1,GLB1;FC=Missense_P10L,Missense_P10L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,329:330:99:7653,521,0:0.997:99 chr3 33174156 rs1135127 T G 1195.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.526;DP=153;Dels=0.00;FS=0.604;HRun=0;HaplotypeScore=0.8667;MQ=41.28;MQ0=0;MQRankSum=-1.219;QD=7.81;ReadPosRankSum=0.915;SB=-1000.25;TI=NM_006371;GI=CRTAP;FC=Synonymous_T344T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,64:153:99:1225,0,1873:0.418:99 chr3 33174168 rs1135128 G A 1180.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.143;DP=161;Dels=0.00;FS=0.593;HRun=0;HaplotypeScore=0.8667;MQ=41.75;MQ0=0;MQRankSum=-1.211;QD=7.33;ReadPosRankSum=1.940;SB=-990.61;TI=NM_006371;GI=CRTAP;FC=Synonymous_S348S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:97,64:161:99:1210,0,2034:0.398:99 chr3 33185027 . G GGAACTA 1267.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.182;DP=71;FS=2.329;HRun=0;HaplotypeScore=11.3666;MQ=45.75;MQ0=0;MQRankSum=3.410;QD=17.85;ReadPosRankSum=2.562;SB=-492.40;TI=NM_006371;GI=CRTAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,18:71:99:1306,0,3772:0.254:99 chr3 33185522 rs1137463 C A 1513.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.093;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7714;MQ=48.09;MQ0=0;MQRankSum=0.606;QD=10.16;ReadPosRankSum=-0.678;SB=-1288.17;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,77:149:99:1544,0,1449:0.517:99 chr3 33185798 rs4678476 T A 3015.90 PASS AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=51.24;MQ0=0;QD=24.13;SB=-2411.37;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,125:125:99:3049,211,0:1.000:99 chr3 33186087 rs4355234 A G 186.65 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.540;DP=13;Dels=0.00;FS=2.881;HRun=0;HaplotypeScore=0.8941;MQ=57.07;MQ0=0;MQRankSum=-0.849;QD=14.36;ReadPosRankSum=-0.849;SB=-77.81;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,9:13:99:217,0,111:0.692:99 chr3 33187082 rs12635415 G A 760.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.055;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=42.48;MQ0=0;MQRankSum=-2.278;QD=8.74;ReadPosRankSum=-0.166;SB=-624.34;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,40:87:99:790,0,1001:0.460:99 chr3 33187425 rs1132392 G A 251.39 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.244;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.89;MQ0=0;MQRankSum=1.415;QD=14.79;ReadPosRankSum=-0.049;SB=-69.26;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,10:17:99:281,0,162:0.588:99 chr3 33187520 . TA T 142.73 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.394;DP=137;FS=2.636;HRun=12;HaplotypeScore=206.8967;MQ=44.82;MQ0=0;MQRankSum=0.125;QD=1.04;ReadPosRankSum=-1.743;SB=-76.37;TI=NM_006371;GI=CRTAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:101,21:137:99:182,0,2437:0.172:99 chr3 33188384 rs72155210 TA T 388.17 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.306;DP=62;FS=0.000;HRun=13;HaplotypeScore=61.8722;MQ=56.77;MQ0=0;MQRankSum=0.874;QD=6.26;ReadPosRankSum=-0.219;SB=-188.49;TI=NM_006371;GI=CRTAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,23:62:99:427,0,757:0.390:99 chr3 46939588 rs73067029 G A 1085.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.267;DP=115;Dels=0.00;FS=0.695;HRun=0;HaplotypeScore=3.5215;MQ=47.35;MQ0=0;MQRankSum=0.469;QD=9.44;ReadPosRankSum=1.523;SB=-831.76;TI=NM_000316,NM_001184744;GI=PTH1R,PTH1R;FC=Missense_R150H,Missense_R150H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,53:115:99:1116,0,1329:0.461:99 chr3 46944274 rs1138518 T C 1906.71 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.130;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=43.22;MQ0=0;MQRankSum=0.130;QD=22.43;ReadPosRankSum=2.392;SB=-1536.41;TI=NM_000316,NM_001184744;GI=PTH1R,PTH1R;FC=Synonymous_N463N,Synonymous_N463N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,83:85:93.70:1940,94,0:0.976:93 chr3 46945263 . G GA 4155.64 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.213;DP=215;FS=0.000;HRun=10;HaplotypeScore=220.8975;MQ=56.13;MQ0=0;MQRankSum=4.392;QD=19.33;ReadPosRankSum=-0.768;SB=-2075.48;TI=NM_000316,NM_001184744;GI=PTH1R,PTH1R;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,154:214:99:4156,0,257:0.751:99 chr3 48508585 rs11797 C T 2575.90 PASS AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.45;MQ0=0;QD=22.40;SB=-2255.74;TI=NM_033629,NM_016381;GI=TREX1,TREX1;FC=Synonymous_Y177Y,Synonymous_Y232Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,115:115:99:2609,178,0:1.000:99 chr3 48625266 rs1264194 T C 1500.73 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=43.10;MQ0=0;QD=22.40;SB=-1220.86;TI=NM_000094;GI=COL7A1;FC=Synonymous_P939P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:67:99:1534,105,0:1.000:99 chr3 49454277 rs10640 G A 3660.72 PASS AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7740;MQ=45.37;MQ0=0;QD=24.24;SB=-2609.41;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 1/1:0,151:151:99:3661,253,0:1.000:99 chr3 49455330 rs11715915 C T 4179.19 PASS AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=41.96;MQ0=0;QD=23.09;SB=-3416.83;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 1/1:0,181:181:99:4179,286,0:1.000:99 chr3 53122969 rs2082093 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_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chr3 53123273 rs891368 A G 991.14 PASS AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.95;MQ0=0;QD=26.08;SB=-755.57;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,38:38:72.24:1024,72,0:1.000:72 chr3 53123486 rs1078968 G A 1827.40 PASS AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55.65;MQ0=0;QD=25.74;SB=-1242.72;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,71:71:99:1860,129,0:1.000:99 chr3 53125469 rs2564922 G A 5247.40 PASS AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=51.80;MQ0=0;QD=28.21;SB=-3355.64;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,186:186:99:5247,376,0:1.000:99 chr3 53125585 rs2564921 T C 5587.25 PASS AC=2;AF=1.00;AN=2;DP=229;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=49.67;MQ0=0;QD=24.40;SB=-4464.85;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,228:229:99:5587,385,0:1.000:99 chr3 53125922 rs11242 T C 138.34 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.06;SB=-79.97;TI=NM_052859;GI=RFT1;FC=Synonymous_T541T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,6:6:12.04:171,12,0:1.000:12 chr3 81539382 rs846 C T 1237.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.951;DP=118;Dels=0.00;FS=1.472;HRun=0;HaplotypeScore=2.8936;MQ=49.42;MQ0=0;MQRankSum=0.202;QD=10.49;ReadPosRankSum=1.704;SB=-974.17;TI=NM_000158;GI=GBE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,58:118:99:1268,0,1247:0.492:99 chr3 81643167 rs2172397 T C 14401.49 PASS AC=2;AF=1.00;AN=2;DP=594;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9392;MQ=53.27;MQ0=0;QD=24.24;SB=-11390.98;TI=NM_000158;GI=GBE1;FC=Missense_I334V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,594:594:99:14401,993,0:1.000:99 chr3 81698130 rs2229519 T C 5304.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.813;DP=525;Dels=0.00;FS=2.676;HRun=1;HaplotypeScore=3.6821;MQ=51.24;MQ0=0;MQRankSum=-1.440;QD=10.10;ReadPosRankSum=0.028;SB=-3789.38;TI=NM_000158;GI=GBE1;FC=Missense_R190G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:277,248:525:99:5305,0,5670:0.472:99 chr3 81810702 rs11391701 A AG 4211.33 PASS AC=2;AF=1.00;AN=2;DP=118;FS=0.000;HRun=2;HaplotypeScore=156.4883;MQ=57.62;MQ0=0;QD=35.69;SB=-2021.79;TI=NM_000158;GI=GBE1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,104:118:99:4211,313,0:0.963:99 chr3 81810725 rs2290081 C T 749.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.300;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4870;MQ=56.39;MQ0=0;MQRankSum=1.912;QD=9.25;ReadPosRankSum=-0.767;SB=-560.44;TI=NM_000158;GI=GBE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,35:81:99:779,0,1059:0.432:99 chr3 87308831 rs6792500 C T 9445.12 PASS AC=2;AF=1.00;AN=2;DP=284;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=56.16;MQ0=0;QD=33.26;SB=-2225.89;TI=NM_001122757,NM_000306;GI=POU1F1,POU1F1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,284:284:99:9445,692,0:1.000:99 chr3 87308904 rs33936108 T A 5786.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.605;DP=496;Dels=0.00;FS=1.080;HRun=8;HaplotypeScore=33.8306;MQ=57.85;MQ0=0;MQRankSum=1.245;QD=11.67;ReadPosRankSum=0.526;SB=-2878.60;TI=NM_001122757,NM_000306;GI=POU1F1,POU1F1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:258,238:496:99:5787,0,6285:0.480:99 chr3 121488995 rs1135750 C G 1318.31 PASS AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=52.44;MQ0=0;QD=31.39;SB=-590.48;TI=NM_001023570,NM_001023571;GI=IQCB1,IQCB1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,42:42:99:1351,99,0:1.000:99 chr3 121500699 rs17849995 C T 5056.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.064;DP=503;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2034;MQ=51.98;MQ0=0;MQRankSum=0.982;QD=10.05;ReadPosRankSum=-0.144;SB=-4261.98;TI=NM_001023570,NM_001023571;GI=IQCB1,IQCB1;FC=Missense_C434Y,Missense_C301Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:251,252:503:99:5056,0,4959:0.501:99 chr3 121526204 rs4543051 G A 11930.48 PASS AC=2;AF=1.00;AN=2;DP=469;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=23.0749;MQ=50.00;MQ0=0;QD=25.44;SB=-8216.38;TI=NM_001023570,NM_001023571;GI=IQCB1,IQCB1;FC=Synonymous_L192L,Synonymous_L192L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,467:468:99:11930,837,0:1.000:99 chr3 121553852 rs72421117 GCTCCCA G 5401.88 PASS AC=2;AF=1.00;AN=2;DP=68;FS=0.000;HRun=0;HaplotypeScore=36.1482;MQ=46.79;MQ0=0;QD=79.44;SB=-2037.32;TI=NM_001023570,NM_001023571;GI=IQCB1,IQCB1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,59:68:99:5402,181,0:0.952:99 chr3 121553904 . A G 395.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.468;DP=66;Dels=0.00;FS=2.198;HRun=1;HaplotypeScore=0.0000;MQ=51.51;MQ0=0;MQRankSum=-1.748;QD=6.00;ReadPosRankSum=-1.060;SB=-256.18;TI=NM_001023570,NM_001023571;GI=IQCB1,IQCB1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,21:66:99:426,0,1051:0.318:99 chr3 128598469 rs62783861 CGT C 526.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.761;DP=54;FS=0.000;HRun=0;HaplotypeScore=34.3525;MQ=44.84;MQ0=2;MQRankSum=0.426;QD=9.74;ReadPosRankSum=-0.186;SB=-279.81;TI=NR_033426,NM_014049;GI=ACAD9,ACAD9;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,16:52:99:565,0,1324:0.296:99 chr3 128614185 rs1680778 A C 541.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.765;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.63;MQ0=0;MQRankSum=-0.172;QD=8.59;ReadPosRankSum=2.806;SB=-454.00;TI=NR_033426,NM_014049;GI=ACAD9,ACAD9;FC=Silent,Synonymous_R127R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,29:63:99:571,0,665:0.460:99 chr3 128627933 rs876755 C T 1154.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.128;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=41.04;MQ0=0;MQRankSum=-1.822;QD=11.66;ReadPosRankSum=0.501;SB=-1006.04;TI=NR_033426,NM_014049;GI=ACAD9,ACAD9;FC=Silent,Synonymous_P492P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,58:99:99:1184,0,731:0.586:99 chr3 132400102 . CTTT C 254.38 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.245;DP=86;FS=1.013;HRun=23;HaplotypeScore=279.8616;MQ=42.84;MQ0=0;MQRankSum=1.030;QD=2.96;ReadPosRankSum=0.422;SB=-128.38;TI=NM_153240;GI=NPHP3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,7:86:99:293,0,1000:0.117:99 chr3 132400284 . G T 308.67 SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.585;DP=68;Dels=0.00;FS=29.543;HRun=9;HaplotypeScore=3.9326;MQ=48.32;MQ0=0;MQRankSum=-5.589;QD=4.54;ReadPosRankSum=-5.316;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,14:68:99:339,0,1140:0.206:99 chr3 132400286 . A T 308.67 SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.145;DP=68;Dels=0.00;FS=29.543;HRun=5;HaplotypeScore=2.9246;MQ=48.32;MQ0=0;MQRankSum=-5.741;QD=4.54;ReadPosRankSum=-5.013;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,14:68:99:339,0,1139:0.206:99 chr3 132400292 . A T 278.26 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.999;DP=67;Dels=0.01;FS=29.696;HRun=5;HaplotypeScore=2.9246;MQ=48.13;MQ0=0;MQRankSum=-5.353;QD=4.15;ReadPosRankSum=-2.983;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,13:66:99:308,0,1120:0.197:99 chr3 132400293 . G T 281.26 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.287;DP=66;Dels=0.02;FS=26.408;HRun=1;HaplotypeScore=3.8187;MQ=47.93;MQ0=0;MQRankSum=-5.535;QD=4.26;ReadPosRankSum=-2.681;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,13:65:99:311,0,1090:0.200:99 chr3 132400295 . A T 311.68 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.510;DP=66;Dels=0.00;FS=29.740;HRun=1;HaplotypeScore=4.8153;MQ=47.93;MQ0=0;MQRankSum=-5.717;QD=4.72;ReadPosRankSum=-1.827;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,14:66:99:342,0,1095:0.212:99 chr3 132400303 . G A 247.18 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.429;DP=59;Dels=0.00;FS=22.487;HRun=0;HaplotypeScore=10.5769;MQ=47.09;MQ0=0;MQRankSum=-5.463;QD=4.19;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,13:59:99:277,0,1024:0.224:99 chr3 132400306 . T C 250.08 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.222;DP=57;Dels=0.00;FS=22.487;HRun=0;HaplotypeScore=8.7163;MQ=47.09;MQ0=0;MQRankSum=-4.903;QD=4.39;ReadPosRankSum=-0.734;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,12:57:99:280,0,1040:0.211:99 chr3 132400312 . A C 135.15 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.004;DP=51;Dels=0.02;FS=14.241;HRun=2;HaplotypeScore=16.5620;MQ=48.91;MQ0=0;MQRankSum=-4.596;QD=2.65;ReadPosRankSum=-0.423;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,9:50:99:165,0,984:0.188:99 chr3 132400318 . G C 79.68 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-3.317;DP=39;Dels=0.00;FS=11.681;HRun=2;HaplotypeScore=2.8271;MQ=49.34;MQ0=0;MQRankSum=-4.350;QD=2.04;ReadPosRankSum=-2.150;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,9:39:99:110,0,828:0.231:79 chr3 132400324 . C G 89.35 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.893;DP=32;Dels=0.00;FS=11.481;HRun=2;HaplotypeScore=0.0000;MQ=50.78;MQ0=0;MQRankSum=-3.790;QD=2.79;ReadPosRankSum=-3.307;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,6:32:99:119,0,776:0.188:89 chr3 142168331 rs1802904 C T 5839.69 PASS AC=2;AF=1.00;AN=2;DP=236;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=46.18;MQ0=0;QD=24.74;SB=-4275.76;TI=NM_001184;GI=ATR;FC=Synonymous_Q2625Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,236:236:99:5840,403,0:1.000:99 chr3 142178144 rs2229032 C T 3891.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.122;DP=441;Dels=0.00;FS=3.561;HRun=1;HaplotypeScore=4.5761;MQ=49.92;MQ0=0;MQRankSum=-0.486;QD=8.82;ReadPosRankSum=-3.452;SB=-2668.50;TI=NM_001184;GI=ATR;FC=Missense_R2425Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:256,185:441:99:3892,0,5625:0.420:99 chr3 142188337 rs28910273 A C 6594.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=6.057;DP=610;Dels=0.00;FS=2.033;HRun=0;HaplotypeScore=10.0438;MQ=51.59;MQ0=0;MQRankSum=2.364;QD=10.81;ReadPosRankSum=2.478;SB=-4739.35;TI=NM_001184;GI=ATR;FC=Missense_Y2132D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:309,301:610:99:6595,0,6813:0.493:99 chr3 142217537 rs2227932 A G 4636.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.947;DP=457;Dels=0.00;FS=0.698;HRun=0;HaplotypeScore=9.1522;MQ=48.56;MQ0=0;MQRankSum=-2.494;QD=10.15;ReadPosRankSum=1.109;SB=-3397.34;TI=NM_001184;GI=ATR;FC=Synonymous_Y1820Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:241,216:457:99:4637,0,5323:0.473:99 chr3 142277575 rs2227930 A T 4472.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.043;DP=466;Dels=0.00;FS=0.336;HRun=1;HaplotypeScore=9.7197;MQ=50.85;MQ0=0;MQRankSum=3.302;QD=9.60;ReadPosRankSum=1.650;SB=-3387.44;TI=NM_001184;GI=ATR;FC=Synonymous_G592G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:256,210:466:99:4472,0,5306:0.451:99 chr3 142281612 rs2227928 A G 3789.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.012;DP=346;Dels=0.00;FS=3.449;HRun=0;HaplotypeScore=7.1527;MQ=52.06;MQ0=0;MQRankSum=1.186;QD=10.95;ReadPosRankSum=-0.811;SB=-2885.40;TI=NM_001184;GI=ATR;FC=Missense_M211T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:171,175:346:99:3790,0,3894:0.506:99 chr3 150644247 rs3796239 C T 733.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.391;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.2995;MQ=48.23;MQ0=0;MQRankSum=-0.735;QD=6.79;ReadPosRankSum=-1.988;SB=-479.36;TI=NM_052995;GI=CLRN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,40:108:99:763,0,1600:0.370:99 chr3 150644265 . CA C 97.75 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.793;DP=92;FS=6.214;HRun=12;HaplotypeScore=288.1122;MQ=50.41;MQ0=0;MQRankSum=1.306;QD=1.06;ReadPosRankSum=-1.287;SB=-15.45;TI=NM_052995;GI=CLRN1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,12:92:99:137,0,1494:0.148:97 chr3 150661842 rs11914988 T G 1532.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.898;DP=129;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=51.97;MQ0=0;MQRankSum=2.339;QD=11.88;ReadPosRankSum=2.542;SB=-946.35;TI=NM_052995,NM_174878,NM_001195794;GI=CLRN1,CLRN1,CLRN1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,66:129:99:1563,0,1355:0.512:99 chr3 150690566 rs3796240 T C 3070.41 PASS AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=51.35;MQ0=0;QD=25.17;SB=-2296.99;TI=NM_174878,NM_001195794,NR_024066;GI=CLRN1,CLRN1,CLRN1OS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,122:122:99:3103,220,0:1.000:99 chr3 150690586 rs73155722 G A 1039.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.520;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8937;MQ=55.05;MQ0=0;MQRankSum=0.798;QD=13.50;ReadPosRankSum=1.415;SB=-693.81;TI=NM_174878,NM_001195794,NR_024066;GI=CLRN1,CLRN1,CLRN1OS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,44:77:99:1070,0,752:0.571:99 chr3 158362391 rs28372852 C T 738.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.490;DP=106;Dels=0.00;FS=1.629;HRun=0;HaplotypeScore=0.8667;MQ=51.30;MQ0=0;MQRankSum=-1.120;QD=6.96;ReadPosRankSum=-1.120;SB=-485.40;TI=NM_024996;GI=GFM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,37:106:99:768,0,1458:0.349:99 chr3 158362441 rs1864507 T C 326.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.781;DP=65;Dels=0.00;FS=2.375;HRun=1;HaplotypeScore=0.0000;MQ=52.69;MQ0=0;MQRankSum=0.007;QD=5.03;ReadPosRankSum=-0.151;SB=-271.04;TI=NM_024996;GI=GFM1;FC=Synonymous_A6A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,19:65:99:357,0,1123:0.292:99 chr3 158366900 rs2303909 G A 4737.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.752;DP=409;Dels=0.00;FS=1.613;HRun=0;HaplotypeScore=2.6823;MQ=52.30;MQ0=0;MQRankSum=2.499;QD=11.58;ReadPosRankSum=-0.735;SB=-3056.74;TI=NM_024996;GI=GFM1;FC=Missense_V215I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:214,195:409:99:4738,0,5168:0.477:99 chr3 158409262 rs1047355 C T 1316.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.395;DP=119;Dels=0.00;FS=1.442;HRun=2;HaplotypeScore=3.5764;MQ=53.52;MQ0=0;MQRankSum=2.448;QD=11.06;ReadPosRankSum=0.640;SB=-928.42;TI=NM_024996;GI=GFM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,59:119:99:1346,0,1394:0.496:99 chr3 158409482 rs1047366 C T 622.69 SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.244;DP=51;Dels=0.00;FS=24.508;HRun=2;HaplotypeScore=1.7882;MQ=59.09;MQ0=0;MQRankSum=-0.511;QD=12.21;ReadPosRankSum=0.068;SB=-0.01;TI=NM_024996;GI=GFM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,20:51:99:653,0,886:0.392:99 chr3 158409707 . TTTG T 3375.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.683;DP=153;FS=0.000;HRun=0;HaplotypeScore=93.1822;MQ=50.67;MQ0=0;MQRankSum=-1.260;QD=22.06;ReadPosRankSum=0.451;SB=-1583.59;TI=NM_024996;GI=GFM1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,64:153:99:3376,0,4620:0.418:99 chr3 158409947 rs8650 T A 618.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.928;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=-0.191;QD=14.73;ReadPosRankSum=0.369;SB=-379.35;TI=NM_024996;GI=GFM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,24:42:99:649,0,375:0.571:99 chr3 160101389 rs61066536 A C 3270.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.540;DP=245;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7689;MQ=53.87;MQ0=0;MQRankSum=-0.489;QD=13.35;ReadPosRankSum=-0.489;SB=-2554.41;TI=NM_001190242,NM_020800,NM_001190241;GI=IFT80,IFT80,IFT80;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,150:245:99:3270,0,2002:0.612:99 chr3 183960252 rs706584 A C 959.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.880;DP=86;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9894;MQ=44.82;MQ0=0;MQRankSum=-1.501;QD=11.16;ReadPosRankSum=-0.713;SB=-854.78;TI=NR_024534,NM_005787,NR_024533,NM_001006941;GI=ALG3,ALG3,ALG3,ALG3;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,50:86:99:990,0,672:0.581:99 chr3 190023552 rs8298 T C 6552.82 PASS AC=2;AF=1.00;AN=2;DP=258;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5764;MQ=54.26;MQ0=0;QD=25.40;SB=-4747.29;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,258:258:99:6553,458,0:1.000:99 chr3 190023837 rs8798 A G 4653.27 PASS AC=2;AF=1.00;AN=2;DP=198;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=50.86;MQ0=0;QD=23.50;SB=-3870.42;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,198:198:99:4653,319,0:1.000:99 chr3 190024057 rs1364722 C T 3745.71 PASS AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=46.85;MQ0=0;QD=24.32;SB=-2932.95;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,154:154:99:3746,259,0:1.000:99 chr3 190024103 rs1895708 T C 2389.57 PASS AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.60;MQ0=0;QD=25.97;SB=-1798.79;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,92:92:99:2423,169,0:1.000:99 chr3 190024188 rs2204226 G A 1037.37 PASS AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;QD=26.60;SB=-717.38;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,39:39:75.25:1070,75,0:1.000:75 chr3 190024457 rs9290928 A G 802.07 PASS AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.29;MQ0=0;QD=25.87;SB=-404.55;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,31:31:60.19:835,60,0:1.000:60 chr3 190024893 rs17500920 T A 1109.27 PASS AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.68;MQ0=0;QD=29.19;SB=-436.50;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,38:38:84.27:1142,84,0:1.000:84 chr3 190025617 rs61579780 T A 2102.52 PASS AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.92;MQ0=0;QD=25.33;SB=-1350.83;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,83:83:99:2136,150,0:1.000:99 chr3 190025618 rs9842576 A G 2056.91 PASS AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.78;MQ0=0;QD=25.08;SB=-1356.78;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,82:82:99:2090,147,0:1.000:99 chr3 190025677 rs55724972 C A 728.47 PASS AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.81;MQ0=0;QD=26.02;SB=-484.51;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,28:28:54.18:761,54,0:1.000:54 chr3 190025805 rs1043747 G T 1629.33 PASS AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=43.63;MQ0=0;QD=23.28;SB=-1309.69;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,70:70:99:1662,114,0:1.000:99 chr3 190030680 rs9869263 A G 4482.98 PASS AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=43.66;MQ0=0;QD=23.47;SB=-3642.30;TI=NM_021101;GI=CLDN1;FC=Synonymous_G123G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,191:191:99:4483,307,0:1.000:99 chr4 980896 rs11248061 C A 541.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.023;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9995;MQ=38.41;MQ0=0;MQRankSum=-2.059;QD=12.89;ReadPosRankSum=1.437;SB=-431.80;TI=NM_134425,NM_000203;GI=SLC26A1,IDUA;FC=Silent,Synonymous_A8A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,26:42:99:571,0,289:0.619:99 chr4 980932 rs10902762 G A 251.51 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.796;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;MQRankSum=0.903;QD=13.97;ReadPosRankSum=-0.478;SB=-201.42;TI=NM_134425,NM_000203;GI=SLC26A1,IDUA;FC=Silent,Synonymous_A20A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,14:18:62.45:282,0,62:0.778:62 chr4 980971 rs10794537 T G 158.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.684;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;MQRankSum=1.247;QD=7.91;ReadPosRankSum=0.340;SB=-122.28;TI=NM_134425,NM_000203;GI=SLC26A1,IDUA;FC=Silent,Missense_H33Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,10:20:99:188,0,194:0.500:99 chr4 994452 rs3755954 C T 5810.21 PASS AC=2;AF=1.00;AN=2;DP=248;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3760;MQ=41.76;MQ0=0;QD=23.43;SB=-4801.28;TI=NM_000203;GI=IDUA;FC=Synonymous_L118L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,248:248:99:5810,397,0:1.000:99 chr4 3475252 rs4325970 T C 1257.08 PASS AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=42.98;MQ0=0;QD=22.45;SB=-1072.60;TI=NM_001164673,NM_173660;GI=DOK7,DOK7;FC=Synonymous_L74L,Synonymous_L74L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:56:87.29:1290,87,0:1.000:87 chr4 5564191 rs2287576 A T 4296.38 PASS AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=1.7882;MQ=50.91;MQ0=0;QD=23.22;SB=-3639.38;TI=NM_147127,NM_001166136;GI=EVC2,EVC2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,185:185:99:4296,292,0:1.000:99 chr4 5642274 rs13131655 T C 3272.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.938;DP=310;Dels=0.00;FS=0.425;HRun=1;HaplotypeScore=6.5756;MQ=50.01;MQ0=0;MQRankSum=-0.276;QD=10.56;ReadPosRankSum=1.901;SB=-1832.55;TI=NM_147127,NM_001166136;GI=EVC2,EVC2;FC=Synonymous_E479E,Synonymous_E399E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:164,146:310:99:3272,0,3872:0.471:99 chr4 5710856 rs3755842 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_001166136;GI=EVC2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chr4 5711095 rs10000314 G A 95.29 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=19.06;SB=-67.68;TI=NM_001166136;GI=EVC2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:5:9.03:127,9,0:1.000:9 chr4 5743509 rs6446393 C T 14093.55 PASS AC=2;AF=1.00;AN=2;DP=488;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=55.88;MQ0=0;QD=28.88;SB=-7099.32;TI=NM_153717;GI=EVC;FC=Synonymous_L257L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,486:488:99:14094,1011,0:1.000:99 chr4 5743512 rs6414624 T C 14520.78 PASS AC=2;AF=1.00;AN=2;DP=499;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4702;MQ=55.57;MQ0=0;QD=29.10;SB=-7283.17;TI=NM_153717;GI=EVC;FC=Missense_Y258H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,498:499:99:14521,1047,0:1.000:99 chr4 5749961 rs4688962 G C 4772.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.194;DP=413;Dels=0.00;FS=2.090;HRun=0;HaplotypeScore=5.4324;MQ=48.67;MQ0=0;MQRankSum=-3.999;QD=11.55;ReadPosRankSum=1.830;SB=-3206.59;TI=NM_153717;GI=EVC;FC=Synonymous_L342L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:199,213:413:99:4772,0,4735:0.517:99 chr4 5750003 rs33929747 A G 2884.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.795;DP=269;Dels=0.00;FS=0.951;HRun=0;HaplotypeScore=7.6787;MQ=50.33;MQ0=0;MQRankSum=2.117;QD=10.72;ReadPosRankSum=-1.008;SB=-1707.99;TI=NM_153717;GI=EVC;FC=Synonymous_L356L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:146,123:269:99:2915,0,3123:0.457:99 chr4 5755542 rs2302075 C A 5143.60 PASS AC=2;AF=1.00;AN=2;DP=214;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.1764;MQ=50.86;MQ0=0;QD=24.04;SB=-4148.82;TI=NM_153717;GI=EVC;FC=Missense_T449K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,214:214:99:5144,352,0:1.000:99 chr4 5785442 rs1383180 G A 2265.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.988;DP=208;Dels=0.00;FS=1.073;HRun=0;HaplotypeScore=1.8100;MQ=48.18;MQ0=0;MQRankSum=0.942;QD=10.89;ReadPosRankSum=0.820;SB=-1764.44;TI=NM_153717;GI=EVC;FC=Missense_R576Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:97,111:208:99:2295,0,2014:0.534:99 chr4 5812778 rs2291151 G A 1452.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.053;DP=134;Dels=0.00;FS=0.648;HRun=0;HaplotypeScore=1.8835;MQ=47.45;MQ0=0;MQRankSum=-2.256;QD=10.84;ReadPosRankSum=-3.000;SB=-1046.64;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,70:134:99:1483,0,1315:0.522:99 chr4 5812974 rs16837692 C A 2044.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.869;DP=225;Dels=0.00;FS=1.033;HRun=1;HaplotypeScore=5.3589;MQ=46.57;MQ0=0;MQRankSum=0.444;QD=9.09;ReadPosRankSum=0.364;SB=-1730.37;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:118,107:225:99:2075,0,2346:0.476:99 chr4 5813426 . G A 100.79 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.247;DP=106;Dels=0.00;FS=7.968;HRun=1;HaplotypeScore=14.0863;MQ=44.60;MQ0=1;MQRankSum=-4.074;QD=0.95;ReadPosRankSum=-3.198;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,12:106:99:131,0,2213:0.113:99 chr4 5813439 . C T 167.50 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.593;DP=112;Dels=0.00;FS=18.395;HRun=0;HaplotypeScore=28.0308;MQ=45.05;MQ0=2;MQRankSum=-5.046;QD=1.50;ReadPosRankSum=-2.972;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,13:112:99:197,0,2179:0.116:99 chr4 5813473 . T C 216.63 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.761;DP=134;Dels=0.00;FS=30.213;HRun=0;HaplotypeScore=8.7459;MQ=45.04;MQ0=2;MQRankSum=-5.693;QD=1.62;ReadPosRankSum=2.862;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:117,17:134:99:247,0,2740:0.127:99 chr4 5813488 . G A 219.64 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.869;DP=136;Dels=0.00;FS=30.890;HRun=0;HaplotypeScore=15.3774;MQ=45.35;MQ0=0;MQRankSum=-5.968;QD=1.62;ReadPosRankSum=3.310;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:119,17:136:99:250,0,2705:0.125:99 chr4 5813489 . G A 111.40 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.128;DP=134;Dels=0.00;FS=15.367;HRun=0;HaplotypeScore=15.3774;MQ=45.35;MQ0=0;MQRankSum=-4.644;QD=0.83;ReadPosRankSum=3.284;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:120,14:134:99:141,0,2750:0.104:99 chr4 5813512 rs62297707 T C 711.32 SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.302;DP=127;Dels=0.00;FS=43.897;HRun=0;HaplotypeScore=7.4654;MQ=45.82;MQ0=0;MQRankSum=-6.547;QD=5.60;ReadPosRankSum=-0.849;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:97,30:127:99:741,0,2043:0.236:99 chr4 5813524 . C G 122.60 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.663;DP=133;Dels=0.00;FS=25.498;HRun=0;HaplotypeScore=33.7194;MQ=45.17;MQ0=3;MQRankSum=-5.637;QD=0.92;ReadPosRankSum=-1.601;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:118,14:133:99:153,0,2688:0.106:99 chr4 5813530 rs13147696 T A 103.82 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.201;DP=135;Dels=0.00;FS=16.551;HRun=0;HaplotypeScore=36.6647;MQ=44.40;MQ0=6;MQRankSum=-2.336;QD=0.77;ReadPosRankSum=-2.250;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:121,12:135:99:134,0,2615:0.090:99 chr4 5813534 . C T 45.62 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.080;DP=136;Dels=0.00;FS=23.118;HRun=0;HaplotypeScore=29.7181;MQ=43.96;MQ0=7;MQRankSum=-4.862;QD=0.34;ReadPosRankSum=-1.429;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:125,11:136:75.61:76,0,2823:0.081:45 chr4 5813560 . G T 290.35 SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.326;DP=107;Dels=0.01;FS=13.555;HRun=0;HaplotypeScore=34.0686;MQ=45.24;MQ0=7;MQRankSum=-5.996;QD=2.71;ReadPosRankSum=-4.986;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:81,24:106:99:320,0,1832:0.229:99 chr4 5813562 rs13101313 T G 377.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.247;DP=107;Dels=0.01;FS=7.366;HRun=2;HaplotypeScore=41.8331;MQ=45.24;MQ0=7;MQRankSum=-5.223;QD=3.53;ReadPosRankSum=-3.142;SB=-33.06;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:79,26:106:99:408,0,1749:0.248:99 chr4 5813695 rs6840435 T C 1536.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.136;DP=163;Dels=0.00;FS=3.773;HRun=2;HaplotypeScore=21.1394;MQ=43.50;MQ0=2;MQRankSum=-2.052;QD=9.43;ReadPosRankSum=-1.022;SB=-912.46;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,76:163:99:1566,0,1810:0.466:99 chr4 5813735 rs13121258 C G 97.64 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.602;DP=171;Dels=0.00;FS=23.059;HRun=0;HaplotypeScore=26.3139;MQ=42.78;MQ0=8;MQRankSum=-6.023;QD=0.57;ReadPosRankSum=-2.298;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:148,21:171:99:128,0,3135:0.124:97 chr4 5813759 rs71599846 T A 204.63 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.432;DP=182;Dels=0.00;FS=32.657;HRun=0;HaplotypeScore=32.7583;MQ=40.94;MQ0=13;MQRankSum=-7.225;QD=1.12;ReadPosRankSum=1.169;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:151,29:182:99:235,0,2953:0.161:99 chr4 5813783 rs13147919 A C 216.92 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.698;DP=171;Dels=0.01;FS=24.003;HRun=2;HaplotypeScore=67.5348;MQ=40.56;MQ0=7;MQRankSum=-6.647;QD=1.27;ReadPosRankSum=1.907;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:139,30:170:99:247,0,2773:0.178:99 chr4 5813798 rs62297708 G A 188.81 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.036;DP=170;Dels=0.00;FS=28.657;HRun=2;HaplotypeScore=39.6448;MQ=40.48;MQ0=7;MQRankSum=-7.056;QD=1.11;ReadPosRankSum=2.447;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:138,31:170:99:219,0,2557:0.183:99 chr4 5813824 rs71599848 A C 919.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.746;DP=207;Dels=0.00;FS=4.093;HRun=1;HaplotypeScore=63.8439;MQ=39.47;MQ0=14;MQRankSum=0.195;QD=4.44;ReadPosRankSum=1.682;SB=-604.95;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:133,74:207:99:949,0,2469:0.357:99 chr4 5813833 rs13147953 A G 131.86 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=3.555;DP=191;Dels=0.00;FS=7.980;HRun=2;HaplotypeScore=53.6463;MQ=40.06;MQ0=13;MQRankSum=-1.308;QD=0.69;ReadPosRankSum=-3.458;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:170,17:191:99:162,0,2848:0.091:99 chr4 5813847 rs71599850 T G 892.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.118;DP=187;Dels=0.00;FS=8.192;HRun=2;HaplotypeScore=37.6534;MQ=40.75;MQ0=14;MQRankSum=-0.973;QD=4.77;ReadPosRankSum=1.679;SB=-506.89;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:117,67:187:99:922,0,2201:0.364:99 chr4 5813876 rs28460555 T C 1263.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.549;DP=222;Dels=0.00;FS=1.969;HRun=0;HaplotypeScore=19.4768;MQ=41.19;MQ0=12;MQRankSum=-0.471;QD=5.69;ReadPosRankSum=-0.987;SB=-788.87;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:138,84:222:99:1294,0,2829:0.378:99 chr4 5813887 . A G 1283.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.663;DP=214;Dels=0.00;FS=2.729;HRun=1;HaplotypeScore=14.4933;MQ=42.21;MQ0=8;MQRankSum=-0.594;QD=6.00;ReadPosRankSum=-1.314;SB=-780.84;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:136,77:214:99:1313,0,2813:0.362:99 chr4 5813940 rs13121710 C A 191.19 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-2.732;DP=205;Dels=0.00;FS=0.953;HRun=0;HaplotypeScore=43.5918;MQ=41.15;MQ0=7;MQRankSum=-4.636;QD=0.93;ReadPosRankSum=-4.263;SB=-50.05;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:172,33:205:99:221,0,3392:0.161:99 chr4 5814082 rs67547790 G C 1035.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.629;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=34.3998;MQ=46.53;MQ0=2;MQRankSum=5.078;QD=7.14;ReadPosRankSum=3.088;SB=-675.39;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,50:145:99:1066,0,1910:0.345:99 chr4 5814607 rs68037492 CT C 1415.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.917;DP=79;FS=0.849;HRun=2;HaplotypeScore=13.2674;MQ=45.40;MQ0=0;MQRankSum=-0.025;QD=17.91;ReadPosRankSum=-1.603;SB=-692.18;TI=NM_153717;GI=EVC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,40:79:99:1454,0,1418:0.506:99 chr4 5815181 rs6848370 T C 98.15 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.736;DP=6;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=48.95;MQ0=0;MQRankSum=0.736;QD=16.36;ReadPosRankSum=0.736;SB=-80.66;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,5:6:9.03:130,9,0:0.833:9 chr4 5815381 rs3733186 G A 658.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.842;DP=88;Dels=0.00;FS=0.831;HRun=3;HaplotypeScore=5.5758;MQ=48.69;MQ0=0;MQRankSum=-0.793;QD=7.49;ReadPosRankSum=1.577;SB=-517.83;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,35:88:99:689,0,1061:0.398:99 chr4 5815444 rs3733187 G A 1169.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.962;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.85;MQ0=0;MQRankSum=0.543;QD=8.54;ReadPosRankSum=-1.408;SB=-1020.18;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,62:137:99:1200,0,1507:0.453:99 chr4 5815477 rs3733188 C T 1444.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.907;DP=176;Dels=0.00;FS=0.566;HRun=1;HaplotypeScore=3.7877;MQ=44.97;MQ0=0;MQRankSum=-0.736;QD=8.20;ReadPosRankSum=0.945;SB=-1166.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:100,76:176:99:1474,0,2040:0.432:99 chr4 5815635 rs3733189 C T 511.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.538;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9995;MQ=53.18;MQ0=0;MQRankSum=1.996;QD=9.83;ReadPosRankSum=-1.007;SB=-447.77;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,27:52:99:541,0,496:0.519:99 chr4 5815929 rs3755847 T C 438.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.428;DP=43;Dels=0.00;FS=1.192;HRun=0;HaplotypeScore=0.0000;MQ=42.85;MQ0=0;MQRankSum=-0.012;QD=10.19;ReadPosRankSum=1.749;SB=-405.12;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,24:43:99:468,0,405:0.558:99 chr4 56236328 rs2538 C T 1078.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.734;DP=79;Dels=0.00;FS=3.159;HRun=0;HaplotypeScore=2.8936;MQ=49.20;MQ0=0;MQRankSum=1.223;QD=13.65;ReadPosRankSum=1.313;SB=-600.30;TI=NM_024592;GI=SRD5A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,47:79:99:1109,0,736:0.595:99 chr4 56236579 rs13149568 C T 1405.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.052;DP=67;Dels=0.00;FS=22.401;HRun=0;HaplotypeScore=33.1763;MQ=48.31;MQ0=0;MQRankSum=4.865;QD=20.97;ReadPosRankSum=1.562;SB=-856.26;TI=NM_024592;GI=SRD5A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,55:67:99:1435,0,240:0.821:99 chr4 56236804 rs573960 G A 192.11 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.849;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=51.97;MQ0=0;MQRankSum=-0.694;QD=14.78;ReadPosRankSum=-2.546;SB=-135.35;TI=NM_024592;GI=SRD5A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,9:13:65.46:222,0,65:0.692:65 chr4 56237137 rs576732 C T 455.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.497;DP=88;Dels=0.00;FS=0.855;HRun=1;HaplotypeScore=1.8857;MQ=49.84;MQ0=0;MQRankSum=1.662;QD=5.17;ReadPosRankSum=1.716;SB=-425.43;TI=NM_024592;GI=SRD5A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,28:88:99:485,0,1308:0.318:99 chr4 56237327 rs501679 G A 1179.75 PASS AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.73;MQ0=0;QD=24.08;SB=-951.70;TI=NM_024592;GI=SRD5A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,49:49:84.28:1213,84,0:1.000:84 chr4 68603535 rs1038426 C A 1787.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.741;DP=168;Dels=0.00;FS=1.214;HRun=2;HaplotypeScore=5.4438;MQ=51.55;MQ0=0;MQRankSum=1.783;QD=10.64;ReadPosRankSum=1.773;SB=-1301.47;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:85,83:168:99:1817,0,1833:0.494:99 chr4 68603702 rs1038427 C T 350.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.564;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4599;MQ=58.27;MQ0=0;MQRankSum=0.154;QD=12.99;ReadPosRankSum=-1.179;SB=-103.89;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,13:27:99:381,0,384:0.500:99 chr4 68604032 rs7666201 C T 960.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.929;DP=99;Dels=0.00;FS=0.749;HRun=1;HaplotypeScore=0.0000;MQ=47.88;MQ0=0;MQRankSum=-0.671;QD=9.70;ReadPosRankSum=1.360;SB=-739.52;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,45:99:99:991,0,1199:0.455:99 chr4 68604143 rs17635749 C T 569.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.734;DP=37;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7882;MQ=57.96;MQ0=0;MQRankSum=-1.511;QD=15.40;ReadPosRankSum=-1.352;SB=-425.96;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,24:37:99:600,0,263:0.649:99 chr4 68604307 rs12508464 A C 937.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.279;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=46.07;MQ0=0;MQRankSum=-1.049;QD=12.17;ReadPosRankSum=0.615;SB=-735.62;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,45:77:99:967,0,620:0.584:99 chr4 68604938 rs13150734 C A 1075.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.377;DP=89;Dels=0.00;FS=2.829;HRun=1;HaplotypeScore=1.7882;MQ=49.21;MQ0=0;MQRankSum=2.094;QD=12.08;ReadPosRankSum=-0.021;SB=-845.13;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,51:89:99:1105,0,840:0.573:99 chr4 68605369 rs17635850 A G 706.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.681;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9995;MQ=58.98;MQ0=0;MQRankSum=0.316;QD=12.84;ReadPosRankSum=-0.742;SB=-66.25;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,23:55:99:736,0,1026:0.418:99 chr4 68605389 rs35683646 G A 850.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.777;DP=100;Dels=0.00;FS=1.625;HRun=0;HaplotypeScore=0.8941;MQ=46.37;MQ0=0;MQRankSum=-0.974;QD=8.50;ReadPosRankSum=-1.312;SB=-643.53;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,40:100:99:880,0,1463:0.400:99 chr4 68605396 rs35610027 C G 864.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.010;DP=106;Dels=0.00;FS=2.570;HRun=0;HaplotypeScore=0.8941;MQ=45.89;MQ0=0;MQRankSum=-1.010;QD=8.16;ReadPosRankSum=-1.383;SB=-639.41;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,43:106:99:895,0,1467:0.406:99 chr4 68605615 rs35845954 T C 1576.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.345;DP=208;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8874;MQ=51.18;MQ0=0;MQRankSum=2.039;QD=7.58;ReadPosRankSum=3.033;SB=-1250.49;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:127,81:208:99:1607,0,2617:0.389:99 chr4 68620277 rs2627260 T C 1462.01 PASS AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.71;MQ0=0;QD=26.58;SB=-1070.94;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,55:55:99:1495,105,0:1.000:99 chr4 68620957 rs6552113 T C 638.59 PASS AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.52;MQ0=0;QD=27.76;SB=-401.69;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,23:23:48.16:672,48,0:1.000:48 chr4 68621197 rs2062303 A G 627.87 PASS AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.30;SB=-430.85;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,23:23:48.16:661,48,0:1.000:48 chr4 68621308 rs2062302 A G 2259.20 PASS AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.82;MQ0=0;QD=23.53;SB=-1795.65;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,96:96:99:2292,157,0:1.000:99 chr4 68621332 rs2062301 C T 1633.35 PASS AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=43.80;MQ0=0;QD=23.67;SB=-1269.94;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,69:69:99:1666,114,0:1.000:99 chr4 68621550 rs13138607 G A 6752.64 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.660;DP=292;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6717;MQ=46.48;MQ0=0;MQRankSum=-0.853;QD=23.13;ReadPosRankSum=1.853;SB=-5579.82;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,290:292:99:6753,422,0:0.993:99 chr4 68621585 rs68081244 CA C 5642.62 R8 AC=2;AF=1.00;AN=2;BaseQRankSum=0.703;DP=210;FS=0.000;HRun=10;HaplotypeScore=848.1483;MQ=47.58;MQ0=0;MQRankSum=-1.391;QD=26.87;ReadPosRankSum=-1.336;SB=-2651.74;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:13,189:210:99:5643,372,0:0.936:99 chr4 78979141 rs34237418 C T 2942.62 PASS AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=47.00;MQ0=0;QD=22.46;SB=-2469.79;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,131:131:99:2976,205,0:1.000:99 chr4 78987157 rs4859905 A G 7933.07 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.071;DP=331;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.3641;MQ=49.93;MQ0=0;MQRankSum=-1.899;QD=23.97;ReadPosRankSum=-0.561;SB=-6141.38;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_D32G,Missense_D32G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,328:331:99:7933,509,0:0.994:99 chr4 79238649 rs345514 T C 2787.52 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.276;DP=124;Dels=0.00;FS=2.227;HRun=0;HaplotypeScore=1.7608;MQ=45.31;MQ0=0;MQRankSum=-0.813;QD=22.48;ReadPosRankSum=-1.431;SB=-2126.43;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Synonymous_H649H,Synonymous_H649H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,121:124:99:2821,119,0:0.976:99 chr4 79240063 rs345513 A G 735.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.362;DP=64;Dels=0.00;FS=2.043;HRun=1;HaplotypeScore=2.8937;MQ=49.84;MQ0=0;MQRankSum=-1.956;QD=11.49;ReadPosRankSum=-1.956;SB=-582.36;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_D687G,Missense_D687G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,35:64:99:765,0,591:0.547:99 chr4 79284694 rs6835769 C T 677.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.472;DP=68;Dels=0.00;FS=2.021;HRun=0;HaplotypeScore=1.7882;MQ=43.52;MQ0=0;MQRankSum=-0.877;QD=9.97;ReadPosRankSum=0.742;SB=-535.30;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_A817V,Missense_A817V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,34:68:99:708,0,753:0.500:99 chr4 79300899 rs35774552 T C 677.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.141;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=49.68;MQ0=0;MQRankSum=-1.615;QD=6.58;ReadPosRankSum=0.792;SB=-496.69;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Synonymous_S1104S,Synonymous_S1104S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,36:103:99:707,0,1441:0.350:99 chr4 79300993 rs12512164 G A 1345.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.603;DP=150;Dels=0.00;FS=2.047;HRun=2;HaplotypeScore=2.8097;MQ=47.95;MQ0=0;MQRankSum=-4.427;QD=8.97;ReadPosRankSum=1.150;SB=-1121.90;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_E1136K,Missense_E1136K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:81,69:150:99:1376,0,1781:0.460:99 chr4 79372930 rs753752 C T 10578.16 PASS AC=2;AF=1.00;AN=2;DP=411;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=48.38;MQ0=0;QD=25.74;SB=-7868.68;TI=NM_025074;GI=FRAS1;FC=Synonymous_H2156H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,411:411:99:10578,743,0:1.000:99 chr4 79385719 rs6851427 G A 1386.62 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.536;DP=136;Dels=0.00;FS=0.626;HRun=0;HaplotypeScore=2.6548;MQ=47.14;MQ0=0;MQRankSum=-0.964;QD=10.20;ReadPosRankSum=1.922;SB=-1194.90;TI=NM_025074;GI=FRAS1;FC=Synonymous_A2337A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,70:136:99:1417,0,1389:0.515:99 chr4 79387442 rs7660664 C T 1435.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.689;DP=136;Dels=0.00;FS=0.648;HRun=0;HaplotypeScore=4.4430;MQ=45.14;MQ0=0;MQRankSum=-0.559;QD=10.56;ReadPosRankSum=-0.777;SB=-1201.87;TI=NM_025074;GI=FRAS1;FC=Synonymous_H2370H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,73:136:99:1466,0,1219:0.537:99 chr4 79387464 rs7684722 A G 3077.46 PASS AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4651;MQ=45.50;MQ0=0;QD=22.63;SB=-2615.46;TI=NM_025074;GI=FRAS1;FC=Missense_K2378E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,136:136:99:3110,214,0:1.000:99 chr4 79400868 rs11098194 C T 200.91 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.254;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.07;MQ0=0;MQRankSum=0.085;QD=15.45;ReadPosRankSum=-0.761;SB=-146.90;TI=NM_025074;GI=FRAS1;FC=Synonymous_D2813D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,10:13:61.34:231,0,61:0.769:61 chr4 79437155 rs3749487 C T 980.22 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.024;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=45.59;MQ0=0;MQRankSum=-0.866;QD=22.28;ReadPosRankSum=-0.157;SB=-799.82;TI=NM_025074;GI=FRAS1;FC=Synonymous_T3459T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,43:44:34.61:1013,35,0:0.977:34 chr4 79447763 rs34670941 T C 1390.55 PASS AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.11;MQ0=0;QD=24.83;SB=-981.53;TI=NM_025074;GI=FRAS1;FC=Missense_V3626A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:56:99:1424,99,0:1.000:99 chr4 79455714 rs4975070 C G 4176.50 PASS AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=46.64;MQ0=0;QD=23.60;SB=-3450.02;TI=NM_025074;GI=FRAS1;FC=Synonymous_P3679P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,177:177:99:4176,286,0:1.000:99 chr4 79455733 rs4975139 C T 4790.83 PASS AC=2;AF=1.00;AN=2;DP=203;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=46.83;MQ0=0;QD=23.60;SB=-3935.47;TI=NM_025074;GI=FRAS1;FC=Synonymous_L3686L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,203:203:99:4791,328,0:1.000:99 chr4 79462311 rs72659058 T A 7204.13 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.400;DP=299;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.7776;MQ=54.77;MQ0=0;MQRankSum=0.792;QD=24.09;ReadPosRankSum=1.875;SB=-5463.35;TI=NM_025074;GI=FRAS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,297:299:99:7204,497,0:0.993:99 chr4 79464432 rs3811747 C T 2233.58 PASS AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=48.08;MQ0=0;QD=23.03;SB=-1784.56;TI=NM_025074;GI=FRAS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,97:97:99:2267,157,0:1.000:99 chr4 79464767 rs11098227 T C 1793.10 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.270;DP=75;Dels=0.00;FS=3.507;HRun=0;HaplotypeScore=2.8271;MQ=50.88;MQ0=0;MQRankSum=-0.300;QD=23.91;ReadPosRankSum=1.178;SB=-1240.12;TI=NM_025074;GI=FRAS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,74:75:92.44:1826,92,0:0.987:92 chr4 79464978 rs11098228 G A 5682.91 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.585;DP=236;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=48.90;MQ0=0;MQRankSum=-0.235;QD=24.08;ReadPosRankSum=-1.174;SB=-4575.28;TI=NM_025074;GI=FRAS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,235:236:99:5683,365,0:0.996:99 chr4 79465100 . A ATTTT 2463.31 PASS AC=2;AF=1.00;AN=2;DP=38;FS=0.000;HRun=2;HaplotypeScore=29.7531;MQ=55.63;MQ0=0;QD=64.82;SB=-618.11;TI=NM_025074;GI=FRAS1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,36:38:99:2505,111,0:1.000:99 chr4 80823880 rs71662883 A AT 283.04 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.860;DP=63;FS=5.313;HRun=12;HaplotypeScore=50.0516;MQ=54.01;MQ0=0;MQRankSum=1.498;QD=4.49;ReadPosRankSum=-0.729;SB=-96.78;TI=NM_058172;GI=ANTXR2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,17:63:99:322,0,606:0.354:99 chr4 80824525 rs75657044 T A 24.39 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.762;DP=9;Dels=0.00;FS=7.782;HRun=0;HaplotypeScore=0.0000;MQ=57.39;MQ0=0;MQRankSum=0.762;QD=2.71;ReadPosRankSum=-1.179;SB=-0.01;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:54.36:54,0,214:0.222:24 chr4 80824888 rs4611863 A G 2784.72 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.676;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=45.52;MQ0=0;MQRankSum=0.746;QD=22.64;ReadPosRankSum=-0.437;SB=-2386.46;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,122:123:99:2818,193,0:0.992:99 chr4 80825270 rs11292255 TA T 735.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.047;DP=41;FS=0.000;HRun=3;HaplotypeScore=26.8698;MQ=54.87;MQ0=0;MQRankSum=-0.285;QD=17.93;ReadPosRankSum=0.285;SB=-317.99;TI=NM_058172;GI=ANTXR2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,22:41:99:774,0,612:0.550:99 chr4 80827062 rs7747 T C 235.75 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=19.65;SB=-240.53;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,12:12:18.06:269,18,0:1.000:18 chr4 80827798 rs63539261 A G 805.94 PASS AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.72;MQ0=0;QD=29.85;SB=-519.21;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,27:27:60.20:839,60,0:1.000:60 chr4 80827799 rs72653260 A C 886.43 PASS AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.82;MQ0=0;QD=29.55;SB=-594.81;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,30:30:66.22:919,66,0:1.000:66 chr4 80828555 rs61048419 G A 1243.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.533;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=52.00;MQ0=0;MQRankSum=-1.725;QD=11.10;ReadPosRankSum=-1.643;SB=-987.52;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,59:112:99:1273,0,1240:0.527:99 chr4 80898808 rs35798108 C T 1826.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.642;DP=178;Dels=0.00;FS=1.863;HRun=0;HaplotypeScore=3.9983;MQ=46.97;MQ0=0;MQRankSum=-3.524;QD=10.26;ReadPosRankSum=0.015;SB=-1441.75;TI=NM_058172,NM_001145794;GI=ANTXR2,ANTXR2;FC=Synonymous_R465R,Synonymous_R465R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,91:178:99:1857,0,1813:0.511:99 chr4 80905990 rs12647691 C G 2853.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.649;DP=292;Dels=0.01;FS=0.435;HRun=4;HaplotypeScore=32.0871;MQ=49.15;MQ0=0;MQRankSum=-1.170;QD=9.77;ReadPosRankSum=-0.485;SB=-2082.49;TI=NM_058172,NM_001145794;GI=ANTXR2,ANTXR2;FC=Missense_A357P,Missense_A357P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:150,139:289:99:2884,0,3102:0.481:99 chr4 80905991 rs72653288 G T 2847.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.793;DP=289;Dels=0.00;FS=0.432;HRun=0;HaplotypeScore=22.0899;MQ=49.18;MQ0=0;MQRankSum=0.316;QD=9.85;ReadPosRankSum=0.084;SB=-2049.55;TI=NM_058172,NM_001145794;GI=ANTXR2,ANTXR2;FC=Synonymous_P356P,Synonymous_P356P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:151,137:289:99:2878,0,3196:0.476:99 chr4 80994124 rs72869605 C T 233.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.123;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=52.36;MQ0=0;MQRankSum=0.339;QD=9.71;ReadPosRankSum=0.400;SB=-203.78;TI=NM_058172,NM_001145794;GI=ANTXR2,ANTXR2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,12:24:99:263,0,242:0.522:99 chr4 84191031 rs6535454 A G 9153.07 PASS AC=2;AF=1.00;AN=2;DP=290;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6821;MQ=54.17;MQ0=0;QD=31.56;SB=-3857.57;TI=NM_015697;GI=COQ2;FC=Synonymous_D298D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,290:290:99:9153,668,0:1.000:99 chr4 84205872 rs6818847 C A 1141.10 PASS AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=43.24;MQ0=0;QD=23.77;SB=-819.01;TI=NM_015697;GI=COQ2;FC=Missense_V66L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,48:48:81.27:1174,81,0:1.000:81 chr4 88584148 rs2615498 C T 1359.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.721;DP=128;Dels=0.00;FS=1.388;HRun=0;HaplotypeScore=1.8936;MQ=42.84;MQ0=0;MQRankSum=-1.969;QD=10.62;ReadPosRankSum=-0.086;SB=-1133.26;TI=NM_001079911,NM_004407;GI=DMP1,DMP1;FC=Synonymous_S390S,Synonymous_S406S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,69:128:99:1390,0,1174:0.539:99 chr4 88584160 rs2615497 G A 1153.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.295;DP=114;Dels=0.00;FS=1.473;HRun=1;HaplotypeScore=0.9995;MQ=43.58;MQ0=0;MQRankSum=-0.715;QD=10.12;ReadPosRankSum=1.106;SB=-972.59;TI=NM_001079911,NM_004407;GI=DMP1,DMP1;FC=Synonymous_E394E,Synonymous_E410E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,59:114:99:1184,0,1137:0.518:99 chr4 88584507 rs2627724 G A 2207.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.027;DP=184;Dels=0.00;FS=2.587;HRun=3;HaplotypeScore=3.8602;MQ=54.69;MQ0=0;MQRankSum=0.392;QD=12.00;ReadPosRankSum=-1.004;SB=-1474.23;TI=NM_001079911,NM_004407;GI=DMP1,DMP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:88,96:184:99:2237,0,2230:0.522:99 chr4 88585079 rs2627725 A G 2118.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.716;DP=241;Dels=0.00;FS=2.973;HRun=3;HaplotypeScore=11.8345;MQ=48.82;MQ0=0;MQRankSum=-1.863;QD=8.79;ReadPosRankSum=-1.011;SB=-1499.97;TI=NM_001079911,NM_004407;GI=DMP1,DMP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:136,105:241:99:2148,0,3131:0.436:99 chr4 88585217 . ATT A,AT 1241.86 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-0.077;DP=72;FS=1.475;HaplotypeScore=103.4155;MQ=56.99;MQ0=0;MQRankSum=1.730;QD=17.25;ReadPosRankSum=1.253;SB=-441.75;TI=NM_001079911,NM_004407;GI=DMP1,DMP1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:16,20,0:72:99:1320,509,755,395,0,453:0.556:99 chr4 108931039 rs4956145 T C 11039.00 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.677;DP=440;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=11.2728;MQ=46.74;MQ0=0;MQRankSum=0.567;QD=25.09;ReadPosRankSum=0.118;SB=-7689.17;TI=NM_001184705,NM_005327;GI=HADH,HADH;FC=Missense_L86P,Missense_L86P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,439:440:99:11039,792,0:0.998:99 chr4 119201531 rs3842587 GTT G 3445.07 PASS AC=2;AF=1.00;AN=2;DP=74;FS=0.000;HRun=3;HaplotypeScore=40.4879;MQ=54.12;MQ0=0;QD=46.55;SB=-1416.00;TI=NM_003619;GI=PRSS12;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:73:99:3445,199,0:1.000:99 chr4 119259448 rs72677056 C T 898.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.241;DP=193;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=8.6431;MQ=47.04;MQ0=0;MQRankSum=-2.586;QD=4.65;ReadPosRankSum=0.577;SB=-717.11;TI=NM_003619;GI=PRSS12;FC=Missense_G175D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:138,53:191:99:928,0,2985:0.277:99 chr4 119273712 rs13119545 C G 76.27 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.134;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.44;MQ0=0;MQRankSum=2.533;QD=6.36;ReadPosRankSum=0.380;SB=-66.26;TI=NM_003619;GI=PRSS12;FC=Missense_R55T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,5:12:99:106,0,154:0.417:76 chr4 146576418 rs2270655 G C 1094.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.660;DP=91;Dels=0.00;FS=2.771;HRun=0;HaplotypeScore=0.0000;MQ=52.83;MQ0=0;MQRankSum=-0.155;QD=12.02;ReadPosRankSum=1.055;SB=-642.13;TI=NM_172250;GI=MMAA;FC=Missense_Q363H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,49:91:99:1124,0,845:0.538:99 chr4 146578529 . C CT 561.70 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.745;DP=56;FS=1.029;HRun=9;HaplotypeScore=51.4053;MQ=53.83;MQ0=0;MQRankSum=2.065;QD=10.03;ReadPosRankSum=-0.598;SB=-272.55;TI=NM_172250;GI=MMAA;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,26:56:99:601,0,706:0.481:99 chr4 146578728 rs72723824 T C 767.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.160;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.61;MQ0=0;MQRankSum=1.065;QD=10.52;ReadPosRankSum=0.491;SB=-611.39;TI=NM_172250;GI=MMAA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,37:73:99:798,0,717:0.507:99 chr4 146579194 rs7699187 T C 581.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.333;DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=45.62;MQ0=0;MQRankSum=-1.745;QD=12.38;ReadPosRankSum=-1.095;SB=-415.46;TI=NM_172250;GI=MMAA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,28:47:99:612,0,388:0.596:99 chr4 146579244 rs72723825 G A 199.80 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.163;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.43;MQ0=0;MQRankSum=2.657;QD=12.49;ReadPosRankSum=-2.224;SB=-134.49;TI=NM_172250;GI=MMAA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,10:16:99:230,0,107:0.625:99 chr4 146579354 rs7699166 A T 733.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.781;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45.15;MQ0=0;MQRankSum=-0.899;QD=10.48;ReadPosRankSum=-1.134;SB=-548.72;TI=NM_172250;GI=MMAA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,36:70:99:764,0,671:0.514:99 chr4 146580207 rs55770806 G A 1176.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.674;DP=131;Dels=0.00;FS=4.922;HRun=0;HaplotypeScore=0.8941;MQ=50.10;MQ0=0;MQRankSum=-0.204;QD=8.98;ReadPosRankSum=0.194;SB=-321.82;TI=NM_172250;GI=MMAA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,47:131:99:1207,0,2172:0.359:99 chr4 155507445 . A C 26.32 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.870;DP=65;Dels=0.00;FS=11.288;HRun=1;HaplotypeScore=1.7882;MQ=50.89;MQ0=0;MQRankSum=-4.023;QD=0.40;ReadPosRankSum=0.397;SB=-0.01;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Missense_V379G,Missense_V379G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,6:65:56.30:56,0,1588:0.092:26 chr4 155511897 rs2070011 T C 4898.35 PASS AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5261;MQ=45.04;MQ0=0;QD=23.11;SB=-4095.63;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,211:212:99:4898,334,0:1.000:99 chr4 159601676 rs11559290 C T 4019.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.028;DP=377;Dels=0.00;FS=0.375;HRun=0;HaplotypeScore=6.7646;MQ=50.66;MQ0=0;MQRankSum=0.881;QD=10.66;ReadPosRankSum=-0.249;SB=-2819.64;TI=NM_004453;GI=ETFDH;FC=Missense_T31I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:198,179:377:99:4019,0,4482:0.475:99 chr4 159629814 rs17843966 A C 2425.57 PASS AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51.88;MQ0=0;QD=27.25;SB=-1211.33;TI=NM_004453;GI=ETFDH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,89:89:99:2459,175,0:1.000:99 chr4 186997767 rs3775296 C A 40.20 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=60.00;MQ0=0;MQRankSum=0.736;QD=13.40;ReadPosRankSum=-0.736;SB=-0.01;TI=NM_003265;GI=TLR3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:31.62:70,0,32:0.667:31 chr4 187004217 rs3775290 C T 620.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.201;DP=50;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.8941;MQ=52.89;MQ0=0;MQRankSum=2.811;QD=12.40;ReadPosRankSum=-1.907;SB=-450.92;TI=NM_003265;GI=TLR3;FC=Synonymous_F459F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,29:50:99:650,0,468:0.580:99 chr5 6633042 rs10062086 C T 2544.80 PASS AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=43.09;MQ0=0;QD=24.24;SB=-1793.21;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Synonymous_E17E,Synonymous_E17E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,105:105:99:2578,181,0:1.000:99 chr5 6633222 rs4702373 C T 5893.59 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.781;DP=228;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.7739;MQ=48.61;MQ0=0;MQRankSum=0.834;QD=25.85;ReadPosRankSum=-1.437;SB=-3800.19;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,226:228:99:5894,377,0:0.991:99 chr5 6633307 . TA T 8858.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.905;DP=465;FS=2.380;HRun=2;HaplotypeScore=582.5087;MQ=48.54;MQ0=0;MQRankSum=0.651;QD=19.05;ReadPosRankSum=-0.535;SB=-4418.74;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:218,247:465:99:8858,0,7577:0.531:99 chr5 33989518 rs2278008 C T 10111.52 PASS AC=2;AF=1.00;AN=2;DP=403;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.5581;MQ=52.03;MQ0=0;QD=25.09;SB=-7416.50;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 1/1:0,403:403:99:10112,698,0:1.000:99 chr5 33998768 rs34677 C A 2123.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.065;DP=195;Dels=0.00;FS=4.161;HRun=2;HaplotypeScore=8.4530;MQ=50.21;MQ0=0;MQRankSum=2.935;QD=10.89;ReadPosRankSum=0.669;SB=-1550.78;TI=NM_014324,NM_001167595,NM_203382,NM_001167597,NM_001167596,NM_001167598;GI=AMACR,AMACR,AMACR,AMACR,AMACR,AMACR;FC=Missense_Q239H,Missense_Q239H,Missense_V186F,Missense_V186F,Missense_Q239H,Missense_Q239H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:96,99:195:99:2154,0,2080:0.508:99 chr5 33998883 rs2287939 A G 9385.90 PASS AC=2;AF=1.00;AN=2;DP=346;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=51.09;MQ0=0;QD=27.13;SB=-5303.06;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 1/1:0,345:346:99:9386,662,0:1.000:99 chr5 34004707 rs10941112 C T 994.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.438;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9993;MQ=48.31;MQ0=0;MQRankSum=2.656;QD=9.56;ReadPosRankSum=-0.144;SB=-481.49;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 0/1:64,40:104:99:1025,0,1484:0.385:99 chr5 34008100 rs3195676 C T 1284.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.469;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6921;MQ=41.75;MQ0=0;MQRankSum=-1.878;QD=7.83;ReadPosRankSum=1.247;SB=-1040.54;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 0/1:96,68:164:99:1314,0,1957:0.415:99 chr5 38476624 . CT C 67.04 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.874;DP=32;FS=1.822;HRun=12;HaplotypeScore=75.2565;MQ=55.85;MQ0=0;MQRankSum=1.016;QD=2.09;ReadPosRankSum=-1.016;SB=-52.19;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,7:32:99:106,0,472:0.250:67 chr5 38476769 . CA C 717.32 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.210;DP=259;FS=4.828;HRun=11;HaplotypeScore=171.4513;MQ=51.65;MQ0=0;MQRankSum=2.035;QD=2.77;ReadPosRankSum=-1.396;SB=-332.59;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:188,51:259:99:756,0,4678:0.213:99 chr5 38556685 . G C 431.61 LowDP AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=36.62;MQ0=0;QD=22.72;SB=-349.01;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,19:19:33.11:465,33,0:1.000:33 chr5 38595472 rs55892837 A C 787.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.301;DP=103;Dels=0.00;FS=0.743;HRun=1;HaplotypeScore=0.0000;MQ=45.65;MQ0=0;MQRankSum=-0.331;QD=7.64;ReadPosRankSum=-0.933;SB=-645.57;TI=NM_002310;GI=LIFR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,43:103:99:817,0,1220:0.417:99 chr5 52856504 rs2279516 G C 1452.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.995;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8662;MQ=51.93;MQ0=0;MQRankSum=0.013;QD=9.31;ReadPosRankSum=-1.282;SB=-832.80;TI=NM_002495;GI=NDUFS4;FC=Synonymous_V4V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:90,66:156:99:1483,0,2235:0.423:99 chr5 52942083 rs31304 A C 2970.66 PASS AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5737;MQ=49.51;MQ0=0;QD=25.39;SB=-1896.16;TI=NM_002495;GI=NDUFS4;FC=Synonymous_G66G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,117:117:99:3004,211,0:1.000:99 chr5 52942197 rs31303 A G 5043.20 PASS AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=49.96;MQ0=0;QD=24.36;SB=-4011.53;TI=NM_002495;GI=NDUFS4;FC=Synonymous_R104R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,207:207:99:5043,349,0:1.000:99 chr5 52979097 rs567 G A 5023.68 PASS AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50.68;MQ0=0;QD=25.24;SB=-3589.71;TI=NM_002495;GI=NDUFS4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,199:199:99:5024,349,0:1.000:99 chr5 60240986 rs158922 A G 1763.05 PASS AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=46.63;MQ0=0;QD=24.49;SB=-1271.73;TI=NM_174889;GI=NDUFAF2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,72:72:99:1796,126,0:1.000:99 chr5 60241142 rs158921;rs79660491 G A 2111.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.041;DP=147;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8665;MQ=37.45;MQ0=38;MQRankSum=5.013;QD=14.36;ReadPosRankSum=3.863;SB=-1500.03;TI=NM_174889;GI=NDUFAF2;FC=Synonymous_K20K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,105:147:99:2141,0,127:0.714:99 chr5 73981270 rs820878 T C 4992.48 PASS AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0285;MQ=47.69;MQ0=0;QD=25.09;SB=-3803.74;TI=NM_000521;GI=HEXB;FC=Missense_L62S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,199:199:99:4992,346,0:1.000:99 chr5 77298619 rs11552314 A T 2700.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.001;DP=273;Dels=0.00;FS=0.919;HRun=1;HaplotypeScore=7.5753;MQ=47.25;MQ0=0;MQRankSum=-2.576;QD=9.89;ReadPosRankSum=3.104;SB=-2082.57;TI=NM_003664;GI=AP3B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:141,132:273:99:2730,0,3045:0.484:99 chr5 77412011 rs42360 A G 5406.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.241;DP=486;Dels=0.00;FS=0.336;HRun=1;HaplotypeScore=5.5753;MQ=52.16;MQ0=0;MQRankSum=3.034;QD=11.12;ReadPosRankSum=3.035;SB=-3012.00;TI=NM_003664;GI=AP3B1;FC=Synonymous_A672A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:251,235:486:99:5407,0,5845:0.484:99 chr5 77425028 rs6453373 A T 9760.84 PASS AC=2;AF=1.00;AN=2;DP=400;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.5186;MQ=47.67;MQ0=0;QD=24.40;SB=-7716.48;TI=NM_003664;GI=AP3B1;FC=Missense_V585E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,400:400:99:9761,674,0:1.000:99 chr5 77473165 rs4532349 A G 5101.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.934;DP=463;Dels=0.00;FS=1.935;HRun=0;HaplotypeScore=5.3863;MQ=52.13;MQ0=0;MQRankSum=1.920;QD=11.02;ReadPosRankSum=3.477;SB=-3944.17;TI=NM_003664;GI=AP3B1;FC=Synonymous_N346N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:226,237:463:99:5102,0,4742:0.512:99 chr5 78073039 rs11750774 A C 1102.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.525;DP=94;Dels=0.00;FS=1.688;HRun=0;HaplotypeScore=3.6819;MQ=53.91;MQ0=0;MQRankSum=0.501;QD=11.73;ReadPosRankSum=0.873;SB=-803.65;TI=NM_000046;GI=ARSB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,51:94:99:1133,0,912:0.543:99 chr5 78073245 rs3088247 C A 368.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.020;DP=32;Dels=0.00;FS=3.093;HRun=0;HaplotypeScore=1.9996;MQ=58.83;MQ0=0;MQRankSum=0.642;QD=11.52;ReadPosRankSum=-1.624;SB=-276.07;TI=NM_000046;GI=ARSB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,17:32:99:398,0,427:0.531:99 chr5 78073702 rs78238742 G A 14.26 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.720;DP=6;Dels=0.00;FS=3.979;HRun=3;HaplotypeScore=1.9877;MQ=41.96;MQ0=0;MQRankSum=-0.720;QD=2.38;ReadPosRankSum=-1.380;SB=0.01;TI=NM_000046;GI=ARSB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:44.09:44,0,83:0.333:14 chr5 78074918 rs754566 C A 1083.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.984;DP=117;Dels=0.00;FS=0.685;HRun=2;HaplotypeScore=0.8941;MQ=48.14;MQ0=0;MQRankSum=0.935;QD=9.26;ReadPosRankSum=1.791;SB=-925.80;TI=NM_000046;GI=ARSB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,57:117:99:1114,0,1190:0.487:99 chr5 78181423 rs17220759 C T 945.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.322;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=45.96;MQ0=0;MQRankSum=0.734;QD=12.60;ReadPosRankSum=-1.529;SB=-768.84;TI=NM_000046,NM_198709;GI=ARSB,ARSB;FC=Missense_V376M,Missense_V376M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,46:75:99:975,0,578:0.613:99 chr5 78181477 rs1065757 C T 1115.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.956;DP=113;Dels=0.00;FS=0.693;HRun=0;HaplotypeScore=1.7882;MQ=45.60;MQ0=0;MQRankSum=-2.864;QD=9.87;ReadPosRankSum=0.279;SB=-988.00;TI=NM_000046,NM_198709;GI=ARSB,ARSB;FC=Missense_V358M,Missense_V358M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,58:113:99:1145,0,1127:0.513:99 chr5 78181577 rs72762973 T C 563.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DP=94;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.7256;MQ=43.76;MQ0=0;MQRankSum=-1.541;QD=5.99;ReadPosRankSum=-1.385;SB=-441.54;TI=NM_000046,NM_198709;GI=ARSB,ARSB;FC=Synonymous_G324G,Synonymous_G324G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,30:94:99:593,0,1314:0.323:99 chr5 78281373 rs163127 T C 7471.50 PASS AC=2;AF=1.00;AN=2;DP=303;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=32.8402;MQ=52.23;MQ0=0;QD=24.66;SB=-5656.25;TI=NM_000046,NM_198709;GI=ARSB,ARSB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,302:303:99:7471,521,0:1.000:99 chr5 89969880 rs72782753 A G 3854.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.019;DP=323;Dels=0.00;FS=0.404;HRun=0;HaplotypeScore=3.6987;MQ=51.37;MQ0=0;MQRankSum=2.513;QD=11.93;ReadPosRankSum=-0.859;SB=-2654.54;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_I1647V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:160,163:323:99:3855,0,3550:0.505:99 chr5 90107108 rs2438374 A G 1733.00 PASS AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6766;MQ=47.14;MQ0=0;QD=25.49;SB=-1150.50;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_E5344G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,68:68:99:1766,123,0:1.000:99 chr5 90119324 rs2438378 G A 5475.00 PASS AC=2;AF=1.00;AN=2;DP=221;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.59;MQ0=0;QD=24.77;SB=-4171.44;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_V5427M;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,221:221:99:5475,379,0:1.000:99 chr5 90151630 rs56382582 C G 2344.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.893;DP=193;Dels=0.00;FS=2.497;HRun=0;HaplotypeScore=3.8830;MQ=47.16;MQ0=0;MQRankSum=-1.860;QD=12.15;ReadPosRankSum=3.254;SB=-1675.78;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_H5889Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,102:193:99:2375,0,2150:0.528:99 chr5 118860938 rs11539471 T C 2535.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.596;DP=293;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6435;MQ=48.80;MQ0=0;MQRankSum=0.483;QD=8.65;ReadPosRankSum=-0.440;SB=-2040.14;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 0/1:165,128:293:99:2565,0,3468:0.437:99 chr5 118861713 rs11205 A G 3951.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.721;DP=420;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4616;MQ=49.67;MQ0=0;MQRankSum=0.391;QD=9.41;ReadPosRankSum=0.593;SB=-2909.37;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 0/1:234,186:420:99:3951,0,4930:0.443:99 chr5 118877933 . T TA 4362.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=14.494;DP=317;FS=6.114;HRun=6;HaplotypeScore=661.1512;MQ=55.68;MQ0=0;MQRankSum=6.149;QD=13.76;ReadPosRankSum=0.364;SB=-1477.91;TI=NM_000414,NM_001199292,NM_001199291;GI=HSD17B4,HSD17B4,HSD17B4;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:158,156:317:99:4362,0,4590:0.497:99 chr5 118877949 rs28943596 A G 4679.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.847;DP=361;Dels=0.00;FS=6.320;HRun=1;HaplotypeScore=5.6752;MQ=55.69;MQ0=0;MQRankSum=6.427;QD=12.96;ReadPosRankSum=0.313;SB=-2279.48;TI=NM_000414,NM_001199292,NM_001199291;GI=HSD17B4,HSD17B4,HSD17B4;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:180,181:361:99:4680,0,4094:0.501:99 chr5 125878954 rs5871218 CA C 6476.46 PASS AC=2;AF=1.00;AN=2;DP=197;FS=0.000;HRun=8;HaplotypeScore=859.2434;MQ=53.82;MQ0=0;QD=32.88;SB=-3139.82;TI=NM_001182;GI=ALDH7A1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,192:197:99:6476,578,0:0.975:99 chr5 125879549 rs1483780 C T 755.99 PASS AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.08;MQ0=0;QD=28.00;SB=-395.41;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,27:27:57.19:789,57,0:1.000:57 chr5 125879656 . C CT 38.78 LowGQ;LowGQX;R8;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=-1.179;DP=9;FS=3.802;HRun=20;HaplotypeScore=43.9614;MQ=33.93;MQ0=0;MQRankSum=-1.179;QD=4.31;ReadPosRankSum=1.179;SB=-12.93;TI=NM_001182;GI=ALDH7A1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:9:4.98:79,5,0:1.000:4 chr5 125879677 rs74892068 G T 43.12 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.248;DP=9;Dels=0.00;FS=3.680;HRun=20;HaplotypeScore=1.7882;MQ=33.93;MQ0=0;MQRankSum=0.573;QD=4.79;ReadPosRankSum=-2.054;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,3:9:73.12:73,0,87:0.333:43 chr5 125879822 . G T 35.63 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=17.81;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr5 125879824 . A T 35.63 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=17.81;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr5 125879831 . G T 35.63 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=17.81;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr5 125879840 . 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_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr5 125879843 . 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_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr5 125879845 . 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_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr5 125879850 rs1807 G C 44.35 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=22.18;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:76,6,0:1.000:6 chr5 125879981 rs7447380 G A 1693.67 PASS AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.03;MQ0=0;QD=22.89;SB=-1394.96;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,74:74:99:1727,117,0:1.000:99 chr5 125880589 rs2775 T C 2942.14 PASS AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=54.85;MQ0=0;QD=25.15;SB=-2202.06;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,117:117:99:2975,208,0:1.000:99 chr5 125930831 rs1049214 T C 124.41 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.260;DP=145;Dels=0.00;FS=33.310;HRun=2;HaplotypeScore=4.5046;MQ=41.03;MQ0=0;MQRankSum=-5.941;QD=0.86;ReadPosRankSum=-4.398;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Synonymous_G20G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:132,13:145:99:154,0,2833:0.090:99 chr5 125930834 . A T 159.92 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.367;DP=141;Dels=0.00;FS=36.037;HRun=0;HaplotypeScore=4.5046;MQ=41.14;MQ0=0;MQRankSum=-5.804;QD=1.13;ReadPosRankSum=-3.617;SB=-0.01;TI=NM_001182;GI=ALDH7A1;FC=Synonymous_S19S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:128,13:141:99:190,0,2740:0.092:99 chr5 131705458 rs2631367 C G 595.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.259;DP=50;Dels=0.00;FS=1.116;HRun=1;HaplotypeScore=2.6548;MQ=40.27;MQ0=0;MQRankSum=-0.580;QD=11.92;ReadPosRankSum=-2.119;SB=-517.46;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,31:50:99:626,0,313:0.620:99 chr5 131705949 rs2631365;rs61742215 T C 977.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.714;DP=96;Dels=0.00;FS=1.695;HRun=0;HaplotypeScore=0.8667;MQ=52.74;MQ0=4;MQRankSum=-0.176;QD=10.18;ReadPosRankSum=0.105;SB=-719.66;TI=NM_003060;GI=SLC22A5;FC=Synonymous_L95L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,50:96:99:1007,0,1006:0.521:99 chr5 131721174 rs274558 A G 2171.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.516;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=45.24;MQ0=0;MQRankSum=-0.676;QD=10.80;ReadPosRankSum=0.669;SB=-1738.92;TI=NM_003060;GI=SLC22A5;FC=Synonymous_L269L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:96,105:201:99:2201,0,1961:0.522:99 chr5 131730011 rs1045020 C T 844.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.349;DP=96;Dels=0.00;FS=0.771;HRun=0;HaplotypeScore=2.7855;MQ=51.66;MQ0=0;MQRankSum=-1.055;QD=8.80;ReadPosRankSum=-2.489;SB=-667.62;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,44:96:99:874,0,1148:0.458:99 chr5 131730052 rs67581670 CA C 1201.03 PASS AC=2;AF=1.00;AN=2;DP=38;FS=0.000;HRun=4;HaplotypeScore=59.8087;MQ=59.26;MQ0=0;QD=31.61;SB=-427.63;TI=NM_003060;GI=SLC22A5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,32:38:96.30:1243,96,0:0.865:96 chr5 131730807 rs274548 T C 2143.84 PASS AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=44.21;MQ0=0;QD=27.84;SB=-1045.35;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,77:77:99:2177,169,0:1.000:99 chr5 131730903 . CTT C 359.03 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.631;DP=86;FS=1.087;HRun=17;HaplotypeScore=609.6360;MQ=40.81;MQ0=0;MQRankSum=1.365;QD=4.17;ReadPosRankSum=0.439;SB=-129.41;TI=NM_003060;GI=SLC22A5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,12:86:99:398,0,880:0.167:99 chr5 131730920 rs72795171 T A 353.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.165;DP=87;Dels=0.00;FS=1.009;HRun=4;HaplotypeScore=75.3132;MQ=41.32;MQ0=0;MQRankSum=0.570;QD=4.07;ReadPosRankSum=-0.600;SB=-176.05;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,21:87:99:384,0,1786:0.241:99 chr5 131730923 rs9686866 A C 393.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-3.271;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=75.2157;MQ=41.17;MQ0=0;MQRankSum=0.371;QD=4.63;ReadPosRankSum=-1.134;SB=-219.93;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,22:85:99:423,0,1753:0.262:99 chr5 131730923 rs14701 A AC 3610.08 PASS AC=2;AF=1.00;AN=2;DP=85;FS=0.000;HRun=0;HaplotypeScore=325.4842;MQ=41.17;MQ0=0;QD=42.47;SB=-1466.25;TI=NM_003060;GI=SLC22A5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:26,59:85:99:3610,250,0:0.694:99 chr5 131731106 rs62385689 C T 1843.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DP=191;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=49.31;MQ0=0;MQRankSum=-1.055;QD=9.65;ReadPosRankSum=0.004;SB=-1384.54;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:100,91:191:99:1874,0,2100:0.476:99 chr5 131731304 rs274547 A T 5995.90 PASS AC=2;AF=1.00;AN=2;DP=243;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54.38;MQ0=0;QD=24.67;SB=-4372.08;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,243:243:99:5996,412,0:1.000:99 chr5 132203952 rs55767930 G A 810.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.655;DP=72;Dels=0.00;FS=0.900;HRun=0;HaplotypeScore=0.9159;MQ=43.06;MQ0=0;MQRankSum=-1.119;QD=11.25;ReadPosRankSum=-0.362;SB=-566.14;TI=NM_014402;GI=UQCRQ;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,39:72:99:840,0,687:0.542:99 chr5 132203997 rs17166297 A G 718.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.909;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=43.05;MQ0=0;MQRankSum=-1.926;QD=8.35;ReadPosRankSum=-0.204;SB=-619.07;TI=NM_014402;GI=UQCRQ;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,38:86:99:748,0,1008:0.442:99 chr5 132204031 rs17624157 G A 534.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.723;DP=59;Dels=0.00;FS=0.988;HRun=0;HaplotypeScore=1.8920;MQ=45.13;MQ0=0;MQRankSum=-0.539;QD=9.05;ReadPosRankSum=0.873;SB=-463.15;TI=NM_014402;GI=UQCRQ;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,28:59:99:564,0,649:0.475:99 chr5 138456815 rs3088052 T C 2972.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.879;DP=359;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.7011;MQ=45.70;MQ0=0;MQRankSum=-0.535;QD=8.28;ReadPosRankSum=1.822;SB=-2277.93;TI=NM_022464,NM_001037633;GI=SIL1,SIL1;FC=Synonymous_T51T,Synonymous_T51T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:214,145:359:99:3002,0,4607:0.404:99 chr5 149360877 rs30832 T C 3985.79 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.647;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4081;MQ=47.79;MQ0=0;MQRankSum=-1.411;QD=24.60;ReadPosRankSum=1.262;SB=-2962.61;TI=NM_000112;GI=SLC26A2;FC=Missense_I574T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,161:162:99:3986,277,0:0.994:99 chr5 149362584 . TA T 96.03 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.850;DP=75;FS=0.000;HRun=13;HaplotypeScore=91.1133;MQ=57.10;MQ0=0;MQRankSum=1.617;QD=1.28;ReadPosRankSum=0.768;SB=-28.32;TI=NM_000112;GI=SLC26A2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,11:75:99:135,0,974:0.183:96 chr5 149364780 rs30833 C T 1170.13 PASS AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9998;MQ=47.35;MQ0=0;QD=25.44;SB=-799.84;TI=NM_000112;GI=SLC26A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,46:46:84.28:1203,84,0:1.000:84 chr5 158742014 rs1368439 G T 11264.38 PASS AC=2;AF=1.00;AN=2;DP=465;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2802;MQ=49.91;MQ0=0;QD=24.22;SB=-8877.42;TI=NM_002187;GI=IL12B;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,465:465:99:11264,777,0:1.000:99 chr5 176721198 rs28580074 T C 9366.04 PASS AC=2;AF=1.00;AN=2;DP=389;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7670;MQ=46.23;MQ0=0;QD=24.08;SB=-7467.79;TI=NM_172349,NM_022455;GI=NSD1,NSD1;FC=Synonymous_L2008L,Synonymous_L2277L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,389:389:99:9366,641,0:1.000:99 chr5 176721272 rs11740250 G C 1933.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.945;DP=163;Dels=0.00;FS=1.977;HRun=0;HaplotypeScore=1.9995;MQ=48.80;MQ0=0;MQRankSum=1.448;QD=11.86;ReadPosRankSum=0.354;SB=-1262.93;TI=NM_172349,NM_022455;GI=NSD1,NSD1;FC=Synonymous_G2032G,Synonymous_G2301G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,85:163:99:1963,0,1521:0.528:99 chr5 177419587 rs2233788 A G 1968.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.648;DP=213;Dels=0.00;FS=0.505;HRun=0;HaplotypeScore=3.8869;MQ=42.87;MQ0=0;MQRankSum=-1.505;QD=9.24;ReadPosRankSum=0.973;SB=-1612.15;TI=NM_006261;GI=PROP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:110,103:213:99:1998,0,2249:0.484:99 chr5 177422876 rs7445271 T C 1664.71 PASS AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.46;MQ0=0;QD=24.48;SB=-1129.03;TI=NM_006261;GI=PROP1;FC=Missense_N20S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,68:68:99:1698,117,0:1.000:99 chr5 177422908 rs1135320 A G 857.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.997;DP=102;Dels=0.00;FS=0.759;HRun=1;HaplotypeScore=4.8930;MQ=49.84;MQ0=0;MQRankSum=2.548;QD=8.41;ReadPosRankSum=2.211;SB=-657.00;TI=NM_006261;GI=PROP1;FC=Synonymous_A9A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,45:102:99:887,0,1130:0.441:99 chr6 7542253 rs77445784 G A 656.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.595;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=47.57;MQ0=0;MQRankSum=1.553;QD=12.88;ReadPosRankSum=0.820;SB=-420.41;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_G35G,Synonymous_G35G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,31:51:99:687,0,394:0.608:99 chr6 7563983 rs2806234 T G 11888.34 PASS AC=2;AF=1.00;AN=2;DP=480;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=51.70;MQ0=0;QD=24.77;SB=-8900.43;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_A247A,Synonymous_A247A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,480:480:99:11888,825,0:1.000:99 chr6 7572262 rs2076304 A G 3821.79 PASS AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=44.60;MQ0=0;QD=25.48;SB=-2767.98;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_G697G,Synonymous_G697G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,150:150:99:3822,265,0:1.000:99 chr6 7576527 rs1016835 G A 8401.18 PASS AC=2;AF=1.00;AN=2;DP=340;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0362;MQ=51.89;MQ0=0;QD=24.71;SB=-6094.38;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Unknown_877,Unknown_877;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,340:340:99:8401,587,0:1.000:99 chr6 7584617 rs2076300 C T 1231.64 PASS AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.91;MQ0=0;QD=24.15;SB=-953.77;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_T2374T,Synonymous_T1775T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,51:51:87.29:1265,87,0:1.000:87 chr6 7585967 rs2744380 G C 655.71 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.70;MQ0=0;QD=25.22;SB=-389.97;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_G2824G,Synonymous_G2225G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,26:26:48.16:689,48,0:1.000:48 chr6 18120775 rs72839174 A T 1624.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.783;DP=137;Dels=0.00;FS=3.155;HRun=1;HaplotypeScore=3.5764;MQ=48.19;MQ0=0;MQRankSum=1.278;QD=11.86;ReadPosRankSum=0.188;SB=-1134.65;TI=NM_198586;GI=NHLRC1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,75:137:99:1655,0,1277:0.547:99 chr6 24503590 rs2760118 C T 1787.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.759;DP=161;Dels=0.00;FS=2.824;HRun=0;HaplotypeScore=3.6655;MQ=47.79;MQ0=0;MQRankSum=-1.757;QD=11.10;ReadPosRankSum=-0.368;SB=-1349.26;TI=NM_001080,NM_170740;GI=ALDH5A1,ALDH5A1;FC=Missense_H180Y,Missense_H180Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,88:161:99:1818,0,1653:0.547:99 chr6 24534193 rs1054899 C A 471.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.171;DP=45;Dels=0.00;FS=4.300;HRun=0;HaplotypeScore=2.6823;MQ=41.88;MQ0=0;MQRankSum=-0.628;QD=10.49;ReadPosRankSum=1.725;SB=-387.10;TI=NM_001080,NM_170740;GI=ALDH5A1,ALDH5A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,25:45:99:502,0,438:0.556:99 chr6 24534325 rs13218365 G C 40.37 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.221;DP=8;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=55.16;MQ0=0;MQRankSum=-1.920;QD=5.05;ReadPosRankSum=0.322;SB=-30.98;TI=NM_001080,NM_170740;GI=ALDH5A1,ALDH5A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,3:8:70.37:70,0,115:0.375:40 chr6 24535208 rs12190214 C A 1920.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.362;DP=170;Dels=0.00;FS=1.935;HRun=6;HaplotypeScore=12.1740;MQ=52.10;MQ0=0;MQRankSum=0.617;QD=11.30;ReadPosRankSum=-0.122;SB=-1292.06;TI=NM_001080,NM_170740;GI=ALDH5A1,ALDH5A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,87:170:99:1950,0,1930:0.512:99 chr6 24535780 rs2744602 G A 163.04 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.412;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.120;QD=10.87;ReadPosRankSum=-2.062;SB=-0.01;TI=NM_001080,NM_170740;GI=ALDH5A1,ALDH5A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,6:15:99:193,0,315:0.400:99 chr6 24535999 rs13196003 C T 956.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.313;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=47.55;MQ0=0;MQRankSum=-1.592;QD=11.25;ReadPosRankSum=-0.410;SB=-667.20;TI=NM_001080,NM_170740;GI=ALDH5A1,ALDH5A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,46:85:99:986,0,836:0.541:99 chr6 24536055 rs34809203 C T 2542.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.528;DP=205;Dels=0.00;FS=1.740;HRun=0;HaplotypeScore=0.8941;MQ=46.16;MQ0=0;MQRankSum=-2.296;QD=12.40;ReadPosRankSum=0.008;SB=-1786.24;TI=NM_001080,NM_170740;GI=ALDH5A1,ALDH5A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,119:205:99:2573,0,1723:0.580:99 chr6 24536706 rs13197086 G A 998.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.584;DP=108;Dels=0.00;FS=1.553;HRun=3;HaplotypeScore=1.8938;MQ=46.13;MQ0=0;MQRankSum=0.294;QD=9.24;ReadPosRankSum=-0.510;SB=-649.62;TI=NM_001080,NM_170740;GI=ALDH5A1,ALDH5A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,48:108:99:1028,0,1235:0.444:99 chr6 39895410 rs3008822 T C 1039.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.344;DP=148;Dels=0.00;FS=0.631;HRun=0;HaplotypeScore=3.7491;MQ=45.71;MQ0=0;MQRankSum=-1.476;QD=7.02;ReadPosRankSum=-0.388;SB=-760.49;TI=NM_005943,NR_033233,NM_001075098;GI=MOCS1,MOCS1,MOCS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,54:148:99:1069,0,1949:0.365:99 chr6 49398115 rs9381784 C T 2075.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.761;DP=266;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=47.66;MQ0=0;MQRankSum=2.400;QD=7.80;ReadPosRankSum=0.338;SB=-1621.26;TI=NM_000255;GI=MUT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:160,106:266:99:2106,0,3303:0.398:99 chr6 49398861 rs11757098 T C 3866.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.196;DP=367;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7827;MQ=53.24;MQ0=0;MQRankSum=1.375;QD=10.53;ReadPosRankSum=-1.229;SB=-2841.47;TI=NM_000255;GI=MUT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:185,182:367:99:3866,0,4013:0.496:99 chr6 49403282 rs8589 T C 1785.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.809;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.1405;MQ=43.89;MQ0=0;MQRankSum=-2.200;QD=8.42;ReadPosRankSum=-1.372;SB=-1426.62;TI=NM_000255;GI=MUT;FC=Missense_I671V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:120,91:212:99:1815,0,2490:0.431:99 chr6 49425521 rs2229384 C T 3170.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.568;DP=270;Dels=0.00;FS=0.931;HRun=2;HaplotypeScore=3.5764;MQ=51.15;MQ0=0;MQRankSum=1.352;QD=11.74;ReadPosRankSum=2.180;SB=-2290.93;TI=NM_000255;GI=MUT;FC=Synonymous_K212K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:127,143:270:99:3201,0,2627:0.530:99 chr6 51480486 rs2784198 G T 705.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.521;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9979;MQ=53.67;MQ0=0;MQRankSum=1.765;QD=8.94;ReadPosRankSum=0.575;SB=-322.17;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,29:79:99:736,0,1336:0.367:99 chr6 51480853 rs2784199 T C 668.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.658;DP=72;Dels=0.00;FS=0.930;HRun=0;HaplotypeScore=4.6817;MQ=50.90;MQ0=0;MQRankSum=-0.176;QD=9.29;ReadPosRankSum=-0.070;SB=-480.22;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,35:72:99:699,0,723:0.500:99 chr6 51481315 rs1414504 T C 332.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.111;DP=48;Dels=0.00;FS=1.241;HRun=3;HaplotypeScore=17.1811;MQ=48.04;MQ0=0;MQRankSum=-0.956;QD=6.92;ReadPosRankSum=0.601;SB=-107.37;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,15:48:99:362,0,796:0.313:99 chr6 51481325 . AT A 124.54 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.434;DP=46;FS=2.729;HRun=15;HaplotypeScore=125.7788;MQ=48.46;MQ0=0;MQRankSum=1.252;QD=2.71;ReadPosRankSum=-0.296;SB=-68.61;TI=NM_138694;GI=PKHD1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,11:46:99:163,0,407:0.379:99 chr6 51481671 rs2784200 T C 1547.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.479;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9986;MQ=49.39;MQ0=0;MQRankSum=-2.049;QD=10.45;ReadPosRankSum=0.056;SB=-1304.57;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,78:148:99:1577,0,1462:0.527:99 chr6 51483505 rs2784201 A G 1271.69 PASS AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.64;MQ0=0;QD=24.46;SB=-881.72;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,52:52:90.30:1305,90,0:1.000:90 chr6 51586771 rs9349593 G A 3004.10 PASS AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7878;MQ=48.25;MQ0=0;QD=24.83;SB=-2384.82;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,121:121:99:3037,211,0:1.000:99 chr6 51613177 rs765525 C T 2836.83 PASS AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.25;MQ0=0;QD=23.25;SB=-2305.54;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_A3079A,Synonymous_A3079A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,122:122:99:2870,196,0:1.000:99 chr6 51720838 rs9349603 T C 5646.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DP=536;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3635;MQ=51.48;MQ0=0;MQRankSum=-1.699;QD=10.53;ReadPosRankSum=0.064;SB=-4103.14;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_L2588L,Synonymous_L2588L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:267,269:536:99:5647,0,5463:0.502:99 chr6 51732807 rs12210295 C T 3141.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.569;DP=366;Dels=0.00;FS=0.384;HRun=0;HaplotypeScore=5.6765;MQ=51.47;MQ0=0;MQRankSum=2.895;QD=8.58;ReadPosRankSum=0.652;SB=-2274.17;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_G2529G,Synonymous_G2529G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:211,155:366:99:3172,0,4447:0.423:99 chr6 51875250 rs2435322 A C 7573.88 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.133;DP=306;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.8136;MQ=49.30;MQ0=0;MQRankSum=0.664;QD=24.75;ReadPosRankSum=0.093;SB=-5732.86;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Missense_L1870V,Missense_L1870V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,303:306:99:7574,491,0:0.993:99 chr6 51890823 rs9296669 G A 1494.75 PASS AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=54.48;MQ0=0;QD=25.33;SB=-997.87;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Missense_A1262V,Missense_A1262V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,59:59:99:1528,108,0:1.000:99 chr6 51914956 rs9370096 G A 1652.23 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.48;MQ0=0;QD=24.66;SB=-1321.54;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Unknown_760,Unknown_760;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:67:99:1685,117,0:1.000:99 chr6 51924774 rs1896976 A G 6059.23 PASS AC=2;AF=1.00;AN=2;DP=259;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=47.95;MQ0=0;QD=23.39;SB=-5100.22;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_D395D,Synonymous_D395D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,259:259:99:6059,412,0:1.000:99 chr6 57053947 rs11398 T C 2238.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.286;DP=249;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=50.78;MQ0=0;MQRankSum=-0.179;QD=8.99;ReadPosRankSum=0.967;SB=-1664.26;TI=NM_183227,NM_016277;GI=RAB23,RAB23;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:143,106:249:99:2268,0,3207:0.426:99 chr6 74303746 . CT C 49.32 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.235;DP=36;FS=0.000;HRun=13;HaplotypeScore=133.3383;MQ=54.35;MQ0=0;MQRankSum=0.894;QD=1.37;ReadPosRankSum=0.469;SB=-24.00;TI=NM_012434;GI=SLC17A5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,7:36:88.35:88,0,454:0.226:49 chr6 74304607 rs3734517 T C 428.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DP=77;Dels=0.00;FS=0.915;HRun=0;HaplotypeScore=0.8941;MQ=48.22;MQ0=0;MQRankSum=-3.086;QD=5.57;ReadPosRankSum=-0.609;SB=-396.39;TI=NM_012434;GI=SLC17A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,26:77:99:459,0,1104:0.338:99 chr6 74348142 rs3757112 T C 2295.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.445;DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=47.12;MQ0=0;MQRankSum=-0.489;QD=10.34;ReadPosRankSum=3.107;SB=-1620.14;TI=NM_012434;GI=SLC17A5;FC=Synonymous_S202S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:112,109:222:99:2326,0,2420:0.493:99 chr6 81053642 rs926733 G A 11275.55 PASS AC=2;AF=1.00;AN=2;DP=462;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3603;MQ=53.67;MQ0=0;QD=24.41;SB=-8528.33;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,462:462:99:11276,783,0:1.000:99 chr6 81053716 . TTTG T 14307.96 PASS AC=2;AF=1.00;AN=2;DP=318;FS=0.000;HRun=0;HaplotypeScore=1208.3100;MQ=55.63;MQ0=0;QD=44.99;SB=-4906.85;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:45,271:318:99:14308,819,0:0.858:99 chr6 81053814 rs926732 T C 851.98 PASS AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=54.82;MQ0=0;QD=28.40;SB=-566.49;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,30:30:63.21:885,63,0:1.000:63 chr6 81053825 rs926731 G A 825.91 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.57;MQ0=0;QD=25.81;SB=-604.58;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,32:32:60.20:859,60,0:1.000:60 chr6 81053866 rs1811844 C T 1395.16 PASS AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.94;MQ0=0;QD=22.15;SB=-1225.17;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,63:63:96.32:1428,96,0:1.000:96 chr6 81053916 rs4706116 G T 2180.06 PASS AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9940;MQ=45.97;MQ0=0;QD=22.71;SB=-1806.75;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,95:96:99:2213,151,0:1.000:99 chr6 81054065 rs71649498 ATT A,AT 1227.43 R8 AC=1,1;AF=0.50,0.50;AN=2;DP=50;FS=0.000;HaplotypeScore=78.4339;MQ=43.50;MQ0=1;QD=24.55;SB=-619.78;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:4,34,0:49:42.56:1305,160,43,861,0,736:0.895:42 chr6 81054148 rs4706838 T C 102.28 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51.32;MQ0=1;QD=14.61;SB=-117.76;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:9.03:134,9,0:1.000:9 chr6 81054252 rs4706117 C T 73.10 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.055;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.03;MQ0=0;MQRankSum=0.754;QD=4.30;ReadPosRankSum=-0.754;SB=-59.59;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,6:17:99:103,0,237:0.353:73 chr6 81054310 rs4706118 C T 579.83 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.36;MQ0=0;QD=22.30;SB=-483.23;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,26:26:42.14:613,42,0:1.000:42 chr6 81054326 rs4706839 T C 536.00 PASS AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.14;MQ0=0;QD=23.30;SB=-443.86;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,23:23:39.13:569,39,0:1.000:39 chr6 81054515 rs4502885 G A 3440.60 PASS AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7212;MQ=52.32;MQ0=0;QD=26.47;SB=-2373.55;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,130:130:99:3441,241,0:1.000:99 chr6 81054663 rs1042367 C G 10107.28 PASS AC=2;AF=1.00;AN=2;DP=390;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.5302;MQ=54.89;MQ0=0;QD=25.92;SB=-6682.76;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,390:390:99:10107,710,0:1.000:99 chr6 81054762 rs1042368 A G 10284.71 PASS AC=2;AF=1.00;AN=2;DP=378;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3486;MQ=53.42;MQ0=0;QD=27.21;SB=-6320.51;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,378:378:99:10285,731,0:1.000:99 chr6 81054965 rs3805848 T C 9234.01 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.246;DP=337;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5588;MQ=53.41;MQ0=0;MQRankSum=0.389;QD=27.40;ReadPosRankSum=0.957;SB=-5260.67;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,335:337:99:9234,627,0:0.994:99 chr6 81055299 rs7758761 A G 3668.42 PASS AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=46.73;MQ0=0;QD=24.46;SB=-2836.10;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,150:150:99:3668,253,0:1.000:99 chr6 81055331 rs7740932 T C 4495.00 PASS AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8932;MQ=45.89;MQ0=0;QD=23.66;SB=-3596.84;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,190:190:99:4495,310,0:1.000:99 chr6 81055396 rs7759304 G A 5555.94 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.717;DP=226;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=45.79;MQ0=0;MQRankSum=0.962;QD=24.58;ReadPosRankSum=-0.778;SB=-4193.81;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,224:226:99:5556,385,0:0.996:99 chr6 81055413 rs7740958 T C 5741.42 PASS AC=2;AF=1.00;AN=2;DP=238;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.8084;MQ=45.80;MQ0=0;QD=24.12;SB=-4404.12;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,238:238:99:5741,394,0:1.000:99 chr6 81055792 rs15062 G A 9964.01 PASS AC=2;AF=1.00;AN=2;DP=355;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=54.18;MQ0=0;QD=28.07;SB=-5193.35;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,355:355:99:9964,707,0:1.000:99 chr6 81055803 rs10864 C T 9464.51 PASS AC=2;AF=1.00;AN=2;DP=331;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=54.17;MQ0=0;QD=28.59;SB=-4708.25;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,331:331:99:9465,680,0:1.000:99 chr6 88182704 rs9450704 G C 33.24 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=54.43;MQ0=0;MQRankSum=0.922;QD=4.75;ReadPosRankSum=-0.198;SB=-28.61;TI=NM_006416,NM_001168398;GI=SLC35A1,SLC35A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:63.23:63,0,148:0.286:33 chr6 88221546 rs1051131 A G 1353.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.040;DP=116;Dels=0.00;FS=0.702;HRun=0;HaplotypeScore=5.4599;MQ=45.75;MQ0=0;MQRankSum=0.745;QD=11.66;ReadPosRankSum=0.489;SB=-979.32;TI=NM_006416,NM_001168398;GI=SLC35A1,SLC35A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,65:116:99:1383,0,997:0.560:99 chr6 88221763 rs10681831 C CTGAA 4495.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.070;DP=150;FS=4.884;HRun=0;HaplotypeScore=67.0936;MQ=51.30;MQ0=0;MQRankSum=3.822;QD=29.97;ReadPosRankSum=1.354;SB=-1777.04;TI=NM_006416,NM_001168398;GI=SLC35A1,SLC35A1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,70:150:99:4496,0,4810:0.467:99 chr6 88221892 rs1051148 T G 754.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.535;DP=63;Dels=0.00;FS=5.570;HRun=0;HaplotypeScore=1.7882;MQ=54.48;MQ0=0;MQRankSum=2.035;QD=11.97;ReadPosRankSum=1.618;SB=-183.35;TI=NM_006416,NM_001168398;GI=SLC35A1,SLC35A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,27:63:99:784,0,914:0.429:99 chr6 97337537 rs7758762 C T 2504.72 PASS AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=55.56;MQ0=0;QD=28.79;SB=-1209.73;TI=NM_014165;GI=NDUFAF4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,86:87:99:2538,181,0:1.000:99 chr6 97338598 rs1971475 A T 3581.55 PASS AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=53.06;MQ0=0;QD=25.58;SB=-2685.47;TI=NM_014165;GI=NDUFAF4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,140:140:99:3582,250,0:1.000:99 chr6 97338679 rs1854268 A T 1769.86 PASS AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.89;MQ0=0;QD=31.05;SB=-808.45;TI=NM_014165;GI=NDUFAF4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,57:57:99:1803,132,0:1.000:99 chr6 97339078 rs6684 A G 6988.22 PASS AC=2;AF=1.00;AN=2;DP=271;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5755;MQ=54.27;MQ0=0;QD=25.79;SB=-5140.55;TI=NM_014165;GI=NDUFAF4;FC=Synonymous_L144L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,271:271:99:6988,494,0:1.000:99 chr6 97339088 rs11402 C T 6218.55 PASS AC=2;AF=1.00;AN=2;DP=230;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.4525;MQ=55.94;MQ0=0;QD=27.04;SB=-4420.90;TI=NM_014165;GI=NDUFAF4;FC=Synonymous_Q140Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,229:230:99:6219,442,0:1.000:99 chr6 102503317 rs2227283 G A 8746.81 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.533;DP=316;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5757;MQ=52.20;MQ0=0;MQRankSum=0.214;QD=27.68;ReadPosRankSum=0.929;SB=-5703.69;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 1/1:1,314:316:99:8747,594,0:0.997:99 chr6 107475278 . T TA 97.16 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.427;DP=37;FS=0.000;HRun=10;HaplotypeScore=27.0659;MQ=50.15;MQ0=0;MQRankSum=3.711;QD=2.63;ReadPosRankSum=-1.761;SB=-63.56;TI=NM_020381;GI=PDSS2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,8:37:99:136,0,609:0.258:97 chr6 108363472 . CAAA C,CAA 439.84 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=0.260;DP=39;FS=3.851;HaplotypeScore=109.2014;MQ=43.11;MQ0=0;MQRankSum=0.100;QD=11.28;ReadPosRankSum=1.942;SB=-35.37;TI=NM_014028;GI=OSTM1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:9,6,0:39:95.57:517,96,288,235,0,222:0.400:95 chr6 108363618 . CTT C 2170.61 LowGQ;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.392;DP=87;FS=10.473;HRun=19;HaplotypeScore=376.6404;MQ=43.04;MQ0=0;MQRankSum=0.119;QD=24.95;ReadPosRankSum=-0.597;SB=-649.44;TI=NM_014028;GI=OSTM1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,59:87:25.59:2210,0,26:0.855:25 chr6 108363627 . T C 1411.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.215;DP=85;Dels=0.00;FS=12.744;HRun=0;HaplotypeScore=33.4369;MQ=43.17;MQ0=0;MQRankSum=1.512;QD=16.60;ReadPosRankSum=0.577;SB=-626.37;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,59:85:99:1441,0,620:0.694:99 chr6 108363688 rs9386700 T C 390.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.814;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=47.11;MQ0=0;MQRankSum=1.052;QD=12.61;ReadPosRankSum=2.640;SB=-260.27;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,17:31:99:421,0,264:0.548:99 chr6 108363792 . G T 128.81 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.280;DP=38;Dels=0.00;FS=19.684;HRun=5;HaplotypeScore=0.8941;MQ=46.24;MQ0=0;MQRankSum=-4.104;QD=3.39;ReadPosRankSum=-3.577;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,7:38:99:159,0,700:0.184:99 chr6 108363794 . A T 128.81 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.054;DP=38;Dels=0.00;FS=19.684;HRun=6;HaplotypeScore=0.8941;MQ=46.24;MQ0=0;MQRankSum=-3.954;QD=3.39;ReadPosRankSum=-3.314;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,7:38:99:159,0,701:0.184:99 chr6 108363810 . G A 83.33 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.484;DP=45;Dels=0.00;FS=15.767;HRun=1;HaplotypeScore=1.9995;MQ=42.80;MQ0=0;MQRankSum=-3.923;QD=1.85;ReadPosRankSum=-1.119;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,6:45:99:113,0,902:0.133:83 chr6 108363811 . T G 83.33 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.050;DP=45;Dels=0.00;FS=15.767;HRun=1;HaplotypeScore=1.9995;MQ=42.80;MQ0=0;MQRankSum=-3.790;QD=1.85;ReadPosRankSum=-1.119;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,6:45:99:113,0,900:0.133:83 chr6 108363814 . T C 81.45 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.718;DP=45;Dels=0.00;FS=15.767;HRun=0;HaplotypeScore=1.9995;MQ=42.80;MQ0=0;MQRankSum=-3.756;QD=1.81;ReadPosRankSum=-1.119;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,6:45:99:111,0,893:0.133:81 chr6 108363816 . C G 53.23 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.126;DP=61;Dels=0.00;FS=16.206;HRun=0;HaplotypeScore=1.9995;MQ=43.09;MQ0=0;MQRankSum=-3.911;QD=0.87;ReadPosRankSum=0.061;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,6:61:83.22:83,0,1295:0.098:53 chr6 108363817 . A G 53.23 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.877;DP=61;Dels=0.00;FS=16.206;HRun=0;HaplotypeScore=1.9995;MQ=43.09;MQ0=0;MQRankSum=-3.863;QD=0.87;ReadPosRankSum=-0.206;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,6:61:83.22:83,0,1292:0.098:53 chr6 108363820 . A C 40.46 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.323;DP=66;Dels=0.00;FS=16.130;HRun=0;HaplotypeScore=1.9995;MQ=43.06;MQ0=0;MQRankSum=-3.937;QD=0.61;ReadPosRankSum=-0.413;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,6:66:70.45:70,0,1389:0.091:40 chr6 108363824 . T C 16.41 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.758;DP=81;Dels=0.00;FS=19.271;HRun=0;HaplotypeScore=1.9995;MQ=42.97;MQ0=0;MQRankSum=-4.048;QD=0.20;ReadPosRankSum=-1.794;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,6:81:46.30:46,0,1742:0.074:16 chr6 108364106 rs7662 A G 1488.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.116;DP=162;Dels=0.00;FS=5.096;HRun=0;HaplotypeScore=4.4704;MQ=51.81;MQ0=0;MQRankSum=0.503;QD=9.19;ReadPosRankSum=0.163;SB=-826.11;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,67:162:99:1519,0,2633:0.414:99 chr6 108364289 rs79829999 C T 57.93 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=3.199;DP=295;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4759;MQ=42.12;MQ0=28;MQRankSum=-2.908;QD=0.20;ReadPosRankSum=3.659;SB=-40.21;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:267,28:295:87.93:88,0,5746:0.095:57 chr6 108364582 rs12567 T C 2756.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.567;DP=297;Dels=0.00;FS=0.890;HRun=0;HaplotypeScore=7.2560;MQ=47.61;MQ0=0;MQRankSum=0.475;QD=9.28;ReadPosRankSum=-2.321;SB=-1927.00;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:168,129:297:99:2787,0,3713:0.434:99 chr6 108364951 rs1064346 T C 3148.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.070;DP=246;Dels=0.00;FS=0.492;HRun=0;HaplotypeScore=7.5754;MQ=53.42;MQ0=0;MQRankSum=4.022;QD=12.80;ReadPosRankSum=-1.116;SB=-1502.73;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:117,129:246:99:3179,0,2665:0.524:99 chr6 108365658 rs9320250 T C 2687.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.318;DP=294;Dels=0.00;FS=0.899;HRun=0;HaplotypeScore=9.1701;MQ=51.24;MQ0=0;MQRankSum=-0.226;QD=9.14;ReadPosRankSum=-1.833;SB=-2022.43;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:166,128:294:99:2717,0,3690:0.435:99 chr6 116596247 rs6568924 C T 1024.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.369;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54.05;MQ0=0;MQRankSum=1.668;QD=9.32;ReadPosRankSum=1.088;SB=-589.20;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,47:110:99:1055,0,1489:0.427:99 chr6 116596479 rs6568925 T A 1525.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.116;DP=155;Dels=0.00;FS=2.293;HRun=2;HaplotypeScore=4.4704;MQ=54.93;MQ0=0;MQRankSum=1.060;QD=9.84;ReadPosRankSum=-0.208;SB=-504.16;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,60:155:99:1556,0,2415:0.387:99 chr6 116596543 rs6568926 A T 3392.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.579;DP=361;Dels=0.00;FS=0.384;HRun=2;HaplotypeScore=9.9325;MQ=52.25;MQ0=0;MQRankSum=-0.013;QD=9.40;ReadPosRankSum=0.509;SB=-2552.75;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:198,163:361:99:3392,0,4263:0.452:99 chr6 116596796 . T A 15.93 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.8009;MQ=38.23;MQ0=0;MQRankSum=0.198;QD=1.99;ReadPosRankSum=0.198;SB=-0.01;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:8:45.81:46,0,155:0.286:15 chr6 116596798 . C A 15.93 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.8009;MQ=38.23;MQ0=0;MQRankSum=-0.572;QD=1.99;ReadPosRankSum=0.000;SB=-0.01;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:45.81:46,0,160:0.250:15 chr6 116596799 . T A 13.05 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DP=8;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=10.8275;MQ=38.23;MQ0=0;MQRankSum=-0.572;QD=1.63;ReadPosRankSum=0.000;SB=-0.01;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:42.83:43,0,175:0.250:13 chr6 116596800 . A C 49.25 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8275;MQ=38.23;MQ0=0;MQRankSum=-0.322;QD=6.16;ReadPosRankSum=-1.920;SB=-0.01;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,3:8:79.24:79,0,126:0.375:49 chr6 116596805 . T A 113.13 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.517;DP=8;Dels=0.00;FS=5.441;HRun=5;HaplotypeScore=10.8275;MQ=38.23;MQ0=0;MQRankSum=-0.684;QD=14.14;ReadPosRankSum=-0.684;SB=-0.01;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,5:8:78.91:143,0,79:0.625:78 chr6 116596807 . C A 116.11 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.956;DP=8;Dels=0.00;FS=5.441;HRun=6;HaplotypeScore=7.9367;MQ=38.23;MQ0=0;MQRankSum=-0.684;QD=14.51;ReadPosRankSum=-0.684;SB=0.01;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,5:8:60.23:146,0,60:0.625:60 chr6 116596961 . CA C 190.77 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.380;DP=67;FS=1.032;HRun=18;HaplotypeScore=182.2984;MQ=44.89;MQ0=0;MQRankSum=0.897;QD=2.85;ReadPosRankSum=-0.639;SB=-108.31;TI=NM_003309;GI=TSPYL1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,13:67:99:230,0,392:0.260:99 chr6 116597724 rs10484838 C G 1672.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.508;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=54.44;MQ0=0;MQRankSum=1.769;QD=9.90;ReadPosRankSum=-0.065;SB=-955.92;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,71:169:99:1702,0,2309:0.420:99 chr6 116598475 rs1045182 T C 711.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.437;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=53.16;MQ0=0;MQRankSum=0.860;QD=10.62;ReadPosRankSum=1.337;SB=-436.03;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,32:67:99:741,0,905:0.478:99 chr6 116598793 rs10456904 G A 1006.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.696;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5759;MQ=53.23;MQ0=0;MQRankSum=0.529;QD=10.49;ReadPosRankSum=1.263;SB=-591.69;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,45:96:99:1037,0,1156:0.469:99 chr6 116598853 rs1128261 A G 625.87 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.641;DP=42;Dels=0.00;FS=3.097;HRun=1;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;MQRankSum=-0.307;QD=14.90;ReadPosRankSum=-0.999;SB=-239.19;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,25:42:99:656,0,484:0.595:99 chr6 116599665 rs9400897 T C 404.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.986;DP=26;Dels=0.00;FS=3.442;HRun=3;HaplotypeScore=0.0000;MQ=57.07;MQ0=0;MQRankSum=0.882;QD=15.56;ReadPosRankSum=-0.623;SB=-236.84;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,15:26:99:435,0,218:0.577:99 chr6 116600465 rs78371471 T TCAC 2345.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DP=81;FS=5.812;HRun=0;HaplotypeScore=44.5197;MQ=52.80;MQ0=0;MQRankSum=3.345;QD=28.96;ReadPosRankSum=1.086;SB=-1061.44;TI=NM_003309;GI=TSPYL1;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,43:81:99:2385,0,1659:0.531:99 chr6 116600774 rs3749895 C G 349.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.519;DP=70;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=45.77;MQ0=0;MQRankSum=-1.109;QD=5.00;ReadPosRankSum=2.866;SB=-262.02;TI=NM_003309;GI=TSPYL1;FC=Missense_A74P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,19:70:99:380,0,1143:0.271:99 chr6 116600810 rs3828743 G A 182.92 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.883;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6274;MQ=54.32;MQ0=0;MQRankSum=-2.031;QD=10.16;ReadPosRankSum=-1.854;SB=-135.49;TI=NM_003309;GI=TSPYL1;FC=Missense_P62S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,9:18:99:213,0,216:0.500:99 chr6 129381026 rs4404787 C A 5063.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.859;DP=524;Dels=0.00;FS=8.140;HRun=0;HaplotypeScore=4.6799;MQ=51.26;MQ0=0;MQRankSum=3.164;QD=9.66;ReadPosRankSum=-0.389;SB=-2847.16;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_T127T,Synonymous_T127T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:298,226:524:99:5064,0,6408:0.431:99 chr6 129807714 rs2229850 G A 3438.32 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.709;DP=150;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=48.18;MQ0=0;MQRankSum=-0.300;QD=22.92;ReadPosRankSum=-1.109;SB=-2865.86;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_P2611P,Synonymous_P2615P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,149:150:99:3438,235,0:0.993:99 chr6 129837610 rs1049476 T C 2988.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.921;DP=235;Dels=0.00;FS=4.474;HRun=1;HaplotypeScore=2.6823;MQ=50.84;MQ0=0;MQRankSum=0.708;QD=12.72;ReadPosRankSum=0.352;SB=-1652.75;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:114,121:235:99:3019,0,2585:0.515:99 chr6 129837680 . AAAT A 12775.19 PASS AC=2;AF=1.00;AN=2;DP=250;FS=0.000;HRun=0;HaplotypeScore=282.9658;MQ=50.36;MQ0=0;QD=51.10;SB=-5994.17;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:29,219:250:99:12775,659,0:0.883:99 chr6 132172368 rs1044498 A C 1113.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.079;DP=151;Dels=0.00;FS=0.619;HRun=1;HaplotypeScore=0.8941;MQ=45.10;MQ0=0;MQRankSum=0.106;QD=7.37;ReadPosRankSum=1.660;SB=-833.80;TI=NM_006208;GI=ENPP1;FC=Missense_K173Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,57:151:99:1143,0,2058:0.377:99 chr6 132212888 . CT C 65.05 R8;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.166;DP=38;FS=4.384;HRun=19;HaplotypeScore=151.1170;MQ=41.84;MQ0=0;MQRankSum=-0.276;QD=1.71;ReadPosRankSum=1.013;SB=-0.00;TI=NM_006208;GI=ENPP1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,8:38:99:104,0,202:0.258:65 chr6 132215089 rs74370421 C T 64.32 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.774;DP=22;Dels=0.00;FS=35.884;HRun=30;HaplotypeScore=9.5927;MQ=32.58;MQ0=0;MQRankSum=-2.248;QD=2.92;ReadPosRankSum=-0.922;SB=-2.75;TI=NM_006208;GI=ENPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,6:22:94.31:94,0,481:0.273:64 chr6 135818818 . C T 1503.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.192;DP=154;Dels=0.00;FS=0.599;HRun=0;HaplotypeScore=1.8665;MQ=45.04;MQ0=0;MQRankSum=0.586;QD=9.76;ReadPosRankSum=-0.221;SB=-1263.21;TI=NM_001134831,NM_001134830,NM_017651,NM_001134832;GI=AHI1,AHI1,AHI1,AHI1;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,79:154:99:1533,0,1496:0.513:99 chr6 135818897 rs13197384 C A 458.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.362;DP=37;Dels=0.00;FS=1.419;HRun=0;HaplotypeScore=4.3882;MQ=49.86;MQ0=0;MQRankSum=2.108;QD=12.38;ReadPosRankSum=0.922;SB=-318.38;TI=NM_001134831,NM_001134830,NM_017651,NM_001134832;GI=AHI1,AHI1,AHI1,AHI1;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,23:37:99:488,0,295:0.639:99 chr6 137143709 rs1321471 T C 3350.83 PASS AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8640;MQ=48.11;MQ0=0;QD=23.76;SB=-2582.26;TI=NM_000288;GI=PEX7;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,141:141:99:3351,232,0:1.000:99 chr6 137234919 . T TGTA 5827.48 PASS AC=2;AF=1.00;AN=2;DP=101;FS=0.000;HRun=0;HaplotypeScore=203.4726;MQ=53.23;MQ0=0;QD=57.70;SB=-2548.46;TI=NM_000288;GI=PEX7;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:8,93:101:99:5827,289,0:0.921:99 chr6 137234970 rs1050803 T G 4478.31 PASS AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8325;MQ=49.11;MQ0=0;QD=27.31;SB=-2809.05;TI=NM_000288;GI=PEX7;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,164:164:99:4478,322,0:1.000:99 chr6 137518966 . TA T 523.56 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DP=115;FS=3.422;HRun=14;HaplotypeScore=232.0033;MQ=50.41;MQ0=0;MQRankSum=0.900;QD=4.55;ReadPosRankSum=1.188;SB=-248.06;TI=NM_000416;GI=IFNGR1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,31:115:99:563,0,1274:0.320:99 chr6 144509845 rs11453124 T TA 681.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.569;DP=21;FS=3.468;HRun=4;HaplotypeScore=110.7843;MQ=41.95;MQ0=0;MQRankSum=0.083;QD=32.46;ReadPosRankSum=-1.734;SB=-274.08;TI=NM_003764;GI=STX11;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,18:21:40.94:724,41,0:0.857:40 chr6 144509855 . C T 100.79 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.696;DP=22;Dels=0.00;FS=26.107;HRun=5;HaplotypeScore=15.3664;MQ=41.73;MQ0=0;MQRankSum=-0.717;QD=4.58;ReadPosRankSum=0.102;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,8:22:99:131,0,347:0.364:99 chr6 144509861 . C T 36.89 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.809;DP=22;Dels=0.00;FS=13.676;HRun=5;HaplotypeScore=12.4993;MQ=41.73;MQ0=0;MQRankSum=-0.468;QD=1.68;ReadPosRankSum=-0.128;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,4:22:66.88:67,0,402:0.182:36 chr6 144510037 . A T 189.33 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=0.0000;MQ=27.61;MQ0=0;QD=27.05;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:21.03:222,21,0:1.000:21 chr6 144510039 . G T 189.33 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=27.61;MQ0=0;QD=27.05;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:21.03:222,21,0:1.000:21 chr6 144510045 . A T 189.33 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=27.61;MQ0=0;QD=27.05;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:21.03:222,21,0:1.000:21 chr6 144510046 . GTAA G 297.57 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=7;FS=0.000;HRun=0;HaplotypeScore=196.1255;MQ=27.61;MQ0=0;QD=42.51;SB=-0.00;TI=NM_003764;GI=STX11;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:21.07:340,21,0:1.000:21 chr6 144510053 . C T 189.33 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=27.61;MQ0=0;QD=27.05;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:21.03:222,21,0:1.000:21 chr6 144510056 . T A 182.66 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=27.61;MQ0=0;QD=26.09;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:21.03:216,21,0:1.000:21 chr6 144510059 . T C 152.20 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=27.61;MQ0=0;QD=21.74;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:18.02:185,18,0:1.000:18 chr6 144510064 . C T 155.96 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=27.37;MQ0=0;QD=25.99;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,6:6:18.02:189,18,0:1.000:18 chr6 144510070 . A G 99.36 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=24.84;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,4:4:12.03:132,12,0:1.000:12 chr6 144510071 . G C 89.73 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=4;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=22.43;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,4:4:12.02:122,12,0:1.000:12 chr6 144510421 rs4896705 A C 804.02 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=30.92;SB=-237.85;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,26:26:60.20:837,60,0:1.000:60 chr6 144510926 rs3734227 C T 2578.76 PASS AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.00;MQ0=0;QD=28.34;SB=-1371.53;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,91:91:99:2612,187,0:1.000:99 chr6 144511720 . CT C 448.70 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.375;DP=153;FS=2.189;HRun=12;HaplotypeScore=216.7048;MQ=49.85;MQ0=0;MQRankSum=0.789;QD=2.93;ReadPosRankSum=1.295;SB=-221.94;TI=NM_003764;GI=STX11;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:100,29:153:99:488,0,2096:0.225:99 chr6 144512671 . T TA 1958.38 R8 AC=2;AF=1.00;AN=2;BaseQRankSum=0.430;DP=103;FS=0.000;HRun=11;HaplotypeScore=122.3990;MQ=58.29;MQ0=0;MQRankSum=1.304;QD=19.01;ReadPosRankSum=-0.580;SB=-774.86;TI=NM_003764;GI=STX11;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:13,77:103:95.06:2000,95,0:0.856:95 chr6 146007332 rs35230590 C T 3921.71 PASS AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7601;MQ=44.20;MQ0=0;QD=23.34;SB=-3261.07;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Synonymous_G134G,Synonymous_G134G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,166:168:99:3922,268,0:1.000:99 chr6 146056476 rs2235482 G C 569.51 PASS AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.61;MQ0=0;QD=22.78;SB=-396.19;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Synonymous_A53A,Synonymous_A53A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,25:25:42.14:603,42,0:1.000:42 chr6 146056681 . C T 579.46 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=38.88;MQ0=0;QD=22.29;SB=-447.88;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,26:26:42.14:612,42,0:1.000:42 chr6 146056801 rs2072911 G A 2164.32 PASS AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=49.92;MQ0=0;QD=25.17;SB=-1441.01;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,86:86:99:2197,156,0:1.000:99 chr6 146056848 rs2235481 T C 4827.26 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.714;DP=191;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.0250;MQ=49.02;MQ0=0;MQRankSum=1.714;QD=25.27;ReadPosRankSum=-1.678;SB=-3079.52;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,190:191:99:4827,340,0:0.995:99 chr6 158589397 . C T 945.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.493;DP=117;Dels=0.00;FS=3.422;HRun=0;HaplotypeScore=1.8583;MQ=43.03;MQ0=0;MQRankSum=0.169;QD=8.08;ReadPosRankSum=-0.352;SB=-641.75;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,48:117:99:976,0,1486:0.410:99 chr6 158613374 rs3841147 TA T 375.85 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.804;DP=63;FS=2.095;HRun=13;HaplotypeScore=112.0666;MQ=57.49;MQ0=0;MQRankSum=-0.103;QD=5.97;ReadPosRankSum=-0.406;SB=-189.72;TI=NM_207118;GI=GTF2H5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,21:63:99:415,0,657:0.396:99 chr6 158613937 . CA C 148.69 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.279;DP=45;FS=0.000;HRun=26;HaplotypeScore=163.0336;MQ=34.88;MQ0=0;MQRankSum=1.050;QD=3.30;ReadPosRankSum=0.897;SB=-44.40;TI=NM_207118;GI=GTF2H5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,10:45:83.50:188,0,83:0.263:83 chr6 158614843 . A G 67.63 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.528;DP=19;Dels=0.00;FS=9.874;HRun=0;HaplotypeScore=2.8936;MQ=39.78;MQ0=0;MQRankSum=-3.287;QD=3.56;ReadPosRankSum=-3.287;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,5:19:97.62:98,0,306:0.263:67 chr6 158614846 . C T 98.05 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.713;DP=19;Dels=0.00;FS=9.745;HRun=0;HaplotypeScore=3.7876;MQ=39.78;MQ0=0;MQRankSum=-3.287;QD=5.16;ReadPosRankSum=-3.287;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,5:19:99:128,0,310:0.263:98 chr6 158614854 . T A 98.05 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.493;DP=19;Dels=0.00;FS=9.944;HRun=1;HaplotypeScore=2.8936;MQ=39.78;MQ0=0;MQRankSum=-3.253;QD=5.16;ReadPosRankSum=-3.253;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,5:19:99:128,0,303:0.278:98 chr6 158614856 . T A 98.05 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.435;DP=19;Dels=0.00;FS=9.745;HRun=1;HaplotypeScore=2.8936;MQ=39.78;MQ0=0;MQRankSum=-3.287;QD=5.16;ReadPosRankSum=-2.824;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,5:19:99:128,0,310:0.263:98 chr6 158614857 . T A 98.05 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.417;DP=19;Dels=0.00;FS=9.745;HRun=5;HaplotypeScore=2.8936;MQ=39.78;MQ0=0;MQRankSum=-3.287;QD=5.16;ReadPosRankSum=-2.824;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,5:19:99:128,0,310:0.263:98 chr6 158614863 . T A 98.05 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.591;DP=18;Dels=0.00;FS=9.944;HRun=5;HaplotypeScore=0.0000;MQ=38.34;MQ0=0;MQRankSum=-3.253;QD=5.45;ReadPosRankSum=-3.253;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,5:18:99:128,0,303:0.278:98 chr6 158614865 . C A 98.05 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.183;DP=18;Dels=0.00;FS=9.944;HRun=6;HaplotypeScore=0.0000;MQ=38.34;MQ0=0;MQRankSum=-3.253;QD=5.45;ReadPosRankSum=-3.253;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,5:18:99:128,0,305:0.278:98 chr6 158615020 . CAA C 104.24 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.437;DP=27;FS=1.598;HRun=21;HaplotypeScore=185.2251;MQ=35.57;MQ0=0;MQRankSum=0.591;QD=3.86;ReadPosRankSum=0.694;SB=-71.28;TI=NM_207118;GI=GTF2H5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,6:27:99:143,0,243:0.353:99 chr6 158615926 rs1019682 A T 1140.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.746;DP=112;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=2.6823;MQ=55.97;MQ0=0;MQRankSum=0.510;QD=10.18;ReadPosRankSum=-0.865;SB=-865.06;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,54:112:99:1170,0,1381:0.482:99 chr6 158616173 . CT C 424.11 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.980;DP=77;FS=1.894;HRun=15;HaplotypeScore=179.7410;MQ=51.94;MQ0=0;MQRankSum=0.758;QD=5.51;ReadPosRankSum=-1.552;SB=-192.51;TI=NM_207118;GI=GTF2H5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,26:77:99:463,0,680:0.394:99 chr6 158617572 rs628039 G A 1241.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.686;DP=100;Dels=0.00;FS=0.780;HRun=1;HaplotypeScore=1.7882;MQ=55.51;MQ0=0;MQRankSum=-0.818;QD=12.41;ReadPosRankSum=1.988;SB=-763.39;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,55:100:99:1271,0,1044:0.550:99 chr6 158619409 rs599345 G A 3433.73 PASS AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.5764;MQ=50.04;MQ0=0;QD=25.06;SB=-2421.44;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,136:137:99:3434,241,0:1.000:99 chr6 158619713 rs615107 C G 180.15 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=2.556;DP=15;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=0.9998;MQ=54.82;MQ0=0;MQRankSum=-1.927;QD=12.01;ReadPosRankSum=0.772;SB=-80.02;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,8:15:99:210,0,236:0.533:99 chr6 161127501 rs73015965 A G 1730.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.575;DP=177;Dels=0.00;FS=1.197;HRun=0;HaplotypeScore=0.8941;MQ=46.48;MQ0=0;MQRankSum=-1.837;QD=9.78;ReadPosRankSum=0.719;SB=-1165.71;TI=NM_001168338,NM_000301;GI=PLG,PLG;FC=Missense_K38E,Missense_K38E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,82:177:99:1760,0,2175:0.463:99 chr6 161132146 rs4757 C T 5396.25 PASS AC=2;AF=1.00;AN=2;DP=234;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=42.50;MQ0=0;QD=23.06;SB=-3863.47;TI=NM_001168338,NM_000301;GI=PLG,PLG;FC=Synonymous_N110N,Synonymous_N110N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,234:234:99:5396,373,0:1.000:99 chr6 161132417 rs4252082 T G 396.14 LowDP AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.67;MQ0=0;QD=24.76;SB=-321.02;TI=NM_001168338,NM_000301;GI=PLG,PLG;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,16:16:30.10:429,30,0:1.000:30 chr6 161132725 rs4252086 T C 1441.82 PASS AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.67;MQ0=0;QD=34.33;SB=-799.36;TI=NM_001168338,NM_000301;GI=PLG,PLG;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,42:42:99:1475,108,0:1.000:99 chr6 161132804 rs1853018 T C 1983.73 PASS AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53.61;MQ0=0;QD=27.55;SB=-1214.03;TI=NM_001168338,NM_000301;GI=PLG,PLG;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,72:72:99:2017,144,0:1.000:99 chr6 161132830 rs1830519 G A 4345.80 PASS AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51.99;MQ0=0;QD=29.97;SB=-1819.29;TI=NM_001168338,NM_000301;GI=PLG,PLG;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,145:145:99:4346,316,0:1.000:99 chr6 161139857 rs13231 A G 2767.80 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.903;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=44.06;MQ0=0;MQRankSum=-1.051;QD=23.66;ReadPosRankSum=-0.074;SB=-2143.64;TI=NM_000301;GI=PLG;FC=Synonymous_Q361Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,116:117:99:2801,158,0:0.991:99 chr6 161152240 rs4252125 G A 4704.47 PASS AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48.19;MQ0=0;QD=23.64;SB=-3879.76;TI=NM_000301;GI=PLG;FC=Missense_D472N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,199:199:99:4704,322,0:1.000:99 chr6 161174658 rs783167;rs80294183 G A 894.94 PASS AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=32.59;MQ0=39;QD=12.97;SB=-428.08;TI=NM_000301;GI=PLG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:25,44:69:69.22:928,69,0:0.638:69 chr6 161175004 rs4252181 C T 3634.23 PASS AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.68;MQ0=6;QD=23.45;SB=-2879.82;TI=NM_000301;GI=PLG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,153:155:99:3634,253,0:0.987:99 chr7 193043 . C G 12.14 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.917;DP=14;Dels=0.00;FS=3.256;HRun=0;HaplotypeScore=2.9799;MQ=35.97;MQ0=0;MQRankSum=-2.282;QD=0.87;ReadPosRankSum=-0.091;SB=-0.01;TI=NM_020223;GI=FAM20C;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,2:14:41.86:42,0,245:0.143:12 chr7 299863 rs62644536 C T 10.43 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=10.43;SB=-0.01;TI=NM_020223;GI=FAM20C;FC=Missense_R558W;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:40,3,0:1.000:3 chr7 299976 rs36173075 G A 180.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.236;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8104;MQ=45.20;MQ0=0;MQRankSum=-0.157;QD=6.22;ReadPosRankSum=-0.921;SB=-161.55;TI=NM_020223;GI=FAM20C;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,11:29:99:210,0,417:0.379:99 chr7 299987 rs36138803 C G 919.50 PASS AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=46.18;MQ0=0;QD=24.20;SB=-676.82;TI=NM_020223;GI=FAM20C;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,38:38:66.22:953,66,0:1.000:66 chr7 22980929 rs35708583 A AAC 1296.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-3.002;DP=76;FS=0.890;HRun=0;HaplotypeScore=22.9135;MQ=55.12;MQ0=0;MQRankSum=1.833;QD=17.06;ReadPosRankSum=-2.173;SB=-619.33;TI=NM_032581;GI=FAM126A;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,29:76:99:1336,0,2166:0.387:99 chr7 22981528 rs3815348 T C 820.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.674;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9993;MQ=55.25;MQ0=0;MQRankSum=0.745;QD=14.39;ReadPosRankSum=-2.043;SB=-402.06;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,31:57:99:850,0,602:0.544:99 chr7 22983702 rs4607514 A T 1018.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.786;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=40.44;MQ0=0;MQRankSum=-0.016;QD=11.08;ReadPosRankSum=0.094;SB=-836.92;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,51:92:99:1049,0,823:0.554:99 chr7 22983854 rs4599713 T C 494.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.635;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.25;MQ0=0;MQRankSum=0.764;QD=8.67;ReadPosRankSum=-0.667;SB=-387.98;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,25:57:99:524,0,626:0.439:99 chr7 22983890 rs1583511 T C 1095.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.044;DP=111;Dels=0.00;FS=0.705;HRun=0;HaplotypeScore=7.7236;MQ=45.84;MQ0=0;MQRankSum=0.121;QD=9.87;ReadPosRankSum=-1.601;SB=-913.26;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,55:111:99:1126,0,1176:0.495:99 chr7 22984772 rs10085448 A C 964.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.345;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8808;MQ=49.50;MQ0=0;MQRankSum=1.440;QD=11.22;ReadPosRankSum=1.050;SB=-730.89;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,47:86:99:995,0,814:0.547:99 chr7 22984773 rs60273851 G A 992.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.145;DP=92;Dels=0.00;FS=0.784;HRun=1;HaplotypeScore=2.7748;MQ=48.78;MQ0=0;MQRankSum=2.247;QD=10.78;ReadPosRankSum=2.333;SB=-751.47;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,48:92:99:1022,0,916:0.522:99 chr7 22984824 rs2286494 T C 2689.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.440;DP=265;Dels=0.00;FS=3.393;HRun=1;HaplotypeScore=4.6817;MQ=46.39;MQ0=0;MQRankSum=1.163;QD=10.15;ReadPosRankSum=1.592;SB=-2091.52;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:134,130:265:99:2720,0,2874:0.492:99 chr7 23015831 rs3735231 T C 3738.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.167;DP=331;Dels=0.00;FS=0.399;HRun=0;HaplotypeScore=6.5650;MQ=50.82;MQ0=0;MQRankSum=-1.321;QD=11.29;ReadPosRankSum=0.293;SB=-2649.66;TI=NM_032581;GI=FAM126A;FC=Synonymous_S208S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:160,171:331:99:3739,0,3697:0.517:99 chr7 50595900 rs6263 T C 1984.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.097;DP=205;Dels=0.00;FS=1.696;HRun=0;HaplotypeScore=2.8661;MQ=47.64;MQ0=0;MQRankSum=-0.103;QD=9.68;ReadPosRankSum=-2.467;SB=-1534.17;TI=NM_000790,NM_001082971;GI=DDC,DDC;FC=Missense_M217V,Missense_M217V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:109,96:205:99:2015,0,2299:0.468:99 chr7 50611735 rs6264 T C 2968.62 PASS AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=46.55;MQ0=0;QD=24.14;SB=-2097.42;TI=NM_000790,NM_001082971;GI=DDC,DDC;FC=Missense_M17V,Missense_M17V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,123:123:99:3002,208,0:1.000:99 chr7 50628739 rs3837091 CCTCT C 2302.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.369;DP=80;FS=0.845;HRun=0;HaplotypeScore=42.3323;MQ=48.16;MQ0=0;MQRankSum=1.725;QD=28.78;ReadPosRankSum=0.405;SB=-1135.84;TI=NM_000790,NM_001082971;GI=DDC,DDC;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,39:80:99:2341,0,2227:0.488:99 chr7 65425894 rs9530 A G 4791.96 PASS AC=2;AF=1.00;AN=2;DP=198;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=47.38;MQ0=0;QD=24.20;SB=-3529.37;TI=NM_000181;GI=GUSB;FC=Missense_L649P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,198:198:99:4792,331,0:1.000:99 chr7 65429359 rs1061361;rs41406646 G A 8726.85 PASS AC=2;AF=1.00;AN=2;DP=358;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.97;MQ0=4;QD=24.38;SB=-6648.21;TI=NM_000181;GI=GUSB;FC=Synonymous_Y580Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,356:358:99:8727,605,0:0.994:99 chr7 65558164 rs465359 C T 764.26 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.72;MQ0=0;QD=23.88;SB=-579.25;TI=NM_000048,NM_001024946,NM_001024944,NM_001024943;GI=ASL,ASL,ASL,ASL;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,32:32:57.19:797,57,0:1.000:57 chr7 65558167 rs462853 G C 1137.15 PASS AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.35;MQ0=0;QD=25.27;SB=-820.26;TI=NM_000048,NM_001024946,NM_001024944,NM_001024943;GI=ASL,ASL,ASL,ASL;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,45:45:84.27:1170,84,0:1.000:84 chr7 65558186 rs160644 C T 1701.03 PASS AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=44.11;MQ0=0;QD=25.77;SB=-1124.14;TI=NM_000048,NM_001024946,NM_001024944,NM_001024943;GI=ASL,ASL,ASL,ASL;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,66:66:99:1734,123,0:1.000:99 chr7 65558222 rs160643 G A 2561.21 PASS AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.73;MQ0=0;QD=24.39;SB=-1944.32;TI=NM_000048,NM_001024946,NM_001024944,NM_001024943;GI=ASL,ASL,ASL,ASL;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,105:105:99:2594,181,0:1.000:99 chr7 75544455 rs3823884 A C 729.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.744;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.16;MQ0=0;MQRankSum=-1.540;QD=9.99;ReadPosRankSum=-1.209;SB=-559.43;TI=NM_000941;GI=POR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,38:73:99:759,0,747:0.521:99 chr7 75614953 rs2228104 T C 960.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.278;DP=94;Dels=0.00;FS=0.776;HRun=1;HaplotypeScore=4.8655;MQ=42.66;MQ0=0;MQRankSum=-0.288;QD=10.22;ReadPosRankSum=0.127;SB=-689.06;TI=NM_000941;GI=POR;FC=Synonymous_A485A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,47:94:99:991,0,914:0.505:99 chr7 75615287 rs1057870 G A 689.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.963;DP=68;Dels=0.00;FS=0.923;HRun=0;HaplotypeScore=4.6269;MQ=41.98;MQ0=0;MQRankSum=-1.846;QD=10.15;ReadPosRankSum=-0.301;SB=-526.98;TI=NM_000941;GI=POR;FC=Synonymous_S572S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,34:68:99:720,0,686:0.500:99 chr7 87079406 rs2109505 T A 4876.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.891;DP=383;Dels=0.00;FS=1.212;HRun=1;HaplotypeScore=22.2760;MQ=51.70;MQ0=0;MQRankSum=0.568;QD=12.73;ReadPosRankSum=-0.153;SB=-3587.87;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 0/1:166,216:383:99:4876,0,3397:0.565:99 chr7 87092185 rs2302387 G A 4324.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.293;DP=311;Dels=0.00;FS=6.209;HRun=1;HaplotypeScore=9.9620;MQ=50.36;MQ0=0;MQRankSum=-0.350;QD=13.90;ReadPosRankSum=-0.525;SB=-2532.34;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 0/1:137,174:311:99:4324,0,3311:0.559:99 chr7 92131289 rs10278857 G T 8930.31 PASS AC=2;AF=1.00;AN=2;DP=315;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8600;MQ=52.27;MQ0=0;QD=28.35;SB=-4845.08;TI=NM_000466;GI=PEX1;FC=Synonymous_G777G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,314:315:99:8930,638,0:1.000:99 chr7 94043239 rs42524 C G 1653.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.503;DP=196;Dels=0.00;FS=0.535;HRun=0;HaplotypeScore=3.7602;MQ=42.53;MQ0=0;MQRankSum=-2.726;QD=8.43;ReadPosRankSum=2.886;SB=-1378.24;TI=NM_000089;GI=COL1A2;FC=Missense_P549A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:106,88:196:99:1683,0,2132:0.454:99 chr7 94056349 rs1800248 C T 962.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.454;DP=84;Dels=0.00;FS=0.849;HRun=1;HaplotypeScore=1.7882;MQ=47.60;MQ0=0;MQRankSum=0.881;QD=11.46;ReadPosRankSum=2.330;SB=-505.06;TI=NM_000089;GI=COL1A2;FC=Synonymous_G1045G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,42:84:99:993,0,910:0.500:99 chr7 103112862 rs7811262 C T 1101.91 PASS AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.62;MQ0=0;QD=32.41;SB=-550.43;TI=NM_005045,NM_173054;GI=RELN,RELN;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,34:34:87.28:1135,87,0:1.000:87 chr7 107559722 rs8721 A T 6730.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.168;DP=550;Dels=0.00;FS=6.546;HRun=7;HaplotypeScore=31.5162;MQ=54.07;MQ0=0;MQRankSum=1.719;QD=12.24;ReadPosRankSum=-0.565;SB=-4048.89;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:274,274:548:99:6730,0,6739:0.500:99 chr7 107559911 rs4564 G A 6772.83 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.453;DP=233;Dels=0.00;FS=3.067;HRun=0;HaplotypeScore=3.5981;MQ=51.60;MQ0=0;MQRankSum=-1.212;QD=29.07;ReadPosRankSum=-1.554;SB=-4482.01;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,232:233:99:6773,456,0:0.996:99 chr7 107560191 rs4518 C T 11230.75 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.250;DP=436;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5706;MQ=51.82;MQ0=0;MQRankSum=-1.510;QD=25.76;ReadPosRankSum=-0.160;SB=-8194.26;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,434:436:99:11231,750,0:0.995:99 chr7 107560651 rs7777259 G T 2321.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.525;DP=221;Dels=0.00;FS=4.592;HRun=0;HaplotypeScore=5.6757;MQ=50.70;MQ0=0;MQRankSum=-0.715;QD=10.51;ReadPosRankSum=-0.079;SB=-1540.10;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:115,106:221:99:2352,0,2444:0.480:99 chr7 107560682 rs2158835 T C 6387.18 PASS AC=2;AF=1.00;AN=2;DP=247;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=50.70;MQ0=0;QD=25.86;SB=-4624.03;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,247:247:99:6387,448,0:1.000:99 chr7 107561155 rs2108223 T C 5282.69 PASS AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=51.41;MQ0=0;QD=25.52;SB=-3618.64;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,207:207:99:5283,370,0:1.000:99 chr7 107561392 rs8440 G A 3701.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.958;DP=285;Dels=0.00;FS=2.581;HRun=0;HaplotypeScore=5.8928;MQ=48.29;MQ0=0;MQRankSum=1.915;QD=12.99;ReadPosRankSum=-0.692;SB=-2696.35;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:127,158:285:99:3701,0,2657:0.554:99 chr7 117188736 rs4727853 C A 1788.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.258;DP=489;Dels=0.00;FS=0.835;HRun=2;HaplotypeScore=10.8345;MQ=43.58;MQ0=46;MQRankSum=-10.068;QD=3.66;ReadPosRankSum=-3.354;SB=-1254.33;TI=NM_000492;GI=CFTR;FC=Missense_N417K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:336,153:489:99:1818,0,7138:0.313:99 chr7 117188750 . C T 1288.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.788;DP=513;Dels=0.00;FS=0.902;HRun=2;HaplotypeScore=8.1460;MQ=42.92;MQ0=68;MQRankSum=-8.430;QD=2.51;ReadPosRankSum=1.954;SB=-944.91;TI=NM_000492;GI=CFTR;FC=Missense_S422F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:390,123:513:99:1318,0,7775:0.240:99 chr7 117188797 rs74935724 A G 1025.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.312;DP=533;Dels=0.00;FS=2.781;HRun=0;HaplotypeScore=13.8334;MQ=42.89;MQ0=100;MQRankSum=-8.677;QD=1.92;ReadPosRankSum=4.726;SB=-687.00;TI=NM_000492;GI=CFTR;FC=Missense_T438A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:410,123:533:99:1055,0,7973:0.231:99 chr7 117188850 rs79074685 G T 341.63 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=3.037;DP=320;Dels=0.00;FS=10.967;HRun=0;HaplotypeScore=34.5451;MQ=48.88;MQ0=38;MQRankSum=-7.553;QD=1.07;ReadPosRankSum=-5.061;SB=-0.01;TI=NM_000492;GI=CFTR;FC=Synonymous_A455A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:262,58:320:99:372,0,6279:0.181:99 chr8 1729217 rs11778824 C T 5328.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.280;DP=489;Dels=0.00;FS=0.326;HRun=2;HaplotypeScore=11.5743;MQ=46.57;MQ0=0;MQRankSum=2.781;QD=10.90;ReadPosRankSum=1.667;SB=-4541.24;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:222,267:489:99:5329,0,4300:0.546:99 chr8 1729514 rs1137514 A G 246.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.092;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.4537;MQ=42.04;MQ0=0;MQRankSum=-1.007;QD=6.16;ReadPosRankSum=0.581;SB=-177.97;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,14:40:99:277,0,598:0.350:99 chr8 1729531 . CA C 98.48 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.928;DP=44;FS=7.508;HRun=21;HaplotypeScore=165.2340;MQ=42.81;MQ0=0;MQRankSum=0.615;QD=2.24;ReadPosRankSum=0.503;SB=-46.36;TI=NM_018941;GI=CLN8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,11:44:99:138,0,225:0.355:98 chr8 1729580 . A T 28.35 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.864;DP=42;Dels=0.00;FS=5.289;HRun=1;HaplotypeScore=12.5087;MQ=44.40;MQ0=0;MQRankSum=-2.175;QD=0.68;ReadPosRankSum=-2.758;SB=-0.01;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,5:42:58.34:58,0,1156:0.119:28 chr8 1729581 . T G 26.93 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.309;DP=41;Dels=0.00;FS=5.244;HRun=0;HaplotypeScore=12.5087;MQ=44.71;MQ0=0;MQRankSum=-2.495;QD=0.66;ReadPosRankSum=-2.781;SB=-0.01;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,5:41:56.91:57,0,1150:0.125:26 chr8 1729582 . C G 28.35 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.951;DP=43;Dels=0.00;FS=8.125;HRun=0;HaplotypeScore=12.5087;MQ=44.38;MQ0=0;MQRankSum=-2.178;QD=0.66;ReadPosRankSum=-2.065;SB=-0.01;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,5:43:58.34:58,0,1176:0.116:28 chr8 1729701 . G GT 428.04 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.545;DP=424;FS=1.688;HRun=14;HaplotypeScore=547.1819;MQ=48.36;MQ0=1;MQRankSum=2.906;QD=1.01;ReadPosRankSum=-0.828;SB=-196.50;TI=NM_018941;GI=CLN8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:270,65:423:99:467,0,5711:0.194:99 chr8 1732224 rs10089222 G C 163.76 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.830;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.00;MQ0=0;MQRankSum=-2.196;QD=9.63;ReadPosRankSum=-1.903;SB=-172.95;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,10:17:99:194,0,181:0.588:99 chr8 1732263 . C G 80.00 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.531;DP=29;Dels=0.00;FS=12.231;HRun=2;HaplotypeScore=3.9983;MQ=44.18;MQ0=0;MQRankSum=-3.402;QD=2.76;ReadPosRankSum=-2.528;SB=-0.01;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,5:29:99:110,0,523:0.185:80 chr8 1732264 . C T 49.58 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.375;DP=29;Dels=0.00;FS=9.455;HRun=0;HaplotypeScore=3.9983;MQ=44.18;MQ0=0;MQRankSum=-3.493;QD=1.71;ReadPosRankSum=-2.627;SB=-0.01;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,5:29:79.57:80,0,516:0.172:49 chr8 1732265 . A G 69.24 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.375;DP=29;Dels=0.00;FS=12.308;HRun=0;HaplotypeScore=3.9983;MQ=44.18;MQ0=0;MQRankSum=-3.262;QD=2.39;ReadPosRankSum=-2.627;SB=-0.01;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,5:29:99:99,0,577:0.172:69 chr8 1732269 . T C 76.99 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.241;DP=29;Dels=0.00;FS=12.308;HRun=0;HaplotypeScore=1.9995;MQ=44.18;MQ0=0;MQRankSum=-3.493;QD=2.65;ReadPosRankSum=-2.627;SB=-0.01;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,5:29:99:107,0,572:0.172:76 chr8 1732270 . G A 76.99 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.895;DP=29;Dels=0.00;FS=12.308;HRun=0;HaplotypeScore=1.9995;MQ=44.18;MQ0=0;MQRankSum=-3.493;QD=2.65;ReadPosRankSum=-2.627;SB=-0.01;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,5:29:99:107,0,577:0.172:76 chr8 1732275 . A G 203.05 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.990;DP=33;Dels=0.00;FS=19.133;HRun=0;HaplotypeScore=0.0000;MQ=42.87;MQ0=0;MQRankSum=-3.658;QD=6.15;ReadPosRankSum=-3.577;SB=-0.01;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,9:33:99:233,0,565:0.273:99 chr8 1732278 . C T 170.70 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.788;DP=33;Dels=0.00;FS=18.687;HRun=0;HaplotypeScore=1.7882;MQ=42.87;MQ0=0;MQRankSum=-3.780;QD=5.17;ReadPosRankSum=-4.184;SB=-0.01;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,9:33:99:201,0,554:0.273:99 chr8 1732285 . CTACT C 488.18 SB AC=1;AF=0.50;AN=2;BaseQRankSum=4.345;DP=33;FS=19.133;HRun=0;HaplotypeScore=242.6260;MQ=42.87;MQ0=0;MQRankSum=-3.456;QD=14.79;ReadPosRankSum=-0.424;SB=-0.00;TI=NM_018941;GI=CLN8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,9:33:99:527,0,1689:0.273:99 chr8 1732297 . C A 202.09 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.141;DP=33;Dels=0.00;FS=22.975;HRun=7;HaplotypeScore=2.6823;MQ=42.87;MQ0=0;MQRankSum=-3.780;QD=6.12;ReadPosRankSum=-4.386;SB=-0.01;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,9:33:99:232,0,565:0.273:99 chr8 1732580 rs7827009 C G 2105.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.758;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7581;MQ=48.16;MQ0=0;MQRankSum=2.415;QD=11.20;ReadPosRankSum=-0.165;SB=-1714.71;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,102:188:99:2136,0,1725:0.543:99 chr8 1732756 rs7827285 C A 3284.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.348;DP=308;Dels=0.00;FS=0.415;HRun=0;HaplotypeScore=1.7882;MQ=44.69;MQ0=0;MQRankSum=-0.482;QD=10.66;ReadPosRankSum=3.510;SB=-2727.05;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:146,162:308:99:3284,0,2903:0.526:99 chr8 1733369 rs56270086 C T 1467.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.451;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2731;MQ=41.35;MQ0=0;MQRankSum=-0.470;QD=11.20;ReadPosRankSum=-0.372;SB=-1185.37;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,72:131:99:1497,0,1142:0.550:99 chr8 1733603 . G A 62.83 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-1.313;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.0360;MQ=10.39;MQ0=130;MQRankSum=-1.881;QD=0.34;ReadPosRankSum=0.192;SB=-43.97;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:167,20:187:92.82:93,0,241:0.107:62 chr8 1734452 rs3812477 C G 2668.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.023;DP=227;Dels=0.00;FS=4.077;HRun=0;HaplotypeScore=5.3545;MQ=50.85;MQ0=0;MQRankSum=0.220;QD=11.75;ReadPosRankSum=0.452;SB=-1026.16;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:119,107:227:99:2698,0,2721:0.473:99 chr8 15397916 rs74549755 T C 13.64 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-1.836;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9577;MQ=53.44;MQ0=0;MQRankSum=-1.478;QD=0.65;ReadPosRankSum=0.134;SB=-12.93;TI=NM_006765,NM_178234;GI=TUSC3,TUSC3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,4:21:43.44:43,0,431:0.190:13 chr8 22021037 rs4715 C A 1167.54 PASS AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=45.34;MQ0=0;QD=22.45;SB=-1043.07;TI=NM_003018,NM_001172410,NM_001172357;GI=SFTPC,SFTPC,SFTPC;FC=Missense_T138N,Missense_T138N,Missense_T138N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,52:52:81.27:1201,81,0:1.000:81 chr8 22021517 rs1124 G A 1345.09 PASS AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=46.12;MQ0=0;QD=25.38;SB=-958.14;TI=NM_003018,NM_001172410,NM_001172357;GI=SFTPC,SFTPC,SFTPC;FC=Missense_S186N,Missense_S186N,Missense_S180N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,53:53:96.32:1378,96,0:1.000:96 chr8 22021883 rs7592 G A 2081.67 PASS AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7333;MQ=52.26;MQ0=0;QD=26.02;SB=-1294.44;TI=NM_003018,NM_001172410,NM_001172357;GI=SFTPC,SFTPC,SFTPC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,80:80:99:2115,150,0:1.000:99 chr8 22021934 rs1139547;rs11552819 G A 1818.18 PASS AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.41;MQ0=0;QD=25.61;SB=-1196.77;TI=NM_003018,NM_001172410,NM_001172357;GI=SFTPC,SFTPC,SFTPC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,71:71:99:1851,129,0:1.000:99 chr8 27661066 . T C 101.83 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-1.023;DP=204;Dels=0.00;FS=6.231;HRun=0;HaplotypeScore=29.4161;MQ=47.23;MQ0=0;MQRankSum=-1.443;QD=0.50;ReadPosRankSum=-4.150;SB=-31.12;TI=NM_001017420;GI=ESCO2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:182,22:204:99:132,0,4600:0.108:99 chr8 27661085 rs62498042 G A 5794.27 PASS AC=2;AF=1.00;AN=2;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.87;MQ0=0;QD=28.83;SB=-3313.25;TI=NM_001017420;GI=ESCO2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,201:201:99:5794,424,0:1.000:99 chr8 27661421 . AT A 313.86 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.629;DP=283;FS=3.308;HRun=15;HaplotypeScore=378.2690;MQ=49.61;MQ0=0;MQRankSum=2.847;QD=1.11;ReadPosRankSum=0.027;SB=-146.59;TI=NM_001017420;GI=ESCO2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:176,40:283:99:353,0,3560:0.185:99 chr8 38000267 rs3990403 T C 221.31 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=43.18;MQ0=0;QD=24.59;SB=-115.27;TI=NM_000349;GI=STAR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,9:9:18.06:254,18,0:1.000:18 chr8 38000823 . ATT A,AT 282.96 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=0.540;DP=37;FS=0.000;HaplotypeScore=84.7021;MQ=47.35;MQ0=0;MQRankSum=-1.020;QD=7.65;ReadPosRankSum=-0.300;SB=-121.70;TI=NM_000349;GI=STAR;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:15,7,0:37:59.79:361,60,141,131,0,142:0.318:59 chr8 38001037 . A C 18.87 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9907;MQ=42.36;MQ0=0;MQRankSum=-1.589;QD=2.36;ReadPosRankSum=-0.572;SB=-18.39;TI=NM_000349;GI=STAR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:48.81:49,0,153:0.250:18 chr8 38005835 rs2229620 T C 1562.86 PASS AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=45.61;MQ0=0;QD=22.65;SB=-1360.22;TI=NM_000349;GI=STAR;FC=Synonymous_L63L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,69:69:99:1596,108,0:1.000:99 chr8 43054553 rs1126058 T C 6112.12 PASS AC=2;AF=1.00;AN=2;DP=256;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7792;MQ=47.12;MQ0=0;QD=23.88;SB=-4599.96;TI=NM_152419;GI=HGSNAT;FC=Synonymous_Y583Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,254:256:99:6112,418,0:1.000:99 chr8 43056513 rs3739431 T C 166.04 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=38.72;MQ0=0;QD=18.45;SB=-120.02;TI=NM_152419;GI=HGSNAT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,9:9:15.04:199,15,0:1.000:15 chr8 63972324 rs6472068 C T 2811.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.227;DP=261;Dels=0.00;FS=4.322;HRun=0;HaplotypeScore=10.3086;MQ=54.08;MQ0=0;MQRankSum=3.427;QD=10.77;ReadPosRankSum=-2.487;SB=-1877.73;TI=NM_000370;GI=TTPA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:129,132:261:99:2842,0,2915:0.506:99 chr8 63972718 rs4587328 C T 3166.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.144;DP=214;Dels=0.00;FS=0.534;HRun=0;HaplotypeScore=0.8941;MQ=54.66;MQ0=0;MQRankSum=0.805;QD=14.79;ReadPosRankSum=-1.273;SB=-1313.18;TI=NM_000370;GI=TTPA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:97,117:214:99:3196,0,2526:0.547:99 chr8 63973232 . GAAA G 3054.20 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.718;DP=204;FS=7.447;HRun=15;HaplotypeScore=307.7446;MQ=49.85;MQ0=0;MQRankSum=0.337;QD=14.97;ReadPosRankSum=-0.784;SB=-1196.47;TI=NM_000370;GI=TTPA;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,66:204:99:3093,0,2856:0.496:99 chr8 75262798 rs7828201 G C 3996.09 PASS AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=46.01;MQ0=0;QD=23.10;SB=-3388.10;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Synonymous_S34S,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,173:173:99:3996,271,0:1.000:99 chr8 75274141 rs11554166 T G 6087.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.890;DP=553;Dels=0.00;FS=0.632;HRun=1;HaplotypeScore=13.9344;MQ=51.40;MQ0=0;MQRankSum=3.918;QD=11.01;ReadPosRankSum=1.019;SB=-4859.23;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Synonymous_S169S,Synonymous_S101S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:259,294:553:99:6087,0,5237:0.532:99 chr8 75277399 rs7007283 A G 5398.47 PASS AC=2;AF=1.00;AN=2;DP=213;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=12.5577;MQ=47.10;MQ0=0;QD=25.34;SB=-3799.23;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,213:213:99:5398,376,0:1.000:99 chr8 75277775 rs72665430 G T 3478.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.321;DP=316;Dels=0.00;FS=1.352;HRun=1;HaplotypeScore=9.4360;MQ=48.86;MQ0=0;MQRankSum=-1.447;QD=11.01;ReadPosRankSum=0.997;SB=-2812.26;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:145,171:316:99:3478,0,2950:0.541:99 chr8 75278457 rs6472842 A G 3447.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.129;DP=269;Dels=0.00;FS=1.500;HRun=0;HaplotypeScore=7.6808;MQ=54.34;MQ0=0;MQRankSum=3.183;QD=12.82;ReadPosRankSum=3.103;SB=-1774.72;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:136,133:269:99:3447,0,3525:0.494:99 chr8 75278816 rs10504580 A G 3018.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.125;DP=309;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7879;MQ=50.30;MQ0=0;MQRankSum=-0.483;QD=9.77;ReadPosRankSum=-0.933;SB=-1791.82;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:171,138:309:99:3048,0,3955:0.447:99 chr8 75279333 rs71563287 C CAA 1075.41 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.269;DP=97;FS=1.197;HRun=15;HaplotypeScore=262.6015;MQ=49.48;MQ0=0;MQRankSum=-0.223;QD=11.09;ReadPosRankSum=-0.453;SB=-463.17;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Splicing,Splicing;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,20:96:99:1114,0,414:0.426:99 chr8 86389403 rs703 T C 1866.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.477;DP=219;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8936;MQ=47.06;MQ0=0;MQRankSum=-1.074;QD=8.52;ReadPosRankSum=-0.809;SB=-1548.14;TI=NM_000067;GI=CA2;FC=Synonymous_L188L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:125,94:219:99:1897,0,2573:0.429:99 chr8 90946056 rs9995 A G 3602.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.070;DP=221;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3478;MQ=55.84;MQ0=0;MQRankSum=2.618;QD=16.30;ReadPosRankSum=0.935;SB=-1212.27;TI=NM_002485;GI=NBN;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,123:221:99:3603,0,2540:0.557:99 chr8 90946601 rs1063054 T G 4473.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.334;DP=395;Dels=0.00;FS=4.478;HRun=0;HaplotypeScore=10.1246;MQ=51.72;MQ0=0;MQRankSum=-1.176;QD=11.33;ReadPosRankSum=-4.051;SB=-2527.33;TI=NM_002485;GI=NBN;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:201,194:395:99:4473,0,4413:0.491:99 chr8 90947269 rs2735383 C G 2815.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.191;DP=225;Dels=0.00;FS=1.634;HRun=0;HaplotypeScore=0.8941;MQ=48.81;MQ0=0;MQRankSum=0.344;QD=12.51;ReadPosRankSum=0.912;SB=-2057.62;TI=NM_002485;GI=NBN;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,127:225:99:2845,0,2104:0.564:99 chr8 90947537 rs1063053 C T 3396.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.621;DP=267;Dels=0.00;FS=0.939;HRun=0;HaplotypeScore=5.5094;MQ=52.47;MQ0=0;MQRankSum=1.461;QD=12.72;ReadPosRankSum=0.868;SB=-2101.94;TI=NM_002485;GI=NBN;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:131,136:267:99:3396,0,3224:0.509:99 chr8 90958422 rs1061302 T C 7110.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.236;DP=622;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.4749;MQ=52.41;MQ0=0;MQRankSum=1.844;QD=11.43;ReadPosRankSum=2.297;SB=-5498.24;TI=NM_002485;GI=NBN;FC=Synonymous_P672P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:297,324:622:99:7110,0,6265:0.522:99 chr8 90967711 rs709816 A G 3974.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.737;DP=318;Dels=0.00;FS=1.876;HRun=0;HaplotypeScore=6.4697;MQ=51.81;MQ0=0;MQRankSum=0.506;QD=12.50;ReadPosRankSum=-0.667;SB=-2375.96;TI=NM_002485;GI=NBN;FC=Synonymous_D399D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:149,168:318:99:3975,0,3501:0.530:99 chr8 90990479 rs1805794 C G 3432.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.144;DP=374;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8831;MQ=48.53;MQ0=0;MQRankSum=-3.548;QD=9.18;ReadPosRankSum=-3.260;SB=-2773.52;TI=NM_002485;GI=NBN;FC=Missense_E185Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:205,169:374:99:3432,0,4541:0.452:99 chr8 90995019 rs1063045 C T 4528.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.347;DP=489;Dels=0.00;FS=0.328;HRun=1;HaplotypeScore=10.5721;MQ=50.64;MQ0=0;MQRankSum=1.928;QD=9.26;ReadPosRankSum=1.074;SB=-3346.13;TI=NM_002485;GI=NBN;FC=Synonymous_L34L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:272,217:489:99:4529,0,5930:0.444:99 chr8 94768009 . C T 155.75 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-4.146;DP=81;Dels=0.00;FS=20.166;HRun=2;HaplotypeScore=88.4582;MQ=38.75;MQ0=0;MQRankSum=-2.360;QD=1.92;ReadPosRankSum=1.563;SB=-0.01;TI=NM_001142301,NM_153704,NR_024522;GI=TMEM67,TMEM67,TMEM67;FC=Silent,Missense_T76I,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,23:81:99:186,0,1191:0.288:99 chr8 94808165 rs3134031 A G 6422.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.012;DP=513;Dels=0.00;FS=1.024;HRun=0;HaplotypeScore=19.8707;MQ=53.19;MQ0=0;MQRankSum=2.991;QD=12.52;ReadPosRankSum=2.150;SB=-4231.42;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 0/1:257,256:513:99:6422,0,5957:0.499:99 chr8 94831346 rs3133973 G A 4505.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.146;DP=400;Dels=0.00;FS=2.697;HRun=2;HaplotypeScore=10.7291;MQ=54.61;MQ0=0;MQRankSum=2.570;QD=11.26;ReadPosRankSum=1.451;SB=-2338.57;TI=NR_024522;GI=TMEM67;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:209,190:400:99:4506,0,4750:0.476:99 chr8 94935937 rs4735258 T C 2457.49 PASS AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7848;MQ=51.17;MQ0=0;QD=24.57;SB=-1834.15;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 1/1:0,100:100:99:2490,172,0:1.000:99 chr8 94936532 rs911 G C 1489.02 PASS AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.68;MQ0=0;QD=28.63;SB=-839.96;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 1/1:0,52:52:99:1522,108,0:1.000:99 chr8 94936566 . AG A 1454.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.121;DP=82;FS=6.026;HRun=3;HaplotypeScore=130.9207;MQ=56.52;MQ0=0;MQRankSum=2.906;QD=17.73;ReadPosRankSum=0.167;SB=-635.53;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 0/1:39,43:82:99:1493,0,1327:0.524:99 chr8 94937549 . G GT 127.89 R8;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.910;DP=18;FS=0.000;HRun=13;HaplotypeScore=40.1925;MQ=49.32;MQ0=0;MQRankSum=-0.755;QD=7.10;ReadPosRankSum=0.489;SB=-47.76;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 0/1:7,8:18:99:167,0,108:0.533:99 chr8 97239613 rs2292836 A C 2398.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.204;DP=220;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.8927;MQ=48.45;MQ0=0;MQRankSum=1.305;QD=10.90;ReadPosRankSum=2.517;SB=-1884.42;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:106,114:220:99:2429,0,2247:0.518:99 chr8 97240129 rs10504961 C T 4326.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.143;DP=403;Dels=0.00;FS=1.206;HRun=1;HaplotypeScore=12.1907;MQ=51.77;MQ0=4;MQRankSum=1.375;QD=10.73;ReadPosRankSum=1.130;SB=-2264.83;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:213,190:403:99:4326,0,4929:0.471:99 chr8 97240847 rs13253635 A G 3705.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.552;DP=378;Dels=0.00;FS=0.775;HRun=0;HaplotypeScore=11.7854;MQ=49.47;MQ0=0;MQRankSum=1.128;QD=9.80;ReadPosRankSum=0.938;SB=-2867.37;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:202,176:378:99:3705,0,4334:0.466:99 chr8 97242124 rs7002575 G A 3324.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.240;DP=311;Dels=0.00;FS=0.886;HRun=0;HaplotypeScore=8.5752;MQ=50.13;MQ0=0;MQRankSum=-0.525;QD=10.69;ReadPosRankSum=-0.955;SB=-1907.21;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:167,144:311:99:3324,0,4005:0.463:99 chr8 97242133 rs35954659 ACT A 6724.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=14.220;DP=303;FS=2.580;HRun=0;HaplotypeScore=664.3020;MQ=49.99;MQ0=0;MQRankSum=-1.245;QD=22.19;ReadPosRankSum=-0.856;SB=-2703.01;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:162,139:303:99:6724,0,7951:0.462:99 chr8 97242849 rs7836698 C T 2629.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.483;DP=252;Dels=0.02;FS=1.540;HRun=5;HaplotypeScore=18.1963;MQ=46.97;MQ0=0;MQRankSum=-1.381;QD=10.44;ReadPosRankSum=0.103;SB=-1831.11;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:123,125:248:99:2660,0,2594:0.504:99 chr8 100844758 rs36074608 T C 478.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.875;DP=69;Dels=0.00;FS=0.928;HRun=2;HaplotypeScore=1.8938;MQ=45.61;MQ0=0;MQRankSum=-1.900;QD=6.93;ReadPosRankSum=0.609;SB=-403.29;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Synonymous_S3189S,Synonymous_S3164S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,27:69:99:508,0,923:0.391:99 chr8 100888322 rs10537000 CTAT C 1962.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.704;DP=81;FS=2.944;HRun=0;HaplotypeScore=17.4981;MQ=47.36;MQ0=0;MQRankSum=-2.169;QD=24.22;ReadPosRankSum=0.005;SB=-910.41;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,39:81:99:2001,0,2178:0.481:99 chr8 103220351 rs59015244 A G 3747.94 PASS AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=53.51;MQ0=0;QD=30.23;SB=-1857.70;TI=NM_001172477,NM_001172478,NM_015713;GI=RRM2B,RRM2B,RRM2B;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,123:124:99:3748,271,0:1.000:99 chr8 119964052 rs2073618 G C 989.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.640;DP=92;Dels=0.00;FS=1.698;HRun=0;HaplotypeScore=0.0000;MQ=47.35;MQ0=0;MQRankSum=-0.781;QD=10.76;ReadPosRankSum=0.859;SB=-645.82;TI=NM_002546;GI=TNFRSF11B;FC=Missense_N3K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,47:92:99:1020,0,937:0.511:99 chr8 119964283 rs2073617 G A 734.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.266;DP=82;Dels=0.00;FS=1.832;HRun=0;HaplotypeScore=1.7608;MQ=51.72;MQ0=0;MQRankSum=-1.153;QD=8.96;ReadPosRankSum=-2.728;SB=-442.00;TI=NM_002546;GI=TNFRSF11B;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,35:82:99:765,0,986:0.427:99 chr8 141263015 rs11166965 G A 1937.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.129;DP=250;Dels=0.00;FS=0.473;HRun=0;HaplotypeScore=12.6737;MQ=48.37;MQ0=0;MQRankSum=0.793;QD=7.75;ReadPosRankSum=-0.250;SB=-1454.02;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Synonymous_G764G,Synonymous_G862G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:152,98:250:99:1967,0,3336:0.392:99 chr8 143953937 rs4736312 A C 1350.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.944;DP=99;Dels=0.00;FS=1.652;HRun=1;HaplotypeScore=5.7873;MQ=57.85;MQ0=0;MQRankSum=0.634;QD=13.64;ReadPosRankSum=-0.992;SB=-782.17;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,52:99:99:1380,0,1278:0.525:99 chr8 143954223 rs1134096 C A 920.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.337;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=49.05;MQ0=0;MQRankSum=1.096;QD=10.01;ReadPosRankSum=0.086;SB=-636.76;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,43:92:99:951,0,1137:0.467:99 chr8 143954290 rs1134095 G A 2060.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.192;DP=193;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=3.7878;MQ=44.26;MQ0=0;MQRankSum=-1.223;QD=10.68;ReadPosRankSum=3.275;SB=-1625.41;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,98:193:99:2091,0,1901:0.508:99 chr8 143954372 rs61752812 C T 1046.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.394;DP=88;Dels=0.00;FS=1.772;HRun=1;HaplotypeScore=0.0000;MQ=53.29;MQ0=0;MQRankSum=2.134;QD=11.89;ReadPosRankSum=0.958;SB=-795.21;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,49:88:99:1076,0,934:0.557:99 chr8 143954501 rs61752809 T C 1485.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.407;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9944;MQ=45.10;MQ0=0;MQRankSum=-1.628;QD=11.42;ReadPosRankSum=-0.289;SB=-1059.44;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,69:130:99:1515,0,1291:0.531:99 chr8 143954650 . CT C 1125.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.854;DP=64;FS=0.000;HRun=1;HaplotypeScore=135.2696;MQ=49.82;MQ0=0;MQRankSum=-0.262;QD=17.59;ReadPosRankSum=0.101;SB=-579.51;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,30:64:99:1165,0,1325:0.469:99 chr8 143954747 rs7003319 T C 738.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.999;DP=114;Dels=0.00;FS=2.564;HRun=1;HaplotypeScore=0.0000;MQ=44.04;MQ0=0;MQRankSum=-0.171;QD=6.48;ReadPosRankSum=-1.908;SB=-475.04;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,38:114:99:769,0,1584:0.333:99 chr8 143954769 rs5017238 G A 352.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.390;DP=83;Dels=0.00;FS=2.093;HRun=0;HaplotypeScore=0.8941;MQ=43.10;MQ0=0;MQRankSum=-0.559;QD=4.25;ReadPosRankSum=0.080;SB=-209.33;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,20:83:99:382,0,1314:0.241:99 chr8 143955051 rs5304;rs72552270 C T 650.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.921;DP=52;Dels=0.00;FS=2.551;HRun=1;HaplotypeScore=1.9994;MQ=49.75;MQ0=2;MQRankSum=-0.921;QD=12.50;ReadPosRankSum=-1.515;SB=-366.78;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,32:52:99:680,0,520:0.615:99 chr8 143955095 rs5303 A G 56.31 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=1.836;DP=21;Dels=0.00;FS=2.197;HRun=0;HaplotypeScore=0.0000;MQ=51.42;MQ0=0;MQRankSum=-0.851;QD=2.68;ReadPosRankSum=-0.134;SB=-12.92;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,4:21:86.30:86,0,380:0.190:56 chr8 143955318 rs12543598 T G 33.87 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DP=7;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.7350;MQ=50.37;MQ0=0;MQRankSum=0.406;QD=4.84;ReadPosRankSum=-0.406;SB=-29.24;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,3:7:63.86:64,0,73:0.500:33 chr8 143955471 rs5299 T C 81.02 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.937;QD=11.57;ReadPosRankSum=0.550;SB=-69.26;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,4:7:70.37:111,0,70:0.571:70 chr8 143955657 rs5297 A G 838.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.805;DP=103;Dels=0.00;FS=0.753;HRun=0;HaplotypeScore=0.8941;MQ=42.20;MQ0=0;MQRankSum=-1.406;QD=8.14;ReadPosRankSum=-1.539;SB=-714.32;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,45:103:99:868,0,1128:0.437:99 chr8 143957129 rs61752786;rs78354466 G T 343.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.028;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=37.39;MQ0=2;MQRankSum=1.028;QD=9.05;ReadPosRankSum=-1.123;SB=-214.55;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Unknown_374,Unknown_374;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,19:38:99:374,0,411:0.500:99 chr8 143961005 rs6410 T C 269.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.338;DP=29;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7882;MQ=50.99;MQ0=0;MQRankSum=-1.688;QD=9.29;ReadPosRankSum=2.127;SB=-202.36;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Synonymous_L75L,Synonymous_L75L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,16:29:99:299,0,264:0.552:99 chr8 144989462 rs7155 A G 58.30 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=14.57;SB=-80.02;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 1/1:0,4:4:6.02:90,6,0:1.000:6 chr8 144991176 rs6558405 T C 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_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_S4271S,Synonymous_S4275S,Synonymous_S4271S,Synonymous_S4239S,Synonymous_S4408S,Synonymous_S4249S,Synonymous_S4257S,Synonymous_S4298S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chr8 144992103 rs6558406 T C 2039.18 PASS AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6537;MQ=43.71;MQ0=0;QD=23.71;SB=-1553.99;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_T3962T,Synonymous_T3966T,Synonymous_T3962T,Synonymous_T3930T,Synonymous_T4099T,Synonymous_T3940T,Synonymous_T3948T,Synonymous_T3989T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,86:86:99:2072,144,0:1.000:99 chr8 144992361 rs7822511 T C 1530.54 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.630;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=41.89;MQ0=0;MQRankSum=1.477;QD=22.51;ReadPosRankSum=1.528;SB=-1252.69;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_P3876P,Synonymous_P3880P,Synonymous_P3876P,Synonymous_P3844P,Synonymous_P4013P,Synonymous_P3854P,Synonymous_P3862P,Synonymous_P3903P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,67:68:99:1564,108,0:0.985:99 chr8 144992862 rs7819099 A G 2733.30 PASS AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=41.88;MQ0=0;QD=22.97;SB=-2220.63;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_A3709A,Synonymous_A3713A,Synonymous_A3709A,Synonymous_A3677A,Synonymous_A3846A,Synonymous_A3687A,Synonymous_A3695A,Synonymous_A3736A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,119:119:99:2766,190,0:1.000:99 chr8 144993324 rs6984820 C T 2878.34 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.704;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.86;MQ0=0;MQRankSum=-0.223;QD=23.21;ReadPosRankSum=0.140;SB=-2386.61;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_T3555T,Synonymous_T3559T,Synonymous_T3555T,Synonymous_T3523T,Synonymous_T3692T,Synonymous_T3533T,Synonymous_T3541T,Synonymous_T3582T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,123:124:99:2911,199,0:0.992:99 chr8 144993377 rs6992333 A G 1651.86 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=46.08;MQ0=0;QD=24.65;SB=-1267.05;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_L3538L,Synonymous_L3542L,Synonymous_L3538L,Synonymous_L3506L,Synonymous_L3675L,Synonymous_L3516L,Synonymous_L3524L,Synonymous_L3565L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:67:99:1685,117,0:1.000:99 chr8 144995494 rs6558407;rs76803079 C T 1260.98 PASS AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=46.68;MQ0=19;QD=17.76;SB=-1004.25;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_R2832H,Missense_R2836H,Missense_R2832H,Missense_R2800H,Missense_R2969H,Missense_R2810H,Missense_R2818H,Missense_R2859H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:17,54:71:90.30:1294,90,0:0.761:90 chr8 144995736 rs11777402 G A 340.54 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.98;MQ0=0;QD=26.20;SB=-197.81;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_N2751N,Synonymous_N2755N,Synonymous_N2751N,Synonymous_N2719N,Synonymous_N2888N,Synonymous_N2729N,Synonymous_N2737N,Synonymous_N2778N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,13:13:27.09:374,27,0:1.000:27 chr8 144996029 rs7833924 A G 1335.56 PASS AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9995;MQ=42.69;MQ0=0;QD=22.64;SB=-1136.94;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_S2654P,Missense_S2658P,Missense_S2654P,Missense_S2622P,Missense_S2791P,Missense_S2632P,Missense_S2640P,Missense_S2681P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,59:59:93.31:1369,93,0:1.000:93 chr8 144996408 rs11778026 T G 551.78 PASS AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.16;MQ0=0;QD=27.59;SB=-320.40;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_A2527A,Synonymous_A2531A,Synonymous_A2527A,Synonymous_A2495A,Synonymous_A2664A,Synonymous_A2505A,Synonymous_A2513A,Synonymous_A2554A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,20:20:42.14:585,42,0:1.000:42 chr8 144997656 rs7016416 C T 2328.34 PASS AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=47.00;MQ0=0;QD=22.61;SB=-1948.08;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_A2147A,Synonymous_A2151A,Synonymous_A2147A,Synonymous_A2115A,Synonymous_A2284A,Synonymous_A2125A,Synonymous_A2133A,Synonymous_A2174A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,103:103:99:2361,163,0:1.000:99 chr8 144997927 rs7002002 G A 585.48 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.605;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6308;MQ=42.96;MQ0=0;MQRankSum=1.605;QD=21.68;ReadPosRankSum=1.605;SB=-461.28;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_A2057V,Missense_A2061V,Missense_A2057V,Missense_A2025V,Missense_A2194V,Missense_A2035V,Missense_A2043V,Missense_A2084V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,26:27:42.14:618,42,0:0.963:42 chr8 144998169 rs1140522 C T 792.43 LowGQ;LowGQX AC=1;AF=0.50;AN=2;BaseQRankSum=-0.031;DP=40;Dels=0.00;FS=6.133;HRun=0;HaplotypeScore=14.4438;MQ=44.85;MQ0=0;MQRankSum=2.327;QD=19.81;ReadPosRankSum=0.465;SB=-656.88;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_A1976A,Synonymous_A1980A,Synonymous_A1976A,Synonymous_A1944A,Synonymous_A2113A,Synonymous_A1954A,Synonymous_A1962A,Synonymous_A2003A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,38:40:0.65:821,0,1:0.950:0 chr8 144998190 rs2857829 A G 399.24 LowDP AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.55;MQ0=0;QD=22.18;SB=-345.45;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_A1969A,Synonymous_A1973A,Synonymous_A1969A,Synonymous_A1937A,Synonymous_A2106A,Synonymous_A1947A,Synonymous_A1955A,Synonymous_A1996A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,18:18:30.10:432,30,0:1.000:30 chr8 144999417 rs55836855 C T 134.05 LowGQ;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.751;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8616;MQ=47.98;MQ0=0;MQRankSum=0.751;QD=14.89;ReadPosRankSum=0.751;SB=-130.37;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_A1560A,Synonymous_A1564A,Synonymous_A1560A,Synonymous_A1528A,Synonymous_A1697A,Synonymous_A1538A,Synonymous_A1546A,Synonymous_A1587A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,8:9:18.38:164,0,18:0.889:18 chr8 144999621 rs55646585 C T 98.15 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.736;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=40.66;MQ0=0;MQRankSum=0.736;QD=16.36;ReadPosRankSum=-0.736;SB=-75.60;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_A1492A,Synonymous_A1496A,Synonymous_A1492A,Synonymous_A1460A,Synonymous_A1629A,Synonymous_A1470A,Synonymous_A1478A,Synonymous_A1519A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,5:6:9.03:130,9,0:0.833:9 chr8 144999642 rs56117011 A C 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=60.00;MQ0=0;QD=7.46;SB=-40.65;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_A1485A,Synonymous_A1489A,Synonymous_A1485A,Synonymous_A1453A,Synonymous_A1622A,Synonymous_A1463A,Synonymous_A1471A,Synonymous_A1512A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr8 144999684 rs35916068 A G 321.07 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45.96;MQ0=0;QD=21.40;SB=-278.43;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_A1471A,Synonymous_A1475A,Synonymous_A1471A,Synonymous_A1439A,Synonymous_A1608A,Synonymous_A1449A,Synonymous_A1457A,Synonymous_A1498A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,15:15:24.08:354,24,0:1.000:24 chr8 145001031 rs55895668 T C 2062.34 PASS AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.22;MQ0=0;QD=24.55;SB=-1554.80;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_H1322R,Missense_H1326R,Missense_H1322R,Missense_H1290R,Missense_H1459R,Missense_H1300R,Missense_H1308R,Missense_H1349R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,84:84:99:2095,147,0:1.000:99 chr8 145001588 rs11136334 C T 841.27 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.636;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=41.74;MQ0=0;MQRankSum=1.444;QD=22.74;ReadPosRankSum=1.636;SB=-601.38;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_R1249Q,Missense_R1253Q,Missense_R1249Q,Missense_R1217Q,Missense_R1386Q,Missense_R1227Q,Missense_R1235Q,Missense_R1276Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,35:37:40.53:874,41,0:0.972:40 chr8 145001784 rs3135109 A G 2488.42 PASS AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=44.17;MQ0=0;QD=22.83;SB=-2113.58;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_L1184L,Synonymous_L1188L,Synonymous_L1184L,Synonymous_L1152L,Synonymous_L1321L,Synonymous_L1162L,Synonymous_L1170L,Synonymous_L1211L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,109:109:99:2521,175,0:1.000:99 chr8 145007187 rs11136336 G A 843.12 PASS AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.67;MQ0=0;QD=22.19;SB=-719.08;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_A504V,Missense_A508V,Missense_A504V,Missense_A472V,Missense_A641V,Missense_A482V,Missense_A490V,Missense_A531V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,38:38:60.20:876,60,0:1.000:60 chr8 145008560 rs11783799 A G 894.11 PASS AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.19;MQ0=0;QD=22.93;SB=-721.99;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_D365D,Synonymous_D369D,Synonymous_D365D,Synonymous_D333D,Synonymous_D502D,Synonymous_D343D,Synonymous_D351D,Synonymous_D392D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,39:39:63.21:927,63,0:1.000:63 chr8 145011204 rs6993938 A G 8734.72 PASS AC=2;AF=1.00;AN=2;DP=377;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7440;MQ=43.81;MQ0=0;QD=23.17;SB=-7028.38;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_A126A,Synonymous_A130A,Synonymous_A126A,Synonymous_A94A,Synonymous_A263A,Synonymous_A104A,Synonymous_A112A,Synonymous_A153A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,377:377:99:8735,596,0:1.000:99 chr9 286491 rs3209441 G A 1797.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.084;DP=201;Dels=0.00;FS=0.520;HRun=1;HaplotypeScore=6.5705;MQ=45.11;MQ0=0;MQRankSum=-0.394;QD=8.94;ReadPosRankSum=-1.289;SB=-1357.51;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Missense_D63N,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:111,90:201:99:1827,0,2313:0.448:99 chr9 312124 rs2039045 T C 3586.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.820;DP=302;Dels=0.00;FS=0.420;HRun=0;HaplotypeScore=8.3638;MQ=47.10;MQ0=0;MQRankSum=2.898;QD=11.87;ReadPosRankSum=1.312;SB=-2679.98;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_N233N,Synonymous_N165N,Synonymous_N165N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:132,170:302:99:3586,0,2628:0.563:99 chr9 334337 rs10970979 A G 1457.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.530;DP=121;Dels=0.00;FS=6.814;HRun=0;HaplotypeScore=3.9974;MQ=53.98;MQ0=0;MQRankSum=0.917;QD=12.05;ReadPosRankSum=-0.912;SB=-308.84;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 0/1:68,53:121:99:1488,0,1748:0.438:99 chr9 370244 rs913703 A G 1831.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.425;DP=172;Dels=0.00;FS=0.564;HRun=0;HaplotypeScore=8.7749;MQ=47.54;MQ0=0;MQRankSum=-1.754;QD=10.65;ReadPosRankSum=-2.746;SB=-1401.82;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_K604K,Synonymous_K536K,Synonymous_K536K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,88:172:99:1861,0,1682:0.512:99 chr9 377111 rs10814431 G C 2150.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.544;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7764;MQ=45.06;MQ0=0;MQRankSum=-2.300;QD=10.86;ReadPosRankSum=-0.998;SB=-1771.43;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_L780L,Synonymous_L712L,Synonymous_L712L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:90,108:198:99:2180,0,1838:0.545:99 chr9 390512 rs2297075 C T 7008.73 PASS AC=2;AF=1.00;AN=2;DP=276;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1525;MQ=47.67;MQ0=0;QD=25.39;SB=-4993.06;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_T972T,Synonymous_T904T,Synonymous_T872T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,276:276:99:7009,491,0:1.000:99 chr9 396835 rs7034926 T C 1837.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.537;DP=210;Dels=0.00;FS=0.517;HRun=1;HaplotypeScore=4.5658;MQ=48.81;MQ0=0;MQRankSum=1.531;QD=8.75;ReadPosRankSum=-0.625;SB=-1146.97;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_F1007F,Synonymous_F939F,Synonymous_F907F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:123,87:210:99:1867,0,2710:0.414:99 chr9 421032 rs2297079 C G 1327.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.096;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3539;MQ=45.49;MQ0=0;MQRankSum=0.566;QD=13.02;ReadPosRankSum=-0.723;SB=-957.11;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 0/1:41,61:102:99:1358,0,801:0.598:99 chr9 429719 rs7854035 T C 4587.10 PASS AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6443;MQ=44.12;MQ0=0;QD=24.02;SB=-3475.05;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 1/1:0,191:191:99:4587,316,0:1.000:99 chr9 441952 rs1887957 G A 3233.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.609;DP=321;Dels=0.00;FS=0.845;HRun=1;HaplotypeScore=4.8655;MQ=52.31;MQ0=0;MQRankSum=1.641;QD=10.07;ReadPosRankSum=1.754;SB=-2465.19;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 0/1:168,153:321:99:3262,0,3393:0.477:99 chr9 464920 rs3780338 G A 6474.50 PASS AC=2;AF=1.00;AN=2;DP=243;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8938;MQ=50.59;MQ0=0;QD=26.64;SB=-4228.57;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,243:243:99:6474,455,0:1.000:99 chr9 2622121 rs12379259 A G 1063.10 PASS AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=46.72;MQ0=0;QD=24.16;SB=-677.27;TI=NR_015375,NM_003383,NM_001018056;GI=FLJ35024,VLDLR,VLDLR;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,44:44:78.26:1096,78,0:1.000:78 chr9 6532477 rs7848919 G A 5328.30 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.289;DP=203;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.3348;MQ=50.43;MQ0=0;MQRankSum=-0.812;QD=26.25;ReadPosRankSum=-1.155;SB=-3534.34;TI=NM_000170;GI=GLDC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,199:203:99:5328,343,0:0.990:99 chr9 6532510 rs3215922 TA T 416.42 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.372;DP=272;FS=0.473;HRun=13;HaplotypeScore=1548.4902;MQ=51.48;MQ0=0;MQRankSum=3.624;QD=1.53;ReadPosRankSum=-1.403;SB=-205.85;TI=NM_000170;GI=GLDC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:179,38:272:99:455,0,3927:0.175:99 chr9 6532544 rs1061407 G A 2932.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.743;DP=250;Dels=0.00;FS=3.056;HRun=2;HaplotypeScore=34.3194;MQ=51.64;MQ0=0;MQRankSum=1.276;QD=11.73;ReadPosRankSum=1.111;SB=-1817.38;TI=NM_000170;GI=GLDC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:116,134:250:99:2963,0,2450:0.536:99 chr9 6533010 rs2228098 C G 1173.29 PASS AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.55;MQ0=0;QD=30.08;SB=-556.03;TI=NM_000170;GI=GLDC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,39:39:87.29:1206,87,0:1.000:87 chr9 6610326 rs35374927 C T 772.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.277;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=40.89;MQ0=12;MQRankSum=-2.211;QD=9.42;ReadPosRankSum=0.584;SB=-615.58;TI=NM_000170;GI=GLDC;FC=Synonymous_E167E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,38:82:99:803,0,663:0.463:99 chr9 33001449 rs1197774 C A 3463.04 PASS AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5484;MQ=48.83;MQ0=0;QD=24.91;SB=-2564.15;TI=NR_036579,NM_001195249,NR_036578,NM_001195254,NM_001195252,NR_036576,NR_036577,NM_001195251,NM_001195250,NM_175069,NM_001195248,NM_175073;GI=APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,139:139:99:3463,241,0:1.000:99 chr9 33113121 rs869 G A 2888.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.321;DP=238;Dels=0.00;FS=3.022;HRun=1;HaplotypeScore=13.0626;MQ=54.30;MQ0=0;MQRankSum=2.062;QD=12.14;ReadPosRankSum=-0.704;SB=-1411.22;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:116,122:238:99:2918,0,2547:0.513:99 chr9 33113196 rs7019896 G T 1139.30 PASS AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=54.01;MQ0=0;QD=28.48;SB=-515.73;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,40:40:84.28:1172,84,0:1.000:84 chr9 100459578 rs1800975 T C 2361.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.935;DP=284;Dels=0.00;FS=2.011;HRun=1;HaplotypeScore=8.0275;MQ=46.05;MQ0=0;MQRankSum=-2.686;QD=8.31;ReadPosRankSum=0.097;SB=-1956.52;TI=NR_027302,NM_000380;GI=XPA,XPA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:160,124:284:99:2391,0,3301:0.437:99 chr9 103054951 rs2787374 T C 1558.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.108;DP=122;Dels=0.00;FS=1.492;HRun=2;HaplotypeScore=5.7621;MQ=45.78;MQ0=0;MQRankSum=-0.045;QD=12.78;ReadPosRankSum=-0.610;SB=-1237.62;TI=NM_183245,NM_014425;GI=INVS,INVS;FC=Silent,Synonymous_S804S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,76:122:99:1589,0,834:0.623:99 chr9 104182940 rs491979 T C 672.90 PASS AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=48.18;MQ0=0;QD=24.92;SB=-478.22;TI=NM_000035;GI=ALDOB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,27:27:51.16:706,51,0:1.000:51 chr9 104183940 . AT A 3622.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.075;DP=249;FS=0.475;HRun=6;HaplotypeScore=295.1166;MQ=52.32;MQ0=0;MQRankSum=2.491;QD=14.55;ReadPosRankSum=-1.536;SB=-1593.61;TI=NM_000035;GI=ALDOB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:130,119:249:99:3622,0,3457:0.478:99 chr9 104184022 rs4577 G A 2285.59 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.138;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.29;MQ0=0;MQRankSum=-1.089;QD=32.65;ReadPosRankSum=-1.237;SB=-439.26;TI=NM_000035;GI=ALDOB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,69:70:99:2319,137,0:0.986:99 chr9 108398331 rs10978177 T G 1408.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.285;DP=98;Dels=0.00;FS=3.711;HRun=0;HaplotypeScore=1.9992;MQ=55.67;MQ0=0;MQRankSum=1.297;QD=14.37;ReadPosRankSum=1.524;SB=-832.98;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,50:98:99:1438,0,1255:0.510:99 chr9 108398678 rs2768282 A G 1863.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.996;DP=221;Dels=0.00;FS=1.060;HRun=0;HaplotypeScore=5.5758;MQ=47.17;MQ0=0;MQRankSum=-2.361;QD=8.43;ReadPosRankSum=0.152;SB=-1314.23;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:133,88:221:99:1893,0,2688:0.398:99 chr9 108399825 rs1024366 T C 1229.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.175;DP=129;Dels=0.00;FS=0.650;HRun=0;HaplotypeScore=5.5094;MQ=45.01;MQ0=0;MQRankSum=1.402;QD=9.53;ReadPosRankSum=-1.766;SB=-856.41;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,59:129:99:1260,0,1487:0.457:99 chr9 108402805 rs2010861 G T 1299.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.896;DP=111;Dels=0.00;FS=1.564;HRun=0;HaplotypeScore=9.9029;MQ=48.31;MQ0=0;MQRankSum=2.872;QD=11.70;ReadPosRankSum=3.580;SB=-972.78;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,63:111:99:1329,0,1095:0.568:99 chr9 108402835 . GA G 409.78 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.077;DP=175;FS=0.000;HRun=13;HaplotypeScore=482.5403;MQ=46.72;MQ0=0;MQRankSum=-0.424;QD=2.34;ReadPosRankSum=-1.598;SB=-182.88;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,29:175:99:449,0,2297:0.213:99 chr9 108403163 rs1048215 T A 2050.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.153;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=54.26;MQ0=0;MQRankSum=1.807;QD=14.44;ReadPosRankSum=1.395;SB=-1351.47;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,91:142:99:2081,0,1104:0.641:99 chr9 111653574 rs1063110 C G 3606.91 PASS AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=47.72;MQ0=0;QD=24.88;SB=-2756.60;TI=NM_003640;GI=IKBKAP;FC=Synonymous_L1023L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,145:145:99:3607,250,0:1.000:99 chr9 127243632 . C G 58.14 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.276;DP=25;Dels=0.00;FS=47.253;HRun=5;HaplotypeScore=5.6912;MQ=34.40;MQ0=0;MQRankSum=-2.887;QD=2.33;ReadPosRankSum=-2.548;SB=-2.75;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,5:25:88.14:88,0,665:0.200:58 chr9 127243637 rs10283445 A G 801.60 PASS AC=2;AF=1.00;AN=2;DP=25;Dels=0.04;FS=0.000;HRun=4;HaplotypeScore=3.8587;MQ=34.40;MQ0=0;QD=32.06;SB=-133.74;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,24:24:69.21:835,69,0:1.000:69 chr9 127243665 . A G 10.56 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.965;DP=25;Dels=0.00;FS=11.690;HRun=3;HaplotypeScore=10.9815;MQ=44.52;MQ0=0;MQRankSum=-2.467;QD=0.42;ReadPosRankSum=-2.049;SB=-0.01;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,3:25:40.16:40,0,539:0.120:10 chr9 127244134 rs10120967 G A 544.95 LowDP AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;QD=30.27;SB=-120.66;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,18:18:45.12:578,45,0:1.000:45 chr9 127244857 . T C 18.20 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=40.78;MQ0=0;MQRankSum=-1.026;QD=4.55;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:48.13:48,0,66:0.500:18 chr9 127244863 . A C 18.15 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=40.78;MQ0=0;MQRankSum=-1.026;QD=4.54;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:48.08:48,0,69:0.500:18 chr9 127244866 . T C 13.49 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=40.78;MQ0=0;MQRankSum=-1.026;QD=3.37;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:43.28:43,0,69:0.500:13 chr9 127244955 rs915034 G A 579.83 PASS AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=37.57;MQ0=0;QD=21.48;SB=-516.44;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,27:27:42.14:613,42,0:1.000:42 chr9 131267004 rs56214514 C T 1856.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.227;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=46.30;MQ0=0;MQRankSum=-0.571;QD=12.89;ReadPosRankSum=3.746;SB=-1276.72;TI=NM_001499,NM_001003722;GI=GLE1,GLE1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,86:144:99:1887,0,1157:0.601:99 chr9 131295875 rs72756895 G A 2486.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.291;DP=193;Dels=0.00;FS=3.394;HRun=0;HaplotypeScore=2.6548;MQ=46.49;MQ0=0;MQRankSum=-1.408;QD=12.88;ReadPosRankSum=0.755;SB=-1905.28;TI=NM_001499,NM_001003722;GI=GLE1,GLE1;FC=Missense_V466I,Missense_V466I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,118:193:99:2516,0,1643:0.611:99 chr9 133346226 rs10901072 C T 1508.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.651;DP=169;Dels=0.00;FS=0.563;HRun=0;HaplotypeScore=1.8499;MQ=42.17;MQ0=0;MQRankSum=-2.171;QD=8.92;ReadPosRankSum=-0.405;SB=-1264.97;TI=NM_000050,NM_054012;GI=ASS1,ASS1;FC=Synonymous_H167H,Synonymous_H167H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,78:169:99:1538,0,1849:0.462:99 chr9 134386744 rs10901065 T C 4636.52 PASS AC=2;AF=1.00;AN=2;DP=194;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=47.33;MQ0=0;QD=23.90;SB=-3790.35;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 1/1:0,194:194:99:4637,319,0:1.000:99 chr9 134387488 rs3739494 T C 2098.19 PASS AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.55;MQ0=0;QD=22.56;SB=-1831.14;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 1/1:0,93:93:99:2131,144,0:1.000:99 chr9 134390870 rs11243406 C A 1890.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.389;DP=144;Dels=0.00;FS=1.359;HRun=1;HaplotypeScore=0.8941;MQ=47.54;MQ0=0;MQRankSum=0.701;QD=13.13;ReadPosRankSum=1.939;SB=-917.48;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Missense_D433E,Missense_D411E,Missense_D294E,Missense_D411E,Missense_D357E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,77:144:99:1920,0,1488:0.535:99 chr9 134398463 . C A 23.45 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.396;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=50.50;MQ0=0;MQRankSum=-1.529;QD=1.38;ReadPosRankSum=-0.510;SB=-49.92;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Missense_D738E,Missense_D716E,Missense_D599E,Missense_D716E,Missense_D662E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,4:17:53.42:53,0,377:0.235:23 chr9 134398534 rs3739495 T C 161.61 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.32;SB=-74.56;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 1/1:0,5:5:15.05:194,15,0:1.000:15 chr9 134398719 rs3824395 T C 3554.86 PASS AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7871;MQ=43.81;MQ0=0;QD=22.50;SB=-3033.82;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 1/1:0,158:158:99:3555,241,0:1.000:99 chr9 134398771 rs10793885 T C 1148.81 PASS AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9990;MQ=50.37;MQ0=0;QD=23.45;SB=-934.73;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 1/1:0,49:49:81.27:1182,81,0:1.000:81 chr9 134398778 rs4740259 A G 938.91 PASS AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=50.48;MQ0=0;QD=22.90;SB=-793.93;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 1/1:0,41:41:66.22:972,66,0:1.000:66 chr9 134398841 rs7857419 C T 1490.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.826;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=42.49;MQ0=0;MQRankSum=0.968;QD=12.32;ReadPosRankSum=0.255;SB=-1255.08;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 0/1:45,76:121:99:1521,0,838:0.628:99 chr9 134398946 rs11005 T C 580.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.839;DP=36;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=43.18;MQ0=0;MQRankSum=-0.879;QD=16.12;ReadPosRankSum=1.199;SB=-500.58;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 0/1:7,29:36:99:610,0,118:0.806:99 chr9 136291063 rs3118667 C T 5584.49 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.607;DP=250;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=41.52;MQ0=0;MQRankSum=1.718;QD=22.34;ReadPosRankSum=-0.818;SB=-4743.60;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 1/1:1,249:250:99:5584,360,0:0.996:99 chr9 136304497 rs3124768 A G 3573.39 PASS AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=44.88;MQ0=0;QD=23.20;SB=-2965.93;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 1/1:0,154:154:99:3573,244,0:1.000:99 chr9 136308542 rs3124767 C T 848.47 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=22.93;SB=-715.50;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 1/1:0,37:37:60.20:881,60,0:1.000:60 chr9 136412170 rs2073874 C T 2966.86 PASS AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.05;MQ0=0;QD=23.00;SB=-2476.32;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_D258D,Synonymous_D258D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,129:129:99:3000,205,0:1.000:99 chr9 136412236 rs2073875 A T 3062.63 PASS AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.07;MQ0=0;QD=23.56;SB=-2497.50;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_A280A,Synonymous_A280A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,130:130:99:3096,214,0:1.000:99 chr9 136412255 rs2073876 A C 2832.06 PASS AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=46.03;MQ0=0;QD=24.21;SB=-2147.80;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_R287R,Synonymous_R287R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,116:117:99:2865,199,0:1.000:99 chr9 136412296 rs2073877 C T 1083.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.535;DP=119;Dels=0.00;FS=0.681;HRun=1;HaplotypeScore=2.6548;MQ=43.52;MQ0=0;MQRankSum=-0.942;QD=9.10;ReadPosRankSum=0.430;SB=-890.90;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_I300I,Synonymous_I300I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,54:119:99:1113,0,1414:0.454:99 chr9 136433542 . C T 1007.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.851;DP=98;Dels=0.00;FS=0.759;HRun=0;HaplotypeScore=2.7220;MQ=42.36;MQ0=0;MQRankSum=-3.876;QD=10.28;ReadPosRankSum=-1.627;SB=-820.84;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_P674P,Synonymous_P674P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,52:98:99:1037,0,875:0.531:99 chr9 136434598 rs1064975 A G 2139.45 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.485;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=43.30;MQ0=0;MQRankSum=-0.038;QD=22.06;ReadPosRankSum=1.790;SB=-1815.97;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_V771V,Synonymous_V771V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,95:97:99:2172,109,0:0.979:99 chr9 136438985 rs62637566 G A 1481.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.381;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.2980;MQ=41.90;MQ0=0;MQRankSum=-0.529;QD=9.75;ReadPosRankSum=2.813;SB=-1240.31;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_V871V,Synonymous_V871V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,76:152:99:1512,0,1487:0.500:99 chr9 136440144 rs1105952 G A 1310.83 PASS AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=42.31;MQ0=0;QD=23.00;SB=-1074.20;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,57:57:93.30:1344,93,0:1.000:93 chr10 14974905 rs12768894 T C 982.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.942;DP=104;Dels=0.00;FS=0.729;HRun=0;HaplotypeScore=1.9995;MQ=45.81;MQ0=0;MQRankSum=2.926;QD=9.45;ReadPosRankSum=1.894;SB=-761.93;TI=NM_022487,NM_001033858,NM_001033855,NM_001033857;GI=DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C;FC=Missense_H128R,Missense_H123R,Missense_H243R,Missense_H123R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,48:104:99:1013,0,1110:0.471:99 chr10 14976727 rs35441642 G C 2548.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.373;DP=259;Dels=0.00;FS=0.959;HRun=0;HaplotypeScore=2.6548;MQ=49.76;MQ0=0;MQRankSum=-1.062;QD=9.84;ReadPosRankSum=0.591;SB=-1683.99;TI=NM_022487,NM_001033858,NM_001033855,NM_001033857;GI=DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C;FC=Missense_P56R,Missense_P51R,Missense_P171R,Missense_P51R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:139,120:259:99:2578,0,3012:0.463:99 chr10 27035478 rs12776877 C T 2559.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.263;DP=267;Dels=0.00;FS=2.788;HRun=2;HaplotypeScore=3.6796;MQ=54.83;MQ0=0;MQRankSum=2.308;QD=9.59;ReadPosRankSum=1.622;SB=-1305.89;TI=NM_014317;GI=PDSS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:159,108:267:99:2589,0,3632:0.404:99 chr10 50665928 rs3750751 C T 1288.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.190;DP=121;Dels=0.00;FS=0.689;HRun=0;HaplotypeScore=6.3629;MQ=50.58;MQ0=0;MQRankSum=1.096;QD=10.65;ReadPosRankSum=0.998;SB=-803.94;TI=NM_000124;GI=ERCC6;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,61:121:99:1319,0,1277:0.504:99 chr10 50666482 rs4253234 G C 2387.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.156;DP=200;Dels=0.00;FS=0.521;HRun=0;HaplotypeScore=2.8936;MQ=48.63;MQ0=0;MQRankSum=1.563;QD=11.94;ReadPosRankSum=0.040;SB=-1779.50;TI=NM_000124;GI=ERCC6;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:92,108:200:99:2418,0,2050:0.540:99 chr10 50666628 . CA C 400.95 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.569;DP=135;FS=1.454;HRun=13;HaplotypeScore=244.1080;MQ=56.58;MQ0=0;MQRankSum=0.016;QD=2.97;ReadPosRankSum=0.593;SB=-208.88;TI=NM_000124;GI=ERCC6;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,29:135:99:440,0,1892:0.250:99 chr10 50666808 rs4253231 A G 2936.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.760;DP=279;Dels=0.00;FS=0.912;HRun=0;HaplotypeScore=5.3371;MQ=52.39;MQ0=0;MQRankSum=0.628;QD=10.52;ReadPosRankSum=-0.531;SB=-2128.29;TI=NM_000124;GI=ERCC6;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:146,133:279:99:2966,0,3305:0.477:99 chr10 50681033 rs2229760 G A 1169.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.782;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=49.36;MQ0=0;MQRankSum=1.508;QD=10.17;ReadPosRankSum=0.971;SB=-882.19;TI=NM_000124;GI=ERCC6;FC=Synonymous_G917G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,57:115:99:1199,0,1234:0.496:99 chr10 50740876 rs2228524 G C 4517.30 PASS AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=43.14;MQ0=0;QD=23.17;SB=-3818.61;TI=NM_000124;GI=ERCC6;FC=Synonymous_L45L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,195:195:99:4517,307,0:1.000:99 chr10 64572037 rs11325764 AT A 7349.57 PASS AC=2;AF=1.00;AN=2;DP=230;FS=0.000;HRun=8;HaplotypeScore=79.7422;MQ=47.38;MQ0=0;QD=31.95;SB=-3099.99;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 1/1:11,218:230:99:7350,656,0:0.952:99 chr10 64573771 rs224083 C T 2561.53 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.702;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8640;MQ=44.34;MQ0=0;MQRankSum=-1.519;QD=22.47;ReadPosRankSum=-1.671;SB=-2099.33;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 1/1:1,113:114:99:2595,178,0:0.991:99 chr10 71332204 rs4536103 A G 146.59 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.84;MQ0=0;QD=18.32;SB=-160.67;TI=NM_020999;GI=NEUROG3;FC=Missense_F199S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,8:8:12.04:179,12,0:1.000:12 chr10 72357599 rs71472986 TA T 489.27 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.026;DP=148;FS=1.324;HRun=16;HaplotypeScore=494.8974;MQ=48.80;MQ0=0;MQRankSum=0.274;QD=3.31;ReadPosRankSum=1.406;SB=-251.25;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,31:148:99:528,0,1418:0.265:99 chr10 72357713 rs1889490 C T 1625.13 PASS AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=48.06;MQ0=0;QD=30.10;SB=-389.98;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,52:54:99:1658,126,0:1.000:99 chr10 72357720 rs6480459 G A 1131.41 PASS AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=46.02;MQ0=0;QD=29.77;SB=-237.04;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,38:38:90.26:1164,90,0:1.000:90 chr10 72358577 rs885822 G A 4041.48 PASS AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9891;MQ=45.59;MQ0=0;QD=22.96;SB=-3371.23;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Synonymous_H300H,Synonymous_H300H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,176:176:99:4041,274,0:1.000:99 chr10 73270906 rs3802720 T C 4277.65 PASS AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.18;MQ0=0;QD=23.12;SB=-3490.22;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 1/1:0,185:185:99:4278,292,0:1.000:99 chr10 73377314 rs7903772 C G 585.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.071;DP=49;Dels=0.00;FS=2.430;HRun=0;HaplotypeScore=0.0000;MQ=45.80;MQ0=0;MQRankSum=0.273;QD=11.94;ReadPosRankSum=-2.010;SB=-395.01;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 0/1:21,28:49:99:615,0,395:0.571:99 chr10 73377330 rs6480536 T C 312.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.743;DP=35;Dels=0.00;FS=3.012;HRun=4;HaplotypeScore=0.0000;MQ=46.88;MQ0=0;MQRankSum=-2.360;QD=8.94;ReadPosRankSum=0.512;SB=-301.15;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 0/1:17,18:35:99:343,0,399:0.514:99 chr10 73434888 rs1227049 G C 4760.36 PASS AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=47.37;MQ0=0;QD=23.34;SB=-3836.53;TI=NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23;FC=Missense_G490A,Missense_G490A,Missense_G490A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,202:204:99:4760,325,0:1.000:99 chr10 73455201 rs3752752 T C 1383.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.579;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=41.50;MQ0=0;MQRankSum=0.602;QD=9.35;ReadPosRankSum=-0.403;SB=-1201.33;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 0/1:75,73:148:99:1414,0,1515:0.493:99 chr10 73455273 rs3752751 T C 1064.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.195;DP=122;Dels=0.00;FS=0.676;HRun=0;HaplotypeScore=0.0000;MQ=41.80;MQ0=0;MQRankSum=-0.275;QD=8.72;ReadPosRankSum=-1.056;SB=-870.57;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 0/1:66,56:122:99:1094,0,1346:0.459:99 chr10 73492079 rs1227065 A G 217.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.226;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.71;MQ0=0;MQRankSum=1.576;QD=6.81;ReadPosRankSum=3.017;SB=-193.11;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 0/1:20,12:32:99:248,0,456:0.375:99 chr10 73501556 rs1227051 G A 1414.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.449;DP=99;Dels=0.00;FS=0.844;HRun=0;HaplotypeScore=4.7872;MQ=44.38;MQ0=0;MQRankSum=-0.527;QD=14.28;ReadPosRankSum=-0.165;SB=-1191.97;TI=NM_022124;GI=CDH23;FC=Missense_A1575T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,70:99:99:1444,0,536:0.707:99 chr10 73550969 rs10466026 G A 3973.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.914;DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=44.47;MQ0=0;MQRankSum=0.886;QD=22.57;ReadPosRankSum=-0.035;SB=-3413.16;TI=NM_022124;GI=CDH23;FC=Missense_E2044K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,174:176:99:3973,232,0:0.989:99 chr10 73558128 rs41281334 G A 1575.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.993;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=40.62;MQ0=0;MQRankSum=-1.679;QD=9.91;ReadPosRankSum=3.257;SB=-1315.98;TI=NM_022124,NM_001171934,NM_001171933;GI=CDH23,CDH23,CDH23;FC=Missense_V2283I,Missense_V43I,Missense_V43I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:79,80:159:99:1605,0,1637:0.503:99 chr10 73558886 rs4747194 G A 3727.70 PASS AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.45;MQ0=0;QD=23.15;SB=-2969.84;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 1/1:0,161:161:99:3728,256,0:1.000:99 chr10 73558952 rs4747195 C T 3954.49 PASS AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7782;MQ=44.28;MQ0=0;QD=23.54;SB=-3316.57;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 1/1:0,168:168:99:3954,271,0:1.000:99 chr10 73562744 rs10823849 G A 3517.67 PASS AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=45.83;MQ0=0;QD=23.45;SB=-2944.48;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 1/1:0,150:150:99:3518,241,0:1.000:99 chr10 73574843 rs2290021 G A 227.93 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.755;DP=18;Dels=0.00;FS=2.003;HRun=0;HaplotypeScore=0.9998;MQ=47.29;MQ0=0;MQRankSum=-0.044;QD=12.66;ReadPosRankSum=-3.243;SB=-98.96;TI=NM_022124,NM_001171934,NM_001171933,NM_001171935,NM_001171936;GI=CDH23,CDH23,CDH23,CDH23,CDH23;FC=Synonymous_T3291T,Synonymous_T1016T,Synonymous_T1051T,Synonymous_T188T,Synonymous_T153T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,10:18:99:258,0,171:0.556:99 chr10 73575239 rs2290022 A G 1455.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.037;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7771;MQ=45.76;MQ0=0;MQRankSum=-3.523;QD=9.27;ReadPosRankSum=1.112;SB=-1243.02;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 0/1:80,76:157:99:1486,0,1640:0.487:99 chr10 73575384 rs1867978 A G 555.03 PASS AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.44;MQ0=0;QD=26.43;SB=-357.56;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 1/1:0,21:21:42.14:588,42,0:1.000:42 chr10 73575545 rs1054635 G A 1125.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.292;DP=111;Dels=0.00;FS=1.527;HRun=0;HaplotypeScore=2.8937;MQ=50.70;MQ0=0;MQRankSum=0.145;QD=10.14;ReadPosRankSum=-0.723;SB=-764.27;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 0/1:57,54:111:99:1155,0,1243:0.486:99 chr10 73576307 rs7869 C T 4574.90 PASS AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9933;MQ=42.59;MQ0=0;QD=22.99;SB=-3882.60;TI=NM_002778,NM_001042465,NM_001042466;GI=PSAP,PSAP,PSAP;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,198:199:99:4575,310,0:1.000:99 chr10 73610982 rs2070188 G A 1861.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.377;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5679;MQ=42.09;MQ0=0;MQRankSum=-2.543;QD=9.55;ReadPosRankSum=-1.554;SB=-1535.40;TI=NM_002778,NM_001042465,NM_001042466;GI=PSAP,PSAP,PSAP;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,96:195:99:1892,0,1932:0.495:99 chr10 75009807 . T A 52.25 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DP=9;Dels=0.00;FS=3.332;HRun=5;HaplotypeScore=0.0000;MQ=34.54;MQ0=0;MQRankSum=-2.054;QD=5.81;ReadPosRankSum=-2.054;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,3:9:82.25:82,0,116:0.333:52 chr10 75009809 . C A 52.25 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.683;DP=9;Dels=0.00;FS=3.332;HRun=7;HaplotypeScore=0.8941;MQ=34.54;MQ0=0;MQRankSum=-2.054;QD=5.81;ReadPosRankSum=-2.054;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,3:9:82.25:82,0,116:0.333:52 chr10 75009947 . A C 11.57 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.098;DP=33;Dels=0.00;FS=6.236;HRun=1;HaplotypeScore=0.9987;MQ=43.48;MQ0=0;MQRankSum=-2.599;QD=0.35;ReadPosRankSum=-2.724;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,3:33:41.26:41,0,632:0.091:11 chr10 75009957 . G A 59.22 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.457;DP=36;Dels=0.00;FS=9.259;HRun=1;HaplotypeScore=5.5210;MQ=43.18;MQ0=0;MQRankSum=-3.156;QD=1.64;ReadPosRankSum=-3.339;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,5:36:89.21:89,0,675:0.139:59 chr10 75009963 . G A 32.15 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=3.215;DP=53;Dels=0.00;FS=9.305;HRun=1;HaplotypeScore=10.8880;MQ=42.94;MQ0=0;MQRankSum=-3.659;QD=0.61;ReadPosRankSum=-0.871;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,5:53:62.14:62,0,995:0.098:32 chr10 75009965 . G A 29.14 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.906;DP=53;Dels=0.00;FS=9.398;HRun=1;HaplotypeScore=10.8880;MQ=42.94;MQ0=0;MQRankSum=-3.545;QD=0.55;ReadPosRankSum=-0.624;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,5:53:59.12:59,0,1049:0.094:29 chr10 75009976 . CA C 40.26 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DP=57;FS=2.544;HRun=16;HaplotypeScore=224.1406;MQ=42.75;MQ0=0;MQRankSum=1.559;QD=0.71;ReadPosRankSum=0.066;SB=-20.69;TI=NM_016065;GI=MRPS16;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,12:57:79.29:79,0,638:0.273:40 chr10 75010142 . CA C 39.32 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.528;DP=29;FS=0.000;HRun=17;HaplotypeScore=73.0170;MQ=45.33;MQ0=0;MQRankSum=2.684;QD=1.36;ReadPosRankSum=-0.069;SB=-26.91;TI=NM_016065;GI=MRPS16;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,5:29:78.35:78,0,282:0.192:39 chr10 75012343 rs11538567 C A 937.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.125;DP=84;Dels=0.00;FS=0.827;HRun=0;HaplotypeScore=5.5196;MQ=44.50;MQ0=0;MQRankSum=-1.910;QD=11.16;ReadPosRankSum=-1.029;SB=-740.33;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,46:84:99:967,0,742:0.548:99 chr10 90771829 rs2234978 T C 8587.39 PASS AC=2;AF=1.00;AN=2;DP=339;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1527;MQ=51.02;MQ0=0;QD=25.33;SB=-6344.37;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 1/1:0,339:339:99:8587,599,0:1.000:99 chr10 101469605 rs2300983 G A 3831.76 PASS AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.71;MQ0=0;QD=24.88;SB=-2809.55;TI=NM_020354,NM_004376,NM_078470;GI=ENTPD7,COX15,COX15;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,154:154:99:3832,265,0:1.000:99 chr10 101470858 rs11405417 C CA 2213.07 PASS AC=2;AF=1.00;AN=2;DP=74;FS=0.000;HRun=8;HaplotypeScore=35.6987;MQ=60.08;MQ0=0;QD=29.91;SB=-1112.60;TI=NM_020354,NM_004376,NM_078470;GI=ENTPD7,COX15,COX15;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,73:74:99:2255,219,0:1.000:99 chr10 101471695 rs1128642 C T 246.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.625;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54.92;MQ0=0;MQRankSum=0.189;QD=12.32;ReadPosRankSum=-0.038;SB=-163.51;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,10:20:99:276,0,207:0.500:99 chr10 101473218 rs2231687 A G 4275.98 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.693;DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=48.49;MQ0=0;MQRankSum=1.712;QD=24.30;ReadPosRankSum=-0.315;SB=-3340.41;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Missense_F374L,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,175:176:99:4276,295,0:0.994:99 chr10 101473535 rs7073616 C T 325.08 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.00;MQ0=0;QD=27.09;SB=-186.84;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,12:12:27.09:358,27,0:1.000:27 chr10 101473538 . C G 10.22 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DP=12;Dels=0.00;FS=8.195;HRun=2;HaplotypeScore=0.0000;MQ=45.00;MQ0=0;MQRankSum=-2.256;QD=0.85;ReadPosRankSum=-0.537;SB=-0.01;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,2:12:39.78:40,0,264:0.167:10 chr10 101473542 . T C 15.92 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.762;DP=9;Dels=0.00;FS=7.782;HRun=0;HaplotypeScore=0.0000;MQ=44.67;MQ0=0;MQRankSum=-1.666;QD=1.77;ReadPosRankSum=-0.067;SB=-0.01;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:45.80:46,0,190:0.222:15 chr10 101473543 . G A 15.92 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.762;DP=9;Dels=0.00;FS=7.782;HRun=0;HaplotypeScore=0.0000;MQ=44.67;MQ0=0;MQRankSum=-1.666;QD=1.77;ReadPosRankSum=-0.067;SB=-0.01;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:45.80:46,0,190:0.222:15 chr10 101473544 . T A 15.92 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.762;DP=9;Dels=0.00;FS=7.782;HRun=0;HaplotypeScore=0.0000;MQ=44.67;MQ0=0;MQRankSum=-1.666;QD=1.77;ReadPosRankSum=0.067;SB=-0.01;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:45.80:46,0,190:0.222:15 chr10 101473553 . C T 15.94 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DP=8;Dels=0.00;FS=8.451;HRun=0;HaplotypeScore=1.8332;MQ=44.81;MQ0=0;MQRankSum=-1.589;QD=1.99;ReadPosRankSum=0.000;SB=-0.01;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:45.82:46,0,169:0.250:15 chr10 101473555 . C T 18.87 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DP=8;Dels=0.00;FS=8.451;HRun=2;HaplotypeScore=3.7662;MQ=44.81;MQ0=0;MQRankSum=-1.067;QD=2.36;ReadPosRankSum=0.000;SB=-0.00;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:48.81:49,0,146:0.250:18 chr10 101473556 . T G 14.20 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DP=8;Dels=0.00;FS=8.451;HRun=0;HaplotypeScore=4.7327;MQ=44.81;MQ0=0;MQRankSum=-1.589;QD=1.78;ReadPosRankSum=0.000;SB=-0.00;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:44.03:44,0,146:0.250:14 chr10 101473563 . C A 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=5.6268;MQ=42.19;MQ0=0;MQRankSum=-0.922;QD=2.70;ReadPosRankSum=-0.922;SB=-0.01;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:48.81:49,0,141:0.286:18 chr10 101473570 . T A 18.89 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DP=7;Dels=0.00;FS=3.680;HRun=5;HaplotypeScore=4.7601;MQ=42.19;MQ0=0;MQRankSum=-1.495;QD=2.70;ReadPosRankSum=-0.922;SB=-0.01;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:48.83:49,0,133:0.286:18 chr10 101473572 . C A 18.89 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DP=7;Dels=0.00;FS=3.680;HRun=4;HaplotypeScore=3.7936;MQ=42.19;MQ0=0;MQRankSum=-1.495;QD=2.70;ReadPosRankSum=-0.922;SB=-0.01;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:48.83:49,0,133:0.286:18 chr10 101473872 . CT C 188.61 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.199;DP=114;FS=3.673;HRun=12;HaplotypeScore=142.9280;MQ=56.49;MQ0=0;MQRankSum=2.627;QD=1.65;ReadPosRankSum=0.235;SB=-70.87;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,19:114:99:228,0,1818:0.200:99 chr10 101492192 . C T 10.43 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=37.00;MQ0=0;QD=10.43;SB=-0.01;TI=NM_004376,NM_078470,NM_015960;GI=COX15,COX15,CUTC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:40,3,0:1.000:3 chr10 101492241 rs2231675 G A 76.42 LowGQ;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.16;MQ0=0;MQRankSum=0.727;QD=19.10;ReadPosRankSum=0.727;SB=-40.01;TI=NM_004376,NM_078470,NM_015960;GI=COX15,COX15,CUTC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,3:4:28.61:106,0,29:0.750:28 chr10 101492403 rs2281636 T G 933.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.253;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.16;MQ0=0;MQRankSum=-0.660;QD=9.72;ReadPosRankSum=0.579;SB=-758.89;TI=NM_004376,NM_078470,NM_015960;GI=COX15,COX15,CUTC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,49:96:99:963,0,920:0.510:99 chr10 102747363 rs3740484 G T 1416.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.150;DP=180;Dels=0.00;FS=1.921;HRun=0;HaplotypeScore=6.0454;MQ=47.29;MQ0=0;MQRankSum=-4.469;QD=7.87;ReadPosRankSum=-0.413;SB=-979.40;TI=NM_001163812,NM_021830,NM_001163813,NM_001163814;GI=C10orf2,C10orf2,C10orf2,C10orf2;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:103,76:180:99:1446,0,2205:0.425:99 chr10 102750783 rs3740487 C A 1378.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.902;DP=169;Dels=0.00;FS=0.577;HRun=0;HaplotypeScore=5.5756;MQ=46.13;MQ0=0;MQRankSum=-1.691;QD=8.15;ReadPosRankSum=0.536;SB=-940.26;TI=NM_001163812,NM_021830,NM_001163813,NM_001163814;GI=C10orf2,C10orf2,C10orf2,C10orf2;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,70:169:99:1408,0,2094:0.417:99 chr10 102754033 rs3740488 A T 412.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.315;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9849;MQ=49.95;MQ0=0;MQRankSum=0.513;QD=11.79;ReadPosRankSum=0.017;SB=-238.03;TI=NM_001163812,NM_021830,NM_001163813,NM_001163814;GI=C10orf2,C10orf2,C10orf2,C10orf2;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,19:35:99:443,0,397:0.543:99 chr10 105796819 rs2476958 A G 2788.62 PASS AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=45.12;MQ0=0;QD=24.68;SB=-2115.57;TI=NM_000494;GI=COL17A1;FC=Synonymous_I1087I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,113:113:99:2822,196,0:1.000:99 chr10 105798872 rs2274100 T C 8615.70 PASS AC=2;AF=1.00;AN=2;DP=357;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.5461;MQ=47.81;MQ0=0;QD=24.13;SB=-6976.73;TI=NM_000494;GI=COL17A1;FC=Synonymous_P968P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,356:357:99:8616,593,0:1.000:99 chr10 105799216 rs2296219 G T 6365.24 PASS AC=2;AF=1.00;AN=2;DP=275;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.5758;MQ=44.11;MQ0=0;QD=23.15;SB=-5208.97;TI=NM_000494;GI=COL17A1;FC=Synonymous_P961P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,275:275:99:6365,433,0:1.000:99 chr10 105801253 rs4918079 G A 4623.91 PASS AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8584;MQ=46.98;MQ0=0;QD=23.47;SB=-3796.41;TI=NM_000494;GI=COL17A1;FC=Synonymous_R865R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,197:197:99:4624,316,0:1.000:99 chr10 105810400 rs805722 T C 3874.01 PASS AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5756;MQ=48.22;MQ0=0;QD=24.06;SB=-2767.61;TI=NM_000494;GI=COL17A1;FC=Missense_M703V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,159:161:99:3874,268,0:1.000:99 chr10 105816916 rs805698 C T 8929.56 PASS AC=2;AF=1.00;AN=2;DP=373;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4702;MQ=46.71;MQ0=0;QD=23.94;SB=-7181.08;TI=NM_000494;GI=COL17A1;FC=Missense_G428S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,373:373:99:8930,617,0:1.000:99 chr10 105819956 rs805701 G A 2495.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.100;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=45.31;MQ0=0;MQRankSum=0.446;QD=22.08;ReadPosRankSum=2.058;SB=-2091.18;TI=NM_000494;GI=COL17A1;FC=Synonymous_A354A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,111:113:99:2528,133,0:0.982:99 chr10 105824333 rs805708 G A 1785.43 PASS AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8773;MQ=41.38;MQ0=0;QD=22.89;SB=-1520.58;TI=NM_000494;GI=COL17A1;FC=Missense_T210M;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,78:78:99:1818,123,0:1.000:99 chr10 127511756 rs4256900 C T 99.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.526;DP=27;Dels=0.00;FS=1.799;HRun=0;HaplotypeScore=1.6643;MQ=44.13;MQ0=0;MQRankSum=-0.692;QD=3.69;ReadPosRankSum=0.581;SB=-65.59;TI=NM_000375;GI=UROS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,7:27:99:130,0,432:0.259:99 chr10 127511790 rs4385801 G T 153.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.228;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.61;MQ0=0;MQRankSum=2.279;QD=7.69;ReadPosRankSum=-0.608;SB=-118.19;TI=NM_000375;GI=UROS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,9:20:99:184,0,229:0.450:99 chr11 791462 rs4963153 G A 1145.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.364;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=40.82;MQ0=0;MQRankSum=0.693;QD=10.91;ReadPosRankSum=-2.787;SB=-960.78;TI=NM_024698,NM_001191060,NM_001191061;GI=SLC25A22,SLC25A22,SLC25A22;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,58:105:99:1175,0,870:0.552:99 chr11 2188238 rs6357 C T 519.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.268;DP=46;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=41.33;MQ0=0;MQRankSum=-1.026;QD=11.30;ReadPosRankSum=-0.290;SB=-455.15;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 0/1:19,27:46:99:550,0,371:0.587:99 chr11 2190951 rs6356 C T 547.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.595;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=46.86;MQ0=0;MQRankSum=0.201;QD=6.16;ReadPosRankSum=1.210;SB=-492.42;TI=NM_199292,NM_199293,NM_000360;GI=TH,TH,TH;FC=Missense_V112M,Missense_V108M,Missense_V81M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,32:89:99:578,0,1189:0.360:99 chr11 3877113 . CTCTCT C 6792.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.642;DP=234;FS=1.016;HRun=0;HaplotypeScore=98.2333;MQ=47.60;MQ0=0;MQRankSum=3.585;QD=29.03;ReadPosRankSum=2.555;SB=-3338.97;TI=NM_003156;GI=STIM1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:130,104:234:99:6792,0,8163:0.444:99 chr11 4103524 rs2304891 A G 749.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.099;DP=100;Dels=0.00;FS=1.649;HRun=0;HaplotypeScore=1.7882;MQ=47.73;MQ0=0;MQRankSum=-2.517;QD=7.50;ReadPosRankSum=-0.906;SB=-577.51;TI=NM_003156;GI=STIM1;FC=Synonymous_Q360Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,39:100:99:780,0,1342:0.394:99 chr11 4113395 rs1561876 G A 193.26 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.721;DP=18;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=0.0000;MQ=55.72;MQ0=0;MQRankSum=-0.815;QD=10.74;ReadPosRankSum=-0.181;SB=-183.26;TI=NM_003156;GI=STIM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,11:18:99:223,0,160:0.611:99 chr11 4113470 rs3750994 T G 389.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.460;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=43.43;MQ0=0;MQRankSum=-2.324;QD=5.64;ReadPosRankSum=0.939;SB=-304.39;TI=NM_003156;GI=STIM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,24:69:99:419,0,944:0.348:99 chr11 5248243 rs713040 A G 821.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.172;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7870;MQ=46.88;MQ0=0;MQRankSum=-0.393;QD=7.82;ReadPosRankSum=-0.964;SB=-643.97;TI=NM_000518;GI=HBB;FC=Synonymous_H3H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,44:105:99:851,0,1247:0.419:99 chr11 6411935 rs1050228 T C 104.64 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.902;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.5981;MQ=41.37;MQ0=0;MQRankSum=-1.721;QD=5.81;ReadPosRankSum=-0.725;SB=-92.94;TI=NM_000543,NM_001007593;GI=SMPD1,SMPD1;FC=Missense_V36A,Missense_V36A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,7:18:99:135,0,265:0.389:99 chr11 6413366 rs72896268 C T 274.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.173;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.91;MQ0=0;MQRankSum=-0.436;QD=5.38;ReadPosRankSum=1.857;SB=-237.64;TI=NM_000543,NM_001007593;GI=SMPD1,SMPD1;FC=Synonymous_A357A,Synonymous_A356A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,16:51:99:304,0,719:0.314:99 chr11 6634149 rs7488 C T 383.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.403;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.76;MQ0=0;MQRankSum=2.159;QD=8.72;ReadPosRankSum=-0.110;SB=-223.22;TI=NM_000391;GI=TPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,16:44:99:413,0,646:0.364:99 chr11 6634189 rs7487 G A 461.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.924;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.48;MQ0=0;MQRankSum=2.273;QD=7.45;ReadPosRankSum=2.536;SB=-350.78;TI=NM_000391;GI=TPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,23:62:99:492,0,869:0.371:99 chr11 6638385 rs56144125 C T 354.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.061;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7861;MQ=39.60;MQ0=0;MQRankSum=-1.181;QD=6.34;ReadPosRankSum=-1.478;SB=-269.85;TI=NM_000391;GI=TPP1;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 0/1:35,20:56:99:385,0,692:0.364:99 chr11 17418477 rs757110 C A 886.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.263;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=42.71;MQ0=0;MQRankSum=-0.270;QD=9.05;ReadPosRankSum=-0.156;SB=-769.71;TI=NM_000352;GI=ABCC8;FC=Missense_A1369S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,47:98:99:917,0,1043:0.480:99 chr11 17419279 rs1799859 C T 1173.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.174;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6538;MQ=40.44;MQ0=0;MQRankSum=-2.055;QD=8.76;ReadPosRankSum=-0.585;SB=-959.75;TI=NM_000352;GI=ABCC8;FC=Synonymous_R1273R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,61:134:99:1203,0,1467:0.455:99 chr11 17449929 rs1799858 C T 1656.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.448;DP=140;Dels=0.00;FS=0.633;HRun=2;HaplotypeScore=4.6380;MQ=44.93;MQ0=0;MQRankSum=-0.886;QD=11.83;ReadPosRankSum=1.236;SB=-1323.28;TI=NM_000352;GI=ABCC8;FC=Synonymous_K649K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,80:140:99:1686,0,1172:0.571:99 chr11 17452492 rs1799857 G A 2237.25 PASS AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.04;MQ0=0;QD=22.60;SB=-1949.24;TI=NM_000352;GI=ABCC8;FC=Synonymous_H562H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,99:99:99:2270,154,0:1.000:99 chr11 17515459 rs10649542 C CTGTT 4127.20 PASS AC=2;AF=1.00;AN=2;DP=57;FS=0.000;HRun=0;HaplotypeScore=19.1700;MQ=55.68;MQ0=0;QD=72.41;SB=-1738.09;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,57:57:99:4127,172,0:1.000:99 chr11 17515668 rs1055581 T C 1645.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.807;DP=216;Dels=0.00;FS=0.511;HRun=0;HaplotypeScore=3.7773;MQ=46.54;MQ0=0;MQRankSum=-3.066;QD=7.62;ReadPosRankSum=-0.812;SB=-1320.95;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:127,89:216:99:1675,0,2588:0.412:99 chr11 17515693 rs1055577 G A 1343.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.233;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5713;MQ=47.31;MQ0=0;MQRankSum=-0.480;QD=7.68;ReadPosRankSum=1.226;SB=-1043.11;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:105,70:175:99:1374,0,2206:0.400:99 chr11 17515833 rs1055574 A G 980.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.306;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8661;MQ=47.28;MQ0=0;MQRankSum=-1.183;QD=11.54;ReadPosRankSum=-1.564;SB=-741.61;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,48:85:99:1011,0,707:0.565:99 chr11 17519742 rs1064074 C G 1044.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.367;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5210;MQ=46.69;MQ0=0;MQRankSum=-0.809;QD=9.50;ReadPosRankSum=-0.130;SB=-888.16;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Missense_E819D,Missense_E519D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,55:110:99:1075,0,1109:0.505:99 chr11 17522638 rs10832796 G A 588.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.393;DP=75;Dels=0.00;FS=1.909;HRun=1;HaplotypeScore=0.8941;MQ=47.79;MQ0=0;MQRankSum=-1.404;QD=7.84;ReadPosRankSum=1.770;SB=-477.67;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Synonymous_V780V,Synonymous_V480V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,31:75:99:618,0,933:0.413:99 chr11 34937697 rs2016814 T C 1907.35 PASS AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=48.30;MQ0=0;QD=23.55;SB=-1482.29;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 1/1:0,81:81:99:1940,132,0:1.000:99 chr11 34937813 rs2956114 G A 3733.11 PASS AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4996;MQ=45.04;MQ0=0;QD=24.72;SB=-2637.95;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 1/1:0,151:151:99:3733,259,0:1.000:99 chr11 34937884 rs2956113 G A 688.98 PASS AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.64;MQ0=0;QD=24.61;SB=-408.84;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 1/1:0,27:28:51.17:722,51,0:1.000:51 chr11 34937901 rs2956112;rs11549076 A G 325.26 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.71;MQ0=0;QD=25.02;SB=-211.63;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 1/1:0,13:13:27.08:358,27,0:1.000:27 chr11 34937931 rs2956111 G A 197.28 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.04;MQ0=0;QD=32.88;SB=-33.31;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 1/1:0,6:6:18.06:230,18,0:1.000:18 chr11 34938115 rs2956110 C A 1347.16 PASS AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=46.24;MQ0=0;QD=26.94;SB=-760.12;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,50:50:99:1380,105,0:1.000:99 chr11 34938265 rs2956109 C T 2701.39 PASS AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=46.17;MQ0=0;QD=23.09;SB=-2251.16;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 1/1:0,117:117:99:2734,187,0:1.000:99 chr11 34991727 rs497582 T C 11578.90 PASS AC=2;AF=1.00;AN=2;DP=401;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8671;MQ=51.66;MQ0=0;QD=28.88;SB=-5428.73;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 1/1:0,401:401:99:11579,825,0:1.000:99 chr11 35017205 rs9326 G T 845.90 PASS AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.29;MQ0=0;QD=23.50;SB=-719.84;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,36:36:60.20:879,60,0:1.000:60 chr11 35017363 rs7808 C A 2890.93 PASS AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=49.55;MQ0=0;QD=25.58;SB=-1799.03;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,113:113:99:2924,205,0:1.000:99 chr11 36595600 rs3740955 A G 2102.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.212;DP=202;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=48.01;MQ0=0;MQRankSum=-1.152;QD=10.41;ReadPosRankSum=1.881;SB=-1685.91;TI=NM_000448;GI=RAG1;FC=Missense_H249R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:100,102:202:99:2133,0,1972:0.505:99 chr11 36601096 . CT C 215.49 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.370;DP=118;FS=0.000;HRun=12;HaplotypeScore=249.4810;MQ=52.98;MQ0=0;MQRankSum=1.622;QD=1.83;ReadPosRankSum=1.419;SB=-85.31;TI=NM_000448;GI=RAG1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,18:118:99:255,0,1850:0.173:99 chr11 36601170 rs1056403 G A 1166.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.108;DP=68;Dels=0.00;FS=2.080;HRun=0;HaplotypeScore=5.6396;MQ=53.64;MQ0=0;MQRankSum=1.968;QD=17.15;ReadPosRankSum=-0.943;SB=-542.18;TI=NM_000448;GI=RAG1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,38:68:99:1196,0,856:0.567:99 chr11 36613807 rs10836573 T C 1722.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.229;DP=154;Dels=0.00;FS=8.416;HRun=0;HaplotypeScore=4.8932;MQ=51.53;MQ0=0;MQRankSum=0.841;QD=11.18;ReadPosRankSum=-0.138;SB=-876.68;TI=NM_000536;GI=RAG2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,71:154:99:1752,0,1885:0.461:99 chr11 45826890 . G C 13.80 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.350;DP=20;Dels=0.05;FS=18.325;HRun=4;HaplotypeScore=25.1082;MQ=33.64;MQ0=0;MQRankSum=-1.750;QD=0.69;ReadPosRankSum=-2.350;SB=-0.01;TI=NM_001145266,NM_001145265,NM_018389;GI=SLC35C1,SLC35C1,SLC35C1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,4:19:43.61:44,0,419:0.211:13 chr11 45832935 rs1139266 G A 54.17 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.84;MQ0=0;QD=13.54;SB=-40.01;TI=NM_001145266,NM_001145265,NM_018389;GI=SLC35C1,SLC35C1,SLC35C1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,4:4:6.02:85,6,0:1.000:6 chr11 45833960 rs4756026 C T 412.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.910;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=44.55;MQ0=0;MQRankSum=-1.097;QD=7.12;ReadPosRankSum=-0.588;SB=-354.87;TI=NM_001145266,NM_001145265,NM_018389;GI=SLC35C1,SLC35C1,SLC35C1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,23:58:99:443,0,702:0.397:99 chr11 45834044 rs4756027 C T 1131.01 PASS AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.38;MQ0=0;QD=21.75;SB=-1028.52;TI=NM_001145266,NM_001145265,NM_018389;GI=SLC35C1,SLC35C1,SLC35C1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,52:52:78.26:1164,78,0:1.000:78 chr11 47238522 rs326212 T C 3764.56 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.710;DP=158;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4324;MQ=46.47;MQ0=0;MQRankSum=-0.155;QD=23.83;ReadPosRankSum=-0.511;SB=-3020.56;TI=NM_000107;GI=DDB2;FC=Synonymous_T126T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,155:158:99:3765,259,0:0.994:99 chr11 47460306 rs7126210 A G 1706.14 PASS AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.9934;MQ=41.66;MQ0=0;QD=23.37;SB=-1373.62;TI=NM_005055,NM_032645;GI=RAPSN,RAPSN;FC=Synonymous_P381P,Synonymous_P322P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,72:73:99:1739,120,0:1.000:99 chr11 47469439 rs7111873 A G 1611.66 PASS AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.94;MQ0=0;QD=22.38;SB=-1366.13;TI=NM_005055,NM_032645;GI=RAPSN,RAPSN;FC=Synonymous_Y152Y,Synonymous_Y152Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,72:72:99:1645,111,0:1.000:99 chr11 47470355 rs72905825 C T 141.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.581;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=47.35;MQ0=0;MQRankSum=-0.807;QD=6.15;ReadPosRankSum=0.161;SB=-88.44;TI=NM_005055,NM_032645;GI=RAPSN,RAPSN;FC=Synonymous_S54S,Synonymous_S54S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,8:23:99:171,0,344:0.348:99 chr11 63990996 rs34304595 AC A 174.97 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.365;DP=10;FS=0.000;HRun=3;HaplotypeScore=4.2011;MQ=47.55;MQ0=0;MQRankSum=-0.365;QD=17.50;ReadPosRankSum=1.866;SB=-72.33;TI=NM_178443,NM_031471;GI=FERMT3,FERMT3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,6:10:99:214,0,133:0.600:99 chr11 65485157 rs4645934 G A 2071.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.314;DP=194;Dels=0.00;FS=1.110;HRun=1;HaplotypeScore=3.7802;MQ=47.36;MQ0=0;MQRankSum=-0.680;QD=10.68;ReadPosRankSum=0.778;SB=-1803.48;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 0/1:89,105:194:99:2101,0,1780:0.541:99 chr11 65485727 rs521678 T G 219.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.102;DP=40;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=48.71;MQ0=0;MQRankSum=-0.249;QD=5.48;ReadPosRankSum=-1.156;SB=-187.79;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 0/1:25,14:40:99:249,0,515:0.359:99 chr11 65636053 rs601314 T C 489.96 PASS AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.94;MQ0=0;QD=20.41;SB=-433.70;TI=NM_016938;GI=EFEMP2;FC=Missense_I259V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,24:24:36.12:523,36,0:1.000:36 chr11 65640204 rs2303384 C T 913.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.381;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.4026;MQ=41.75;MQ0=0;MQRankSum=0.353;QD=11.14;ReadPosRankSum=2.828;SB=-722.42;TI=NM_016938;GI=EFEMP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,48:82:99:944,0,666:0.585:99 chr11 67758771 rs10896285 G T 138.34 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.06;SB=-72.51;TI=NM_030930;GI=UNC93B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,6:6:12.04:171,12,0:1.000:12 chr11 67759043 rs2375182 C A 260.07 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.189;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=34.51;MQ0=0;MQRankSum=-0.441;QD=14.45;ReadPosRankSum=-0.189;SB=-169.07;TI=NM_030930;GI=UNC93B1;FC=Missense_R589S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,14:18:41.09:290,0,41:0.824:41 chr11 67759316 rs4014596 C T 30.12 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=0.359;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=32.64;MQ0=7;MQRankSum=-1.418;QD=0.55;ReadPosRankSum=1.418;SB=-10.98;TI=NM_030930;GI=UNC93B1;FC=Synonymous_R498R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,10:55:60.11:60,0,813:0.182:30 chr11 67763224 rs12660 G A 2471.21 PASS AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.15;MQ0=26;QD=18.58;SB=-1885.40;TI=NM_030930;GI=UNC93B1;FC=Missense_P407L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,133:133:99:2504,172,0:1.000:99 chr11 67763353 . G A 442.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.130;DP=100;Dels=0.00;FS=4.314;HRun=1;HaplotypeScore=2.6548;MQ=38.28;MQ0=1;MQRankSum=-2.495;QD=4.43;ReadPosRankSum=-1.434;SB=-248.90;TI=NM_030930;GI=UNC93B1;FC=Missense_A364V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,28:100:99:473,0,1504:0.280:99 chr11 67765163 rs5792426 A AG 1654.40 PASS AC=2;AF=1.00;AN=2;DP=44;FS=0.000;HRun=1;HaplotypeScore=68.0746;MQ=58.79;MQ0=0;QD=37.60;SB=-847.64;TI=NM_030930;GI=UNC93B1;FC=Frameshift;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,40:44:99:1696,120,0:0.952:99 chr11 67814979 rs2471829 G C 845.90 PASS AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.29;MQ0=0;QD=23.50;SB=-717.87;TI=NM_006019,NM_006053;GI=TCIRG1,TCIRG1;FC=Synonymous_L415L,Synonymous_L199L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,36:36:60.20:879,60,0:1.000:60 chr11 68523910 rs2278908 T C 175.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.594;DP=26;Dels=0.00;FS=1.697;HRun=1;HaplotypeScore=0.9894;MQ=47.88;MQ0=0;MQRankSum=-0.991;QD=6.74;ReadPosRankSum=-0.878;SB=-86.92;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,9:26:99:205,0,383:0.360:99 chr11 68524053 rs2278907 G A 196.64 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.122;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8561;MQ=46.44;MQ0=0;MQRankSum=-0.342;QD=11.57;ReadPosRankSum=2.001;SB=-139.60;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,10:17:99:227,0,153:0.588:99 chr11 68549340 rs2228502 A G 5667.33 PASS AC=2;AF=1.00;AN=2;DP=244;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5707;MQ=47.27;MQ0=0;QD=23.23;SB=-4785.89;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Synonymous_F417F,Synonymous_F417F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,244:244:99:5667,385,0:1.000:99 chr11 68671419 rs4930624 C T 2184.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.390;DP=185;Dels=0.00;FS=0.546;HRun=0;HaplotypeScore=5.0548;MQ=48.78;MQ0=0;MQRankSum=-0.722;QD=11.81;ReadPosRankSum=-2.016;SB=-1702.88;TI=NM_002180;GI=IGHMBP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,105:185:99:2214,0,1654:0.568:99 chr11 68671477 rs1249463 T C 5563.66 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.717;DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.6586;MQ=46.80;MQ0=0;MQRankSum=-0.405;QD=23.68;ReadPosRankSum=0.170;SB=-4430.36;TI=NM_002180;GI=IGHMBP2;FC=Synonymous_L19L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,234:235:99:5564,382,0:0.996:99 chr11 68678962 rs560096 T C 2956.01 PASS AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8492;MQ=43.53;MQ0=0;QD=22.91;SB=-2510.83;TI=NM_002180;GI=IGHMBP2;FC=Missense_L201S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,129:129:99:2989,205,0:1.000:99 chr11 68682402 rs10896380 A G 965.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.751;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.84;MQ0=0;MQRankSum=0.424;QD=9.85;ReadPosRankSum=0.644;SB=-858.19;TI=NM_002180;GI=IGHMBP2;FC=Missense_I275V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,52:98:99:995,0,909:0.531:99 chr11 68701948 rs11228413 C T 1844.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.343;DP=224;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=44.90;MQ0=0;MQRankSum=-1.517;QD=8.23;ReadPosRankSum=-0.385;SB=-1578.81;TI=NM_002180;GI=IGHMBP2;FC=Synonymous_V518V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:127,97:224:99:1875,0,2547:0.433:99 chr11 68705674 rs17612126 C A 1560.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.874;DP=162;Dels=0.00;FS=1.981;HRun=1;HaplotypeScore=4.5658;MQ=44.68;MQ0=0;MQRankSum=-0.091;QD=9.63;ReadPosRankSum=0.030;SB=-1110.30;TI=NM_002180;GI=IGHMBP2;FC=Missense_T879K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,75:162:99:1590,0,1768:0.463:99 chr11 68707454 rs564244 T C 316.94 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.42;MQ0=0;QD=22.64;SB=-237.66;TI=NM_002180;GI=IGHMBP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,14:14:24.08:350,24,0:1.000:24 chr11 68707626 rs3750980 C T 517.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.355;DP=66;Dels=0.00;FS=0.937;HRun=0;HaplotypeScore=1.8874;MQ=45.13;MQ0=0;MQRankSum=-2.991;QD=7.84;ReadPosRankSum=-0.474;SB=-428.06;TI=NM_002180;GI=IGHMBP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,28:66:99:548,0,799:0.424:99 chr11 71145687 rs7690 T C 1700.65 PASS AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.61;MQ0=0;QD=22.68;SB=-1441.16;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,75:75:99:1734,117,0:1.000:99 chr11 71145778 rs1044535 G A 386.47 LowDP AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.96;MQ0=0;QD=25.76;SB=-276.16;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,15:15:30.10:419,30,0:1.000:30 chr11 71146577 rs909217 G A 365.82 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.98;MQ0=0;QD=21.52;SB=-313.87;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_G424G,Synonymous_G424G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,17:17:27.09:399,27,0:1.000:27 chr11 71146691 rs760241 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=60.00;MQ0=0;QD=7.46;SB=-39.32;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_D386D,Synonymous_D386D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr11 71146837 rs72954276 C T 89.27 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=2.383;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.61;MQ0=0;MQRankSum=0.365;QD=8.93;ReadPosRankSum=0.741;SB=-105.62;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Missense_V338M,Missense_V338M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,6:10:74.49:119,0,74:0.600:74 chr11 71152461 rs949177 A G 2554.38 PASS AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8499;MQ=45.24;MQ0=0;QD=23.22;SB=-2032.78;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_N146N,Synonymous_N146N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,110:110:99:2587,178,0:1.000:99 chr11 71155153 rs1790334 A G 1637.39 PASS AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=46.54;MQ0=0;QD=23.39;SB=-1347.33;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_T69T,Synonymous_T69T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,70:70:99:1670,114,0:1.000:99 chr11 71155171 rs1044482 C T 2077.06 PASS AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=44.79;MQ0=0;QD=22.82;SB=-1747.07;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_Q63Q,Synonymous_Q63Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,91:91:99:2110,144,0:1.000:99 chr11 71159429 rs4944946 G A 2268.08 PASS AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6543;MQ=46.56;MQ0=0;QD=23.87;SB=-1703.07;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,95:95:99:2301,160,0:1.000:99 chr11 71900964 rs2071010 G A 1524.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.708;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7874;MQ=46.36;MQ0=0;MQRankSum=-0.685;QD=9.41;ReadPosRankSum=1.373;SB=-1286.53;TI=NM_016724,NM_016725,NM_000802;GI=FOLR1,FOLR1,FOLR1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,78:162:99:1554,0,1707:0.481:99 chr11 76853783 rs1052030 T C 436.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.244;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.55;MQ0=0;MQRankSum=0.268;QD=15.07;ReadPosRankSum=-1.000;SB=-325.22;TI=NM_001127179,NM_000260,NM_001127180;GI=MYO7A,MYO7A,MYO7A;FC=Missense_L16S,Missense_L16S,Missense_L16S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,21:29:99:467,0,164:0.724:99 chr11 76910766 rs7927472 C T 2516.97 PASS AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=44.19;MQ0=0;QD=23.52;SB=-2076.83;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Synonymous_S1585S,Synonymous_S1547S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,107:107:99:2550,175,0:1.000:99 chr11 76912636 rs2276288 A T 1637.66 PASS AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=41.57;MQ0=0;QD=23.07;SB=-1283.91;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Missense_S1666C,Missense_S1628C;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,71:71:99:1671,114,0:1.000:99 chr11 76917220 rs2276293 A G 952.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.943;DP=115;Dels=0.00;FS=0.702;HRun=1;HaplotypeScore=4.5711;MQ=43.95;MQ0=0;MQRankSum=-2.435;QD=8.28;ReadPosRankSum=0.481;SB=-819.16;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Synonymous_K1905K,Synonymous_K1867K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,51:115:99:982,0,1277:0.443:99 chr11 76919478 rs948962 C A 850.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.523;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=44.72;MQ0=0;MQRankSum=1.748;QD=6.17;ReadPosRankSum=3.069;SB=-711.01;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Missense_L1954I,Missense_L1916I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,47:138:99:881,0,1893:0.341:99 chr11 77811990 rs1263505 T C 1314.36 PASS AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9330;MQ=44.24;MQ0=0;QD=23.47;SB=-1036.82;TI=NM_024079,NM_001007027;GI=ALG8,ALG8;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:56:93.31:1347,93,0:1.000:93 chr11 77825320 rs665278 T C 1137.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.970;DP=122;Dels=0.00;FS=1.430;HRun=0;HaplotypeScore=0.8941;MQ=45.83;MQ0=0;MQRankSum=-1.124;QD=9.32;ReadPosRankSum=0.621;SB=-857.74;TI=NM_024079,NM_001007027;GI=ALG8,ALG8;FC=Missense_N222S,Missense_N222S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,57:122:99:1167,0,1347:0.467:99 chr11 103029516 rs688906 A G 5787.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.400;DP=432;Dels=0.00;FS=3.224;HRun=0;HaplotypeScore=7.6645;MQ=55.21;MQ0=0;MQRankSum=0.970;QD=13.40;ReadPosRankSum=-1.437;SB=-2262.55;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Missense_K1413R,Missense_K1413R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:215,217:432:99:5787,0,5591:0.502:99 chr11 103036743 rs72989738 C G 2198.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.845;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=50.36;MQ0=0;MQRankSum=-1.226;QD=10.27;ReadPosRankSum=2.998;SB=-1513.20;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Missense_N1576K,Missense_N1576K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:111,103:214:99:2229,0,2577:0.481:99 chr11 103047007 rs585692 C A 7228.56 PASS AC=2;AF=1.00;AN=2;DP=281;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9330;MQ=50.97;MQ0=0;QD=25.72;SB=-5386.57;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_T1906T,Synonymous_T1906T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,281:281:99:7229,503,0:1.000:99 chr11 103057048 rs658804 A G 2584.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.913;DP=237;Dels=0.00;FS=0.997;HRun=1;HaplotypeScore=5.8555;MQ=47.65;MQ0=0;MQRankSum=-0.757;QD=10.91;ReadPosRankSum=-1.309;SB=-2024.72;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_R2237R,Synonymous_R2237R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:111,126:237:99:2614,0,2367:0.532:99 chr11 103058126 rs586592 C T 1938.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.226;DP=157;Dels=0.00;FS=1.260;HRun=1;HaplotypeScore=1.8835;MQ=45.56;MQ0=0;MQRankSum=-0.436;QD=12.35;ReadPosRankSum=1.829;SB=-1264.48;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_H2317H,Synonymous_H2317H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,86:157:99:1969,0,1499:0.548:99 chr11 103082590 rs589623 G A 6402.68 PASS AC=2;AF=1.00;AN=2;DP=230;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7774;MQ=48.74;MQ0=0;QD=27.84;SB=-4551.48;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Missense_R2871Q,Missense_R2871Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,230:230:99:6403,455,0:1.000:99 chr11 103229027 rs2566913 T C 14280.39 PASS AC=2;AF=1.00;AN=2;DP=528;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4598;MQ=53.54;MQ0=0;QD=27.05;SB=-9650.05;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_D4039D,Synonymous_D4032D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,528:528:99:14280,1008,0:1.000:99 chr11 108093833 rs189037 G A 1653.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.013;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4586;MQ=43.43;MQ0=0;MQRankSum=-2.785;QD=9.34;ReadPosRankSum=-1.687;SB=-1413.50;TI=NM_000051;GI=ATM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:92,85:177:99:1684,0,1812:0.480:99 chr11 108175462 rs1801516 G A 5667.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.833;DP=497;Dels=0.00;FS=3.260;HRun=2;HaplotypeScore=12.0300;MQ=53.06;MQ0=0;MQRankSum=1.762;QD=11.40;ReadPosRankSum=0.524;SB=-3674.62;TI=NM_000051;GI=ATM;FC=Missense_D1853N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:254,243:497:99:5668,0,5926:0.489:99 chr11 108183167 rs659243 A G 12612.88 PASS AC=2;AF=1.00;AN=2;DP=526;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4593;MQ=50.46;MQ0=0;QD=23.98;SB=-10007.27;TI=NM_000051;GI=ATM;FC=Missense_N1983S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,526:526:99:12613,864,0:1.000:99 chr11 108236776 . C A 13.35 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.852;DP=26;Dels=0.04;FS=9.700;HRun=19;HaplotypeScore=15.0355;MQ=39.99;MQ0=0;MQRankSum=-1.075;QD=0.51;ReadPosRankSum=-0.704;SB=-0.01;TI=NM_000051;GI=ATM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,4:25:43.14:43,0,537:0.160:13 chr11 108236783 rs227092 G T 217.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.062;DP=23;Dels=0.00;FS=15.233;HRun=1;HaplotypeScore=18.6027;MQ=39.73;MQ0=0;MQRankSum=-1.385;QD=9.44;ReadPosRankSum=-0.154;SB=-40.98;TI=NM_000051;GI=ATM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,11:23:99:247,0,346:0.478:99 chr11 108239015 . CA C 1481.58 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.433;DP=372;FS=10.558;HRun=17;HaplotypeScore=788.8575;MQ=48.56;MQ0=0;MQRankSum=1.297;QD=3.98;ReadPosRankSum=0.460;SB=-745.61;TI=NM_000051;GI=ATM;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:201,71:372:99:1521,0,2128:0.261:99 chr11 108239628 rs4585 G T 2326.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.524;DP=201;Dels=0.00;FS=3.208;HRun=0;HaplotypeScore=7.4424;MQ=49.54;MQ0=0;MQRankSum=-0.156;QD=11.57;ReadPosRankSum=3.181;SB=-1694.37;TI=NM_000051;GI=ATM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:90,110:201:99:2356,0,1978:0.550:99 chr11 111654037 . A G 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=2.8840;MQ=49.96;MQ0=0;MQRankSum=-1.231;QD=4.97;ReadPosRankSum=-1.231;SB=-0.01;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 0/1:3,2:5:54.83:55,0,71:0.400:24 chr11 111654647 . T A 212.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.035;DP=21;Dels=0.00;FS=1.971;HRun=0;HaplotypeScore=7.9256;MQ=46.96;MQ0=0;MQRankSum=3.697;QD=10.10;ReadPosRankSum=1.514;SB=-106.26;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 0/1:11,10:21:99:242,0,289:0.476:99 chr11 111654648 rs2554994 T A 635.53 PASS AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=15;HaplotypeScore=7.9256;MQ=46.96;MQ0=0;QD=30.26;SB=-185.92;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 1/1:0,21:21:54.16:669,54,0:1.000:54 chr11 111654664 . C A 42.10 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.693;DP=21;Dels=0.00;FS=6.864;HRun=15;HaplotypeScore=32.7751;MQ=46.69;MQ0=0;MQRankSum=-3.096;QD=2.00;ReadPosRankSum=-2.271;SB=-0.01;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 0/1:16,5:21:72.10:72,0,381:0.238:42 chr11 111655957 . 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_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 1/1:0,1:1:3.01:41,3,0:1.000:3 chr11 111724133 rs10502151 C T 1371.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.917;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7743;MQ=48.73;MQ0=0;MQRankSum=-0.065;QD=11.33;ReadPosRankSum=0.744;SB=-1123.34;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 0/1:53,68:121:99:1401,0,1185:0.562:99 chr11 111742145 rs10708475 CG C 6208.20 PASS AC=2;AF=1.00;AN=2;DP=140;FS=0.000;HRun=4;HaplotypeScore=86.6713;MQ=48.32;MQ0=0;QD=44.34;SB=-2832.06;TI=NM_024740,NM_001077690;GI=ALG9,ALG9;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,140:140:99:6208,421,0:1.000:99 chr11 118215075 . AGGCT A 1020.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.712;DP=52;FS=0.000;HRun=0;HaplotypeScore=38.6964;MQ=45.05;MQ0=1;MQRankSum=1.528;QD=19.63;ReadPosRankSum=1.850;SB=-502.90;TI=NM_000073;GI=CD3G;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,20:51:99:1060,0,1499:0.385:99 chr11 118224059 rs45508093 A G 7681.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.200;DP=740;Dels=0.00;FS=0.545;HRun=0;HaplotypeScore=22.3374;MQ=54.65;MQ0=0;MQRankSum=1.510;QD=10.38;ReadPosRankSum=-1.050;SB=-5206.34;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:393,346:740:99:7681,0,8520:0.468:99 chr11 118224123 rs73018291 G A 6588.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.550;DP=518;Dels=0.00;FS=2.391;HRun=0;HaplotypeScore=12.2430;MQ=53.24;MQ0=0;MQRankSum=4.297;QD=12.72;ReadPosRankSum=-0.639;SB=-2834.31;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:253,265:518:99:6588,0,6033:0.512:99 chr11 118224239 . CT CTT,C 232.28 LowVariantFreq AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=0.050;DP=57;FS=0.000;HaplotypeScore=352.7307;MQ=33.43;MQ0=0;MQRankSum=0.551;QD=4.08;ReadPosRankSum=-0.584;SB=-150.02;TI=NM_000073;GI=CD3G;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:34,1,7:55:99:310,171,330,170,0,323:0.190:99 chr11 118224418 . G T 218.96 SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.655;DP=21;Dels=0.00;FS=10.263;HRun=5;HaplotypeScore=1.8924;MQ=44.66;MQ0=0;MQRankSum=-3.274;QD=10.43;ReadPosRankSum=-3.908;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,10:21:99:249,0,233:0.476:99 chr11 118224420 . A T 218.04 SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.993;DP=21;Dels=0.00;FS=10.843;HRun=5;HaplotypeScore=3.8254;MQ=44.66;MQ0=0;MQRankSum=-2.711;QD=10.38;ReadPosRankSum=-3.908;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,10:21:99:248,0,197:0.476:99 chr11 118224426 . A T 222.77 SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.289;DP=21;Dels=0.00;FS=10.263;HRun=5;HaplotypeScore=8.7304;MQ=44.66;MQ0=0;MQRankSum=-3.345;QD=10.61;ReadPosRankSum=-3.908;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,10:21:99:253,0,238:0.476:99 chr11 118224427 . G T 189.34 SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.381;DP=21;Dels=0.00;FS=9.332;HRun=1;HaplotypeScore=8.7304;MQ=44.66;MQ0=0;MQRankSum=-2.665;QD=9.02;ReadPosRankSum=-3.234;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,9:21:99:219,0,269:0.429:99 chr11 118224429 . A T 192.35 SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.216;DP=21;Dels=0.05;FS=9.863;HRun=1;HaplotypeScore=8.7304;MQ=44.66;MQ0=0;MQRankSum=-3.039;QD=9.16;ReadPosRankSum=-3.799;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,9:20:99:222,0,236:0.450:99 chr11 118224440 . T C 101.07 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.699;DP=16;Dels=0.00;FS=6.117;HRun=0;HaplotypeScore=0.8941;MQ=48.92;MQ0=0;MQRankSum=-2.606;QD=6.32;ReadPosRankSum=-2.152;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,5:16:99:131,0,246:0.313:99 chr11 118224442 . T G 101.07 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.020;DP=16;Dels=0.00;FS=6.117;HRun=1;HaplotypeScore=0.8941;MQ=48.92;MQ0=0;MQRankSum=-2.719;QD=6.32;ReadPosRankSum=-2.492;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,5:16:99:131,0,249:0.313:99 chr11 118224450 . T C 95.30 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.246;DP=16;Dels=0.00;FS=6.117;HRun=0;HaplotypeScore=0.8941;MQ=48.92;MQ0=0;MQRankSum=-2.945;QD=5.96;ReadPosRankSum=-2.039;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,5:16:99:125,0,248:0.313:95 chr11 118224451 . G A 96.33 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.020;DP=16;Dels=0.00;FS=6.368;HRun=0;HaplotypeScore=0.8941;MQ=48.92;MQ0=0;MQRankSum=-2.606;QD=6.02;ReadPosRankSum=-1.586;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,5:16:99:126,0,219:0.313:96 chr11 118224452 . G C 70.64 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.020;DP=16;Dels=0.00;FS=6.008;HRun=2;HaplotypeScore=0.8941;MQ=48.92;MQ0=0;MQRankSum=-2.832;QD=4.42;ReadPosRankSum=-1.699;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,5:16:99:101,0,248:0.313:70 chr11 118224456 . A G 99.19 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.408;DP=15;Dels=0.00;FS=2.963;HRun=1;HaplotypeScore=0.8941;MQ=48.09;MQ0=0;MQRankSum=-2.388;QD=6.61;ReadPosRankSum=-3.001;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,5:15:99:129,0,237:0.333:99 chr11 118898435 rs5795159 AC A 5355.30 PASS AC=2;AF=1.00;AN=2;DP=134;FS=0.000;HRun=2;HaplotypeScore=31.7608;MQ=43.50;MQ0=0;QD=39.96;SB=-2652.01;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 1/1:6,128:134:99:5355,388,0:0.955:99 chr11 118901166 rs2846281 C G 1358.88 PASS AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=45.69;MQ0=0;QD=23.03;SB=-1018.95;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 1/1:0,59:59:96.32:1392,96,0:1.000:96 chr11 118901262 rs3759012 C T 381.08 LowDP AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.42;MQ0=0;QD=27.22;SB=-239.73;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 1/1:0,14:14:30.10:414,30,0:1.000:30 chr11 118901614 rs1784559 A T 577.25 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.31;MQ0=0;QD=22.20;SB=-477.83;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 1/1:0,26:26:42.14:610,42,0:1.000:42 chr11 118967291 rs7759 A G 509.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.821;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=44.14;MQ0=0;MQRankSum=-1.054;QD=6.62;ReadPosRankSum=-0.026;SB=-404.52;TI=NM_001382;GI=DPAGT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,28:77:99:540,0,1028:0.364:99 chr11 118967524 rs8551 C T 1369.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.227;DP=135;Dels=0.00;FS=1.350;HRun=0;HaplotypeScore=0.8941;MQ=46.14;MQ0=0;MQRankSum=0.143;QD=10.15;ReadPosRankSum=0.205;SB=-1005.33;TI=NM_001382;GI=DPAGT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,67:135:99:1400,0,1372:0.496:99 chr11 118967758 rs643788 T C 1491.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.398;DP=142;Dels=0.00;FS=0.621;HRun=0;HaplotypeScore=4.6818;MQ=46.84;MQ0=0;MQRankSum=-1.599;QD=10.50;ReadPosRankSum=0.758;SB=-1228.52;TI=NM_001382;GI=DPAGT1;FC=Missense_I393V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,74:142:99:1521,0,1324:0.521:99 chr11 121178302 rs1061332 A C 2581.11 PASS AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8772;MQ=50.36;MQ0=0;QD=24.82;SB=-1860.04;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,104:104:99:2614,184,0:1.000:99 chr11 121179847 rs2060008 A T 1898.08 PASS AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=56.02;MQ0=0;QD=32.73;SB=-551.55;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,58:58:99:1931,144,0:1.000:99 chr11 121181164 . CTT C,CT 645.76 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-2.607;DP=68;FS=1.334;HaplotypeScore=168.8833;MQ=33.51;MQ0=0;MQRankSum=1.226;QD=9.50;ReadPosRankSum=0.268;SB=-174.72;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:18,14,2:67:99:724,121,360,229,0,257:0.471:99 chr11 121181343 . A T 559.73 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.729;DP=27;Dels=0.00;FS=13.358;HRun=6;HaplotypeScore=11.5808;MQ=32.88;MQ0=0;MQRankSum=-2.829;QD=20.73;ReadPosRankSum=-3.703;SB=-0.01;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,21:27:90.78:590,0,91:0.778:90 chr11 121181345 . A T 566.48 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.429;DP=27;Dels=0.00;FS=13.358;HRun=5;HaplotypeScore=11.5808;MQ=32.88;MQ0=0;MQRankSum=-2.829;QD=20.98;ReadPosRankSum=-3.703;SB=-0.01;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,21:27:90.08:596,0,90:0.778:90 chr11 121181354 . A T 558.74 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.487;DP=27;Dels=0.00;FS=13.358;HRun=1;HaplotypeScore=13.4664;MQ=32.88;MQ0=0;MQRankSum=-3.120;QD=20.69;ReadPosRankSum=-2.479;SB=-0.01;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,21:27:90.79:589,0,91:0.778:90 chr11 121181362 . G A 519.07 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.477;DP=25;Dels=0.00;FS=7.597;HRun=0;HaplotypeScore=6.7182;MQ=31.85;MQ0=0;MQRankSum=-1.432;QD=20.76;ReadPosRankSum=-3.531;SB=-0.01;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,19:25:52.68:549,0,53:0.760:52 chr11 121181457 . C G 12.26 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.762;DP=9;Dels=0.00;FS=7.782;HRun=0;HaplotypeScore=0.0000;MQ=49.91;MQ0=0;MQRankSum=-1.666;QD=1.36;ReadPosRankSum=-0.067;SB=-0.01;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:41.99:42,0,187:0.222:12 chr11 121181462 . C T 14.10 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.067;DP=9;Dels=0.00;FS=7.782;HRun=0;HaplotypeScore=0.0000;MQ=49.91;MQ0=0;MQRankSum=-1.666;QD=1.57;ReadPosRankSum=-1.179;SB=-0.01;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:43.92:44,0,188:0.222:14 chr11 121181463 . C T 15.92 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.179;DP=9;Dels=0.00;FS=7.782;HRun=0;HaplotypeScore=0.0000;MQ=49.91;MQ0=0;MQRankSum=-1.666;QD=1.77;ReadPosRankSum=-1.179;SB=-0.01;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:45.80:46,0,190:0.222:15 chr11 121183145 rs35288685 T C 2072.26 PASS AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=55.94;MQ0=0;QD=26.57;SB=-1514.62;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,78:78:99:2105,150,0:1.000:99 chr11 128707975 rs675759 G C 1700.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.407;DP=178;Dels=0.00;FS=1.163;HRun=1;HaplotypeScore=0.0000;MQ=48.00;MQ0=0;MQRankSum=-2.432;QD=9.56;ReadPosRankSum=-0.006;SB=-1330.76;TI=NM_000220,NM_153765,NM_153764,NM_153766,NM_153767;GI=KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:93,85:178:99:1731,0,1887:0.478:99 chr11 128708009 rs675388 G A 1462.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.473;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7041;MQ=48.79;MQ0=0;MQRankSum=-2.205;QD=9.81;ReadPosRankSum=-0.036;SB=-1073.43;TI=NM_000220,NM_153765,NM_153764,NM_153766,NM_153767;GI=KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:77,72:149:99:1492,0,1591:0.483:99 chr11 128708344 rs673992 T C 611.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.877;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.35;MQ0=0;MQRankSum=-0.770;QD=16.09;ReadPosRankSum=0.841;SB=-509.46;TI=NM_000220,NM_153765,NM_153764,NM_153766,NM_153767;GI=KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,30:38:99:641,0,152:0.789:99 chr11 128708518 . C CTTG 2290.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.852;DP=103;FS=0.749;HRun=0;HaplotypeScore=19.5110;MQ=54.72;MQ0=0;MQRankSum=3.007;QD=22.24;ReadPosRankSum=0.326;SB=-1030.79;TI=NM_000220,NM_153765,NM_153764,NM_153766,NM_153767;GI=KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,45:103:99:2330,0,2914:0.446:99 chr11 128708947 rs1231254 T A 2816.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.551;DP=247;Dels=0.00;FS=0.471;HRun=0;HaplotypeScore=6.3478;MQ=45.87;MQ0=0;MQRankSum=-1.140;QD=11.40;ReadPosRankSum=-0.630;SB=-2330.94;TI=NM_000220,NM_153765,NM_153764,NM_153766,NM_153767;GI=KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,140:247:99:2847,0,2093:0.567:99 chr11 128737188 rs2855790 A G 2304.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.073;DP=195;Dels=0.00;FS=5.037;HRun=2;HaplotypeScore=3.7876;MQ=50.36;MQ0=0;MQRankSum=2.271;QD=11.82;ReadPosRankSum=-0.163;SB=-1490.10;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 0/1:90,104:195:99:2334,0,1942:0.536:99 chr12 6457062 rs2228576 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_001159576,NM_001038,NM_001159575;GI=SCNN1A,SCNN1A,SCNN1A;FC=Missense_T722A,Missense_T663A,Missense_T686A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:6.02:85,6,0:1.000:6 chr12 32735236 rs904582 C T 442.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.045;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8912;MQ=48.90;MQ0=0;MQRankSum=0.072;QD=9.22;ReadPosRankSum=-0.383;SB=-332.87;TI=NM_139241;GI=FGD4;FC=Synonymous_D145D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,22:48:99:472,0,637:0.458:99 chr12 32794615 rs56110646 C T 813.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.564;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8927;MQ=49.62;MQ0=0;MQRankSum=-0.654;QD=7.97;ReadPosRankSum=-0.397;SB=-508.51;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,37:102:99:843,0,1433:0.363:99 chr12 32795190 rs4931030 C T 1873.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.746;DP=159;Dels=0.00;FS=1.263;HRun=1;HaplotypeScore=0.8941;MQ=46.53;MQ0=0;MQRankSum=-2.316;QD=11.79;ReadPosRankSum=0.415;SB=-1420.54;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,89:159:99:1904,0,1510:0.560:99 chr12 32795295 rs4931031 A T 637.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.673;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9998;MQ=56.62;MQ0=0;MQRankSum=-0.170;QD=15.56;ReadPosRankSum=2.413;SB=-209.49;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,21:41:99:668,0,561:0.512:99 chr12 32795421 rs1239829 A G 2596.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.654;DP=255;Dels=0.00;FS=0.457;HRun=0;HaplotypeScore=4.7874;MQ=48.19;MQ0=0;MQRankSum=0.470;QD=10.18;ReadPosRankSum=1.562;SB=-1998.86;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:132,123:255:99:2627,0,2745:0.482:99 chr12 32796393 rs35414810 ACTAT A 3979.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.226;DP=144;FS=4.028;HRun=0;HaplotypeScore=57.9618;MQ=50.43;MQ0=0;MQRankSum=0.146;QD=27.64;ReadPosRankSum=1.375;SB=-1418.71;TI=NM_139241;GI=FGD4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,60:144:99:3980,0,5578:0.420:99 chr12 32796597 rs73087441 G A 1674.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.232;DP=152;Dels=0.00;FS=0.657;HRun=0;HaplotypeScore=45.2941;MQ=53.26;MQ0=0;MQRankSum=1.244;QD=11.02;ReadPosRankSum=2.093;SB=-647.41;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:82,68:152:99:1705,0,1986:0.453:99 chr12 32797237 rs11052123 G T 275.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.290;DP=28;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=51.42;MQ0=0;MQRankSum=0.737;QD=9.85;ReadPosRankSum=-2.672;SB=-240.47;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,15:28:99:306,0,298:0.536:99 chr12 32797386 . TA T 321.91 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.318;DP=16;FS=1.987;HRun=1;HaplotypeScore=1.7253;MQ=58.55;MQ0=0;MQRankSum=-1.482;QD=20.12;ReadPosRankSum=-0.318;SB=-163.76;TI=NM_139241;GI=FGD4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,9:16:99:361,0,269:0.563:99 chr12 32797822 . CA C 174.62 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.753;DP=128;FS=3.583;HRun=14;HaplotypeScore=275.3036;MQ=53.83;MQ0=0;MQRankSum=1.500;QD=1.36;ReadPosRankSum=-0.044;SB=-85.33;TI=NM_139241;GI=FGD4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:90,17:128:99:214,0,1586:0.159:99 chr12 32797905 rs11052124 A G 1310.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.181;DP=121;Dels=0.00;FS=4.353;HRun=0;HaplotypeScore=0.8941;MQ=52.33;MQ0=0;MQRankSum=0.927;QD=10.83;ReadPosRankSum=-1.187;SB=-813.03;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,57:121:99:1340,0,1508:0.471:99 chr12 32798227 . CT C 328.36 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.305;DP=80;FS=0.000;HRun=12;HaplotypeScore=77.1191;MQ=48.93;MQ0=0;MQRankSum=0.829;QD=4.10;ReadPosRankSum=1.028;SB=-175.54;TI=NM_139241;GI=FGD4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,19:80:99:367,0,1054:0.292:99 chr12 32798458 rs1239830 A G 1379.02 PASS AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=44.85;MQ0=0;QD=23.37;SB=-1163.97;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,59:59:96.32:1412,96,0:1.000:96 chr12 32798665 rs1133509 G A 1025.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.910;DP=108;Dels=0.00;FS=0.755;HRun=0;HaplotypeScore=3.7552;MQ=49.22;MQ0=0;MQRankSum=-0.618;QD=9.50;ReadPosRankSum=1.581;SB=-591.57;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,46:108:99:1056,0,1523:0.426:99 chr12 48235697 rs73109835 G A 1125.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.999;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=53.33;MQ0=0;MQRankSum=-0.940;QD=8.86;ReadPosRankSum=-0.524;SB=-864.45;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,59:127:99:1155,0,1488:0.465:99 chr12 48236386 rs2853562 T A 115.67 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.24;MQ0=0;QD=28.92;SB=-40.19;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,4:4:12.04:148,12,0:1.000:12 chr12 48236461 . G T 16.19 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=29.00;MQ0=0;MQRankSum=-1.231;QD=3.24;ReadPosRankSum=-1.231;SB=-18.61;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:5:46.08:46,0,76:0.400:16 chr12 48236462 . T C 21.86 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=29.00;MQ0=0;MQRankSum=1.231;QD=4.37;ReadPosRankSum=-1.231;SB=-24.41;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:5:51.83:52,0,85:0.400:21 chr12 48236550 rs2544043 G C 491.18 PASS AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=53.65;MQ0=0;QD=24.56;SB=-257.79;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,20:20:39.12:524,39,0:1.000:39 chr12 48236623 rs9729 G T 4418.75 PASS AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4262;MQ=45.52;MQ0=0;QD=23.01;SB=-3652.57;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,192:192:99:4419,301,0:1.000:99 chr12 48237735 rs11574125;rs78783628 CA C 1359.16 PASS AC=2;AF=1.00;AN=2;DP=31;FS=0.000;HRun=1;HaplotypeScore=26.7149;MQ=47.63;MQ0=0;QD=43.84;SB=-679.97;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,31:31:93.32:1401,93,0:1.000:93 chr12 48238221 rs739837 G T 1050.89 PASS AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.81;MQ0=0;QD=23.88;SB=-839.37;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,44:44:75.25:1084,75,0:1.000:75 chr12 48238757 rs731236 A G 1294.87 PASS AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=40.53;MQ0=0;QD=22.72;SB=-1064.71;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Synonymous_I352I,Synonymous_I352I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,57:57:90.30:1328,90,0:1.000:90 chr12 48272895 rs2228570 A G 1462.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.875;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8936;MQ=41.94;MQ0=0;MQRankSum=-2.840;QD=10.02;ReadPosRankSum=-2.069;SB=-1200.76;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Missense_M1T,Missense_M1T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,74:146:99:1493,0,1438:0.507:99 chr12 48293716 rs11168293 G T 1664.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.240;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7876;MQ=43.78;MQ0=0;MQRankSum=-1.633;QD=9.14;ReadPosRankSum=1.509;SB=-1361.58;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,83:182:99:1694,0,1943:0.456:99 chr12 53703021 rs1546808 G A 2673.94 PASS AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8100;MQ=49.04;MQ0=0;QD=23.87;SB=-1919.51;TI=NM_015665,NM_001173466;GI=AAAS,AAAS;FC=Synonymous_F285F,Synonymous_F252F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,112:112:99:2707,187,0:1.000:99 chr12 53708910 rs11540353 A G 3695.81 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.637;DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.8795;MQ=53.22;MQ0=0;MQRankSum=-1.305;QD=25.31;ReadPosRankSum=0.427;SB=-2453.48;TI=NM_015665,NM_001173466;GI=AAAS,AAAS;FC=Synonymous_D138D,Synonymous_D138D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,145:146:99:3696,236,0:0.993:99 chr12 56398454 rs773115 G C 3297.25 PASS AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=42.59;MQ0=0;QD=24.07;SB=-2529.35;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 1/1:0,137:137:99:3297,226,0:1.000:99 chr12 56494991 rs2271189 G A 220.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.443;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=43.11;MQ0=0;MQRankSum=0.619;QD=5.37;ReadPosRankSum=3.423;SB=-213.63;TI=NM_001982;GI=ERBB3;FC=Synonymous_R1116R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,14:41:99:250,0,559:0.341:99 chr12 56496752 . GA G 249.51 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.937;DP=113;FS=0.000;HRun=12;HaplotypeScore=141.2831;MQ=50.44;MQ0=0;MQRankSum=1.913;QD=2.21;ReadPosRankSum=-0.121;SB=-126.43;TI=NM_001982;GI=ERBB3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,20:113:99:289,0,1711:0.220:99 chr12 58176614 rs10747783 T C 1060.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.644;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3097;MQ=48.39;MQ0=0;MQRankSum=-1.556;QD=8.77;ReadPosRankSum=-1.968;SB=-786.49;TI=NM_001172696,NM_005726,NM_001172695,NM_001172697;GI=TSFM,TSFM,TSFM,TSFM;FC=Synonymous_F10F,Synonymous_F10F,Synonymous_F10F,Synonymous_F10F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,54:121:99:1091,0,1468:0.446:99 chr12 58196447 rs10783847 G A 1827.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.045;DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0619;MQ=47.46;MQ0=0;MQRankSum=-0.795;QD=11.01;ReadPosRankSum=-2.972;SB=-1348.52;TI=NM_001172697,NM_006576;GI=TSFM,AVIL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:81,85:166:99:1857,0,1656:0.512:99 chr12 58196528 rs10783848 G A 2453.62 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.220;DP=193;Dels=0.00;FS=0.539;HRun=2;HaplotypeScore=3.8851;MQ=47.13;MQ0=0;MQRankSum=-2.557;QD=12.71;ReadPosRankSum=0.774;SB=-1953.56;TI=NM_001172697,NM_006576;GI=TSFM,AVIL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,117:193:99:2484,0,1489:0.606:99 chr12 88474130 rs73192874 C T 5941.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.826;DP=491;Dels=0.00;FS=0.676;HRun=0;HaplotypeScore=10.9404;MQ=51.22;MQ0=0;MQRankSum=3.534;QD=12.10;ReadPosRankSum=0.680;SB=-4238.62;TI=NM_025114;GI=CEP290;FC=Synonymous_A1685A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:224,267:491:99:5942,0,4551:0.544:99 chr12 88505078 rs2468255 T C 10648.80 PASS AC=2;AF=1.00;AN=2;DP=415;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0256;MQ=50.58;MQ0=0;QD=25.66;SB=-7679.03;TI=NM_025114;GI=CEP290;FC=Synonymous_S756S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,415:415:99:10649,743,0:1.000:99 chr12 102140050 . C CCT 3601.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.730;DP=146;FS=2.175;HRun=0;HaplotypeScore=40.5509;MQ=54.67;MQ0=0;MQRankSum=5.645;QD=24.66;ReadPosRankSum=1.599;SB=-1467.12;TI=NM_024312;GI=GNPTAB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,83:146:99:3601,0,2232:0.576:99 chr12 102158763 rs10778148 T C 1677.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.896;DP=206;Dels=0.00;FS=1.109;HRun=1;HaplotypeScore=6.4260;MQ=49.19;MQ0=0;MQRankSum=-0.869;QD=8.14;ReadPosRankSum=0.131;SB=-1137.11;TI=NM_024312;GI=GNPTAB;FC=Synonymous_T644T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:126,80:206:99:1708,0,2690:0.388:99 chr12 102224436 rs4764655 C T 1487.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.465;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6127;MQ=41.16;MQ0=0;MQRankSum=-0.433;QD=10.26;ReadPosRankSum=-2.802;SB=-1212.87;TI=NM_024312;GI=GNPTAB;FC=Synonymous_L6L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,74:145:99:1518,0,1409:0.510:99 chr12 102224491 . AGCC A 2051.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.359;DP=121;FS=0.000;HRun=0;HaplotypeScore=184.7323;MQ=40.08;MQ0=0;MQRankSum=-0.541;QD=16.95;ReadPosRankSum=0.624;SB=-991.04;TI=NM_024312;GI=GNPTAB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,45:121:99:2091,0,2210:0.372:99 chr12 102224636 . T C 15.29 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.589;DP=8;Dels=0.00;FS=3.332;HRun=1;HaplotypeScore=0.0000;MQ=35.17;MQ0=0;MQRankSum=-1.589;QD=1.91;ReadPosRankSum=-0.572;SB=-0.01;TI=NM_024312;GI=GNPTAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:45.15:45,0,119:0.250:15 chr12 102224641 . G C 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.589;DP=8;Dels=0.00;FS=3.332;HRun=0;HaplotypeScore=0.0000;MQ=35.17;MQ0=0;MQRankSum=-1.589;QD=2.73;ReadPosRankSum=-0.572;SB=-0.01;TI=NM_024312;GI=GNPTAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:51.82:52,0,119:0.250:21 chr12 103234252 rs5030860 T C 1571.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.543;DP=168;Dels=0.00;FS=0.570;HRun=0;HaplotypeScore=6.7804;MQ=46.33;MQ0=0;MQRankSum=-1.391;QD=9.35;ReadPosRankSum=0.006;SB=-1166.29;TI=NM_000277;GI=PAH;FC=Missense_Y414C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,77:168:99:1602,0,1916:0.458:99 chr12 103237468 rs772897 G C 4293.25 PASS AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8854;MQ=45.13;MQ0=0;QD=23.72;SB=-3484.16;TI=NM_000277;GI=PAH;FC=Synonymous_L385L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,181:181:99:4293,295,0:1.000:99 chr12 103246700 rs1042503 C T 5918.30 PASS AC=2;AF=1.00;AN=2;DP=262;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=44.62;MQ0=0;QD=22.59;SB=-5034.21;TI=NM_000277;GI=PAH;FC=Synonymous_V245V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,262:262:99:5918,400,0:1.000:99 chr12 109991685 rs11067227 C T 547.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.243;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.52;MQ0=0;MQRankSum=-0.954;QD=16.60;ReadPosRankSum=-2.002;SB=-274.55;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,21:33:99:578,0,331:0.636:99 chr12 109991998 rs12817689 A G 965.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.039;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9971;MQ=40.91;MQ0=0;MQRankSum=-3.559;QD=8.78;ReadPosRankSum=1.003;SB=-858.97;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,52:110:99:995,0,1161:0.473:99 chr12 109992132 rs2241201 C G 233.79 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.380;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.16;MQ0=0;MQRankSum=0.054;QD=14.61;ReadPosRankSum=-1.681;SB=-98.65;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,10:16:99:264,0,138:0.625:99 chr12 109992149 rs35145546 C G 223.17 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.423;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.63;MQ0=0;MQRankSum=0.529;QD=13.95;ReadPosRankSum=-1.694;SB=-68.62;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,9:16:99:253,0,175:0.563:99 chr12 109992958 rs10623308 T TTA 1136.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.359;DP=51;FS=1.117;HRun=0;HaplotypeScore=40.5942;MQ=51.40;MQ0=0;MQRankSum=3.598;QD=22.28;ReadPosRankSum=-2.139;SB=-572.14;TI=NM_052845;GI=MMAB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,31:51:99:1175,0,618:0.633:99 chr12 109993254 . ATTT A,ATT 313.00 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=0.852;DP=32;FS=0.000;HaplotypeScore=84.7556;MQ=43.27;MQ0=0;MQRankSum=-0.111;QD=9.78;ReadPosRankSum=-0.037;SB=-113.07;TI=NM_052845;GI=MMAB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:9,6,0:32:63.19:391,63,190,213,0,192:0.400:63 chr12 109993298 rs34921355 C T 255.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.303;DP=35;Dels=0.00;FS=3.176;HRun=0;HaplotypeScore=10.7291;MQ=42.59;MQ0=0;MQRankSum=-0.122;QD=7.31;ReadPosRankSum=-0.886;SB=-134.10;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,12:35:99:286,0,542:0.343:99 chr12 109993603 rs11067231 C A 2967.95 PASS AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.10;MQ0=0;QD=23.01;SB=-2551.07;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,129:129:99:3001,205,0:1.000:99 chr12 109993942 rs877709 G T 657.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.138;DP=65;Dels=0.00;FS=2.043;HRun=0;HaplotypeScore=0.0000;MQ=49.24;MQ0=0;MQRankSum=1.083;QD=10.12;ReadPosRankSum=0.217;SB=-435.31;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,32:65:99:688,0,749:0.492:99 chr12 109993976 rs877710 C G 1104.58 PASS AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53.33;MQ0=0;QD=26.30;SB=-759.51;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,42:42:81.27:1138,81,0:1.000:81 chr12 109994208 rs11067233 C G 151.86 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.788;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.84;MQ0=0;MQRankSum=0.473;QD=9.49;ReadPosRankSum=1.733;SB=-102.61;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,8:16:99:182,0,219:0.500:99 chr12 109994453 rs74967596 T A 716.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.510;DP=69;Dels=0.00;FS=3.425;HRun=0;HaplotypeScore=2.9150;MQ=44.00;MQ0=0;MQRankSum=-0.078;QD=10.39;ReadPosRankSum=-0.474;SB=-464.60;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,34:69:99:747,0,827:0.493:99 chr12 109994870 rs9593 A T 1733.83 PASS AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45.21;MQ0=0;QD=22.81;SB=-1501.12;TI=NM_052845;GI=MMAB;FC=Missense_M239K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,76:76:99:1767,120,0:1.000:99 chr12 110011229 rs10774774 G T 201.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.760;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=49.84;MQ0=0;MQRankSum=1.292;QD=10.07;ReadPosRankSum=0.000;SB=-164.19;TI=NM_052845;GI=MMAB;FC=Synonymous_R19R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,11:20:99:231,0,186:0.550:99 chr12 110011230 rs10774775 C T 204.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=49.84;MQ0=0;MQRankSum=0.608;QD=10.22;ReadPosRankSum=0.076;SB=-154.18;TI=NM_052845;GI=MMAB;FC=Missense_R19H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,11:20:99:234,0,141:0.550:99 chr12 110013879 rs7957619 G A 2155.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.761;DP=221;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8905;MQ=47.94;MQ0=0;MQRankSum=1.259;QD=9.75;ReadPosRankSum=3.365;SB=-1826.19;TI=NM_000431,NM_001114185;GI=MVK,MVK;FC=Missense_S52N,Missense_S52N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:111,110:221:99:2185,0,2249:0.498:99 chr12 110019338 rs2287218 C T 1689.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.448;DP=182;Dels=0.00;FS=1.141;HRun=0;HaplotypeScore=0.8667;MQ=42.36;MQ0=0;MQRankSum=-2.735;QD=9.28;ReadPosRankSum=2.651;SB=-1395.17;TI=NM_000431,NM_001114185;GI=MVK,MVK;FC=Synonymous_D170D,Synonymous_D170D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,87:182:99:1720,0,1865:0.478:99 chr12 122064773 . CCCGCCA C 2406.76 PASS AC=2;AF=1.00;AN=2;DP=34;FS=0.000;HRun=0;HaplotypeScore=14.1737;MQ=44.82;MQ0=0;QD=70.79;SB=-1209.91;TI=NM_032790;GI=ORAI1;FC=2AA_Deletion;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,33:34:99:2449,102,0:0.971:99 chr12 122079734 rs73227930 C T 1895.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.014;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=44.19;MQ0=0;MQRankSum=-1.161;QD=9.92;ReadPosRankSum=1.415;SB=-1559.16;TI=NM_032790;GI=ORAI1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,96:191:99:1926,0,1849:0.503:99 chr12 122295335 rs1154510 T C 950.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.730;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8936;MQ=44.51;MQ0=0;MQRankSum=-1.563;QD=9.32;ReadPosRankSum=0.438;SB=-822.31;TI=NM_002150,NM_001171993;GI=HPD,HPD;FC=Missense_T33A,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,50:102:99:981,0,1036:0.490:99 chr12 122297188 rs66611928 A C 112.63 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DP=9;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9998;MQ=60.00;MQ0=0;MQRankSum=-1.159;QD=12.51;ReadPosRankSum=1.159;SB=-36.99;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 0/1:4,5:9:99:143,0,136:0.556:99 chr12 122301275 rs11043222 C T 111.04 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.380;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=18.51;ReadPosRankSum=0.000;SB=-0.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 0/1:2,4:6:63.23:141,0,63:0.667:63 chr12 122301299 rs10840624 A G 137.12 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.380;QD=11.43;ReadPosRankSum=0.529;SB=-0.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 0/1:7,5:12:99:167,0,239:0.417:99 chr12 122302761 . AAAC A 263.12 LowGQ;R8;LowDP AC=2;AF=1.00;AN=2;DP=6;FS=0.000;HRun=0;HaplotypeScore=0.8128;MQ=37.00;MQ0=0;QD=43.85;SB=-151.68;TI=NM_001171993;GI=HPD;FC=Noncoding GT:AD:DP:GQ:PL:VF:GQX 1/1:0,6:6:18.06:305,18,0:1.000:18 chr12 122310599 rs2141875 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=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 122310638 . A G 21.86 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=49.96;MQ0=0;MQRankSum=-1.231;QD=4.37;ReadPosRankSum=-1.231;SB=-0.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:5:51.82:52,0,106:0.400:21 chr12 122310640 . G T 21.86 SB;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=49.96;MQ0=0;MQRankSum=-1.231;QD=4.37;ReadPosRankSum=-1.231;SB=-0.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:5:51.82:52,0,106:0.400:21 chr12 124197099 rs1139320 C T 727.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.629;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5886;MQ=44.20;MQ0=0;MQRankSum=-0.690;QD=7.06;ReadPosRankSum=-2.295;SB=-574.56;TI=NM_012463;GI=ATP6V0A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,39:103:99:758,0,1298:0.379:99 chr12 124209332 rs1139789 T C 2728.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.779;DP=286;Dels=0.00;FS=2.580;HRun=0;HaplotypeScore=2.8937;MQ=45.22;MQ0=0;MQRankSum=-2.842;QD=9.54;ReadPosRankSum=1.194;SB=-2132.89;TI=NM_012463;GI=ATP6V0A2;FC=Synonymous_N142N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:153,132:286:99:2758,0,3299:0.463:99 chr12 124210782 rs1399961 T C 2308.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.666;DP=210;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3635;MQ=49.31;MQ0=0;MQRankSum=2.002;QD=10.99;ReadPosRankSum=-1.306;SB=-1681.20;TI=NM_012463;GI=ATP6V0A2;FC=Synonymous_S157S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,111:210:99:2338,0,2023:0.529:99 chr12 124229429 rs7135542 T C 2101.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.298;DP=225;Dels=0.00;FS=1.029;HRun=0;HaplotypeScore=2.6274;MQ=45.29;MQ0=0;MQRankSum=-1.484;QD=9.34;ReadPosRankSum=0.473;SB=-1748.82;TI=NM_012463;GI=ATP6V0A2;FC=Unknown_505;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:119,106:225:99:2132,0,2454:0.471:99 chr12 124243070 . CT C 325.31 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.499;DP=150;FS=4.024;HRun=15;HaplotypeScore=368.6945;MQ=51.02;MQ0=0;MQRankSum=0.778;QD=2.17;ReadPosRankSum=-0.507;SB=-174.63;TI=NM_012463;GI=ATP6V0A2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:82,23:150:99:364,0,1460:0.219:99 chr12 124243250 . G T 61.94 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.626;DP=36;Dels=0.03;FS=13.074;HRun=5;HaplotypeScore=5.7990;MQ=41.41;MQ0=0;MQRankSum=-3.559;QD=1.72;ReadPosRankSum=-3.088;SB=-0.01;TI=NM_012463;GI=ATP6V0A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,5:35:91.94:92,0,755:0.143:61 chr12 124243252 . A T 87.58 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DP=36;Dels=0.00;FS=16.196;HRun=1;HaplotypeScore=5.7990;MQ=41.41;MQ0=0;MQRankSum=-3.842;QD=2.43;ReadPosRankSum=-3.459;SB=-0.01;TI=NM_012463;GI=ATP6V0A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,6:36:99:118,0,768:0.167:87 chr12 124243707 rs10744162 T C 1094.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.402;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=51.00;MQ0=0;MQRankSum=0.260;QD=8.75;ReadPosRankSum=2.164;SB=-858.73;TI=NM_012463;GI=ATP6V0A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,59:125:99:1124,0,1414:0.472:99 chr12 124244272 rs10846553 C G 230.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.889;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51.95;MQ0=0;MQRankSum=-1.717;QD=4.42;ReadPosRankSum=0.384;SB=-200.87;TI=NM_012463;GI=ATP6V0A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,15:52:99:260,0,899:0.288:99 chr12 124246004 rs2333834 G A 2510.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.327;DP=263;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6770;MQ=48.97;MQ0=0;MQRankSum=-2.044;QD=9.55;ReadPosRankSum=-0.202;SB=-1991.72;TI=NM_012463;GI=ATP6V0A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:139,124:263:99:2540,0,2828:0.471:99 chr13 20761763 rs7988691 A G 1404.56 PASS AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.44;MQ0=0;QD=31.21;SB=-873.92;TI=NM_004004;GI=GJB2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,45:45:99:1438,105,0:1.000:99 chr13 20761888 rs7623 C T 6393.86 PASS AC=2;AF=1.00;AN=2;DP=247;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=50.16;MQ0=0;QD=25.89;SB=-4059.77;TI=NM_004004;GI=GJB2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,247:247:99:6394,445,0:1.000:99 chr13 20761973 rs9237 C A 4347.99 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.711;DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=57.10;MQ0=0;MQRankSum=0.021;QD=26.51;ReadPosRankSum=-1.183;SB=-2893.91;TI=NM_004004;GI=GJB2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,163:164:99:4348,307,0:0.994:99 chr13 20762956 rs3751385 A G 1400.78 PASS AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=56.52;MQ0=0;QD=25.47;SB=-929.42;TI=NM_004004;GI=GJB2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,55:55:99:1434,102,0:1.000:99 chr13 23903791 rs4770433 A G 505.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.596;DP=40;Dels=0.00;FS=2.785;HRun=1;HaplotypeScore=1.8907;MQ=53.10;MQ0=0;MQRankSum=2.085;QD=12.64;ReadPosRankSum=0.515;SB=-195.24;TI=NM_014363;GI=SACS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,19:40:99:536,0,464:0.475:99 chr13 23907677 rs2737701 C T 4474.16 PASS AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48.39;MQ0=0;QD=25.00;SB=-3505.78;TI=NM_014363;GI=SACS;FC=Synonymous_Q3446Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,179:179:99:4474,310,0:1.000:99 chr13 23908034 rs2737700 A G 1125.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.296;DP=122;Dels=0.00;FS=2.338;HRun=1;HaplotypeScore=4.6602;MQ=50.57;MQ0=0;MQRankSum=-0.708;QD=9.22;ReadPosRankSum=-1.937;SB=-717.85;TI=NM_014363;GI=SACS;FC=Synonymous_A3327A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,53:122:99:1155,0,1520:0.434:99 chr13 23928671 rs17325713 C T 1374.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=43.74;MQ0=0;MQRankSum=-0.880;QD=10.83;ReadPosRankSum=1.617;SB=-1160.46;TI=NM_014363;GI=SACS;FC=Missense_A694T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,70:127:99:1405,0,1124:0.551:99 chr13 23985391 rs17078720 T C 4201.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.518;DP=359;Dels=0.00;FS=4.076;HRun=2;HaplotypeScore=8.2304;MQ=52.74;MQ0=0;MQRankSum=0.128;QD=11.70;ReadPosRankSum=-0.896;SB=-2367.84;TI=NM_014363;GI=SACS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:182,177:359:99:4202,0,4227:0.493:99 chr13 24007783 rs73154650 C T 530.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.257;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8409;MQ=49.20;MQ0=0;MQRankSum=-0.303;QD=10.19;ReadPosRankSum=1.716;SB=-445.97;TI=NM_014363;GI=SACS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,28:52:99:560,0,490:0.538:99 chr13 39262057 rs1868464 G A 425.26 LowDP AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53.03;MQ0=0;QD=25.02;SB=-221.92;TI=NM_207361;GI=FREM2;FC=Synonymous_E192E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,17:17:33.11:458,33,0:1.000:33 chr13 39263714 rs2496423 T C 430.59 LowDP AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=51.22;MQ0=0;QD=26.91;SB=-188.72;TI=NM_207361;GI=FREM2;FC=Missense_S745P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,16:16:33.11:464,33,0:1.000:33 chr13 39264690 rs2496425 T C 160.20 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.468;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=60.00;MQ0=0;MQRankSum=-0.825;QD=13.35;ReadPosRankSum=0.289;SB=-140.49;TI=NM_207361;GI=FREM2;FC=Missense_F1070S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,8:12:99:190,0,101:0.667:99 chr13 39343822 rs9603422 C T 634.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.830;DP=68;Dels=0.00;FS=0.937;HRun=0;HaplotypeScore=4.5976;MQ=45.91;MQ0=0;MQRankSum=-0.899;QD=9.33;ReadPosRankSum=-0.195;SB=-427.30;TI=NM_207361;GI=FREM2;FC=Missense_R1840W;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,31:68:99:664,0,815:0.463:99 chr13 39430314 rs9548509 C T 5676.64 PASS AC=2;AF=1.00;AN=2;DP=227;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9409;MQ=46.49;MQ0=0;QD=25.01;SB=-3712.35;TI=NM_207361;GI=FREM2;FC=Missense_T2326I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,226:227:99:5677,415,0:1.000:99 chr13 39433606 rs9532292 A G 3635.53 PASS AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=41.27;MQ0=0;QD=23.01;SB=-3038.57;TI=NM_207361;GI=FREM2;FC=Synonymous_T2466T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,158:158:99:3636,247,0:1.000:99 chr13 39457850 rs1945508 G A 1601.15 PASS AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.04;MQ0=0;QD=27.61;SB=-1074.07;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,58:58:99:1634,117,0:1.000:99 chr13 39458116 rs7337135 T C 1669.63 PASS AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6760;MQ=49.42;MQ0=0;QD=25.30;SB=-1033.44;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,65:66:99:1703,120,0:1.000:99 chr13 39458405 rs2184141 G A 4581.46 PASS AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8773;MQ=48.86;MQ0=0;QD=23.49;SB=-3834.16;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,195:195:99:4581,313,0:1.000:99 chr13 39459389 rs2027770 C T 5260.52 PASS AC=2;AF=1.00;AN=2;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54.37;MQ0=0;QD=27.98;SB=-3645.68;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,188:188:99:5261,373,0:1.000:99 chr13 39459484 rs2225623 G A 4620.98 PASS AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4704;MQ=54.51;MQ0=0;QD=29.43;SB=-2948.67;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,156:157:99:4621,334,0:1.000:99 chr13 39459694 rs6563648 C T 3757.12 PASS AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=57.31;MQ0=0;QD=30.80;SB=-1599.81;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,122:122:99:3757,274,0:1.000:99 chr13 39460415 rs2226913 G A 4588.32 PASS AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.2478;MQ=50.14;MQ0=0;QD=25.63;SB=-2876.69;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,179:179:99:4588,322,0:1.000:99 chr13 39460466 rs7327529 T A 4554.15 PASS AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=13.4869;MQ=47.64;MQ0=0;QD=26.02;SB=-2765.38;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,175:175:99:4554,322,0:1.000:99 chr13 41373254 rs41396747;rs55943532 G A 1222.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.771;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=40.77;MQ0=0;MQRankSum=-0.141;QD=7.64;ReadPosRankSum=1.172;SB=-1022.96;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Synonymous_T39T,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:96,64:160:99:1252,0,1969:0.400:99 chr13 41379272 rs9577152 C T 1785.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.056;DP=158;Dels=0.00;FS=1.246;HRun=0;HaplotypeScore=2.9890;MQ=42.80;MQ0=0;MQRankSum=-0.436;QD=11.30;ReadPosRankSum=0.639;SB=-1495.37;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Synonymous_A111A,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,88:158:99:1816,0,1419:0.557:99 chr13 41384413 rs7320743 G T 345.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.092;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=49.62;MQ0=0;MQRankSum=-2.419;QD=14.38;ReadPosRankSum=-0.521;SB=-278.01;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,16:24:99:375,0,189:0.667:99 chr13 41384487 . C T 927.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.346;DP=89;Dels=0.00;FS=0.794;HRun=0;HaplotypeScore=0.8941;MQ=40.48;MQ0=0;MQRankSum=-1.140;QD=10.42;ReadPosRankSum=-0.893;SB=-770.22;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,48:89:99:958,0,822:0.539:99 chr13 41384732 rs17061602 G C 1043.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.165;DP=170;Dels=0.00;FS=0.593;HRun=0;HaplotypeScore=3.5764;MQ=42.21;MQ0=0;MQRankSum=-4.707;QD=6.14;ReadPosRankSum=0.611;SB=-910.49;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:110,60:170:99:1073,0,2293:0.353:99 chr13 41385444 rs73174827 G T 158.52 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.212;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.84;MQ0=0;MQRankSum=-0.106;QD=9.91;ReadPosRankSum=0.953;SB=-102.61;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,9:16:99:189,0,148:0.563:99 chr13 41385624 . CA C 44.45 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.032;DP=51;FS=0.000;HRun=11;HaplotypeScore=217.9844;MQ=47.72;MQ0=0;MQRankSum=2.302;QD=0.87;ReadPosRankSum=0.702;SB=-37.43;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,8:51:83.48:83,0,968:0.174:44 chr13 41385658 rs9566580;rs41515050 C A 2213.50 PASS AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9330;MQ=43.83;MQ0=0;QD=23.06;SB=-1775.93;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,96:96:99:2246,154,0:1.000:99 chr13 41386131 rs9577154 G T 1517.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.698;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8933;MQ=43.77;MQ0=0;MQRankSum=-4.414;QD=9.92;ReadPosRankSum=-1.653;SB=-1223.83;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,74:153:99:1548,0,1562:0.487:99 chr13 48517289 rs4941618 A G 5862.98 PASS AC=2;AF=1.00;AN=2;DP=241;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5711;MQ=49.43;MQ0=0;QD=24.33;SB=-4543.44;TI=NM_003850;GI=SUCLA2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,241:241:99:5863,403,0:1.000:99 chr13 48547467 rs7320366 A T 6059.77 PASS AC=2;AF=1.00;AN=2;DP=255;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3371;MQ=49.45;MQ0=0;QD=23.76;SB=-4899.78;TI=NM_003850;GI=SUCLA2;FC=Missense_S199T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,255:255:99:6060,415,0:1.000:99 chr13 52507110 rs928169 G C 1064.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.494;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9997;MQ=55.69;MQ0=0;MQRankSum=0.622;QD=14.01;ReadPosRankSum=2.471;SB=-622.48;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,46:76:99:1094,0,771:0.605:99 chr13 52507720 rs1051332 C T 2411.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.826;DP=222;Dels=0.00;FS=3.827;HRun=0;HaplotypeScore=1.7882;MQ=45.19;MQ0=0;MQRankSum=0.714;QD=10.86;ReadPosRankSum=-0.331;SB=-1451.49;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:112,110:222:99:2441,0,2323:0.495:99 chr13 52508979 rs73202048 C T 70.25 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.061;DP=15;Dels=0.00;FS=2.158;HRun=2;HaplotypeScore=0.0000;MQ=54.82;MQ0=0;MQRankSum=1.653;QD=4.68;ReadPosRankSum=-0.674;SB=-57.22;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Synonymous_K1230K,Synonymous_K1437K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,5:15:99:100,0,233:0.333:70 chr13 52515354 rs1801249 A G 1445.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.292;DP=180;Dels=0.00;FS=1.195;HRun=5;HaplotypeScore=10.4024;MQ=45.99;MQ0=0;MQRankSum=1.971;QD=8.03;ReadPosRankSum=-0.677;SB=-1157.30;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Missense_V933A,Missense_V1140A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:102,77:180:99:1476,0,2207:0.430:99 chr13 52523808 rs732774 C T 2977.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.333;DP=275;Dels=0.00;FS=0.926;HRun=1;HaplotypeScore=3.6821;MQ=49.97;MQ0=0;MQRankSum=0.237;QD=10.83;ReadPosRankSum=1.988;SB=-1968.14;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Silent,Missense_R952K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:140,135:275:99:3008,0,2929:0.491:99 chr13 52524488 rs1061472 T C 1635.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.690;DP=187;Dels=0.00;FS=1.132;HRun=2;HaplotypeScore=5.6775;MQ=45.22;MQ0=0;MQRankSum=-2.766;QD=8.75;ReadPosRankSum=0.104;SB=-1356.10;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Missense_K670R,Missense_K832R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:101,86:187:99:1666,0,1990:0.460:99 chr13 52544805 rs1801244 C G 1131.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.180;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=43.76;MQ0=0;MQRankSum=-0.333;QD=12.04;ReadPosRankSum=1.334;SB=-928.71;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Missense_V456L,Missense_V456L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,54:94:99:1161,0,773:0.574:99 chr13 52548140 rs1801243 A C 461.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.191;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=44.33;MQ0=0;MQRankSum=1.473;QD=7.83;ReadPosRankSum=0.924;SB=-423.70;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Missense_S406A,Missense_S406A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,26:59:99:492,0,659:0.441:99 chr13 52585548 rs2277448 G T 3179.91 PASS AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=45.17;MQ0=0;QD=24.46;SB=-2387.96;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,130:130:99:3213,226,0:1.000:99 chr13 52585591 . T TCGGCG 1759.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.423;DP=97;FS=4.375;HRun=0;HaplotypeScore=222.8379;MQ=48.28;MQ0=0;MQRankSum=0.980;QD=18.14;ReadPosRankSum=-1.099;SB=-659.99;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,28:97:99:1798,0,4304:0.289:99 chr13 77574983 rs1800209 A G 1815.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.041;DP=117;Dels=0.00;FS=2.397;HRun=0;HaplotypeScore=0.9998;MQ=56.19;MQ0=0;MQRankSum=0.856;QD=15.52;ReadPosRankSum=-1.490;SB=-1050.10;TI=NM_006493;GI=CLN5;FC=Missense_K368R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,63:117:99:1845,0,1437:0.538:99 chr13 77575396 rs700363 G A 819.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.359;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9889;MQ=47.65;MQ0=0;MQRankSum=0.368;QD=9.53;ReadPosRankSum=3.320;SB=-570.15;TI=NM_006493;GI=CLN5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,40:86:99:850,0,1048:0.465:99 chr13 78470350 rs4885491 A G 4988.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.087;DP=383;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.5977;MQ=55.68;MQ0=0;MQRankSum=3.780;QD=13.02;ReadPosRankSum=-1.788;SB=-3028.33;TI=NM_003991,NM_001122659,NM_000115;GI=EDNRB,EDNRB,EDNRB;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:197,186:383:99:4988,0,5154:0.486:99 chr13 78475313 rs5351 T C 5113.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.519;DP=455;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9301;MQ=53.50;MQ0=0;MQRankSum=2.956;QD=11.24;ReadPosRankSum=-0.423;SB=-3289.71;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 0/1:238,217:455:99:5114,0,5558:0.477:99 chr13 78477674 rs5348 A G 2632.88 PASS AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=46.89;MQ0=0;QD=23.30;SB=-2130.46;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 1/1:0,113:113:99:2666,184,0:1.000:99 chr13 78492856 rs12716722 T C 974.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.339;DP=82;Dels=0.00;FS=0.844;HRun=0;HaplotypeScore=0.9983;MQ=54.48;MQ0=0;MQRankSum=1.435;QD=11.89;ReadPosRankSum=-0.334;SB=-784.41;TI=NM_003991,NM_001122659,NM_000115;GI=EDNRB,EDNRB,EDNRB;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,48:82:99:1005,0,690:0.585:99 chr13 101182535 rs41281122 C T 3627.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.792;DP=325;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9148;MQ=47.54;MQ0=0;MQRankSum=-0.548;QD=11.16;ReadPosRankSum=1.304;SB=-2269.30;TI=NM_001127692,NM_000282,NM_001178004,NM_033110,NM_001195087;GI=PCCA,PCCA,PCCA,A2LD1,A2LD1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:162,163:325:99:3628,0,3657:0.502:99 chr13 103498198 rs751402 A G 4041.94 PASS AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=46.58;MQ0=0;QD=23.92;SB=-3343.36;TI=NM_000123;GI=ERCC5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,169:169:99:4042,277,0:1.000:99 chr13 103498375 rs2296147 T C 384.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.306;DP=34;Dels=0.00;FS=5.287;HRun=2;HaplotypeScore=3.5489;MQ=53.65;MQ0=0;MQRankSum=0.702;QD=11.32;ReadPosRankSum=-0.270;SB=-155.07;TI=NM_000123;GI=ERCC5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,16:34:99:415,0,397:0.485:99 chr13 103504517 rs1047768 T C 17440.80 PASS AC=2;AF=1.00;AN=2;DP=657;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2038;MQ=50.85;MQ0=0;QD=26.55;SB=-12600.31;TI=NM_000123;GI=ERCC5;FC=Synonymous_H46H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,657:657:99:17441,1228,0:1.000:99 chr13 103527849 rs9514066 G C 11129.88 PASS AC=2;AF=1.00;AN=2;DP=436;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3638;MQ=50.82;MQ0=0;QD=25.53;SB=-8362.85;TI=NM_000123;GI=ERCC5;FC=Missense_G1053R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,436:436:99:11130,774,0:1.000:99 chr13 103527930 rs9514067 G C 6662.78 PASS AC=2;AF=1.00;AN=2;DP=225;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6818;MQ=55.67;MQ0=0;QD=29.61;SB=-4079.50;TI=NM_000123;GI=ERCC5;FC=Missense_G1080R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,223:225:99:6663,479,0:1.000:99 chr13 103528337 rs873601 G A 3478.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.943;DP=286;Dels=0.00;FS=1.510;HRun=0;HaplotypeScore=13.4382;MQ=53.27;MQ0=0;MQRankSum=-0.238;QD=12.16;ReadPosRankSum=-0.511;SB=-1860.24;TI=NM_000123;GI=ERCC5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:140,146:286:99:3478,0,3246:0.510:99 chr14 24718515 rs2229463 G A 1315.44 PASS AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.44;MQ0=0;QD=23.92;SB=-994.81;TI=NM_000359;GI=TGM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,55:55:93.31:1348,93,0:1.000:93 chr14 50088957 rs78391102 C G 270.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.437;DP=81;Dels=0.00;FS=1.022;HRun=0;HaplotypeScore=0.8941;MQ=45.06;MQ0=0;MQRankSum=-0.074;QD=3.34;ReadPosRankSum=2.846;SB=-229.55;TI=NM_002408;GI=MGAT2;FC=Missense_T324S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,18:81:99:300,0,1433:0.222:99 chr14 77741349 . C CT 1844.99 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.370;DP=219;FS=2.328;HRun=11;HaplotypeScore=205.0118;MQ=54.72;MQ0=0;MQRankSum=3.701;QD=8.42;ReadPosRankSum=2.429;SB=-833.31;TI=NM_013382;GI=POMT2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:109,90:219:99:1884,0,2314:0.452:99 chr14 77741745 rs11159254 C T 442.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.587;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48.46;MQ0=0;MQRankSum=-1.265;QD=10.78;ReadPosRankSum=0.170;SB=-332.31;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,20:41:99:472,0,472:0.488:99 chr14 77741752 rs11547794 G A 481.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.364;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48.86;MQ0=0;MQRankSum=-0.847;QD=10.47;ReadPosRankSum=-0.011;SB=-370.51;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,22:46:99:511,0,516:0.478:99 chr14 77741977 rs12894594 C T 178.72 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.43;MQ0=0;QD=25.53;SB=-121.06;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:15.05:211,15,0:1.000:15 chr14 77742218 rs4141640 C T 570.31 PASS AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.35;MQ0=0;QD=22.81;SB=-363.90;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,25:25:42.14:603,42,0:1.000:42 chr14 77742382 rs45561437 G A 1634.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.070;DP=171;Dels=0.00;FS=2.670;HRun=0;HaplotypeScore=4.7874;MQ=46.45;MQ0=0;MQRankSum=-2.254;QD=9.56;ReadPosRankSum=-0.641;SB=-1348.14;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,84:171:99:1665,0,1890:0.491:99 chr14 77742582 rs7158951 C T 834.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.553;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.87;MQ0=0;MQRankSum=0.033;QD=10.31;ReadPosRankSum=-0.940;SB=-629.10;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,41:81:99:865,0,824:0.506:99 chr14 77742661 rs11624564 C T 190.29 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.648;DP=15;Dels=0.00;FS=2.363;HRun=0;HaplotypeScore=0.0000;MQ=57.47;MQ0=0;MQRankSum=0.530;QD=12.69;ReadPosRankSum=0.412;SB=-133.29;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,9:15:99:220,0,169:0.600:99 chr14 77742929 rs7159558 C T 156.46 LowGQ;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=8;Dels=0.00;FS=3.332;HRun=1;HaplotypeScore=0.0000;MQ=49.84;MQ0=0;MQRankSum=0.572;QD=19.56;ReadPosRankSum=-1.067;SB=-33.98;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,6:8:26.71:186,0,27:0.750:26 chr14 77745193 rs3209079 A C 2931.45 PASS AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=47.10;MQ0=0;QD=24.03;SB=-2225.41;TI=NM_013382;GI=POMT2;FC=Synonymous_L637L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,122:122:99:2964,205,0:1.000:99 chr14 77751925 rs2270419 C T 8235.93 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.711;DP=331;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.2228;MQ=52.68;MQ0=0;MQRankSum=0.706;QD=24.88;ReadPosRankSum=0.644;SB=-6183.90;TI=NM_013382;GI=POMT2;FC=Synonymous_R461R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,330:331:99:8236,575,0:0.997:99 chr14 77893276 rs4223 G A 808.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.701;DP=94;Dels=0.00;FS=0.778;HRun=0;HaplotypeScore=0.8941;MQ=44.83;MQ0=0;MQRankSum=2.234;QD=8.60;ReadPosRankSum=0.145;SB=-648.18;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 0/1:53,41:94:99:838,0,1153:0.436:99 chr14 77893431 rs8009177 A G 679.87 PASS AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.94;MQ0=0;QD=29.56;SB=-442.34;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 1/1:0,23:23:51.17:713,51,0:1.000:51 chr14 88399488 rs17198 A C 2349.91 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.659;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48.29;MQ0=0;MQRankSum=-0.565;QD=24.74;ReadPosRankSum=0.237;SB=-1470.42;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,94:95:99:2383,169,0:0.989:99 chr14 88399801 rs1042042 C T 3487.86 PASS AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5764;MQ=55.09;MQ0=0;QD=28.13;SB=-2157.53;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,124:124:99:3488,247,0:1.000:99 chr14 88399887 . TATC T 9162.92 PASS AC=2;AF=1.00;AN=2;DP=145;FS=0.000;HRun=0;HaplotypeScore=348.5544;MQ=52.24;MQ0=0;QD=63.19;SB=-3841.54;TI=NM_000153;GI=GALC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,145:145:99:9163,436,0:1.000:99 chr14 88400087 rs370559 C T 1650.08 PASS AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.41;MQ0=0;QD=25.00;SB=-1203.85;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,66:66:99:1683,117,0:1.000:99 chr14 88400449 rs413750 T C 4128.86 PASS AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=51.67;MQ0=0;QD=26.81;SB=-2998.08;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,154:154:99:4129,292,0:1.000:99 chr14 88400486 rs1042029 A G 2691.37 PASS AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=57.63;MQ0=0;QD=28.04;SB=-1818.37;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,96:96:99:2724,196,0:1.000:99 chr14 88401213 rs421262 T C 3734.91 PASS AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7589;MQ=52.46;MQ0=0;QD=25.58;SB=-2498.32;TI=NM_000153;GI=GALC;FC=Missense_T641A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,145:146:99:3735,262,0:1.000:99 chr14 88407875 rs421466 T A 2246.43 PASS AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9981;MQ=47.78;MQ0=0;QD=25.53;SB=-1331.30;TI=NM_000153;GI=GALC;FC=Synonymous_V566V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,88:88:99:2279,163,0:1.000:99 chr14 88411947 rs367327 T C 2698.94 PASS AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48.07;MQ0=0;QD=25.46;SB=-1744.62;TI=NM_000153;GI=GALC;FC=Synonymous_T540T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,104:106:99:2732,193,0:1.000:99 chr14 88431898 rs12888666 C T 2501.90 PASS AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.79;MQ0=0;QD=26.62;SB=-1478.56;TI=NM_000153,NM_001037525;GI=GALC,GALC;FC=Synonymous_Q328Q,Synonymous_Q328Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,94:94:99:2535,181,0:1.000:99 chr14 92347680 rs2430347 A G 2314.71 PASS AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.07;MQ0=0;QD=23.86;SB=-1778.88;TI=NM_006329;GI=FBLN5;FC=Synonymous_I315I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,97:97:99:2348,163,0:1.000:99 chr15 34522679 rs4530104 C T 2237.33 PASS AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.17;MQ0=0;QD=24.06;SB=-1770.77;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 1/1:0,93:93:99:2270,157,0:1.000:99 chr15 34522985 rs4238571 C G 2044.84 PASS AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.49;MQ0=0;QD=27.63;SB=-1113.50;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 1/1:0,74:74:99:2078,150,0:1.000:99 chr15 34523565 . GA G 102.09 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.041;DP=23;FS=0.000;HRun=14;HaplotypeScore=40.5048;MQ=51.07;MQ0=0;MQRankSum=0.776;QD=4.44;ReadPosRankSum=0.612;SB=-62.22;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 0/1:13,7:22:99:141,0,170:0.350:99 chr15 34524590 rs6495640 A G 295.05 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.16;MQ0=0;QD=29.51;SB=-115.88;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 1/1:0,10:10:24.08:328,24,0:1.000:24 chr15 34524995 rs4779660 G T 2635.56 PASS AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8835;MQ=47.79;MQ0=0;QD=24.18;SB=-2124.82;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 1/1:0,109:109:99:2669,187,0:1.000:99 chr15 34525035 rs4780233 T C 3707.60 PASS AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=44.76;MQ0=0;QD=24.72;SB=-2795.15;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 1/1:0,150:150:99:3708,262,0:1.000:99 chr15 34525170 . T G 51.56 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.965;DP=31;Dels=0.00;FS=56.784;HRun=5;HaplotypeScore=13.2215;MQ=45.79;MQ0=0;MQRankSum=-1.838;QD=1.66;ReadPosRankSum=-1.204;SB=0.17;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 0/1:21,10:31:81.55:82,0,613:0.323:51 chr15 34528948 rs4577050 G A 3476.80 PASS AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=44.28;MQ0=0;QD=23.33;SB=-2733.63;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Synonymous_L950L,Synonymous_L1001L,Synonymous_L986L,Synonymous_L942L,Synonymous_L992L,Synonymous_L942L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,149:149:99:3477,241,0:1.000:99 chr15 45900418 rs7181436 G A 3040.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.192;DP=346;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.4702;MQ=50.54;MQ0=0;MQRankSum=2.898;QD=8.79;ReadPosRankSum=0.067;SB=-2423.04;TI=NM_012388;GI=PLDN;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:195,151:346:99:3070,0,4166:0.436:99 chr15 48580713 rs1552311 T C 15474.42 PASS AC=2;AF=1.00;AN=2;DP=644;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9640;MQ=50.83;MQ0=0;QD=24.03;SB=-11968.78;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Unknown_958,Unknown_958;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,642:644:99:15474,1072,0:1.000:99 chr15 48595192 rs8025278 G T 3197.96 PASS AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.18;MQ0=0;QD=27.81;SB=-1985.84;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,115:115:99:3231,229,0:1.000:99 chr15 48595366 rs12902028 A G 2802.51 PASS AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=55.48;MQ0=0;QD=29.81;SB=-1106.77;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,94:94:99:2836,205,0:1.000:99 chr15 48596166 rs12438818 A T 3779.68 PASS AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.6548;MQ=52.66;MQ0=0;QD=25.71;SB=-2631.24;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,147:147:99:3780,265,0:1.000:99 chr15 52601220 rs1045699 G A 649.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.948;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=37.72;MQ0=0;MQRankSum=-0.243;QD=7.82;ReadPosRankSum=0.792;SB=-580.94;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,37:83:99:679,0,937:0.446:99 chr15 52601750 rs2414136 A G 970.79 PASS AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=40.99;MQ0=0;QD=22.58;SB=-791.58;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,43:43:69.23:1004,69,0:1.000:69 chr15 52603363 rs7176482 G A 2934.17 PASS AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9330;MQ=41.23;MQ0=0;QD=22.92;SB=-2360.82;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,128:128:99:2967,202,0:1.000:99 chr15 52604136 rs11282676 A ATTTGTCATT 1446.56 PASS AC=2;AF=1.00;AN=2;DP=22;FS=0.000;HRun=0;HaplotypeScore=6.8268;MQ=32.37;MQ0=3;QD=65.75;SB=-587.40;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:10,9:19:39.13:1489,39,0:0.474:39 chr15 52667552 rs2414145 G A 4700.41 PASS AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=48.77;MQ0=0;QD=23.50;SB=-3722.70;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Synonymous_I842I,Synonymous_I842I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,200:200:99:4700,325,0:1.000:99 chr15 52689526 rs2924130 T C 5103.11 PASS AC=2;AF=1.00;AN=2;DP=227;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9995;MQ=44.26;MQ0=0;QD=22.48;SB=-4244.20;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Synonymous_T397T,Synonymous_T397T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,225:227:99:5103,346,0:1.000:99 chr15 52689631 rs1724577 T G 1590.85 PASS AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=43.05;MQ0=0;QD=23.39;SB=-1333.06;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Missense_E362D,Missense_E362D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,68:68:99:1624,111,0:1.000:99 chr15 55496313 rs12907749 T G 2430.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.765;DP=232;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.6764;MQ=51.08;MQ0=0;MQRankSum=-0.329;QD=10.48;ReadPosRankSum=-0.448;SB=-1811.84;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 0/1:117,115:232:99:2460,0,2567:0.496:99 chr15 68499661 rs8142 G A 274.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.790;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7446;MQ=52.57;MQ0=0;MQRankSum=0.849;QD=11.45;ReadPosRankSum=1.259;SB=-184.34;TI=NM_017882;GI=CLN6;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,14:24:99:305,0,218:0.583:99 chr15 72635829 rs11629508 A C 4459.24 PASS AC=2;AF=1.00;AN=2;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.79;MQ0=0;QD=22.75;SB=-3921.69;TI=NM_000520;GI=HEXA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,196:196:99:4459,301,0:1.000:99 chr15 72635903 rs3087652 C T 1605.68 PASS AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9832;MQ=49.20;MQ0=0;QD=22.94;SB=-1342.87;TI=NM_000520;GI=HEXA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,70:70:99:1639,111,0:1.000:99 chr15 72637795 rs4777502 T C 5355.41 PASS AC=2;AF=1.00;AN=2;DP=229;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=46.61;MQ0=0;QD=23.39;SB=-4361.56;TI=NM_000520;GI=HEXA;FC=Synonymous_E506E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,229:229:99:5355,364,0:1.000:99 chr15 72638892 rs1800431 T C 4936.83 PASS AC=2;AF=1.00;AN=2;DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=44.52;MQ0=0;QD=23.62;SB=-4037.47;TI=NM_000520;GI=HEXA;FC=Missense_I436V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,209:209:99:4937,340,0:1.000:99 chr15 74472199 rs10910 C T 589.66 PASS AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=50.23;MQ0=0;QD=20.33;SB=-521.26;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 1/1:0,29:29:42.14:623,42,0:1.000:42 chr15 74487036 rs351224 T A 4841.10 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.316;DP=208;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7880;MQ=46.39;MQ0=0;MQRankSum=-1.166;QD=23.27;ReadPosRankSum=-0.050;SB=-4022.40;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 1/1:1,207:208:99:4841,296,0:0.995:99 chr15 74658315 rs79534403 G GA 8860.15 PASS AC=2;AF=1.00;AN=2;DP=220;FS=0.000;HRun=1;HaplotypeScore=90.0347;MQ=59.17;MQ0=0;QD=40.27;SB=-4142.08;TI=NM_001099773,NM_000781;GI=CYP11A1,CYP11A1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:6,210:220:99:8860,632,0:0.972:99 chr15 75189930 rs1130741 A G 1428.52 PASS AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=40.46;MQ0=0;QD=22.67;SB=-1241.42;TI=NM_002435;GI=MPI;FC=Synonymous_V377V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,63:63:99:1462,99,0:1.000:99 chr15 76508684 rs1803550 T A 15980.31 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.586;DP=592;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=8.4248;MQ=55.30;MQ0=0;MQRankSum=-0.267;QD=26.99;ReadPosRankSum=-0.164;SB=-11363.76;TI=NM_001127716,NM_000126;GI=ETFA,ETFA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,590:592:99:15980,1087,0:0.997:99 chr15 89859932 rs3087377 A AC 991.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.695;DP=81;FS=0.000;HRun=2;HaplotypeScore=37.1321;MQ=52.84;MQ0=0;MQRankSum=3.589;QD=12.24;ReadPosRankSum=1.080;SB=-402.24;TI=NM_001113378,NM_018193,NM_001126131,NM_002693;GI=FANCI,FANCI,POLG,POLG;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,31:81:99:1031,0,1333:0.383:99 chr16 1495006 rs8767 C G 970.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DP=126;Dels=0.00;FS=2.348;HRun=0;HaplotypeScore=3.6821;MQ=46.92;MQ0=0;MQRankSum=-0.876;QD=7.71;ReadPosRankSum=-0.490;SB=-665.29;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:77,49:126:99:1001,0,1594:0.389:99 chr16 1495243 rs710900 T G 1951.33 PASS AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=42.33;MQ0=0;QD=23.23;SB=-1631.07;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,84:84:99:1984,135,0:1.000:99 chr16 1495300 rs941439 G A 245.02 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.702;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.59;MQ0=0;MQRankSum=2.107;QD=13.61;ReadPosRankSum=0.890;SB=-165.54;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,12:18:99:275,0,104:0.667:99 chr16 1495745 rs55801438 G A 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=-73.45;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:5:9.03:130,9,0:1.000:9 chr16 1495746 rs1050834 G A 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=-80.02;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:5:9.03:130,9,0:1.000:9 chr16 1495897 rs2294542 G A 282.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.891;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7768;MQ=46.48;MQ0=0;MQRankSum=-1.808;QD=9.13;ReadPosRankSum=2.473;SB=-243.38;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,16:31:99:313,0,268:0.533:99 chr16 1503879 rs2235579 T A 1924.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.520;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5753;MQ=44.86;MQ0=0;MQRankSum=-1.408;QD=9.58;ReadPosRankSum=0.637;SB=-1546.41;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Synonymous_A390A,Synonymous_A366A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:103,98:201:99:1955,0,2109:0.488:99 chr16 1506130 rs41286695 C T 244.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.373;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=45.41;MQ0=0;MQRankSum=0.315;QD=5.56;ReadPosRankSum=2.003;SB=-181.93;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Synonymous_A300A,Synonymous_A276A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,14:44:99:275,0,669:0.318:99 chr16 1524850 rs3751884 A G 80.23 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.163;DP=16;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;MQRankSum=0.380;QD=5.01;ReadPosRankSum=2.874;SB=-91.19;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Synonymous_P42P,Synonymous_P42P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,6:16:99:110,0,200:0.375:80 chr16 2331430 rs149532 A G 3949.34 PASS AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=44.46;MQ0=0;QD=23.23;SB=-3205.38;TI=NM_001089;GI=ABCA3;FC=Synonymous_S1372S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,170:170:99:3949,271,0:1.000:99 chr16 2345709 rs45592239 G A 2425.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.036;DP=220;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=42.21;MQ0=0;MQRankSum=-2.216;QD=11.02;ReadPosRankSum=2.274;SB=-2028.60;TI=NM_001089;GI=ABCA3;FC=Missense_P766S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,121:220:99:2455,0,1894:0.550:99 chr16 3292085 rs450021 C A 1758.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.948;DP=194;Dels=0.00;FS=1.128;HRun=0;HaplotypeScore=4.4430;MQ=46.23;MQ0=0;MQRankSum=-1.198;QD=9.06;ReadPosRankSum=-0.603;SB=-1368.11;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:105,89:194:99:1788,0,2238:0.459:99 chr16 3292351 . A G 68.27 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=22.76;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:9.02:100,9,0:1.000:9 chr16 3292353 . C T 68.27 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=22.76;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:9.02:100,9,0:1.000:9 chr16 3292355 . T C 21.86 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=29.00;MQ0=0;MQRankSum=-0.358;QD=4.37;ReadPosRankSum=0.358;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:5:51.83:52,0,85:0.400:21 chr16 3292356 . T C,G 92.15 SB;LowDP AC=1,1;AF=0.50,0.50;AN=2;DP=5;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=18.43;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:0,2,3:5:51.83:152,91,85,61,0,52:1.000:51 chr16 3292514 . T A 10.22 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.639;DP=14;Dels=0.00;FS=2.963;HRun=5;HaplotypeScore=0.0000;MQ=39.68;MQ0=0;MQRankSum=-2.282;QD=0.73;ReadPosRankSum=-2.282;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,2:14:39.78:40,0,265:0.143:10 chr16 3292516 . C A 10.22 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.004;DP=14;Dels=0.00;FS=2.963;HRun=2;HaplotypeScore=0.0000;MQ=39.68;MQ0=0;MQRankSum=-2.100;QD=0.73;ReadPosRankSum=-2.282;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,2:14:39.78:40,0,270:0.143:10 chr16 3292519 . G A 10.23 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.187;DP=14;Dels=0.00;FS=2.963;HRun=4;HaplotypeScore=0.0000;MQ=39.68;MQ0=0;MQRankSum=-2.100;QD=0.73;ReadPosRankSum=-2.282;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,2:14:39.79:40,0,265:0.143:10 chr16 3292524 . C T 10.24 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.187;DP=14;Dels=0.00;FS=3.123;HRun=0;HaplotypeScore=0.0000;MQ=39.68;MQ0=0;MQRankSum=-2.100;QD=0.73;ReadPosRankSum=-2.282;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,2:14:39.81:40,0,253:0.143:10 chr16 3292666 rs11466052;rs67530870 T C 944.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.125;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=161.4758;MQ=44.37;MQ0=0;MQRankSum=-1.343;QD=10.27;ReadPosRankSum=1.023;SB=-565.37;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,45:92:99:975,0,986:0.489:99 chr16 3292667 rs11466051 G C 1020.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.726;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=160.4785;MQ=44.37;MQ0=0;MQRankSum=-1.812;QD=11.09;ReadPosRankSum=1.008;SB=-563.66;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,45:92:99:1050,0,918:0.489:99 chr16 3292672 . CAAA C,CAA 1071.18 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=2.153;DP=93;FS=1.079;HaplotypeScore=469.6788;MQ=44.73;MQ0=0;MQRankSum=-1.710;QD=11.52;ReadPosRankSum=-0.795;SB=-341.72;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:26,25,0:93:47.57:1149,48,901,513,0,660:0.490:47 chr16 3292874 rs2741918 C T 377.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.015;DP=38;Dels=0.00;FS=4.887;HRun=0;HaplotypeScore=0.0000;MQ=53.26;MQ0=0;MQRankSum=-1.827;QD=9.93;ReadPosRankSum=0.570;SB=-298.72;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,20:38:99:407,0,440:0.526:99 chr16 3292896 rs2741919 C T 621.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.890;DP=51;Dels=0.00;FS=1.117;HRun=0;HaplotypeScore=0.8941;MQ=49.18;MQ0=0;MQRankSum=-2.191;QD=12.18;ReadPosRankSum=0.373;SB=-485.38;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,30:51:99:651,0,464:0.588:99 chr16 3293888 rs1231122 C T 2187.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.245;DP=231;Dels=0.00;FS=0.478;HRun=0;HaplotypeScore=3.7876;MQ=42.24;MQ0=0;MQRankSum=-3.181;QD=9.47;ReadPosRankSum=-3.186;SB=-1808.99;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_P588P,Missense_G436R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:119,112:231:99:2218,0,2324:0.485:99 chr16 3297073 rs224206 A G 1893.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.345;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4143;MQ=43.54;MQ0=0;MQRankSum=-3.571;QD=9.52;ReadPosRankSum=2.136;SB=-1607.27;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_D510D,Synonymous_D299D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:101,98:199:99:1924,0,2032:0.492:99 chr16 3297175 rs224207 T C 1376.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.304;DP=162;Dels=0.00;FS=0.581;HRun=1;HaplotypeScore=0.8941;MQ=43.76;MQ0=0;MQRankSum=-0.501;QD=8.50;ReadPosRankSum=1.552;SB=-1168.10;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_Q476Q,Synonymous_Q265Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:90,72:162:99:1407,0,1863:0.444:99 chr16 3297181 rs224208 C T 1415.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.049;DP=167;Dels=0.00;FS=0.568;HRun=1;HaplotypeScore=0.0000;MQ=43.42;MQ0=0;MQRankSum=-0.166;QD=8.47;ReadPosRankSum=1.368;SB=-1200.62;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_E474E,Synonymous_E263E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:93,74:167:99:1445,0,1932:0.443:99 chr16 3299749 rs224213 G A 901.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.994;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6546;MQ=45.52;MQ0=0;MQRankSum=-1.470;QD=8.67;ReadPosRankSum=1.627;SB=-779.02;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_R314R,Synonymous_R103R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,48:104:99:932,0,1193:0.462:99 chr16 3304626 rs3743930 C G 925.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.967;DP=80;Dels=0.00;FS=0.855;HRun=3;HaplotypeScore=0.8941;MQ=46.50;MQ0=0;MQRankSum=-1.625;QD=11.57;ReadPosRankSum=-2.352;SB=-746.75;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Missense_E148Q,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,48:80:99:956,0,626:0.600:99 chr16 5128817 rs17849848 G A 695.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.520;DP=67;Dels=0.00;FS=0.924;HRun=1;HaplotypeScore=0.0000;MQ=47.97;MQ0=0;MQRankSum=1.311;QD=10.38;ReadPosRankSum=0.433;SB=-506.46;TI=NM_019109;GI=ALG1;FC=Missense_S267N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,34:67:99:725,0,648:0.507:99 chr16 5134898 . C CTA 768.81 LowDP AC=2;AF=1.00;AN=2;DP=17;FS=0.000;HRun=0;HaplotypeScore=5.6167;MQ=56.86;MQ0=0;QD=45.22;SB=-354.74;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,16:17:48.16:811,48,0:1.000:48 chr16 5135956 rs4786593 G T 2127.36 PASS AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=43.73;MQ0=0;QD=22.87;SB=-1617.07;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,93:93:99:2160,150,0:1.000:99 chr16 5135979 rs4238853 T C 1102.73 PASS AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=44.51;MQ0=0;QD=22.97;SB=-880.48;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,48:48:78.26:1136,78,0:1.000:78 chr16 5136085 rs4786594 C A 146.59 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.16;MQ0=0;QD=18.32;SB=-161.26;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,8:8:12.04:179,12,0:1.000:12 chr16 5136375 . C A 31.04 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.453;DP=51;Dels=0.00;FS=1.966;HRun=0;HaplotypeScore=7.8785;MQ=46.99;MQ0=0;MQRankSum=-0.365;QD=0.61;ReadPosRankSum=-0.716;SB=-1.15;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,6:51:61.03:61,0,1031:0.118:31 chr16 5136405 . C G 59.86 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.393;DP=206;Dels=0.00;FS=2.247;HRun=1;HaplotypeScore=7.3813;MQ=42.34;MQ0=0;MQRankSum=-2.440;QD=0.29;ReadPosRankSum=-1.790;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 0/1:188,18:206:89.85:90,0,3858:0.087:59 chr16 5136474 . T C 75.74 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.808;DP=287;Dels=0.00;FS=4.301;HRun=0;HaplotypeScore=10.9403;MQ=43.17;MQ0=0;MQRankSum=-3.827;QD=0.26;ReadPosRankSum=-1.706;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 0/1:262,25:287:99:106,0,5490:0.087:75 chr16 5136900 rs4786595 C A 210.07 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.18;MQ0=0;QD=26.26;SB=-153.03;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,8:8:18.06:243,18,0:1.000:18 chr16 5136901 rs4786596 C G 177.73 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.18;MQ0=0;QD=22.22;SB=-105.31;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:8:15.05:210,15,0:1.000:15 chr16 5137285 rs4786597 A G 1531.46 PASS AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=47.70;MQ0=0;QD=23.93;SB=-1098.26;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,64:64:99:1564,108,0:1.000:99 chr16 8941818 rs2075827 A C 1630.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.232;DP=185;Dels=0.00;FS=1.140;HRun=1;HaplotypeScore=6.7829;MQ=43.46;MQ0=0;MQRankSum=0.832;QD=8.81;ReadPosRankSum=1.931;SB=-1292.08;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:102,83:185:99:1661,0,2108:0.449:99 chr16 8941857 rs2072688 G A 1929.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.685;DP=232;Dels=0.00;FS=2.987;HRun=2;HaplotypeScore=0.8941;MQ=42.54;MQ0=0;MQRankSum=-0.421;QD=8.32;ReadPosRankSum=3.177;SB=-1263.71;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:138,94:232:99:1959,0,2822:0.405:99 chr16 8941934 rs2075828 C A 1160.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.293;DP=78;Dels=0.00;FS=3.902;HRun=0;HaplotypeScore=20.5880;MQ=46.77;MQ0=0;MQRankSum=0.416;QD=14.87;ReadPosRankSum=0.044;SB=-535.40;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,55:78:99:1190,0,558:0.705:99 chr16 8942050 rs72766379 C G 656.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.795;DP=73;Dels=0.00;FS=1.975;HRun=0;HaplotypeScore=3.5489;MQ=43.96;MQ0=0;MQRankSum=1.228;QD=9.00;ReadPosRankSum=-0.984;SB=-445.73;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,32:73:99:687,0,797:0.438:99 chr16 8942473 rs2437722 G C 2635.98 PASS AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.6540;MQ=49.64;MQ0=0;QD=23.54;SB=-1956.49;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,110:112:99:2669,184,0:1.000:99 chr16 8942679 rs1056898 A G 484.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.642;DP=38;Dels=0.00;FS=1.289;HRun=0;HaplotypeScore=1.8938;MQ=49.25;MQ0=0;MQRankSum=-0.029;QD=12.75;ReadPosRankSum=1.938;SB=-337.20;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,21:38:99:514,0,389:0.553:99 chr16 8943042 rs72766381 C T 1717.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.217;DP=194;Dels=0.00;FS=0.533;HRun=0;HaplotypeScore=5.4564;MQ=47.72;MQ0=0;MQRankSum=-1.296;QD=8.85;ReadPosRankSum=1.214;SB=-1363.49;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:106,88:194:99:1748,0,2106:0.454:99 chr16 14029033 rs1800067 G A 286.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.126;DP=34;Dels=0.00;FS=1.440;HRun=2;HaplotypeScore=0.9159;MQ=53.65;MQ0=0;MQRankSum=1.736;QD=8.41;ReadPosRankSum=1.666;SB=-122.82;TI=NM_005236;GI=ERCC4;FC=Missense_R415Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,13:34:99:316,0,480:0.382:99 chr16 14041958 rs1799801 T C 5499.04 PASS AC=2;AF=1.00;AN=2;DP=235;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=2.7474;MQ=45.18;MQ0=0;QD=23.40;SB=-4339.17;TI=NM_005236;GI=ERCC4;FC=Synonymous_S835S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,233:233:99:5499,376,0:1.000:99 chr16 14042688 rs3743538 G T 3678.67 PASS AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5215;MQ=44.69;MQ0=0;QD=23.14;SB=-2887.79;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,159:159:99:3679,253,0:1.000:99 chr16 14042930 rs2276464 G C 4596.23 PASS AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7774;MQ=44.65;MQ0=0;QD=24.84;SB=-3604.39;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,185:185:99:4596,319,0:1.000:99 chr16 14043014 rs2276465 G A 1603.97 PASS AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.33;MQ0=0;QD=28.64;SB=-752.13;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:56:99:1637,117,0:1.000:99 chr16 14043175 rs2276466 C G 3670.51 PASS AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7879;MQ=49.46;MQ0=0;QD=25.31;SB=-2495.69;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,145:145:99:3671,259,0:1.000:99 chr16 14043260 rs72781468 A G 278.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.076;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.06;MQ0=0;MQRankSum=0.000;QD=13.91;ReadPosRankSum=-0.304;SB=-135.66;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,11:20:99:308,0,240:0.550:99 chr16 14044717 rs11075223 C A 2112.09 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.704;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.61;MQ0=0;MQRankSum=-1.351;QD=23.21;ReadPosRankSum=0.324;SB=-1683.46;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,90:91:99:2145,113,0:0.989:99 chr16 14044775 . GC G 2942.13 PASS AC=2;AF=1.00;AN=2;DP=89;FS=0.000;HRun=6;HaplotypeScore=525.2275;MQ=48.35;MQ0=0;QD=33.06;SB=-1355.85;TI=NM_005236;GI=ERCC4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,81:89:99:2984,244,0:0.942:99 chr16 14044781 rs56012340 C A 2171.79 PASS AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.52;MQ0=0;QD=26.17;SB=-1534.29;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,83:83:99:2205,157,0:1.000:99 chr16 14045236 rs4781562 G T 593.42 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=29.67;SB=-321.97;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,20:20:45.15:626,45,0:1.000:45 chr16 14045399 rs4781563 G A 1906.94 PASS AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.05;MQ0=0;QD=25.77;SB=-1170.70;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,74:74:99:1940,135,0:1.000:99 chr16 14046149 rs67426129 AT A 7680.67 PASS AC=2;AF=1.00;AN=2;DP=228;FS=0.000;HRun=8;HaplotypeScore=159.6174;MQ=51.93;MQ0=0;QD=33.69;SB=-3839.98;TI=NM_005236;GI=ERCC4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,228:228:99:7681,686,0:1.000:99 chr16 23360199 rs238547 T C 903.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.773;DP=64;Dels=0.00;FS=1.049;HRun=3;HaplotypeScore=4.8931;MQ=47.70;MQ0=0;MQRankSum=0.429;QD=14.11;ReadPosRankSum=1.702;SB=-639.68;TI=NM_000336;GI=SCNN1B;FC=Synonymous_P93P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,43:64:99:933,0,378:0.672:99 chr16 23392086 rs61759917 C T 571.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.541;DP=39;Dels=0.00;FS=1.427;HRun=0;HaplotypeScore=2.7523;MQ=38.52;MQ0=0;MQRankSum=-2.125;QD=14.65;ReadPosRankSum=1.054;SB=-276.51;TI=NM_000336;GI=SCNN1B;FC=Synonymous_D629D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,25:39:99:601,0,260:0.676:99 chr16 23399945 . CT C 234.06 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.333;DP=93;FS=5.993;HRun=18;HaplotypeScore=277.2990;MQ=49.20;MQ0=0;MQRankSum=1.019;QD=2.52;ReadPosRankSum=-0.094;SB=-90.28;TI=NM_153603;GI=COG7;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,15:92:99:273,0,550:0.203:99 chr16 28944396 rs2904880 C G 2081.68 PASS AC=2;AF=1.00;AN=2;DP=90;Dels=0.02;FS=0.000;HRun=0;HaplotypeScore=4.8650;MQ=44.04;MQ0=0;QD=23.13;SB=-1714.30;TI=NM_001770,NM_001178098;GI=CD19,CD19;FC=Missense_L174V,Missense_L174V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,88:88:99:2115,144,0:1.000:99 chr16 28944700 rs35979293 G T 527.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.392;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9995;MQ=44.53;MQ0=0;MQRankSum=-1.319;QD=7.64;ReadPosRankSum=-1.428;SB=-464.13;TI=NM_001770,NM_001178098;GI=CD19,CD19;FC=Synonymous_P235P,Synonymous_P235P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,29:69:99:557,0,814:0.420:99 chr16 53634295 rs1946155 C T 789.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.468;DP=98;Dels=0.00;FS=5.372;HRun=0;HaplotypeScore=2.7880;MQ=47.63;MQ0=0;MQRankSum=-1.654;QD=8.06;ReadPosRankSum=-1.094;SB=-377.41;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,36:98:99:820,0,1344:0.367:99 chr16 53635251 rs3760008 A C 581.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.581;DP=39;Dels=0.00;FS=1.322;HRun=1;HaplotypeScore=0.0000;MQ=53.98;MQ0=0;MQRankSum=-1.487;QD=14.92;ReadPosRankSum=1.147;SB=-233.11;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,22:39:99:612,0,482:0.564:99 chr16 53635933 rs4784319 A T 631.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.281;DP=59;Dels=0.00;FS=3.614;HRun=0;HaplotypeScore=0.8941;MQ=56.35;MQ0=0;MQRankSum=0.175;QD=10.70;ReadPosRankSum=-0.387;SB=-330.34;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,28:59:99:661,0,660:0.475:99 chr16 53636000 rs4784320 G A 582.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.710;DP=62;Dels=0.00;FS=2.137;HRun=2;HaplotypeScore=0.0000;MQ=50.56;MQ0=0;MQRankSum=0.213;QD=9.39;ReadPosRankSum=-0.369;SB=-398.77;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Synonymous_D1312D,Synonymous_D1232D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,27:62:99:612,0,775:0.435:99 chr16 53682949 rs2302677 C T 1961.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.503;DP=210;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7876;MQ=49.58;MQ0=0;MQRankSum=1.761;QD=9.34;ReadPosRankSum=1.640;SB=-1640.46;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Missense_R744Q,Missense_R744Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:112,98:210:99:1992,0,2352:0.467:99 chr16 57495026 rs223870 T C 98.15 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=19.63;SB=-81.30;TI=NM_020312;GI=COQ9;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:5:9.03:130,9,0:1.000:9 chr16 66544113 . CAAAA C,CAAA 818.17 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-0.729;DP=66;FS=1.163;HaplotypeScore=181.9269;MQ=43.53;MQ0=0;MQRankSum=0.677;QD=12.40;ReadPosRankSum=0.146;SB=-337.54;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 1/2:25,8,0:66:99:896,135,835,488,0,508:0.242:99 chr16 69373414 rs11542583 T C 3086.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.646;DP=327;Dels=0.00;FS=0.402;HRun=1;HaplotypeScore=10.2040;MQ=49.71;MQ0=0;MQRankSum=-3.113;QD=9.44;ReadPosRankSum=0.221;SB=-2378.42;TI=NM_032382;GI=COG8;FC=Synonymous_T14T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:172,155:327:99:3116,0,3524:0.474:99 chr16 81129822 rs8052579;rs11551818 G A 33.42 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DP=7;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=24.86;MQ0=2;MQRankSum=1.231;QD=4.77;ReadPosRankSum=0.358;SB=-33.97;TI=NM_004483,NR_033249,NR_033247;GI=GCSH,GCSH,LOC100329108;FC=Missense_S21L,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,3:7:35.40:63,0,35:0.429:33 chr16 88494947 rs11648572 T C 1523.01 PASS AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.6643;MQ=46.62;MQ0=0;QD=24.97;SB=-1064.27;TI=NM_001127464;GI=ZNF469;FC=Missense_S357P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,61:61:99:1556,108,0:1.000:99 chr16 88494976 rs11640794 A C 3613.43 PASS AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=43.40;MQ0=0;QD=23.16;SB=-2968.69;TI=NM_001127464;GI=ZNF469;FC=Missense_R366S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,156:156:99:3613,247,0:1.000:99 chr16 88495367 rs28723506 G A 364.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.336;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5979;MQ=45.42;MQ0=0;MQRankSum=-2.050;QD=8.11;ReadPosRankSum=-1.309;SB=-247.46;TI=NM_001127464;GI=ZNF469;FC=Missense_G497R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,18:45:99:395,0,580:0.400:99 chr16 88495407 rs7199961 G C 702.02 PASS AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=52.31;MQ0=0;QD=22.65;SB=-554.14;TI=NM_001127464;GI=ZNF469;FC=Missense_G510A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,31:31:51.17:735,51,0:1.000:51 chr16 88495654 rs12927001 A G 81.17 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=16.23;SB=-80.66;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P592P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,5:5:9.01:113,9,0:1.000:9 chr16 88496008 rs12918876 T C 1148.78 PASS AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=42.71;MQ0=0;QD=23.44;SB=-898.56;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P710P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,49:49:81.27:1182,81,0:1.000:81 chr16 88497031 rs9924504 T C 1498.40 PASS AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8947;MQ=48.51;MQ0=0;QD=22.04;SB=-1202.81;TI=NM_001127464;GI=ZNF469;FC=Synonymous_I1051I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,68:68:99:1531,105,0:1.000:99 chr16 88497400 rs9938800 G A 500.03 PASS AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.68;MQ0=0;QD=21.74;SB=-428.95;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P1146P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,23:23:36.12:533,36,0:1.000:36 chr16 88497446 rs7197071 A G 580.58 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=41.03;MQ0=0;QD=22.33;SB=-466.76;TI=NM_001127464;GI=ZNF469;FC=Missense_K1162E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,26:26:42.14:614,42,0:1.000:42 chr16 88498221 rs4782300 C T 608.73 PASS AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.17;MQ0=0;QD=24.35;SB=-465.14;TI=NM_001127464;GI=ZNF469;FC=Missense_P1420L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,25:25:45.15:642,45,0:1.000:45 chr16 88498297 rs12445417 T G 1062.93 PASS AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45.79;MQ0=0;QD=23.11;SB=-822.70;TI=NM_001127464;GI=ZNF469;FC=Synonymous_S1445S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,46:46:75.25:1096,75,0:1.000:75 chr16 88499539 rs9931465 C G 535.29 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=23.27;SB=-423.91;TI=NM_001127464;GI=ZNF469;FC=Synonymous_T1859T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,23:23:39.13:568,39,0:1.000:39 chr16 88502208 rs3812954 A T 435.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.671;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9989;MQ=44.57;MQ0=0;MQRankSum=1.713;QD=9.26;ReadPosRankSum=0.904;SB=-403.36;TI=NM_001127464;GI=ZNF469;FC=Missense_D2749V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,24:47:99:465,0,453:0.511:99 chr16 88502482 rs3812953 C T 3213.02 PASS AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8857;MQ=43.89;MQ0=0;QD=22.31;SB=-2766.38;TI=NM_001127464;GI=ZNF469;FC=Synonymous_R2840R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,144:144:99:3246,220,0:1.000:99 chr16 88502505 rs1983014 A G 3821.21 PASS AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=42.92;MQ0=0;QD=23.16;SB=-3211.55;TI=NM_001127464;GI=ZNF469;FC=Missense_H2848R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,165:165:99:3821,259,0:1.000:99 chr16 88504868 rs904783 A G 716.34 PASS AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=44.47;MQ0=0;QD=21.71;SB=-599.90;TI=NM_001127464;GI=ZNF469;FC=Missense_T3636A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,32:33:51.17:749,51,0:1.000:51 chr16 88505635 rs4782301 A G 688.86 PASS AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.22;MQ0=0;QD=31.31;SB=-258.02;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P3891P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,22:22:54.17:722,54,0:1.000:54 chr16 88505734 rs4782362 C T 3747.42 PASS AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=44.64;MQ0=0;QD=22.31;SB=-3276.96;TI=NM_001127464;GI=ZNF469;FC=Synonymous_S3924S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,168:168:99:3747,253,0:1.000:99 chr16 88506358 rs3859020 T G 764.87 PASS AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.08;MQ0=0;QD=24.67;SB=-603.30;TI=NM_001127464;GI=ZNF469;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,31:31:57.18:798,57,0:1.000:57 chr16 88506528 rs3894713 G A 182.86 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.84;MQ0=0;QD=22.86;SB=-159.63;TI=NM_001127464;GI=ZNF469;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,8:8:15.05:216,15,0:1.000:15 chr16 88506599 rs67897677 AT A 159.70 R8;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DP=12;FS=0.000;HRun=11;HaplotypeScore=31.8475;MQ=49.84;MQ0=0;MQRankSum=0.289;QD=13.31;ReadPosRankSum=0.929;SB=-99.37;TI=NM_001127464;GI=ZNF469;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,8:12:76.11:199,0,76:0.667:76 chr16 88506741 rs3848234 A G 58.30 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.84;MQ0=0;QD=14.57;SB=-80.66;TI=NM_001127464;GI=ZNF469;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,4:4:6.02:90,6,0:1.000:6 chr17 3397702 rs12948217 C T 4011.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.384;DP=409;Dels=0.00;FS=1.161;HRun=0;HaplotypeScore=13.0030;MQ=54.03;MQ0=0;MQRankSum=0.793;QD=9.81;ReadPosRankSum=-0.916;SB=-3022.93;TI=NM_001128085,NM_000049;GI=ASPA,ASPA;FC=Synonymous_Y231Y,Synonymous_Y231Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:215,192:407:99:4012,0,4452:0.472:99 chr17 3402521 rs1552830 C A 6187.40 PASS AC=2;AF=1.00;AN=2;DP=253;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=48.77;MQ0=0;QD=24.46;SB=-4550.72;TI=NM_001128085,NM_000049;GI=ASPA,ASPA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,253:253:99:6187,427,0:1.000:99 chr17 3561396 rs161400 C T 9659.60 PASS AC=2;AF=1.00;AN=2;DP=420;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3643;MQ=45.89;MQ0=0;QD=23.00;SB=-7961.24;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Missense_T260I,Missense_T260I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,418:420:99:9660,659,0:1.000:99 chr17 3563963 rs2873624 C G 578.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.775;DP=97;Dels=0.00;FS=0.820;HRun=0;HaplotypeScore=4.6817;MQ=44.35;MQ0=0;MQRankSum=0.855;QD=5.96;ReadPosRankSum=3.044;SB=-379.26;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Missense_P380A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,31:97:99:609,0,1383:0.320:99 chr17 3564400 rs222754 T A 678.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.075;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=41.56;MQ0=0;MQRankSum=-1.300;QD=12.12;ReadPosRankSum=-0.310;SB=-572.89;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,34:56:99:709,0,405:0.607:99 chr17 3564401 rs224562 T G 1247.23 PASS AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=41.96;MQ0=0;QD=21.88;SB=-1058.15;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:57:87.29:1280,87,0:1.000:87 chr17 3565103 rs161398 A G 525.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.066;DP=46;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7882;MQ=49.24;MQ0=0;MQRankSum=0.000;QD=11.43;ReadPosRankSum=1.610;SB=-379.42;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,25:46:99:556,0,407:0.543:99 chr17 3565605 . CAA C,CA 1470.31 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-0.087;DP=92;FS=0.000;HaplotypeScore=68.8637;MQ=43.87;MQ0=0;MQRankSum=-4.064;QD=15.98;ReadPosRankSum=-1.246;SB=-756.12;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:12,15,2:92:99:1548,1051,1338,163,0,143:0.586:99 chr17 3565790 rs72835828 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_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr17 3565969 rs161397 T C 634.42 PASS AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.68;MQ0=0;QD=21.88;SB=-545.50;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,29:29:45.15:667,45,0:1.000:45 chr17 3566045 rs71379528 T TC 1443.45 PASS AC=2;AF=1.00;AN=2;DP=35;FS=0.000;HRun=1;HaplotypeScore=44.6980;MQ=58.26;MQ0=0;QD=41.24;SB=-679.09;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,35:35:99:1485,105,0:1.000:99 chr17 3566232 rs7093 C T 261.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.553;DP=26;Dels=0.00;FS=2.038;HRun=0;HaplotypeScore=0.9894;MQ=56.13;MQ0=0;MQRankSum=0.290;QD=10.06;ReadPosRankSum=1.239;SB=-68.63;TI=NM_004937,NM_001031681,NM_014604;GI=CTNS,CTNS,TAX1BP3;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,10:26:99:292,0,501:0.385:99 chr17 7123240 . T TGGGCGTGCAGGACGC 1666.55 PASS AC=2;AF=1.00;AN=2;DP=23;FS=0.000;HRun=0;HaplotypeScore=7.1208;MQ=45.32;MQ0=0;QD=72.46;SB=-726.56;TI=NM_001365,NM_000018,NM_001033859;GI=DLG4,ACADVL,ACADVL;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:16,7:23:33.11:1709,33,0:0.304:33 chr17 7491177 rs4227 G T 1420.93 PASS AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45.43;MQ0=0;QD=23.29;SB=-1134.32;TI=NM_004870,NR_024603;GI=MPDU1,MPDU1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,61:61:99:1454,99,0:1.000:99 chr17 10584116 rs2040570 C T 1726.70 PASS AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8499;MQ=52.16;MQ0=0;QD=26.16;SB=-1204.96;TI=NM_004589;GI=SCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,66:66:99:1760,123,0:1.000:99 chr17 13972811 rs6502330 G A 1211.67 PASS AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.48;MQ0=0;QD=22.44;SB=-1039.45;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,54:54:84.28:1245,84,0:1.000:84 chr17 14005439 rs2159132 G A 1081.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.602;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7840;MQ=45.57;MQ0=0;MQRankSum=1.703;QD=12.43;ReadPosRankSum=0.038;SB=-716.16;TI=NM_001303;GI=COX10;FC=Synonymous_L168L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,48:87:99:1111,0,763:0.552:99 chr17 14095309 rs2230354 A G 47.51 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.368;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.38;MQ0=1;MQRankSum=0.421;QD=5.28;ReadPosRankSum=2.017;SB=-68.62;TI=NM_001303;GI=COX10;FC=Synonymous_P233P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,5:9:77.50:77,0,77:0.556:47 chr17 14110668 . GTT G 1618.02 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.291;DP=141;FS=1.521;HRun=14;HaplotypeScore=200.8557;MQ=52.08;MQ0=0;MQRankSum=0.015;QD=11.48;ReadPosRankSum=-0.190;SB=-812.34;TI=NM_001303;GI=COX10;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,53:141:99:1657,0,1384:0.469:99 chr17 14110852 rs11078233 T C 727.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.166;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7190;MQ=39.44;MQ0=0;MQRankSum=-1.055;QD=8.98;ReadPosRankSum=2.304;SB=-557.42;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,38:81:99:758,0,880:0.469:99 chr17 14110901 rs11078234 A G 189.41 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-2.000;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=39.70;MQ0=0;MQRankSum=-1.021;QD=9.97;ReadPosRankSum=-0.449;SB=-131.50;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,10:19:99:219,0,187:0.526:99 chr17 14111176 rs7214082 C A 304.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.239;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.61;MQ0=0;MQRankSum=-1.809;QD=13.82;ReadPosRankSum=-0.512;SB=-211.86;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,14:22:99:334,0,207:0.636:99 chr17 14111287 rs1802618 T C 241.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.744;DP=40;Dels=0.00;FS=1.307;HRun=1;HaplotypeScore=0.0000;MQ=43.04;MQ0=0;MQRankSum=0.128;QD=6.04;ReadPosRankSum=-2.396;SB=-166.66;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,14:40:99:272,0,552:0.350:99 chr17 14111606 rs1050216 T C 777.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.055;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54.68;MQ0=0;MQRankSum=1.841;QD=12.33;ReadPosRankSum=-0.724;SB=-431.54;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,34:63:99:807,0,616:0.540:99 chr17 14111915 rs1050223 C T 1059.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.136;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4714;MQ=45.16;MQ0=0;MQRankSum=-2.618;QD=6.92;ReadPosRankSum=1.732;SB=-887.89;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:93,60:153:99:1089,0,1951:0.392:99 chr17 15133114 rs11654383 A G 753.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.962;DP=110;Dels=0.00;FS=0.748;HRun=0;HaplotypeScore=1.7882;MQ=47.77;MQ0=0;MQRankSum=-0.619;QD=6.85;ReadPosRankSum=-0.062;SB=-563.79;TI=NM_153321,NM_153322,NM_000304;GI=PMP22,PMP22,PMP22;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,39:110:99:783,0,1428:0.355:99 chr17 15133657 rs7538 A G 680.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.755;DP=68;Dels=0.00;FS=4.697;HRun=0;HaplotypeScore=1.8899;MQ=51.78;MQ0=0;MQRankSum=0.086;QD=10.00;ReadPosRankSum=0.319;SB=-501.55;TI=NM_153321,NM_153322,NM_000304;GI=PMP22,PMP22,PMP22;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,33:68:99:710,0,723:0.485:99 chr17 15133705 rs71699667 CAG C 547.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-3.071;DP=26;FS=0.000;HRun=0;HaplotypeScore=49.8567;MQ=51.34;MQ0=0;MQRankSum=-0.521;QD=21.06;ReadPosRankSum=-1.622;SB=-270.86;TI=NM_153321,NM_153322,NM_000304;GI=PMP22,PMP22,PMP22;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,13:26:99:587,0,455:0.542:99 chr17 15134175 rs13422 T G 2011.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.906;DP=157;Dels=0.00;FS=0.608;HRun=1;HaplotypeScore=0.0000;MQ=45.15;MQ0=0;MQRankSum=-1.059;QD=12.81;ReadPosRankSum=-0.059;SB=-1377.40;TI=NM_153321,NM_153322,NM_000304;GI=PMP22,PMP22,PMP22;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,93:157:99:2042,0,1272:0.592:99 chr17 19578873 rs7216 A T 2335.36 PASS AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.44;MQ0=0;QD=24.84;SB=-1600.00;TI=NM_001031806,NM_000382;GI=ALDH3A2,ALDH3A2;FC=Silent,Synonymous_A482A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,94:94:99:2368,166,0:1.000:99 chr17 19580494 rs7215 A G 344.56 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.44;MQ0=0;QD=28.71;SB=-119.97;TI=NM_001031806,NM_000382;GI=ALDH3A2,ALDH3A2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,12:12:27.09:378,27,0:1.000:27 chr17 19580760 rs16420 TAC T 1360.04 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.733;DP=35;FS=3.912;HRun=0;HaplotypeScore=15.8091;MQ=62.00;MQ0=0;MQRankSum=-0.108;QD=38.86;ReadPosRankSum=0.325;SB=-542.33;TI=NM_001031806,NM_000382;GI=ALDH3A2,ALDH3A2;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,31:35:46.88:1402,47,0:0.939:46 chr17 26861877 rs61749867 C T 323.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.598;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=41.88;MQ0=0;MQRankSum=1.041;QD=11.16;ReadPosRankSum=2.236;SB=-261.81;TI=NM_003593;GI=FOXN1;FC=Missense_P430S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,17:29:99:354,0,223:0.586:99 chr17 33901917 rs35050283 TTAAG T 2524.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.175;DP=88;FS=0.798;HRun=0;HaplotypeScore=34.6986;MQ=54.88;MQ0=0;MQRankSum=-0.183;QD=28.69;ReadPosRankSum=-2.505;SB=-1186.58;TI=NM_000286;GI=PEX12;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,39:88:99:2563,0,3215:0.448:99 chr17 33902284 rs1046321 T C 1965.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.027;DP=169;Dels=0.00;FS=0.000;HRun=7;HaplotypeScore=3.8240;MQ=48.78;MQ0=0;MQRankSum=-0.380;QD=11.63;ReadPosRankSum=-0.383;SB=-1300.14;TI=NM_000286;GI=PEX12;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,91:169:99:1996,0,1717:0.538:99 chr17 33905468 rs321600 A G 364.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.197;DP=29;Dels=0.00;FS=7.367;HRun=0;HaplotypeScore=1.7882;MQ=54.63;MQ0=0;MQRankSum=-0.417;QD=12.56;ReadPosRankSum=-1.338;SB=-181.05;TI=NM_000286;GI=PEX12;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,16:29:99:394,0,421:0.552:99 chr17 40689455 rs659497 T C 2088.10 PASS AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=40.34;MQ0=0;QD=22.45;SB=-1733.22;TI=NM_000263;GI=NAGLU;FC=Synonymous_S141S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,93:93:99:2121,144,0:1.000:99 chr17 40696233 rs86312 C G 6496.29 PASS AC=2;AF=1.00;AN=2;DP=268;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7815;MQ=47.80;MQ0=0;QD=24.24;SB=-4847.07;TI=NM_000263;GI=NAGLU;FC=Missense_R737G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,268:268:99:6496,445,0:1.000:99 chr17 42085972 rs186636 C T 113.75 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.369;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53.98;MQ0=0;MQRankSum=0.555;QD=8.75;ReadPosRankSum=0.660;SB=-68.62;TI=NM_153006;GI=NAGS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,6:13:99:144,0,180:0.462:99 chr17 42086180 rs640631 C T 1565.70 PASS AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=43.80;MQ0=0;QD=22.69;SB=-1314.64;TI=NM_153006;GI=NAGS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,69:69:99:1599,108,0:1.000:99 chr17 42148205 rs228758 C T 121.59 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.256;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1607;MQ=47.97;MQ0=0;MQRankSum=-0.978;QD=9.35;ReadPosRankSum=-0.437;SB=-0.01;TI=NR_028581,NM_138387,NR_028582;GI=G6PC3,G6PC3,G6PC3;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,5:13:99:152,0,212:0.385:99 chr17 46020698 rs11079804 C T 2087.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.409;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=44.19;MQ0=0;MQRankSum=-3.170;QD=9.58;ReadPosRankSum=0.175;SB=-1630.42;TI=NM_018129;GI=PNPO;FC=Synonymous_S55S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:114,104:218:99:2117,0,2266:0.477:99 chr17 46024460 . G A 15.23 LowVariantFreq;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=50.90;MQ0=0;MQRankSum=-1.883;QD=0.95;ReadPosRankSum=-2.691;SB=-15.93;TI=NM_018129;GI=PNPO;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,3:16:45.10:45,0,346:0.188:15 chr17 46024660 rs7220104 A C 363.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.279;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.15;MQ0=0;MQRankSum=-1.567;QD=11.02;ReadPosRankSum=-0.450;SB=-207.14;TI=NM_018129;GI=PNPO;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,16:33:99:394,0,402:0.485:99 chr17 46024791 . C CTT 315.25 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.320;DP=58;FS=1.338;HRun=14;HaplotypeScore=169.5057;MQ=45.06;MQ0=0;MQRankSum=0.515;QD=5.44;ReadPosRankSum=-0.178;SB=-157.58;TI=NM_018129;GI=PNPO;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,14:58:99:354,0,657:0.424:99 chr17 46024900 . C CT 108.24 R8;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.352;DP=28;FS=0.000;HRun=12;HaplotypeScore=126.0358;MQ=44.94;MQ0=0;MQRankSum=-1.615;QD=3.87;ReadPosRankSum=0.363;SB=-1.19;TI=NM_018129;GI=PNPO;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,8:27:99:147,0,228:0.320:99 chr17 46026156 rs1986693 A G 1830.20 PASS AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.95;MQ0=0;QD=22.88;SB=-1598.18;TI=NM_018129;GI=PNPO;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,80:80:99:1863,126,0:1.000:99 chr17 48264254 . A C 27.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=3;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=41.96;MQ0=0;MQRankSum=-0.736;QD=9.29;ReadPosRankSum=-0.736;SB=-0.01;TI=NM_000088;GI=COL1A1;FC=Synonymous_G1187G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:31.62:58,0,32:0.667:27 chr17 48264258 . G A 27.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8865;MQ=39.12;MQ0=0;MQRankSum=-1.026;QD=6.96;ReadPosRankSum=0.000;SB=-0.01;TI=NM_000088;GI=COL1A1;FC=Missense_P1186L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:31.62:58,0,32:0.500:27 chr17 48264259 . G T 27.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8865;MQ=39.12;MQ0=0;MQRankSum=-1.026;QD=6.96;ReadPosRankSum=0.000;SB=-0.01;TI=NM_000088;GI=COL1A1;FC=Missense_P1186T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:31.62:58,0,32:0.500:27 chr17 48264263 . T G 24.85 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DP=5;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7806;MQ=44.10;MQ0=0;MQRankSum=-1.026;QD=4.97;ReadPosRankSum=0.000;SB=-0.01;TI=NM_000088;GI=COL1A1;FC=Synonymous_G1184G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:5:54.83:55,0,66:0.500:24 chr17 48265495 rs1800215 T C 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_000088;GI=COL1A1;FC=Missense_T1075A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chr17 48268223 rs2734272 A G 3304.89 PASS AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9969;MQ=41.31;MQ0=0;QD=22.95;SB=-2795.64;TI=NM_000088;GI=COL1A1;FC=Synonymous_T766T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,144:144:99:3305,226,0:1.000:99 chr17 57076104 rs28475409 T A 2223.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.181;DP=196;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8936;MQ=43.50;MQ0=0;MQRankSum=-0.895;QD=11.34;ReadPosRankSum=0.081;SB=-1792.19;TI=NM_001005207,NM_015294;GI=TRIM37,TRIM37;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,109:196:99:2253,0,1658:0.556:99 chr17 57184162 rs7503190 A C 9207.52 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.562;DP=387;Dels=0.00;FS=3.255;HRun=1;HaplotypeScore=2.7865;MQ=47.00;MQ0=0;MQRankSum=1.678;QD=23.79;ReadPosRankSum=1.714;SB=-7122.85;TI=NM_001005207,NM_015294;GI=TRIM37,TRIM37;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,386:387:99:9208,608,0:0.997:99 chr17 71189182 rs3764359 A G 1506.27 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.209;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.8830;MQ=46.22;MQ0=1;MQRankSum=0.388;QD=21.83;ReadPosRankSum=2.150;SB=-1038.56;TI=NM_018714;GI=COG1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,66:69:45.19:1539,45,0:0.957:45 chr17 71192663 rs1052706 G A 1627.08 PASS AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=46.88;MQ0=0;QD=23.24;SB=-1304.59;TI=NM_018714;GI=COG1;FC=Synonymous_Q111Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,70:70:99:1660,114,0:1.000:99 chr17 71192873 rs11544800 A G 1517.87 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7848;MQ=42.32;MQ0=0;QD=22.65;SB=-1266.38;TI=NM_018714;GI=COG1;FC=Synonymous_A181A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:67:99:1551,105,0:1.000:99 chr17 71196809 rs1026128 A G 3882.77 PASS AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.80;MQ0=0;QD=23.82;SB=-3178.16;TI=NM_018714;GI=COG1;FC=Missense_N392S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,163:163:99:3883,265,0:1.000:99 chr17 71197439 rs1551036 C T 260.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.169;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.18;MQ0=0;MQRankSum=1.006;QD=10.43;ReadPosRankSum=-0.789;SB=-168.21;TI=NM_018714;GI=COG1;FC=Synonymous_S491S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,12:25:99:291,0,264:0.480:99 chr17 71197748 rs1037256 G A 1101.94 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.470;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=38.67;MQ0=0;MQRankSum=-2.357;QD=20.79;ReadPosRankSum=-1.704;SB=-878.12;TI=NM_018714;GI=COG1;FC=Synonymous_E594E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,51:53:39.51:1135,40,0:0.962:39 chr17 72913072 rs690566 T C 392.03 LowDP AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.50;MQ0=0;QD=21.78;SB=-316.91;TI=NM_173477;GI=USH1G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,18:18:30.10:425,30,0:1.000:30 chr17 72913253 . C 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_173477;GI=USH1G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr17 73512653 rs7216673 G T 47.51 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=2.017;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;MQRankSum=0.000;QD=5.94;ReadPosRankSum=2.017;SB=-67.98;TI=NM_207346;GI=TSEN54;FC=Missense_E4D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,4:8:77.50:77,0,77:0.500:47 chr17 73512884 rs8079373 T G 1289.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.405;DP=134;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8912;MQ=46.66;MQ0=0;MQRankSum=-2.552;QD=9.63;ReadPosRankSum=-1.115;SB=-1064.75;TI=NM_207346;GI=TSEN54;FC=Missense_H38Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,66:134:99:1320,0,1314:0.493:99 chr17 73513289 rs6501818 C G 1521.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.697;DP=171;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7776;MQ=44.18;MQ0=0;MQRankSum=0.067;QD=8.90;ReadPosRankSum=0.252;SB=-1159.43;TI=NM_207346;GI=TSEN54;FC=Synonymous_R111R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,76:171:99:1552,0,1919:0.447:99 chr17 73518125 . G T 25.50 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.370;DP=46;Dels=0.00;FS=9.303;HRun=0;HaplotypeScore=0.8941;MQ=41.95;MQ0=0;MQRankSum=-3.294;QD=0.55;ReadPosRankSum=-0.019;SB=-0.01;TI=NM_207346;GI=TSEN54;FC=Missense_E321D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,4:46:55.48:55,0,882:0.087:25 chr17 73518128 . G C 51.78 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.320;DP=26;Dels=0.00;FS=9.048;HRun=1;HaplotypeScore=0.8941;MQ=45.39;MQ0=0;MQRankSum=-3.162;QD=1.99;ReadPosRankSum=-2.878;SB=-0.01;TI=NM_207346;GI=TSEN54;FC=Synonymous_L322L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,4:26:81.77:82,0,465:0.154:51 chr17 73518131 . C T 55.59 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.852;DP=25;Dels=0.00;FS=9.048;HRun=1;HaplotypeScore=0.8941;MQ=44.70;MQ0=0;MQRankSum=-3.150;QD=2.22;ReadPosRankSum=-2.261;SB=-0.01;TI=NM_207346;GI=TSEN54;FC=Synonymous_L323L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,4:25:85.58:86,0,474:0.160:55 chr17 73518141 . G A 58.60 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.405;DP=22;Dels=0.00;FS=5.959;HRun=0;HaplotypeScore=0.9867;MQ=44.53;MQ0=0;MQRankSum=-3.107;QD=2.66;ReadPosRankSum=-1.745;SB=-0.01;TI=NM_207346;GI=TSEN54;FC=Missense_V327M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,4:22:88.59:89,0,425:0.182:58 chr17 73518284 rs6501820 G C 142.46 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.10;MQ0=0;QD=20.35;SB=-108.07;TI=NM_207346;GI=TSEN54;FC=Synonymous_R374R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:12.04:175,12,0:1.000:12 chr17 73519413 rs8064529 C T 1510.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.161;DP=156;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=7.2521;MQ=44.82;MQ0=0;MQRankSum=0.353;QD=9.68;ReadPosRankSum=0.211;SB=-1171.87;TI=NM_207346;GI=TSEN54;FC=Missense_A437V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,76:156:99:1541,0,1601:0.487:99 chr17 73750859 rs8669 C G 1263.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.097;DP=116;Dels=0.00;FS=1.497;HRun=0;HaplotypeScore=8.3133;MQ=40.24;MQ0=0;MQRankSum=1.280;QD=10.89;ReadPosRankSum=-0.341;SB=-987.39;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 0/1:52,64:116:99:1293,0,1003:0.552:99 chr17 73753503 rs871443 T C 457.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.154;DP=30;Dels=0.00;FS=3.427;HRun=1;HaplotypeScore=2.7829;MQ=53.44;MQ0=0;MQRankSum=-0.990;QD=15.26;ReadPosRankSum=-2.354;SB=-350.05;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 0/1:10,20:30:99:488,0,259:0.667:99 chr17 73753661 rs9367 C T 562.63 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.135;DP=59;Dels=0.00;FS=10.832;HRun=0;HaplotypeScore=10.1908;MQ=41.04;MQ0=0;MQRankSum=0.087;QD=9.54;ReadPosRankSum=-0.261;SB=-1.64;TI=NM_000213,NM_001005731,NM_001005619;GI=ITGB4,ITGB4,ITGB4;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,21:59:99:593,0,1033:0.356:99 chr17 73838641 . C T 15.92 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.061;DP=11;Dels=0.00;FS=3.090;HRun=1;HaplotypeScore=0.0000;MQ=43.38;MQ0=0;MQRankSum=-2.239;QD=1.45;ReadPosRankSum=-2.239;SB=-0.01;TI=NM_199242;GI=UNC13D;FC=Missense_G148R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,2:11:45.80:46,0,199:0.182:15 chr17 73949540 rs1135640 G C 1592.17 PASS AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.30;MQ0=0;QD=23.07;SB=-1305.55;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 1/1:0,69:69:99:1625,111,0:1.000:99 chr17 78078709 rs1800300 T C 548.99 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=21.12;SB=-500.97;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 1/1:0,26:26:39.13:582,39,0:1.000:39 chr17 78079597 rs1042393 A G 2390.21 PASS AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8818;MQ=42.03;MQ0=0;QD=23.67;SB=-1889.73;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 1/1:0,101:101:99:2423,166,0:1.000:99 chr17 78079643 rs1800301 C T 375.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.051;DP=51;Dels=0.00;FS=1.098;HRun=0;HaplotypeScore=3.7878;MQ=45.80;MQ0=0;MQRankSum=-0.356;QD=7.37;ReadPosRankSum=1.414;SB=-275.02;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Synonymous_S214S,Synonymous_S214S,Synonymous_S214S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,20:51:99:406,0,579:0.408:99 chr17 78079669 rs1042395 G A 1559.57 PASS AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.35;MQ0=0;QD=22.28;SB=-1327.51;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 1/1:0,70:70:99:1593,108,0:1.000:99 chr17 78082504 rs1800304 G A 1896.14 PASS AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=42.56;MQ0=0;QD=22.57;SB=-1630.99;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 1/1:0,84:84:99:1929,132,0:1.000:99 chr17 78084769 rs1042396 G A 1909.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.323;DP=166;Dels=0.00;FS=1.245;HRun=0;HaplotypeScore=6.6538;MQ=44.43;MQ0=0;MQRankSum=-0.542;QD=11.51;ReadPosRankSum=-0.262;SB=-1539.98;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Synonymous_R527R,Synonymous_R527R,Synonymous_R527R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,95:166:99:1940,0,1340:0.576:99 chr17 78087109 rs1800310 A G 964.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.259;DP=99;Dels=0.00;FS=1.632;HRun=0;HaplotypeScore=5.5543;MQ=40.70;MQ0=0;MQRankSum=-0.916;QD=9.74;ReadPosRankSum=1.624;SB=-654.61;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 0/1:53,46:99:99:994,0,1099:0.465:99 chr17 78091405 rs1126690 G A 4098.47 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.851;DP=169;Dels=0.00;FS=3.445;HRun=1;HaplotypeScore=1.8650;MQ=42.56;MQ0=0;MQRankSum=1.712;QD=24.25;ReadPosRankSum=1.138;SB=-2956.24;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 1/1:1,168:169:99:4098,259,0:0.994:99 chr17 78092063 rs1042397 G A 1223.72 PASS AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9992;MQ=43.08;MQ0=0;QD=22.25;SB=-1004.93;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 1/1:0,53:55:87.29:1257,87,0:1.000:87 chr17 78093353 rs8132 C T 300.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.916;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6766;MQ=48.31;MQ0=0;MQRankSum=0.199;QD=8.11;ReadPosRankSum=-0.169;SB=-238.57;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,16:37:99:330,0,423:0.432:99 chr17 78093549 rs7567 G T 766.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.513;DP=58;Dels=0.00;FS=2.599;HRun=1;HaplotypeScore=2.8661;MQ=52.22;MQ0=0;MQRankSum=0.591;QD=13.21;ReadPosRankSum=0.156;SB=-185.15;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,29:58:99:796,0,731:0.500:99 chr17 78183322 . A G 15.85 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.682;DP=178;Dels=0.00;FS=21.425;HRun=1;HaplotypeScore=1.7882;MQ=43.58;MQ0=0;MQRankSum=-5.520;QD=0.09;ReadPosRankSum=-3.547;SB=-0.01;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:166,12:178:45.73:46,0,3797:0.067:15 chr17 78183323 . C T 34.41 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.145;DP=179;Dels=0.00;FS=21.379;HRun=0;HaplotypeScore=1.7882;MQ=43.46;MQ0=0;MQRankSum=-5.448;QD=0.19;ReadPosRankSum=-3.585;SB=-0.01;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:167,12:179:64.40:64,0,3820:0.067:34 chr17 78183328 . T C 25.41 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.208;DP=191;Dels=0.00;FS=24.678;HRun=2;HaplotypeScore=3.7549;MQ=43.95;MQ0=0;MQRankSum=-5.284;QD=0.13;ReadPosRankSum=-3.121;SB=-0.01;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:179,12:191:55.39:55,0,3923:0.063:25 chr17 78183330 . C G 21.60 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.077;DP=193;Dels=0.00;FS=25.128;HRun=0;HaplotypeScore=5.7515;MQ=44.15;MQ0=0;MQRankSum=-5.435;QD=0.11;ReadPosRankSum=-2.943;SB=-0.01;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:181,12:193:51.56:52,0,3969:0.062:21 chr17 78183396 rs1046832 A G 2367.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.269;DP=269;Dels=0.00;FS=1.565;HRun=0;HaplotypeScore=26.8058;MQ=44.53;MQ0=2;MQRankSum=0.229;QD=8.80;ReadPosRankSum=1.984;SB=-1680.64;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:150,119:269:99:2398,0,2881:0.442:99 chr17 78183403 rs709677 G C 2954.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.409;DP=287;Dels=0.00;FS=1.502;HRun=1;HaplotypeScore=23.8734;MQ=44.90;MQ0=0;MQRankSum=-1.467;QD=10.30;ReadPosRankSum=0.143;SB=-1818.16;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:137,150:287:99:2985,0,2712:0.523:99 chr17 78183411 rs709678 T C 3099.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.247;DP=289;Dels=0.00;FS=2.052;HRun=0;HaplotypeScore=13.8466;MQ=45.51;MQ0=1;MQRankSum=-2.610;QD=10.72;ReadPosRankSum=0.303;SB=-1924.31;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:137,152:289:99:3129,0,2753:0.526:99 chr17 78183936 rs2071148 G A 196.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.540;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.36;MQ0=0;MQRankSum=-0.900;QD=7.56;ReadPosRankSum=-1.157;SB=-199.83;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,12:26:99:226,0,306:0.462:99 chr18 21119777 rs1140458 G A 2597.63 PASS AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45.89;MQ0=0;QD=23.19;SB=-2062.82;TI=NM_000271;GI=NPC1;FC=Synonymous_N931N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,112:112:99:2631,181,0:1.000:99 chr18 21120444 rs1805082 T C 9070.55 PASS AC=2;AF=1.00;AN=2;DP=325;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=31.3530;MQ=46.92;MQ0=0;QD=27.91;SB=-4368.35;TI=NM_000271;GI=NPC1;FC=Missense_I858V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,318:325:99:9071,677,0:1.000:99 chr18 21124945 rs1788799 C G 2100.35 PASS AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.2393;MQ=43.40;MQ0=1;QD=28.38;SB=-1344.73;TI=NM_000271;GI=NPC1;FC=Missense_M642I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,72:74:99:2133,160,0:1.000:99 chr18 21140432 rs1805081 T C 742.18 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=23.94;SB=-582.83;TI=NM_000271;GI=NPC1;FC=Missense_H215R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,31:31:54.18:775,54,0:1.000:54 chr18 21413869 rs9962023 T C 866.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.632;DP=120;Dels=0.00;FS=2.443;HRun=1;HaplotypeScore=0.0000;MQ=44.32;MQ0=0;MQRankSum=0.634;QD=7.22;ReadPosRankSum=1.306;SB=-626.78;TI=NM_001127717,NM_198129;GI=LAMA3,LAMA3;FC=Synonymous_A967A,Synonymous_A967A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,45:120:99:896,0,1489:0.375:99 chr18 21437931 rs80114457 G C 1099.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.529;DP=136;Dels=0.00;FS=0.647;HRun=0;HaplotypeScore=7.6132;MQ=46.61;MQ0=0;MQRankSum=2.143;QD=8.09;ReadPosRankSum=0.181;SB=-849.30;TI=NM_001127717,NM_198129;GI=LAMA3,LAMA3;FC=Synonymous_G1420G,Synonymous_G1420G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,55:136:99:1130,0,1636:0.407:99 chr18 21441702 rs35565501 T C 523.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.462;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48.59;MQ0=0;MQRankSum=-0.558;QD=8.30;ReadPosRankSum=-0.503;SB=-404.38;TI=NM_001127717,NM_198129;GI=LAMA3,LAMA3;FC=Synonymous_D1505D,Synonymous_D1505D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,29:63:99:553,0,720:0.460:99 chr18 21441717 rs12965685 C T 574.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.751;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48.50;MQ0=0;MQRankSum=2.039;QD=9.74;ReadPosRankSum=1.190;SB=-472.21;TI=NM_001127717,NM_198129;GI=LAMA3,LAMA3;FC=Synonymous_P1510P,Synonymous_P1510P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,30:59:99:605,0,594:0.508:99 chr18 21481233 rs1154226 C G 2600.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.522;DP=226;Dels=0.00;FS=1.635;HRun=0;HaplotypeScore=0.8941;MQ=48.71;MQ0=0;MQRankSum=1.071;QD=11.51;ReadPosRankSum=0.908;SB=-2174.35;TI=NM_001127717,NM_198129,NM_000227,NM_001127718;GI=LAMA3,LAMA3,LAMA3,LAMA3;FC=Synonymous_A1993A,Synonymous_A2049A,Synonymous_A440A,Synonymous_A384A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:97,129:226:99:2631,0,1983:0.571:99 chr18 21511089 rs1154233 A G 6260.21 PASS AC=2;AF=1.00;AN=2;DP=249;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48.89;MQ0=0;QD=25.14;SB=-4611.73;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 1/1:0,249:249:99:6260,433,0:1.000:99 chr18 21534701 rs1051149 C A 3827.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.809;DP=352;Dels=0.00;FS=0.808;HRun=1;HaplotypeScore=5.6537;MQ=51.20;MQ0=0;MQRankSum=1.550;QD=10.87;ReadPosRankSum=2.198;SB=-2572.64;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 0/1:180,170:352:99:3828,0,4188:0.486:99 chr18 21534703 rs1051150 C T 3791.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.155;DP=344;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5478;MQ=51.48;MQ0=0;MQRankSum=1.075;QD=11.02;ReadPosRankSum=1.334;SB=-2649.61;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 0/1:173,171:344:99:3792,0,3990:0.497:99 chr18 52889712 . G GA 1411.93 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.305;DP=245;FS=0.472;HRun=13;HaplotypeScore=405.9526;MQ=55.91;MQ0=0;MQRankSum=2.464;QD=5.76;ReadPosRankSum=-0.386;SB=-650.60;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:126,84:245:99:1451,0,2414:0.400:99 chr18 52889967 rs1261085 T C 1540.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.281;DP=171;Dels=0.00;FS=1.912;HRun=0;HaplotypeScore=3.5764;MQ=48.28;MQ0=0;MQRankSum=-0.319;QD=9.01;ReadPosRankSum=-0.362;SB=-1113.90;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,76:171:99:1570,0,2149:0.444:99 chr18 52890160 rs1261084 A G 2136.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.844;DP=187;Dels=0.00;FS=3.307;HRun=2;HaplotypeScore=3.5916;MQ=50.52;MQ0=0;MQRankSum=2.474;QD=11.42;ReadPosRankSum=0.855;SB=-1368.74;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,92:187:99:2166,0,2075:0.492:99 chr18 52890912 . CTT C 528.53 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.392;DP=118;FS=1.984;HRun=15;HaplotypeScore=439.9364;MQ=39.93;MQ0=0;MQRankSum=-2.906;QD=4.48;ReadPosRankSum=-1.371;SB=-145.35;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,22:115:99:568,0,1393:0.272:99 chr18 52890946 . T TTC 1494.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.845;DP=120;FS=9.193;HRun=0;HaplotypeScore=584.1211;MQ=41.33;MQ0=1;MQRankSum=-2.049;QD=12.45;ReadPosRankSum=-1.970;SB=-687.96;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,34:118:99:1533,0,2489:0.283:99 chr18 52891283 rs35555522 GT G 1987.80 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.015;DP=220;FS=1.897;HRun=12;HaplotypeScore=300.4795;MQ=56.20;MQ0=0;MQRankSum=1.972;QD=9.04;ReadPosRankSum=-1.058;SB=-602.09;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,87:220:99:2027,0,2147:0.448:99 chr18 52891395 rs66807288 CT C 1052.94 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.138;DP=166;FS=6.052;HRun=15;HaplotypeScore=450.0820;MQ=47.79;MQ0=0;MQRankSum=1.825;QD=6.34;ReadPosRankSum=2.595;SB=-370.17;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,52:166:99:1092,0,1159:0.409:99 chr18 52893255 . T TA 7241.62 R8 AC=2;AF=1.00;AN=2;BaseQRankSum=2.157;DP=323;FS=3.883;HRun=9;HaplotypeScore=232.6891;MQ=60.00;MQ0=0;MQRankSum=2.772;QD=22.42;ReadPosRankSum=-0.116;SB=-3132.36;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:30,250:323:99:7242,458,0:0.893:99 chr18 52893504 . AT A 4814.97 R8 AC=2;AF=1.00;AN=2;BaseQRankSum=0.558;DP=181;FS=2.065;HRun=11;HaplotypeScore=137.3583;MQ=50.50;MQ0=0;MQRankSum=2.506;QD=26.60;ReadPosRankSum=2.653;SB=-2381.96;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:9,162:181:99:4815,400,0:0.947:99 chr18 52894479 . CA C 796.46 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.907;DP=300;FS=0.952;HRun=13;HaplotypeScore=545.9570;MQ=54.73;MQ0=0;MQRankSum=2.435;QD=2.65;ReadPosRankSum=-0.133;SB=-376.10;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:204,62:300:99:835,0,4357:0.233:99 chr18 52895531 rs8766 T C 3131.77 PASS AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45.70;MQ0=0;QD=23.20;SB=-2569.68;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Synonymous_S647S,Synonymous_S643S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,135:135:99:3165,217,0:1.000:99 chr18 53303101 rs611326 C G 9805.73 PASS AC=2;AF=1.00;AN=2;DP=406;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1247;MQ=50.65;MQ0=0;QD=24.15;SB=-7438.52 GT:AD:DP:GQ:PL:VF:GQX 1/1:0,406:406:99:9806,674,0:1.000:99 chr18 55314211 rs1968274 T C 5067.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.238;DP=450;Dels=0.00;FS=5.905;HRun=0;HaplotypeScore=10.3540;MQ=53.36;MQ0=0;MQRankSum=1.154;QD=11.26;ReadPosRankSum=0.268;SB=-3236.77;TI=NM_005603;GI=ATP8B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:229,221:450:99:5067,0,4913:0.491:99 chr18 55314820 rs4940950 C A 4520.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.738;DP=469;Dels=0.00;FS=1.493;HRun=0;HaplotypeScore=6.5757;MQ=50.18;MQ0=0;MQRankSum=2.915;QD=9.64;ReadPosRankSum=0.503;SB=-3200.53;TI=NM_005603;GI=ATP8B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:252,215:469:99:4521,0,5461:0.460:99 chr18 55315133 rs317822 C T 290.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.092;DP=33;Dels=0.00;FS=1.404;HRun=0;HaplotypeScore=0.0000;MQ=50.53;MQ0=0;MQRankSum=1.676;QD=8.80;ReadPosRankSum=2.303;SB=-161.32;TI=NM_005603;GI=ATP8B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,13:33:99:320,0,468:0.394:99 chr18 55315437 rs11152024 C T 626.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.337;DP=48;Dels=0.00;FS=1.110;HRun=1;HaplotypeScore=0.0000;MQ=54.63;MQ0=0;MQRankSum=1.497;QD=13.06;ReadPosRankSum=-2.424;SB=-419.78;TI=NM_005603;GI=ATP8B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,29:48:99:657,0,460:0.604:99 chr18 55317676 rs222581 C T 3422.56 PASS AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.93;MQ0=0;QD=23.44;SB=-2835.43;TI=NM_005603;GI=ATP8B1;FC=Missense_A1152T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,146:146:99:3423,235,0:1.000:99 chr18 55362532 rs319443 T G 14565.68 PASS AC=2;AF=1.00;AN=2;DP=512;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.7797;MQ=54.85;MQ0=0;QD=28.45;SB=-9817.87;TI=NM_005603;GI=ATP8B1;FC=Synonymous_R271R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,512:512:99:14566,1041,0:1.000:99 chr18 55364852 rs319438 A G 2762.50 PASS AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.40;MQ0=0;QD=24.23;SB=-2195.69;TI=NM_005603;GI=ATP8B1;FC=Synonymous_D232D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,114:114:99:2796,193,0:1.000:99 chr19 1388538 rs1142530 C T 1443.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.161;DP=159;Dels=0.00;FS=1.250;HRun=0;HaplotypeScore=4.4938;MQ=45.45;MQ0=0;MQRankSum=-1.523;QD=9.08;ReadPosRankSum=-1.027;SB=-1123.71;TI=NM_024407;GI=NDUFS7;FC=Missense_P23L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:88,71:159:99:1474,0,1804:0.447:99 chr19 7112593 rs1052371 G A 2149.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.662;DP=224;Dels=0.00;FS=1.032;HRun=0;HaplotypeScore=7.5864;MQ=44.93;MQ0=0;MQRankSum=-0.028;QD=9.59;ReadPosRankSum=0.041;SB=-1695.35;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:117,106:224:99:2179,0,2466:0.475:99 chr19 7112645 rs12642 C A 1184.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.409;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6717;MQ=49.61;MQ0=0;MQRankSum=0.099;QD=9.33;ReadPosRankSum=0.916;SB=-946.63;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,59:127:99:1215,0,1447:0.465:99 chr19 7114213 rs1864193 C A 1281.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.821;DP=100;Dels=0.00;FS=0.781;HRun=1;HaplotypeScore=5.6807;MQ=42.69;MQ0=0;MQRankSum=-1.257;QD=12.82;ReadPosRankSum=0.364;SB=-1056.82;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,63:100:99:1312,0,716:0.630:99 chr19 7114288 rs3745551 C T 267.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.136;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=50.29;MQ0=0;MQRankSum=1.115;QD=10.71;ReadPosRankSum=1.441;SB=-209.50;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,13:25:99:298,0,257:0.520:99 chr19 7114920 . G GT 1224.92 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.726;DP=177;FS=0.567;HRun=10;HaplotypeScore=113.6666;MQ=53.68;MQ0=0;MQRankSum=4.772;QD=6.92;ReadPosRankSum=0.384;SB=-571.55;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:97,59:177:99:1264,0,2324:0.378:99 chr19 7115057 rs55972112 C T 712.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.005;DP=80;Dels=0.00;FS=0.885;HRun=1;HaplotypeScore=2.8799;MQ=52.19;MQ0=0;MQRankSum=0.678;QD=8.91;ReadPosRankSum=-0.447;SB=-365.37;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,31:80:99:743,0,1092:0.392:99 chr19 7115650 rs3833238 GT G 1657.87 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.166;DP=97;FS=0.000;HRun=2;HaplotypeScore=14.7305;MQ=46.25;MQ0=0;MQRankSum=1.165;QD=17.09;ReadPosRankSum=-1.641;SB=-828.71;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,47:97:99:1697,0,1712:0.500:99 chr19 7116136 . C CT 244.70 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.121;DP=46;FS=2.814;HRun=13;HaplotypeScore=154.4338;MQ=50.33;MQ0=0;MQRankSum=-2.908;QD=5.32;ReadPosRankSum=0.155;SB=-105.09;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,14:45:99:284,0,267:0.400:99 chr19 7116283 rs1051651 G C 1585.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.645;DP=151;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=43.90;MQ0=0;MQRankSum=0.028;QD=10.50;ReadPosRankSum=-0.024;SB=-1299.75;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,80:151:99:1616,0,1365:0.530:99 chr19 7116711 . C A 37.59 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.812;DP=26;Dels=0.00;FS=10.307;HRun=21;HaplotypeScore=27.5631;MQ=42.13;MQ0=0;MQRankSum=-1.102;QD=1.45;ReadPosRankSum=1.954;SB=-0.01;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,4:26:67.58:68,0,556:0.154:37 chr19 7116768 . T G 54.51 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-3.005;DP=29;Dels=0.00;FS=5.378;HRun=5;HaplotypeScore=26.6742;MQ=41.47;MQ0=0;MQRankSum=-1.950;QD=1.88;ReadPosRankSum=3.327;SB=-0.01;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,10:29:84.50:85,0,563:0.345:54 chr19 7116778 rs41416247 TG T 399.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.852;DP=34;FS=12.187;HRun=6;HaplotypeScore=122.9921;MQ=46.46;MQ0=0;MQRankSum=-0.686;QD=11.76;ReadPosRankSum=2.182;SB=-77.38;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,13:34:99:439,0,372:0.382:99 chr19 7116963 rs1051690 T C 2268.41 PASS AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=46.50;MQ0=0;QD=23.88;SB=-1756.81;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,95:95:99:2301,160,0:1.000:99 chr19 7125297 rs1799817 G A 938.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.700;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9994;MQ=42.95;MQ0=0;MQRankSum=-1.169;QD=10.66;ReadPosRankSum=0.256;SB=-756.20;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Synonymous_H1073H,Synonymous_H1085H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,48:88:99:968,0,760:0.545:99 chr19 7141775 rs2229431 G A 1737.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.009;DP=180;Dels=0.00;FS=1.839;HRun=0;HaplotypeScore=3.8882;MQ=46.10;MQ0=0;MQRankSum=-1.554;QD=9.65;ReadPosRankSum=-0.649;SB=-1474.01;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Synonymous_N853N,Synonymous_N865N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,91:180:99:1768,0,1829:0.506:99 chr19 7293898 rs7508518 G C 146.59 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=18.32;SB=-157.82;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Missense_A2G,Missense_A2G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,8:8:12.04:179,12,0:1.000:12 chr19 7593048 rs73003348 C T 798.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.753;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=42.61;MQ0=0;MQRankSum=-0.416;QD=7.83;ReadPosRankSum=0.084;SB=-723.01;TI=NM_020533;GI=MCOLN1;FC=Missense_T261M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,44:102:99:828,0,1164:0.431:99 chr19 7711221 rs10001 T C 1366.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.467;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4425;MQ=45.90;MQ0=0;MQRankSum=-0.224;QD=10.51;ReadPosRankSum=0.382;SB=-1039.04;TI=NM_006949,NM_001127396;GI=STXBP2,STXBP2;FC=Synonymous_D481D,Synonymous_D478D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,67:130:99:1396,0,1318:0.515:99 chr19 7712277 rs6791 A G 1761.93 PASS AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=43.61;MQ0=0;QD=23.81;SB=-1382.98;TI=NM_006949,NM_001127396;GI=STXBP2,STXBP2;FC=Missense_I526V,Missense_I523V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,74:74:99:1795,123,0:1.000:99 chr19 8376431 rs561 G A 943.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.234;DP=75;Dels=0.00;FS=0.906;HRun=0;HaplotypeScore=1.7882;MQ=45.64;MQ0=0;MQRankSum=-0.277;QD=12.58;ReadPosRankSum=-2.693;SB=-735.32;TI=NM_005001;GI=NDUFA7;FC=Synonymous_P100P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,46:75:99:974,0,541:0.613:99 chr19 12768948 rs35836657 T C 195.06 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.867;DP=14;Dels=0.00;FS=2.616;HRun=0;HaplotypeScore=0.8941;MQ=49.84;MQ0=0;MQRankSum=1.867;QD=13.93;ReadPosRankSum=0.400;SB=-65.63;TI=NM_001173498,NM_000528;GI=MAN2B1,MAN2B1;FC=Missense_N412S,Missense_N413S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,9:14:85.14:225,0,85:0.643:85 chr19 13008607 rs1060218 G T 930.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.881;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=44.76;MQ0=0;MQRankSum=-2.429;QD=9.13;ReadPosRankSum=-0.877;SB=-805.44;TI=NM_000159,NM_013976;GI=GCDH,GCDH;FC=Synonymous_G391G,Synonymous_G391G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,51:102:99:961,0,1004:0.500:99 chr19 13010520 rs8012 A G 1070.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.494;DP=78;Dels=0.00;FS=0.913;HRun=1;HaplotypeScore=4.5487;MQ=53.98;MQ0=0;MQRankSum=1.271;QD=13.73;ReadPosRankSum=-0.672;SB=-868.30;TI=NM_000159,NM_013976,NM_001105578;GI=GCDH,GCDH,SYCE2;FC=Silent,Missense_Q417R,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,51:78:99:1101,0,498:0.654:99 chr19 13010643 rs9384 G T 730.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.267;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.01;MQ0=0;MQRankSum=-0.030;QD=10.59;ReadPosRankSum=-0.174;SB=-552.95;TI=NM_000159,NM_013976,NM_001105578;GI=GCDH,GCDH,SYCE2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,36:69:99:761,0,702:0.522:99 chr19 17935626 rs11888 T C 633.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.496;DP=93;Dels=0.00;FS=0.813;HRun=0;HaplotypeScore=1.7608;MQ=40.74;MQ0=0;MQRankSum=-0.985;QD=6.81;ReadPosRankSum=1.719;SB=-502.24;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,34:93:99:664,0,1214:0.366:99 chr19 17936259 rs73014967 G A 302.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.359;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.52;MQ0=0;MQRankSum=0.486;QD=8.90;ReadPosRankSum=-1.595;SB=-230.96;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,15:34:99:333,0,386:0.441:99 chr19 17936532 . A G 317.35 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DP=15;Dels=0.00;FS=6.690;HRun=0;HaplotypeScore=0.0000;MQ=29.57;MQ0=0;MQRankSum=-1.083;QD=21.16;ReadPosRankSum=-2.670;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,12:15:36.11:347,0,36:0.800:36 chr19 17936535 . C T 315.47 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.938;DP=15;Dels=0.00;FS=6.690;HRun=0;HaplotypeScore=0.9665;MQ=29.57;MQ0=0;MQRankSum=-2.382;QD=21.03;ReadPosRankSum=-2.670;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,12:15:36.11:345,0,36:0.800:36 chr19 17936543 . T A 317.35 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.217;DP=15;Dels=0.00;FS=6.690;HRun=1;HaplotypeScore=1.9330;MQ=29.57;MQ0=0;MQRankSum=-1.660;QD=21.16;ReadPosRankSum=-2.670;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,12:15:36.11:347,0,36:0.800:36 chr19 17936552 . T A 317.35 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.516;DP=15;Dels=0.00;FS=6.690;HRun=5;HaplotypeScore=1.9330;MQ=29.57;MQ0=0;MQRankSum=-2.526;QD=21.16;ReadPosRankSum=-2.670;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,12:15:36.11:347,0,36:0.800:36 chr19 17936554 . C A 317.35 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.650;DP=15;Dels=0.00;FS=6.690;HRun=6;HaplotypeScore=1.9330;MQ=29.57;MQ0=0;MQRankSum=-2.526;QD=21.16;ReadPosRankSum=-2.670;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,12:15:36.11:347,0,36:0.800:36 chr19 17936600 . C T 27.86 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DP=4;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4430;MQ=29.00;MQ0=0;MQRankSum=-0.727;QD=6.97;ReadPosRankSum=0.727;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,3:4:24.41:58,0,24:0.750:24 chr19 17936611 . G A 57.51 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=29.00;MQ0=0;QD=19.17;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:9:90,9,0:1.000:9 chr19 17936709 rs34803277 C CAA 78.36 R8;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.890;DP=45;FS=10.492;HRun=21;HaplotypeScore=203.2722;MQ=31.68;MQ0=0;MQRankSum=-1.359;QD=1.74;ReadPosRankSum=-0.796;SB=-7.49;TI=NM_000215;GI=JAK3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,7:45:99:113,0,469:0.250:78 chr19 17937429 rs3008 A G 325.19 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=40.59;MQ0=0;QD=20.32;SB=-312.73;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,16:16:24.08:358,24,0:1.000:24 chr19 18170384 rs3746190 G A 1813.55 PASS AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.23;MQ0=0;QD=23.55;SB=-1475.37;TI=NM_005535;GI=IL12RB1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,77:77:99:1847,126,0:1.000:99 chr19 18180413 rs401502 C G 1044.72 PASS AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=48.53;MQ0=0;QD=24.30;SB=-810.08;TI=NM_005535;GI=IL12RB1;FC=Missense_G378R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,43:43:75.25:1078,75,0:1.000:75 chr19 18180451 rs375947 A G 1538.99 PASS AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8432;MQ=44.55;MQ0=0;QD=22.63;SB=-1286.40;TI=NM_005535;GI=IL12RB1;FC=Missense_M365T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,68:68:99:1572,108,0:1.000:99 chr19 18181569 rs845380 A G 842.99 PASS AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45.96;MQ0=0;QD=23.42;SB=-666.44;TI=NM_005535,NM_153701;GI=IL12RB1,IL12RB1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,36:36:60.20:876,60,0:1.000:60 chr19 18181779 rs845381 G A 175.89 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.43;MQ0=0;QD=25.13;SB=-80.66;TI=NM_005535,NM_153701;GI=IL12RB1,IL12RB1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,7:7:15.05:209,15,0:1.000:15 chr19 18181950 rs845382 A T 54.17 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.727;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.95;MQ0=0;MQRankSum=0.727;QD=13.54;ReadPosRankSum=0.727;SB=-40.01;TI=NM_005535,NM_153701;GI=IL12RB1,IL12RB1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,3:4:6.02:85,6,0:0.750:6 chr19 18186575 rs17852635 G A 1437.81 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.402;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=44.70;MQ0=0;MQRankSum=-0.797;QD=22.82;ReadPosRankSum=-0.192;SB=-1083.28;TI=NM_005535,NM_153701;GI=IL12RB1,IL12RB1;FC=Synonymous_P228P,Synonymous_P228P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,62:63:67.71:1471,68,0:0.984:67 chr19 18186618 rs11575934 T C 1371.07 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.369;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=47.31;MQ0=0;MQRankSum=-1.762;QD=22.48;ReadPosRankSum=-1.033;SB=-1071.88;TI=NM_005535,NM_153701;GI=IL12RB1,IL12RB1;FC=Missense_Q214R,Missense_Q214R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,59:61:96.32:1404,96,0:0.967:96 chr19 18188408 rs11575926 C T 1541.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.075;DP=150;Dels=0.00;FS=0.603;HRun=0;HaplotypeScore=1.7882;MQ=43.77;MQ0=0;MQRankSum=1.868;QD=10.28;ReadPosRankSum=3.034;SB=-1241.26;TI=NM_005535,NM_153701;GI=IL12RB1,IL12RB1;FC=Missense_R156H,Missense_R156H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,78:150:99:1572,0,1413:0.520:99 chr19 18197635 rs436857 G A 878.00 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.641;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=40.60;MQ0=0;MQRankSum=-1.459;QD=23.11;ReadPosRankSum=-0.638;SB=-637.89;TI=NM_005535,NM_153701;GI=IL12RB1,IL12RB1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,37:38:63.21:911,63,0:0.974:63 chr19 36322270 rs2071327 C T 2040.54 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.899;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7873;MQ=49.12;MQ0=0;MQRankSum=0.710;QD=24.01;ReadPosRankSum=0.942;SB=-1419.22;TI=NM_004646;GI=NPHS1;FC=Synonymous_S1105S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,83:85:99:2074,106,0:0.976:99 chr19 36339247 rs33950747 C T 1780.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.770;DP=200;Dels=0.00;FS=1.096;HRun=0;HaplotypeScore=3.7602;MQ=46.85;MQ0=0;MQRankSum=-1.502;QD=8.90;ReadPosRankSum=-1.443;SB=-1406.74;TI=NM_004646;GI=NPHS1;FC=Missense_R408Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:110,90:200:99:1811,0,2196:0.450:99 chr19 39994711 rs1110627 T C 1240.62 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.207;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=42.69;MQ0=0;MQRankSum=-1.334;QD=10.09;ReadPosRankSum=-0.387;SB=-1047.26;TI=NM_203486,NM_016941;GI=DLL3,DLL3;FC=Unknown_218,Unknown_218;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,64:123:99:1271,0,1210:0.520:99 chr19 39996027 rs2304214 C T 797.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.532;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=44.83;MQ0=0;MQRankSum=-0.379;QD=9.16;ReadPosRankSum=0.575;SB=-628.61;TI=NM_203486,NM_016941;GI=DLL3,DLL3;FC=Synonymous_P343P,Synonymous_P343P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,40:87:99:827,0,932:0.460:99 chr19 40900865 rs268674 C T 1438.68 PASS AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8271;MQ=40.88;MQ0=0;QD=22.84;SB=-1227.25;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Missense_G1132R,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,63:63:99:1472,102,0:1.000:99 chr19 40901011 rs3745202 G C 608.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.166;DP=61;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=1.9330;MQ=44.11;MQ0=0;MQRankSum=-2.113;QD=9.97;ReadPosRankSum=1.003;SB=-502.44;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Missense_P1083R,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,30:61:99:638,0,610:0.492:99 chr19 40901496 rs268673 T C 683.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.794;DP=65;Dels=0.00;FS=2.061;HRun=1;HaplotypeScore=0.8941;MQ=48.98;MQ0=0;MQRankSum=-0.636;QD=10.51;ReadPosRankSum=0.203;SB=-472.20;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Missense_I921M,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,33:65:99:713,0,642:0.508:99 chr19 40901604 rs268672 A G 1602.68 PASS AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8100;MQ=44.87;MQ0=0;QD=24.66;SB=-1219.08;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Synonymous_P885P,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,65:65:99:1636,114,0:1.000:99 chr19 40901614 rs268671 A G 1349.43 PASS AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=45.23;MQ0=0;QD=25.95;SB=-929.76;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Missense_V882A,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,52:52:99:1382,99,0:1.000:99 chr19 40904602 rs744389 G A 420.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.101;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9832;MQ=46.85;MQ0=0;MQRankSum=2.237;QD=9.35;ReadPosRankSum=-0.011;SB=-330.09;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Synonymous_T102T,Synonymous_T102T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,22:45:99:451,0,491:0.489:99 chr19 41920030 rs34442879 C T 558.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.393;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=42.49;MQ0=0;MQRankSum=-0.517;QD=8.87;ReadPosRankSum=-0.214;SB=-454.12;TI=NM_001164783,NM_000709;GI=BCKDHA,BCKDHA;FC=Missense_T151M,Missense_T151M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,29:63:99:589,0,702:0.460:99 chr19 41928652 rs284652 C T 1122.11 PASS AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7608;MQ=48.48;MQ0=0;QD=22.44;SB=-978.08;TI=NM_001164783,NM_000709;GI=BCKDHA,BCKDHA;FC=Synonymous_F323F,Synonymous_F324F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,50:50:78.26:1155,78,0:1.000:78 chr19 41930396 rs4674 A G 2719.30 PASS AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=41.02;MQ0=0;QD=22.47;SB=-2288.27;TI=NM_001164783,NM_000709;GI=BCKDHA,BCKDHA;FC=Synonymous_L406L,Synonymous_L407L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,121:121:99:2752,187,0:1.000:99 chr19 45854767 rs3916890 CG C 2736.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.408;DP=181;FS=0.561;HRun=1;HaplotypeScore=89.2579;MQ=44.52;MQ0=0;MQRankSum=-1.540;QD=15.12;ReadPosRankSum=2.937;SB=-1367.90;TI=NM_177417,NM_000400;GI=KLC3,ERCC2;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:104,72:181:99:2776,0,4131:0.409:99 chr19 45854919 rs13181 T G 550.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.732;DP=51;Dels=0.00;FS=1.096;HRun=0;HaplotypeScore=0.0000;MQ=43.52;MQ0=0;MQRankSum=-2.881;QD=10.79;ReadPosRankSum=-2.482;SB=-481.67;TI=NM_000400;GI=ERCC2;FC=Missense_K751Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,29:51:99:580,0,511:0.569:99 chr19 45868309 rs238406 T G 282.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.783;DP=44;Dels=0.00;FS=2.716;HRun=0;HaplotypeScore=0.0000;MQ=45.59;MQ0=0;MQRankSum=-0.050;QD=6.41;ReadPosRankSum=-0.149;SB=-162.58;TI=NM_000400,NM_001130867;GI=ERCC2,ERCC2;FC=Synonymous_R156R,Synonymous_R132R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,15:44:99:312,0,627:0.341:99 chr19 46031606 rs7259834 T C 1576.30 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.97;MQ0=0;QD=23.53;SB=-1152.58;TI=NM_001017989;GI=OPA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:67:99:1609,111,0:1.000:99 chr19 46050760 rs11083772 T C 1135.19 PASS AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.06;MQ0=0;QD=29.11;SB=-441.79;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,39:39:84.28:1168,84,0:1.000:84 chr19 46051072 . C A 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=-37.80;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr19 46052745 . G GT 131.58 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.094;DP=63;FS=1.039;HRun=12;HaplotypeScore=75.7633;MQ=41.39;MQ0=0;MQRankSum=1.124;QD=2.09;ReadPosRankSum=-2.760;SB=-81.52;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,13:63:99:171,0,912:0.245:99 chr19 46052910 . G T 55.59 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.520;DP=25;Dels=0.00;FS=9.779;HRun=5;HaplotypeScore=0.0000;MQ=51.22;MQ0=0;MQRankSum=-3.150;QD=2.22;ReadPosRankSum=-3.150;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,4:25:85.58:86,0,476:0.160:55 chr19 46052912 . A T 55.59 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.111;DP=25;Dels=0.00;FS=9.779;HRun=5;HaplotypeScore=0.0000;MQ=51.22;MQ0=0;MQRankSum=-3.150;QD=2.22;ReadPosRankSum=-3.150;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,4:25:85.58:86,0,476:0.160:55 chr19 46052917 . T G 55.59 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.149;DP=25;Dels=0.00;FS=9.779;HRun=0;HaplotypeScore=0.0000;MQ=51.22;MQ0=0;MQRankSum=-3.150;QD=2.22;ReadPosRankSum=-2.854;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,4:25:85.58:86,0,475:0.160:55 chr19 46052921 . A T 55.59 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.261;DP=25;Dels=0.00;FS=9.779;HRun=1;HaplotypeScore=0.0000;MQ=51.22;MQ0=0;MQRankSum=-3.150;QD=2.22;ReadPosRankSum=-2.854;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,4:25:85.58:86,0,474:0.160:55 chr19 46055612 . C T 10.49 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DP=7;Dels=0.00;FS=6.021;HRun=0;HaplotypeScore=2.6823;MQ=48.36;MQ0=0;MQRankSum=-1.495;QD=1.50;ReadPosRankSum=0.198;SB=-1.25;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:40.08:40,0,107:0.286:10 chr19 46055621 . A G 43.52 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=0.0000;MQ=42.83;MQ0=0;MQRankSum=-1.231;QD=8.70;ReadPosRankSum=1.231;SB=-2.04;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,3:5:60.58:74,0,61:0.600:43 chr19 46055630 . T C 56.50 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=25.63;MQ0=0;QD=18.83;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:9:89,9,0:1.000:9 chr19 46055636 . A T 56.50 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9665;MQ=25.63;MQ0=0;QD=18.83;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:9:89,9,0:1.000:9 chr19 46055638 . G T 56.50 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9330;MQ=25.63;MQ0=0;QD=18.83;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:9:89,9,0:1.000:9 chr19 46055640 . A T 56.50 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=1.9330;MQ=25.63;MQ0=0;QD=18.83;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:9:89,9,0:1.000:9 chr19 46055649 . A T 35.63 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9330;MQ=29.00;MQ0=0;QD=17.81;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr19 46055785 rs34303121 AT A 104.61 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.927;DP=34;FS=1.410;HRun=16;HaplotypeScore=63.5119;MQ=37.80;MQ0=0;MQRankSum=0.297;QD=3.08;ReadPosRankSum=0.612;SB=-44.30;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,8:34:99:144,0,307:0.286:99 chr19 46055946 . G T 170.94 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.521;DP=15;Dels=0.00;FS=11.139;HRun=4;HaplotypeScore=0.9894;MQ=41.44;MQ0=0;MQRankSum=-3.298;QD=11.40;ReadPosRankSum=-3.298;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,7:15:99:201,0,146:0.467:99 chr19 46055947 . G T 170.94 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.752;DP=15;Dels=0.00;FS=11.139;HRun=4;HaplotypeScore=0.9894;MQ=41.44;MQ0=0;MQRankSum=-3.298;QD=11.40;ReadPosRankSum=-3.298;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,7:15:99:201,0,146:0.467:99 chr19 46055952 . A G 170.94 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.637;DP=15;Dels=0.00;FS=11.139;HRun=0;HaplotypeScore=0.9894;MQ=41.44;MQ0=0;MQRankSum=-3.298;QD=11.40;ReadPosRankSum=-3.298;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,7:15:99:201,0,146:0.467:99 chr19 46055957 . G A 170.94 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.521;DP=15;Dels=0.00;FS=14.564;HRun=0;HaplotypeScore=0.0000;MQ=41.44;MQ0=0;MQRankSum=-3.298;QD=11.40;ReadPosRankSum=-3.298;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,7:15:99:201,0,146:0.467:99 chr19 46055958 . G C 170.95 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.215;DP=15;Dels=0.00;FS=14.564;HRun=0;HaplotypeScore=0.0000;MQ=41.44;MQ0=0;MQRankSum=-3.298;QD=11.40;ReadPosRankSum=-3.298;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,7:15:99:201,0,141:0.467:99 chr19 46055959 . T A 170.94 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.868;DP=15;Dels=0.00;FS=11.139;HRun=0;HaplotypeScore=0.0000;MQ=41.44;MQ0=0;MQRankSum=-3.298;QD=11.40;ReadPosRankSum=-3.298;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,7:15:99:201,0,146:0.467:99 chr19 46055972 . T C 79.67 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=2.180;DP=12;Dels=0.00;FS=6.818;HRun=0;HaplotypeScore=0.0000;MQ=44.01;MQ0=0;MQRankSum=-2.637;QD=6.64;ReadPosRankSum=-2.180;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,4:12:99:110,0,155:0.333:79 chr19 46055973 . G A 79.67 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.239;DP=12;Dels=0.00;FS=6.818;HRun=0;HaplotypeScore=0.0000;MQ=44.01;MQ0=0;MQRankSum=-2.637;QD=6.64;ReadPosRankSum=-2.180;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,4:12:99:110,0,155:0.333:79 chr19 46055977 . A G 79.67 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DP=12;Dels=0.00;FS=6.818;HRun=2;HaplotypeScore=0.8941;MQ=44.01;MQ0=0;MQRankSum=-2.637;QD=6.64;ReadPosRankSum=-2.180;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,4:12:99:110,0,155:0.333:79 chr19 47260493 rs73060707 C T 58.30 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=14.57;SB=-80.02;TI=NM_024301,NM_001039885;GI=FKRP,FKRP;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,4:4:6.02:90,6,0:1.000:6 chr19 50410794 . CTT C 226.52 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.269;DP=21;FS=3.104;HRun=21;HaplotypeScore=64.9594;MQ=35.42;MQ0=0;MQRankSum=-1.614;QD=10.79;ReadPosRankSum=0.404;SB=-45.57;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,5:21:33.23:266,0,33:0.417:33 chr19 50410965 . G T 272.90 LowGQ;LowGQX;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.739;DP=11;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=0.791;QD=24.81;ReadPosRankSum=-1.739;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 0/1:1,10:11:0.34:301,0,0:0.909:0 chr19 50410967 . A T 272.90 LowGQ;LowGQX;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.791;DP=11;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=0.474;QD=24.81;ReadPosRankSum=-1.739;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 0/1:1,10:11:0.34:301,0,0:0.909:0 chr19 50410973 . A T 241.73 LowGQ;LowGQX;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.107;DP=11;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=0.791;QD=21.98;ReadPosRankSum=-1.739;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 0/1:1,10:11:3.35:271,0,3:0.909:3 chr19 50410974 . G T 272.90 LowGQ;LowGQX;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.423;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=1.423;QD=24.81;ReadPosRankSum=-1.739;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 0/1:1,10:11:0.34:301,0,0:0.909:0 chr19 50410976 . A T 272.90 LowGQ;LowGQX;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.423;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=-1.739;QD=24.81;ReadPosRankSum=-1.739;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 0/1:1,10:11:0.34:301,0,0:0.909:0 chr19 50410982 . G A 272.90 LowGQ;LowGQX;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.791;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=1.423;QD=24.81;ReadPosRankSum=-1.739;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 0/1:1,10:11:0.34:301,0,0:0.909:0 chr19 50410984 . G A 255.36 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.791;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=-0.158;QD=23.21;ReadPosRankSum=-1.739;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 1/1:1,10:11:5.40:286,5,0:0.909:5 chr19 50410987 . T C 301.34 SB;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=1.423;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=-1.423;QD=27.39;ReadPosRankSum=-1.739;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 1/1:1,10:11:30.08:334,30,0:0.909:30 chr19 50410989 . CACCA C 387.02 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=2.041;DP=12;FS=0.000;HRun=0;HaplotypeScore=362.1381;MQ=28.20;MQ0=0;MQRankSum=0.752;QD=32.25;ReadPosRankSum=-0.107;SB=-0.00;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,10:12:81:426,0,81:0.833:81 chr19 50410999 . G C 260.65 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DP=12;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8936;MQ=28.20;MQ0=0;MQRankSum=0.752;QD=21.72;ReadPosRankSum=-2.256;SB=1.61;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 0/1:2,10:12:19.03:291,0,19:0.833:19 chr19 50411001 . C T 268.30 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.537;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8936;MQ=28.20;MQ0=0;MQRankSum=1.611;QD=22.36;ReadPosRankSum=-2.256;SB=1.62;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 0/1:2,10:12:19.02:298,0,19:0.833:19 chr19 50411742 rs892028 A G 676.34 PASS AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=41.58;MQ0=0;QD=21.82;SB=-582.03;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 1/1:0,31:31:48.16:709,48,0:1.000:48 chr19 50412217 rs79747934 C G 1255.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.671;DP=158;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7798;MQ=45.20;MQ0=0;MQRankSum=-2.155;QD=7.94;ReadPosRankSum=-0.788;SB=-1036.35;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Missense_S283T,Missense_S283T,Missense_S283T,Missense_S283T,Missense_S283T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,64:158:99:1285,0,1881:0.405:99 chr19 50412417 rs999583 G A 1693.56 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.641;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7490;MQ=39.22;MQ0=0;MQRankSum=1.687;QD=22.28;ReadPosRankSum=1.687;SB=-1374.07;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 1/1:1,75:76:92.82:1727,93,0:0.987:92 chr19 50432704 rs55824593 G C 601.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.347;DP=51;Dels=0.00;FS=4.037;HRun=1;HaplotypeScore=2.7331;MQ=50.83;MQ0=0;MQRankSum=1.234;QD=11.79;ReadPosRankSum=-1.046;SB=-324.90;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553,NM_012068,NM_001193646;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62,ATF5,ATF5;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,26:51:99:631,0,507:0.510:99 chr19 50432780 rs2241702 A T 143.39 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.272;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.68;MQ0=0;MQRankSum=-0.815;QD=7.97;ReadPosRankSum=1.721;SB=-96.75;TI=NM_153718,NM_153719,NM_001193357,NM_016553,NM_012068,NM_001193646;GI=NUP62,NUP62,NUP62,NUP62,ATF5,ATF5;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,7:18:99:173,0,260:0.389:99 chr19 51850290 rs1130426 G A 2713.10 PASS AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8808;MQ=43.01;MQ0=0;QD=22.80;SB=-2256.55;TI=NM_001014763,NM_001985;GI=ETFB,ETFB;FC=Missense_T245M,Missense_T154M;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,119:119:99:2746,187,0:1.000:99 chr20 3210301 rs41281860 G A 1173.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.028;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8936;MQ=44.99;MQ0=0;MQRankSum=-2.609;QD=10.97;ReadPosRankSum=-0.911;SB=-970.45;TI=NM_032034,NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11,SLC4A11;FC=Synonymous_N553N,Synonymous_N580N,Synonymous_N537N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,59:107:99:1203,0,969:0.551:99 chr20 3211235 rs6084312 C T 725.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.893;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=47.76;MQ0=0;MQRankSum=-0.826;QD=6.31;ReadPosRankSum=0.190;SB=-628.75;TI=NM_032034,NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11,SLC4A11;FC=Synonymous_T463T,Synonymous_T490T,Synonymous_T447T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:74,41:115:99:755,0,1541:0.357:99 chr20 3870124 rs3737084 G C 305.36 LowGQ;LowGQX;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.203;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.98;MQ0=0;MQRankSum=-0.935;QD=23.49;ReadPosRankSum=1.470;SB=-119.33;TI=NM_024960,NM_153638;GI=PANK2,PANK2;FC=Silent,Missense_G126A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,12:13:7.70:335,0,8:0.923:7 chr20 31350238 . C T 86.26 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.583;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=37.00;MQ0=0;MQRankSum=-1.073;QD=7.19;ReadPosRankSum=0.259;SB=-101.97;TI=NM_175849,NM_006892,NM_175848;GI=DNMT3B,DNMT3B,DNMT3B;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,6:12:99:116,0,111:0.500:86 chr20 31367948 rs6058885 C T 86.26 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DP=11;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=44.47;MQ0=0;MQRankSum=-0.717;QD=7.84;ReadPosRankSum=0.825;SB=-102.61;TI=NM_175849,NM_006892,NM_175848,NM_175850;GI=DNMT3B,DNMT3B,DNMT3B,DNMT3B;FC=Silent,Silent,Silent,Synonymous_S9S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,6:11:99:116,0,112:0.545:86 chr20 31386347 rs6058891 T C 423.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.896;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.96;MQ0=0;MQRankSum=-0.990;QD=5.89;ReadPosRankSum=0.459;SB=-308.44;TI=NM_175849,NM_006892,NM_175848,NM_175850;GI=DNMT3B,DNMT3B,DNMT3B,DNMT3B;FC=Synonymous_C504C,Synonymous_C524C,Synonymous_C504C,Synonymous_C516C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,23:72:99:454,0,996:0.319:99 chr20 31386449 rs2424922 T C 246.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.954;DP=33;Dels=0.00;FS=3.176;HRun=0;HaplotypeScore=0.0000;MQ=46.69;MQ0=0;MQRankSum=-0.730;QD=7.47;ReadPosRankSum=-1.403;SB=-144.76;TI=NM_175849,NM_006892,NM_175848,NM_175850;GI=DNMT3B,DNMT3B,DNMT3B,DNMT3B;FC=Synonymous_Y538Y,Synonymous_Y558Y,Synonymous_Y538Y,Synonymous_Y550Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,12:33:99:277,0,488:0.364:99 chr20 31396152 rs6058896 C T 1959.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.789;DP=167;Dels=0.00;FS=1.922;HRun=1;HaplotypeScore=4.4704;MQ=44.50;MQ0=0;MQRankSum=-1.270;QD=11.74;ReadPosRankSum=0.360;SB=-1497.12;TI=NM_175849,NM_006892,NM_175848,NM_175850;GI=DNMT3B,DNMT3B,DNMT3B,DNMT3B;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,94:167:99:1990,0,1414:0.563:99 chr20 43264927 rs394105 C T 3206.42 PASS AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=47.42;MQ0=0;QD=23.40;SB=-2603.75;TI=NM_000022;GI=ADA;FC=Synonymous_V12V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,137:137:99:3239,223,0:1.000:99 chr21 34775413 . A G 61.83 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.738;DP=120;Dels=0.00;FS=44.126;HRun=4;HaplotypeScore=41.2221;MQ=34.20;MQ0=0;MQRankSum=-4.982;QD=0.52;ReadPosRankSum=0.946;SB=-0.01;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:103,16:120:91.83:92,0,2480:0.134:61 chr21 34775418 . T G 173.01 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.772;DP=70;Dels=0.00;FS=77.803;HRun=5;HaplotypeScore=47.2419;MQ=32.00;MQ0=0;MQRankSum=-1.542;QD=2.47;ReadPosRankSum=-1.496;SB=-0.01;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,13:70:99:203,0,1335:0.188:99 chr21 34775639 . C G 35.63 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=11.88;SB=-0.01;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:6.02:67,6,0:1.000:6 chr21 34775670 . C G 89.61 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.467;DP=16;Dels=0.00;FS=3.522;HRun=5;HaplotypeScore=23.4680;MQ=30.12;MQ0=0;MQRankSum=-2.426;QD=5.60;ReadPosRankSum=0.583;SB=-0.01;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,6:16:99:120,0,168:0.500:89 chr21 34775676 . C G 73.66 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.289;DP=14;Dels=0.00;FS=3.090;HRun=5;HaplotypeScore=14.5315;MQ=30.89;MQ0=0;MQRankSum=-1.932;QD=5.26;ReadPosRankSum=1.239;SB=-0.01;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,4:14:99:104,0,175:0.333:73 chr21 34775682 . C G 110.35 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DP=9;Dels=0.00;FS=9.700;HRun=3;HaplotypeScore=6.3105;MQ=31.89;MQ0=0;MQRankSum=-1.920;QD=12.26;ReadPosRankSum=-1.920;SB=0.02;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,5:9:63.03:140,0,63:0.625:63 chr21 34809433 . CT C 367.37 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.449;DP=160;FS=6.990;HRun=13;HaplotypeScore=395.6914;MQ=54.72;MQ0=0;MQRankSum=1.944;QD=2.30;ReadPosRankSum=-0.668;SB=-201.06;TI=NM_005534;GI=IFNGR2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,30:160:99:406,0,2149:0.233:99 chr21 34809693 rs1059293 C T 568.39 PASS AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.85;MQ0=0;QD=25.84;SB=-362.62;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,22:22:42.14:601,42,0:1.000:42 chr21 38123320 rs71328504 C CA 167.82 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.329;DP=63;FS=2.492;HRun=11;HaplotypeScore=126.8585;MQ=55.56;MQ0=0;MQRankSum=2.048;QD=2.66;ReadPosRankSum=1.998;SB=-69.54;TI=NM_000411;GI=HLCS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,13:63:99:207,0,984:0.220:99 chr21 38308911 rs1065758 G A 375.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.020;DP=42;Dels=0.00;FS=1.210;HRun=0;HaplotypeScore=0.0000;MQ=47.11;MQ0=0;MQRankSum=-2.732;QD=8.94;ReadPosRankSum=0.491;SB=-317.11;TI=NM_000411;GI=HLCS;FC=Synonymous_S278S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,20:42:99:405,0,505:0.476:99 chr21 38362470 . A G 400.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.553;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9705;MQ=41.78;MQ0=0;MQRankSum=-3.352;QD=3.89;ReadPosRankSum=-1.803;SB=-297.73;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:77,26:103:99:431,0,1635:0.252:99 chr21 38362498 . G A 464.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.432;DP=112;Dels=0.00;FS=0.825;HRun=0;HaplotypeScore=1.8662;MQ=41.15;MQ0=0;MQRankSum=-3.235;QD=4.14;ReadPosRankSum=-3.839;SB=-343.33;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,29:112:99:494,0,1764:0.259:99 chr21 38362531 . T C 178.76 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=0.095;DP=92;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8667;MQ=41.42;MQ0=0;MQRankSum=-3.097;QD=1.94;ReadPosRankSum=0.539;SB=-126.25;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:77,15:92:99:209,0,1551:0.163:99 chr21 38362536 . T C 44.54 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=1.220;DP=94;Dels=0.00;FS=1.326;HRun=0;HaplotypeScore=1.8661;MQ=42.27;MQ0=0;MQRankSum=-2.704;QD=0.47;ReadPosRankSum=3.317;SB=-26.88;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,10:94:74.54:75,0,1863:0.106:44 chr21 44473425 rs706209 G A 1800.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.470;DP=153;Dels=0.00;FS=3.831;HRun=0;HaplotypeScore=4.5761;MQ=50.79;MQ0=0;MQRankSum=-2.821;QD=11.77;ReadPosRankSum=-0.955;SB=-1365.39;TI=NM_000071,NM_001178009,NM_001178008;GI=CBS,CBS,CBS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,84:153:99:1830,0,1596:0.549:99 chr21 44473446 rs706208 A G 1509.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.067;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7373;MQ=53.71;MQ0=0;MQRankSum=-1.655;QD=11.52;ReadPosRankSum=-1.333;SB=-1042.89;TI=NM_000071,NM_001178009,NM_001178008;GI=CBS,CBS,CBS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,65:131:99:1539,0,1517:0.496:99 chr21 44480616 rs1801181 G A 569.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.575;DP=60;Dels=0.00;FS=2.133;HRun=0;HaplotypeScore=1.8857;MQ=42.50;MQ0=0;MQRankSum=-1.826;QD=9.50;ReadPosRankSum=-0.126;SB=-406.59;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 0/1:30,30:60:99:600,0,602:0.500:99 chr21 44485350 rs234706 G A 987.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.920;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8885;MQ=45.74;MQ0=0;MQRankSum=0.536;QD=8.90;ReadPosRankSum=-0.388;SB=-791.47;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 0/1:60,51:111:99:1018,0,1203:0.459:99 chr21 45708277 rs878081 C T 1464.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.286;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=42.53;MQ0=0;MQRankSum=-0.363;QD=11.10;ReadPosRankSum=-0.285;SB=-1274.43;TI=NM_000383;GI=AIRE;FC=Synonymous_S196S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,75:132:99:1495,0,1093:0.568:99 chr21 45710410 rs941405 C G 214.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.892;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.50;MQ0=0;MQRankSum=2.180;QD=6.32;ReadPosRankSum=-0.883;SB=-188.20;TI=NM_000383,NM_000658;GI=AIRE,AIRE;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,12:34:99:245,0,504:0.353:99 chr21 45712977 rs1800521 T C 1129.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.017;DP=101;Dels=0.00;FS=0.778;HRun=2;HaplotypeScore=4.5479;MQ=44.21;MQ0=0;MQRankSum=-1.606;QD=11.18;ReadPosRankSum=1.702;SB=-887.14;TI=NM_000383,NM_000658;GI=AIRE,AIRE;FC=Synonymous_A399A,Synonymous_A202A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,57:101:99:1159,0,844:0.564:99 chr21 45717550 rs1133779 T C 677.84 PASS AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=39.81;MQ0=0;QD=21.87;SB=-572.79;TI=NM_000383,NM_000658;GI=AIRE,AIRE;FC=Synonymous_D526D,Synonymous_D329D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,31:31:48.16:711,48,0:1.000:48 chr21 47410931 rs1980982 T C 3409.33 PASS AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0979;MQ=43.84;MQ0=0;QD=23.04;SB=-2668.71;TI=NM_001848;GI=COL6A1;FC=Synonymous_G365G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,147:148:99:3409,238,0:1.000:99 chr21 47423389 rs1053312 G A 4377.00 PASS AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5207;MQ=41.37;MQ0=0;QD=23.16;SB=-3633.31;TI=NM_001848;GI=COL6A1;FC=Missense_R850H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,189:189:99:4377,298,0:1.000:99 chr21 47423507 rs1053315 G A 482.82 PASS AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.15;MQ0=0;QD=24.14;SB=-389.55;TI=NM_001848;GI=COL6A1;FC=Synonymous_A889A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,20:20:36.12:516,36,0:1.000:36 chr21 47423636 rs1053320 C T 1418.77 PASS AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.16;MQ0=0;QD=26.27;SB=-770.11;TI=NM_001848;GI=COL6A1;FC=Synonymous_S932S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,54:54:99:1452,102,0:1.000:99 chr21 47538960 rs2839110 G A 697.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.677;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8561;MQ=41.23;MQ0=0;MQRankSum=1.708;QD=8.61;ReadPosRankSum=0.828;SB=-634.76;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 0/1:43,38:81:99:727,0,857:0.469:99 chr21 47552103 rs11554669 G T 1706.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.732;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7132;MQ=40.10;MQ0=0;MQRankSum=-0.443;QD=10.16;ReadPosRankSum=2.590;SB=-1472.48;TI=NM_001849;GI=COL6A2;FC=Synonymous_T899T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,88:168:99:1736,0,1631:0.524:99 chr21 47552130 rs9977394 A G 782.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.245;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=40.12;MQ0=0;MQRankSum=-1.686;QD=7.67;ReadPosRankSum=-0.041;SB=-645.13;TI=NM_001849;GI=COL6A2;FC=Synonymous_T908T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,41:102:99:812,0,1219:0.402:99 chr21 47552385 rs6652 C T 828.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.160;DP=79;Dels=0.00;FS=1.854;HRun=0;HaplotypeScore=1.9990;MQ=44.61;MQ0=0;MQRankSum=-0.410;QD=10.49;ReadPosRankSum=0.992;SB=-746.64;TI=NM_001849;GI=COL6A2;FC=Synonymous_R993R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,44:79:99:858,0,748:0.557:99 chr22 18566288 rs12484657 C G 1842.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.490;DP=195;Dels=0.00;FS=0.527;HRun=0;HaplotypeScore=1.7882;MQ=46.46;MQ0=0;MQRankSum=-1.914;QD=9.45;ReadPosRankSum=-0.822;SB=-1396.16;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Missense_L153V,Missense_L153V,Missense_L153V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,88:195:99:1873,0,2133:0.451:99 chr22 18571008 rs464385 G A 867.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.028;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9995;MQ=42.28;MQ0=0;MQRankSum=-0.488;QD=9.04;ReadPosRankSum=1.353;SB=-704.59;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,46:96:99:898,0,1000:0.479:99 chr22 18571670 rs362057 A G 559.52 PASS AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=49.36;MQ0=0;QD=24.33;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 1/1:0,23:23:42.14:593,42,0:1.000:42 chr22 18571828 rs361807 T C 535.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.182;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48.58;MQ0=0;MQRankSum=-1.584;QD=11.64;ReadPosRankSum=-0.959;SB=-427.14;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,27:46:99:566,0,457:0.587:99 chr22 18572106 rs456551 T A 812.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.302;DP=51;Dels=0.00;FS=2.562;HRun=0;HaplotypeScore=8.2897;MQ=54.16;MQ0=0;MQRankSum=0.608;QD=15.93;ReadPosRankSum=0.878;SB=-447.58;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,31:51:99:842,0,524:0.608:99 chr22 18572371 rs5844350 C CTTGG 1660.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.022;DP=54;FS=18.421;HRun=0;HaplotypeScore=182.6477;MQ=40.69;MQ0=0;MQRankSum=2.022;QD=30.75;ReadPosRankSum=-2.040;SB=-556.88;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,26:54:99:1700,0,1532:0.491:99 chr22 18572431 rs5992169 G A 365.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.642;DP=81;Dels=0.00;FS=8.987;HRun=0;HaplotypeScore=0.8941;MQ=41.68;MQ0=0;MQRankSum=-2.724;QD=4.52;ReadPosRankSum=-1.885;SB=-146.47;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,22:81:99:396,0,1591:0.272:99 chr22 18572499 rs10629935 T TCTCA 3640.41 PASS AC=2;AF=1.00;AN=2;DP=57;FS=0.000;HRun=0;HaplotypeScore=142.1483;MQ=43.63;MQ0=0;QD=63.87;SB=-1582.98;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:19,38:57:99:3640,163,0:0.667:99 chr22 18572510 . C G 68.59 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.268;DP=37;Dels=0.00;FS=13.255;HRun=0;HaplotypeScore=0.9933;MQ=45.06;MQ0=0;MQRankSum=-2.328;QD=1.85;ReadPosRankSum=-1.216;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 0/1:31,6:37:98.59:99,0,838:0.162:68 chr22 18572643 . TA T 139.54 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=2.933;DP=14;FS=10.659;HRun=1;HaplotypeScore=65.5804;MQ=36.60;MQ0=0;MQRankSum=-3.067;QD=9.97;ReadPosRankSum=0.133;SB=-0.00;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,5:14:99:179,0,364:0.357:99 chr22 18572649 . T G 107.08 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.333;DP=14;Dels=0.00;FS=10.659;HRun=0;HaplotypeScore=0.8667;MQ=36.60;MQ0=0;MQRankSum=-3.067;QD=7.65;ReadPosRankSum=-3.067;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 0/1:9,5:14:99:137,0,188:0.357:99 chr22 18572651 . G GA 144.90 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=2.933;DP=14;FS=10.659;HRun=1;HaplotypeScore=65.0445;MQ=36.60;MQ0=0;MQRankSum=-3.067;QD=10.35;ReadPosRankSum=-1.333;SB=-0.00;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,5:14:99:184,0,367:0.357:99 chr22 18572653 . A G 107.10 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.667;DP=14;Dels=0.00;FS=10.659;HRun=1;HaplotypeScore=0.8667;MQ=36.60;MQ0=0;MQRankSum=-3.067;QD=7.65;ReadPosRankSum=-3.067;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 0/1:9,5:14:99:137,0,175:0.357:99 chr22 18572892 rs361946 A G 1022.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-3.100;DP=94;Dels=0.00;FS=2.707;HRun=0;HaplotypeScore=0.8941;MQ=49.55;MQ0=0;MQRankSum=-2.276;QD=10.88;ReadPosRankSum=-4.507;SB=-710.48;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,47:94:99:1052,0,1106:0.500:99 chr22 18573122 rs362209 T C 1650.54 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.65;MQ0=0;QD=24.63;SB=-1146.59;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:67:99:1684,117,0:1.000:99 chr22 21213380 rs1061063 C T 1744.62 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.952;DP=172;Dels=0.00;FS=1.196;HRun=0;HaplotypeScore=2.7605;MQ=48.18;MQ0=0;MQRankSum=-2.102;QD=10.14;ReadPosRankSum=-0.182;SB=-1329.32;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,86:172:99:1775,0,1824:0.500:99 chr22 21213416 rs1061064 A G 2343.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.776;DP=276;Dels=0.00;FS=0.442;HRun=0;HaplotypeScore=5.6775;MQ=47.56;MQ0=0;MQRankSum=-1.886;QD=8.49;ReadPosRankSum=-0.291;SB=-1916.80;TI=NM_004782;GI=SNAP29;FC=Synonymous_K6K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:156,120:276:99:2374,0,3230:0.435:99 chr22 21242544 rs178077 A G 554.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.565;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.99;MQ0=0;MQRankSum=0.101;QD=10.66;ReadPosRankSum=0.595;SB=-363.76;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,26:52:99:584,0,614:0.500:99 chr22 21242645 rs16986647 T A 708.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.979;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8882;MQ=41.64;MQ0=0;MQRankSum=-0.964;QD=9.08;ReadPosRankSum=-2.070;SB=-519.70;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,35:78:99:738,0,885:0.449:99 chr22 21243253 rs165801 T C 1898.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.352;DP=158;Dels=0.00;FS=1.311;HRun=0;HaplotypeScore=5.7873;MQ=56.49;MQ0=0;MQRankSum=1.114;QD=12.02;ReadPosRankSum=1.462;SB=-924.89;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,75:158:99:1928,0,2059:0.475:99 chr22 21243643 rs165861 T C 1928.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.690;DP=213;Dels=0.00;FS=0.502;HRun=2;HaplotypeScore=2.8936;MQ=46.87;MQ0=0;MQRankSum=-0.782;QD=9.05;ReadPosRankSum=0.142;SB=-1564.88;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:115,98:213:99:1958,0,2391:0.460:99 chr22 21243687 rs11577 T G 1144.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.929;DP=110;Dels=0.00;FS=0.714;HRun=1;HaplotypeScore=0.0000;MQ=50.05;MQ0=0;MQRankSum=1.678;QD=10.41;ReadPosRankSum=0.719;SB=-832.32;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,51:110:99:1175,0,1253:0.464:99 chr22 21244385 rs165744 G T 454.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.345;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=47.00;MQ0=0;MQRankSum=1.824;QD=13.78;ReadPosRankSum=1.861;SB=-276.99;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,20:33:99:485,0,295:0.606:99 chr22 21244924 . 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_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 33673125 rs1046166 C T 1986.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.843;DP=209;Dels=0.00;FS=0.508;HRun=0;HaplotypeScore=2.6823;MQ=45.06;MQ0=0;MQRankSum=-1.935;QD=9.51;ReadPosRankSum=0.901;SB=-1678.40;TI=NM_133642,NM_004737;GI=LARGE,LARGE;FC=Missense_R665H,Missense_R665H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:108,101:209:99:2017,0,2210:0.483:99 chr22 34022284 rs86487 G A 1117.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.903;DP=98;Dels=0.00;FS=1.636;HRun=0;HaplotypeScore=1.9995;MQ=44.79;MQ0=0;MQRankSum=-1.968;QD=11.40;ReadPosRankSum=-1.039;SB=-896.43;TI=NM_133642,NM_004737;GI=LARGE,LARGE;FC=Synonymous_A145A,Synonymous_A145A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:44,54:98:99:1147,0,923:0.551:99 chr22 38507818 rs11570770 G T 82.05 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.77;MQ0=0;QD=27.35;SB=-32.65;TI=NM_003560,NM_001004426,NM_001199562;GI=PLA2G6,PLA2G6,PLA2G6;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:9.03:114,9,0:1.000:9 chr22 50297435 rs1321 T C 2123.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.586;DP=265;Dels=0.00;FS=0.954;HRun=0;HaplotypeScore=5.5758;MQ=41.87;MQ0=0;MQRankSum=-1.240;QD=8.01;ReadPosRankSum=2.537;SB=-1721.68;TI=NM_024105;GI=ALG12;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:154,111:265:99:2153,0,3068:0.419:99 chr22 50297888 rs3922872 T C 1450.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.758;DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8936;MQ=44.86;MQ0=0;MQRankSum=-2.578;QD=7.93;ReadPosRankSum=2.417;SB=-1221.82;TI=NM_024105;GI=ALG12;FC=Missense_I393V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,76:183:99:1480,0,2223:0.415:99 chr22 50301476 rs8135963 T C 461.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=38.91;MQ0=0;MQRankSum=-0.414;QD=7.96;ReadPosRankSum=0.164;SB=-422.44;TI=NM_024105;GI=ALG12;FC=Synonymous_A295A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,26:58:99:492,0,640:0.448:99 chr22 50311973 rs9616378 A G 4438.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.628;DP=474;Dels=0.00;FS=2.871;HRun=2;HaplotypeScore=6.6194;MQ=46.92;MQ0=0;MQRankSum=-3.849;QD=9.36;ReadPosRankSum=1.732;SB=-3454.07;TI=NM_024105;GI=ALG12;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:255,219:474:99:4438,0,5119:0.462:99 chr22 50311989 . AAC A 11063.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=19.464;DP=538;FS=1.775;HRun=0;HaplotypeScore=1786.4593;MQ=46.26;MQ0=0;MQRankSum=-3.033;QD=20.56;ReadPosRankSum=3.279;SB=-5440.58;TI=NM_024105;GI=ALG12;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:294,243:538:99:11064,0,13443:0.453:99 chr22 50312035 rs9616379 C T 4774.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.928;DP=464;Dels=0.00;FS=3.438;HRun=0;HaplotypeScore=5.6165;MQ=45.58;MQ0=0;MQRankSum=-2.863;QD=10.29;ReadPosRankSum=-4.420;SB=-3288.85;TI=NM_024105;GI=ALG12;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:238,226:464:99:4774,0,4795:0.487:99 chr22 50498049 rs41283487 G C 142.99 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.307;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.096;QD=7.53;ReadPosRankSum=0.395;SB=-0.01;TI=NM_139202,NM_015166;GI=MLC1,MLC1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,6:19:99:173,0,414:0.316:99 chr22 50498248 rs41283489 C A 553.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.446;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9996;MQ=51.07;MQ0=0;MQRankSum=1.820;QD=15.37;ReadPosRankSum=0.515;SB=-354.74;TI=NM_139202,NM_015166;GI=MLC1,MLC1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,25:36:99:583,0,232:0.694:99 chr22 50498885 rs9628320 G A 996.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.794;DP=78;Dels=0.00;FS=0.919;HRun=0;HaplotypeScore=4.7547;MQ=43.33;MQ0=0;MQRankSum=0.038;QD=12.77;ReadPosRankSum=0.192;SB=-838.54;TI=NM_139202,NM_015166;GI=MLC1,MLC1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,50:78:99:1026,0,488:0.658:99 chr22 50524250 rs11447701 G GC 587.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.710;DP=36;FS=0.000;HRun=2;HaplotypeScore=23.9937;MQ=55.16;MQ0=0;MQRankSum=4.010;QD=16.33;ReadPosRankSum=0.017;SB=-280.32;TI=NM_015166;GI=MLC1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,18:36:99:627,0,569:0.514:99 chr22 50962208 rs12148 T G 711.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.960;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=42.37;MQ0=0;MQRankSum=-1.096;QD=10.46;ReadPosRankSum=-0.012;SB=-622.71;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 0/1:31,37:68:99:741,0,603:0.544:99 chr22 50962782 rs140523 C G 590.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.684;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=45.67;MQ0=0;MQRankSum=0.353;QD=10.55;ReadPosRankSum=-0.304;SB=-512.99;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 0/1:26,30:56:99:621,0,495:0.536:99 chr22 50963905 rs74479613 C T 1280.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.422;DP=216;Dels=0.00;FS=1.761;HRun=0;HaplotypeScore=3.7325;MQ=46.54;MQ0=0;MQRankSum=-2.281;QD=5.93;ReadPosRankSum=1.010;SB=-1061.97;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 0/1:143,73:216:99:1311,0,3013:0.338:99 chr22 50963965 rs131806 C G 3637.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.350;DP=257;Dels=0.00;FS=1.027;HRun=1;HaplotypeScore=7.2087;MQ=45.28;MQ0=0;MQRankSum=1.177;QD=14.15;ReadPosRankSum=1.315;SB=-2952.37;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 0/1:82,175:257:99:3637,0,1527:0.681:99 chr22 50964236 rs11479 G A 1289.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.987;DP=139;Dels=0.00;FS=0.633;HRun=1;HaplotypeScore=0.0000;MQ=46.33;MQ0=0;MQRankSum=-1.709;QD=9.28;ReadPosRankSum=0.019;SB=-948.59;TI=NM_001169110,NM_001169109,NM_001113756,NM_001953,NM_001113755;GI=SCO2,SCO2,TYMP,TYMP,TYMP;FC=Silent,Silent,Missense_S471L,Missense_S471L,Missense_S471L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,64:139:99:1319,0,1637:0.460:99 chr22 50964862 rs131804 G A 432.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.285;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=42.39;MQ0=0;MQRankSum=-1.998;QD=10.80;ReadPosRankSum=-0.911;SB=-307.86;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 0/1:18,22:40:99:462,0,358:0.550:99 chr22 51061827 rs73172277 C T 269.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.850;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.88;MQ0=0;MQRankSum=-1.683;QD=7.71;ReadPosRankSum=-1.783;SB=-228.19;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 0/1:20,15:35:99:300,0,394:0.429:99 chr22 51062051 rs6009939 G T 34.34 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=6.87;ReadPosRankSum=1.231;SB=-31.78;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 0/1:3,2:5:64.33:64,0,65:0.400:34 chr22 51062222 rs131717 G C 44.50 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.741;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.16;MQ0=0;MQRankSum=0.633;QD=4.45;ReadPosRankSum=1.568;SB=-65.61;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 0/1:6,4:10:74.49:74,0,119:0.400:44 chr22 51062654 rs5770805 T C 217.28 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=46.96;MQ0=0;QD=27.16;SB=-77.81;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 1/1:0,8:8:18.06:250,18,0:1.000:18 chr22 51062718 rs7288050 C T 417.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.557;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.89;MQ0=0;MQRankSum=0.085;QD=16.68;ReadPosRankSum=2.633;SB=-142.61;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 0/1:9,16:25:99:447,0,234:0.640:99 chr22 51062891 rs7288338 C G 1391.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.358;DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.38;MQ0=0;MQRankSum=-1.823;QD=8.65;ReadPosRankSum=0.039;SB=-1066.51;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 0/1:90,71:161:99:1422,0,1819:0.441:99 chr22 51062938 rs5770953 C T 221.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.534;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.42;MQ0=0;MQRankSum=1.230;QD=7.90;ReadPosRankSum=2.530;SB=-158.91;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 0/1:16,12:28:99:251,0,377:0.429:99 chr22 51064039 rs743616 G C 4769.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.883;DP=210;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5089;MQ=42.58;MQ0=0;MQRankSum=-1.900;QD=22.71;ReadPosRankSum=-1.187;SB=-4012.58;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 1/1:2,208:210:99:4770,286,0:0.990:99 chr22 51066537 . G A 607.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.419;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=49.74;MQ0=0;MQRankSum=-2.764;QD=11.68;ReadPosRankSum=0.995;SB=-447.30;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 0/1:23,29:52:99:637,0,504:0.558:99 chrX 2852951 rs11222;rs74787451 G A 422.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.542;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=51.13;MQ0=0;MQRankSum=1.845;QD=10.06;ReadPosRankSum=-0.606;SB=-183.01;TI=NM_000047;GI=ARSE;FC=Synonymous_N564N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,19:42:99:453,0,565:0.452:99 chrX 2853146 rs75821383 C T 1481.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.928;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8931;MQ=43.80;MQ0=0;MQRankSum=-1.549;QD=9.15;ReadPosRankSum=-0.623;SB=-1193.96;TI=NM_000047;GI=ARSE;FC=Synonymous_P499P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,76:162:99:1511,0,1704:0.469:99 chrX 2856155 rs35143646 C T 622.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.464;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9995;MQ=44.59;MQ0=2;MQRankSum=-1.689;QD=7.60;ReadPosRankSum=-3.111;SB=-467.73;TI=NM_000047;GI=ARSE;FC=Missense_G424S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,33:82:99:653,0,1019:0.402:99 chrX 5808861 rs1882260 G A 2157.23 PASS AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48.73;MQ0=0;QD=23.71;SB=-1746.52;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,91:91:99:2190,151,0:1.000:99 chrX 5810299 rs5916269 G A 932.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.488;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.85;MQ0=0;MQRankSum=0.651;QD=15.54;ReadPosRankSum=-1.612;SB=-427.18;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,39:60:99:963,0,467:0.650:99 chrX 5810574 rs3810686 C T 613.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.035;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=56.07;MQ0=0;MQRankSum=0.261;QD=11.16;ReadPosRankSum=-1.322;SB=-434.30;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,27:55:99:644,0,687:0.491:99 chrX 5810684 rs3810687 G T 2278.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.871;DP=213;Dels=0.00;FS=0.502;HRun=0;HaplotypeScore=2.6274;MQ=50.81;MQ0=0;MQRankSum=1.051;QD=10.70;ReadPosRankSum=-1.171;SB=-1748.78;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:104,109:213:99:2309,0,2116:0.512:99 chrX 5810756 rs3810688 C T 3050.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.354;DP=330;Dels=0.00;FS=0.838;HRun=1;HaplotypeScore=9.9241;MQ=46.98;MQ0=0;MQRankSum=0.080;QD=9.25;ReadPosRankSum=0.980;SB=-2167.01;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:183,147:330:99:3081,0,3788:0.445:99 chrX 5821786 rs7049300 G A 330.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.410;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=39.95;MQ0=0;MQRankSum=-1.332;QD=15.04;ReadPosRankSum=-0.705;SB=-228.92;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Synonymous_T311T,Synonymous_T311T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,17:22:94.07:361,0,94:0.773:94 chrX 6145855 rs2290488 C G 5503.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.609;DP=506;Dels=0.00;FS=1.036;HRun=2;HaplotypeScore=12.4459;MQ=48.22;MQ0=0;MQRankSum=-2.209;QD=10.88;ReadPosRankSum=1.765;SB=-4111.02;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:241,264:506:99:5503,0,5124:0.523:99 chrX 10416147 . AT A 482.71 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DP=152;FS=2.066;HRun=18;HaplotypeScore=316.3051;MQ=48.27;MQ0=0;MQRankSum=1.878;QD=3.18;ReadPosRankSum=1.851;SB=-260.00;TI=NM_001193277,NM_033289,NM_000381,NM_001098624,NM_033290;GI=MID1,MID1,MID1,MID1,MID1;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,37:152:99:522,0,1115:0.322:99 chrX 15844898 rs35522320 T TA 705.46 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.687;DP=87;FS=0.958;HRun=16;HaplotypeScore=369.8398;MQ=46.44;MQ0=0;MQRankSum=0.280;QD=8.11;ReadPosRankSum=0.860;SB=-282.42;TI=NM_003916;GI=AP1S2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,42:87:99:744,0,314:0.553:99 chrX 15845009 . CTT C 492.37 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.832;DP=78;FS=8.014;HRun=15;HaplotypeScore=220.5383;MQ=44.29;MQ0=0;MQRankSum=0.028;QD=6.31;ReadPosRankSum=0.315;SB=-160.71;TI=NM_003916;GI=AP1S2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,15:78:99:531,0,912:0.288:99 chrX 17753436 rs5909331 A T 3803.04 PASS AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=44.27;MQ0=0;QD=25.19;SB=-2623.65;TI=NM_198270,NM_001136024;GI=NHS,NHS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,151:151:99:3803,265,0:1.000:99 chrX 20171734 . CT C 91.60 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.426;DP=54;FS=0.000;HRun=14;HaplotypeScore=124.3131;MQ=47.87;MQ0=0;MQRankSum=0.657;QD=1.70;ReadPosRankSum=-0.266;SB=-64.79;TI=NM_004586;GI=RPS6KA3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,9:54:99:131,0,699:0.205:91 chrX 20171910 . G T 23.88 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=25.63;MQ0=0;MQRankSum=0.736;QD=7.96;ReadPosRankSum=0.736;SB=-0.01;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,2:3:5.99:55,6,0:0.667:5 chrX 20171912 . A T 23.88 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=0.0000;MQ=25.63;MQ0=0;QD=7.96;SB=-0.01;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:3:5.99:55,6,0:1.000:5 chrX 20171919 . A T 23.88 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=0.0000;MQ=25.63;MQ0=0;MQRankSum=0.736;QD=7.96;ReadPosRankSum=0.736;SB=-0.01;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,2:3:5.99:55,6,0:0.667:5 chrX 20171920 . G C 25.27 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=25.63;MQ0=0;QD=8.42;SB=23.04;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:3:5.99:55,6,0:1.000:5 chrX 20171922 . A T 23.88 LowGQ;LowGQX;SB;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=25.63;MQ0=0;MQRankSum=0.736;QD=7.96;ReadPosRankSum=0.736;SB=-0.01;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,2:3:5.99:55,6,0:0.667:5 chrX 20171928 . G A 23.88 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=25.63;MQ0=0;QD=7.96;SB=-0.01;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:5.99:55,6,0:1.000:5 chrX 20171930 . G A 11.64 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=25.63;MQ0=0;MQRankSum=-0.736;QD=3.88;ReadPosRankSum=0.736;SB=-0.01;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:24.44:41,0,24:0.667:11 chrX 20171933 . T C 16.22 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=25.63;MQ0=0;MQRankSum=-0.736;QD=5.41;ReadPosRankSum=0.736;SB=-0.01;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:24.44:46,0,24:0.667:16 chrX 20171938 . C T 23.88 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=23.77;MQ0=0;QD=11.94;SB=-0.01;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:5.99:55,6,0:1.000:5 chrX 20171939 . A C 23.88 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=23.77;MQ0=0;QD=11.94;SB=-0.01;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:5.99:55,6,0:1.000:5 chrX 20171943 . T C 23.88 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=23.77;MQ0=0;QD=11.94;SB=-0.01;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:5.99:55,6,0:1.000:5 chrX 20171944 . G A 23.88 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=23.77;MQ0=0;QD=11.94;SB=-0.01;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:5.99:55,6,0:1.000:5 chrX 20171945 . G C 23.88 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=23.77;MQ0=0;QD=11.94;SB=-0.01;TI=NM_004586;GI=RPS6KA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:5.99:55,6,0:1.000:5 chrX 21861434 rs3213451 A G 3339.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.768;DP=300;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6770;MQ=50.14;MQ0=0;MQRankSum=1.920;QD=11.13;ReadPosRankSum=-1.411;SB=-2384.28;TI=NM_015884;GI=MBTPS2;FC=Synonymous_Q74Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:151,149:300:99:3339,0,3428:0.497:99 chrX 21900695 rs73195148 G T 238.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.301;DP=41;Dels=0.00;FS=3.038;HRun=5;HaplotypeScore=0.0000;MQ=54.29;MQ0=0;MQRankSum=2.221;QD=5.82;ReadPosRankSum=0.444;SB=-100.31;TI=NM_015884;GI=MBTPS2;FC=Synonymous_G494G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,12:41:99:269,0,598:0.293:99 chrX 21901903 rs5951476 G A 760.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.566;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=46.52;MQ0=0;MQRankSum=0.388;QD=8.74;ReadPosRankSum=2.917;SB=-645.11;TI=NM_015884;GI=MBTPS2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,40:87:99:791,0,968:0.460:99 chrX 21958768 rs35504508 A AG 212.77 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=6;FS=0.000;HRun=2;HaplotypeScore=0.5238;MQ=60.00;MQ0=0;QD=35.46;SB=-126.50;TI=NM_004595;GI=SMS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,6:6:18.06:255,18,0:1.000:18 chrX 22012912 . TA T 6045.81 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.686;DP=460;FS=0.000;HRun=9;HaplotypeScore=276.1747;MQ=53.74;MQ0=0;MQRankSum=1.400;QD=13.14;ReadPosRankSum=1.703;SB=-2700.27;TI=NM_004595;GI=SMS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:223,230:459:99:6046,0,5471:0.508:99 chrX 25022103 . CT C 483.60 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.881;DP=46;FS=0.000;HRun=16;HaplotypeScore=85.1711;MQ=50.75;MQ0=0;MQRankSum=-0.194;QD=10.51;ReadPosRankSum=-0.552;SB=-272.34;TI=NM_139058;GI=ARX;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,25:46:46.56:523,0,47:0.694:46 chrX 28605876 rs5901895 GT G 2978.28 LowGQ;LowGQX;R8 AC=2;AF=1.00;AN=2;BaseQRankSum=-2.857;DP=140;FS=0.000;HRun=11;HaplotypeScore=103.2635;MQ=51.38;MQ0=0;MQRankSum=0.514;QD=21.27;ReadPosRankSum=-0.093;SB=-1384.57;TI=NM_014271;GI=IL1RAPL1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:17,114:140:7.11:3019,7,0:0.870:7 chrX 28807442 rs6526806 G A 7734.21 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.686;DP=299;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=53.81;MQ0=0;MQRankSum=0.620;QD=25.87;ReadPosRankSum=-1.651;SB=-5832.80;TI=NM_014271;GI=IL1RAPL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,298:299:99:7734,542,0:0.997:99 chrX 31138589 rs3361 T C 989.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.321;DP=139;Dels=0.00;FS=1.449;HRun=0;HaplotypeScore=0.8941;MQ=48.95;MQ0=0;MQRankSum=-0.454;QD=7.12;ReadPosRankSum=-3.493;SB=-547.09;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=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,48:139:99:1019,0,2078:0.345:99 chrX 31196549 rs11333372 GT G 1507.49 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.746;DP=281;FS=7.556;HRun=15;HaplotypeScore=450.4549;MQ=52.29;MQ0=1;MQRankSum=3.115;QD=5.36;ReadPosRankSum=-0.300;SB=-393.38;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 0/1:122,84:280:99:1547,0,2154:0.408:99 chrX 31496350 rs1800280 C T 3704.88 PASS AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=48.12;MQ0=0;QD=23.45;SB=-3009.70;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 1/1:0,158:158:99:3705,253,0:1.000:99 chrX 32380996 rs1801187 C T 1356.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DP=150;Dels=0.00;FS=0.615;HRun=0;HaplotypeScore=4.7864;MQ=49.09;MQ0=0;MQRankSum=-0.243;QD=9.04;ReadPosRankSum=-2.039;SB=-978.80;TI=NM_004012,NM_004011,NM_004007,NM_004010,NM_004009,NM_004006,NM_000109;GI=DMD,DMD,DMD,DMD,DMD,DMD,DMD;FC=Missense_R401H,Missense_R404H,Missense_R1622H,Missense_R1622H,Missense_R1741H,Missense_R1745H,Missense_R1737H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,66:150:99:1386,0,1754:0.443:99 chrX 32503194 rs228406 T C 2814.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.064;DP=261;Dels=0.00;FS=2.120;HRun=1;HaplotypeScore=2.7880;MQ=50.03;MQ0=0;MQRankSum=2.069;QD=10.79;ReadPosRankSum=0.708;SB=-1668.80;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 0/1:133,127:261:99:2845,0,2869:0.488:99 chrX 33357592 rs5927163 T C 3029.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.182;DP=305;Dels=0.00;FS=1.929;HRun=0;HaplotypeScore=7.5785;MQ=48.90;MQ0=0;MQRankSum=1.667;QD=9.93;ReadPosRankSum=0.038;SB=-2073.62;TI=NM_000109;GI=DMD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:163,141:305:99:3059,0,3718:0.464:99 chrX 38226603 rs1800321 A G 3519.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.437;DP=347;Dels=0.00;FS=0.391;HRun=0;HaplotypeScore=9.8076;MQ=49.10;MQ0=0;MQRankSum=-0.526;QD=10.14;ReadPosRankSum=-0.205;SB=-2648.37;TI=NM_000531;GI=OTC;FC=Missense_K46R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:178,169:347:99:3519,0,3667:0.487:99 chrX 39933339 rs5917933 A G 627.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.193;DP=55;Dels=0.00;FS=3.900;HRun=0;HaplotypeScore=1.9995;MQ=50.36;MQ0=0;MQRankSum=1.510;QD=11.41;ReadPosRankSum=0.469;SB=-552.91;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 0/1:23,32:55:99:658,0,500:0.582:99 chrX 41379131 . TA T 128.61 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.084;DP=50;FS=3.052;HRun=13;HaplotypeScore=150.3445;MQ=48.61;MQ0=0;MQRankSum=0.810;QD=2.57;ReadPosRankSum=-0.285;SB=-67.48;TI=NM_001126055,NM_001126054,NM_003688;GI=CASK,CASK,CASK;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,10:50:99:168,0,566:0.233:99 chrX 46357342 . TAC T 5044.39 PASS AC=2;AF=1.00;AN=2;DP=142;FS=0.000;HRun=0;HaplotypeScore=73.4438;MQ=53.57;MQ0=2;QD=35.52;SB=-2463.95;TI=NM_001039891,NM_001190417,NM_001146291;GI=ZNF674,ZNF674,ZNF674;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:25,117:140:99:5044,352,0:0.824:99 chrX 46357994 rs55646680 G A 8938.14 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.635;DP=373;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=49.20;MQ0=0;MQRankSum=-0.812;QD=23.96;ReadPosRankSum=-1.286;SB=-6697.41;TI=NM_001039891,NM_001190417,NM_001146291;GI=ZNF674,ZNF674,ZNF674;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,371:373:99:8938,581,0:0.995:99 chrX 46358117 rs55678135 C T 1064.32 PASS AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=15.5165;MQ=46.03;MQ0=0;QD=25.34;SB=-762.19;TI=NM_001039891,NM_001190417,NM_001146291;GI=ZNF674,ZNF674,ZNF674;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,42:42:81.26:1097,81,0:1.000:81 chrX 46358156 . CTAA C 755.39 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.419;DP=24;FS=0.000;HRun=0;HaplotypeScore=258.4197;MQ=40.78;MQ0=0;MQRankSum=0.000;QD=31.47;ReadPosRankSum=-1.419;SB=-243.90;TI=NM_001039891,NM_001190417,NM_001146291;GI=ZNF674,ZNF674,ZNF674;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:9,6:24:52.74:797,53,0:0.400:52 chrX 46358589 rs10156987 A C 6039.95 PASS AC=2;AF=1.00;AN=2;DP=257;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=44.36;MQ0=0;QD=23.50;SB=-5071.47;TI=NM_001039891,NM_001190417,NM_001146291;GI=ZNF674,ZNF674,ZNF674;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,257:257:99:6040,412,0:1.000:99 chrX 47327111 rs5905607 T C 318.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.701;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=48.71;MQ0=0;MQRankSum=2.268;QD=15.92;ReadPosRankSum=-0.041;SB=-215.51;TI=NM_007130,NM_153380;GI=ZNF41,ZNF41;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,14:20:98.19:348,0,98:0.700:98 chrX 47341885 rs2071779 C T 1694.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.285;DP=186;Dels=0.00;FS=0.536;HRun=2;HaplotypeScore=1.7882;MQ=41.51;MQ0=0;MQRankSum=-1.119;QD=9.11;ReadPosRankSum=0.236;SB=-1354.06;TI=NM_007130,NM_153380;GI=ZNF41,ZNF41;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:100,86:186:99:1724,0,2014:0.462:99 chrX 50334694 . TTTTCTTTC T 2723.15 R8 AC=2;AF=1.00;AN=2;DP=62;FS=0.000;HRun=0;HaplotypeScore=66.9518;MQ=40.29;MQ0=0;QD=43.92;SB=-414.10;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:31,30:62:97.65:2765,98,0:0.492:97 chrX 50334780 rs5915276 T C 470.49 SB;LowDP AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.27;MQ0=0;QD=33.61;SB=-0.01;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,14:14:42.12:503,42,0:1.000:42 chrX 50335008 rs2873098 T C 2247.52 PASS AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=49.54;MQ0=0;QD=24.97;SB=-1484.20;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,90:90:99:2281,160,0:1.000:99 chrX 53220836 rs1886889 G T 1209.44 PASS AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.01;MQ0=0;QD=21.99;SB=-1024.15;TI=NM_001146702,NM_004187;GI=KDM5C,KDM5C;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,55:55:84.28:1242,84,0:1.000:84 chrX 53221259 rs75167298 T TG 667.95 LowDP AC=2;AF=1.00;AN=2;DP=17;FS=0.000;HRun=1;HaplotypeScore=13.4309;MQ=60.00;MQ0=0;QD=39.29;SB=-127.34;TI=NM_001146702,NM_004187;GI=KDM5C,KDM5C;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,16:17:51.17:710,51,0:0.941:51 chrX 53221683 . 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=NM_001146702,NM_004187;GI=KDM5C,KDM5C;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chrX 53222043 . A AC 737.13 PASS AC=2;AF=1.00;AN=2;DP=30;FS=0.000;HRun=6;HaplotypeScore=22.0757;MQ=49.76;MQ0=0;QD=24.57;SB=-337.19;TI=NM_001146702,NM_004187;GI=KDM5C,KDM5C;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,23:30:69.20:779,69,0:0.852:69 chrX 53559518 . T TA 60.99 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.364;DP=120;FS=2.792;HRun=12;HaplotypeScore=262.2109;MQ=46.53;MQ0=0;MQRankSum=-1.146;QD=0.51;ReadPosRankSum=1.305;SB=-75.76;TI=NM_031407;GI=HUWE1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,16:120:99:100,0,2100:0.152:60 chrX 53563589 rs426298 A G 500.12 PASS AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.25;MQ0=0;QD=21.74;SB=-440.66;TI=NM_031407;GI=HUWE1;FC=Synonymous_G4059G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,23:23:36.12:533,36,0:1.000:36 chrX 53654402 rs41307640 T C 2306.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.677;DP=248;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5955;MQ=49.59;MQ0=0;MQRankSum=0.747;QD=9.30;ReadPosRankSum=-0.850;SB=-1383.91;TI=NM_031407;GI=HUWE1;FC=Missense_N483S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:145,103:248:99:2337,0,3316:0.415:99 chrX 53713590 . T C 13.02 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.090;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=41.02;MQ0=0;MQRankSum=-2.647;QD=0.93;ReadPosRankSum=-1.557;SB=-12.37;TI=NM_031407;GI=HUWE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,3:14:42.79:43,0,240:0.214:13 chrX 53713640 rs2333864 G C 2870.86 PASS AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.9926;MQ=42.35;MQ0=0;QD=22.78;SB=-2417.47;TI=NM_031407;GI=HUWE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,126:126:99:2904,199,0:1.000:99 chrX 54471920 . TA T 331.00 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.098;DP=104;FS=0.000;HRun=13;HaplotypeScore=124.0870;MQ=47.03;MQ0=0;MQRankSum=-0.214;QD=3.18;ReadPosRankSum=2.098;SB=-143.11;TI=NM_004463;GI=FGD1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,25:104:99:370,0,1396:0.278:99 chrX 66764194 . T C 138.48 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.344;DP=82;Dels=0.00;FS=52.976;HRun=6;HaplotypeScore=39.8503;MQ=43.11;MQ0=0;MQRankSum=-3.082;QD=1.69;ReadPosRankSum=1.035;SB=-0.01;TI=NM_000044;GI=AR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,15:82:99:168,0,1552:0.188:99 chrX 66764201 . A C 124.28 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DP=67;Dels=0.03;FS=72.986;HRun=6;HaplotypeScore=79.5572;MQ=42.26;MQ0=0;MQRankSum=-1.926;QD=1.85;ReadPosRankSum=0.206;SB=-0.01;TI=NM_000044;GI=AR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,16:65:99:154,0,1294:0.246:99 chrX 66764218 . T C 36.09 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.925;DP=28;Dels=0.00;FS=27.868;HRun=7;HaplotypeScore=19.6772;MQ=39.74;MQ0=0;MQRankSum=-2.135;QD=1.29;ReadPosRankSum=-2.556;SB=-0.01;TI=NM_000044;GI=AR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,6:28:66.08:66,0,474:0.261:36 chrX 66765158 . TGCAGCA TGCAGCAGCAGCA,T 7525.95 PASS AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=0.931;DP=236;FS=1.877;HaplotypeScore=153.8020;MQ=52.52;MQ0=1;MQRankSum=0.882;QD=31.89;ReadPosRankSum=-0.327;SB=-3182.09;TI=NM_000044;GI=AR;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:121,0,65:235:99:7526,4121,6907,3403,0,8471:0.349:99 chrX 66944119 rs63672661 CA C 3820.57 R8 AC=2;AF=1.00;AN=2;BaseQRankSum=-1.748;DP=157;FS=0.000;HRun=11;HaplotypeScore=265.2706;MQ=55.89;MQ0=0;MQRankSum=-0.984;QD=24.33;ReadPosRankSum=-0.759;SB=-1803.19;TI=NM_000044,NM_001011645;GI=AR,AR;FC=Splicing,Splicing;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:20,128:157:99:3821,240,0:0.865:99 chrX 67652748 rs41303733 C T 897.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DP=88;Dels=0.00;FS=0.825;HRun=0;HaplotypeScore=3.8882;MQ=46.33;MQ0=0;MQRankSum=1.173;QD=10.20;ReadPosRankSum=1.442;SB=-719.64;TI=NM_002547;GI=OPHN1;FC=Missense_V39I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,46:88:99:928,0,759:0.535:99 chrX 68061229 rs16990748 A C 604.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.454;DP=95;Dels=0.01;FS=1.801;HRun=0;HaplotypeScore=22.8439;MQ=42.21;MQ0=0;MQRankSum=-0.732;QD=6.36;ReadPosRankSum=-1.338;SB=-464.84;TI=NM_004429;GI=EFNB1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,32:94:99:635,0,1280:0.344:99 chrX 68061231 rs688969 A C 681.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.381;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.0832;MQ=42.33;MQ0=0;MQRankSum=0.089;QD=6.95;ReadPosRankSum=-0.148;SB=-533.63;TI=NM_004429;GI=EFNB1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,35:98:99:711,0,1223:0.357:99 chrX 69080840 rs1203003 G A 4398.29 PASS AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=51.62;MQ0=0;QD=25.13;SB=-3204.43;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 1/1:0,175:175:99:4398,304,0:1.000:99 chrX 69257199 rs41305407 G A 109.14 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DP=8;Dels=0.00;FS=3.680;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.922;QD=13.64;ReadPosRankSum=0.000;SB=-0.01;TI=NM_001005609,NM_001399,NM_001005612;GI=EDA,EDA,EDA;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,4:8:71.48:139,0,71:0.500:71 chrX 69672462 rs12850410 G C 1847.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.495;DP=187;Dels=0.00;FS=0.535;HRun=0;HaplotypeScore=7.4424;MQ=41.70;MQ0=0;MQRankSum=-3.430;QD=9.88;ReadPosRankSum=-0.390;SB=-1511.79;TI=NM_021120,NM_020730;GI=DLG3,DLG3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,93:187:99:1877,0,1815:0.497:99 chrX 69722274 . CT C 307.60 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.726;DP=124;FS=9.002;HRun=13;HaplotypeScore=187.1341;MQ=50.39;MQ0=0;MQRankSum=2.224;QD=2.48;ReadPosRankSum=0.955;SB=-123.34;TI=NM_021120,NM_020730,NM_001166278;GI=DLG3,DLG3,DLG3;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,26:124:99:347,0,1820:0.232:99 chrX 69723447 . G GT 253.36 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.529;DP=99;FS=2.727;HRun=13;HaplotypeScore=149.2376;MQ=48.55;MQ0=0;MQRankSum=2.560;QD=2.56;ReadPosRankSum=-0.839;SB=-138.55;TI=NM_021120,NM_020730,NM_001166278;GI=DLG3,DLG3,DLG3;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,21:99:99:292,0,1239:0.273:99 chrX 69724094 rs1044422 G A 674.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.656;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.84;MQ0=0;MQRankSum=0.967;QD=12.04;ReadPosRankSum=1.820;SB=-411.68;TI=NM_021120,NM_020730,NM_001166278;GI=DLG3,DLG3,DLG3;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,29:56:99:704,0,587:0.518:99 chrX 69724731 rs3828017 G T 1002.12 PASS AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.40;MQ0=0;QD=25.05;SB=-748.71;TI=NM_021120,NM_020730,NM_001166278;GI=DLG3,DLG3,DLG3;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,40:40:72.24:1035,72,0:1.000:72 chrX 70349947 rs5030619 A C 753.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.235;DP=109;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7502;MQ=44.07;MQ0=0;MQRankSum=0.335;QD=6.91;ReadPosRankSum=-0.954;SB=-598.81;TI=NM_005120;GI=MED12;FC=Synonymous_P1310P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,41:109:99:783,0,1442:0.376:99 chrX 73641569 rs6647476 T C 652.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.579;DP=75;Dels=0.00;FS=0.884;HRun=1;HaplotypeScore=9.4763;MQ=42.21;MQ0=0;MQRankSum=-0.250;QD=8.70;ReadPosRankSum=-1.428;SB=-522.10;TI=NM_006517;GI=SLC16A2;FC=Missense_S107P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,35:75:99:682,0,851:0.467:99 chrX 76760406 . ATGT A 4561.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.183;DP=224;FS=12.785;HRun=0;HaplotypeScore=66.3872;MQ=47.27;MQ0=0;MQRankSum=-3.082;QD=20.36;ReadPosRankSum=1.849;SB=-1873.74;TI=NM_000489,NM_138270;GI=ATRX,ATRX;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:136,88:224:99:4561,0,6866:0.393:99 chrX 76762375 . C T 249.55 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-6.116;DP=113;Dels=0.04;FS=165.088;HRun=26;HaplotypeScore=79.0539;MQ=36.79;MQ0=0;MQRankSum=-0.119;QD=2.21;ReadPosRankSum=-5.200;SB=0.46;TI=NM_000489,NM_138270;GI=ATRX,ATRX;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,25:109:99:280,0,2377:0.229:99 chrX 76763679 . TA T 175.40 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.711;DP=147;FS=0.681;HRun=13;HaplotypeScore=287.7728;MQ=52.31;MQ0=1;MQRankSum=1.203;QD=1.19;ReadPosRankSum=-0.498;SB=-101.39;TI=NM_000489,NM_138270;GI=ATRX,ATRX;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,22:146:99:214,0,2165:0.188:99 chrX 76937963 rs3088074 G C 5520.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.572;DP=405;Dels=0.00;FS=0.367;HRun=1;HaplotypeScore=8.4695;MQ=54.01;MQ0=0;MQRankSum=2.995;QD=13.63;ReadPosRankSum=-1.170;SB=-3581.51;TI=NM_000489,NM_138270;GI=ATRX,ATRX;FC=Missense_Q929E,Missense_Q891E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:177,228:405:99:5521,0,4102:0.563:99 chrX 77298857 rs4826245 G A 5749.25 PASS AC=2;AF=1.00;AN=2;DP=235;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.55;MQ0=0;QD=24.46;SB=-4198.06;TI=NM_000052;GI=ATP7A;FC=Missense_E1350K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,235:235:99:5749,397,0:1.000:99 chrX 77302385 . CA C 679.12 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.362;DP=171;FS=1.378;HRun=11;HaplotypeScore=389.2744;MQ=49.32;MQ0=0;MQRankSum=-0.005;QD=3.97;ReadPosRankSum=-0.498;SB=-320.08;TI=NM_000052;GI=ATP7A;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:121,40:170:99:718,0,2747:0.248:99 chrX 77304027 rs1062472 T C 190.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.806;DP=26;Dels=0.00;FS=3.769;HRun=0;HaplotypeScore=0.0000;MQ=56.31;MQ0=0;MQRankSum=-0.139;QD=7.32;ReadPosRankSum=0.972;SB=-51.20;TI=NM_000052;GI=ATP7A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,8:26:99:220,0,513:0.308:99 chrX 77304308 rs17139614 G C 1152.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.119;DP=92;Dels=0.00;FS=0.799;HRun=0;HaplotypeScore=0.8941;MQ=51.52;MQ0=0;MQRankSum=1.161;QD=12.53;ReadPosRankSum=0.332;SB=-843.06;TI=NM_000052;GI=ATP7A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,53:92:99:1183,0,836:0.576:99 chrX 79925246 rs2063579 A G 885.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.017;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;MQRankSum=-0.762;QD=10.93;ReadPosRankSum=0.705;SB=-570.73;TI=NM_153252;GI=BRWD3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,38:81:99:915,0,1226:0.469:99 chrX 79926627 rs12690214 T G 504.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.924;DP=53;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9159;MQ=54.87;MQ0=0;MQRankSum=1.427;QD=9.52;ReadPosRankSum=-0.135;SB=-300.05;TI=NM_153252;GI=BRWD3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,23:53:99:535,0,712:0.434:99 chrX 79927914 . G T 1204.43 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.266;DP=112;Dels=0.00;FS=6.220;HRun=0;HaplotypeScore=26.5441;MQ=43.66;MQ0=0;MQRankSum=1.589;QD=10.75;ReadPosRankSum=1.263;SB=-3.63;TI=NM_153252;GI=BRWD3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,47:112:99:1234,0,1915:0.427:99 chrX 79931831 rs67400945 CGTGT C 383.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.446;DP=31;FS=3.905;HRun=0;HaplotypeScore=41.2893;MQ=46.57;MQ0=0;MQRankSum=-0.070;QD=12.38;ReadPosRankSum=-0.821;SB=-92.68;TI=NM_153252;GI=BRWD3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,8:31:99:423,0,1290:0.258:99 chrX 79943569 rs3122407 T C 8758.53 PASS AC=2;AF=1.00;AN=2;DP=327;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9916;MQ=50.95;MQ0=0;QD=26.78;SB=-5236.17;TI=NM_153252;GI=BRWD3;FC=Missense_K1288R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,327:327:99:8759,617,0:1.000:99 chrX 84526987 rs2343388 A G 1433.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.479;DP=112;Dels=0.00;FS=1.563;HRun=4;HaplotypeScore=0.8941;MQ=49.64;MQ0=0;MQRankSum=1.984;QD=12.80;ReadPosRankSum=-0.173;SB=-850.41;TI=NM_021998;GI=ZNF711;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,64:112:99:1464,0,1048:0.571:99 chrX 84527466 rs6653049 A G 380.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.375;DP=46;Dels=0.00;FS=2.691;HRun=1;HaplotypeScore=1.7882;MQ=57.00;MQ0=0;MQRankSum=-0.117;QD=8.28;ReadPosRankSum=-0.914;SB=-218.96;TI=NM_021998;GI=ZNF711;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,15:46:99:411,0,898:0.326:99 chrX 99550883 rs1335268 G A 2841.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.730;DP=265;Dels=0.00;FS=0.456;HRun=0;HaplotypeScore=22.2273;MQ=50.87;MQ0=0;MQRankSum=0.328;QD=10.72;ReadPosRankSum=3.308;SB=-1869.09;TI=NM_020766,NM_001184880,NM_001105243;GI=PCDH19,PCDH19,PCDH19;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:132,133:265:99:2872,0,3131:0.502:99 chrX 99661969 rs1953337 G A 893.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.455;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=43.34;MQ0=0;MQRankSum=-0.141;QD=8.59;ReadPosRankSum=-1.031;SB=-706.72;TI=NM_020766,NM_001184880,NM_001105243;GI=PCDH19,PCDH19,PCDH19;FC=Synonymous_L543L,Synonymous_L543L,Synonymous_L543L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,46:104:99:924,0,1136:0.442:99 chrX 100604757 rs700 T G 2582.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.210;DP=192;Dels=0.00;FS=3.264;HRun=0;HaplotypeScore=6.7867;MQ=52.12;MQ0=0;MQRankSum=0.994;QD=13.45;ReadPosRankSum=-1.724;SB=-1736.74;TI=NM_000061;GI=BTK;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,105:192:99:2613,0,2012:0.547:99 chrX 101091164 rs6621220 T C 523.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.043;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.72;MQ0=0;MQRankSum=0.425;QD=7.27;ReadPosRankSum=1.263;SB=-456.66;TI=NM_032946,NR_028089;GI=NXF5,NXF5;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,29:72:99:553,0,869:0.403:99 chrX 103046526 rs71719797 TG T 10116.30 PASS AC=2;AF=1.00;AN=2;DP=269;FS=0.000;HRun=5;HaplotypeScore=66.7643;MQ=47.71;MQ0=0;QD=37.61;SB=-4269.69;TI=NM_001128834,NM_199478,NM_000533;GI=PLP1,PLP1,PLP1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:6,263:269:99:10116,792,0:0.978:99 chrX 103047048 . TA T 2188.31 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.878;DP=545;FS=8.431;HRun=13;HaplotypeScore=652.7388;MQ=55.63;MQ0=0;MQRankSum=0.489;QD=4.02;ReadPosRankSum=-0.388;SB=-950.07;TI=NM_001128834,NM_199478,NM_000533;GI=PLP1,PLP1,PLP1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:342,119:545:99:2227,0,6525:0.258:99 chrX 108887100 rs10126612 C T 4179.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.831;DP=376;Dels=0.00;FS=1.680;HRun=0;HaplotypeScore=1.7882;MQ=52.00;MQ0=0;MQRankSum=3.463;QD=11.12;ReadPosRankSum=1.359;SB=-3298.66;TI=NM_022977,NM_004458;GI=ACSL4,ACSL4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:178,197:376:99:4179,0,3760:0.525:99 chrX 108887204 rs1802109 G A 3019.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.315;DP=292;Dels=0.00;FS=0.424;HRun=1;HaplotypeScore=3.6821;MQ=50.45;MQ0=0;MQRankSum=0.223;QD=10.34;ReadPosRankSum=0.547;SB=-2309.46;TI=NM_022977,NM_004458;GI=ACSL4,ACSL4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:150,142:292:99:3050,0,3337:0.486:99 chrX 108976571 . G A 14.50 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=35.54;MQ0=0;MQRankSum=-0.358;QD=2.90;ReadPosRankSum=-0.358;SB=-0.01;TI=NM_022977,NM_004458;GI=ACSL4,ACSL4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:5:35.76:44,0,36:0.400:14 chrX 110464173 . CAAA C,CAA 1064.71 LowVariantFreq;R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-0.796;DP=92;FS=0.000;HaplotypeScore=337.6268;MQ=48.89;MQ0=0;MQRankSum=0.886;QD=11.57;ReadPosRankSum=0.720;SB=-298.42;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 1/2:39,7,0:92:99:1143,679,1299,292,0,233:0.152:99 chrX 110543844 . CT C 179.59 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.568;DP=62;FS=1.409;HRun=16;HaplotypeScore=147.7152;MQ=48.99;MQ0=0;MQRankSum=1.774;QD=2.90;ReadPosRankSum=-0.674;SB=-34.99;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 0/1:31,12:61:99:219,0,457:0.279:99 chrX 115304830 rs5194 A G 2762.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.848;DP=236;Dels=0.00;FS=7.601;HRun=1;HaplotypeScore=5.7872;MQ=56.24;MQ0=0;MQRankSum=0.703;QD=11.70;ReadPosRankSum=0.013;SB=-990.53;TI=NM_000686;GI=AGTR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:135,101:236:99:2792,0,3927:0.428:99 chrX 115305126 rs11091046 A C 1528.62 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.636;DP=158;Dels=0.00;FS=2.828;HRun=0;HaplotypeScore=3.6443;MQ=47.28;MQ0=0;MQRankSum=-2.960;QD=9.67;ReadPosRankSum=-0.118;SB=-1136.12;TI=NM_000686;GI=AGTR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,75:158:99:1559,0,1783:0.475:99 chrX 119658624 . C CT 519.85 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.776;DP=430;FS=0.829;HRun=11;HaplotypeScore=400.2982;MQ=55.08;MQ0=1;MQRankSum=4.600;QD=1.21;ReadPosRankSum=0.079;SB=-231.59;TI=NM_001079872,NM_003588;GI=CUL4B,CUL4B;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:320,65:429:99:559,0,7916:0.169:99 chrX 119709599 rs45524842 A G 700.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.469;DP=55;Dels=0.00;FS=3.936;HRun=1;HaplotypeScore=4.6818;MQ=46.88;MQ0=0;MQRankSum=-3.832;QD=12.74;ReadPosRankSum=1.283;SB=-624.53;TI=NM_003588;GI=CUL4B;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,36:55:99:731,0,420:0.655:99 chrX 123041043 rs28382740 A G 2320.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.195;DP=250;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.7736;MQ=45.14;MQ0=14;MQRankSum=0.986;QD=9.28;ReadPosRankSum=0.414;SB=-1413.58;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:141,109:250:99:2351,0,2917:0.436:99 chrX 123041834 rs28382742 G T 2806.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.776;DP=219;Dels=0.00;FS=0.573;HRun=0;HaplotypeScore=15.3057;MQ=52.73;MQ0=0;MQRankSum=0.826;QD=12.82;ReadPosRankSum=-1.513;SB=-865.59;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:110,109:219:99:2837,0,2929:0.498:99 chrX 123042424 rs28382744;rs56193972 G A 2904.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.774;DP=285;Dels=0.00;FS=2.616;HRun=0;HaplotypeScore=0.8941;MQ=50.84;MQ0=6;MQRankSum=1.176;QD=10.19;ReadPosRankSum=0.139;SB=-2034.25;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:155,130:285:99:2935,0,3383:0.456:99 chrX 123042707 rs17334746 T C 2770.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.565;DP=271;Dels=0.00;FS=0.951;HRun=2;HaplotypeScore=4.8803;MQ=50.68;MQ0=0;MQRankSum=-0.985;QD=10.22;ReadPosRankSum=-0.440;SB=-1644.37;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:150,121:271:99:2800,0,3553:0.446:99 chrX 123043324 rs28382745 TGTATA T 9065.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.681;DP=212;FS=3.178;HRun=0;HaplotypeScore=70.2881;MQ=53.67;MQ0=0;MQRankSum=0.064;QD=42.76;ReadPosRankSum=3.737;SB=-3996.95;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:85,127:212:99:9066,0,5761:0.599:99 chrX 123043705 rs17330637 A C 7266.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.425;DP=634;Dels=0.00;FS=0.590;HRun=1;HaplotypeScore=6.2312;MQ=53.00;MQ0=0;MQRankSum=3.652;QD=11.46;ReadPosRankSum=-0.568;SB=-5125.40;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:305,329:634:99:7266,0,6753:0.519:99 chrX 123043876 rs17330644 C T 6142.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.233;DP=455;Dels=0.00;FS=3.119;HRun=1;HaplotypeScore=14.9613;MQ=53.02;MQ0=0;MQRankSum=2.848;QD=13.50;ReadPosRankSum=1.752;SB=-2688.14;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:209,246:455:99:6142,0,5235:0.541:99 chrX 123044414 rs17330651 T C 822.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.743;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8936;MQ=43.98;MQ0=0;MQRankSum=-1.402;QD=10.03;ReadPosRankSum=3.055;SB=-685.99;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,43:82:99:853,0,860:0.524:99 chrX 123044673 rs28382747 T G 517.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.127;DP=39;Dels=0.00;FS=1.926;HRun=0;HaplotypeScore=2.7249;MQ=52.33;MQ0=0;MQRankSum=0.042;QD=13.27;ReadPosRankSum=0.324;SB=-45.09;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,21:39:99:548,0,428:0.538:99 chrX 123044717 . C CA 561.24 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.187;DP=210;FS=0.575;HRun=16;HaplotypeScore=515.8413;MQ=51.42;MQ0=1;MQRankSum=-0.138;QD=2.67;ReadPosRankSum=0.233;SB=-240.41;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,52:209:99:600,0,1469:0.369:99 chrX 123045046 rs28382749 A G 3199.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.242;DP=291;Dels=0.00;FS=0.427;HRun=1;HaplotypeScore=10.3354;MQ=48.34;MQ0=0;MQRankSum=-0.573;QD=10.99;ReadPosRankSum=-0.794;SB=-2297.29;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:139,152:291:99:3229,0,2874:0.522:99 chrX 123045109 rs28382751 C A 387.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.048;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=51.07;MQ0=0;MQRankSum=1.289;QD=10.76;ReadPosRankSum=-0.621;SB=-168.21;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,16:36:99:417,0,498:0.444:99 chrX 123045138 rs1139234 A G 35.39 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.948;DP=18;Dels=0.00;FS=6.107;HRun=1;HaplotypeScore=0.9995;MQ=50.50;MQ0=0;MQRankSum=-0.948;QD=1.97;ReadPosRankSum=-1.659;SB=-4.54;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,3:18:65.38:65,0,406:0.167:35 chrX 123045154 . C T 13.02 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.898;DP=10;Dels=0.00;FS=8.751;HRun=0;HaplotypeScore=0.9665;MQ=46.43;MQ0=0;MQRankSum=-1.733;QD=1.30;ReadPosRankSum=0.000;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,2:10:42.80:43,0,214:0.200:13 chrX 123045156 . C T 15.92 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.762;DP=9;Dels=0.00;FS=7.782;HRun=0;HaplotypeScore=1.9330;MQ=44.67;MQ0=0;MQRankSum=-1.666;QD=1.77;ReadPosRankSum=-0.067;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:45.80:46,0,188:0.222:15 chrX 123045162 . T A 18.87 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DP=7;Dels=0.00;FS=8.451;HRun=1;HaplotypeScore=1.9330;MQ=46.63;MQ0=0;MQRankSum=-1.495;QD=2.70;ReadPosRankSum=-0.922;SB=-0.00;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:48.81:49,0,149:0.286:18 chrX 123045176 . A AT 244.16 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=2.332;DP=16;FS=26.994;HRun=0;HaplotypeScore=576.9429;MQ=37.74;MQ0=0;MQRankSum=-3.308;QD=15.26;ReadPosRankSum=1.139;SB=0.06;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,8:16:99:283,0,187:0.500:99 chrX 123045177 . A G 153.19 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-2.153;DP=16;Dels=0.00;FS=15.911;HRun=0;HaplotypeScore=6.8566;MQ=37.74;MQ0=0;MQRankSum=-1.523;QD=9.57;ReadPosRankSum=-0.893;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,8:16:99:183,0,215:0.500:99 chrX 123045183 . T C 182.93 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.892;DP=14;Dels=0.00;FS=25.233;HRun=1;HaplotypeScore=7.3258;MQ=38.83;MQ0=0;MQRankSum=-2.938;QD=13.07;ReadPosRankSum=-1.109;SB=0.10;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,8:14:99:213,0,161:0.571:99 chrX 123045184 . G A 160.14 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.220;DP=15;Dels=0.00;FS=19.792;HRun=0;HaplotypeScore=7.3258;MQ=40.58;MQ0=0;MQRankSum=-3.366;QD=10.68;ReadPosRankSum=-0.652;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,8:15:99:190,0,199:0.533:99 chrX 123045196 . T A 90.32 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.120;DP=15;Dels=0.00;FS=10.659;HRun=0;HaplotypeScore=6.3224;MQ=40.58;MQ0=0;MQRankSum=-1.355;QD=6.02;ReadPosRankSum=-0.412;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,6:15:99:120,0,257:0.400:90 chrX 123045203 . T C 15.01 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.589;DP=8;Dels=0.00;FS=3.332;HRun=2;HaplotypeScore=0.0000;MQ=44.81;MQ0=0;MQRankSum=-1.589;QD=1.88;ReadPosRankSum=-0.572;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:44.87:45,0,178:0.250:15 chrX 123045204 . G A 15.92 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.067;DP=8;Dels=0.00;FS=3.332;HRun=0;HaplotypeScore=0.0000;MQ=44.81;MQ0=0;MQRankSum=-1.067;QD=1.99;ReadPosRankSum=-0.572;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:45.80:46,0,175:0.250:15 chrX 123045207 rs1139238 A G 15.92 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.589;DP=8;Dels=0.00;FS=3.332;HRun=0;HaplotypeScore=0.0000;MQ=44.81;MQ0=0;MQRankSum=-1.589;QD=1.99;ReadPosRankSum=-0.572;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:45.80:46,0,178:0.250:15 chrX 123045219 rs28382752 T C 62.47 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9950;MQ=44.01;MQ0=0;MQRankSum=-0.406;QD=10.41;ReadPosRankSum=0.406;SB=-34.63;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,3:6:64.98:92,0,65:0.500:62 chrX 123045327 . C CAA 560.05 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.207;DP=91;FS=0.000;HRun=13;HaplotypeScore=144.4467;MQ=50.44;MQ0=0;MQRankSum=-1.120;QD=6.15;ReadPosRankSum=-0.655;SB=-296.38;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,18:91:99:599,0,1325:0.327:99 chrX 123045641 rs9856 C T 4228.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.287;DP=374;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=10.3629;MQ=53.16;MQ0=0;MQRankSum=3.985;QD=11.31;ReadPosRankSum=0.821;SB=-3055.34;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:179,194:374:99:4228,0,3768:0.520:99 chrX 123045915 rs8371 C T 3230.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-3.678;DP=319;Dels=0.00;FS=1.857;HRun=1;HaplotypeScore=1.8939;MQ=48.69;MQ0=0;MQRankSum=-1.341;QD=10.13;ReadPosRankSum=0.161;SB=-2488.32;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:159,159:319:99:3259,0,3590:0.500:99 chrX 123046198 . CA C 605.37 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.780;DP=75;FS=1.949;HRun=13;HaplotypeScore=157.4491;MQ=43.06;MQ0=0;MQRankSum=1.830;QD=8.07;ReadPosRankSum=-0.379;SB=-296.53;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,28:75:99:644,0,614:0.444:99 chrX 123046272 rs5958343 A T 504.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.761;DP=75;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8924;MQ=47.77;MQ0=0;MQRankSum=0.093;QD=6.73;ReadPosRankSum=-0.827;SB=-313.37;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,28:75:99:535,0,1065:0.373:99 chrX 123046536 . GT G 431.62 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=3.450;DP=41;FS=0.000;HRun=14;HaplotypeScore=159.8499;MQ=51.02;MQ0=0;MQRankSum=0.399;QD=10.53;ReadPosRankSum=-0.124;SB=-204.93;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,21:41:99:471,0,162:0.568:99 chrX 123046923 rs6648556 T G 841.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.415;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8533;MQ=44.80;MQ0=0;MQRankSum=-1.343;QD=5.50;ReadPosRankSum=-2.260;SB=-640.38;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:108,45:153:99:871,0,2249:0.294:99 chrX 123047282 rs28382755 C T 2146.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.521;DP=150;Dels=0.00;FS=2.256;HRun=0;HaplotypeScore=2.8833;MQ=51.82;MQ0=0;MQRankSum=1.321;QD=14.31;ReadPosRankSum=0.023;SB=-1006.23;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,87:150:99:2176,0,1564:0.580:99 chrX 123047453 rs5911725 T A 2715.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.195;DP=253;Dels=0.00;FS=1.540;HRun=2;HaplotypeScore=1.7882;MQ=56.54;MQ0=0;MQRankSum=1.856;QD=10.73;ReadPosRankSum=0.493;SB=-1640.59;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:148,105:253:99:2746,0,3897:0.415:99 chrX 123047668 . G C 1223.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.232;DP=400;Dels=0.00;FS=9.402;HRun=0;HaplotypeScore=14.8231;MQ=51.82;MQ0=1;MQRankSum=-0.999;QD=3.06;ReadPosRankSum=1.931;SB=-1114.16;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:307,91:400:99:1253,0,8013:0.229:99 chrX 123047709 rs72610614 G A 1181.77 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=0.808;DP=457;Dels=0.00;FS=1.972;HRun=0;HaplotypeScore=6.2586;MQ=52.34;MQ0=1;MQRankSum=-1.796;QD=2.59;ReadPosRankSum=3.219;SB=-1016.78;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:366,91:457:99:1212,0,8615:0.199:99 chrX 123047728 . T C 1128.81 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=4.336;DP=438;Dels=0.00;FS=2.009;HRun=0;HaplotypeScore=6.7733;MQ=52.63;MQ0=1;MQRankSum=-1.150;QD=2.58;ReadPosRankSum=-0.281;SB=-1003.69;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:352,86:438:99:1159,0,8311:0.196:99 chrX 123047770 . C T 374.39 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.545;DP=329;Dels=0.00;FS=9.759;HRun=2;HaplotypeScore=11.1238;MQ=54.48;MQ0=1;MQRankSum=0.779;QD=1.14;ReadPosRankSum=-1.795;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:293,36:329:99:404,0,7056:0.109:99 chrX 123047802 . A C 170.00 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.731;DP=279;Dels=0.00;FS=14.892;HRun=0;HaplotypeScore=1.7882;MQ=55.62;MQ0=1;MQRankSum=1.042;QD=0.61;ReadPosRankSum=-5.005;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:257,22:279:99:200,0,6268:0.079:99 chrX 123480147 rs12164382 C T 1664.11 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.687;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.86;MQ0=0;MQRankSum=1.413;QD=21.90;ReadPosRankSum=-1.048;SB=-1462.93;TI=NM_002351,NM_001114937;GI=SH2D1A,SH2D1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,75:76:99:1697,114,0:0.987:99 chrX 123506104 rs7876065 T A 8233.83 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.807;DP=316;Dels=0.00;FS=0.000;HRun=7;HaplotypeScore=3.9608;MQ=56.30;MQ0=0;MQRankSum=-0.218;QD=26.06;ReadPosRankSum=-1.374;SB=-6117.90;TI=NM_002351,NM_001114937;GI=SH2D1A,SH2D1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,312:316:99:8234,468,0:0.987:99 chrX 128724525 rs2071706 G A 878.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.770;DP=139;Dels=0.00;FS=1.407;HRun=1;HaplotypeScore=1.7882;MQ=47.11;MQ0=0;MQRankSum=-1.084;QD=6.32;ReadPosRankSum=0.639;SB=-709.46;TI=NM_000276,NM_001587;GI=OCRL,OCRL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:92,47:139:99:909,0,2033:0.338:99 chrX 128938958 rs1053486 T C 816.00 PASS AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=44.97;MQ0=0;QD=24.00;SB=-652.57;TI=NM_001008222,NM_016032;GI=ZDHHC9,ZDHHC9;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,34:34:60.20:849,60,0:1.000:60 chrX 128939304 . AT A 1038.52 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.266;DP=209;FS=1.094;HRun=13;HaplotypeScore=229.6545;MQ=45.25;MQ0=0;MQRankSum=-1.170;QD=4.97;ReadPosRankSum=-1.122;SB=-527.81;TI=NM_001008222,NM_016032;GI=ZDHHC9,ZDHHC9;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:121,59:209:99:1078,0,2477:0.328:99 chrX 132670054 rs71747737 CA C 543.02 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.885;DP=224;FS=0.512;HRun=13;HaplotypeScore=285.6667;MQ=47.89;MQ0=0;MQRankSum=-0.643;QD=2.42;ReadPosRankSum=2.043;SB=-273.44;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 0/1:148,36:224:99:582,0,3006:0.196:99 chrX 135730555 rs1126535 T C 2209.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.201;DP=181;Dels=0.00;FS=0.550;HRun=0;HaplotypeScore=3.7878;MQ=50.00;MQ0=0;MQRankSum=1.730;QD=12.21;ReadPosRankSum=0.638;SB=-1489.31;TI=NM_000074;GI=CD40LG;FC=Synonymous_L50L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,101:181:99:2239,0,1660:0.558:99 chrX 135742096 . G C 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=6;Dels=0.00;FS=3.310;HRun=16;HaplotypeScore=0.0000;MQ=38.43;MQ0=0;MQRankSum=-1.380;QD=3.64;ReadPosRankSum=0.720;SB=-0.01;TI=NM_000074;GI=CD40LG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:51.82:52,0,98:0.333:21 chrX 135742099 . A C 18.88 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.067;DP=8;Dels=0.00;FS=3.332;HRun=3;HaplotypeScore=0.0000;MQ=38.08;MQ0=0;MQRankSum=-1.589;QD=2.36;ReadPosRankSum=-0.572;SB=-0.01;TI=NM_000074;GI=CD40LG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:48.81:49,0,140:0.250:18 chrX 147582160 . 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=37.00;MQ0=0;QD=7.46;SB=-40.01;TI=NM_001169125,NM_002025,NM_001169122,NM_001169124,NM_001169123;GI=AFF2,AFF2,AFF2,AFF2,AFF2;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chrX 147800748 rs241084 A G 2255.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.932;DP=212;Dels=0.00;FS=1.063;HRun=1;HaplotypeScore=0.8941;MQ=46.68;MQ0=0;MQRankSum=0.428;QD=10.64;ReadPosRankSum=-1.761;SB=-1561.02;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,Missense_K15R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:109,103:212:99:2286,0,2201:0.486:99 chrX 148077020 rs77735141 C G,T 431.40 LowDP AC=1,1;AF=0.50,0.50;AN=2;DP=16;Dels=0.00;FS=0.000;HaplotypeScore=3.6979;MQ=51.49;MQ0=0;QD=26.96;SB=-41.31;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 1/2:0,3,13:16:31.07:490,394,385,67,0,31:1.000:31 chrX 148078829 . A T 17.67 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.509;DP=61;Dels=0.00;FS=3.728;HRun=0;HaplotypeScore=5.7837;MQ=50.39;MQ0=0;MQRankSum=-2.704;QD=0.29;ReadPosRankSum=-1.550;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 0/1:54,7:61:47.59:48,0,1395:0.115:17 chrX 148078831 rs58381608 T A 16.91 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.474;DP=57;Dels=0.00;FS=1.743;HRun=0;HaplotypeScore=5.7837;MQ=51.40;MQ0=0;MQRankSum=-2.152;QD=0.30;ReadPosRankSum=-1.641;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 0/1:50,7:57:46.82:47,0,1372:0.123:16 chrX 148079639 rs16994920 A C 5261.93 PASS AC=2;AF=1.00;AN=2;DP=223;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48.20;MQ0=1;QD=23.60;SB=-4045.83;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 1/1:0,223:223:99:5262,361,0:1.000:99 chrX 148079740 rs58901446 A C 2689.37 PASS AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53.06;MQ0=1;QD=25.13;SB=-2040.09;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 1/1:0,107:107:99:2722,190,0:1.000:99 chrX 148079877 rs16994922 T C 4749.88 PASS AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=50.15;MQ0=0;QD=23.75;SB=-3855.59;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 1/1:0,200:200:99:4750,325,0:1.000:99 chrX 148080095 rs6641482 A G 965.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.305;DP=102;Dels=0.00;FS=2.528;HRun=0;HaplotypeScore=0.8941;MQ=46.07;MQ0=0;MQRankSum=-0.761;QD=9.46;ReadPosRankSum=1.720;SB=-730.03;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 0/1:54,48:102:99:995,0,1213:0.471:99 chrX 148081140 . A G 123.19 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.43;MQ0=0;QD=24.64;SB=-40.01;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 1/1:0,5:5:12.04:156,12,0:1.000:12 chrX 148081451 . A G 2151.26 PASS AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.41;MQ0=0;QD=23.64;SB=-1639.56;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 1/1:0,91:91:99:2184,151,0:1.000:99 chrX 148560611 rs5936291 G A 390.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.517;DP=35;Dels=0.00;FS=1.344;HRun=0;HaplotypeScore=0.0000;MQ=46.19;MQ0=0;MQRankSum=0.383;QD=11.16;ReadPosRankSum=0.717;SB=-339.05;TI=NM_000202,NM_001166550;GI=IDS,IDS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,20:35:99:421,0,330:0.571:99 chrX 148560698 rs5936292;rs80260141 G A 50.05 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=25.02;SB=-39.40;TI=NM_000202,NM_001166550;GI=IDS,IDS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:81,6,0:1.000:6 chrX 148560766 rs5936188 T C 47.98 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=23.99;SB=-0.01;TI=NM_000202,NM_001166550;GI=IDS,IDS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:79,6,0:1.000:6 chrX 148561274 rs11969 T C 831.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.089;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.60;MQ0=0;MQRankSum=0.116;QD=7.42;ReadPosRankSum=0.391;SB=-528.22;TI=NM_000202,NM_001166550;GI=IDS,IDS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,39:112:99:861,0,1803:0.348:99 chrX 148561332 rs8965 C T 722.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.210;DP=74;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=56.58;MQ0=0;MQRankSum=1.473;QD=9.77;ReadPosRankSum=0.808;SB=-289.65;TI=NM_000202,NM_001166550;GI=IDS,IDS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,29:74:99:753,0,1183:0.392:99 chrX 148562599 rs1064463 G A 1454.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.147;DP=122;Dels=0.00;FS=2.330;HRun=1;HaplotypeScore=1.9995;MQ=49.11;MQ0=0;MQRankSum=2.451;QD=11.92;ReadPosRankSum=-1.080;SB=-1065.77;TI=NM_000202,NM_001166550;GI=IDS,IDS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,68:122:99:1485,0,1176:0.557:99 chrX 148563150 rs4844025 C T 607.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.574;DP=45;Dels=0.00;FS=1.126;HRun=1;HaplotypeScore=0.8941;MQ=48.46;MQ0=0;MQRankSum=-0.080;QD=13.51;ReadPosRankSum=0.195;SB=-415.09;TI=NM_000202,NM_001166550;GI=IDS,IDS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,26:45:99:638,0,393:0.578:99 chrX 152954025 rs384573 A G 1454.53 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=39.10;MQ0=0;QD=21.71;SB=-1249.17;TI=NM_005629,NM_001142805;GI=SLC6A8,SLC6A8;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:67:99:1488,102,0:1.000:99 chrX 152991622 . 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_000033;GI=ABCD1;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chrX 153006076 . C T 10.48 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-0.061;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=40.37;MQ0=0;MQRankSum=-4.505;QD=0.11;ReadPosRankSum=-1.375;SB=-29.87;TI=NM_000033;GI=ABCD1;FC=Synonymous_D561D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,8:94:40.07:40,0,1838:0.085:10 chrX 153006092 . C T 28.15 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.412;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41.80;MQ0=0;MQRankSum=-4.637;QD=0.34;ReadPosRankSum=0.687;SB=-8.82;TI=NM_000033;GI=ABCD1;FC=Nonsense_Q567X;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,8:83:58.13:58,0,1581:0.096:28 chrX 153006093 . A G 28.14 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.381;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9931;MQ=41.80;MQ0=0;MQRankSum=-4.637;QD=0.34;ReadPosRankSum=0.949;SB=-8.81;TI=NM_000033;GI=ABCD1;FC=Missense_Q567R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,8:83:58.13:58,0,1594:0.096:28 chrX 153006137 rs76180859 G A 70.20 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=2.306;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=40.07;MQ0=4;MQRankSum=-4.924;QD=0.84;ReadPosRankSum=2.553;SB=-10.88;TI=NM_000033;GI=ABCD1;FC=Missense_V582I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,14:84:99:100,0,1540:0.167:70 chrX 153006141 rs79383557 T A 70.20 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=2.015;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=39.60;MQ0=6;MQRankSum=-4.924;QD=0.82;ReadPosRankSum=2.262;SB=-10.89;TI=NM_000033;GI=ABCD1;FC=Missense_V583E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,16:86:99:100,0,1537:0.186:70 chrX 153008970 rs76637913 C T 1998.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.751;DP=192;Dels=0.00;FS=1.160;HRun=2;HaplotypeScore=11.1445;MQ=45.84;MQ0=8;MQRankSum=0.259;QD=10.41;ReadPosRankSum=1.926;SB=-1321.76;TI=NM_000033;GI=ABCD1;FC=Synonymous_F673F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,94:192:99:2029,0,1828:0.490:99 chrX 153009197 rs2229539 G C 610.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DP=67;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.7150;MQ=42.57;MQ0=0;MQRankSum=1.626;QD=9.12;ReadPosRankSum=-2.537;SB=-421.17;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,29:67:99:641,0,819:0.433:99 chrX 153009719 rs67211405 G A 138.36 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=1.759;DP=178;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4437;MQ=46.53;MQ0=0;MQRankSum=-5.001;QD=0.78;ReadPosRankSum=-4.085;SB=-108.08;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:157,21:178:99:168,0,3668:0.118:99 chrX 153010059 rs72616452 G T 742.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.804;DP=173;Dels=0.00;FS=1.350;HRun=0;HaplotypeScore=52.1779;MQ=42.70;MQ0=0;MQRankSum=-6.358;QD=4.29;ReadPosRankSum=-1.080;SB=-545.09;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:124,48:173:99:772,0,2779:0.279:99 chrX 153010066 rs11803 C T 1541.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.066;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=57.2665;MQ=41.98;MQ0=0;MQRankSum=2.258;QD=8.07;ReadPosRankSum=-0.496;SB=-1193.58;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:115,76:191:99:1572,0,2342:0.398:99 chrX 153010083 rs1055847 G A 1371.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.050;DP=225;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=159.9166;MQ=41.00;MQ0=0;MQRankSum=4.792;QD=6.09;ReadPosRankSum=-0.590;SB=-1073.39;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:152,73:225:99:1401,0,3083:0.324:99 chrX 153010090 rs75637470 G A 1348.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.385;DP=239;Dels=0.00;FS=1.069;HRun=1;HaplotypeScore=161.8499;MQ=40.52;MQ0=3;MQRankSum=-9.736;QD=5.64;ReadPosRankSum=2.141;SB=-880.40;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:158,81:239:99:1379,0,3341:0.339:99 chrX 153010092 rs78155328 G A 1348.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.189;DP=241;Dels=0.00;FS=0.506;HRun=0;HaplotypeScore=161.8225;MQ=40.49;MQ0=3;MQRankSum=-9.956;QD=5.60;ReadPosRankSum=2.470;SB=-875.00;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:160,81:241:99:1379,0,3336:0.336:99 chrX 153010137 . C T 429.74 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=0.556;DP=237;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=41.79;MQ0=1;MQRankSum=-7.510;QD=1.81;ReadPosRankSum=-6.448;SB=-228.95;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:199,38:237:99:460,0,4234:0.160:99 chrX 153127105 rs73247638 G T 1827.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.053;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=15.4877;MQ=42.29;MQ0=0;MQRankSum=-0.510;QD=9.67;ReadPosRankSum=1.516;SB=-1358.75;TI=NM_001143963,NM_000425,NM_024003;GI=L1CAM,L1CAM,L1CAM;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,90:189:99:1858,0,2021:0.476:99 chrX 153287696 . A G 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_004992;GI=MECP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chrX 153292180 rs2734647 T C 787.59 PASS AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.50;MQ0=0;QD=23.16;SB=-603.94;TI=NM_004992;GI=MECP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,34:34:57.19:821,57,0:1.000:57 chrX 153294542 rs2853337 T C 3287.39 PASS AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.03;MQ0=0;QD=26.09;SB=-1967.88;TI=NM_004992;GI=MECP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,126:126:99:3287,232,0:1.000:99 chrX 153629155 rs4909;rs12012747;rs17091345 A G 1477.11 PASS AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37.60;MQ0=32;QD=16.98;SB=-814.27;TI=NM_006013,NR_026898;GI=RPL10,RPL10;FC=Missense_N202S,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:10,77:87:99:1510,108,0:0.885:99 chrX 153630255 rs12877 G C 624.55 PASS AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.23;SB=-317.40;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 1/1:0,20:20:48.16:658,48,0:1.000:48 chrX 153630293 rs12559 C T 995.66 PASS AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=48.39;MQ0=0;QD=25.53;SB=-760.72;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 1/1:0,39:39:72.24:1029,72,0:1.000:72 chrX 153640060 rs11388353 CT C 1984.26 PASS AC=2;AF=1.00;AN=2;DP=46;FS=0.000;HRun=1;HaplotypeScore=19.4310;MQ=39.69;MQ0=0;QD=43.14;SB=-1011.60;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 1/1:0,46:46:99:2026,138,0:1.000:99 chrX 153649813 rs743547 G C 1360.26 PASS AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=0.8941;MQ=44.43;MQ0=0;QD=23.06;SB=-1067.78;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 1/1:0,59:59:96.31:1393,96,0:1.000:96 chrX 153665575 . G C 10.43 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=37.00;MQ0=0;QD=10.43;SB=-0.01;TI=NM_001493;GI=GDI1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:40,3,0:1.000:3 chrX 153994596 rs2728532 G T 2868.80 PASS AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5976;MQ=44.11;MQ0=0;QD=24.11;SB=-2016.71;TI=NM_001363,NM_001142463;GI=DKC1,DKC1;FC=Synonymous_T123T,Synonymous_T123T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,118:119:99:2902,202,0:1.000:99 chrX 154064200 rs1050705 C T 1367.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.599;DP=52;Dels=0.00;FS=3.181;HRun=1;HaplotypeScore=2.6823;MQ=57.44;MQ0=0;MQRankSum=0.533;QD=26.31;ReadPosRankSum=0.600;SB=-921.35;TI=NM_019863,NM_000132;GI=F8,F8;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,51:52:64.70:1401,65,0:0.981:64 chrX 154064580 rs1396947 T C 1306.62 PASS AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=48.74;MQ0=0;QD=25.62;SB=-836.60;TI=NM_019863,NM_000132;GI=F8,F8;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,51:51:93.31:1340,93,0:1.000:93